TITINdb

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Position	Domain position	SAV	Structural Position	RS	Q(SASA)	Disease	Source	MAF
31709	2	P/H	2	rs869320739	0.1290	HMERF	Literature	None
31709	2	P/R	2	rs869320739	0.1290	HMERF	Literature	None
31710	3	G/S	3	rs770979567	0.2111	None	gnomAD-2.1.1	4.15E-06
31710	3	G/S	3	rs770979567	0.2111	None	gnomAD-3.1.2	6.57E-06
31710	3	G/S	3	rs770979567	0.2111	None	gnomAD-4.0.0	3.11743E-06
31711	4	P/L	4	None	0.4810	None	gnomAD-4.0.0	6.88534E-07
31712	5	C/R	5	rs869320740	0.1477	None	gnomAD-2.1.1	4.11E-06
31712	5	C/R	5	rs869320740	0.1477	MFM HMERF	Literature	None
31712	5	C/R	5	rs869320740	0.1477	None	gnomAD-4.0.0	3.43489E-06
31712	5	C/W	5	None	0.1477	HMERF	Literature	None
31712	5	C/Y	5	None	0.1477	MFM HMERF	Literature	None
31716	9	T/N	11	rs879097606	0.4015	None	gnomAD-4.0.0	1.59902E-06
31716	9	T/S	11	None	0.4015	None	gnomAD-4.0.0	1.59929E-06
31717	10	V/I	12	rs150930737	0.3286	None	gnomAD-2.1.1	6.85E-05
31717	10	V/I	12	rs150930737	0.3286	None	gnomAD-3.1.2	3.94E-05
31717	10	V/I	12	rs150930737	0.3286	None	1000 genomes	1.99681E-04
31717	10	V/I	12	rs150930737	0.3286	None	gnomAD-4.0.0	3.53841E-05
31718	11	S/I	13	rs758006837	0.3312	None	gnomAD-2.1.1	2.88E-05
31718	11	S/I	13	rs758006837	0.3312	None	gnomAD-3.1.2	3.29E-05
31718	11	S/I	13	rs758006837	0.3312	None	gnomAD-4.0.0	8.74991E-05
31718	11	S/N	13	None	0.3312	None	gnomAD-4.0.0	6.85286E-07
31718	11	S/R	13	rs781462223	0.3312	None	gnomAD-2.1.1	5.27E-05
31718	11	S/R	13	rs781462223	0.3312	None	gnomAD-4.0.0	6.85142E-07
31719	12	R/K	14	None	0.7406	None	gnomAD-4.0.0	1.5955E-06
31720	13	V/A	15	None	0.2372	None	gnomAD-4.0.0	1.59454E-06
31720	13	V/E	15	rs1696965426	0.2372	None	gnomAD-3.1.2	6.57E-06
31720	13	V/E	15	rs1696965426	0.2372	None	gnomAD-4.0.0	6.57428E-06
31720	13	V/I	15	rs1575443877	0.2372	None	gnomAD-4.0.0	1.59457E-06
31721	14	T/I	16	None	0.1933	None	gnomAD-4.0.0	6.84617E-07
31723	16	E/K	18	rs1225039103	0.5183	None	gnomAD-2.1.1	4.04E-06
31723	16	E/K	18	rs1225039103	0.5183	None	gnomAD-4.0.0	1.59239E-06
31724	17	K/Q	19	rs1322640877	0.5477	None	gnomAD-2.1.1	4.03E-06
31724	17	K/Q	19	rs1322640877	0.5477	None	gnomAD-4.0.0	1.59222E-06
31725	18	C/G	20	None	0.0914	None	gnomAD-4.0.0	6.84342E-07
31725	18	C/R	20	rs1295856798	0.0914	None	gnomAD-3.1.2	6.57E-06
31725	18	C/R	20	rs1295856798	0.0914	None	gnomAD-4.0.0	1.85936E-06
31726	19	T/A	21	rs761422470	0.2113	None	gnomAD-2.1.1	4.03E-06
31726	19	T/A	21	rs761422470	0.2113	None	gnomAD-4.0.0	2.73723E-06
31726	19	T/S	21	None	0.2113	None	gnomAD-4.0.0	1.36861E-06
31727	20	L/S	22	None	0.1170	None	gnomAD-4.0.0	2.40064E-06
31728	21	A/S	23	rs1360534996	0.2173	None	gnomAD-3.1.2	6.57E-06
31728	21	A/S	23	rs1360534996	0.2173	None	gnomAD-4.0.0	6.57004E-06
31728	21	A/T	23	None	0.2173	None	gnomAD-4.0.0	3.18359E-06
31729	22	W/C	24	rs869320742	0.1251	HMERF	Literature	None
31729	22	W/C	24	rs869320742	0.1251	None	gnomAD-4.0.0	6.1583E-06
31729	22	W/L	24	rs786205367	0.1251	MFM HMERF	Literature	None
31729	22	W/R	24	rs869320741	0.1251	HMERF	Literature	None
31730	23	S/C	25	rs1213250473	0.3546	None	gnomAD-4.0.0	6.15831E-06
31730	23	S/G	25	rs1213250473	0.3546	None	gnomAD-2.1.1	4.03E-06
31730	23	S/G	25	rs1213250473	0.3546	None	gnomAD-4.0.0	6.84257E-07
31730	23	S/N	25	rs2555816	0.3546	None	gnomAD-4.0.0	1.20032E-06
31731	24	L/I	26	rs1364685585	0.7106	None	gnomAD-2.1.1	4.03E-06
31731	24	L/I	26	rs1364685585	0.7106	None	gnomAD-4.0.0	1.59148E-06
31732	25	P/L	27	rs753334568	0.1839	None	gnomAD-2.1.1	1.21E-05
31732	25	P/L	27	rs753334568	0.1839	None	gnomAD-3.1.2	1.31E-05
31732	25	P/L	27	rs753334568	0.1839	CM HMERF	Literature	None
31732	25	P/L	27	rs753334568	0.1839	None	gnomAD-4.0.0	9.29582E-06
31732	25	P/R	27	None	0.1839	None	gnomAD-4.0.0	6.84245E-07
31735	28	D/H	30	None	0.3261	None	gnomAD-4.0.0	1.36847E-06
31735	28	D/V	30	rs760640290	0.3261	None	gnomAD-2.1.1	4.03E-06
31735	28	D/V	30	rs760640290	0.3261	None	gnomAD-4.0.0	3.18276E-06
31736	29	G/A	31	rs1401862112	0.3009	None	gnomAD-4.0.0	4.10542E-06
31736	29	G/E	31	rs1401862112	0.3009	None	gnomAD-2.1.1	3.19E-05
31736	29	G/E	31	rs1401862112	0.3009	None	gnomAD-3.1.2	6.57E-06
31736	29	G/E	31	rs1401862112	0.3009	None	gnomAD-4.0.0	6.57065E-06
31736	29	G/R	31	rs771799061	0.3009	None	gnomAD-2.1.1	8.06E-06
31736	29	G/R	31	rs771799061	0.3009	None	gnomAD-3.1.2	6.57E-06
31736	29	G/R	31	rs771799061	0.3009	None	gnomAD-4.0.0	8.6759E-06
31737	30	G/E	32	rs1696939367	0.5606	None	gnomAD-3.1.2	6.57E-06
31737	30	G/E	32	rs1696939367	0.5606	None	gnomAD-4.0.0	6.57099E-06
31739	32	E/D	34	None	0.8632	None	gnomAD-4.0.0	6.84219E-07
31740	33	I/T	35	rs200781956	0.2297	None	gnomAD-2.1.1	8.05E-06
31740	33	I/T	35	rs200781956	0.2297	None	gnomAD-3.1.2	6.57E-06
31740	33	I/T	35	rs200781956	0.2297	None	gnomAD-4.0.0	6.57186E-06
31740	33	I/V	35	None	0.2297	None	gnomAD-4.0.0	1.20032E-06
31742	35	H/D	37	None	0.1957	None	gnomAD-4.0.0	1.36845E-06
31742	35	H/Q	37	rs771123318	0.1957	None	gnomAD-2.1.1	4.03E-06
31742	35	H/Q	37	rs771123318	0.1957	None	gnomAD-3.1.2	6.57E-06
31742	35	H/Q	37	rs771123318	0.1957	None	gnomAD-4.0.0	6.57099E-06
31742	35	H/R	37	rs774491202	0.1957	None	gnomAD-2.1.1	4.03E-06
31742	35	H/R	37	rs774491202	0.1957	None	gnomAD-3.1.2	6.57E-06
31742	35	H/R	37	rs774491202	0.1957	None	gnomAD-4.0.0	6.5703E-06
31743	36	Y/H	38	None	0.1138	None	gnomAD-4.0.0	2.40064E-06
31744	37	I/V	39	rs749403545	0.1987	None	gnomAD-2.1.1	1.61E-05
31744	37	I/V	39	rs749403545	0.1987	None	gnomAD-3.1.2	1.31E-05
31744	37	I/V	39	rs749403545	0.1987	None	gnomAD-4.0.0	9.29536E-06
31745	38	V/G	40	rs886042114	0.0984	None	gnomAD-3.1.2	6.57E-06
31745	38	V/G	40	rs886042114	0.0984	None	gnomAD-4.0.0	6.57177E-06
31745	38	V/L	40	None	0.0984	None	gnomAD-4.0.0	6.84225E-07
31745	38	V/M	40	rs377191543	0.0984	None	gnomAD-2.1.1	3.57E-05
31745	38	V/M	40	rs377191543	0.0984	None	gnomAD-3.1.2	2.63E-05
31745	38	V/M	40	rs377191543	0.0984	None	gnomAD-4.0.0	1.79711E-05
31746	39	E/G	41	None	0.0982	None	gnomAD-4.0.0	1.20032E-06
31747	40	R/I	42	None	0.2531	None	gnomAD-4.0.0	2.40064E-06
31748	41	R/C	43	rs142525903	0.1879	None	gnomAD-2.1.1	9.89512E-04
31748	41	R/C	43	rs142525903	0.1879	None	gnomAD-3.1.2	7.42688E-04
31748	41	R/C	43	rs142525903	0.1879	None	1000 genomes	1.19808E-03
31748	41	R/C	43	rs142525903	0.1879	None	gnomAD-4.0.0	5.91154E-04
31748	41	R/H	43	rs547575746	0.1879	None	gnomAD-2.1.1	1.21E-05
31748	41	R/H	43	rs547575746	0.1879	None	1000 genomes	None
31748	41	R/H	43	rs547575746	0.1879	None	gnomAD-4.0.0	1.84739E-05
31748	41	R/L	43	None	0.1879	None	gnomAD-4.0.0	6.84219E-07
31748	41	R/S	43	rs142525903	0.1879	None	gnomAD-2.1.1	4.02E-06
31748	41	R/S	43	rs142525903	0.1879	None	gnomAD-4.0.0	6.84216E-07
31749	42	E/A	44	None	0.1942	None	gnomAD-4.0.0	1.20032E-06
31749	42	E/D	44	None	0.1942	None	gnomAD-4.0.0	6.84213E-07
31749	42	E/K	44	rs139542862	0.1942	None	gnomAD-2.1.1	8.57E-05
31749	42	E/K	44	rs139542862	0.1942	None	gnomAD-3.1.2	1.24882E-04
31749	42	E/K	44	rs139542862	0.1942	None	1000 genomes	3.99361E-04
31749	42	E/K	44	rs139542862	0.1942	None	gnomAD-4.0.0	6.07269E-05
31751	44	S/C	54	rs372132740	0.6117	None	gnomAD-2.1.1	4.02E-06
31751	44	S/C	54	rs372132740	0.6117	None	gnomAD-3.1.2	1.31E-05
31751	44	S/C	54	rs372132740	0.6117	None	gnomAD-4.0.0	3.04475E-06
31751	44	S/G	54	rs372132740	0.6117	None	gnomAD-2.1.1	4.02E-06
31751	44	S/R	54	rs753420295	0.6117	None	gnomAD-2.1.1	4.02E-06
31751	44	S/R	54	rs753420295	0.6117	None	gnomAD-4.0.0	8.8948E-06
31751	44	S/T	54	rs1223455292	0.6117	None	gnomAD-2.1.1	4.02E-06
31754	47	N/T	64	None	0.8534	None	gnomAD-4.0.0	1.59121E-06
31755	48	W/C	65	rs755654150	0.2292	None	gnomAD-2.1.1	4.02E-06
31755	48	W/C	65	rs755654150	0.2292	None	gnomAD-4.0.0	1.59124E-06
31757	50	I/T	67	rs72648259	0.5750	None	gnomAD-2.1.1	3.89211E-04
31757	50	I/T	67	rs72648259	0.5750	None	gnomAD-3.1.2	4.86311E-04
31757	50	I/T	67	rs72648259	0.5750	None	1000 genomes	3.99361E-04
31757	50	I/T	67	rs72648259	0.5750	None	gnomAD-4.0.0	5.37846E-04
31757	50	I/V	67	None	0.5750	None	gnomAD-4.0.0	1.20032E-06
31758	51	V/D	68	None	0.2119	None	gnomAD-4.0.0	1.20032E-06
31759	52	E/A	69	rs767475236	0.2087	None	gnomAD-2.1.1	4.02E-06
31759	52	E/A	69	rs767475236	0.2087	None	gnomAD-4.0.0	1.59121E-06
31761	54	E/K	75	rs727505342	0.7371	None	gnomAD-2.1.1	1.21E-05
31761	54	E/K	75	rs727505342	0.7371	None	gnomAD-3.1.2	1.97E-05
31761	54	E/K	75	rs727505342	0.7371	None	gnomAD-4.0.0	9.29459E-06
31763	56	P/L	83	None	0.6351	None	gnomAD-4.0.0	2.40064E-06
31763	56	P/S	83	None	0.6351	None	gnomAD-4.0.0	1.20032E-06
31764	57	T/N	88	rs1357116939	0.4393	None	gnomAD-4.0.0	1.20032E-06
31764	57	T/S	88	rs1175551497	0.4393	None	gnomAD-2.1.1	4.02E-06
31764	57	T/S	88	rs1175551497	0.4393	None	gnomAD-4.0.0	1.36838E-06
31766	59	S/F	90	rs191484894	0.3193	None	gnomAD-2.1.1	3.38793E-03
31766	59	S/F	90	rs191484894	0.3193	None	gnomAD-3.1.2	1.77438E-03
31766	59	S/F	90	rs191484894	0.3193	None	1000 genomes	5.99042E-03
31766	59	S/F	90	rs191484894	0.3193	None	gnomAD-4.0.0	2.17057E-03
31767	60	Y/C	91	rs1431446089	0.2524	None	gnomAD-2.1.1	4.02E-06
31767	60	Y/C	91	rs1431446089	0.2524	None	gnomAD-4.0.0	4.77354E-06
31768	61	V/F	92	None	0.4115	None	gnomAD-4.0.0	1.36839E-06
31768	61	V/L	92	rs1696890603	0.4115	None	gnomAD-4.0.0	1.36839E-06
31769	62	V/F	93	None	0.1151	None	gnomAD-4.0.0	6.84196E-07
31769	62	V/I	93	rs374445709	0.1151	None	gnomAD-2.1.1	4.64E-05
31769	62	V/I	93	rs374445709	0.1151	None	gnomAD-3.1.2	5.26E-05
31769	62	V/I	93	rs374445709	0.1151	None	gnomAD-4.0.0	1.73513E-05
31770	63	T/N	94	rs1250046145	0.4336	None	gnomAD-2.1.1	4.02E-06
31770	63	T/N	94	rs1250046145	0.4336	None	gnomAD-4.0.0	3.18231E-06
31771	64	R/K	96	rs397517760	0.8530	None	gnomAD-2.1.1	8.04E-06
31771	64	R/K	96	rs397517760	0.8530	None	gnomAD-3.1.2	1.97E-05
31771	64	R/K	96	rs397517760	0.8530	None	gnomAD-4.0.0	1.9714E-05
31774	67	K/E	99	rs762265902	0.4561	None	gnomAD-2.1.1	5.36E-05
31774	67	K/E	99	rs762265902	0.4561	None	gnomAD-3.1.2	7.23E-05
31774	67	K/E	99	rs762265902	0.4561	None	gnomAD-4.0.0	1.07814E-04
31776	69	N/S	102	rs1696881072	0.2976	None	gnomAD-4.0.0	1.36838E-06
31777	70	E/A	103	rs955172279	0.3022	None	gnomAD-3.1.2	1.97E-05
31777	70	E/A	103	rs955172279	0.3022	None	gnomAD-4.0.0	7.68565E-06
31777	70	E/D	103	None	0.3022	None	gnomAD-4.0.0	1.20033E-06
31777	70	E/K	103	rs1203504106	0.3022	None	gnomAD-2.1.1	4.02E-06
31777	70	E/K	103	rs1203504106	0.3022	None	gnomAD-3.1.2	6.57E-06
31777	70	E/K	103	rs1203504106	0.3022	None	gnomAD-4.0.0	1.85901E-06
31778	71	Y/H	104	rs540043466	0.0889	None	gnomAD-4.0.0	1.20032E-06
31778	71	Y/N	104	rs540043466	0.0889	None	gnomAD-3.1.2	6.57E-06
31778	71	Y/N	104	rs540043466	0.0889	None	gnomAD-4.0.0	6.57324E-06
31779	72	I/T	105	rs1460359915	0.1705	None	gnomAD-2.1.1	1.07E-05
31779	72	I/T	105	rs1460359915	0.1705	None	gnomAD-3.1.2	2.63E-05
31779	72	I/T	105	rs1460359915	0.1705	None	gnomAD-4.0.0	1.4872E-05
31779	72	I/V	105	rs886039071	0.1705	None	gnomAD-3.1.2	6.57E-06
31779	72	I/V	105	rs886039071	0.1705	None	gnomAD-4.0.0	6.57091E-06
31780	73	F/C	106	rs1696875038	0.1175	None	gnomAD-3.1.2	6.57E-06
31780	73	F/C	106	rs1696875038	0.1175	None	gnomAD-4.0.0	6.57073E-06
31781	74	R/L	107	rs748984928	0.1108	None	gnomAD-2.1.1	8.04E-06
31781	74	R/L	107	rs748984928	0.1108	None	gnomAD-4.0.0	1.3684E-06
31781	74	R/P	107	rs748984928	0.1108	None	gnomAD-3.1.2	6.57E-06
31781	74	R/P	107	rs748984928	0.1108	None	gnomAD-4.0.0	6.57134E-06
31781	74	R/Q	107	None	0.1108	None	gnomAD-2.1.1	1.61E-05
31781	74	R/Q	107	None	0.1108	None	gnomAD-3.1.2	3.29E-05
31781	74	R/Q	107	None	0.1108	None	gnomAD-4.0.0	1.36329E-05
31782	75	V/L	108	rs377076423	0.0954	None	gnomAD-2.1.1	8.04E-06
31782	75	V/L	108	rs377076423	0.0954	None	gnomAD-4.0.0	2.05259E-06
31782	75	V/M	108	rs377076423	0.0954	None	gnomAD-2.1.1	1.07E-05
31782	75	V/M	108	rs377076423	0.0954	None	gnomAD-3.1.2	1.97E-05
31782	75	V/M	108	rs377076423	0.0954	None	gnomAD-4.0.0	3.09833E-06
31783	76	R/T	109	rs1696869417	0.2232	None	gnomAD-3.1.2	6.57E-06
31783	76	R/T	109	rs1696869417	0.2232	None	gnomAD-4.0.0	2.02984E-06
31784	77	A/T	110	None	0.1027	None	gnomAD-4.0.0	1.20032E-06
31784	77	A/V	110	rs1553520967	0.1027	HMERF	Literature	None
31785	78	V/I	111	rs755742174	0.1027	None	gnomAD-2.1.1	4.02E-06
31785	78	V/I	111	rs755742174	0.1027	None	gnomAD-4.0.0	8.21039E-06
31786	79	N/K	112	rs869320743	0.1115	HMERF	Literature	None
31786	79	N/K	112	rs869320743	0.1115	None	gnomAD-4.0.0	1.20033E-06
31786	79	N/S	112	rs1696865626	0.1115	None	gnomAD-4.0.0	1.20032E-06
31787	80	K/N	113	rs1225133278	0.4919	None	gnomAD-2.1.1	4.02E-06
31787	80	K/N	113	rs1225133278	0.4919	None	gnomAD-4.0.0	2.0526E-06
31787	80	K/T	113	None	0.4919	None	gnomAD-4.0.0	1.3684E-06
31788	81	Y/C	114	rs397517761	0.6410	None	gnomAD-4.0.0	1.20032E-06
31788	81	Y/H	114	rs1696861248	0.6410	None	gnomAD-3.1.2	1.31E-05
31788	81	Y/H	114	rs1696861248	0.6410	None	gnomAD-4.0.0	1.31428E-05
31789	82	G/D	115	None	0.2564	None	gnomAD-4.0.0	4.77377E-06
31789	82	G/R	115	rs1450258389	0.2564	None	gnomAD-2.1.1	4.02E-06
31790	83	P/S	117	rs1235693684	0.5370	None	gnomAD-2.1.1	3.18E-05
31790	83	P/S	117	rs1235693684	0.5370	None	gnomAD-3.1.2	6.57E-06
31790	83	P/S	117	rs1235693684	0.5370	None	gnomAD-4.0.0	2.56222E-06
31791	84	G/D	118	rs869320744	0.1427	MFM HMERF	Literature	None
31791	84	G/R	118	rs1696856005	0.1427	MFM HMERF	Literature	None
31791	84	G/V	118	None	0.1427	MFM HMERF	Literature	None
31792	85	V/A	119	None	0.4378	None	gnomAD-4.0.0	6.84225E-07
31792	85	V/G	119	rs767359045	0.4378	None	gnomAD-2.1.1	4.02E-06
31792	85	V/G	119	rs767359045	0.4378	None	gnomAD-4.0.0	1.36845E-06
31792	85	V/M	119	rs994348588	0.4378	None	gnomAD-2.1.1	8.05E-06
31792	85	V/M	119	rs994348588	0.4378	None	gnomAD-3.1.2	1.31E-05
31792	85	V/M	119	rs994348588	0.4378	None	gnomAD-4.0.0	5.57713E-06
31793	86	P/A	120	None	0.3347	None	gnomAD-4.0.0	1.36846E-06
31793	86	P/L	120	rs1696849077	0.3347	None	gnomAD-4.0.0	1.44039E-05
31793	86	P/T	120	rs1466581888	0.3347	None	gnomAD-2.1.1	4.02E-06
31793	86	P/T	120	rs1466581888	0.3347	None	gnomAD-4.0.0	3.42116E-06
31794	87	V/A	121	rs2154145428	0.1918	None	gnomAD-4.0.0	3.18273E-06
31794	87	V/L	121	rs1346238621	0.1918	None	gnomAD-2.1.1	3.18E-05
31795	88	E/Q	122	None	0.2778	None	gnomAD-4.0.0	1.20032E-06
31795	88	E/V	122	rs1441773765	0.2778	None	gnomAD-2.1.1	4.02E-06
31795	88	E/V	122	rs1441773765	0.2778	None	gnomAD-4.0.0	1.59138E-06
31797	90	E/K	125	rs1381214987	0.7241	None	gnomAD-4.0.0	6.84261E-07
31797	90	E/Q	125	rs1381214987	0.7241	None	gnomAD-2.1.1	4.03E-06
31797	90	E/Q	125	rs1381214987	0.7241	None	gnomAD-4.0.0	1.36852E-06
31797	90	E/V	125	rs1183343848	0.7241	None	gnomAD-2.1.1	4.03E-06
31797	90	E/V	125	rs1183343848	0.7241	None	gnomAD-4.0.0	4.7745E-06
31798	91	P/A	126	None	0.4329	None	gnomAD-4.0.0	1.20032E-06
31799	92	I/T	127	rs1696841409	0.1809	None	gnomAD-4.0.0	1.20032E-06
31799	92	I/V	127	rs370916420	0.1809	None	gnomAD-2.1.1	6.44E-05
31799	92	I/V	127	rs370916420	0.1809	None	gnomAD-3.1.2	4.6E-05
31799	92	I/V	127	rs370916420	0.1809	None	gnomAD-4.0.0	6.01123E-05
31800	93	V/A	129	None	0.3176	None	gnomAD-4.0.0	3.60097E-06
31800	93	V/I	129	rs766203953	0.3176	None	gnomAD-2.1.1	4.03E-06
31800	93	V/I	129	rs766203953	0.3176	None	gnomAD-4.0.0	3.184E-06
31803	96	N/T	132	rs2154145420	0.2586	None	gnomAD-3.1.2	6.57E-06

Position	Domain position	SAV	RS	Q(SASA)	Source	Structural Position	Disease	AlphaMissense (IC)	AlphaMissense (N2AB)	CADD	Condel	DUET	FATHMM	M-CAP	mCSM	MetaLR	MetaSVM	MPC	MutationAssessor	MutationTaster	MutPred	MVP	PolyPhen-2	PrimateAI	PROVEAN	REVEL	Rhapsody	SIFT	Zygosity	Comments	MAF	AFR	AMR	AMS	ASJ	EAS	EUR	FIN	MDE	NFE	SAS	OTH	Site Annotation	Predicted PPI	mCSM-PPI
31709	2	P/H	rs869320739	0.1290	http://www.ncbi.nlm.nih.gov/pubmed/30666435;	2	HMERF;	0.9968	0.9984	35.0	D	None	0.36	0.414471	-1.198	0.5733	0.6398	0.478253869194	4.385	1.0	0.762	0.530606565545	0.999	0.673968195915	-8.1	0.603	0.744	None	het	Genetic analysis of genes in 12 HMERF families; co-segregates with condition (n = 1, 1 affected (total 2))	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31709	2	P/R	rs869320739	0.1290	http://www.ncbi.nlm.nih.gov/pubmed/23606733; http://www.ncbi.nlm.nih.gov/pubmed/24636144;	2	HMERF;	0.9921	0.9952	32.0	D	-0.93	0.39	0.64395	-0.808	0.3763	-0.1115	0.126169370151	4.04	1.0	0.769	0.36256342048	0.235	0.684821546078	-8.1	0.811	0.464	None	het	WES/WGS prioritisation in 12 HMERF families; dominant effect, full penetrance (n = 3, 3 affected (total 6))	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31710	3	G/S	rs770979567	0.2111	gnomAD-2.1.1	3	None	0.3359	0.3546	31.0	N	-1.127	0.67	0.11145	-1.153	0.3237	-0.4497	0.463496485926	1.635	1.0	0.365	0.264081493735	1.0	0.699509263039	-5.4	0.429	0.819	0.007	None	None	4.15E-06	0	0	0	0	None	0	None	4.15E-06	0	9.18E-06	0	None	N	None
31710	3	G/S	rs770979567	0.2111	gnomAD-3.1.2	3	None	0.3359	0.3546	31.0	N	-1.127	0.67	0.11145	-1.153	0.3237	-0.4497	0.463496485926	1.635	1.0	0.365	0.264081493735	1.0	0.699509263039	-5.4	0.429	0.819	0.007	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	None
31710	3	G/S	rs770979567	0.2111	gnomAD-4.0.0	3	None	0.3359	0.3546	31.0	N	-1.127	0.67	0.11145	-1.153	0.3237	-0.4497	0.463496485926	1.635	1.0	0.365	0.264081493735	1.0	0.699509263039	-5.4	0.429	0.819	0.007	None	None	3.11743E-06	0	1.67966E-05	0	0	None	0	1.66113E-04	3.11743E-06	2.55574E-06	0	0	None	N	None
31711	4	P/L	None	0.4810	gnomAD-4.0.0	4	None	0.1432	0.1743	35.0	D	None	0.4	0.078754	-0.7	0.5018	0.2576	0.410852780124	2.98	1.0	0.489	0.653323239085	0.997	0.485599607229	-8.08	0.485	0.705	0.016	None	None	6.88534E-07	0	0	0	0	None	0	0	6.88534E-07	9.0413E-07	0	0	None	N	None
31712	5	C/R	rs869320740	0.1477	gnomAD-2.1.1	5	None	0.8445	0.9364	33.0	N	-1.28	0.64	0.101561	-1.338	0.244	-0.6217	0.55330903894	2.01	1.0	0.551	0.637424115254	0.996	0.645527899265	-6.78	0.791	0.743	0.063	None	None	4.11E-06	0	0	0	0	None	0	None	4.11E-06	0	9.1E-06	0	None	N	None
31712	5	C/R	rs869320740	0.1477	http://www.ncbi.nlm.nih.gov/pubmed/22577215; http://www.ncbi.nlm.nih.gov/pubmed/22577218; http://www.ncbi.nlm.nih.gov/pubmed/23514108; http://www.ncbi.nlm.nih.gov/pubmed/23606733; http://www.ncbi.nlm.nih.gov/pubmed/24444549; http://www.ncbi.nlm.nih.gov/pubmed/24636144; http://www.ncbi.nlm.nih.gov/pubmed/25253871; http://www.ncbi.nlm.nih.gov/pubmed/25500009; http://www.ncbi.nlm.nih.gov/pubmed/30666435; http://www.ncbi.nlm.nih.gov/pubmed/32912888; http://www.ncbi.nlm.nih.gov/pubmed/34553419;	5	MFM; HMERF;	0.8445	0.9364	33.0	N	-1.28	0.64	0.101561	-1.338	0.244	-0.6217	0.55330903894	2.01	1.0	0.551	0.637424115254	0.996	0.645527899265	-6.78	0.791	0.743	0.063	het	Found in multiple studies with full penetrance; WES prioritisation in single family; co-segregates in 3 families tested; WES/WGS prioritisation in 12 HMERF families, full penetrance; Genetic analysis of genes in 127 undiagnosed patients, likely MFM; Genetic analysis of genes in 12 HMERF families; WES prioritisation of single US family + 45 unrelated probands; Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF; Genetic analysis of CN patient (familial)	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31712	5	C/R	rs869320740	0.1477	gnomAD-4.0.0	5	None	0.8445	0.9364	33.0	N	-1.28	0.64	0.101561	-1.338	0.244	-0.6217	0.55330903894	2.01	1.0	0.551	0.637424115254	0.996	0.645527899265	-6.78	0.791	0.743	0.063	None	None	3.43489E-06	0	0	0	0	None	1.88501E-05	0	3.43489E-06	2.7073E-06	0	1.66301E-05	None	N	None
31712	5	C/W	None	0.1477	http://www.ncbi.nlm.nih.gov/pubmed/34108290;	5	HMERF;	0.8964	0.9503	35.0	N	None	0.62	0.090194	-1.323	0.2535	-0.5982	0.522453031342	2.01	1.0	0.583	0.343101102393	0.999	0.61898869276	-7.15	0.399	0.679	0.014	het	Genetic analysis of single KR family with HMERF; co-segregates with condition (n = 2, 2 affected (total 2), 2 predeceased with similar pathology)	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31712	5	C/Y	None	0.1477	http://www.ncbi.nlm.nih.gov/pubmed/25253871;	5	MFM; HMERF;	0.7862	0.8868	35.0	N	-1.682	0.64	0.323025	-1.158	0.2617	-0.6289	0.557958373062	2.01	0.999952	0.485	0.515430650102	0.996	0.66642922163	-6.83	0.723	0.674	0.028	het	Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31716	9	T/N	rs879097606	0.4015	gnomAD-4.0.0	11	None	0.0955	0.112	33.0	N	None	0.31	0.035246	-0.325	0.3192	-0.4667	0.385700388264	1.74	0.995628	0.41	0.359557344763	0.998	0.470650672913	-3.15	0.259	0.504	0.078	None	None	1.59902E-06	0	0	0	0	None	0	0	1.59902E-06	2.87495E-06	0	0	None	N	None
31716	9	T/S	None	0.4015	gnomAD-4.0.0	11	None	0.085	0.0976	26.7	N	None	0.46	0.075368	-0.614	0.1675	-0.7828	0.151187822174	0.98	0.957309	0.474	0.228597637076	0.828	0.408800601959	-2.35	0.142	0.476	0.113	None	None	1.59929E-06	0	0	0	0	None	0	0	1.59929E-06	2.87578E-06	0	0	None	N	None
31717	10	V/I	rs150930737	0.3286	gnomAD-2.1.1	12	None	0.0657	0.0709	None	N	-0.378	None	None	-0.461	None	None	None	None	None	None	None	0.003	None	None	0.084	0.141	None	None	None	6.85E-05	4.14E-05	8.52E-05	0	0	None	3.31E-05	None	6.85E-05	0	1.10751E-04	0	None	N	None
31717	10	V/I	rs150930737	0.3286	gnomAD-3.1.2	12	None	0.0657	0.0709	None	N	-0.378	None	None	-0.461	None	None	None	None	None	None	None	0.003	None	None	0.084	0.141	None	None	None	3.94E-05	2.41E-05	1.30873E-04	0	0	None	0	0	3.94E-05	2.94E-05	2.07297E-04	0	None	N	None
31717	10	V/I	rs150930737	0.3286	1000 genomes	12	None	0.0657	0.0709	None	N	-0.378	None	None	-0.461	None	None	None	None	None	None	None	0.003	None	None	0.084	0.141	None	None	None	1.99681E-04	8E-04	0	None	0	0	None	None	1.99681E-04	None	0	None	None	N	None
31717	10	V/I	rs150930737	0.3286	gnomAD-4.0.0	12	None	0.0657	0.0709	None	N	-0.378	None	None	-0.461	None	None	None	None	None	None	None	0.003	None	None	0.084	0.141	None	None	None	3.53841E-05	9.33607E-05	8.34251E-05	0	0	None	1.56573E-05	1.65453E-04	3.53841E-05	2.54709E-05	8.81154E-05	8.01847E-05	None	N	None
31718	11	S/I	rs758006837	0.3312	gnomAD-2.1.1	13	None	0.2815	0.3229	None	N	0.063	None	None	-0.184	None	None	None	None	None	None	None	0.994	None	None	0.403	0.698	None	None	None	2.88E-05	0	0	0	0	None	0	None	2.88E-05	0	6.32E-05	0	None	N	None
31718	11	S/I	rs758006837	0.3312	gnomAD-3.1.2	13	None	0.2815	0.3229	None	N	0.063	None	None	-0.184	None	None	None	None	None	None	None	0.994	None	None	0.403	0.698	None	None	None	3.29E-05	2.41E-05	0	0	0	None	0	0	3.29E-05	5.88E-05	0	0	None	N	None
31718	11	S/I	rs758006837	0.3312	gnomAD-4.0.0	13	None	0.2815	0.3229	None	N	0.063	None	None	-0.184	None	None	None	None	None	None	None	0.994	None	None	0.403	0.698	None	None	None	8.74991E-05	4.00588E-05	0	0	0	None	0	0	8.74991E-05	1.10336E-04	0	1.28271E-04	None	N	None
31718	11	S/N	None	0.3312	gnomAD-4.0.0	13	None	0.1937	0.2217	27.6	N	None	0.23	0.053876	-0.269	0.27	-0.5484	0.107153835273	2.13	0.999951	0.408	0.242244723065	0.4	0.612805485725	-2.37	0.219	0.268	0.082	None	None	6.85286E-07	0	0	0	0	None	0	0	6.85286E-07	9.00743E-07	0	0	None	N	None
31718	11	S/R	rs781462223	0.3312	gnomAD-2.1.1	13	None	0.73	0.7457	35.0	N	-0.151	0.27	0.058011	-0.341	0.4199	-0.1666	0.425696506401	2.095	0.999996	0.51	0.476908202251	0.997	0.621730327606	-3.97	0.589	0.617	0.03	None	None	5.27E-05	0	0	0	0	None	4.27603E-04	None	5.27E-05	0	0	0	None	N	None
31718	11	S/R	rs781462223	0.3312	gnomAD-4.0.0	13	None	0.73	0.7457	35.0	N	-0.151	0.27	0.058011	-0.341	0.4199	-0.1666	0.425696506401	2.095	0.999996	0.51	0.476908202251	0.997	0.621730327606	-3.97	0.589	0.617	0.03	None	None	6.85142E-07	0	0	0	0	None	0	0	6.85142E-07	9.00586E-07	0	0	None	N	None
31719	12	R/K	None	0.7406	gnomAD-4.0.0	14	None	0.152	0.1711	29.8	N	None	0.44	0.088792	-0.117	0.2326	-0.5968	0.462811898634	0.05	0.999598	0.508	0.29385284311	0.997	0.585062384605	-1.8	0.307	0.538	0.403	None	None	1.5955E-06	0	0	0	0	None	0	0	1.5955E-06	2.86781E-06	0	0	None	N	None
31720	13	V/A	None	0.2372	gnomAD-4.0.0	15	None	0.5476	0.5615	27.9	N	None	0.26	0.030173	-1.198	0.2535	-0.5752	0.129564647105	1.755	0.997195	0.624	0.596957824077	0.334	0.544869661331	-3.33	0.386	0.487	0.005	None	None	1.59454E-06	0	0	0	0	None	0	0	1.59454E-06	0	0	3.0281E-05	None	N	None
31720	13	V/E	rs1696965426	0.2372	gnomAD-3.1.2	15	None	0.7342	0.7694	34.0	N	None	0.25	0.051124	-1.017	0.4557	0.0726	0.379909709384	3.05	0.999848	0.752	0.674931257369	0.781	0.531563043594	-5.07	0.575	0.646	0.001	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31720	13	V/E	rs1696965426	0.2372	gnomAD-4.0.0	15	None	0.7342	0.7694	34.0	N	None	0.25	0.051124	-1.017	0.4557	0.0726	0.379909709384	3.05	0.999848	0.752	0.674931257369	0.781	0.531563043594	-5.07	0.575	0.646	0.001	None	None	6.57428E-06	2.41441E-05	0	0	0	None	0	0	6.57428E-06	0	0	0	None	N	None
31720	13	V/I	rs1575443877	0.2372	gnomAD-4.0.0	15	None	0.0713	0.0734	23.3	N	None	0.4	0.015347	-0.664	0.119	-0.9083	0.0693580137507	1.02	0.783856	0.486	0.270447802918	0.002	0.41344588995	-0.62	0.072	0.213	0.251	None	None	1.59457E-06	0	0	0	0	None	0	0	1.59457E-06	0	0	3.02737E-05	None	N	None
31721	14	T/I	None	0.1933	gnomAD-4.0.0	16	None	0.7582	0.781	35.0	N	None	0.15	0.161916	-0.065	0.5259	0.2059	0.480749730577	3.035	1.0	0.522	0.515715180578	1.0	0.724783480167	-5.17	0.527	0.755	0.004	None	None	6.84617E-07	0	0	0	0	None	0	0	6.84617E-07	8.99956E-07	0	0	None	N	None
31723	16	E/K	rs1225039103	0.5183	gnomAD-2.1.1	18	None	0.6829	0.6814	35.0	N	-0.021	0.44	0.055397	-0.254	0.3662	-0.3421	0.489131336793	1.39	1.0	0.628	0.355450299083	0.999	0.683223247528	-3.4	0.4	0.579	0.009	None	None	4.04E-06	0	0	0	0	None	3.27E-05	None	4.04E-06	0	0	0	None	N	None
31723	16	E/K	rs1225039103	0.5183	gnomAD-4.0.0	18	None	0.6829	0.6814	35.0	N	-0.021	0.44	0.055397	-0.254	0.3662	-0.3421	0.489131336793	1.39	1.0	0.628	0.355450299083	0.999	0.683223247528	-3.4	0.4	0.579	0.009	None	None	1.59239E-06	0	0	0	0	None	0	0	1.59239E-06	0	1.43349E-05	0	None	N	None
31724	17	K/Q	rs1322640877	0.5477	gnomAD-2.1.1	19	None	0.3846	0.4196	35.0	N	-1.035	0.43	0.02812	-0.773	0.3076	-0.45	0.478647829999	1.58	0.999982	0.533	0.214338557667	1.0	0.669890522957	-2.83	0.408	0.692	0.036	None	None	4.03E-06	0	0	0	0	None	0	None	4.03E-06	0	8.93E-06	0	None	N	None
31724	17	K/Q	rs1322640877	0.5477	gnomAD-4.0.0	19	None	0.3846	0.4196	35.0	N	-1.035	0.43	0.02812	-0.773	0.3076	-0.45	0.478647829999	1.58	0.999982	0.533	0.214338557667	1.0	0.669890522957	-2.83	0.408	0.692	0.036	None	None	1.59222E-06	0	0	0	0	None	0	0	1.59222E-06	2.86017E-06	0	0	None	N	None
31725	18	C/G	None	0.0914	gnomAD-4.0.0	20	None	0.6022	0.6873	35.0	N	None	0.48	0.098386	-1.795	0.4764	0.2089	0.515532960109	2.915	1.0	0.643	0.848252707701	1.0	0.795032978058	-9.4	0.595	0.841	0.001	None	None	6.84342E-07	0	0	0	0	None	0	0	6.84342E-07	8.99603E-07	0	0	None	N	None
31725	18	C/R	rs1295856798	0.0914	gnomAD-3.1.2	20	None	0.9956	0.997	35.0	N	None	0.44	0.12374	-1.096	0.4764	0.2089	0.615612516959	2.915	1.0	0.621	0.840290290131	1.0	0.863804221153	-9.43	0.608	0.886	0.002	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	None
31725	18	C/R	rs1295856798	0.0914	gnomAD-4.0.0	20	None	0.9956	0.997	35.0	N	None	0.44	0.12374	-1.096	0.4764	0.2089	0.615612516959	2.915	1.0	0.621	0.840290290131	1.0	0.863804221153	-9.43	0.608	0.886	0.002	None	None	1.85936E-06	0	0	0	0	None	0	0	1.85936E-06	2.54318E-06	0	0	None	N	None
31726	19	T/A	rs761422470	0.2113	gnomAD-2.1.1	21	None	0.1857	0.1998	35.0	D	-1.068	0.31	0.035651	-0.934	0.3508	-0.3217	0.400853539877	2.075	0.999998	0.533	0.225215365344	0.998	0.587307155132	-4.12	0.502	0.473	0.018	None	None	4.03E-06	0	0	0	0	None	0	None	4.03E-06	0	0	1.66058E-04	None	N	None
31726	19	T/A	rs761422470	0.2113	gnomAD-4.0.0	21	None	0.1857	0.1998	35.0	D	-1.068	0.31	0.035651	-0.934	0.3508	-0.3217	0.400853539877	2.075	0.999998	0.533	0.225215365344	0.998	0.587307155132	-4.12	0.502	0.473	0.018	None	None	2.73723E-06	0	0	0	0	None	0	3.47222E-04	2.73723E-06	1.79914E-06	0	0	None	N	None
31726	19	T/S	None	0.2113	gnomAD-4.0.0	21	None	0.1738	0.186	34.0	N	None	0.39	0.048039	-1.197	0.2695	-0.5958	0.345281913784	1.785	0.999987	0.554	0.199424873507	0.996	0.592045545578	-3.05	0.401	0.479	0.085	None	None	1.36861E-06	0	0	0	0	None	0	0	1.36861E-06	1.79914E-06	0	0	None	N	None
31727	20	L/S	None	0.1170	gnomAD-4.0.0	22	None	0.9842	0.9905	35.0	D	None	-0.16	0.145489	-2.937	0.5945	0.545	0.49287828436	4.14	0.999887	0.738	0.871487081793	0.994	0.621750354767	-4.93	0.685	0.795	0.001	None	None	2.40064E-06	0	0	1.94099E-04	0	None	0	0	2.40064E-06	1.3125E-06	0	0	None	N	None
31728	21	A/S	rs1360534996	0.2173	gnomAD-3.1.2	23	None	0.0726	0.077	24.7	N	None	0.73	0.014747	-1.385	0.0547	-1.0047	0.0860152842358	-1.075	0.520624	0.361	0.184867976434	0.025	0.507393538952	-0.67	0.077	0.331	0.629	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	None
31728	21	A/S	rs1360534996	0.2173	gnomAD-4.0.0	23	None	0.0726	0.077	24.7	N	None	0.73	0.014747	-1.385	0.0547	-1.0047	0.0860152842358	-1.075	0.520624	0.361	0.184867976434	0.025	0.507393538952	-0.67	0.077	0.331	0.629	None	None	6.57004E-06	0	0	0	0	None	0	0	6.57004E-06	1.47003E-05	0	0	None	N	None
31728	21	A/T	None	0.2173	gnomAD-4.0.0	23	None	0.0729	0.0738	25.7	N	None	0.53	0.056105	-1.19	0.0972	-0.7507	0.22973312364	0.025	0.727958	0.404	0.313818047136	0.698	0.544990062714	-2.2	0.102	0.467	0.304	None	None	3.18359E-06	0	0	0	0	None	0	0	3.18359E-06	5.7186E-06	0	0	None	N	None
31729	22	W/C	rs869320742	0.1251	http://www.ncbi.nlm.nih.gov/pubmed/23606733; http://www.ncbi.nlm.nih.gov/pubmed/24636144; http://www.ncbi.nlm.nih.gov/pubmed/29997562; http://www.ncbi.nlm.nih.gov/pubmed/30666435;	24	HMERF;	0.9937	0.9945	35.0	D	-1.772	-2.1	0.906106	-2.137	0.9126	1.075	0.580146131267	4.065	1.0	0.88	0.905035043352	1.0	0.737920999527	-11.7	0.956	0.865	None	het	WES/WGS prioritisation in 12 HMERF families; dominant effect, full penetrance (n = 2, 2 affected (total 4)); Genetic analysis of genes in 12 HMERF families (n = 4, 4 affected)	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31729	22	W/C	rs869320742	0.1251	gnomAD-4.0.0	24	None	0.9937	0.9945	35.0	D	-1.772	-2.1	0.906106	-2.137	0.9126	1.075	0.580146131267	4.065	1.0	0.88	0.905035043352	1.0	0.737920999527	-11.7	0.956	0.865	None	None	None	6.1583E-06	0	0	0	0	None	0	0	6.1583E-06	8.09561E-06	0	0	None	N	None
31729	22	W/L	rs786205367	0.1251	http://www.ncbi.nlm.nih.gov/pubmed/23446887;	24	MFM; HMERF;	0.9589	0.9639	35.0	D	-2.41	-2.05	0.886584	-2.078	0.8963	1.0594	0.615072577956	4.065	1.0	0.817	0.947208517384	1.0	0.743577480316	-11.7	0.903	0.851	None	het	Genetic analysis of single JP family; co-segregates within family (n = 5, 5 affected (total 10)); linkage analysis; not found in ethnic controls	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31729	22	W/R	rs869320741	0.1251	http://www.ncbi.nlm.nih.gov/pubmed/23606733; http://www.ncbi.nlm.nih.gov/pubmed/24636144; http://www.ncbi.nlm.nih.gov/pubmed/34553419;	24	HMERF;	0.999	0.9992	34.0	D	-2.066	-2.1	0.826566	-2.347	0.9048	1.0871	0.615612516959	4.41	1.0	0.866	0.922935033018	1.0	0.772392213345	-12.6	0.934	0.917	None	het	WES/WGS prioritisation in 12 HMERF families; dominant effect, unknown penetrance	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31730	23	S/C	rs1213250473	0.3546	gnomAD-4.0.0	25	None	0.0932	0.0987	26.4	N	None	0.23	0.051686	-0.459	0.2691	-0.4844	0.205046829069	1.335	0.991249	0.594	0.40032279838	0.851	0.369446098804	-3.65	0.282	0.429	0.019	None	None	6.15831E-06	0	0	0	0	None	0	0	6.15831E-06	8.09556E-06	0	0	None	N	None
31730	23	S/G	rs1213250473	0.3546	gnomAD-2.1.1	25	None	0.0743	0.0722	25.3	N	-0.861	0.26	0.027417	-0.835	0.1554	-0.8744	0.0842442114282	0.295	0.962798	0.56	0.144782658237	0.042	0.340060412884	-2.3	0.13	0.241	0.24	None	None	4.03E-06	0	0	0	0	None	0	None	4.03E-06	0	8.92E-06	0	None	N	None
31730	23	S/G	rs1213250473	0.3546	gnomAD-4.0.0	25	None	0.0743	0.0722	25.3	N	-0.861	0.26	0.027417	-0.835	0.1554	-0.8744	0.0842442114282	0.295	0.962798	0.56	0.144782658237	0.042	0.340060412884	-2.3	0.13	0.241	0.24	None	None	6.84257E-07	0	0	0	0	None	0	0	6.84257E-07	8.99507E-07	0	0	None	N	None
31730	23	S/N	rs2555816	0.3546	gnomAD-4.0.0	25	None	0.0629	0.0608	25.5	N	None	0.32	0.025395	-0.531	0.0862	-1.0504	0.0778949114422	0.135	0.97774	0.524	0.0551355673512	None	0.381716907024	-0.82	0.073	0.103	0.216	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31731	24	L/I	rs1364685585	0.7106	gnomAD-2.1.1	26	None	0.072	0.08	25.1	N	-0.643	0.44	0.026084	-0.592	0.0876	-1.009	0.0908942553913	-0.285	0.931437	0.37	0.230578612272	None	0.508881211281	-0.78	0.06	0.079	0.514	None	None	4.03E-06	0	2.9E-05	0	0	None	0	None	4.03E-06	0	0	0	None	N	None
31731	24	L/I	rs1364685585	0.7106	gnomAD-4.0.0	26	None	0.072	0.08	25.1	N	-0.643	0.44	0.026084	-0.592	0.0876	-1.009	0.0908942553913	-0.285	0.931437	0.37	0.230578612272	None	0.508881211281	-0.78	0.06	0.079	0.514	None	None	1.59148E-06	0	0	0	0	None	0	0	1.59148E-06	0	0	3.02444E-05	None	N	None
31732	25	P/L	rs753334568	0.1839	gnomAD-2.1.1	27	None	0.9061	0.9487	35.0	D	-0.671	-0.83	0.343457	-0.762	0.7892	0.8939	0.469182032742	4.295	1.0	0.791	0.908895312635	1.0	0.702523589134	-9.0	0.727	0.888	None	None	None	1.21E-05	0	0	0	0	None	3.27E-05	None	1.21E-05	0	1.78E-05	0	None	N	None
31732	25	P/L	rs753334568	0.1839	gnomAD-3.1.2	27	None	0.9061	0.9487	35.0	D	-0.671	-0.83	0.343457	-0.762	0.7892	0.8939	0.469182032742	4.295	1.0	0.791	0.908895312635	1.0	0.702523589134	-9.0	0.727	0.888	None	None	None	1.31E-05	0	0	0	0	None	0	0	1.31E-05	2.94E-05	0	0	None	N	None
31732	25	P/L	rs753334568	0.1839	http://www.ncbi.nlm.nih.gov/pubmed/22526018; http://www.ncbi.nlm.nih.gov/pubmed/23486992; http://www.ncbi.nlm.nih.gov/pubmed/23606733; http://www.ncbi.nlm.nih.gov/pubmed/24636144; http://www.ncbi.nlm.nih.gov/pubmed/25500009; http://www.ncbi.nlm.nih.gov/pubmed/33449170; http://www.ncbi.nlm.nih.gov/pubmed/34670883;	27	CM; HMERF;	0.9061	0.9487	35.0	D	-0.671	-0.83	0.343457	-0.762	0.7892	0.8939	0.469182032742	4.295	1.0	0.791	0.908895312635	1.0	0.702523589134	-9.0	0.727	0.888	None	hom / comp het with R34091W	Incomplete penetrance, more severe when homozygous; Found in genetic analysis of TTN in 30 CM patients (homozygous); genetic analysis of genes in 127 undiagnosed patients (likely MFM); WES/WGS prioritisation in 12 HMERF families; genetic analysis in single NMD patient (heterozygous); genetic analysis of CN patient (sporadic) and unaffected carrier (brother); Domain unfolded in vitro (Tm 17 degrees lower than WT)	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31732	25	P/L	rs753334568	0.1839	gnomAD-4.0.0	27	None	0.9061	0.9487	35.0	D	-0.671	-0.83	0.343457	-0.762	0.7892	0.8939	0.469182032742	4.295	1.0	0.791	0.908895312635	1.0	0.702523589134	-9.0	0.727	0.888	None	None	None	9.29582E-06	0	1.66706E-05	0	0	None	0	0	9.29582E-06	1.01715E-05	1.09786E-05	1.60123E-05	None	N	None
31732	25	P/R	None	0.1839	gnomAD-4.0.0	27	None	0.9881	0.9928	35.0	D	None	-0.87	0.305465	-0.9	0.7441	0.7319	0.4773412541	3.49	1.0	0.817	0.817229753402	1.0	0.694204866886	-8.1	0.764	0.879	None	None	None	6.84245E-07	0	0	0	0	None	0	0	6.84245E-07	0	1.15937E-05	0	None	N	None
31735	28	D/H	None	0.3261	gnomAD-4.0.0	30	None	0.7492	0.8421	34.0	N	None	0.3	0.109803	-0.617	0.5153	0.1624	0.503932569898	3.285	1.0	0.444	0.434272847907	1.0	0.631531894207	-5.83	0.562	0.637	None	None	None	1.36847E-06	0	0	0	0	None	0	0	1.36847E-06	1.79898E-06	0	0	None	I	None
31735	28	D/V	rs760640290	0.3261	gnomAD-2.1.1	30	None	0.6031	0.7668	35.0	N	0.191	0.32	0.142792	0.108	0.5129	0.2634	0.551701854119	2.89	1.0	0.547	0.744084085339	1.0	0.565736472607	-7.77	0.595	0.712	None	None	None	4.03E-06	0	0	0	0	None	3.27E-05	None	4.03E-06	0	0	0	None	I	None
31735	28	D/V	rs760640290	0.3261	gnomAD-4.0.0	30	None	0.6031	0.7668	35.0	N	0.191	0.32	0.142792	0.108	0.5129	0.2634	0.551701854119	2.89	1.0	0.547	0.744084085339	1.0	0.565736472607	-7.77	0.595	0.712	None	None	None	3.18276E-06	0	0	0	0	None	0	0	3.18276E-06	0	1.43279E-05	3.02425E-05	None	I	None
31736	29	G/A	rs1401862112	0.3009	gnomAD-4.0.0	31	None	0.9151	0.9515	33.0	D	None	0.42	0.162239	-0.201	0.5315	0.3314	0.480971576196	3.26	1.0	0.554	0.341226946553	1.0	0.574804663658	-5.4	0.555	0.727	None	None	None	4.10542E-06	0	0	0	0	None	0	0	4.10542E-06	5.39694E-06	0	0	None	I	None
31736	29	G/E	rs1401862112	0.3009	gnomAD-2.1.1	31	None	0.996	0.9975	34.0	D	-0.569	0.44	0.440336	-0.542	0.5628	0.4588	0.526218639335	3.75	1.0	0.639	0.630653710976	1.0	0.642987132072	-7.2	0.673	0.847	None	None	None	3.19E-05	0	0	0	0	None	0	None	3.19E-05	2.87853E-04	0	0	None	I	None
31736	29	G/E	rs1401862112	0.3009	gnomAD-3.1.2	31	None	0.996	0.9975	34.0	D	-0.569	0.44	0.440336	-0.542	0.5628	0.4588	0.526218639335	3.75	1.0	0.639	0.630653710976	1.0	0.642987132072	-7.2	0.673	0.847	None	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	I	None
31736	29	G/E	rs1401862112	0.3009	gnomAD-4.0.0	31	None	0.996	0.9975	34.0	D	-0.569	0.44	0.440336	-0.542	0.5628	0.4588	0.526218639335	3.75	1.0	0.639	0.630653710976	1.0	0.642987132072	-7.2	0.673	0.847	None	None	None	6.57065E-06	0	0	0	0	None	0	0	6.57065E-06	1.46994E-05	0	0	None	I	None
31736	29	G/R	rs771799061	0.3009	gnomAD-2.1.1	31	None	0.9837	0.9891	34.0	N	-0.42	0.44	0.198204	-0.224	0.4683	0.0619	0.506463245118	2.83	1.0	0.639	0.66194393445	1.0	0.662546098232	-7.2	0.606	0.827	None	None	None	8.06E-06	0	2.9E-05	0	0	None	3.27E-05	None	8.06E-06	0	0	0	None	I	None
31736	29	G/R	rs771799061	0.3009	gnomAD-3.1.2	31	None	0.9837	0.9891	34.0	N	-0.42	0.44	0.198204	-0.224	0.4683	0.0619	0.506463245118	2.83	1.0	0.639	0.66194393445	1.0	0.662546098232	-7.2	0.606	0.827	None	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	0	2.06868E-04	0	None	I	None
31736	29	G/R	rs771799061	0.3009	gnomAD-4.0.0	31	None	0.9837	0.9891	34.0	N	-0.42	0.44	0.198204	-0.224	0.4683	0.0619	0.506463245118	2.83	1.0	0.639	0.66194393445	1.0	0.662546098232	-7.2	0.606	0.827	None	None	None	8.6759E-06	0	1.66672E-05	0	6.69135E-05	None	0	1.64528E-04	8.6759E-06	5.93339E-06	2.19568E-05	0	None	I	None
31737	30	G/E	rs1696939367	0.5606	gnomAD-3.1.2	32	None	0.9205	0.9261	34.0	D	None	-0.13	0.239999	-0.516	0.5827	0.3436	0.526218639335	3.04	1.0	0.454	0.683185250435	1.0	0.680708289146	-7.2	0.66	0.793	None	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	I	None
31737	30	G/E	rs1696939367	0.5606	gnomAD-4.0.0	32	None	0.9205	0.9261	34.0	D	None	-0.13	0.239999	-0.516	0.5827	0.3436	0.526218639335	3.04	1.0	0.454	0.683185250435	1.0	0.680708289146	-7.2	0.66	0.793	None	None	None	6.57099E-06	0	0	0	0	None	0	0	6.57099E-06	1.46985E-05	0	0	None	I	None
31739	32	E/D	None	0.8632	gnomAD-4.0.0	34	None	0.0898	0.0912	24.2	N	None	0.35	0.010112	-0.201	0.0943	-0.9845	0.0867052795859	0.585	0.94924	0.445	0.110078149338	0.024	0.378312498331	-1.47	0.025	0.272	0.249	None	None	6.84219E-07	0	0	0	0	None	0	0	6.84219E-07	8.99475E-07	0	0	None	I	None
31740	33	I/T	rs200781956	0.2297	gnomAD-2.1.1	35	None	0.8765	0.9222	None	D	-2.375	None	None	-2.082	None	None	None	None	None	None	None	0.062	None	None	0.473	0.711	None	None	None	8.05E-06	1.29199E-04	0	0	0	None	0	None	8.05E-06	0	0	0	None	I	None
31740	33	I/T	rs200781956	0.2297	gnomAD-3.1.2	35	None	0.8765	0.9222	None	D	-2.375	None	None	-2.082	None	None	None	None	None	None	None	0.062	None	None	0.473	0.711	None	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	I	None
31740	33	I/T	rs200781956	0.2297	gnomAD-4.0.0	35	None	0.8765	0.9222	None	D	-2.375	None	None	-2.082	None	None	None	None	None	None	None	0.062	None	None	0.473	0.711	None	None	None	6.57186E-06	2.41289E-05	0	0	0	None	0	0	6.57186E-06	0	0	0	None	I	None
31740	33	I/V	None	0.2297	gnomAD-4.0.0	35	None	0.1003	0.1356	23.5	N	None	0.21	0.015155	-1.532	0.1281	-0.94	0.0704899027279	0.355	0.97344	0.533	0.415055319159	None	0.540414512157	-0.61	0.121	0.128	0.369	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	I	None
31742	35	H/D	None	0.1957	gnomAD-4.0.0	37	None	0.5909	0.4798	33.0	N	None	0.45	0.078955	-0.702	0.3761	-0.3079	0.540324238068	1.645	1.0	0.581	0.439763647824	1.0	0.753438413143	-6.6	0.505	0.722	0.044	None	None	1.36845E-06	0	0	0	0	None	0	0	1.36845E-06	1.79894E-06	0	0	None	N	None
31742	35	H/Q	rs771123318	0.1957	gnomAD-2.1.1	37	None	0.5493	0.4492	28.1	N	-0.266	0.44	0.029906	-0.593	0.3524	-0.2835	0.464746737721	2.38	0.999919	0.53	0.453024522228	1.0	0.738911509514	-5.83	0.442	0.686	0.008	None	None	4.03E-06	6.46E-05	0	0	0	None	0	None	4.03E-06	0	0	0	None	N	None
31742	35	H/Q	rs771123318	0.1957	gnomAD-3.1.2	37	None	0.5493	0.4492	28.1	N	-0.266	0.44	0.029906	-0.593	0.3524	-0.2835	0.464746737721	2.38	0.999919	0.53	0.453024522228	1.0	0.738911509514	-5.83	0.442	0.686	0.008	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31742	35	H/Q	rs771123318	0.1957	gnomAD-4.0.0	37	None	0.5493	0.4492	28.1	N	-0.266	0.44	0.029906	-0.593	0.3524	-0.2835	0.464746737721	2.38	0.999919	0.53	0.453024522228	1.0	0.738911509514	-5.83	0.442	0.686	0.008	None	None	6.57099E-06	2.41208E-05	0	0	0	None	0	0	6.57099E-06	0	0	0	None	N	None
31742	35	H/R	rs774491202	0.1957	gnomAD-2.1.1	37	None	0.3645	0.2797	34.0	N	-1.008	0.49	0.038587	-1.076	0.2987	-0.4753	0.509939644612	1.54	1.0	0.598	0.347217280506	1.0	0.759366393089	-5.7	0.496	0.659	0.006	None	None	4.03E-06	6.46E-05	0	0	0	None	0	None	4.03E-06	0	0	0	None	N	None
31742	35	H/R	rs774491202	0.1957	gnomAD-3.1.2	37	None	0.3645	0.2797	34.0	N	-1.008	0.49	0.038587	-1.076	0.2987	-0.4753	0.509939644612	1.54	1.0	0.598	0.347217280506	1.0	0.759366393089	-5.7	0.496	0.659	0.006	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31742	35	H/R	rs774491202	0.1957	gnomAD-4.0.0	37	None	0.3645	0.2797	34.0	N	-1.008	0.49	0.038587	-1.076	0.2987	-0.4753	0.509939644612	1.54	1.0	0.598	0.347217280506	1.0	0.759366393089	-5.7	0.496	0.659	0.006	None	None	6.5703E-06	2.41243E-05	0	0	0	None	0	0	6.5703E-06	0	0	0	None	N	None
31743	36	Y/H	None	0.1138	gnomAD-4.0.0	38	None	0.9026	0.8799	35.0	D	None	-1.46	0.392808	-2.51	0.8381	1.0062	0.52537510995	4.255	0.999999	0.788	0.754091465348	1.0	0.794683933258	-4.5	0.871	0.795	None	None	None	2.40064E-06	0	0	0	0	None	0	0	2.40064E-06	1.3125E-06	0	3.66327E-05	None	N	None
31744	37	I/V	rs749403545	0.1987	gnomAD-2.1.1	39	None	0.071	0.0669	25.7	N	-1.62	0.46	0.016471	-1.855	0.0901	-1.0535	0.0722674987003	0.005	0.977625	0.289	0.372087925617	0.016	0.514977753162	-0.63	0.029	0.243	0.436	None	None	1.61E-05	6.46E-05	2.9E-05	0	0	None	0	None	1.61E-05	0	1.78E-05	0	None	I	None
31744	37	I/V	rs749403545	0.1987	gnomAD-3.1.2	39	None	0.071	0.0669	25.7	N	-1.62	0.46	0.016471	-1.855	0.0901	-1.0535	0.0722674987003	0.005	0.977625	0.289	0.372087925617	0.016	0.514977753162	-0.63	0.029	0.243	0.436	None	None	1.31E-05	2.41E-05	0	0	0	None	0	0	1.31E-05	1.47E-05	0	0	None	I	None
31744	37	I/V	rs749403545	0.1987	gnomAD-4.0.0	39	None	0.071	0.0669	25.7	N	-1.62	0.46	0.016471	-1.855	0.0901	-1.0535	0.0722674987003	0.005	0.977625	0.289	0.372087925617	0.016	0.514977753162	-0.63	0.029	0.243	0.436	None	None	9.29536E-06	2.66951E-05	1.66678E-05	0	0	None	0	0	9.29536E-06	1.01713E-05	0	0	None	I	None
31745	38	V/G	rs886042114	0.0984	gnomAD-3.1.2	40	None	0.9232	0.901	35.0	D	None	-0.37	0.14743	-2.992	0.6468	0.6518	0.470077644791	4.02	1.0	0.665	0.896930761969	0.983	0.534128785133	-6.3	0.724	0.899	None	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	None
31745	38	V/G	rs886042114	0.0984	gnomAD-4.0.0	40	None	0.9232	0.901	35.0	D	None	-0.37	0.14743	-2.992	0.6468	0.6518	0.470077644791	4.02	1.0	0.665	0.896930761969	0.983	0.534128785133	-6.3	0.724	0.899	None	None	None	6.57177E-06	0	0	0	0	None	0	0	6.57177E-06	1.47003E-05	0	0	None	N	None
31745	38	V/L	None	0.0984	gnomAD-4.0.0	40	None	0.2823	0.2445	24.1	N	None	-0.07	0.029929	-0.622	0.2258	-0.6452	0.20217626629	1.745	0.99984	0.518	0.571897645862	0.598	0.633503139019	-2.63	0.208	0.493	0.065	None	None	6.84225E-07	0	0	0	0	None	1.87294E-05	0	6.84225E-07	0	0	0	None	N	None
31745	38	V/M	rs377191543	0.0984	gnomAD-2.1.1	40	None	0.4794	0.4185	None	D	-1.212	None	None	-0.874	None	None	None	None	None	None	None	0.994	None	None	0.507	0.693	None	None	None	3.57E-05	8.26E-05	2.83E-05	0	1.02764E-04	None	3.27E-05	None	3.57E-05	4E-05	2.35E-05	0	None	N	None
31745	38	V/M	rs377191543	0.0984	gnomAD-3.1.2	40	None	0.4794	0.4185	None	D	-1.212	None	None	-0.874	None	None	None	None	None	None	None	0.994	None	None	0.507	0.693	None	None	None	2.63E-05	7.24E-05	6.54E-05	0	0	None	0	0	2.63E-05	0	0	0	None	N	None
31745	38	V/M	rs377191543	0.0984	gnomAD-4.0.0	40	None	0.4794	0.4185	None	D	-1.212	None	None	-0.874	None	None	None	None	None	None	None	0.994	None	None	0.507	0.693	None	None	None	1.79711E-05	8.00918E-05	1.66683E-05	0	4.45891E-05	None	1.56211E-05	0	1.79711E-05	1.35619E-05	3.2933E-05	0	None	N	None
31746	39	E/G	None	0.0982	gnomAD-4.0.0	41	None	0.9306	0.9155	35.0	D	None	0.26	0.045045	-1.726	0.5548	0.43	0.500420847697	4.19	0.999999	0.544	0.500050830518	1.0	0.687032699585	-6.3	0.584	0.799	0.002	None	None	1.20032E-06	6.33473E-05	0	0	0	None	0	0	1.20032E-06	0	0	0	None	N	None
31747	40	R/I	None	0.2531	gnomAD-4.0.0	42	None	0.861	0.8821	32.0	N	None	0.48	0.096974	-0.956	0.3374	-0.4328	0.615612516959	1.53	1.0	0.606	0.627195870872	1.0	0.754267275333	-5.92	0.446	0.885	0.052	None	None	2.40064E-06	0	0	0	0	None	0	0	2.40064E-06	2.625E-06	0	0	None	I	None
31748	41	R/C	rs142525903	0.1879	gnomAD-2.1.1	43	None	0.6683	0.6592	None	N	-1.626	None	None	-1.875	None	None	None	None	None	None	None	1.0	None	None	0.496	0.903	None	None	None	9.89512E-04	1.23987E-03	4.24713E-04	1.69344E-02	0	None	3.27E-05	None	9.89512E-04	0	3.20628E-04	2.10615E-03	None	N	None
31748	41	R/C	rs142525903	0.1879	gnomAD-3.1.2	43	None	0.6683	0.6592	None	N	-1.626	None	None	-1.875	None	None	None	None	None	None	None	1.0	None	None	0.496	0.903	None	None	None	7.42688E-04	8.68768E-04	2.61849E-04	1.49942E-02	0	None	0	0	7.42688E-04	2.2053E-04	0	2.87356E-03	None	N	None
31748	41	R/C	rs142525903	0.1879	1000 genomes	43	None	0.6683	0.6592	None	N	-1.626	None	None	-1.875	None	None	None	None	None	None	None	1.0	None	None	0.496	0.903	None	None	None	1.19808E-03	4.5E-03	0	None	0	0	None	None	1.19808E-03	None	0	None	None	N	None
31748	41	R/C	rs142525903	0.1879	gnomAD-4.0.0	43	None	0.6683	0.6592	None	N	-1.626	None	None	-1.875	None	None	None	None	None	None	None	1.0	None	None	0.496	0.903	None	None	None	5.91154E-04	1.23964E-03	3.99933E-04	1.67917E-02	0	None	0	3.63036E-03	5.91154E-04	1.72066E-04	1.09791E-05	1.8247E-03	None	N	None
31748	41	R/H	rs547575746	0.1879	gnomAD-2.1.1	43	None	0.7752	0.7991	35.0	N	-2.626	0.26	0.053942	-2.119	0.5259	0.2059	0.515550123524	3.1	1.0	0.775	0.403469152278	1.0	0.749572873116	-4.17	0.678	0.762	0.01	None	None	1.21E-05	0	0	0	0	None	0	None	1.21E-05	0	2.67E-05	0	None	N	None
31748	41	R/H	rs547575746	0.1879	1000 genomes	43	None	0.7752	0.7991	35.0	N	-2.626	0.26	0.053942	-2.119	0.5259	0.2059	0.515550123524	3.1	1.0	0.775	0.403469152278	1.0	0.749572873116	-4.17	0.678	0.762	0.01	None	None	None	0	0	None	0	0	None	None	None	None	0	None	None	N	None
31748	41	R/H	rs547575746	0.1879	gnomAD-4.0.0	43	None	0.7752	0.7991	35.0	N	-2.626	0.26	0.053942	-2.119	0.5259	0.2059	0.515550123524	3.1	1.0	0.775	0.403469152278	1.0	0.749572873116	-4.17	0.678	0.762	0.01	None	None	1.84739E-05	0	0	0	2.52054E-05	None	0	0	1.84739E-05	1.8889E-05	3.47802E-05	3.31334E-05	None	N	None
31748	41	R/L	None	0.1879	gnomAD-4.0.0	43	None	0.9406	0.9595	35.0	N	None	0.31	0.082512	-1.068	0.5048	0.1192	0.516030974754	2.71	1.0	0.8	0.602559457607	1.0	0.751916527748	-5.9	0.68	0.779	0.011	None	None	6.84219E-07	0	0	0	0	None	0	0	6.84219E-07	8.99475E-07	0	0	None	N	None
31748	41	R/S	rs142525903	0.1879	gnomAD-2.1.1	43	None	0.9928	0.9932	33.0	N	-1.926	0.4	0.078116	-2.175	0.386	-0.272	0.491463298746	1.8	1.0	0.766	0.403328974453	1.0	0.738461136818	-4.63	0.559	0.773	0.092	None	None	4.02E-06	0	0	0	0	None	3.27E-05	None	4.02E-06	0	0	0	None	N	None
31748	41	R/S	rs142525903	0.1879	gnomAD-4.0.0	43	None	0.9928	0.9932	33.0	N	-1.926	0.4	0.078116	-2.175	0.386	-0.272	0.491463298746	1.8	1.0	0.766	0.403328974453	1.0	0.738461136818	-4.63	0.559	0.773	0.092	None	None	6.84216E-07	0	0	0	0	None	0	0	6.84216E-07	0	1.15934E-05	0	None	N	None
31749	42	E/A	None	0.1942	gnomAD-4.0.0	44	None	0.9492	0.9696	35.0	N	None	0.32	0.034329	-0.95	0.4085	-0.1478	0.476869963243	2.33	0.999992	0.502	0.435699915968	0.999	0.709261596203	-5.03	0.563	0.643	0.008	None	None	1.20032E-06	0	0	0	2.75482E-04	None	0	0	1.20032E-06	0	0	0	None	N	None
31749	42	E/D	None	0.1942	gnomAD-4.0.0	44	None	0.8144	0.855	31.0	N	None	0.33	0.039873	-1.339	0.2342	-0.5844	0.442122350618	0.915	0.844455	0.33	0.388653054685	0.999	0.708458185196	-1.39	0.141	0.458	0.356	None	None	6.84213E-07	0	0	0	0	None	0	0	6.84213E-07	0	1.15931E-05	0	None	N	None
31749	42	E/K	rs139542862	0.1942	gnomAD-2.1.1	44	None	0.972	0.9802	None	N	-0.806	None	None	-0.793	None	None	None	None	None	None	None	1.0	None	None	0.419	0.573	None	None	None	8.57E-05	2.89304E-04	2.83E-05	0	0	None	3.27E-05	None	8.57E-05	0	1.17277E-04	0	None	N	None
31749	42	E/K	rs139542862	0.1942	gnomAD-3.1.2	44	None	0.972	0.9802	None	N	-0.806	None	None	-0.793	None	None	None	None	None	None	None	1.0	None	None	0.419	0.573	None	None	None	1.24882E-04	2.65508E-04	0	0	0	None	0	0	1.24882E-04	1.17599E-04	0	0	None	N	None
31749	42	E/K	rs139542862	0.1942	1000 genomes	44	None	0.972	0.9802	None	N	-0.806	None	None	-0.793	None	None	None	None	None	None	None	1.0	None	None	0.419	0.573	None	None	None	3.99361E-04	1.5E-03	0	None	0	0	None	None	3.99361E-04	None	0	None	None	N	None
31749	42	E/K	rs139542862	0.1942	gnomAD-4.0.0	44	None	0.972	0.9802	None	N	-0.806	None	None	-0.793	None	None	None	None	None	None	None	1.0	None	None	0.419	0.573	None	None	None	6.07269E-05	1.99957E-04	0	0	0	None	3.12471E-05	0	6.07269E-05	6.61135E-05	2.19573E-05	1.60072E-05	None	N	None
31751	44	S/C	rs372132740	0.6117	gnomAD-2.1.1	54	None	0.5644	0.5206	None	N	-0.307	None	None	-0.421	None	None	None	None	None	None	None	1.0	None	None	0.574	0.67	None	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.89E-06	0	None	N	None
31751	44	S/C	rs372132740	0.6117	gnomAD-3.1.2	54	None	0.5644	0.5206	None	N	-0.307	None	None	-0.421	None	None	None	None	None	None	None	1.0	None	None	0.574	0.67	None	None	None	1.31E-05	0	0	0	0	None	0	0	1.31E-05	2.94E-05	0	0	None	N	None
31751	44	S/C	rs372132740	0.6117	gnomAD-4.0.0	54	None	0.5644	0.5206	None	N	-0.307	None	None	-0.421	None	None	None	None	None	None	None	1.0	None	None	0.574	0.67	None	None	None	3.04475E-06	0	0	0	0	None	0	0	3.04475E-06	3.61474E-06	0	0	None	N	None
31751	44	S/G	rs372132740	0.6117	gnomAD-2.1.1	54	None	0.3106	0.2925	32.0	N	-0.561	0.57	0.022976	-0.231	0.2541	-0.575	0.443632335628	0.67	0.99997	0.405	0.247322355667	0.999	0.640796303749	-2.37	0.29	0.418	0.061	None	None	4.02E-06	0	0	0	5.58E-05	None	0	None	4.02E-06	0	0	0	None	N	None
31751	44	S/R	rs753420295	0.6117	gnomAD-2.1.1	54	None	0.9744	0.9605	33.0	N	-0.143	0.42	0.044515	-0.156	0.2993	-0.4593	0.489826376215	1.24	0.999169	0.541	0.327686398923	1.0	0.727062344551	-3.9	0.591	0.604	0.149	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.89E-06	0	None	N	None
31751	44	S/R	rs753420295	0.6117	gnomAD-4.0.0	54	None	0.9744	0.9605	33.0	N	-0.143	0.42	0.044515	-0.156	0.2993	-0.4593	0.489826376215	1.24	0.999169	0.541	0.327686398923	1.0	0.727062344551	-3.9	0.591	0.604	0.149	None	None	8.8948E-06	0	0	0	0	None	0	0	8.8948E-06	1.07936E-05	0	1.65678E-05	None	N	None
31751	44	S/T	rs1223455292	0.6117	gnomAD-2.1.1	54	None	0.2847	0.2262	29.6	N	-0.209	0.41	0.047277	-0.31	0.3731	-0.3139	0.444156248343	1.125	0.999989	0.464	0.269558022972	0.999	0.675976037979	-2.43	0.306	0.403	0.061	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.89E-06	0	None	N	None
31754	47	N/T	None	0.8534	gnomAD-4.0.0	64	None	0.1965	0.1985	34.0	N	None	0.43	0.034367	0.002	0.1324	-0.7378	0.332056083419	-0.18	1.0	0.499	0.243972157842	0.904	0.412829428911	-4.43	0.409	0.435	0.193	None	None	1.59121E-06	0	0	0	0	None	0	0	1.59121E-06	2.85814E-06	0	0	None	I	None
31755	48	W/C	rs755654150	0.2292	gnomAD-2.1.1	65	None	0.9981	0.9971	35.0	D	-1.199	0.44	0.309834	-1.203	0.5524	0.4173	0.580146131267	4.005	1.0	0.688	0.65561748683	1.0	0.756372332573	-10.97	0.622	0.699	None	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.89E-06	0	None	I	None
31755	48	W/C	rs755654150	0.2292	gnomAD-4.0.0	65	None	0.9981	0.9971	35.0	D	-1.199	0.44	0.309834	-1.203	0.5524	0.4173	0.580146131267	4.005	1.0	0.688	0.65561748683	1.0	0.756372332573	-10.97	0.622	0.699	None	None	None	1.59124E-06	0	0	0	0	None	0	0	1.59124E-06	2.85822E-06	0	0	None	I	None
31757	50	I/T	rs72648259	0.5750	gnomAD-2.1.1	67	None	0.1476	0.1335	None	N	-0.661	None	None	-1.197	None	None	None	None	None	None	None	0.998	None	None	0.421	0.651	None	None	None	3.89211E-04	1.23987E-04	3.11297E-04	3.86997E-04	0	None	3.92131E-04	None	3.89211E-04	0	5.62755E-04	9.82043E-04	None	I	None
31757	50	I/T	rs72648259	0.5750	gnomAD-3.1.2	67	None	0.1476	0.1335	None	N	-0.661	None	None	-1.197	None	None	None	None	None	None	None	0.998	None	None	0.421	0.651	None	None	None	4.86311E-04	2.17171E-04	5.23903E-04	0	0	None	0	0	4.86311E-04	7.49625E-04	4.13736E-04	1.91388E-03	None	I	None
31757	50	I/T	rs72648259	0.5750	1000 genomes	67	None	0.1476	0.1335	None	N	-0.661	None	None	-1.197	None	None	None	None	None	None	None	0.998	None	None	0.421	0.651	None	None	None	3.99361E-04	0	1.4E-03	None	0	1E-03	None	None	3.99361E-04	None	0	None	None	I	None
31757	50	I/T	rs72648259	0.5750	gnomAD-4.0.0	67	None	0.1476	0.1335	None	N	-0.661	None	None	-1.197	None	None	None	None	None	None	None	0.998	None	None	0.421	0.651	None	None	None	5.37846E-04	1.5994E-04	4.16639E-04	4.05433E-04	0	None	0	4.94886E-04	5.37846E-04	6.18747E-04	5.05006E-04	6.40225E-04	None	I	None
31757	50	I/V	None	0.5750	gnomAD-4.0.0	67	None	0.0802	0.0762	27.9	N	None	0.51	0.017627	-0.832	0.1185	-0.7658	0.21331176577	-0.255	0.99991	0.436	0.597732455086	0.889	0.505946338177	-0.57	0.135	0.361	0.283	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	I	None
31758	51	V/D	None	0.2119	gnomAD-4.0.0	68	None	0.894	0.9024	34.0	D	None	0.36	0.05198	-1.533	0.4984	0.323	0.570767969123	3.51	1.0	0.684	0.864996732094	0.999	0.569831907749	-4.93	0.496	0.805	0.001	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	I	None
31759	52	E/A	rs767475236	0.2087	gnomAD-2.1.1	69	None	0.1371	0.1446	34.0	N	-0.527	0.41	0.046147	-0.585	0.1087	-0.7842	0.278250640249	-0.315	0.999986	0.52	0.329540904979	0.822	0.591227412224	-4.23	0.407	0.585	0.222	None	None	4.02E-06	0	0	0	5.58E-05	None	0	None	4.02E-06	0	0	0	None	I	None
31759	52	E/A	rs767475236	0.2087	gnomAD-4.0.0	69	None	0.1371	0.1446	34.0	N	-0.527	0.41	0.046147	-0.585	0.1087	-0.7842	0.278250640249	-0.315	0.999986	0.52	0.329540904979	0.822	0.591227412224	-4.23	0.407	0.585	0.222	None	None	1.59121E-06	0	0	0	2.77331E-05	None	0	0	1.59121E-06	0	0	0	None	I	None
31761	54	E/K	rs727505342	0.7371	gnomAD-2.1.1	75	None	0.1272	0.1171	32.0	N	-0.117	0.47	0.063134	-0.186	0.2584	-0.5824	0.489131336793	0.58	1.0	0.632	0.332646915603	1.0	0.641759991646	-2.87	0.411	0.574	0.014	None	None	1.21E-05	0	0	0	0	None	3.27E-05	None	1.21E-05	0	1.78E-05	0	None	I	None
31761	54	E/K	rs727505342	0.7371	gnomAD-3.1.2	75	None	0.1272	0.1171	32.0	N	-0.117	0.47	0.063134	-0.186	0.2584	-0.5824	0.489131336793	0.58	1.0	0.632	0.332646915603	1.0	0.641759991646	-2.87	0.411	0.574	0.014	None	None	1.97E-05	4.83E-05	0	0	0	None	0	0	1.97E-05	1.47E-05	0	0	None	I	None
31761	54	E/K	rs727505342	0.7371	gnomAD-4.0.0	75	None	0.1272	0.1171	32.0	N	-0.117	0.47	0.063134	-0.186	0.2584	-0.5824	0.489131336793	0.58	1.0	0.632	0.332646915603	1.0	0.641759991646	-2.87	0.411	0.574	0.014	None	None	9.29459E-06	2.66539E-05	1.6665E-05	0	0	None	0	1.64962E-04	9.29459E-06	7.62842E-06	2.19578E-05	0	None	I	None
31763	56	P/L	None	0.6351	gnomAD-4.0.0	83	None	0.0836	0.0887	28.1	N	None	0.35	0.014109	-0.303	0.1025	-0.9896	0.0853964992584	0.905	0.990678	0.489	0.396494342077	None	0.448989510536	-2.91	0.084	0.181	0.317	None	None	2.40064E-06	0	0	0	0	None	0	0	2.40064E-06	2.625E-06	0	0	None	N	None
31763	56	P/S	None	0.6351	gnomAD-4.0.0	83	None	0.0826	0.0814	32.0	N	None	0.51	0.039526	-0.638	0.0978	-0.9186	0.0926084460139	-0.175	0.775348	0.48	0.144782658237	0.012	0.384919255972	-2.92	0.184	0.271	0.49	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31764	57	T/N	rs1357116939	0.4393	gnomAD-4.0.0	88	None	0.1058	0.1049	34.0	N	None	0.19	0.032777	-0.634	0.3464	-0.4055	0.435477278085	0.9	0.999936	0.593	0.370789594751	0.997	0.612722873688	-3.27	0.361	0.497	0.121	None	None	1.20032E-06	0	0	0	2.75482E-04	None	0	0	1.20032E-06	0	0	0	None	N	None
31764	57	T/S	rs1175551497	0.4393	gnomAD-2.1.1	88	None	0.0846	0.0828	29.4	N	-0.764	0.26	0.054713	-0.97	0.166	-0.784	0.148518372193	0.095	0.999321	0.556	0.158396225186	0.775	0.553517818451	-2.42	0.18	0.273	0.219	None	None	4.02E-06	0	0	0	5.57E-05	None	0	None	4.02E-06	0	0	0	None	N	None
31764	57	T/S	rs1175551497	0.4393	gnomAD-4.0.0	88	None	0.0846	0.0828	29.4	N	-0.764	0.26	0.054713	-0.97	0.166	-0.784	0.148518372193	0.095	0.999321	0.556	0.158396225186	0.775	0.553517818451	-2.42	0.18	0.273	0.219	None	None	1.36838E-06	0	0	0	5.03931E-05	None	0	0	1.36838E-06	0	0	0	None	N	None
31766	59	S/F	rs191484894	0.3193	gnomAD-2.1.1	90	None	0.3409	0.3462	None	N	-0.632	None	None	-0.708	None	None	None	None	None	None	None	1.0	None	None	0.466	0.863	None	None	None	3.38793E-03	2.0656E-04	7.63877E-04	1.06465E-03	1.02554E-04	None	2.16979E-02	None	3.38793E-03	4E-05	1.70344E-03	2.94695E-03	None	N	None
31766	59	S/F	rs191484894	0.3193	gnomAD-3.1.2	90	None	0.3409	0.3462	None	N	-0.632	None	None	-0.708	None	None	None	None	None	None	None	1.0	None	None	0.466	0.863	None	None	None	1.77438E-03	2.41266E-04	1.83414E-03	8.64055E-04	0	None	0	0	1.77438E-03	1.66093E-03	2.3198E-02	1.91388E-03	None	N	None
31766	59	S/F	rs191484894	0.3193	1000 genomes	90	None	0.3409	0.3462	None	N	-0.632	None	None	-0.708	None	None	None	None	None	None	None	1.0	None	None	0.466	0.863	None	None	None	5.99042E-03	0	1.4E-03	None	0	2E-03	None	None	5.99042E-03	None	2.76E-02	None	None	N	None
31766	59	S/F	rs191484894	0.3193	gnomAD-4.0.0	90	None	0.3409	0.3462	None	N	-0.632	None	None	-0.708	None	None	None	None	None	None	None	1.0	None	None	0.466	0.863	None	None	None	2.17057E-03	3.19838E-04	9.83301E-04	8.44538E-04	1.56048E-04	None	6.24785E-05	4.12405E-03	2.17057E-03	1.05695E-03	2.11787E-02	2.92903E-03	None	N	None
31767	60	Y/C	rs1431446089	0.2524	gnomAD-2.1.1	91	None	0.0456	0.0545	29.1	N	-1.294	0.21	0.028868	-1.257	0.0967	-1.0012	0.105087784206	-0.19	0.879862	0.765	0.345859378078	None	0.288083076477	-2.25	0.233	0.396	0.267	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.89E-06	0	None	I	None
31767	60	Y/C	rs1431446089	0.2524	gnomAD-4.0.0	91	None	0.0456	0.0545	29.1	N	-1.294	0.21	0.028868	-1.257	0.0967	-1.0012	0.105087784206	-0.19	0.879862	0.765	0.345859378078	None	0.288083076477	-2.25	0.233	0.396	0.267	None	None	4.77354E-06	0	0	0	0	None	0	0	4.77354E-06	8.57456E-06	0	0	None	I	None
31768	61	V/F	None	0.4115	gnomAD-4.0.0	92	None	0.3297	0.3609	31.0	N	None	0.34	0.049762	-0.751	0.3166	-0.2603	0.490862917705	2.06	0.871656	0.567	0.745290931308	0.995	0.568578720093	-3.78	0.321	0.687	0.034	None	None	1.36839E-06	0	0	0	0	None	0	0	1.36839E-06	1.79892E-06	0	0	None	N	None
31768	61	V/L	rs1696890603	0.4115	gnomAD-4.0.0	92	None	0.3038	0.3373	25.7	N	None	0.41	0.070535	-0.371	0.1669	-0.6728	0.193643975851	1.255	0.607744	0.543	0.330331372229	0.78	0.587210297585	-2.23	0.19	0.522	0.168	None	None	1.36839E-06	0	0	0	0	None	0	0	1.36839E-06	1.79892E-06	0	0	None	N	None
31769	62	V/F	None	0.1151	gnomAD-4.0.0	93	None	0.5945	0.6224	26.0	N	None	0.2	0.040893	-0.944	0.4813	0.1176	0.509736370805	2.835	0.951108	0.696	0.811294113689	0.998	0.572769999504	-3.57	0.438	0.814	0.003	None	None	6.84196E-07	0	0	0	0	None	0	0	6.84196E-07	8.9946E-07	0	0	None	N	None
31769	62	V/I	rs374445709	0.1151	gnomAD-2.1.1	93	None	0.0903	0.0905	None	N	-0.089	None	None	-0.105	None	None	None	None	None	None	None	0.982	None	None	0.212	0.609	None	None	None	4.64E-05	4.13E-05	2.83E-05	0	2.05065E-04	None	9.8E-05	None	4.64E-05	0	3.13E-05	0	None	N	None
31769	62	V/I	rs374445709	0.1151	gnomAD-3.1.2	93	None	0.0903	0.0905	None	N	-0.089	None	None	-0.105	None	None	None	None	None	None	None	0.982	None	None	0.212	0.609	None	None	None	5.26E-05	9.65E-05	6.55E-05	0	1.93125E-04	None	0	0	5.26E-05	2.94E-05	0	0	None	N	None
31769	62	V/I	rs374445709	0.1151	gnomAD-4.0.0	93	None	0.0903	0.0905	None	N	-0.089	None	None	-0.105	None	None	None	None	None	None	None	0.982	None	None	0.212	0.609	None	None	None	1.73513E-05	6.67468E-05	1.66717E-05	0	8.91544E-05	None	0	0	1.73513E-05	1.27141E-05	2.19578E-05	1.60113E-05	None	N	None
31770	63	T/N	rs1250046145	0.4336	gnomAD-2.1.1	94	None	0.1156	0.1291	27.5	D	-0.944	0.31	0.024867	-0.465	0.352	-0.1731	0.435477278085	1.455	0.92462	0.6	0.40032279838	0.997	0.641125798225	-3.23	0.326	0.605	0.013	None	None	4.02E-06	0	2.9E-05	0	0	None	0	None	4.02E-06	0	0	0	None	N	None
31770	63	T/N	rs1250046145	0.4336	gnomAD-4.0.0	94	None	0.1156	0.1291	27.5	D	-0.944	0.31	0.024867	-0.465	0.352	-0.1731	0.435477278085	1.455	0.92462	0.6	0.40032279838	0.997	0.641125798225	-3.23	0.326	0.605	0.013	None	None	3.18231E-06	0	2.28655E-05	0	0	None	0	0	3.18231E-06	0	0	3.02407E-05	None	N	None
31771	64	R/K	rs397517760	0.8530	gnomAD-2.1.1	96	None	0.1118	0.1278	24.5	N	0.052	0.51	0.055513	-0.228	0.076	-0.969	0.0857408686986	0.29	0.623894	0.599	0.124217242631	0.001	0.541529119015	-1.35	0.084	0.212	0.635	None	None	8.04E-06	1.29132E-04	0	0	0	None	0	None	8.04E-06	0	0	0	None	I	None
31771	64	R/K	rs397517760	0.8530	gnomAD-3.1.2	96	None	0.1118	0.1278	24.5	N	0.052	0.51	0.055513	-0.228	0.076	-0.969	0.0857408686986	0.29	0.623894	0.599	0.124217242631	0.001	0.541529119015	-1.35	0.084	0.212	0.635	None	None	1.97E-05	7.24E-05	0	0	0	None	0	0	1.97E-05	0	0	0	None	I	None
31771	64	R/K	rs397517760	0.8530	gnomAD-4.0.0	96	None	0.1118	0.1278	24.5	N	0.052	0.51	0.055513	-0.228	0.076	-0.969	0.0857408686986	0.29	0.623894	0.599	0.124217242631	0.001	0.541529119015	-1.35	0.084	0.212	0.635	None	None	1.9714E-05	7.23729E-05	0	0	0	None	0	0	1.9714E-05	0	0	0	None	I	None
31774	67	K/E	rs762265902	0.4561	gnomAD-2.1.1	99	None	0.1923	0.1776	None	N	0.029	None	None	-0.084	None	None	None	None	None	None	None	0.999	None	None	0.402	0.675	None	None	None	5.36E-05	4.13E-05	0	0	0	None	0	None	5.36E-05	0	1.09443E-04	0	None	N	None
31774	67	K/E	rs762265902	0.4561	gnomAD-3.1.2	99	None	0.1923	0.1776	None	N	0.029	None	None	-0.084	None	None	None	None	None	None	None	0.999	None	None	0.402	0.675	None	None	None	7.23E-05	2.41E-05	0	0	1.9253E-04	None	0	0	7.23E-05	1.32295E-04	0	0	None	N	None
31774	67	K/E	rs762265902	0.4561	gnomAD-4.0.0	99	None	0.1923	0.1776	None	N	0.029	None	None	-0.084	None	None	None	None	None	None	None	0.999	None	None	0.402	0.675	None	None	None	1.07814E-04	3.99765E-05	0	3.37838E-05	2.22846E-05	None	0	0	1.07814E-04	1.40703E-04	0	4.80169E-05	None	N	None
31776	69	N/S	rs1696881072	0.2976	gnomAD-4.0.0	102	None	0.2069	0.203	35.0	N	None	0.53	0.026675	-1.077	0.2729	-0.538	0.418019226632	0.895	0.999984	0.521	0.163833314356	0.999	0.577157557011	-3.57	0.397	0.517	0.07	None	None	1.36838E-06	0	0	0	0	None	0	0	1.36838E-06	1.79893E-06	0	0	None	N	None
31777	70	E/A	rs955172279	0.3022	gnomAD-3.1.2	103	None	0.5821	0.6161	35.0	N	None	0.32	0.063676	-0.963	0.4394	-0.0316	0.476869963243	2.39	1.0	0.627	0.476754456241	0.999	0.659404635429	-5.0	0.58	0.704	0.009	None	None	1.97E-05	0	0	2.88018E-04	0	None	0	0	1.97E-05	2.94E-05	0	0	None	N	None
31777	70	E/A	rs955172279	0.3022	gnomAD-4.0.0	103	None	0.5821	0.6161	35.0	N	None	0.32	0.063676	-0.963	0.4394	-0.0316	0.476869963243	2.39	1.0	0.627	0.476754456241	0.999	0.659404635429	-5.0	0.58	0.704	0.009	None	None	7.68565E-06	0	0	4.08965E-05	0	None	0	0	7.68565E-06	9.57153E-06	1.33998E-05	0	None	N	None
31777	70	E/D	None	0.3022	gnomAD-4.0.0	103	None	0.7207	0.743	24.9	N	None	0.34	0.032649	-1.103	0.3222	-0.4718	0.442122350618	2.01	0.998204	0.582	0.212008924253	0.999	0.660281121731	-2.6	0.437	0.467	0.127	None	None	1.20033E-06	0	0	0	0	None	0	0	1.20033E-06	1.3125E-06	0	0	None	N	None
31777	70	E/K	rs1203504106	0.3022	gnomAD-2.1.1	103	None	0.6443	0.6402	35.0	N	-0.786	0.4	0.055069	-0.662	0.3961	-0.2344	0.489131336793	2.055	1.0	0.625	0.436132833422	0.999	0.727969884872	-2.8	0.373	0.595	0.01	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	0	1.65618E-04	None	N	None
31777	70	E/K	rs1203504106	0.3022	gnomAD-3.1.2	103	None	0.6443	0.6402	35.0	N	-0.786	0.4	0.055069	-0.662	0.3961	-0.2344	0.489131336793	2.055	1.0	0.625	0.436132833422	0.999	0.727969884872	-2.8	0.373	0.595	0.01	None	None	6.57E-06	0	6.55E-05	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31777	70	E/K	rs1203504106	0.3022	gnomAD-4.0.0	103	None	0.6443	0.6402	35.0	N	-0.786	0.4	0.055069	-0.662	0.3961	-0.2344	0.489131336793	2.055	1.0	0.625	0.436132833422	0.999	0.727969884872	-2.8	0.373	0.595	0.01	None	None	1.85901E-06	0	1.66689E-05	0	0	None	0	0	1.85901E-06	8.47606E-07	0	1.60113E-05	None	N	None
31778	71	Y/H	rs540043466	0.0889	gnomAD-4.0.0	104	None	0.9943	0.9946	35.0	D	None	-2.5	0.65179	-2.266	0.9198	1.0975	0.52537510995	4.06	1.0	0.859	0.78946127699	1.0	0.776722669601	-4.5	0.872	0.833	None	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31778	71	Y/N	rs540043466	0.0889	gnomAD-3.1.2	104	None	0.9725	0.97	35.0	D	None	-2.49	0.687111	-3.04	0.9198	1.0975	0.590220216331	4.41	1.0	0.858	0.923049238605	1.0	0.771500945091	-8.1	0.907	0.884	None	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31778	71	Y/N	rs540043466	0.0889	gnomAD-4.0.0	104	None	0.9725	0.97	35.0	D	None	-2.49	0.687111	-3.04	0.9198	1.0975	0.590220216331	4.41	1.0	0.858	0.923049238605	1.0	0.771500945091	-8.1	0.907	0.884	None	None	None	6.57324E-06	2.41336E-05	0	0	0	None	0	0	6.57324E-06	0	0	0	None	N	None
31779	72	I/T	rs1460359915	0.1705	gnomAD-2.1.1	105	None	0.1934	0.2061	27.8	N	-2.535	0.6	0.035689	-2.499	0.115	-0.9204	0.106872434951	0.95	0.717802	0.419	0.626236102369	0.001	0.348646640778	-1.08	0.118	0.54	0.349	None	None	1.07E-05	0	0	0	5.12E-05	None	0	None	1.07E-05	0	1.56E-05	0	None	N	None
31779	72	I/T	rs1460359915	0.1705	gnomAD-3.1.2	105	None	0.1934	0.2061	27.8	N	-2.535	0.6	0.035689	-2.499	0.115	-0.9204	0.106872434951	0.95	0.717802	0.419	0.626236102369	0.001	0.348646640778	-1.08	0.118	0.54	0.349	None	None	2.63E-05	2.41E-05	0	0	0	None	0	0	2.63E-05	4.41E-05	0	0	None	N	None
31779	72	I/T	rs1460359915	0.1705	gnomAD-4.0.0	105	None	0.1934	0.2061	27.8	N	-2.535	0.6	0.035689	-2.499	0.115	-0.9204	0.106872434951	0.95	0.717802	0.419	0.626236102369	0.001	0.348646640778	-1.08	0.118	0.54	0.349	None	None	1.4872E-05	1.33461E-05	0	0	0	None	0	0	1.4872E-05	1.6952E-05	0	4.80338E-05	None	N	None
31779	72	I/V	rs886039071	0.1705	gnomAD-3.1.2	105	None	0.068	0.0673	26.2	N	None	0.51	0.011351	-1.585	0.1231	-0.9295	0.0710446202875	0.4	0.854849	0.438	0.363751660372	None	0.276381254196	-0.08	0.071	0.211	0.462	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	None
31779	72	I/V	rs886039071	0.1705	gnomAD-4.0.0	105	None	0.068	0.0673	26.2	N	None	0.51	0.011351	-1.585	0.1231	-0.9295	0.0710446202875	0.4	0.854849	0.438	0.363751660372	None	0.276381254196	-0.08	0.071	0.211	0.462	None	None	6.57091E-06	0	0	0	0	None	0	0	6.57091E-06	1.47003E-05	0	0	None	N	None
31780	73	F/C	rs1696875038	0.1175	gnomAD-3.1.2	106	None	0.9493	0.9327	35.0	D	None	0.06	0.584292	-1.19	0.669	0.7504	0.553271594919	4.02	1.0	0.706	0.877205771031	1.0	0.69451636076	-7.2	0.717	0.845	0.001	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	None
31780	73	F/C	rs1696875038	0.1175	gnomAD-4.0.0	106	None	0.9493	0.9327	35.0	D	None	0.06	0.584292	-1.19	0.669	0.7504	0.553271594919	4.02	1.0	0.706	0.877205771031	1.0	0.69451636076	-7.2	0.717	0.845	0.001	None	None	6.57073E-06	0	0	0	0	None	0	0	6.57073E-06	1.46998E-05	0	0	None	N	None
31781	74	R/L	rs748984928	0.1108	gnomAD-2.1.1	107	None	0.9188	0.9301	35.0	D	-1.236	0.15	0.313893	-1.036	0.5468	0.2927	0.516030974754	3.03	1.0	0.708	0.765735979443	1.0	0.635109961033	-6.3	0.727	0.737	0.004	None	None	8.04E-06	0	5.8E-05	0	0	None	0	None	8.04E-06	0	0	0	None	I	None
31781	74	R/L	rs748984928	0.1108	gnomAD-4.0.0	107	None	0.9188	0.9301	35.0	D	-1.236	0.15	0.313893	-1.036	0.5468	0.2927	0.516030974754	3.03	1.0	0.708	0.765735979443	1.0	0.635109961033	-6.3	0.727	0.737	0.004	None	None	1.3684E-06	0	4.47227E-05	0	0	None	0	0	1.3684E-06	0	0	0	None	I	None
31781	74	R/P	rs748984928	0.1108	gnomAD-3.1.2	107	None	0.9992	0.9995	None	D	None	None	None	-1.322	None	None	None	None	None	None	None	1.0	None	None	0.694	0.819	None	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	I	None
31781	74	R/P	rs748984928	0.1108	gnomAD-4.0.0	107	None	0.9992	0.9995	None	D	None	None	None	-1.322	None	None	None	None	None	None	None	1.0	None	None	0.694	0.819	None	None	None	6.57134E-06	2.41313E-05	0	0	0	None	0	0	6.57134E-06	0	0	0	None	I	None
31781	74	R/Q	None	0.1108	gnomAD-2.1.1	107	None	0.4266	0.4907	35.0	N	-1.259	0.24	0.082874	-1.194	0.4943	0.0764	0.496624975885	3.07	0.999999	0.719	0.435915822735	1.0	0.555395901203	-3.6	0.562	0.787	0.005	None	None	1.61E-05	6.46E-05	5.8E-05	0	5.57E-05	None	0	None	1.61E-05	0	0	0	None	I	None
31781	74	R/Q	None	0.1108	gnomAD-3.1.2	107	None	0.4266	0.4907	35.0	N	-1.259	0.24	0.082874	-1.194	0.4943	0.0764	0.496624975885	3.07	0.999999	0.719	0.435915822735	1.0	0.555395901203	-3.6	0.562	0.787	0.005	None	None	3.29E-05	7.24E-05	0	0	0	None	0	0	3.29E-05	1.47E-05	2.06954E-04	0	None	I	None
31781	74	R/Q	None	0.1108	gnomAD-4.0.0	107	None	0.4266	0.4907	35.0	N	-1.259	0.24	0.082874	-1.194	0.4943	0.0764	0.496624975885	3.07	0.999999	0.719	0.435915822735	1.0	0.555395901203	-3.6	0.562	0.787	0.005	None	None	1.36329E-05	8.00983E-05	3.33411E-05	0	2.22826E-05	None	0	0	1.36329E-05	9.32361E-06	1.09784E-05	1.60108E-05	None	I	None
31782	75	V/L	rs377076423	0.0954	gnomAD-2.1.1	108	None	0.5354	0.513	24.1	D	-1.282	-0.64	0.064274	-1.05	0.4332	-0.1794	0.0908555217513	2.69	0.999964	0.811	0.647671066071	0.117	0.660209536552	-2.7	0.545	0.303	0.009	None	None	8.04E-06	0	0	0	1.11396E-04	None	0	None	8.04E-06	0	0	0	None	N	None
31782	75	V/L	rs377076423	0.0954	gnomAD-4.0.0	108	None	0.5354	0.513	24.1	D	-1.282	-0.64	0.064274	-1.05	0.4332	-0.1794	0.0908555217513	2.69	0.999964	0.811	0.647671066071	0.117	0.660209536552	-2.7	0.545	0.303	0.009	None	None	2.05259E-06	0	0	0	5.03905E-05	None	0	0	2.05259E-06	8.99475E-07	0	0	None	N	None
31782	75	V/M	rs377076423	0.0954	gnomAD-2.1.1	108	None	0.676	0.6249	None	D	-1.749	None	None	-1.223	None	None	None	None	None	None	None	0.993	None	None	0.669	0.723	None	None	None	1.07E-05	1.23967E-04	0	0	0	None	0	None	1.07E-05	0	0	0	None	N	None
31782	75	V/M	rs377076423	0.0954	gnomAD-3.1.2	108	None	0.676	0.6249	None	D	-1.749	None	None	-1.223	None	None	None	None	None	None	None	0.993	None	None	0.669	0.723	None	None	None	1.97E-05	7.24E-05	0	0	0	None	0	0	1.97E-05	0	0	0	None	N	None
31782	75	V/M	rs377076423	0.0954	gnomAD-4.0.0	108	None	0.676	0.6249	None	D	-1.749	None	None	-1.223	None	None	None	None	None	None	None	0.993	None	None	0.669	0.723	None	None	None	3.09833E-06	6.67361E-05	0	0	0	None	0	0	3.09833E-06	0	0	0	None	N	None
31783	76	R/T	rs1696869417	0.2232	gnomAD-3.1.2	109	None	0.3845	0.3969	25.0	N	None	0.4	0.049413	-1.305	0.1601	-0.83	0.317368450248	1.32	0.999987	0.649	0.311387274539	0.638	0.553548455238	-4.83	0.348	0.667	0.163	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31783	76	R/T	rs1696869417	0.2232	gnomAD-4.0.0	109	None	0.3845	0.3969	25.0	N	None	0.4	0.049413	-1.305	0.1601	-0.83	0.317368450248	1.32	0.999987	0.649	0.311387274539	0.638	0.553548455238	-4.83	0.348	0.667	0.163	None	None	2.02984E-06	1.74709E-05	0	0	0	None	0	0	2.02984E-06	1.2049E-06	0	0	None	N	None
31784	77	A/T	None	0.1027	gnomAD-4.0.0	110	None	0.8176	0.8058	34.0	D	None	-1.02	0.168175	-1.913	0.7437	0.7353	0.377117936334	3.47	0.999946	0.818	0.676012115908	0.946	0.605536878109	-3.2	0.789	0.702	0.005	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31784	77	A/V	rs1553520967	0.1027	http://www.ncbi.nlm.nih.gov/pubmed/30666435;	110	HMERF;	0.874	0.8651	35.0	D	None	-0.99	0.1368	-0.853	0.6984	0.6785	0.382416266666	3.815	0.997895	0.815	0.663723012633	0.946	0.630804181099	-3.4	0.69	0.68	0.005	het	Genetic analysis of genes in 12 HMERF families; co-segregates with condition (n = 6, 6 affected (8 total))	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31785	78	V/I	rs755742174	0.1027	gnomAD-2.1.1	111	None	0.1195	0.11	24.1	N	-0.744	0.09	0.044566	-0.732	0.2295	-0.5866	0.10609617995	1.265	0.999991	0.467	0.53906709209	0.767	0.484132349491	-0.83	0.187	0.322	0.113	None	None	4.02E-06	0	0	0	0	None	3.27E-05	None	4.02E-06	0	0	0	None	N	None
31785	78	V/I	rs755742174	0.1027	gnomAD-4.0.0	111	None	0.1195	0.11	24.1	N	-0.744	0.09	0.044566	-0.732	0.2295	-0.5866	0.10609617995	1.265	0.999991	0.467	0.53906709209	0.767	0.484132349491	-0.83	0.187	0.322	0.113	None	None	8.21039E-06	0	0	0	0	None	0	0	8.21039E-06	8.99473E-06	1.15931E-05	1.65662E-05	None	N	None
31786	79	N/K	rs869320743	0.1115	http://www.ncbi.nlm.nih.gov/pubmed/23486992; http://www.ncbi.nlm.nih.gov/pubmed/30666435;	112	HMERF;	0.9985	0.9984	31.0	D	-0.663	0.15	0.525558	-0.285	0.5354	0.2801	0.496214373149	4.38	0.99998	0.832	0.32471235697	1.0	0.742648363113	-5.4	0.842	0.737	None	het	Genetic analysis of genes in 127 undiagnosed patients, likely MFM; co-segregates with condition (n = 2, 2 affected (total 7))	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31786	79	N/K	rs869320743	0.1115	gnomAD-4.0.0	112	None	0.9985	0.9984	31.0	D	-0.663	0.15	0.525558	-0.285	0.5354	0.2801	0.496214373149	4.38	0.99998	0.832	0.32471235697	1.0	0.742648363113	-5.4	0.842	0.737	None	None	None	1.20033E-06	0	0	0	0	None	0	0	1.20033E-06	1.3125E-06	0	0	None	N	None
31786	79	N/S	rs1696865626	0.1115	gnomAD-4.0.0	112	None	0.7233	0.687	33.0	N	None	0.26	0.039837	-1.211	0.5023	0.2207	0.418019226632	3.025	0.999999	0.746	0.317958651998	0.999	0.637088537216	-4.5	0.623	0.58	None	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31787	80	K/N	rs1225133278	0.4919	gnomAD-2.1.1	113	None	0.7108	0.6861	28.8	N	0.173	0.42	0.043593	0.078	0.3029	-0.5369	0.500188843923	2.125	0.999708	0.483	0.232513804876	1.0	0.735992968082	-3.67	0.323	0.671	0.006	None	None	4.02E-06	0	2.9E-05	0	0	None	0	None	4.02E-06	0	0	0	None	I	None
31787	80	K/N	rs1225133278	0.4919	gnomAD-4.0.0	113	None	0.7108	0.6861	28.8	N	0.173	0.42	0.043593	0.078	0.3029	-0.5369	0.500188843923	2.125	0.999708	0.483	0.232513804876	1.0	0.735992968082	-3.67	0.323	0.671	0.006	None	None	2.0526E-06	0	2.23604E-05	0	0	None	0	0	2.0526E-06	1.79895E-06	0	0	None	I	None
31787	80	K/T	None	0.4919	gnomAD-4.0.0	113	None	0.3401	0.3318	35.0	N	None	0.45	0.067981	-0.218	0.3639	-0.2572	0.504634987189	2.015	1.0	0.48	0.364926071151	1.0	0.722498059273	-4.43	0.553	0.621	0.006	None	None	1.3684E-06	0	0	0	0	None	0	0	1.3684E-06	1.79895E-06	0	0	None	I	None
31788	81	Y/C	rs397517761	0.6410	gnomAD-4.0.0	114	None	0.6137	0.6373	35.0	N	None	0.42	0.049131	0.06	0.3324	-0.3681	0.505690747866	1.33	0.999998	0.54	0.425028116352	1.0	0.790256500244	-7.2	0.42	0.756	0.001	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	I	None
31788	81	Y/H	rs1696861248	0.6410	gnomAD-3.1.2	114	None	0.6351	0.5957	35.0	N	None	0.47	0.028808	0.193	0.3295	-0.3744	0.509770243166	1.09	0.999997	0.468	0.331365685468	0.999	0.790243148804	-3.8	0.457	0.625	None	None	None	1.31E-05	2.41E-05	0	0	0	None	0	0	1.31E-05	1.47E-05	0	0	None	I	None
31788	81	Y/H	rs1696861248	0.6410	gnomAD-4.0.0	114	None	0.6351	0.5957	35.0	N	None	0.47	0.028808	0.193	0.3295	-0.3744	0.509770243166	1.09	0.999997	0.468	0.331365685468	0.999	0.790243148804	-3.8	0.457	0.625	None	None	None	1.31428E-05	2.41231E-05	0	0	0	None	0	0	1.31428E-05	1.47003E-05	0	0	None	I	None
31789	82	G/D	None	0.2564	gnomAD-4.0.0	115	None	0.9678	0.968	33.0	D	None	-0.32	0.592459	-0.875	0.7113	0.7539	0.527275360279	4.415	1.0	0.89	0.635084727198	1.0	0.839864015579	-6.0	0.851	0.893	None	None	None	4.77377E-06	0	0	0	0	None	0	0	4.77377E-06	5.71687E-06	0	3.02425E-05	None	N	None
31789	82	G/R	rs1450258389	0.2564	gnomAD-2.1.1	115	None	0.9364	0.9344	34.0	D	-0.375	-0.35	0.607348	-0.623	0.7113	0.7539	0.506463245118	4.065	1.0	0.897	0.814767087539	1.0	0.83599114418	-6.93	0.835	0.896	None	None	None	4.02E-06	0	0	0	5.57E-05	None	0	None	4.02E-06	0	0	0	None	N	None
31790	83	P/S	rs1235693684	0.5370	gnomAD-2.1.1	117	None	0.1408	0.1185	27.9	N	-0.845	0.64	0.155213	-0.985	0.1902	-0.8043	0.313104685664	1.03	0.999996	0.324	0.27132560031	0.781	0.501752257347	-3.68	0.224	0.697	0.229	None	None	3.18E-05	1.14811E-04	0	0	0	None	0	None	3.18E-05	0	0	0	None	N	None
31790	83	P/S	rs1235693684	0.5370	gnomAD-3.1.2	117	None	0.1408	0.1185	27.9	N	-0.845	0.64	0.155213	-0.985	0.1902	-0.8043	0.313104685664	1.03	0.999996	0.324	0.27132560031	0.781	0.501752257347	-3.68	0.224	0.697	0.229	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31790	83	P/S	rs1235693684	0.5370	gnomAD-4.0.0	117	None	0.1408	0.1185	27.9	N	-0.845	0.64	0.155213	-0.985	0.1902	-0.8043	0.313104685664	1.03	0.999996	0.324	0.27132560031	0.781	0.501752257347	-3.68	0.224	0.697	0.229	None	None	2.56222E-06	1.69165E-05	0	0	0	None	0	0	2.56222E-06	2.39311E-06	0	0	None	N	None
31791	84	G/D	rs869320744	0.1427	http://www.ncbi.nlm.nih.gov/pubmed/23514108; http://www.ncbi.nlm.nih.gov/pubmed/25253871;	118	MFM; HMERF;	0.984	0.9869	33.0	D	-1.821	-0.04	0.77622	-1.545	0.6711	0.687	0.527275360279	3.775	1.0	0.762	0.495038369364	1.0	0.733057260513	-5.37	0.944	0.875	0.003	het	WES prioritisation of single US family + 45 unrelated probands; Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31791	84	G/R	rs1696856005	0.1427	http://www.ncbi.nlm.nih.gov/pubmed/25253871;	118	MFM; HMERF;	0.9924	0.9928	31.0	D	-1.008	-0.05	0.796429	-0.934	0.6711	0.687	0.506463245118	4.125	1.0	0.764	0.703283205912	1.0	0.730574846268	-6.23	0.954	0.916	0.001	het	Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31791	84	G/V	None	0.1427	http://www.ncbi.nlm.nih.gov/pubmed/25253871;	118	MFM; HMERF;	0.9787	0.9832	33.0	D	-0.713	-0.06	0.814048	-0.698	0.6711	0.687	0.518063289252	4.125	1.0	0.71	0.684650895497	1.0	0.655536830425	-7.07	0.916	0.903	0.002	het	Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31792	85	V/A	None	0.4378	gnomAD-4.0.0	119	None	0.1381	0.1399	35.0	N	None	0.63	0.030857	-1.242	0.1801	-0.7676	0.379395075477	0.58	0.999999	0.362	0.516659694907	0.998	0.617439746857	-2.58	0.246	0.545	0.229	None	None	6.84225E-07	0	0	0	0	None	0	0	6.84225E-07	8.99496E-07	0	0	None	N	None
31792	85	V/G	rs767359045	0.4378	gnomAD-2.1.1	119	None	0.1794	0.1854	35.0	N	-1.386	0.57	0.061854	-1.459	0.3203	-0.4058	0.511671324212	1.605	1.0	0.425	0.735492212333	1.0	0.514628052711	-4.92	0.505	0.799	0.07	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.9E-06	0	None	N	None
31792	85	V/G	rs767359045	0.4378	gnomAD-4.0.0	119	None	0.1794	0.1854	35.0	N	-1.386	0.57	0.061854	-1.459	0.3203	-0.4058	0.511671324212	1.605	1.0	0.425	0.735492212333	1.0	0.514628052711	-4.92	0.505	0.799	0.07	None	None	1.36845E-06	0	0	0	0	None	0	0	1.36845E-06	1.79899E-06	0	0	None	N	None
31792	85	V/M	rs994348588	0.4378	gnomAD-2.1.1	119	None	0.1133	0.1096	29.3	N	-0.49	0.56	0.057179	-0.524	0.3478	-0.3924	0.436120074318	1.495	0.999996	0.363	0.476598743245	0.999	0.627392292023	-2.17	0.176	0.737	0.028	None	None	8.05E-06	0	2.9E-05	0	0	None	0	None	8.05E-06	0	8.9E-06	0	None	N	None
31792	85	V/M	rs994348588	0.4378	gnomAD-3.1.2	119	None	0.1133	0.1096	29.3	N	-0.49	0.56	0.057179	-0.524	0.3478	-0.3924	0.436120074318	1.495	0.999996	0.363	0.476598743245	0.999	0.627392292023	-2.17	0.176	0.737	0.028	None	None	1.31E-05	4.82E-05	0	0	0	None	0	0	1.31E-05	0	0	0	None	N	None
31792	85	V/M	rs994348588	0.4378	gnomAD-4.0.0	119	None	0.1133	0.1096	29.3	N	-0.49	0.56	0.057179	-0.524	0.3478	-0.3924	0.436120074318	1.495	0.999996	0.363	0.476598743245	0.999	0.627392292023	-2.17	0.176	0.737	0.028	None	None	5.57713E-06	5.33917E-05	1.66672E-05	0	0	None	0	0	5.57713E-06	3.39044E-06	0	0	None	N	None
31793	86	P/A	None	0.3347	gnomAD-4.0.0	120	None	0.0615	0.0667	29.6	N	None	0.5	0.051585	-1.404	0.3896	-0.1789	0.358767660476	1.76	0.998786	0.361	0.326074293725	0.996	0.647182404995	-6.23	0.404	0.563	0.138	None	None	1.36846E-06	0	0	0	0	None	0	0	1.36846E-06	1.799E-06	0	0	None	N	None
31793	86	P/L	rs1696849077	0.3347	gnomAD-4.0.0	120	None	0.2731	0.3041	35.0	D	None	0.52	0.076889	-0.808	0.4817	0.1975	0.390075350529	3.4	0.999999	0.512	0.617224619168	0.998	0.70672917366	-7.43	0.476	0.733	0.162	None	None	1.44039E-05	0	0	0	0	None	0	0	1.44039E-05	1.575E-05	0	0	None	N	None
31793	86	P/T	rs1466581888	0.3347	gnomAD-2.1.1	120	None	0.1696	0.2073	32.0	N	-1.591	0.45	0.048471	-1.289	0.4693	0.0912	0.460054079252	3.4	0.999217	0.353	0.411799315854	0.999	0.679494559765	-6.23	0.386	0.703	0.049	None	None	4.02E-06	0	0	0	0	None	3.27E-05	None	4.02E-06	0	0	0	None	N	None
31793	86	P/T	rs1466581888	0.3347	gnomAD-4.0.0	120	None	0.1696	0.2073	32.0	N	-1.591	0.45	0.048471	-1.289	0.4693	0.0912	0.460054079252	3.4	0.999217	0.353	0.411799315854	0.999	0.679494559765	-6.23	0.386	0.703	0.049	None	None	3.42116E-06	0	0	0	0	None	0	0	3.42116E-06	0	5.79764E-05	0	None	N	None
31794	87	V/A	rs2154145428	0.1918	gnomAD-4.0.0	121	None	0.0808	0.0825	24.8	N	None	0.66	0.009166	-1.527	0.0629	-1.0388	0.100938685441	-0.045	0.563481	0.316	0.132336055621	None	0.274833500385	-2.88	0.129	0.252	0.315	None	None	3.18273E-06	0	0	0	5.546E-05	None	0	0	3.18273E-06	0	0	0	None	N	None
31794	87	V/L	rs1346238621	0.1918	gnomAD-2.1.1	121	None	0.0875	0.0862	22.7	N	-0.538	0.64	0.008844	-0.686	0.0321	-1.0691	0.0819424430668	-2.43	0.647279	0.361	0.115124310173	None	0.265345513821	-0.64	0.085	0.182	0.575	None	None	3.18E-05	0	0	0	0	None	0	None	3.18E-05	0	6.48E-05	0	None	N	None
31795	88	E/Q	None	0.2778	gnomAD-4.0.0	122	None	0.1906	0.2043	27.3	N	None	0.47	0.073865	-0.747	0.3346	-0.4389	0.459616259529	2.285	0.999994	0.214	0.240491677333	0.999	0.568341493607	-2.1	0.164	0.798	0.217	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31795	88	E/V	rs1441773765	0.2778	gnomAD-2.1.1	122	None	0.178	0.2044	35.0	N	0.449	0.4	0.044487	0.029	0.3542	-0.2938	0.498535268662	2.285	0.999996	0.434	0.590258251349	0.999	0.555458724499	-5.7	0.508	0.769	0.008	None	None	4.02E-06	0	2.9E-05	0	0	None	0	None	4.02E-06	0	0	0	None	N	None
31795	88	E/V	rs1441773765	0.2778	gnomAD-4.0.0	122	None	0.178	0.2044	35.0	N	0.449	0.4	0.044487	0.029	0.3542	-0.2938	0.498535268662	2.285	0.999996	0.434	0.590258251349	0.999	0.555458724499	-5.7	0.508	0.769	0.008	None	None	1.59138E-06	0	2.28645E-05	0	0	None	0	0	1.59138E-06	0	0	0	None	N	None
31797	90	E/K	rs1381214987	0.7241	gnomAD-4.0.0	125	None	0.1037	0.0935	22.5	N	None	0.2	0.038732	0.353	0.2668	-0.7305	0.0972544661453	2.295	0.991159	0.418	0.192905019026	0.1	0.409070819616	-2.26	0.137	0.546	0.185	None	None	6.84261E-07	0	0	0	0	None	0	0	6.84261E-07	8.99533E-07	0	0	None	N	None
31797	90	E/Q	rs1381214987	0.7241	gnomAD-2.1.1	125	None	0.103	0.1043	22.1	N	0.339	0.18	0.010968	0.05	0.2588	-0.7469	0.0828350699555	2.5	0.998091	0.273	0.124217242631	0.002	0.337676733732	-1.91	0.105	0.361	0.11	None	None	4.03E-06	0	0	0	0	None	0	None	4.03E-06	0	8.91E-06	0	None	N	None
31797	90	E/Q	rs1381214987	0.7241	gnomAD-4.0.0	125	None	0.103	0.1043	22.1	N	0.339	0.18	0.010968	0.05	0.2588	-0.7469	0.0828350699555	2.5	0.998091	0.273	0.124217242631	0.002	0.337676733732	-1.91	0.105	0.361	0.11	None	None	1.36852E-06	0	0	0	0	None	0	0	1.36852E-06	1.79907E-06	0	0	None	N	None
31797	90	E/V	rs1183343848	0.7241	gnomAD-2.1.1	125	None	0.1285	0.1315	25.2	N	0.393	0.2	0.057818	0.132	0.2541	-0.7309	0.112508237102	2.32	0.985031	0.433	0.482283251092	0.437	0.332622230053	-5.46	0.157	0.586	0.074	None	None	4.03E-06	0	2.9E-05	0	0	None	0	None	4.03E-06	0	0	0	None	N	None
31797	90	E/V	rs1183343848	0.7241	gnomAD-4.0.0	125	None	0.1285	0.1315	25.2	N	0.393	0.2	0.057818	0.132	0.2541	-0.7309	0.112508237102	2.32	0.985031	0.433	0.482283251092	0.437	0.332622230053	-5.46	0.157	0.586	0.074	None	None	4.7745E-06	0	2.28676E-05	0	0	None	0	0	4.7745E-06	2.85881E-06	0	3.0248E-05	None	N	None
31798	91	P/A	None	0.4329	gnomAD-4.0.0	126	None	0.0622	0.066	23.5	N	None	0.12	0.014404	-0.758	0.1465	-0.9032	0.0817590803949	1.04	0.997893	0.336	0.128392430309	0.002	0.460526943207	-7.2	0.159	0.308	0.014	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31799	92	I/T	rs1696841409	0.1809	gnomAD-4.0.0	127	None	0.1395	0.1134	28.1	N	None	0.09	0.043374	-1.963	0.2334	-0.6993	0.120721004158	1.715	0.999777	0.423	0.613098244845	0.181	0.501574277878	-3.83	0.282	0.586	0.007	None	None	1.20032E-06	6.33473E-05	0	0	0	None	0	0	1.20032E-06	0	0	0	None	N	None
31799	92	I/V	rs370916420	0.1809	gnomAD-2.1.1	127	None	0.0496	0.0489	None	N	-1.286	None	None	-1.129	None	None	None	None	None	None	None	None	None	None	0.06	0.144	None	None	None	6.44E-05	0	0	0	0	None	3.27E-05	None	6.44E-05	0	1.33585E-04	0	None	N	None
31799	92	I/V	rs370916420	0.1809	gnomAD-3.1.2	127	None	0.0496	0.0489	None	N	-1.286	None	None	-1.129	None	None	None	None	None	None	None	None	None	None	0.06	0.144	None	None	None	4.6E-05	0	6.54E-05	0	0	None	0	3.16456E-03	4.6E-05	7.35E-05	0	0	None	N	None
31799	92	I/V	rs370916420	0.1809	gnomAD-4.0.0	127	None	0.0496	0.0489	None	N	-1.286	None	None	-1.129	None	None	None	None	None	None	None	None	None	None	0.06	0.144	None	None	None	6.01123E-05	0	1.66617E-05	0	0	None	0	1.65071E-04	6.01123E-05	7.46002E-05	1.09813E-05	9.60553E-05	None	N	None
31800	93	V/A	None	0.3176	gnomAD-4.0.0	129	None	0.2086	0.2014	32.0	N	None	0.07	0.030708	-1.115	0.201	-0.7464	0.104108345011	1.905	0.939321	0.295	0.465975295344	0.025	0.531350672245	-3.33	0.23	0.445	0.237	None	None	3.60097E-06	0	0	0	0	None	0	0	3.60097E-06	3.93751E-06	0	0	None	N	None
31800	93	V/I	rs766203953	0.3176	gnomAD-2.1.1	129	None	0.0603	0.0614	22.6	N	-0.398	0.14	0.02447	-0.536	0.1006	-0.9901	0.0684251949703	-0.14	0.765492	0.295	0.206339911435	None	0.39274841547	-0.39	0.099	0.058	0.478	None	None	4.03E-06	0	0	0	0	None	3.27E-05	None	4.03E-06	0	0	0	None	N	None
31800	93	V/I	rs766203953	0.3176	gnomAD-4.0.0	129	None	0.0603	0.0614	22.6	N	-0.398	0.14	0.02447	-0.536	0.1006	-0.9901	0.0684251949703	-0.14	0.765492	0.295	0.206339911435	None	0.39274841547	-0.39	0.099	0.058	0.478	None	None	3.184E-06	0	0	0	0	None	0	0	3.184E-06	0	2.86664E-05	0	None	N	None
31803	96	N/T	rs2154145420	0.2586	gnomAD-3.1.2	132	None	0.4565	0.439	34.0	N	None	0.36	0.045682	0.054	0.2578	-0.5106	0.462432038134	2.245	1.0	0.231	0.349429436713	0.997	0.685251712799	-4.6	0.336	0.711	0.019	None	None	6.57E-06	0	0	0	0	None	0	3.16456E-03	6.57E-06	0	0	0	None	N	None

Whole Population MAF	African (AFR)	Latin American (AMR)
Amish (AMS)	Ashkenazi Jewish (ASJ)	East Asian (EAS)
European/1KGP (EUR)	Finnish (FIN)	Middle Eastern (MDE)
Non-Finnish European (NFE)	South Asian (SAS)	Other (OTH)

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