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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.
Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
3058 | 1 | I/L | 1 | None | 0.5230 | None | gnomAD-4.0.0 | 1.36822E-06 | |
3058 | 1 | I/M | 1 | rs1442547576 | 0.5230 | None | gnomAD-2.1.1 | 3.99E-06 | |
3058 | 1 | I/M | 1 | rs1442547576 | 0.5230 | None | gnomAD-3.1.2 | 6.57E-06 | |
3058 | 1 | I/M | 1 | rs1442547576 | 0.5230 | None | gnomAD-4.0.0 | 6.56953E-06 | |
3058 | 1 | I/R | 1 | None | 0.5230 | None | gnomAD-4.0.0 | 1.59075E-06 | |
3058 | 1 | I/T | 1 | rs373657576 | 0.5230 | None | gnomAD-2.1.1 | 1.2E-05 | |
3058 | 1 | I/T | 1 | rs373657576 | 0.5230 | None | gnomAD-3.1.2 | 6.57E-06 | |
3058 | 1 | I/T | 1 | rs373657576 | 0.5230 | None | 1000 genomes | 1.99681E-04 | |
3058 | 1 | I/T | 1 | rs373657576 | 0.5230 | None | gnomAD-4.0.0 | 2.561E-06 | |
3058 | 1 | I/V | 1 | rs759240786 | 0.5230 | None | gnomAD-2.1.1 | 1.2E-05 | |
3058 | 1 | I/V | 1 | rs759240786 | 0.5230 | None | gnomAD-4.0.0 | 3.42056E-06 | |
3059 | 2 | E/Q | 2 | None | 0.4952 | None | gnomAD-4.0.0 | 1.59075E-06 | |
3059 | 2 | E/V | 2 | rs727504501 | 0.4952 | None | gnomAD-2.1.1 | 5.32E-05 | |
3059 | 2 | E/V | 2 | rs727504501 | 0.4952 | None | gnomAD-3.1.2 | 1.97E-05 | |
3059 | 2 | E/V | 2 | rs727504501 | 0.4952 | None | gnomAD-4.0.0 | 2.78823E-05 | |
3060 | 3 | F/L | 3 | None | 0.2764 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3061 | 4 | R/G | 4 | rs561375563 | 0.2651 | None | gnomAD-2.1.1 | 3.99E-06 | |
3061 | 4 | R/G | 4 | rs561375563 | 0.2651 | None | gnomAD-3.1.2 | 6.57E-06 | |
3061 | 4 | R/G | 4 | rs561375563 | 0.2651 | None | 1000 genomes | 1.99681E-04 | |
3061 | 4 | R/G | 4 | rs561375563 | 0.2651 | None | gnomAD-4.0.0 | 6.56426E-06 | |
3061 | 4 | R/S | 4 | rs773298764 | 0.2651 | None | gnomAD-4.0.0 | 1.59071E-06 | |
3062 | 5 | K/R | 5 | rs769821924 | 0.2246 | None | gnomAD-2.1.1 | 1.99E-05 | |
3062 | 5 | K/R | 5 | rs769821924 | 0.2246 | None | gnomAD-3.1.2 | 6.57E-06 | |
3062 | 5 | K/R | 5 | rs769821924 | 0.2246 | None | gnomAD-4.0.0 | 2.85012E-05 | |
3063 | 6 | H/D | 7 | rs1325663861 | 0.5987 | None | gnomAD-3.1.2 | 6.58E-06 | |
3063 | 6 | H/D | 7 | rs1325663861 | 0.5987 | None | gnomAD-4.0.0 | 6.57652E-06 | |
3063 | 6 | H/R | 7 | rs762023362 | 0.5987 | None | gnomAD-2.1.1 | 3.99E-06 | |
3063 | 6 | H/R | 7 | rs762023362 | 0.5987 | None | gnomAD-4.0.0 | 2.73642E-06 | |
3064 | 7 | I/T | 8 | rs769120910 | 0.1471 | None | gnomAD-2.1.1 | 3.99E-06 | |
3064 | 7 | I/T | 8 | rs769120910 | 0.1471 | None | gnomAD-4.0.0 | 3.18136E-06 | |
3064 | 7 | I/V | 8 | None | 0.1471 | None | gnomAD-4.0.0 | 1.59066E-06 | |
3065 | 8 | K/Q | 9 | None | 0.8387 | None | gnomAD-4.0.0 | 3.18139E-06 | |
3065 | 8 | K/T | 9 | rs747328944 | 0.8387 | None | gnomAD-2.1.1 | 1.99E-05 | |
3065 | 8 | K/T | 9 | rs747328944 | 0.8387 | None | gnomAD-4.0.0 | 7.95342E-06 | |
3067 | 10 | I/L | 13 | None | 0.2113 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3067 | 10 | I/M | 13 | None | 0.2113 | None | gnomAD-4.0.0 | 1.59066E-06 | |
3067 | 10 | I/T | 13 | rs1435097269 | 0.2113 | None | gnomAD-2.1.1 | 1.2E-05 | |
3067 | 10 | I/T | 13 | rs1435097269 | 0.2113 | None | gnomAD-4.0.0 | 6.36266E-06 | |
3067 | 10 | I/V | 13 | rs2154341582 | 0.2113 | None | gnomAD-3.1.2 | 6.57E-06 | |
3067 | 10 | I/V | 13 | rs2154341582 | 0.2113 | None | gnomAD-4.0.0 | 6.56418E-06 | |
3068 | 11 | K/N | 14 | rs772683836 | 0.5382 | None | gnomAD-2.1.1 | 3.99E-06 | |
3068 | 11 | K/N | 14 | rs772683836 | 0.5382 | None | gnomAD-4.0.0 | 6.84102E-07 | |
3069 | 12 | V/A | 16 | None | 0.1637 | None | gnomAD-4.0.0 | 1.20033E-06 | |
3069 | 12 | V/I | 16 | rs2090837308 | 0.1637 | None | gnomAD-4.0.0 | 1.3682E-06 | |
3069 | 12 | V/L | 16 | None | 0.1637 | None | gnomAD-4.0.0 | 4.10461E-06 | |
3070 | 13 | L/P | 18 | rs530883294 | 0.4466 | None | gnomAD-2.1.1 | 3.99E-06 | |
3070 | 13 | L/P | 18 | rs530883294 | 0.4466 | None | gnomAD-3.1.2 | 6.57E-06 | |
3070 | 13 | L/P | 18 | rs530883294 | 0.4466 | None | 1000 genomes | 1.99681E-04 | |
3070 | 13 | L/P | 18 | rs530883294 | 0.4466 | None | gnomAD-4.0.0 | 3.84112E-06 | |
3071 | 14 | E/D | 23 | rs779657872 | 0.4197 | None | gnomAD-2.1.1 | 3.18E-05 | |
3071 | 14 | E/D | 23 | rs779657872 | 0.4197 | None | gnomAD-3.1.2 | 6.57E-06 | |
3071 | 14 | E/D | 23 | rs779657872 | 0.4197 | None | gnomAD-4.0.0 | 6.57125E-06 | |
3071 | 14 | E/G | 23 | rs755629588 | 0.4197 | None | gnomAD-2.1.1 | 7.97E-06 | |
3071 | 14 | E/G | 23 | rs755629588 | 0.4197 | None | gnomAD-4.0.0 | 1.23137E-05 | |
3071 | 14 | E/Q | 23 | rs777427458 | 0.4197 | None | gnomAD-2.1.1 | 1.59E-05 | |
3071 | 14 | E/Q | 23 | rs777427458 | 0.4197 | None | gnomAD-4.0.0 | 6.84095E-06 | |
3072 | 15 | K/E | 24 | rs752455147 | 0.6175 | None | gnomAD-2.1.1 | 1.2E-05 | |
3072 | 15 | K/E | 24 | rs752455147 | 0.6175 | None | gnomAD-4.0.0 | 7.95312E-06 | |
3074 | 17 | R/P | 26 | None | 0.6963 | None | gnomAD-4.0.0 | 6.84093E-07 | |
3074 | 17 | R/Q | 26 | rs565052824 | 0.6963 | None | gnomAD-2.1.1 | 3.98E-06 | |
3074 | 17 | R/Q | 26 | rs565052824 | 0.6963 | None | gnomAD-3.1.2 | 1.97E-05 | |
3074 | 17 | R/Q | 26 | rs565052824 | 0.6963 | None | 1000 genomes | 3.99361E-04 | |
3074 | 17 | R/Q | 26 | rs565052824 | 0.6963 | None | gnomAD-4.0.0 | 6.19551E-06 | |
3076 | 19 | M/I | 29 | rs144592053 | 0.3562 | None | gnomAD-2.1.1 | 1.59E-05 | |
3076 | 19 | M/I | 29 | rs144592053 | 0.3562 | None | gnomAD-3.1.2 | 6.57E-06 | |
3076 | 19 | M/I | 29 | rs144592053 | 0.3562 | None | gnomAD-4.0.0 | 5.57621E-06 | |
3076 | 19 | M/L | 29 | rs766144077 | 0.3562 | None | gnomAD-2.1.1 | 7.97E-06 | |
3076 | 19 | M/L | 29 | rs766144077 | 0.3562 | None | gnomAD-3.1.2 | 1.31E-05 | |
3076 | 19 | M/L | 29 | rs766144077 | 0.3562 | None | gnomAD-4.0.0 | 1.85871E-06 | |
3076 | 19 | M/V | 29 | rs766144077 | 0.3562 | None | gnomAD-2.1.1 | 7.08E-06 | |
3076 | 19 | M/V | 29 | rs766144077 | 0.3562 | None | gnomAD-3.1.2 | 2.63E-05 | |
3076 | 19 | M/V | 29 | rs766144077 | 0.3562 | None | gnomAD-4.0.0 | 6.81526E-06 | |
3077 | 20 | F/C | 30 | None | 0.1316 | None | gnomAD-4.0.0 | 2.40064E-06 | |
3078 | 21 | E/G | 31 | rs370704384 | 0.2965 | None | gnomAD-2.1.1 | 3.98E-06 | |
3078 | 21 | E/Q | 31 | rs1309287997 | 0.2965 | None | gnomAD-3.1.2 | 6.57E-06 | |
3078 | 21 | E/Q | 31 | rs1309287997 | 0.2965 | None | gnomAD-4.0.0 | 2.56117E-06 | |
3079 | 22 | C/R | 33 | rs141259583 | 0.1336 | None | gnomAD-2.1.1 | 7.08E-06 | |
3079 | 22 | C/R | 33 | rs141259583 | 0.1336 | None | gnomAD-3.1.2 | 1.31E-05 | |
3079 | 22 | C/R | 33 | rs141259583 | 0.1336 | None | gnomAD-4.0.0 | 3.04475E-06 | |
3079 | 22 | C/Y | 33 | rs2154341551 | 0.1336 | None | gnomAD-4.0.0 | 1.36816E-06 | |
3080 | 23 | E/D | 34 | None | 0.2184 | None | gnomAD-4.0.0 | 6.00161E-06 | |
3080 | 23 | E/G | 34 | rs1305956743 | 0.2184 | None | gnomAD-3.1.2 | 6.57E-06 | |
3080 | 23 | E/G | 34 | rs1305956743 | 0.2184 | None | gnomAD-4.0.0 | 6.57039E-06 | |
3080 | 23 | E/Q | 34 | None | 0.2184 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3081 | 24 | V/I | 35 | rs1037728221 | 0.1377 | None | gnomAD-3.1.2 | 6.57E-06 | |
3081 | 24 | V/I | 35 | rs1037728221 | 0.1377 | None | gnomAD-4.0.0 | 2.56121E-06 | |
3082 | 25 | S/C | 38 | None | 0.1067 | None | gnomAD-4.0.0 | 1.59056E-06 | |
3084 | 27 | P/L | 41 | rs1033996370 | 0.2701 | None | gnomAD-4.0.0 | 6.84079E-07 | |
3084 | 27 | P/R | 41 | rs1033996370 | 0.2701 | None | gnomAD-3.1.2 | 6.57E-06 | |
3084 | 27 | P/R | 41 | rs1033996370 | 0.2701 | None | gnomAD-4.0.0 | 2.47832E-06 | |
3084 | 27 | P/S | 41 | None | 0.2701 | None | gnomAD-4.0.0 | 1.36815E-06 | |
3085 | 28 | D/G | 43 | None | 0.5051 | None | gnomAD-4.0.0 | 1.20034E-06 | |
3086 | 29 | I/L | 44 | rs2090827474 | 0.3694 | None | gnomAD-3.1.2 | 6.57E-06 | |
3086 | 29 | I/L | 44 | rs2090827474 | 0.3694 | None | gnomAD-4.0.0 | 6.56918E-06 | |
3086 | 29 | I/V | 44 | rs2090827474 | 0.3694 | None | gnomAD-4.0.0 | 1.59055E-06 | |
3088 | 31 | V/E | 46 | None | 0.2798 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3088 | 31 | V/I | 46 | rs776977480 | 0.2798 | None | gnomAD-2.1.1 | 1.59E-05 | |
3088 | 31 | V/I | 46 | rs776977480 | 0.2798 | None | gnomAD-4.0.0 | 8.893E-06 | |
3090 | 33 | W/S | 48 | rs761150662 | 0.2007 | None | gnomAD-2.1.1 | 3.98E-06 | |
3090 | 33 | W/S | 48 | rs761150662 | 0.2007 | None | gnomAD-4.0.0 | 3.18109E-06 | |
3091 | 34 | M/I | 49 | None | 0.2836 | None | gnomAD-4.0.0 | 2.05222E-06 | |
3091 | 34 | M/R | 49 | None | 0.2836 | None | gnomAD-4.0.0 | 7.20193E-06 | |
3091 | 34 | M/V | 49 | rs1307544270 | 0.2836 | None | gnomAD-4.0.0 | 6.84074E-06 | |
3092 | 35 | K/Q | 50 | None | 0.1646 | None | gnomAD-4.0.0 | 1.59052E-06 | |
3092 | 35 | K/R | 50 | None | 0.1646 | None | gnomAD-4.0.0 | 1.32035E-05 | |
3093 | 36 | D/N | 51 | rs377376861 | 0.3853 | None | gnomAD-2.1.1 | 7.96E-06 | |
3093 | 36 | D/N | 51 | rs377376861 | 0.3853 | None | gnomAD-3.1.2 | 1.97E-05 | |
3093 | 36 | D/N | 51 | rs377376861 | 0.3853 | None | gnomAD-4.0.0 | 3.09785E-06 | |
3093 | 36 | D/Y | 51 | None | 0.3853 | None | gnomAD-4.0.0 | 6.84078E-07 | |
3094 | 37 | D/G | 52 | rs1330654958 | 0.7504 | None | gnomAD-2.1.1 | 3.98E-06 | |
3094 | 37 | D/G | 52 | rs1330654958 | 0.7504 | None | gnomAD-4.0.0 | 1.59054E-06 | |
3094 | 37 | D/N | 52 | rs1228717391 | 0.7504 | None | gnomAD-2.1.1 | 3.98E-06 | |
3094 | 37 | D/N | 52 | rs1228717391 | 0.7504 | None | gnomAD-4.0.0 | 1.59054E-06 | |
3095 | 38 | Q/R | 55 | None | 0.7647 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3096 | 39 | E/A | 56 | None | 0.8316 | None | gnomAD-4.0.0 | 1.36815E-06 | |
3096 | 39 | E/D | 56 | None | 0.8316 | None | gnomAD-4.0.0 | 1.59054E-06 | |
3096 | 39 | E/V | 56 | rs772499668 | 0.8316 | None | gnomAD-2.1.1 | 7.96E-06 | |
3096 | 39 | E/V | 56 | rs772499668 | 0.8316 | None | gnomAD-4.0.0 | 4.78853E-06 | |
3097 | 40 | L/P | 58 | rs373366126 | 0.2183 | None | gnomAD-2.1.1 | 2.83E-05 | |
3097 | 40 | L/P | 58 | rs373366126 | 0.2183 | None | gnomAD-3.1.2 | 5.91E-05 | |
3097 | 40 | L/P | 58 | rs373366126 | 0.2183 | None | gnomAD-4.0.0 | 1.19576E-04 | |
3097 | 40 | L/Q | 58 | None | 0.2183 | None | gnomAD-2.1.1 | 3.19E-05 | |
3097 | 40 | L/Q | 58 | None | 0.2183 | None | gnomAD-3.1.2 | 6.57E-06 | |
3097 | 40 | L/Q | 58 | None | 0.2183 | None | gnomAD-4.0.0 | 6.57013E-06 | |
3097 | 40 | L/R | 58 | rs373366126 | 0.2183 | None | gnomAD-2.1.1 | 7.96E-06 | |
3097 | 40 | L/R | 58 | rs373366126 | 0.2183 | None | gnomAD-3.1.2 | 6.57E-06 | |
3097 | 40 | L/R | 58 | rs373366126 | 0.2183 | None | gnomAD-4.0.0 | 2.47827E-06 | |
3098 | 41 | Q/E | 59 | None | 0.9136 | None | gnomAD-4.0.0 | 3.42037E-06 | |
3099 | 42 | I/N | 70 | rs747584198 | 0.7098 | None | gnomAD-2.1.1 | 3.98E-06 | |
3099 | 42 | I/N | 70 | rs747584198 | 0.7098 | None | gnomAD-4.0.0 | 1.59055E-06 | |
3099 | 42 | I/V | 70 | rs2090820350 | 0.7098 | None | gnomAD-3.1.2 | 6.57E-06 | |
3099 | 42 | I/V | 70 | rs2090820350 | 0.7098 | None | gnomAD-4.0.0 | 6.56927E-06 | |
3100 | 43 | T/I | 73 | rs780950679 | 0.4510 | None | gnomAD-2.1.1 | 3.98E-06 | |
3100 | 43 | T/I | 73 | rs780950679 | 0.4510 | None | gnomAD-4.0.0 | 3.1811E-06 | |
3101 | 44 | D/E | 111 | rs148676491 | 1.0725 | None | gnomAD-2.1.1 | 1.19E-05 | |
3101 | 44 | D/E | 111 | rs148676491 | 1.0725 | None | gnomAD-3.1.2 | 1.31E-05 | |
3101 | 44 | D/E | 111 | rs148676491 | 1.0725 | None | gnomAD-4.0.0 | 1.48698E-05 | |
3101 | 44 | D/N | 111 | None | 1.0725 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3102 | 45 | R/G | 115 | None | 0.3278 | None | gnomAD-4.0.0 | 1.59055E-06 | |
3102 | 45 | R/K | 115 | None | 0.3278 | None | gnomAD-4.0.0 | 1.59056E-06 | |
3103 | 46 | I/V | 121 | rs2090782630 | 0.2618 | None | gnomAD-3.1.2 | 6.57E-06 | |
3103 | 46 | I/V | 121 | rs2090782630 | 0.2618 | None | gnomAD-4.0.0 | 6.57099E-06 | |
3104 | 47 | K/E | 122 | rs2154341451 | 0.5943 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3105 | 48 | I/F | 123 | None | 0.3903 | None | gnomAD-4.0.0 | 6.84092E-07 | |
3105 | 48 | I/T | 123 | rs753742861 | 0.3903 | None | gnomAD-2.1.1 | 2.39E-05 | |
3105 | 48 | I/T | 123 | rs753742861 | 0.3903 | None | gnomAD-4.0.0 | 1.27249E-05 | |
3105 | 48 | I/V | 123 | None | 0.3903 | None | gnomAD-4.0.0 | 6.84092E-07 | |
3107 | 50 | K/E | 127 | rs764095381 | 0.3594 | None | gnomAD-2.1.1 | 3.98E-06 | |
3107 | 50 | K/E | 127 | rs764095381 | 0.3594 | None | gnomAD-3.1.2 | 6.57E-06 | |
3107 | 50 | K/E | 127 | rs764095381 | 0.3594 | None | gnomAD-4.0.0 | 5.12262E-06 | |
3108 | 51 | E/D | 130 | rs756206178 | 0.4362 | None | gnomAD-2.1.1 | 1.06E-05 | |
3108 | 51 | E/D | 130 | rs756206178 | 0.4362 | None | gnomAD-3.1.2 | 4.6E-05 | |
3108 | 51 | E/D | 130 | rs756206178 | 0.4362 | None | gnomAD-4.0.0 | 8.67421E-06 | |
3109 | 52 | K/R | 131 | rs753036867 | 0.3838 | None | gnomAD-2.1.1 | 1.77E-05 | |
3109 | 52 | K/R | 131 | rs753036867 | 0.3838 | None | gnomAD-3.1.2 | 6.57E-05 | |
3109 | 52 | K/R | 131 | rs753036867 | 0.3838 | None | gnomAD-4.0.0 | 1.11527E-05 | |
3110 | 53 | Y/D | 134 | rs2090779143 | 0.2564 | None | gnomAD-3.1.2 | 6.58E-06 | |
3110 | 53 | Y/D | 134 | rs2090779143 | 0.2564 | None | gnomAD-4.0.0 | 2.56156E-06 | |
3111 | 54 | V/I | 135 | rs2090778418 | 0.1663 | None | gnomAD-4.0.0 | 3.18123E-06 | |
3112 | 55 | H/L | 136 | rs1381688014 | 0.1867 | None | gnomAD-2.1.1 | 3.98E-06 | |
3112 | 55 | H/L | 136 | rs1381688014 | 0.1867 | None | gnomAD-4.0.0 | 1.59061E-06 | |
3112 | 55 | H/Y | 136 | None | 0.1867 | None | gnomAD-4.0.0 | 3.60097E-06 | |
3113 | 56 | R/C | 137 | rs751998418 | 0.2100 | None | gnomAD-2.1.1 | 1.77E-05 | |
3113 | 56 | R/C | 137 | rs751998418 | 0.2100 | None | gnomAD-3.1.2 | 1.97E-05 | |
3113 | 56 | R/C | 137 | rs751998418 | 0.2100 | None | gnomAD-4.0.0 | 1.98273E-05 | |
3113 | 56 | R/H | 137 | rs141258018 | 0.2100 | None | gnomAD-2.1.1 | 4.78032E-04 | |
3113 | 56 | R/H | 137 | rs141258018 | 0.2100 | None | gnomAD-3.1.2 | 3.22144E-04 | |
3113 | 56 | R/H | 137 | rs141258018 | 0.2100 | None | 1000 genomes | 1.39776E-03 | |
3113 | 56 | R/H | 137 | rs141258018 | 0.2100 | None | gnomAD-4.0.0 | 3.09165E-04 | |
3113 | 56 | R/S | 137 | rs751998418 | 0.2100 | None | gnomAD-3.1.2 | 6.57E-06 | |
3113 | 56 | R/S | 137 | rs751998418 | 0.2100 | None | gnomAD-4.0.0 | 6.57289E-06 | |
3114 | 57 | L/F | 138 | rs556868685 | 0.1056 | None | gnomAD-2.1.1 | 7.97E-06 | |
3114 | 57 | L/F | 138 | rs556868685 | 0.1056 | None | gnomAD-3.1.2 | 6.57E-06 | |
3114 | 57 | L/F | 138 | rs556868685 | 0.1056 | None | 1000 genomes | 1.99681E-04 | |
3114 | 57 | L/F | 138 | rs556868685 | 0.1056 | None | gnomAD-4.0.0 | 3.09766E-06 | |
3115 | 58 | L/R | 139 | rs773714030 | 0.2475 | None | gnomAD-2.1.1 | 3.98E-06 | |
3116 | 59 | I/M | 140 | rs760230943 | 0.1734 | None | gnomAD-2.1.1 | 5.58E-05 | |
3116 | 59 | I/M | 140 | rs760230943 | 0.1734 | None | gnomAD-4.0.0 | 2.06774E-05 | |
3117 | 60 | P/L | 141 | rs752062913 | 0.4066 | None | gnomAD-3.1.2 | 6.57E-06 | |
3117 | 60 | P/L | 141 | rs752062913 | 0.4066 | None | gnomAD-4.0.0 | 1.85874E-06 | |
3118 | 61 | S/F | 143 | rs879133990 | 0.3996 | None | gnomAD-2.1.1 | 3.18E-05 | |
3118 | 61 | S/F | 143 | rs879133990 | 0.3996 | None | gnomAD-3.1.2 | 6.57E-06 | |
3118 | 61 | S/F | 143 | rs879133990 | 0.3996 | None | gnomAD-4.0.0 | 3.04477E-06 | |
3119 | 62 | T/A | 144 | None | 0.1346 | None | gnomAD-4.0.0 | 6.84078E-07 | |
3119 | 62 | T/I | 144 | rs1444407818 | 0.1346 | None | gnomAD-2.1.1 | 7.08E-06 | |
3119 | 62 | T/I | 144 | rs1444407818 | 0.1346 | None | gnomAD-4.0.0 | 1.59054E-06 | |
3119 | 62 | T/S | 144 | rs775164752 | 0.1346 | None | gnomAD-2.1.1 | 7.97E-06 | |
3119 | 62 | T/S | 144 | rs775164752 | 0.1346 | None | gnomAD-4.0.0 | 4.78854E-06 | |
3120 | 63 | R/G | 145 | None | 0.4554 | None | gnomAD-4.0.0 | 6.84078E-07 | |
3120 | 63 | R/L | 145 | None | 0.4554 | None | gnomAD-4.0.0 | 6.84078E-07 | |
3120 | 63 | R/P | 145 | rs72647894 | 0.4554 | None | gnomAD-4.0.0 | 6.84078E-07 | |
3120 | 63 | R/Q | 145 | rs72647894 | 0.4554 | None | gnomAD-2.1.1 | 4.31987E-03 | |
3120 | 63 | R/Q | 145 | rs72647894 | 0.4554 | None | gnomAD-3.1.2 | 3.89788E-03 | |
3120 | 63 | R/Q | 145 | rs72647894 | 0.4554 | None | 1000 genomes | 1.59744E-03 | |
3120 | 63 | R/Q | 145 | rs72647894 | 0.4554 | None | gnomAD-4.0.0 | 3.7582E-03 | |
3120 | 63 | R/W | 145 | rs149492487 | 0.4554 | None | gnomAD-2.1.1 | 3.54E-05 | |
3120 | 63 | R/W | 145 | rs149492487 | 0.4554 | None | gnomAD-3.1.2 | 4.6E-05 | |
3120 | 63 | R/W | 145 | rs149492487 | 0.4554 | None | 1000 genomes | 1.99681E-04 | |
3120 | 63 | R/W | 145 | rs149492487 | 0.4554 | None | gnomAD-4.0.0 | 1.42498E-05 | |
3121 | 64 | M/I | 146 | rs200413367 | 0.7096 | None | gnomAD-2.1.1 | 7.57E-05 | |
3121 | 64 | M/I | 146 | rs200413367 | 0.7096 | None | gnomAD-3.1.2 | 6.57E-05 | |
3121 | 64 | M/I | 146 | rs200413367 | 0.7096 | None | gnomAD-4.0.0 | 4.58483E-05 | |
3121 | 64 | M/V | 146 | None | 0.7096 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3122 | 65 | S/C | 148 | None | 0.4669 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3122 | 65 | S/T | 148 | None | 0.4669 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3123 | 66 | D/E | 149 | rs397517785 | 0.2133 | None | gnomAD-2.1.1 | 7.97E-06 | |
3123 | 66 | D/E | 149 | rs397517785 | 0.2133 | None | gnomAD-3.1.2 | 6.57E-06 | |
3123 | 66 | D/E | 149 | rs397517785 | 0.2133 | None | gnomAD-4.0.0 | 1.02445E-05 | |
3123 | 66 | D/N | 149 | rs1213706471 | 0.2133 | None | gnomAD-2.1.1 | 3.98E-06 | |
3123 | 66 | D/N | 149 | rs1213706471 | 0.2133 | None | gnomAD-4.0.0 | 1.59056E-06 | |
3125 | 68 | G/A | 152 | None | 0.2687 | None | gnomAD-4.0.0 | 1.59053E-06 | |
3125 | 68 | G/E | 152 | None | 0.2687 | None | gnomAD-4.0.0 | 6.36211E-06 | |
3125 | 68 | G/R | 152 | None | 0.2687 | None | gnomAD-4.0.0 | 1.36816E-06 | |
3130 | 73 | V/A | 157 | None | 0.2765 | None | gnomAD-4.0.0 | 1.59051E-06 | |
3131 | 74 | A/G | 158 | None | 0.2463 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3131 | 74 | A/V | 158 | None | 0.2463 | None | gnomAD-4.0.0 | 1.20032E-06 | |
3132 | 75 | G/E | 159 | rs1293502713 | 0.8857 | None | gnomAD-4.0.0 | 1.59052E-06 | |
3134 | 77 | N/I | 162 | None | 0.4332 | None | gnomAD-4.0.0 | 1.36814E-06 | |
3134 | 77 | N/K | 162 | rs587780987 | 0.4332 | None | gnomAD-4.0.0 | 1.36815E-06 | |
3134 | 77 | N/S | 162 | rs777759635 | 0.4332 | None | gnomAD-2.1.1 | 7.97E-06 | |
3134 | 77 | N/S | 162 | rs777759635 | 0.4332 | None | gnomAD-3.1.2 | 6.57E-06 | |
3134 | 77 | N/S | 162 | rs777759635 | 0.4332 | None | gnomAD-4.0.0 | 4.95611E-06 | |
3135 | 78 | V/M | 163 | rs557922344 | 0.6681 | None | gnomAD-2.1.1 | 7.97E-06 | |
3135 | 78 | V/M | 163 | rs557922344 | 0.6681 | None | gnomAD-3.1.2 | 1.97E-05 | |
3135 | 78 | V/M | 163 | rs557922344 | 0.6681 | None | 1000 genomes | 3.99361E-04 | |
3135 | 78 | V/M | 163 | rs557922344 | 0.6681 | None | gnomAD-4.0.0 | 7.43435E-06 | |
3138 | 81 | A/S | 172 | rs781368593 | 0.0889 | None | gnomAD-2.1.1 | 3.98E-06 | |
3138 | 81 | A/S | 172 | rs781368593 | 0.0889 | None | gnomAD-3.1.2 | 6.57E-06 | |
3138 | 81 | A/S | 172 | rs781368593 | 0.0889 | None | gnomAD-4.0.0 | 6.57168E-06 | |
3138 | 81 | A/T | 172 | None | 0.0889 | None | gnomAD-4.0.0 | 1.59052E-06 | |
3138 | 81 | A/V | 172 | rs755278092 | 0.0889 | None | gnomAD-2.1.1 | 1.2E-05 | |
3138 | 81 | A/V | 172 | rs755278092 | 0.0889 | None | gnomAD-4.0.0 | 4.7716E-06 | |
3139 | 82 | K/N | 173 | rs1346392116 | 0.5278 | None | gnomAD-2.1.1 | 3.98E-06 | |
3139 | 82 | K/N | 173 | rs1346392116 | 0.5278 | None | gnomAD-4.0.0 | 1.36815E-06 | |
3139 | 82 | K/Q | 173 | None | 0.5278 | None | gnomAD-4.0.0 | 1.59052E-06 | |
3141 | 84 | F/V | 175 | rs1423594676 | 0.6747 | None | gnomAD-2.1.1 | 3.98E-06 | |
3141 | 84 | F/V | 175 | rs1423594676 | 0.6747 | None | gnomAD-4.0.0 | 1.59052E-06 | |
3142 | 85 | V/G | 178 | rs1165830952 | 0.3775 | None | gnomAD-2.1.1 | 3.98E-06 | |
3142 | 85 | V/G | 178 | rs1165830952 | 0.3775 | None | gnomAD-4.0.0 | 1.59051E-06 |