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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

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

Disease Associations

Disease Zygosity Comments

Population Frequencies

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)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
D L S T M P Q K T I H V P A G R P V E L V I P I A G R P P P A A S W F F A G S K L R E S E R V T V E T H T K V A K L T I R E T T I R D T G E Y T L E L K N V T G T T S E T I K V I I L D K P G P P T G P I K I D E I D A T S I T I S W E P P E L D G G A P L S G Y V V E Q R D A H R P G W L P V S E S V T R S T F K F T R L T E G N E Y V F R V A A T N R F G I G S Y L Q S E V I E C R S S
D L S T M P Q K T I H V P A G R P V E L V I P I A G R P P P A A S W F F A G S K L R E S E R V T V E T H T K V A K L T I R E T T I R D T G E Y T L E L K N V T G T T S E T I K V I I - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
32307 1 D/A 1 None 0.4944 None gnomAD-4.0.0 2.06866E-06
32307 1 D/G 1 rs942897847 0.4944 None gnomAD-2.1.1 1.82E-05
32307 1 D/G 1 rs942897847 0.4944 None gnomAD-3.1.2 3.29E-05
32307 1 D/G 1 rs942897847 0.4944 None gnomAD-4.0.0 6.24064E-06
32307 1 D/N 1 rs1474585549 0.4944 None gnomAD-2.1.1 1.24E-05
32307 1 D/N 1 rs1474585549 0.4944 None gnomAD-3.1.2 6.58E-06
32307 1 D/N 1 rs1474585549 0.4944 None gnomAD-4.0.0 1.12479E-05
32308 2 L/F 2 None 0.2622 None gnomAD-4.0.0 1.20032E-06
32308 2 L/R 2 rs749636019 0.2622 None gnomAD-2.1.1 4.11E-06
32309 3 S/P 3 None 0.4651 None gnomAD-4.0.0 1.20032E-06
32310 4 T/A 4 rs542208825 0.6704 None gnomAD-2.1.1 4.08E-06
32310 4 T/A 4 rs542208825 0.6704 None gnomAD-4.0.0 6.88136E-07
32310 4 T/P 4 rs542208825 0.6704 None gnomAD-2.1.1 2.89E-05
32310 4 T/P 4 rs542208825 0.6704 None gnomAD-3.1.2 1.64292E-04
32310 4 T/P 4 rs542208825 0.6704 None 1000 genomes 1.99681E-04
32310 4 T/P 4 rs542208825 0.6704 None gnomAD-4.0.0 4.5469E-05
32311 5 M/T 5 None 0.2074 None gnomAD-4.0.0 1.20032E-06
32311 5 M/V 5 rs727504981 0.2074 None gnomAD-2.1.1 1.63E-05
32311 5 M/V 5 rs727504981 0.2074 None gnomAD-3.1.2 1.31E-05
32311 5 M/V 5 rs727504981 0.2074 None gnomAD-4.0.0 1.55515E-05
32312 6 P/L 7 None 0.5835 None gnomAD-4.0.0 1.59811E-06
32312 6 P/S 7 rs1024823449 0.5835 None gnomAD-2.1.1 8.09E-06
32312 6 P/S 7 rs1024823449 0.5835 None gnomAD-3.1.2 1.97E-05
32312 6 P/S 7 rs1024823449 0.5835 None gnomAD-4.0.0 5.58722E-06
32313 7 Q/L 8 None 0.7762 None gnomAD-4.0.0 6.85262E-07
32313 7 Q/R 8 None 0.7762 None gnomAD-4.0.0 6.85262E-07
32314 8 K/E 9 rs1695288601 0.3579 None gnomAD-4.0.0 4.11114E-06
32315 9 T/A 11 rs1363712214 0.2411 None gnomAD-2.1.1 4.04E-06
32315 9 T/A 11 rs1363712214 0.2411 None gnomAD-4.0.0 1.5955E-06
32315 9 T/I 11 rs56027402 0.2411 None gnomAD-2.1.1 6.00651E-03
32315 9 T/I 11 rs56027402 0.2411 None gnomAD-3.1.2 1.79995E-02
32315 9 T/I 11 rs56027402 0.2411 None 1000 genomes 1.63738E-02
32315 9 T/I 11 rs56027402 0.2411 None gnomAD-4.0.0 3.40756E-03
32315 9 T/N 11 rs56027402 0.2411 None gnomAD-3.1.2 6.58E-06
32315 9 T/N 11 rs56027402 0.2411 None gnomAD-4.0.0 3.72233E-06
32315 9 T/S 11 None 0.2411 None gnomAD-4.0.0 1.5955E-06
32316 10 I/S 13 None 0.2608 None gnomAD-4.0.0 6.84562E-07
32316 10 I/T 13 rs1366924258 0.2608 None gnomAD-4.0.0 6.84562E-07
32316 10 I/V 13 None 0.2608 None gnomAD-4.0.0 1.59336E-06
32317 11 H/D 14 rs779019939 0.4696 None gnomAD-2.1.1 4.04E-06
32317 11 H/D 14 rs779019939 0.4696 None gnomAD-3.1.2 6.57E-06
32317 11 H/D 14 rs779019939 0.4696 None gnomAD-4.0.0 3.84689E-06
32317 11 H/Y 14 None 0.4696 None gnomAD-4.0.0 1.5931E-06
32319 13 P/A 18 rs1395301319 0.3166 None gnomAD-2.1.1 4.04E-06
32319 13 P/A 18 rs1395301319 0.3166 None gnomAD-4.0.0 1.59289E-06
32319 13 P/L 18 None 0.3166 None gnomAD-4.0.0 1.20033E-06
32320 14 A/P 23 None 0.2905 None gnomAD-4.0.0 1.59217E-06
32320 14 A/S 23 rs753692640 0.2905 None gnomAD-2.1.1 4.04E-06
32320 14 A/S 23 rs753692640 0.2905 None gnomAD-4.0.0 1.59217E-06
32321 15 G/D 24 rs1421966339 0.3352 None gnomAD-2.1.1 4.04E-06
32321 15 G/D 24 rs1421966339 0.3352 None gnomAD-4.0.0 1.59212E-06
32322 16 R/T 25 rs1187427678 0.6740 None gnomAD-2.1.1 4.04E-06
32322 16 R/T 25 rs1187427678 0.6740 None gnomAD-3.1.2 6.57E-06
32322 16 R/T 25 rs1187427678 0.6740 None gnomAD-4.0.0 4.33847E-06
32323 17 P/L 26 rs1695272344 0.3743 None gnomAD-3.1.2 6.57E-06
32323 17 P/L 26 rs1695272344 0.3743 None gnomAD-4.0.0 6.57341E-06
32324 18 V/A 28 rs760371027 0.1562 None gnomAD-2.1.1 4.04E-05
32324 18 V/A 28 rs760371027 0.1562 None gnomAD-3.1.2 6.57E-06
32324 18 V/A 28 rs760371027 0.1562 None gnomAD-4.0.0 1.48743E-05
32324 18 V/I 28 rs1454125243 0.1562 None gnomAD-2.1.1 4.04E-06
32324 18 V/I 28 rs1454125243 0.1562 None gnomAD-4.0.0 3.1832E-06
32325 19 E/Q 29 rs1196060333 0.5921 None gnomAD-2.1.1 4.04E-06
32325 19 E/Q 29 rs1196060333 0.5921 None gnomAD-4.0.0 2.7371E-06
32326 20 L/V 30 rs752927644 0.1622 None gnomAD-2.1.1 7.17E-06
32326 20 L/V 30 rs752927644 0.1622 None gnomAD-3.1.2 6.57E-06
32326 20 L/V 30 rs752927644 0.1622 None gnomAD-4.0.0 2.47885E-06
32327 21 V/A 31 None 0.4411 None gnomAD-4.0.0 1.36843E-06
32327 21 V/M 31 rs956461857 0.4411 None gnomAD-2.1.1 4.04E-06
32327 21 V/M 31 rs956461857 0.4411 None gnomAD-4.0.0 6.36519E-06
32329 23 P/S 34 rs759641873 0.3258 None gnomAD-2.1.1 8.08E-06
32329 23 P/S 34 rs759641873 0.3258 None gnomAD-4.0.0 1.36842E-06
32329 23 P/T 34 None 0.3258 None gnomAD-4.0.0 6.84211E-07
32330 24 I/L 35 None 0.1476 None gnomAD-4.0.0 1.20032E-06
32330 24 I/T 35 rs201023432 0.1476 None gnomAD-2.1.1 5.73E-05
32330 24 I/T 35 rs201023432 0.1476 None gnomAD-3.1.2 8.54E-05
32330 24 I/T 35 rs201023432 0.1476 None gnomAD-4.0.0 2.20611E-04
32333 27 R/C 41 rs368918455 0.9675 None gnomAD-2.1.1 7.17E-06
32333 27 R/C 41 rs368918455 0.9675 None gnomAD-3.1.2 2.63E-05
32333 27 R/C 41 rs368918455 0.9675 None gnomAD-4.0.0 6.19715E-06
32333 27 R/H 41 rs138846756 0.9675 None gnomAD-2.1.1 4.26594E-04
32333 27 R/H 41 rs138846756 0.9675 None gnomAD-3.1.2 9.40406E-04
32333 27 R/H 41 rs138846756 0.9675 None 1000 genomes 1.19808E-03
32333 27 R/H 41 rs138846756 0.9675 None gnomAD-4.0.0 2.21846E-04
32334 28 P/L 42 rs748395939 0.4657 None gnomAD-2.1.1 1.21E-05
32334 28 P/L 42 rs748395939 0.4657 None gnomAD-4.0.0 2.05259E-06
32334 28 P/R 42 rs748395939 0.4657 None gnomAD-4.0.0 4.78938E-06
32335 29 P/L 43 rs771804243 0.5836 None gnomAD-4.0.0 1.3684E-06
32335 29 P/R 43 rs771804243 0.5836 None gnomAD-2.1.1 8.07E-06
32335 29 P/R 43 rs771804243 0.5836 None gnomAD-4.0.0 4.1052E-06
32335 29 P/S 43 rs779886174 0.5836 None gnomAD-2.1.1 8.07E-06
32335 29 P/S 43 rs779886174 0.5836 None gnomAD-4.0.0 3.18243E-06
32336 30 P/L 44 rs745496890 0.2513 None gnomAD-2.1.1 1.61E-05
32336 30 P/L 44 rs745496890 0.2513 None gnomAD-4.0.0 3.42096E-06
32337 31 A/T 45 None 0.4852 None gnomAD-4.0.0 1.59121E-06
32338 32 A/G 46 None 0.3257 None gnomAD-4.0.0 2.05258E-06
32339 33 S/P 47 None 0.2379 None gnomAD-4.0.0 2.73676E-06
32341 35 F/L 49 None 0.2364 None gnomAD-4.0.0 1.20032E-06
32342 36 F/L 50 rs1559116130 0.2413 None gnomAD-2.1.1 4.03E-06
32342 36 F/L 50 rs1559116130 0.2413 None gnomAD-3.1.2 6.57E-06
32342 36 F/L 50 rs1559116130 0.2413 None gnomAD-4.0.0 3.84326E-06
32343 37 A/G 51 None 0.5495 None gnomAD-4.0.0 1.59124E-06
32343 37 A/T 51 rs539206860 0.5495 None gnomAD-3.1.2 6.58E-06
32343 37 A/T 51 rs539206860 0.5495 None gnomAD-4.0.0 2.56249E-06
32344 38 G/S 52 rs778602950 0.5356 None gnomAD-2.1.1 8.07E-06
32344 38 G/S 52 rs778602950 0.5356 None gnomAD-3.1.2 1.97E-05
32344 38 G/S 52 rs778602950 0.5356 None gnomAD-4.0.0 1.48734E-05
32346 40 K/Q 56 rs372803018 0.5425 None gnomAD-2.1.1 4.03E-06
32346 40 K/Q 56 rs372803018 0.5425 None gnomAD-3.1.2 3.94E-05
32346 40 K/Q 56 rs372803018 0.5425 None gnomAD-4.0.0 5.57732E-06
32347 41 L/V 58 None 0.2510 None gnomAD-4.0.0 1.20032E-06
32348 42 R/K 69 None 0.9144 None gnomAD-4.0.0 1.20032E-06
32350 44 S/P 73 None 0.3022 None gnomAD-4.0.0 1.20032E-06
32351 45 E/G 102 rs879109633 1.0732 None gnomAD-4.0.0 3.18245E-06
32351 45 E/K 102 rs727504879 1.0732 None gnomAD-2.1.1 1.21E-05
32351 45 E/K 102 rs727504879 1.0732 None gnomAD-3.1.2 1.31E-05
32351 45 E/K 102 rs727504879 1.0732 None gnomAD-4.0.0 8.05613E-06
32352 46 R/C 115 rs753874904 0.2461 None gnomAD-2.1.1 3.63E-05
32352 46 R/C 115 rs753874904 0.2461 None gnomAD-3.1.2 1.31E-05
32352 46 R/C 115 rs753874904 0.2461 None gnomAD-4.0.0 2.16904E-05
32352 46 R/G 115 rs753874904 0.2461 None gnomAD-2.1.1 4.03E-06
32352 46 R/G 115 rs753874904 0.2461 None gnomAD-4.0.0 1.36843E-06
32352 46 R/H 115 rs575939045 0.2461 None gnomAD-2.1.1 7.51E-05
32352 46 R/H 115 rs575939045 0.2461 None gnomAD-3.1.2 1.1177E-04
32352 46 R/H 115 rs575939045 0.2461 None 1000 genomes 3.99361E-04
32352 46 R/H 115 rs575939045 0.2461 None gnomAD-4.0.0 1.50579E-04
32352 46 R/L 115 rs575939045 0.2461 None gnomAD-3.1.2 6.57E-06
32352 46 R/L 115 rs575939045 0.2461 None gnomAD-4.0.0 6.57471E-06
32352 46 R/S 115 None 0.2461 None gnomAD-4.0.0 6.84216E-07
32353 47 V/I 121 rs1250490166 0.1681 None gnomAD-2.1.1 4.03E-06
32353 47 V/I 121 rs1250490166 0.1681 None gnomAD-4.0.0 1.36841E-06
32354 48 T/I 122 None 0.4755 None gnomAD-4.0.0 1.20032E-06
32355 49 V/G 123 None 0.3246 None gnomAD-4.0.0 1.20032E-06
32356 50 E/A 125 rs368184712 0.5081 None gnomAD-2.1.1 8.05E-06
32356 50 E/A 125 rs368184712 0.5081 None gnomAD-3.1.2 1.31E-05
32356 50 E/A 125 rs368184712 0.5081 None gnomAD-4.0.0 1.42533E-05
32357 51 T/I 127 rs375538626 0.4033 None gnomAD-2.1.1 1.61E-05
32357 51 T/I 127 rs375538626 0.4033 None gnomAD-4.0.0 7.52626E-06
32357 51 T/S 127 rs375538626 0.4033 None gnomAD-2.1.1 8.05E-06
32357 51 T/S 127 rs375538626 0.4033 None gnomAD-3.1.2 6.57E-06
32357 51 T/S 127 rs375538626 0.4033 None gnomAD-4.0.0 6.19706E-06
32359 53 T/I 131 rs759803579 0.7868 None gnomAD-2.1.1 4.03E-06
32359 53 T/I 131 rs759803579 0.7868 None gnomAD-4.0.0 2.05261E-06
32360 54 K/E 134 None 0.8032 None gnomAD-4.0.0 6.842E-07
32360 54 K/Q 134 rs751750046 0.8032 None gnomAD-2.1.1 4.03E-06
32360 54 K/Q 134 rs751750046 0.8032 None gnomAD-4.0.0 2.0526E-06
32361 55 V/E 135 rs773186045 0.2565 None gnomAD-2.1.1 7.15E-06
32361 55 V/E 135 rs773186045 0.2565 None gnomAD-3.1.2 6.58E-06
32361 55 V/E 135 rs773186045 0.2565 None gnomAD-4.0.0 4.95772E-06
32361 55 V/I 135 rs766538774 0.2565 None gnomAD-2.1.1 1.07E-05
32361 55 V/I 135 rs766538774 0.2565 None gnomAD-3.1.2 2.63E-05
32361 55 V/I 135 rs766538774 0.2565 None gnomAD-4.0.0 6.19706E-06
32361 55 V/L 135 rs766538774 0.2565 None gnomAD-2.1.1 4.02E-06
32361 55 V/L 135 rs766538774 0.2565 None gnomAD-4.0.0 6.84197E-07
32362 56 A/G 136 rs773773028 0.1167 None gnomAD-2.1.1 8.05E-06
32362 56 A/G 136 rs773773028 0.1167 None gnomAD-4.0.0 2.05261E-06
32362 56 A/V 136 rs773773028 0.1167 None gnomAD-2.1.1 4.83E-05
32362 56 A/V 136 rs773773028 0.1167 None gnomAD-4.0.0 1.09473E-05
32365 59 T/I 139 None 0.2055 None gnomAD-4.0.0 1.59123E-06
32365 59 T/S 139 None 0.2055 None gnomAD-4.0.0 3.18246E-06
32366 60 I/S 140 rs1695213145 0.1251 None gnomAD-4.0.0 1.59121E-06
32366 60 I/V 140 rs1304811622 0.1251 None gnomAD-2.1.1 4.02E-06
32367 61 R/C 141 rs202064385 0.6538 None gnomAD-2.1.1 4.10723E-04
32367 61 R/C 141 rs202064385 0.6538 None gnomAD-3.1.2 3.5509E-04
32367 61 R/C 141 rs202064385 0.6538 None gnomAD-4.0.0 3.01787E-04
32367 61 R/H 141 rs777181557 0.6538 None gnomAD-2.1.1 1.07E-05
32367 61 R/H 141 rs777181557 0.6538 None gnomAD-3.1.2 1.31E-05
32367 61 R/H 141 rs777181557 0.6538 None gnomAD-4.0.0 1.48732E-05
32368 62 E/D 143 None 0.7896 None gnomAD-4.0.0 1.20034E-06
32368 62 E/K 143 rs1695208937 0.7896 None gnomAD-3.1.2 6.57E-06
32368 62 E/K 143 rs1695208937 0.7896 None gnomAD-4.0.0 6.57402E-06
32369 63 T/I 144 rs559194338 0.1174 None gnomAD-2.1.1 4.02E-06
32369 63 T/I 144 rs559194338 0.1174 None gnomAD-3.1.2 1.31E-05
32369 63 T/I 144 rs559194338 0.1174 None 1000 genomes 3.99361E-04
32369 63 T/I 144 rs559194338 0.1174 None gnomAD-4.0.0 1.85898E-06
32369 63 T/N 144 None 0.1174 None gnomAD-4.0.0 1.36843E-06
32369 63 T/S 144 None 0.1174 None gnomAD-4.0.0 1.59122E-06
32370 64 T/N 145 rs146098114 0.4226 None gnomAD-2.1.1 2.41E-05
32370 64 T/N 145 rs146098114 0.4226 None gnomAD-3.1.2 1.97E-05
32370 64 T/N 145 rs146098114 0.4226 None gnomAD-4.0.0 2.56184E-05
32371 65 I/S 146 rs748682168 0.3851 None gnomAD-2.1.1 4.02E-06
32371 65 I/S 146 rs748682168 0.3851 None gnomAD-3.1.2 6.57E-06
32371 65 I/S 146 rs748682168 0.3851 None gnomAD-4.0.0 3.22242E-05
32371 65 I/V 146 rs397517766 0.3851 None gnomAD-2.1.1 1.07E-05
32371 65 I/V 146 rs397517766 0.3851 None gnomAD-3.1.2 3.94E-05
32371 65 I/V 146 rs397517766 0.3851 None gnomAD-4.0.0 6.63056E-05
32372 66 R/G 148 rs1298215224 0.8378 None gnomAD-2.1.1 3.19E-05
32372 66 R/G 148 rs1298215224 0.8378 None gnomAD-3.1.2 6.57E-06
32372 66 R/G 148 rs1298215224 0.8378 None gnomAD-4.0.0 5.07563E-06
32373 67 D/N 149 None 0.2035 None gnomAD-4.0.0 1.59125E-06
32377 71 Y/C 154 None 0.1140 None gnomAD-4.0.0 1.20033E-06
32377 71 Y/H 154 rs1695198854 0.1140 None gnomAD-4.0.0 1.20033E-06
32378 72 T/I 155 None 0.2181 None gnomAD-4.0.0 1.59126E-06
32378 72 T/P 155 None 0.2181 None gnomAD-4.0.0 1.59125E-06
32379 73 L/F 156 rs1361697291 0.1231 None gnomAD-2.1.1 6.37E-05
32379 73 L/F 156 rs1361697291 0.1231 None gnomAD-3.1.2 6.57E-06
32379 73 L/F 156 rs1361697291 0.1231 None gnomAD-4.0.0 6.08986E-06
32380 74 E/A 157 None 0.3598 None gnomAD-4.0.0 3.42106E-06
32381 75 L/M 158 None 0.1909 None gnomAD-4.0.0 6.84212E-07
32382 76 K/M 159 rs748057827 0.6238 None gnomAD-2.1.1 4.02E-06
32382 76 K/M 159 rs748057827 0.6238 None gnomAD-4.0.0 1.59129E-06
32382 76 K/N 159 rs781006271 0.6238 None gnomAD-2.1.1 8.04E-06
32382 76 K/N 159 rs781006271 0.6238 None gnomAD-3.1.2 6.57E-06
32382 76 K/N 159 rs781006271 0.6238 None gnomAD-4.0.0 6.81677E-06
32384 78 V/I 162 rs754763137 0.7661 None gnomAD-2.1.1 4.02E-06
32384 78 V/I 162 rs754763137 0.7661 None gnomAD-4.0.0 3.18266E-06
32386 80 G/A 164 rs750418991 0.3249 None gnomAD-2.1.1 3.62E-05
32386 80 G/A 164 rs750418991 0.3249 None gnomAD-3.1.2 1.31E-05
32386 80 G/A 164 rs750418991 0.3249 None gnomAD-4.0.0 2.16914E-05
32386 80 G/R 164 rs758534800 0.3249 None gnomAD-2.1.1 4.42E-05
32386 80 G/R 164 rs758534800 0.3249 None gnomAD-3.1.2 5.92E-05
32386 80 G/R 164 rs758534800 0.3249 None gnomAD-4.0.0 3.9044E-05
32386 80 G/V 164 None 0.3249 None gnomAD-4.0.0 6.84273E-07
32388 82 T/N 166 None 0.6191 None gnomAD-4.0.0 1.59164E-06
32391 85 T/I 171 rs1353755396 0.3306 None gnomAD-2.1.1 4.02E-06
32391 85 T/I 171 rs1353755396 0.3306 None gnomAD-3.1.2 6.58E-06
32391 85 T/I 171 rs1353755396 0.3306 None gnomAD-4.0.0 4.33914E-06
32392 86 I/S 172 None 0.1216 None gnomAD-4.0.0 2.05352E-06
32392 86 I/T 172 None 0.1216 None gnomAD-4.0.0 6.84507E-07
32393 87 K/E 173 rs374081110 0.4733 None gnomAD-2.1.1 4.02E-06
32393 87 K/E 173 rs374081110 0.4733 None gnomAD-3.1.2 6.57E-06
32393 87 K/E 173 rs374081110 0.4733 None gnomAD-4.0.0 2.47967E-06
32393 87 K/R 173 None 0.4733 None gnomAD-4.0.0 1.59291E-06
32394 88 V/F 174 None 0.1065 None gnomAD-4.0.0 6.8456E-07
32394 88 V/I 174 None 0.1065 None gnomAD-4.0.0 3.4228E-06
32395 89 I/F 175 None 0.1945 None gnomAD-4.0.0 6.855E-07
32395 89 I/T 175 None 0.1945 None gnomAD-4.0.0 2.7418E-06
32395 89 I/V 175 None 0.1945 None gnomAD-4.0.0 6.855E-07