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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 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 260 270 280 290 300 310 320
A D V P D P P R G V K V S D V S R D S V N L T W T E P A S D G G S K I T N Y I V E K C A T T A E R W L R V G Q A R E T R Y T V I N L F G K T S Y Q F R V I A E N K F G L S K P S E P S E P T I T K E D K T R A M N Y D E E V D E T R E V S M T K A S H S S T K E L Y E K Y M I A E D L G R G E F G I V H R C V E T S S K K T Y M A K F V K V K G T D Q V L V K K E I S I L N I A R H R N I L H L H E S F E S M E E L V M I F E F I S G L D I F E R I N T S A F E L N E R E I V S Y V H Q V C E A L Q F L H S H N I G H F D I R P E N I I Y Q T R R S S T I K I I E F G Q A R Q L K P G D N F R L L F T A P E Y Y A P E V H Q H D V V S T A T D M W S L G T L V Y V L L S G I N P F L A E T N Q Q I I E N I M N A E Y T F D E E A F K E I S I E A M D F V D R L L V K E R K S R M T A S E A L Q H P W L K Q K I E R V S T K V I R T L K H R R Y Y H T L I K K D L N M V V S A A R I S C G G A I R S Q K G V S V A K V K V A S I E I G P V S G Q I M H A V G E E G G H V K Y V C K I E N Y D Q S T Q V T W Y F G V R Q L E N S E K Y E I T Y E D G V A I L Y V K D I T K L D D G T Y R C K V V N D Y G E D S S Y A E L F V K G V R E V Y D Y
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - K E L Y E K Y M I A E D L G R G E F G I V H R C V E T S S K K T Y M A K F V K V K G T D Q V L V K K E I S I L N I A R H R N I L H L H E S F E S M E E L V M I F E F I S G L D I F E R I N T S A F E L N E R E I V S Y V H Q V C E A L Q F L H S H N I G H F D I R P E N I I Y Q T R R S S T I K I I E F G Q A R Q L K P G D N F R L L F T A P E Y Y A P E V H Q H D V V S T A T D M W S L G T L V Y V L L S G I N P F L A E T N Q Q I I E N I M N A E Y T F D E E A F K E I S I E A M D F V D R L L V K E R K S R M T A S E A L Q H P W L K Q K I E R V S T K V I R T L K H R R Y Y H T L I K K D L N M V V S A A R I S C G G A I R S Q K G V S V A K V K V A S I E I G - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
33814 2 E/D None rs1690878070 0.2681 None gnomAD-4.0.0 3.18212E-06
33814 2 E/K None rs760254702 0.2681 None gnomAD-2.1.1 8.04E-06
33814 2 E/K None rs760254702 0.2681 None gnomAD-4.0.0 4.77327E-06
33814 2 E/V None None 0.2681 None gnomAD-4.0.0 1.20032E-06
33816 4 Y/C None None 0.5115 None gnomAD-4.0.0 1.36836E-06
33817 5 E/K None rs771596824 0.5016 None gnomAD-2.1.1 2.41E-05
33817 5 E/K None rs771596824 0.5016 None gnomAD-3.1.2 1.31E-05
33817 5 E/K None rs771596824 0.5016 None gnomAD-4.0.0 1.05335E-05
33819 7 Y/H None None 0.1029 None gnomAD-4.0.0 1.20032E-06
33820 8 M/T None rs995436105 0.7305 None gnomAD-3.1.2 6.57E-06
33820 8 M/T None rs995436105 0.7305 None gnomAD-4.0.0 6.57142E-06
33821 9 I/L None None 0.2796 None gnomAD-4.0.0 3.60097E-06
33821 9 I/T None None 0.2796 None gnomAD-4.0.0 1.20032E-06
33822 10 A/V None rs745421965 0.1728 None gnomAD-2.1.1 4.02E-06
33822 10 A/V None rs745421965 0.1728 None gnomAD-3.1.2 6.57E-06
33822 10 A/V None rs745421965 0.1728 None gnomAD-4.0.0 2.02995E-06
33823 11 E/K None rs778556139 0.1672 None gnomAD-2.1.1 4.02E-06
33823 11 E/K None rs778556139 0.1672 None gnomAD-4.0.0 3.18241E-06
33825 13 L/F None rs1389553978 0.0991 None gnomAD-2.1.1 4.02E-06
33825 13 L/F None rs1389553978 0.0991 None gnomAD-4.0.0 1.36841E-06
33825 13 L/I None None 0.0991 None gnomAD-4.0.0 6.84205E-07
33825 13 L/P None rs1559044679 0.0991 None gnomAD-2.1.1 4.02E-06
33825 13 L/P None rs1559044679 0.0991 None gnomAD-4.0.0 1.59121E-06
33827 15 R/C None rs372067498 0.4967 None gnomAD-2.1.1 3.22E-05
33827 15 R/C None rs372067498 0.4967 None gnomAD-3.1.2 1.97E-05
33827 15 R/C None rs372067498 0.4967 None gnomAD-4.0.0 2.16907E-05
33827 15 R/H None rs376403708 0.4967 None gnomAD-2.1.1 3.68023E-04
33827 15 R/H None rs376403708 0.4967 None gnomAD-3.1.2 2.82582E-04
33827 15 R/H None rs376403708 0.4967 None 1000 genomes 1.99681E-04
33827 15 R/H None rs376403708 0.4967 None gnomAD-4.0.0 1.5739E-04
33827 15 R/P None None 0.4967 None gnomAD-4.0.0 6.84212E-07
33827 15 R/S None rs372067498 0.4967 None gnomAD-3.1.2 6.58E-06
33827 15 R/S None rs372067498 0.4967 None gnomAD-4.0.0 6.57566E-06
33828 16 G/D None rs1690860089 0.2596 None gnomAD-3.1.2 6.57E-06
33828 16 G/D None rs1690860089 0.2596 None gnomAD-4.0.0 1.23938E-06
33828 16 G/V None None 0.2596 None gnomAD-4.0.0 1.36842E-06
33829 17 E/K None rs755890947 0.4306 None gnomAD-2.1.1 4.02E-06
33829 17 E/K None rs755890947 0.4306 None gnomAD-4.0.0 1.59124E-06
33830 18 F/I None rs1575289681 0.3110 None gnomAD-4.0.0 1.5912E-06
33830 18 F/Y None None 0.3110 None gnomAD-4.0.0 1.5912E-06
33831 19 G/R None None 0.1651 None gnomAD-4.0.0 1.20032E-05
33832 20 I/T None rs1476820246 0.1539 None gnomAD-2.1.1 7.14E-06
33832 20 I/T None rs1476820246 0.1539 None gnomAD-3.1.2 1.31E-05
33832 20 I/T None rs1476820246 0.1539 None gnomAD-4.0.0 1.1774E-05
33834 22 H/R None None 0.2155 None gnomAD-4.0.0 2.05261E-06
33834 22 H/Y None rs534907370 0.2155 None gnomAD-2.1.1 8.05E-06
33834 22 H/Y None rs534907370 0.2155 None gnomAD-3.1.2 6.58E-06
33834 22 H/Y None rs534907370 0.2155 None 1000 genomes 1.99681E-04
33834 22 H/Y None rs534907370 0.2155 None gnomAD-4.0.0 6.81644E-06
33835 23 R/C None rs781516399 0.1969 None gnomAD-2.1.1 8.05E-06
33835 23 R/C None rs781516399 0.1969 None gnomAD-4.0.0 7.95699E-06
33835 23 R/H None rs373854384 0.1969 None gnomAD-2.1.1 3.57E-05
33835 23 R/H None rs373854384 0.1969 None gnomAD-3.1.2 1.31E-05
33835 23 R/H None rs373854384 0.1969 None gnomAD-4.0.0 1.48727E-05
33836 24 C/S None rs766439271 0.0808 None gnomAD-2.1.1 1.14305E-04
33836 24 C/S None rs766439271 0.0808 None gnomAD-3.1.2 6.57E-05
33836 24 C/S None rs766439271 0.0808 None gnomAD-4.0.0 1.00388E-04
33836 24 C/W None None 0.0808 None gnomAD-4.0.0 6.84207E-07
33837 25 V/A None rs1274232213 0.2355 None gnomAD-2.1.1 4.02E-06
33837 25 V/A None rs1274232213 0.2355 None gnomAD-4.0.0 5.47366E-06
33838 26 E/K None rs750880689 0.1010 None gnomAD-2.1.1 4.02E-06
33838 26 E/K None rs750880689 0.1010 None gnomAD-4.0.0 3.1826E-06
33839 27 T/I None None 0.5536 None gnomAD-4.0.0 1.59131E-06
33840 28 S/F None rs1202069310 0.5034 None gnomAD-3.1.2 1.31E-05
33840 28 S/F None rs1202069310 0.5034 None gnomAD-4.0.0 5.12462E-06
33840 28 S/T None None 0.5034 None gnomAD-4.0.0 1.59125E-06
33842 30 K/E None rs2154136431 0.8519 None gnomAD-3.1.2 6.57E-06
33842 30 K/E None rs2154136431 0.8519 None gnomAD-4.0.0 6.56573E-06
33843 31 K/N None rs377406091 0.4012 None gnomAD-2.1.1 4.02E-06
33843 31 K/N None rs377406091 0.4012 None gnomAD-3.1.2 6.57E-06
33843 31 K/N None rs377406091 0.4012 None gnomAD-4.0.0 7.68634E-06
33844 32 T/I None rs1559043994 0.1500 None gnomAD-2.1.1 4.02E-06
33844 32 T/I None rs1559043994 0.1500 None gnomAD-3.1.2 6.57E-06
33844 32 T/I None rs1559043994 0.1500 None gnomAD-4.0.0 2.56211E-06
33845 33 Y/H None rs1227515280 0.1337 None gnomAD-2.1.1 4.02E-06
33845 33 Y/H None rs1227515280 0.1337 None gnomAD-4.0.0 6.36468E-06
33846 34 M/I None rs1690830241 0.1041 None gnomAD-4.0.0 1.20032E-06
33846 34 M/V None rs565546848 0.1041 None gnomAD-2.1.1 1.21E-05
33846 34 M/V None rs565546848 0.1041 None gnomAD-3.1.2 2.63E-05
33846 34 M/V None rs565546848 0.1041 None 1000 genomes 1.99681E-04
33846 34 M/V None rs565546848 0.1041 None gnomAD-4.0.0 8.05491E-06
33847 35 A/D None None 0.1022 None gnomAD-4.0.0 1.3684E-06
33847 35 A/V None rs1690829202 0.1022 None gnomAD-4.0.0 6.84199E-07
33848 36 K/N None rs774004640 0.1198 None gnomAD-2.1.1 2.01E-05
33848 36 K/N None rs774004640 0.1198 None gnomAD-4.0.0 2.05253E-05
33848 36 K/R None rs759258408 0.1198 None gnomAD-2.1.1 4.02E-06
33848 36 K/R None rs759258408 0.1198 None gnomAD-4.0.0 1.59109E-06
33849 37 F/C None None 0.2111 None gnomAD-4.0.0 2.73673E-06
33850 38 V/D None None 0.1671 None gnomAD-4.0.0 6.84178E-07
33850 38 V/G None None 0.1671 None gnomAD-4.0.0 6.84178E-07
33850 38 V/I None rs1176483211 0.1671 None gnomAD-3.1.2 6.57E-06
33850 38 V/I None rs1176483211 0.1671 None gnomAD-4.0.0 6.57099E-06
33851 39 K/N None None 0.6163 None gnomAD-4.0.0 2.40064E-06
33851 39 K/Q None rs1394900631 0.6163 None gnomAD-2.1.1 8.04E-06
33851 39 K/Q None rs1394900631 0.6163 None gnomAD-4.0.0 3.18224E-06
33851 39 K/T None rs770508302 0.6163 None gnomAD-2.1.1 4.02E-06
33851 39 K/T None rs770508302 0.6163 None gnomAD-4.0.0 1.59113E-06
33853 41 K/E None rs727505163 0.4304 None gnomAD-2.1.1 7.14E-06
33853 41 K/E None rs727505163 0.4304 None gnomAD-3.1.2 6.57E-06
33853 41 K/E None rs727505163 0.4304 None gnomAD-4.0.0 3.84262E-06
33854 42 G/R None None 0.3648 None gnomAD-4.0.0 6.84185E-07
33855 43 T/A None None 0.8743 None gnomAD-4.0.0 1.20039E-06
33855 43 T/P None None 0.8743 None gnomAD-4.0.0 1.20039E-06
33857 45 Q/H None rs1690812361 0.1095 None gnomAD-4.0.0 1.36838E-06
33857 45 Q/R None None 0.1095 None gnomAD-4.0.0 1.20032E-06
33858 46 V/D None rs1172459056 0.4483 None gnomAD-3.1.2 1.31E-05
33858 46 V/D None rs1172459056 0.4483 None gnomAD-4.0.0 1.85904E-06
33858 46 V/G None None 0.4483 None gnomAD-4.0.0 2.73674E-06
33858 46 V/L None rs1060500584 0.4483 None gnomAD-3.1.2 6.57E-06
33858 46 V/L None rs1060500584 0.4483 None gnomAD-4.0.0 6.57117E-06
33860 48 V/I None rs141082389 0.1424 None gnomAD-2.1.1 4.02E-06
33860 48 V/I None rs141082389 0.1424 None gnomAD-3.1.2 2.63E-05
33860 48 V/I None rs141082389 0.1424 None 1000 genomes 1.99681E-04
33860 48 V/I None rs141082389 0.1424 None gnomAD-4.0.0 8.05524E-06
33863 51 E/G None None 0.1511 None gnomAD-4.0.0 4.80129E-06
33863 51 E/K None rs1690803197 0.1511 None gnomAD-4.0.0 3.18234E-06
33864 52 I/V None None 0.1257 None gnomAD-4.0.0 2.0526E-06
33866 54 I/V None None 0.1384 None gnomAD-4.0.0 1.59122E-06
33867 55 L/M None None 0.1219 None gnomAD-4.0.0 1.36841E-06
33867 55 L/V None rs76194811 0.1219 None gnomAD-2.1.1 8.03E-05
33867 55 L/V None rs76194811 0.1219 None gnomAD-3.1.2 2.63E-05
33867 55 L/V None rs76194811 0.1219 None 1000 genomes 1.99681E-04
33867 55 L/V None rs76194811 0.1219 None gnomAD-4.0.0 4.77136E-05
33868 56 N/I None rs748022692 0.1603 None gnomAD-2.1.1 4.02E-06
33868 56 N/I None rs748022692 0.1603 None gnomAD-4.0.0 1.59122E-06
33869 57 I/T None rs1253957228 0.2810 None gnomAD-2.1.1 8.03E-06
33869 57 I/T None rs1253957228 0.2810 None gnomAD-3.1.2 1.97E-05
33869 57 I/T None rs1253957228 0.2810 None gnomAD-4.0.0 9.91477E-06
33870 58 A/G None rs935055445 0.1102 None gnomAD-2.1.1 4.02E-06
33870 58 A/G None rs935055445 0.1102 None gnomAD-4.0.0 4.78957E-06
33871 59 R/K None rs1456770394 0.1139 None gnomAD-2.1.1 4.02E-06
33871 59 R/K None rs1456770394 0.1139 None gnomAD-3.1.2 1.31E-05
33871 59 R/K None rs1456770394 0.1139 None gnomAD-4.0.0 3.84353E-06
33871 59 R/S None rs797046068 0.1139 None gnomAD-4.0.0 7.52649E-06
33872 60 H/N None rs1690791818 0.1280 None gnomAD-4.0.0 1.59142E-06
33872 60 H/Q None rs1275685669 0.1280 None gnomAD-2.1.1 4.02E-06
33872 60 H/Q None rs1275685669 0.1280 None gnomAD-4.0.0 6.84242E-07
33872 60 H/R None None 0.1280 None gnomAD-4.0.0 1.20032E-06
33873 61 R/G None None 0.3716 None gnomAD-4.0.0 1.59141E-06
33873 61 R/T None None 0.3716 None gnomAD-4.0.0 1.59144E-06
33875 63 I/V None rs1343609511 0.0890 None gnomAD-2.1.1 4.02E-06
33875 63 I/V None rs1343609511 0.0890 None gnomAD-4.0.0 2.05279E-06
33877 65 H/N None rs1690786587 0.2477 None gnomAD-4.0.0 6.84306E-07
33877 65 H/Q None rs755256603 0.2477 None gnomAD-2.1.1 4.02E-06
33877 65 H/Q None rs755256603 0.2477 None gnomAD-4.0.0 6.84314E-07
33877 65 H/Y None rs1690786587 0.2477 None gnomAD-4.0.0 6.84306E-07
33878 66 L/F None rs1235957959 0.0873 None gnomAD-4.0.0 6.8432E-07
33879 67 H/R None rs762414833 0.2539 None gnomAD-2.1.1 1.21E-05
33879 67 H/R None rs762414833 0.2539 None gnomAD-4.0.0 4.10608E-06
33879 67 H/Y None rs1247427318 0.2539 None gnomAD-2.1.1 3.18E-05
33879 67 H/Y None rs1247427318 0.2539 None gnomAD-3.1.2 1.31E-05
33879 67 H/Y None rs1247427318 0.2539 None gnomAD-4.0.0 6.40828E-06
33880 68 E/A None rs1690780313 0.0879 None gnomAD-4.0.0 1.36875E-06
33880 68 E/Q None None 0.0879 None gnomAD-4.0.0 1.20032E-06
33883 71 E/G None rs1329397426 0.2661 None gnomAD-2.1.1 4.03E-06
33883 71 E/G None rs1329397426 0.2661 None gnomAD-4.0.0 1.59281E-06
33883 71 E/K None None 0.2661 None gnomAD-4.0.0 1.20032E-06
33884 72 S/R None rs758420542 0.2044 None gnomAD-2.1.1 4.03E-06
33884 72 S/R None rs758420542 0.2044 None gnomAD-4.0.0 1.59328E-06
33885 73 M/I None rs777177959 0.7761 None gnomAD-2.1.1 8.06E-06
33885 73 M/I None rs777177959 0.7761 None gnomAD-3.1.2 6.57E-06
33885 73 M/I None rs777177959 0.7761 None gnomAD-4.0.0 1.42606E-05
33885 73 M/T None None 0.7761 None gnomAD-4.0.0 1.20032E-06
33886 74 E/D None rs1171862038 0.6299 None gnomAD-4.0.0 1.36932E-06
33886 74 E/Q None None 0.6299 None gnomAD-4.0.0 2.40065E-06
33887 75 E/K None rs1455680068 0.2789 None gnomAD-2.1.1 1.61E-05
33887 75 E/K None rs1455680068 0.2789 None gnomAD-3.1.2 1.97E-05
33887 75 E/K None rs1455680068 0.2789 None gnomAD-4.0.0 4.34036E-06
33888 76 L/S None rs549890031 0.1185 None gnomAD-2.1.1 8.07E-06
33888 76 L/S None rs549890031 0.1185 None gnomAD-3.1.2 6.57E-06
33888 76 L/S None rs549890031 0.1185 None 1000 genomes 1.99681E-04
33888 76 L/S None rs549890031 0.1185 None gnomAD-4.0.0 1.86014E-06
33889 77 V/I None rs34924609 0.0905 None gnomAD-2.1.1 3.11952E-03
33889 77 V/I None rs34924609 0.0905 None gnomAD-3.1.2 3.52187E-03
33889 77 V/I None rs34924609 0.0905 None 1000 genomes 1.19808E-03
33889 77 V/I None rs34924609 0.0905 None gnomAD-4.0.0 5.39094E-03
33890 78 M/I None None 0.1258 None gnomAD-4.0.0 6.84854E-07
33890 78 M/L None rs754298968 0.1258 None gnomAD-2.1.1 1.21E-05
33890 78 M/L None rs754298968 0.1258 None gnomAD-4.0.0 6.37696E-06
33893 81 E/D None rs764487443 0.1109 None gnomAD-2.1.1 1.21E-05
33893 81 E/D None rs764487443 0.1109 None gnomAD-3.1.2 1.31E-05
33893 81 E/D None rs764487443 0.1109 None gnomAD-4.0.0 6.20361E-06
33893 81 E/K None None 0.1109 None gnomAD-4.0.0 3.60097E-06
33894 82 F/I None None 0.1249 None gnomAD-4.0.0 2.40065E-06
33895 83 I/L None rs759278414 0.1256 None gnomAD-4.0.0 6.85192E-07
33895 83 I/T None rs1575286728 0.1256 None gnomAD-3.1.2 6.57E-06
33895 83 I/T None rs1575286728 0.1256 None gnomAD-4.0.0 3.10224E-06
33895 83 I/V None rs759278414 0.1256 None gnomAD-2.1.1 4.05E-06
33895 83 I/V None rs759278414 0.1256 None gnomAD-3.1.2 6.57E-06
33895 83 I/V None rs759278414 0.1256 None gnomAD-4.0.0 1.86142E-06
33896 84 S/L None rs376813674 0.0918 None gnomAD-2.1.1 4.05E-06
33896 84 S/L None rs376813674 0.0918 None gnomAD-3.1.2 1.97E-05
33896 84 S/L None rs376813674 0.0918 None gnomAD-4.0.0 4.96493E-06
33897 85 G/V None None 0.0871 None gnomAD-4.0.0 1.20033E-06
33898 86 L/F None rs371930491 0.1912 None gnomAD-4.0.0 2.74189E-06
33898 86 L/P None rs1575286611 0.1912 None gnomAD-4.0.0 2.40067E-06
33899 87 D/G None rs794729560 0.0733 None gnomAD-2.1.1 4.06E-06
33899 87 D/G None rs794729560 0.0733 None gnomAD-4.0.0 3.1973E-06
33901 89 F/S None None 0.1060 None gnomAD-4.0.0 6.85716E-07
33902 90 E/K None rs762592218 0.1646 None gnomAD-2.1.1 3.18E-05
33902 90 E/K None rs762592218 0.1646 None gnomAD-3.1.2 6.57E-06
33902 90 E/K None rs762592218 0.1646 None gnomAD-4.0.0 2.48411E-06
33902 90 E/Q None rs762592218 0.1646 None gnomAD-2.1.1 4.06E-06
33902 90 E/Q None rs762592218 0.1646 None gnomAD-4.0.0 4.11508E-06
33903 91 R/C None rs772574722 0.1175 None gnomAD-2.1.1 4.69E-05
33903 91 R/C None rs772574722 0.1175 None gnomAD-3.1.2 3.94E-05
33903 91 R/C None rs772574722 0.1175 None gnomAD-4.0.0 2.60895E-05
33903 91 R/H None rs72629782 0.1175 None gnomAD-2.1.1 2.41827E-04
33903 91 R/H None rs72629782 0.1175 None gnomAD-3.1.2 1.90576E-04
33903 91 R/H None rs72629782 0.1175 None 1000 genomes 5.99042E-04
33903 91 R/H None rs72629782 0.1175 Other
Literature None
33903 91 R/H None rs72629782 0.1175 None gnomAD-4.0.0 9.25565E-05
33903 91 R/L None rs72629782 0.1175 None gnomAD-4.0.0 1.37218E-06
33903 91 R/S None None 0.1175 None gnomAD-3.1.2 6.57E-06
33903 91 R/S None None 0.1175 None gnomAD-4.0.0 2.48471E-06
33904 92 I/T None rs748029947 0.1192 None gnomAD-2.1.1 4.07E-06
33904 92 I/T None rs748029947 0.1192 None gnomAD-4.0.0 7.54692E-06
33904 92 I/V None None 0.1192 None gnomAD-4.0.0 1.08029E-05
33906 94 T/I None rs776487376 0.2735 None gnomAD-2.1.1 4.08E-06
33906 94 T/I None rs776487376 0.2735 None gnomAD-4.0.0 6.8625E-07
33906 94 T/P None None 0.2735 None gnomAD-4.0.0 1.20032E-06
33906 94 T/R None None 0.2735 None gnomAD-4.0.0 2.745E-06
33909 97 F/I None rs1015489403 0.2015 None gnomAD-3.1.2 6.57E-06
33909 97 F/I None rs1015489403 0.2015 None gnomAD-4.0.0 6.56944E-06
33909 97 F/V None rs1015489403 0.2015 None gnomAD-2.1.1 8.16E-06
33909 97 F/V None rs1015489403 0.2015 None gnomAD-3.1.2 6.57E-06
33909 97 F/V None rs1015489403 0.2015 None gnomAD-4.0.0 3.72865E-06
33910 98 E/K None rs943777958 0.6837 None gnomAD-2.1.1 2.53E-05
33910 98 E/K None rs943777958 0.6837 None gnomAD-3.1.2 1.31E-05
33910 98 E/K None rs943777958 0.6837 None gnomAD-4.0.0 2.29979E-05
33911 99 L/F None None 0.1306 None gnomAD-4.0.0 1.20032E-06
33912 100 N/S None rs1436628843 0.1387 None gnomAD-2.1.1 4.08E-06
33912 100 N/S None rs1436628843 0.1387 None gnomAD-3.1.2 6.57E-06
33912 100 N/S None rs1436628843 0.1387 None gnomAD-4.0.0 2.5788E-06
33913 101 E/G None None 0.1141 None gnomAD-4.0.0 2.40064E-06
33913 101 E/K None rs1376195366 0.1141 None gnomAD-2.1.1 4.09E-06
33913 101 E/K None rs1376195366 0.1141 None gnomAD-4.0.0 2.05995E-06
33913 101 E/Q None rs1376195366 0.1141 None gnomAD-4.0.0 6.86651E-07
33914 102 R/T None None 0.2456 None gnomAD-4.0.0 1.60466E-06
33915 103 E/K None rs1690736229 0.2422 None gnomAD-3.1.2 6.57E-06
33915 103 E/K None rs1690736229 0.2422 None gnomAD-4.0.0 6.57047E-06
33917 105 V/I None rs768379988 0.1045 None gnomAD-2.1.1 1.63E-05
33917 105 V/I None rs768379988 0.1045 None gnomAD-3.1.2 6.57E-06
33917 105 V/I None rs768379988 0.1045 None gnomAD-4.0.0 1.67863E-05
33917 105 V/L None rs768379988 0.1045 None gnomAD-4.0.0 6.86694E-07
33918 106 S/G None rs1363833448 0.2310 None gnomAD-2.1.1 3.18E-05
33918 106 S/G None rs1363833448 0.2310 None gnomAD-3.1.2 6.57E-06
33918 106 S/G None rs1363833448 0.2310 None gnomAD-4.0.0 6.5697E-06
33918 106 S/R None rs952080555 0.2310 None gnomAD-2.1.1 4.09E-06
33918 106 S/R None rs952080555 0.2310 None gnomAD-4.0.0 3.20916E-06
33919 107 Y/F None None 0.1281 None gnomAD-4.0.0 1.6046E-06
33921 109 H/Y None rs1410541718 0.3490 None gnomAD-2.1.1 4.09E-06
33921 109 H/Y None rs1410541718 0.3490 None gnomAD-4.0.0 2.05989E-06
33922 110 Q/H None rs55886356 0.0953 None gnomAD-2.1.1 7.06851E-03
33922 110 Q/H None rs55886356 0.0953 None gnomAD-3.1.2 7.54697E-03
33922 110 Q/H None rs55886356 0.0953 None 1000 genomes 4.59265E-03
33922 110 Q/H None rs55886356 0.0953 None gnomAD-4.0.0 1.00219E-02
33922 110 Q/R None None 0.0953 None gnomAD-4.0.0 6.86511E-07
33923 111 V/I None None 0.1498 None gnomAD-4.0.0 6.86481E-07
33924 112 C/Y None None 0.0870 None gnomAD-4.0.0 6.86374E-07
33925 113 E/G None None 0.2429 None gnomAD-4.0.0 6.86249E-07
33925 113 E/K None rs780205747 0.2429 None gnomAD-2.1.1 1.22E-05
33925 113 E/K None rs780205747 0.2429 None gnomAD-4.0.0 8.01333E-06
33928 116 Q/R None rs772264395 0.2957 None gnomAD-3.1.2 6.57E-06
33928 116 Q/R None rs772264395 0.2957 None gnomAD-4.0.0 1.41607E-05
33929 117 F/S None None 0.1779 None gnomAD-4.0.0 1.60075E-06
33930 118 L/S None None 0.1341 None gnomAD-4.0.0 2.40067E-06
33931 119 H/Y None rs746021065 0.1662 None gnomAD-2.1.1 4.07E-06
33931 119 H/Y None rs746021065 0.1662 None gnomAD-4.0.0 1.60008E-06
33933 121 H/N None None 0.4220 None gnomAD-4.0.0 1.59916E-06
33933 121 H/Q None rs757788117 0.4220 None gnomAD-2.1.1 4.06E-06
33933 121 H/Q None rs757788117 0.4220 None gnomAD-3.1.2 6.57E-06
33933 121 H/Q None rs757788117 0.4220 None gnomAD-4.0.0 6.56953E-06
33933 121 H/R None rs778857510 0.4220 None gnomAD-2.1.1 2.44E-05
33933 121 H/R None rs778857510 0.4220 None gnomAD-4.0.0 1.16545E-05
33934 122 N/S None None 0.3605 None gnomAD-4.0.0 1.59831E-06
33935 123 I/M None rs76106451 0.1065 None gnomAD-2.1.1 2.16E-05
33935 123 I/M None rs76106451 0.1065 None gnomAD-3.1.2 1.97E-05
33935 123 I/M None rs76106451 0.1065 None 1000 genomes 1.99681E-04
33935 123 I/M None rs76106451 0.1065 None gnomAD-4.0.0 1.24114E-05
33935 123 I/T None rs778304667 0.1065 None gnomAD-2.1.1 4.05E-06
33935 123 I/T None rs778304667 0.1065 None gnomAD-4.0.0 1.37078E-06
33935 123 I/V None rs56376197 0.1065 None gnomAD-2.1.1 5.00068E-03
33935 123 I/V None rs56376197 0.1065 None gnomAD-3.1.2 1.49078E-02
33935 123 I/V None rs56376197 0.1065 None 1000 genomes 1.23802E-02
33935 123 I/V None rs56376197 0.1065 None gnomAD-4.0.0 2.72457E-03
33936 124 G/A None rs753079587 0.1034 None gnomAD-2.1.1 1.08E-05
33936 124 G/A None rs753079587 0.1034 None gnomAD-4.0.0 2.39871E-05
33936 124 G/E None None 0.1034 None gnomAD-4.0.0 6.85346E-07
33937 125 H/N None rs1690708183 0.1141 None gnomAD-4.0.0 3.1943E-06
33939 127 D/E None None 0.1138 None gnomAD-4.0.0 1.59602E-06
33939 127 D/Y None None 0.1138 None gnomAD-4.0.0 1.59637E-06
33940 128 I/T None rs184789288 0.1408 None gnomAD-3.1.2 6.57E-06
33940 128 I/T None rs184789288 0.1408 None 1000 genomes 1.99681E-04
33940 128 I/T None rs184789288 0.1408 None gnomAD-4.0.0 6.56694E-06
33940 128 I/V None rs1354041065 0.1408 None gnomAD-2.1.1 4.05E-06
33940 128 I/V None rs1354041065 0.1408 None gnomAD-4.0.0 1.59572E-06
33941 129 R/T None rs762498249 0.1319 None gnomAD-2.1.1 1.08E-05
33941 129 R/T None rs762498249 0.1319 None gnomAD-3.1.2 2.63E-05
33941 129 R/T None rs762498249 0.1319 None gnomAD-4.0.0 7.70074E-06
33943 131 E/G None None 0.1833 None gnomAD-4.0.0 1.20032E-06
33944 132 N/S None rs2154136201 0.1463 None gnomAD-4.0.0 2.73857E-06
33944 132 N/Y None rs1690702377 0.1463 None gnomAD-4.0.0 4.78086E-06
33945 133 I/T None None 0.0966 None gnomAD-4.0.0 2.40064E-06
33945 133 I/V None rs1356126685 0.0966 None gnomAD-2.1.1 4.03E-06
33945 133 I/V None rs1356126685 0.0966 None gnomAD-4.0.0 6.37314E-06
33946 134 I/T None rs1559041085 0.0670 None gnomAD-4.0.0 1.20032E-06
33947 135 Y/C None rs557060548 0.1121 None gnomAD-2.1.1 4.03E-06
33947 135 Y/C None rs557060548 0.1121 None gnomAD-3.1.2 1.31E-05
33947 135 Y/C None rs557060548 0.1121 None 1000 genomes 1.99681E-04
33947 135 Y/C None rs557060548 0.1121 None gnomAD-4.0.0 2.47939E-06
33947 135 Y/S None rs557060548 0.1121 None gnomAD-4.0.0 1.36892E-06
33949 137 T/I None rs1559040993 0.1156 None gnomAD-2.1.1 3.18E-05
33949 137 T/I None rs1559040993 0.1156 None gnomAD-3.1.2 6.57E-06
33949 137 T/I None rs1559040993 0.1156 None gnomAD-4.0.0 6.57358E-06
33950 138 R/G None rs1013907314 0.2710 None gnomAD-3.1.2 6.57E-06
33950 138 R/G None rs1013907314 0.2710 None gnomAD-4.0.0 3.71867E-06
33951 139 R/S None rs761821275 0.7366 None gnomAD-2.1.1 2.01E-05
33951 139 R/S None rs761821275 0.7366 None gnomAD-4.0.0 6.36665E-06
33953 141 S/C None rs1575284524 0.4438 None gnomAD-4.0.0 9.54885E-06
33954 142 T/I None rs368172120 0.2183 None gnomAD-4.0.0 2.0527E-06
33954 142 T/N None rs368172120 0.2183 None gnomAD-2.1.1 4.02E-06
33956 144 K/E None None 0.1097 None gnomAD-4.0.0 6.84214E-07
33956 144 K/Q None rs1690684721 0.1097 None gnomAD-3.1.2 1.31E-05
33956 144 K/Q None rs1690684721 0.1097 None gnomAD-4.0.0 3.71808E-06
33957 145 I/L None None 0.1352 None gnomAD-4.0.0 1.59129E-06
33958 146 I/T None rs760516584 0.1213 None gnomAD-2.1.1 2.01E-05
33958 146 I/T None rs760516584 0.1213 None gnomAD-3.1.2 1.31E-05
33958 146 I/T None rs760516584 0.1213 None gnomAD-4.0.0 1.23937E-05
33959 147 E/K None rs886055224 0.1326 None gnomAD-2.1.1 4.02E-06
33959 147 E/K None rs886055224 0.1326 None gnomAD-3.1.2 2.63E-05
33959 147 E/K None rs886055224 0.1326 None gnomAD-4.0.0 1.42532E-05
33959 147 E/V None None 0.1326 None gnomAD-4.0.0 1.20032E-06
33960 148 F/L None rs1690680023 0.1923 None gnomAD-3.1.2 6.57E-06
33960 148 F/L None rs1690680023 0.1923 None gnomAD-4.0.0 6.57341E-06
33960 148 F/S None rs1690678952 0.1923 None gnomAD-3.1.2 6.57E-06
33960 148 F/S None rs1690678952 0.1923 None gnomAD-4.0.0 2.56202E-06
33961 149 G/A None None 0.1720 None gnomAD-4.0.0 6.84197E-07
33961 149 G/S None rs775256517 0.1720 None gnomAD-2.1.1 4.02E-06
33961 149 G/S None rs775256517 0.1720 None gnomAD-4.0.0 1.36841E-06
33961 149 G/V None rs1184245523 0.1720 None gnomAD-2.1.1 4.02E-06
33961 149 G/V None rs1184245523 0.1720 None gnomAD-4.0.0 6.84197E-07
33962 150 Q/R None None 0.1394 None gnomAD-4.0.0 1.59119E-06
33964 152 R/C None rs779064623 0.1954 None gnomAD-2.1.1 8.04E-06
33964 152 R/C None rs779064623 0.1954 None gnomAD-3.1.2 1.97E-05
33964 152 R/C None rs779064623 0.1954 None gnomAD-4.0.0 1.23943E-05
33964 152 R/G None rs779064623 0.1954 None gnomAD-2.1.1 4.02E-06
33964 152 R/G None rs779064623 0.1954 None gnomAD-3.1.2 6.57E-06
33964 152 R/G None rs779064623 0.1954 None gnomAD-4.0.0 6.57471E-06
33964 152 R/H None rs55669553 0.1954 None gnomAD-2.1.1 3.45492E-03
33964 152 R/H None rs55669553 0.1954 None gnomAD-3.1.2 1.77468E-03
33964 152 R/H None rs55669553 0.1954 None 1000 genomes 5.99042E-03
33964 152 R/H None rs55669553 0.1954 None gnomAD-4.0.0 2.20038E-03
33964 152 R/L None None 0.1954 None gnomAD-4.0.0 1.36841E-06
33964 152 R/S None None 0.1954 None gnomAD-2.1.1 5.71E-05
33964 152 R/S None None 0.1954 None gnomAD-3.1.2 3.29E-05
33964 152 R/S None None 0.1954 None gnomAD-4.0.0 8.42812E-05
33965 153 Q/H None None 0.4965 None gnomAD-4.0.0 1.59124E-06
33965 153 Q/R None None 0.4965 None gnomAD-4.0.0 1.20032E-06
33967 155 K/I None None 0.4158 None gnomAD-4.0.0 1.59121E-06
33969 157 G/E None None 0.2505 None gnomAD-4.0.0 1.20032E-06
33970 158 D/N None rs749832500 0.2386 None gnomAD-2.1.1 1.21E-05
33970 158 D/N None rs749832500 0.2386 None gnomAD-3.1.2 6.57E-06
33970 158 D/N None rs749832500 0.2386 None gnomAD-4.0.0 4.33801E-06
33971 159 N/D None None 0.3851 None gnomAD-4.0.0 1.59125E-06
33972 160 F/S None None 0.1626 None gnomAD-4.0.0 1.59127E-06
33976 164 F/L None None 0.0978 None gnomAD-4.0.0 1.59127E-06
33976 164 F/S None None 0.0978 None gnomAD-4.0.0 6.84211E-07
33976 164 F/Y None None 0.0978 None gnomAD-4.0.0 1.36842E-06
33977 165 T/A None rs1434947550 0.4247 None gnomAD-3.1.2 1.31E-05
33977 165 T/A None rs1434947550 0.4247 None gnomAD-4.0.0 3.04476E-06
33977 165 T/I None None 0.4247 None gnomAD-4.0.0 3.1826E-06
33978 166 A/T None rs756665400 0.1159 None gnomAD-2.1.1 4.02E-06
33978 166 A/T None rs756665400 0.1159 None gnomAD-4.0.0 1.36847E-06
33979 167 P/R None rs200238877 0.1692 None gnomAD-2.1.1 2.99908E-04
33979 167 P/R None rs200238877 0.1692 None gnomAD-3.1.2 8.67451E-04
33979 167 P/R None rs200238877 0.1692 None 1000 genomes 9.98403E-04
33979 167 P/R None rs200238877 0.1692 None gnomAD-4.0.0 1.67309E-04
33980 168 E/D None rs2154136129 0.0697 None gnomAD-3.1.2 6.57E-06
33980 168 E/D None rs2154136129 0.0697 None gnomAD-4.0.0 6.56538E-06
33980 168 E/G None rs1559040103 0.0697 None gnomAD-2.1.1 4.02E-06
33980 168 E/G None rs1559040103 0.0697 None gnomAD-4.0.0 1.59129E-06
33980 168 E/K None None 0.0697 None gnomAD-4.0.0 6.84228E-07
33980 168 E/Q None None 0.0697 None gnomAD-4.0.0 2.05268E-06
33981 169 Y/H None rs781686886 0.0900 None gnomAD-2.1.1 1.21E-05
33981 169 Y/H None rs781686886 0.0900 None gnomAD-3.1.2 3.29E-05
33981 169 Y/H None rs781686886 0.0900 None gnomAD-4.0.0 9.9151E-06
33982 170 Y/C None rs888342815 0.1031 None gnomAD-3.1.2 6.57E-06
33982 170 Y/C None rs888342815 0.1031 None gnomAD-4.0.0 6.57047E-06
33982 170 Y/D None rs1289613235 0.1031 None gnomAD-2.1.1 4.02E-06
33982 170 Y/D None rs1289613235 0.1031 None gnomAD-4.0.0 6.84224E-07
33982 170 Y/F None None 0.1031 None gnomAD-4.0.0 3.18277E-06
33982 170 Y/H None rs1289613235 0.1031 None gnomAD-2.1.1 4.02E-06
33982 170 Y/H None rs1289613235 0.1031 None gnomAD-4.0.0 1.36845E-06
33984 172 P/H None None 0.0983 None gnomAD-4.0.0 1.36852E-06
33984 172 P/L None rs1392647027 0.0983 None gnomAD-2.1.1 4.02E-06
33984 172 P/L None rs1392647027 0.0983 None gnomAD-4.0.0 1.36852E-06
33984 172 P/R None None 0.0983 None gnomAD-4.0.0 6.84258E-07
33984 172 P/S None None 0.0983 None gnomAD-4.0.0 3.18299E-06
33985 173 E/Q None rs534613934 0.0749 None gnomAD-2.1.1 4.64E-05
33985 173 E/Q None rs534613934 0.0749 None gnomAD-3.1.2 5.91E-05
33985 173 E/Q None rs534613934 0.0749 None 1000 genomes 3.99361E-04
33985 173 E/Q None rs534613934 0.0749 None gnomAD-4.0.0 4.48352E-05
33986 174 V/D None None 0.0965 None gnomAD-4.0.0 3.60097E-06
33986 174 V/I None None 0.0965 None gnomAD-4.0.0 1.59164E-06
33987 175 H/N None rs1690646810 0.1531 None gnomAD-4.0.0 1.59176E-06
33987 175 H/R None None 0.1531 None gnomAD-4.0.0 1.59172E-06
33987 175 H/Y None rs1690646810 0.1531 None gnomAD-3.1.2 6.57E-06
33987 175 H/Y None rs1690646810 0.1531 None gnomAD-4.0.0 6.57117E-06
33988 176 Q/H None rs1690644273 0.3796 None gnomAD-3.1.2 6.57E-06
33988 176 Q/H None rs1690644273 0.3796 None gnomAD-4.0.0 6.56961E-06
33989 177 H/Y None rs1462346829 0.3706 None gnomAD-2.1.1 8.04E-06
33989 177 H/Y None rs1462346829 0.3706 None gnomAD-4.0.0 4.77509E-06
33991 179 V/F None rs1423532628 0.2105 None gnomAD-2.1.1 8.04E-06
33991 179 V/F None rs1423532628 0.2105 None gnomAD-4.0.0 4.77544E-06
33992 180 V/D None None 0.1049 None gnomAD-4.0.0 1.20032E-06
33992 180 V/I None None 0.1049 None gnomAD-4.0.0 1.20032E-06
33993 181 S/N None None 0.1539 None gnomAD-4.0.0 1.59193E-06
33994 182 T/K None rs1419643205 0.2174 None gnomAD-2.1.1 4.02E-06
33994 182 T/K None rs1419643205 0.2174 None gnomAD-3.1.2 6.57E-06
33994 182 T/K None rs1419643205 0.2174 None gnomAD-4.0.0 8.96875E-06
33996 184 T/I None None 0.1170 None gnomAD-4.0.0 1.59158E-06
33997 185 D/N None None 0.1111 None gnomAD-4.0.0 1.59169E-06
33998 186 M/T None rs1559039438 0.0902 None gnomAD-4.0.0 1.59151E-06
33998 186 M/V None None 0.0902 None gnomAD-4.0.0 1.59161E-06
33999 187 W/C None rs764821435 0.0808 None gnomAD-2.1.1 1.21E-05
33999 187 W/C None rs764821435 0.0808 None gnomAD-4.0.0 4.77458E-06
33999 187 W/R None None 0.0808 None gnomAD-4.0.0 1.20032E-06
33999 187 W/S None None 0.0808 None gnomAD-4.0.0 6.84273E-07
34000 188 S/T None rs1452192430 0.0808 None gnomAD-2.1.1 4.02E-06
34000 188 S/T None rs1452192430 0.0808 None gnomAD-4.0.0 1.59151E-06
34001 189 L/F None rs1225450640 0.1514 None gnomAD-3.1.2 6.57E-06
34001 189 L/F None rs1225450640 0.1514 None gnomAD-4.0.0 2.02983E-06
34003 191 T/P None None 0.0806 None gnomAD-4.0.0 1.36845E-06
34004 192 L/P None None 0.1025 None gnomAD-4.0.0 1.36845E-06
34004 192 L/Q None rs727504897 0.1025 None gnomAD-2.1.1 8.04E-06
34004 192 L/Q None rs727504897 0.1025 None gnomAD-4.0.0 1.36845E-05
34004 192 L/V None None 0.1025 None gnomAD-4.0.0 1.20032E-06
34006 194 Y/H None None 0.0649 None gnomAD-4.0.0 1.59124E-06
34007 195 V/A None rs370702360 0.0736 None gnomAD-2.1.1 4.02E-06
34007 195 V/A None rs370702360 0.0736 None gnomAD-3.1.2 6.57E-06
34007 195 V/A None rs370702360 0.0736 None gnomAD-4.0.0 6.57056E-06
34009 197 L/F None rs760604476 0.1376 None gnomAD-2.1.1 8.04E-06
34009 197 L/F None rs760604476 0.1376 None gnomAD-3.1.2 6.57E-06
34009 197 L/F None rs760604476 0.1376 None gnomAD-4.0.0 2.72657E-05
34010 198 S/N None None 0.0804 None gnomAD-4.0.0 2.73676E-06
34010 198 S/R None rs727503534 0.0804 None gnomAD-2.1.1 2.41E-05
34010 198 S/R None rs727503534 0.0804 None gnomAD-3.1.2 6.57E-06
34010 198 S/R None rs727503534 0.0804 None gnomAD-4.0.0 1.859E-06
34011 199 G/S None None 0.0845 None gnomAD-4.0.0 1.20032E-06
34012 200 I/S None None 0.1287 None gnomAD-4.0.0 4.10515E-06
34012 200 I/T None None 0.1287 None gnomAD-4.0.0 1.36838E-06
34014 202 P/L None rs1369028729 0.0795 None gnomAD-2.1.1 4.02E-06
34014 202 P/L None rs1369028729 0.0795 None gnomAD-4.0.0 1.59121E-06
34014 202 P/S None rs775271604 0.0795 None gnomAD-2.1.1 8.04E-06
34014 202 P/S None rs775271604 0.0795 None gnomAD-4.0.0 1.36839E-06
34014 202 P/T None rs775271604 0.0795 None gnomAD-2.1.1 8.04E-06
34014 202 P/T None rs775271604 0.0795 None gnomAD-3.1.2 1.31E-05
34014 202 P/T None rs775271604 0.0795 None gnomAD-4.0.0 1.48724E-05
34015 203 F/L None None 0.0741 None gnomAD-4.0.0 1.20032E-06
34018 206 E/A None None 0.8684 None gnomAD-4.0.0 1.20032E-06
34018 206 E/D None None 0.8684 None gnomAD-4.0.0 1.59121E-06
34019 207 T/I None None 0.2918 None gnomAD-4.0.0 1.20032E-06
34020 208 N/I None None 0.6494 None gnomAD-4.0.0 1.59122E-06
34021 209 Q/R None None 0.3522 None gnomAD-4.0.0 2.40064E-06
34022 210 Q/R None None 0.3643 None gnomAD-4.0.0 2.73679E-06
34023 211 I/N None rs1254337927 0.1085 None gnomAD-2.1.1 3.18E-05
34023 211 I/N None rs1254337927 0.1085 None gnomAD-3.1.2 6.57E-06
34023 211 I/N None rs1254337927 0.1085 None gnomAD-4.0.0 2.02987E-06
34024 212 I/F None None 0.2468 None gnomAD-4.0.0 1.20037E-06
34024 212 I/M None rs1296908123 0.2468 None gnomAD-2.1.1 4.02E-06
34024 212 I/M None rs1296908123 0.2468 None gnomAD-4.0.0 6.84203E-07
34024 212 I/T None rs779963495 0.2468 None gnomAD-2.1.1 4.02E-06
34024 212 I/T None rs779963495 0.2468 None gnomAD-4.0.0 4.10523E-06
34025 213 E/G None None 0.3262 None gnomAD-4.0.0 1.20032E-06
34025 213 E/K None None 0.3262 None gnomAD-4.0.0 1.36844E-06
34025 213 E/Q None None 0.3262 None gnomAD-4.0.0 2.05267E-06
34026 214 N/S None rs759826620 0.2006 None gnomAD-2.1.1 4.02E-06
34026 214 N/S None rs759826620 0.2006 None gnomAD-4.0.0 1.3684E-06
34027 215 I/V None rs1690594509 0.0485 None gnomAD-3.1.2 6.57E-06
34027 215 I/V None rs1690594509 0.0485 None gnomAD-4.0.0 6.56935E-06
34028 216 M/L None None 0.2021 None gnomAD-4.0.0 1.20045E-06
34030 218 A/P None None 0.1296 None gnomAD-4.0.0 1.59126E-06
34032 220 Y/C None rs1160872040 0.1998 None gnomAD-3.1.2 6.57E-06
34032 220 Y/C None rs1160872040 0.1998 None gnomAD-4.0.0 6.56927E-06
34032 220 Y/H None None 0.1998 None gnomAD-4.0.0 1.59129E-06
34033 221 T/S None None 0.5675 None gnomAD-4.0.0 1.59132E-06
34035 223 D/E None rs370647845 0.2866 None gnomAD-2.1.1 1.43E-05
34035 223 D/E None rs370647845 0.2866 None gnomAD-3.1.2 1.97E-05
34035 223 D/E None rs370647845 0.2866 None gnomAD-4.0.0 1.61122E-05
34035 223 D/N None rs144963736 0.2866 None gnomAD-2.1.1 9.46118E-04
34035 223 D/N None rs144963736 0.2866 None gnomAD-3.1.2 2.52333E-03
34035 223 D/N None rs144963736 0.2866 None 1000 genomes 2.99521E-03
34035 223 D/N None rs144963736 0.2866 None gnomAD-4.0.0 4.97589E-04
34035 223 D/Y None rs144963736 0.2866 None gnomAD-2.1.1 3.18E-05
34035 223 D/Y None rs144963736 0.2866 None gnomAD-3.1.2 6.57E-06
34035 223 D/Y None rs144963736 0.2866 None gnomAD-4.0.0 6.57108E-06
34036 224 E/K None None 0.7180 None gnomAD-4.0.0 2.7369E-06
34037 225 E/A None None 0.6494 None gnomAD-4.0.0 1.20032E-06
34038 226 A/P None None 0.1309 None gnomAD-4.0.0 6.84246E-07
34038 226 A/T None rs1690579265 0.1309 None gnomAD-4.0.0 6.84246E-07
34039 227 F/L None rs1178807411 0.1009 None gnomAD-2.1.1 4.02E-06
34039 227 F/L None rs1178807411 0.1009 None gnomAD-4.0.0 1.59145E-06
34039 227 F/S None rs1553496582 0.1009 None gnomAD-3.1.2 6.57E-06
34039 227 F/S None rs1553496582 0.1009 None gnomAD-4.0.0 1.36337E-05
34041 229 E/G None rs1255397275 0.5201 None gnomAD-2.1.1 4.02E-06
34041 229 E/G None rs1255397275 0.5201 None gnomAD-4.0.0 4.10553E-06
34041 229 E/K None rs377600383 0.5201 None gnomAD-2.1.1 1.178E-04
34041 229 E/K None rs377600383 0.5201 None gnomAD-3.1.2 1.37951E-04
34041 229 E/K None rs377600383 0.5201 None gnomAD-4.0.0 7.49853E-05
34042 230 I/L None rs745822255 0.1586 None gnomAD-2.1.1 1.21E-05
34042 230 I/L None rs745822255 0.1586 None gnomAD-4.0.0 7.52681E-06
34042 230 I/T None rs373173599 0.1586 None gnomAD-2.1.1 7.14E-06
34042 230 I/T None rs373173599 0.1586 None gnomAD-3.1.2 2.63E-05
34042 230 I/T None rs373173599 0.1586 None gnomAD-4.0.0 8.05622E-06
34043 231 S/G None None 0.1804 None gnomAD-4.0.0 4.10558E-06
34044 232 I/L None rs1690568887 0.8291 None gnomAD-4.0.0 6.8427E-06
34044 232 I/S None None 0.8291 None gnomAD-4.0.0 6.84277E-07
34044 232 I/T None rs1349271119 0.8291 None gnomAD-4.0.0 1.36855E-06
34044 232 I/V None rs1690568887 0.8291 None gnomAD-3.1.2 6.57E-06
34044 232 I/V None rs1690568887 0.8291 None gnomAD-4.0.0 4.33795E-06
34045 233 E/D None None 0.2898 None gnomAD-4.0.0 1.59171E-06
34046 234 A/S None None 0.0588 None gnomAD-4.0.0 1.59178E-06
34046 234 A/V None None 0.0588 None gnomAD-4.0.0 1.20032E-06
34047 235 M/I None None 0.1144 None gnomAD-4.0.0 1.5919E-06
34047 235 M/R None rs745563787 0.1144 None gnomAD-2.1.1 4.02E-06
34047 235 M/R None rs745563787 0.1144 None gnomAD-4.0.0 1.59183E-06
34047 235 M/T None rs745563787 0.1144 None gnomAD-2.1.1 4.02E-06
34047 235 M/T None rs745563787 0.1144 None gnomAD-4.0.0 1.59183E-06
34047 235 M/V None rs755244797 0.1144 None gnomAD-2.1.1 8.04E-06
34047 235 M/V None rs755244797 0.1144 None gnomAD-4.0.0 9.55079E-06
34048 236 D/G None None 0.3019 None gnomAD-4.0.0 6.84318E-07
34048 236 D/N None rs778467259 0.3019 None gnomAD-2.1.1 8.04E-06
34048 236 D/N None rs778467259 0.3019 None gnomAD-4.0.0 3.18391E-06
34048 236 D/Y None rs778467259 0.3019 None gnomAD-2.1.1 3.18E-05
34048 236 D/Y None rs778467259 0.3019 None gnomAD-3.1.2 6.57E-06
34048 236 D/Y None rs778467259 0.3019 None gnomAD-4.0.0 6.56918E-06
34050 238 V/I None rs1575280335 0.0876 None gnomAD-4.0.0 7.52809E-06
34051 239 D/E None None 0.5260 None gnomAD-4.0.0 6.84435E-07
34051 239 D/Y None None 0.5260 None gnomAD-4.0.0 1.59237E-06
34052 240 R/G None rs756924372 0.4473 None gnomAD-2.1.1 4.02E-06
34052 240 R/G None rs756924372 0.4473 None gnomAD-4.0.0 1.36891E-06
34052 240 R/Q None rs369245991 0.4473 None gnomAD-2.1.1 3.62E-05
34052 240 R/Q None rs369245991 0.4473 None gnomAD-3.1.2 1.97E-05
34052 240 R/Q None rs369245991 0.4473 None gnomAD-4.0.0 3.90516E-05
34052 240 R/W None rs756924372 0.4473 None gnomAD-4.0.0 4.10673E-06
34055 243 V/A None rs752582515 0.1614 None gnomAD-2.1.1 1.40936E-04
34055 243 V/A None rs752582515 0.1614 None gnomAD-3.1.2 6.57E-06
34055 243 V/A None rs752582515 0.1614 None gnomAD-4.0.0 2.78988E-05
34055 243 V/L None None 0.1614 None gnomAD-4.0.0 1.5929E-06
34057 245 E/A None rs1418716706 0.1873 None gnomAD-2.1.1 4.03E-06
34057 245 E/A None rs1418716706 0.1873 None gnomAD-4.0.0 1.59332E-06
34057 245 E/D None rs767376871 0.1873 None gnomAD-2.1.1 4.03E-06
34057 245 E/D None rs767376871 0.1873 None gnomAD-3.1.2 6.57E-06
34057 245 E/D None rs767376871 0.1873 None gnomAD-4.0.0 6.57004E-06
34057 245 E/K None rs1173824558 0.1873 None gnomAD-2.1.1 4.03E-06
34057 245 E/K None rs1173824558 0.1873 None gnomAD-4.0.0 1.59339E-06
34058 246 R/K None rs886039007 0.1559 None gnomAD-2.1.1 3.18E-05
34058 246 R/K None rs886039007 0.1559 None gnomAD-3.1.2 4.6E-05
34058 246 R/K None rs886039007 0.1559 None gnomAD-4.0.0 8.06061E-06
34059 247 K/R None rs1690541706 0.2283 None gnomAD-4.0.0 6.84671E-07
34060 248 S/P None rs373945220 0.3333 None gnomAD-2.1.1 4.03E-06
34060 248 S/P None rs373945220 0.3333 None gnomAD-3.1.2 6.57E-06
34061 249 R/C None rs879220772 0.0915 None gnomAD-3.1.2 2.63E-05
34061 249 R/C None rs879220772 0.0915 None gnomAD-4.0.0 8.98247E-06
34061 249 R/H None rs774174825 0.0915 None gnomAD-2.1.1 8.07E-06
34061 249 R/H None rs774174825 0.0915 None gnomAD-4.0.0 1.02726E-05
34061 249 R/L None None 0.0915 None gnomAD-4.0.0 6.84839E-07
34062 250 M/K None None 0.1154 None gnomAD-4.0.0 6.84852E-07
34062 250 M/L None None 0.1154 None gnomAD-4.0.0 1.59473E-06
34062 250 M/R None rs1690534459 0.1154 None gnomAD-4.0.0 4.10911E-06
34062 250 M/T None rs1690534459 0.1154 None gnomAD-4.0.0 6.84852E-07
34063 251 T/I None None 0.2916 None gnomAD-4.0.0 1.59526E-06
34064 252 A/T None rs200237973 0.1019 None gnomAD-2.1.1 1.72057E-04
34064 252 A/T None rs200237973 0.1019 None gnomAD-3.1.2 2.69343E-04
34064 252 A/T None rs200237973 0.1019 None gnomAD-4.0.0 3.65373E-04
34064 252 A/V None rs149921607 0.1019 None gnomAD-2.1.1 6.37E-05
34064 252 A/V None rs149921607 0.1019 None gnomAD-3.1.2 4.6E-05
34064 252 A/V None rs149921607 0.1019 None 1000 genomes 1.99681E-04
34064 252 A/V None rs149921607 0.1019 None gnomAD-4.0.0 6.82341E-06
34065 253 S/L None rs769936820 0.3485 None gnomAD-2.1.1 4.04E-06
34065 253 S/L None rs769936820 0.3485 None gnomAD-3.1.2 6.57E-06
34065 253 S/L None rs769936820 0.3485 None gnomAD-4.0.0 7.70537E-06
34065 253 S/P None rs1690528772 0.3485 None gnomAD-4.0.0 1.37007E-06
34066 254 E/A None None 0.3385 None gnomAD-4.0.0 1.20032E-06
34067 255 A/D None None 0.0719 None gnomAD-4.0.0 2.74112E-06
34067 255 A/G None rs769172246 0.0719 None gnomAD-4.0.0 6.85278E-07
34067 255 A/P None rs776959962 0.0719 None gnomAD-4.0.0 1.59688E-06
34067 255 A/T None rs776959962 0.0719 None gnomAD-2.1.1 4.05E-06
34067 255 A/T None rs776959962 0.0719 None gnomAD-4.0.0 1.59688E-06
34068 256 L/R None rs747379775 0.1722 None gnomAD-2.1.1 4.05E-06
34068 256 L/R None rs747379775 0.1722 None gnomAD-4.0.0 1.59707E-06
34069 257 Q/R None rs780466011 0.3962 None gnomAD-2.1.1 8.1E-06
34069 257 Q/R None rs780466011 0.3962 None gnomAD-4.0.0 2.05596E-06
34070 258 H/Q None None 0.1113 None gnomAD-4.0.0 6.8546E-07
34072 260 W/R None rs375159973 0.1149 None gnomAD-2.1.1 8.11E-06
34072 260 W/R None rs375159973 0.1149 None gnomAD-3.1.2 1.97E-05
34072 260 W/R None rs375159973 0.1149 CM
MmD-HD
Literature None
34072 260 W/R None rs375159973 0.1149 None gnomAD-4.0.0 2.17264E-05
34074 262 K/N None rs748885900 0.4322 None gnomAD-2.1.1 4.06E-06
34074 262 K/N None rs748885900 0.4322 None gnomAD-3.1.2 6.57E-06
34074 262 K/N None rs748885900 0.4322 None gnomAD-4.0.0 2.57237E-06
34074 262 K/R None None 0.4322 None gnomAD-4.0.0 6.8564E-07
34075 263 Q/E None rs777288641 0.2766 None gnomAD-2.1.1 4.07E-06
34077 265 I/M None None 0.2238 None gnomAD-4.0.0 6.85709E-07
34077 265 I/T None rs1290306844 0.2238 None gnomAD-2.1.1 4.07E-06
34077 265 I/T None rs1290306844 0.2238 None gnomAD-4.0.0 2.05707E-06
34078 266 E/D None rs1043486033 0.5901 None gnomAD-2.1.1 4.07E-06
34078 266 E/D None rs1043486033 0.5901 None gnomAD-4.0.0 1.37137E-06
34078 266 E/K None rs1454101167 0.5901 None gnomAD-2.1.1 4.07E-06
34078 266 E/K None rs1454101167 0.5901 None gnomAD-4.0.0 1.59958E-06
34078 266 E/Q None rs1454101167 0.5901 None gnomAD-3.1.2 6.57E-06
34078 266 E/Q None rs1454101167 0.5901 None gnomAD-4.0.0 6.57039E-06
34079 267 R/K None rs755581166 0.7571 None gnomAD-2.1.1 8.13E-06
34079 267 R/K None rs755581166 0.7571 None gnomAD-4.0.0 2.05707E-06
34080 268 V/D None None 0.1350 None gnomAD-4.0.0 2.40065E-06
34080 268 V/L None rs1467698015 0.1350 None gnomAD-2.1.1 1.44E-05
34080 268 V/L None rs1467698015 0.1350 None gnomAD-3.1.2 1.97E-05
34080 268 V/L None rs1467698015 0.1350 None gnomAD-4.0.0 7.71686E-06
34081 269 S/G None rs752173730 0.2996 None gnomAD-2.1.1 8.13E-06
34081 269 S/G None rs752173730 0.2996 None gnomAD-4.0.0 1.59871E-06
34081 269 S/N None None 0.2996 None gnomAD-4.0.0 6.85606E-07
34082 270 T/I None None 0.5623 None gnomAD-4.0.0 1.37101E-06
34082 270 T/N None rs1375940766 0.5623 None gnomAD-2.1.1 3.19E-05
34082 270 T/N None rs1375940766 0.5623 None gnomAD-3.1.2 6.57E-06
34082 270 T/N None rs1375940766 0.5623 None gnomAD-4.0.0 2.48303E-06
34083 271 K/R None None 0.5072 None gnomAD-4.0.0 1.20032E-06
34084 272 V/A None None 0.3084 None gnomAD-4.0.0 1.59754E-06
34084 272 V/I None rs767405843 0.3084 None gnomAD-2.1.1 4.06E-06
34084 272 V/I None rs767405843 0.3084 None gnomAD-4.0.0 3.195E-06
34085 273 I/M None rs1188731609 0.1434 None gnomAD-2.1.1 4.06E-06
34085 273 I/M None rs1188731609 0.1434 None gnomAD-4.0.0 6.85299E-07
34085 273 I/T None None 0.1434 None gnomAD-4.0.0 1.20032E-06
34086 274 R/I None None 0.6390 None gnomAD-4.0.0 6.85191E-07
34086 274 R/K None None 0.6390 None gnomAD-4.0.0 6.85191E-07
34086 274 R/T None rs569650065 0.6390 None gnomAD-2.1.1 1.22E-05
34086 274 R/T None rs569650065 0.6390 None gnomAD-3.1.2 3.29E-05
34086 274 R/T None rs569650065 0.6390 None 1000 genomes 1.99681E-04
34086 274 R/T None rs569650065 0.6390 None gnomAD-4.0.0 4.96362E-06
34087 275 T/A None None 0.1861 None gnomAD-4.0.0 1.59652E-06
34087 275 T/I None None 0.1861 None gnomAD-4.0.0 6.85123E-07
34087 275 T/K None None 0.1861 None gnomAD-4.0.0 6.85123E-07
34090 278 H/Q None None 0.0994 None gnomAD-4.0.0 1.20032E-06
34090 278 H/Y None None 0.0994 None gnomAD-4.0.0 6.84947E-07
34091 279 R/Q None rs763708375 0.3099 None gnomAD-2.1.1 3.23E-05
34091 279 R/Q None rs763708375 0.3099 None gnomAD-3.1.2 3.94E-05
34091 279 R/Q None rs763708375 0.3099 None gnomAD-4.0.0 7.07026E-05
34091 279 R/W None rs140319117 0.3099 None gnomAD-2.1.1 1.01552E-03
34091 279 R/W None rs140319117 0.3099 None gnomAD-3.1.2 9.7976E-04
34091 279 R/W None rs140319117 0.3099 None 1000 genomes 7.98722E-04
34091 279 R/W None rs140319117 0.3099 HMERF
Literature None
34091 279 R/W None rs140319117 0.3099 None gnomAD-4.0.0 1.37625E-03
34092 280 R/C None rs765435004 0.6003 None gnomAD-2.1.1 2.02E-05
34092 280 R/C None rs765435004 0.6003 None gnomAD-3.1.2 6.57E-06
34092 280 R/C None rs765435004 0.6003 None gnomAD-4.0.0 6.82188E-06
34092 280 R/H None rs757918924 0.6003 None gnomAD-2.1.1 5.66E-05
34092 280 R/H None rs757918924 0.6003 None gnomAD-3.1.2 3.94E-05
34092 280 R/H None rs757918924 0.6003 None gnomAD-4.0.0 9.36361E-05
34094 282 Y/H None None 0.1076 None gnomAD-4.0.0 1.59316E-06
34094 282 Y/S None rs1414440071 0.1076 None gnomAD-2.1.1 3.19E-05
34094 282 Y/S None rs1414440071 0.1076 None gnomAD-3.1.2 6.57E-06
34094 282 Y/S None rs1414440071 0.1076 None gnomAD-4.0.0 1.30194E-05
34095 283 H/P None rs1437743604 0.8022 None gnomAD-3.1.2 1.97E-05
34095 283 H/P None rs1437743604 0.8022 None gnomAD-4.0.0 5.12826E-06
34096 284 T/I None rs375002174 0.4911 None gnomAD-2.1.1 8.07E-06
34096 284 T/I None rs375002174 0.4911 None gnomAD-3.1.2 6.57E-06
34096 284 T/I None rs375002174 0.4911 None gnomAD-4.0.0 6.19917E-06
34096 284 T/N None rs375002174 0.4911 None gnomAD-2.1.1 5.24E-05
34096 284 T/N None rs375002174 0.4911 None gnomAD-3.1.2 5.26E-05
34096 284 T/N None rs375002174 0.4911 None gnomAD-4.0.0 3.84349E-05
34097 285 L/M None rs775734528 0.1676 None gnomAD-2.1.1 4.03E-06
34097 285 L/M None rs775734528 0.1676 None gnomAD-4.0.0 1.59257E-06
34097 285 L/P None rs1324222809 0.1676 None gnomAD-2.1.1 8.06E-06
34097 285 L/P None rs1324222809 0.1676 None gnomAD-4.0.0 3.42212E-06
34097 285 L/Q None None 0.1676 None gnomAD-4.0.0 6.84423E-07
34097 285 L/R None None 0.1676 None gnomAD-4.0.0 1.36885E-06
34098 286 I/F None None 0.1652 None gnomAD-4.0.0 1.59223E-06
34098 286 I/T None rs1480810435 0.1652 None gnomAD-3.1.2 6.57E-06
34098 286 I/T None rs1480810435 0.1652 None gnomAD-4.0.0 6.57289E-06
34099 287 K/N None rs772381654 0.5559 None gnomAD-2.1.1 4.03E-06
34099 287 K/N None rs772381654 0.5559 None gnomAD-4.0.0 1.592E-06
34099 287 K/R None None 0.5559 None gnomAD-4.0.0 1.3687E-06
34101 289 D/N None None 0.7958 None gnomAD-4.0.0 1.5918E-06
34102 290 L/R None rs748971754 0.5050 None gnomAD-2.1.1 2.82E-05
34102 290 L/R None rs748971754 0.5050 None gnomAD-3.1.2 6.57E-06
34102 290 L/R None rs748971754 0.5050 None gnomAD-4.0.0 6.40649E-06
34103 291 N/D None None 0.8180 None gnomAD-4.0.0 6.84271E-07
34103 291 N/H None None 0.8180 None gnomAD-4.0.0 1.36854E-06
34103 291 N/I None rs557630306 0.8180 None gnomAD-2.1.1 2.86E-05
34103 291 N/I None rs557630306 0.8180 None gnomAD-3.1.2 2.63E-05
34103 291 N/I None rs557630306 0.8180 None 1000 genomes 1.99681E-04
34103 291 N/I None rs557630306 0.8180 None gnomAD-4.0.0 5.57726E-06
34103 291 N/S None rs557630306 0.8180 None gnomAD-2.1.1 4.02E-06
34103 291 N/S None rs557630306 0.8180 None gnomAD-3.1.2 6.57E-06
34103 291 N/S None rs557630306 0.8180 None gnomAD-4.0.0 1.23939E-06
34104 292 M/I None None 0.1810 None gnomAD-4.0.0 2.73697E-06
34104 292 M/R None rs769416699 0.1810 None gnomAD-2.1.1 4.02E-06
34104 292 M/R None rs769416699 0.1810 None gnomAD-4.0.0 6.84235E-07
34104 292 M/T None rs769416699 0.1810 None gnomAD-4.0.0 6.84235E-07
34104 292 M/V None rs1559035751 0.1810 None gnomAD-2.1.1 4.02E-06
34104 292 M/V None rs1559035751 0.1810 None gnomAD-4.0.0 2.05274E-06
34105 293 V/D None rs747672013 0.3061 None gnomAD-2.1.1 4.02E-06
34105 293 V/D None rs747672013 0.3061 None gnomAD-4.0.0 1.59135E-06
34106 294 V/M None rs780748204 0.1289 None gnomAD-2.1.1 4.02E-06
34108 296 A/P None None 0.1217 None gnomAD-4.0.0 1.36845E-06
34108 296 A/T None None 0.1217 None gnomAD-4.0.0 1.36845E-06
34108 296 A/V None None 0.1217 None gnomAD-4.0.0 6.84224E-07
34109 297 A/T None rs786205293 0.0662 None gnomAD-2.1.1 8.04E-06
34109 297 A/T None rs786205293 0.0662 None gnomAD-4.0.0 4.10524E-06
34109 297 A/V None rs1475114423 0.0662 None gnomAD-2.1.1 4.02E-06
34109 297 A/V None rs1475114423 0.0662 None gnomAD-4.0.0 3.18251E-06
34110 298 R/Q None rs565347600 0.1372 None gnomAD-2.1.1 3.22E-05
34110 298 R/Q None rs565347600 0.1372 None gnomAD-3.1.2 1.97E-05
34110 298 R/Q None rs565347600 0.1372 None 1000 genomes 1.99681E-04
34110 298 R/Q None rs565347600 0.1372 None gnomAD-4.0.0 1.61106E-05
34110 298 R/W None rs754873937 0.1372 None gnomAD-2.1.1 4.29E-05
34110 298 R/W None rs754873937 0.1372 None gnomAD-3.1.2 5.26E-05
34110 298 R/W None rs754873937 0.1372 None gnomAD-4.0.0 1.48729E-05
34112 300 S/A None rs889518198 0.0849 None gnomAD-3.1.2 6.57E-06
34112 300 S/A None rs889518198 0.0849 None gnomAD-4.0.0 1.23931E-06
34112 300 S/F None rs1252666695 0.0849 None gnomAD-2.1.1 4.02E-06
34112 300 S/F None rs1252666695 0.0849 None gnomAD-4.0.0 1.59114E-06
34112 300 S/P None None 0.0849 None gnomAD-4.0.0 6.84182E-07
34113 301 C/W None rs794729561 0.3621 None gnomAD-4.0.0 1.59107E-06
34113 301 C/Y None None 0.3621 None gnomAD-4.0.0 1.20032E-06
34115 303 G/R None None 0.1556 None gnomAD-4.0.0 1.59105E-06
34116 304 A/T None None 0.2177 None gnomAD-4.0.0 1.36834E-06
34116 304 A/V None rs1690458726 0.2177 None gnomAD-3.1.2 6.57E-06
34116 304 A/V None rs1690458726 0.2177 None gnomAD-4.0.0 6.57168E-06
34117 305 I/V None None 0.2145 None gnomAD-4.0.0 1.59103E-06
34118 306 R/Q None rs551905996 0.1750 None gnomAD-2.1.1 4.64E-05
34118 306 R/Q None rs551905996 0.1750 None gnomAD-3.1.2 9.86E-05
34118 306 R/Q None rs551905996 0.1750 None 1000 genomes 1.99681E-04
34118 306 R/Q None rs551905996 0.1750 None gnomAD-4.0.0 3.77956E-05
34119 307 S/F None None 0.2676 None gnomAD-4.0.0 3.60097E-06
34119 307 S/P None rs1690455117 0.2676 None gnomAD-4.0.0 1.59101E-06
34120 308 Q/P None None 0.6541 None gnomAD-4.0.0 1.20046E-06
34122 310 G/A None None 0.5653 None gnomAD-4.0.0 1.59098E-06
34122 310 G/R None rs1195753595 0.5653 None gnomAD-2.1.1 4.02E-06
34122 310 G/R None rs1195753595 0.5653 None gnomAD-4.0.0 1.591E-06
34123 311 V/A None rs1060500587 0.1854 None gnomAD-2.1.1 4.02E-06
34123 311 V/A None rs1060500587 0.1854 None gnomAD-4.0.0 1.59097E-06
34123 311 V/G None rs1060500587 0.1854 None gnomAD-3.1.2 1.32E-05
34123 311 V/G None rs1060500587 0.1854 None gnomAD-4.0.0 3.84472E-06
34123 311 V/M None rs1690450339 0.1854 None gnomAD-3.1.2 6.57E-06
34123 311 V/M None rs1690450339 0.1854 None gnomAD-4.0.0 2.02973E-06
34124 312 S/N None rs1271436308 0.2398 None gnomAD-2.1.1 7.13E-06
34124 312 S/N None rs1271436308 0.2398 None gnomAD-3.1.2 6.57E-06
34124 312 S/N None rs1271436308 0.2398 None gnomAD-4.0.0 6.19627E-06
34125 313 V/A None rs762110611 0.3821 None gnomAD-2.1.1 4.02E-06
34125 313 V/A None rs762110611 0.3821 None gnomAD-3.1.2 6.57E-06
34125 313 V/A None rs762110611 0.3821 None gnomAD-4.0.0 6.40403E-06
34125 313 V/I None rs765603620 0.3821 None gnomAD-2.1.1 1.2E-05
34125 313 V/I None rs765603620 0.3821 None gnomAD-4.0.0 2.73662E-06
34125 313 V/L None rs765603620 0.3821 None gnomAD-2.1.1 4.02E-06
34125 313 V/L None rs765603620 0.3821 None gnomAD-4.0.0 4.10493E-06
34126 314 A/V None rs1280930563 0.1149 None gnomAD-3.1.2 6.57E-06
34126 314 A/V None rs1280930563 0.1149 None gnomAD-4.0.0 6.4049E-06
34127 315 K/E None rs1327804969 0.1451 None gnomAD-3.1.2 1.31E-05
34127 315 K/E None rs1327804969 0.1451 None gnomAD-4.0.0 3.04471E-06
34128 316 V/G None None 0.0788 None gnomAD-4.0.0 2.05247E-06
34128 316 V/L None rs753871187 0.0788 None gnomAD-2.1.1 1.61E-05
34128 316 V/L None rs753871187 0.0788 None gnomAD-4.0.0 1.43188E-05
34130 318 V/G None None 0.0851 None gnomAD-4.0.0 1.591E-06
34131 319 A/T None None 0.1434 None gnomAD-4.0.0 2.40064E-06
34132 320 S/F None None 0.4090 None gnomAD-4.0.0 1.20032E-06
34132 320 S/P None rs876658098 0.4090 None gnomAD-2.1.1 3.18E-05
34132 320 S/P None rs876658098 0.4090 None gnomAD-3.1.2 6.57E-06
34132 320 S/P None rs876658098 0.4090 None gnomAD-4.0.0 6.57082E-06
34132 320 S/T None rs876658098 0.4090 None gnomAD-2.1.1 4.01E-06
34132 320 S/T None rs876658098 0.4090 None gnomAD-4.0.0 2.05246E-06
34133 321 I/L None rs1328046092 0.6590 None gnomAD-2.1.1 4.02E-06
34133 321 I/L None rs1328046092 0.6590 None gnomAD-3.1.2 6.57E-06
34133 321 I/L None rs1328046092 0.6590 None gnomAD-4.0.0 2.47856E-06
34133 321 I/T None rs764179161 0.6590 None gnomAD-2.1.1 3.92E-05
34133 321 I/T None rs764179161 0.6590 None gnomAD-3.1.2 5.26E-05
34133 321 I/T None rs764179161 0.6590 None gnomAD-4.0.0 4.2136E-05
34133 321 I/V None None 0.6590 None gnomAD-4.0.0 6.84155E-07
34134 322 E/D None None 0.5717 None gnomAD-4.0.0 1.59096E-06
34134 322 E/K None rs1690433095 0.5717 None gnomAD-3.1.2 6.57E-06
34134 322 E/K None rs1690433095 0.5717 None gnomAD-4.0.0 5.12333E-06
34135 323 I/T None rs917268577 0.5019 None gnomAD-4.0.0 2.7366E-06