Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.17181898_17181906delCA512864423ADA2c.639_647del (p.Asp213_Tyr215del)
c.1236_1244del (p.Asp412_Tyr414del)
n.1250_1258del
c.1362_1370del (p.Asp454_Tyr456del)
c.1002_1010del (p.Asp334_Tyr336del)
c.*338_*346del (n.*338_*346del)
c.*2484_*2492del (n.*2484_*2492del)
n.474_482del
c.588_596del (p.Asp196_Tyr198del)
c.609_617del (p.Asp203_Tyr205del)
c.756_764del (p.Asp252_Tyr254del)
n.800_808del
c.2875_2883del
c.678_686del (p.Asp226_Tyr228del)
 ClinVar dbSNP gnomAD v4
22g.17181902_17181904delCA10087890ADA2c.637_639del (p.Asp213del)
c.1234_1236del (p.Asp412del)
n.1248_1250del
c.1360_1362del (p.Asp454del)
c.1000_1002del (p.Asp334del)
c.*336_*338del (n.*336_*338del)
c.*2482_*2484del (n.*2482_*2484del)
n.472_474del
c.586_588del (p.Asp196del)
c.607_609del (p.Asp203del)
c.754_756del (p.Asp252del)
n.798_800del
c.2873_2875del
c.676_678del (p.Asp226del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.17181904T>ACA410231790ADA2c.635A>T (p.Tyr212Phe)
c.1232A>T (p.Tyr411Phe)
n.1246A>T
c.1358A>T (p.Tyr453Phe)
c.998A>T (p.Tyr333Phe)
c.*334A>T (n.*334A>T)
c.*2480A>T (n.*2480A>T)
n.470A>T
c.584A>T (p.Tyr195Phe)
c.605A>T (p.Tyr202Phe)
c.752A>T (p.Tyr251Phe)
n.796A>T
c.2871A>T
c.674A>T (p.Tyr225Phe)
22g.17181904T>CCA150799ADA2c.635A>G (p.Tyr212Cys)
c.1232A>G (p.Tyr411Cys)
n.1246A>G
c.1358A>G (p.Tyr453Cys)
c.998A>G (p.Tyr333Cys)
c.*334A>G (n.*334A>G)
c.*2480A>G (n.*2480A>G)
n.470A>G
c.584A>G (p.Tyr195Cys)
c.605A>G (p.Tyr202Cys)
c.752A>G (p.Tyr251Cys)
n.796A>G
c.2871A>G
c.674A>G (p.Tyr225Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.17181904T>GCA410231791ADA2c.635A>C (p.Tyr212Ser)
c.1232A>C (p.Tyr411Ser)
n.1246A>C
c.1358A>C (p.Tyr453Ser)
c.998A>C (p.Tyr333Ser)
c.*334A>C (n.*334A>C)
c.*2480A>C (n.*2480A>C)
n.470A>C
c.584A>C (p.Tyr195Ser)
c.605A>C (p.Tyr202Ser)
c.752A>C (p.Tyr251Ser)
n.796A>C
c.2871A>C
c.674A>C (p.Tyr225Ser)
22g.17181904T=CA2394964047ADA2c.635A= (p.Tyr212=)
c.1232A= (p.Tyr411=)
n.1246A=
c.1358A= (p.Tyr453=)
c.998A= (p.Tyr333=)
c.*334A= (n.*334A=)
c.*2480A= (n.*2480A=)
n.470A=
c.584A= (p.Tyr195=)
c.605A= (p.Tyr202=)
c.752A= (p.Tyr251=)
n.796A=
c.2871A=
c.674A= (p.Tyr225=)
22g.17181905A=CA2394964048ADA2c.634T= (p.Tyr212=)
c.1231T= (p.Tyr411=)
n.1245T=
c.1357T= (p.Tyr453=)
c.997T= (p.Tyr333=)
c.*333T= (n.*333T=)
c.*2479T= (n.*2479T=)
n.469T=
c.583T= (p.Tyr195=)
c.604T= (p.Tyr202=)
c.751T= (p.Tyr251=)
n.795T=
c.2870T=
c.673T= (p.Tyr225=)
22g.17181905A>CCA410231792ADA2c.634T>G (p.Tyr212Asp)
c.1231T>G (p.Tyr411Asp)
n.1245T>G
c.1357T>G (p.Tyr453Asp)
c.997T>G (p.Tyr333Asp)
c.*333T>G (n.*333T>G)
c.*2479T>G (n.*2479T>G)
n.469T>G
c.583T>G (p.Tyr195Asp)
c.604T>G (p.Tyr202Asp)
c.751T>G (p.Tyr251Asp)
n.795T>G
c.2870T>G
c.673T>G (p.Tyr225Asp)
22g.17181905A>GCA410231793ADA2c.634T>C (p.Tyr212His)
c.1231T>C (p.Tyr411His)
n.1245T>C
c.1357T>C (p.Tyr453His)
c.997T>C (p.Tyr333His)
c.*333T>C (n.*333T>C)
c.*2479T>C (n.*2479T>C)
n.469T>C
c.583T>C (p.Tyr195His)
c.604T>C (p.Tyr202His)
c.751T>C (p.Tyr251His)
n.795T>C
c.2870T>C
c.673T>C (p.Tyr225His)
 dbSNP gnomAD v4
22g.17181905A>TCA410231794ADA2c.634T>A (p.Tyr212Asn)
c.1231T>A (p.Tyr411Asn)
n.1245T>A
c.1357T>A (p.Tyr453Asn)
c.997T>A (p.Tyr333Asn)
c.*333T>A (n.*333T>A)
c.*2479T>A (n.*2479T>A)
n.469T>A
c.583T>A (p.Tyr195Asn)
c.604T>A (p.Tyr202Asn)
c.751T>A (p.Tyr251Asn)
n.795T>A
c.2870T>A
c.673T>A (p.Tyr225Asn)
22g.17181906G>ACA512864472ADA2c.633C>T (p.Ser211=)
c.1230C>T (p.Ser410=)
n.1244C>T
c.1356C>T (p.Ser452=)
c.996C>T (p.Ser332=)
c.*332C>T (n.*332C>T)
c.*2478C>T (n.*2478C>T)
n.468C>T
c.582C>T (p.Ser194=)
c.603C>T (p.Ser201=)
c.750C>T (p.Ser250=)
n.794C>T
c.2869C>T
c.672C>T (p.Ser224=)
22g.17181906G>CCA512864470ADA2c.633C>G (p.Ser211=)
c.1230C>G (p.Ser410=)
n.1244C>G
c.1356C>G (p.Ser452=)
c.996C>G (p.Ser332=)
c.*332C>G (n.*332C>G)
c.*2478C>G (n.*2478C>G)
n.468C>G
c.582C>G (p.Ser194=)
c.603C>G (p.Ser201=)
c.750C>G (p.Ser250=)
n.794C>G
c.2869C>G
c.672C>G (p.Ser224=)
22g.17181906G>TCA512864469ADA2c.633C>A (p.Ser211=)
c.1230C>A (p.Ser410=)
n.1244C>A
c.1356C>A (p.Ser452=)
c.996C>A (p.Ser332=)
c.*332C>A (n.*332C>A)
c.*2478C>A (n.*2478C>A)
n.468C>A
c.582C>A (p.Ser194=)
c.603C>A (p.Ser201=)
c.750C>A (p.Ser250=)
n.794C>A
c.2869C>A
c.672C>A (p.Ser224=)
22g.17181907G>ACA410231795ADA2c.632C>T (p.Ser211Phe)
c.1229C>T (p.Ser410Phe)
n.1243C>T
c.1355C>T (p.Ser452Phe)
c.995C>T (p.Ser332Phe)
c.*331C>T (n.*331C>T)
c.*2477C>T (n.*2477C>T)
n.467C>T
c.581C>T (p.Ser194Phe)
c.602C>T (p.Ser201Phe)
c.749C>T (p.Ser250Phe)
n.793C>T
c.2868C>T
c.671C>T (p.Ser224Phe)
22g.17181907G>CCA10087892ADA2c.632C>G (p.Ser211Cys)
c.1229C>G (p.Ser410Cys)
n.1243C>G
c.1355C>G (p.Ser452Cys)
c.995C>G (p.Ser332Cys)
c.*331C>G (n.*331C>G)
c.*2477C>G (n.*2477C>G)
n.467C>G
c.581C>G (p.Ser194Cys)
c.602C>G (p.Ser201Cys)
c.749C>G (p.Ser250Cys)
n.793C>G
c.2868C>G
c.671C>G (p.Ser224Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.17181907G=CA2394964049ADA2c.632C= (p.Ser211=)
c.1229C= (p.Ser410=)
n.1243C=
c.1355C= (p.Ser452=)
c.995C= (p.Ser332=)
c.*331C= (n.*331C=)
c.*2477C= (n.*2477C=)
n.467C=
c.581C= (p.Ser194=)
c.602C= (p.Ser201=)
c.749C= (p.Ser250=)
n.793C=
c.2868C=
c.671C= (p.Ser224=)
22g.17181907G>TCA410231796ADA2c.632C>A (p.Ser211Tyr)
c.1229C>A (p.Ser410Tyr)
n.1243C>A
c.1355C>A (p.Ser452Tyr)
c.995C>A (p.Ser332Tyr)
c.*331C>A (n.*331C>A)
c.*2477C>A (n.*2477C>A)
n.467C>A
c.581C>A (p.Ser194Tyr)
c.602C>A (p.Ser201Tyr)
c.749C>A (p.Ser250Tyr)
n.793C>A
c.2868C>A
c.671C>A (p.Ser224Tyr)
22g.17181908A>CCA410231797ADA2c.631T>G (p.Ser211Ala)
c.1228T>G (p.Ser410Ala)
n.1242T>G
c.1354T>G (p.Ser452Ala)
c.994T>G (p.Ser332Ala)
c.*330T>G (n.*330T>G)
c.*2476T>G (n.*2476T>G)
n.466T>G
c.580T>G (p.Ser194Ala)
c.601T>G (p.Ser201Ala)
c.748T>G (p.Ser250Ala)
n.792T>G
c.2867T>G
c.670T>G (p.Ser224Ala)
22g.17181908A>GCA410231798ADA2c.631T>C (p.Ser211Pro)
c.1228T>C (p.Ser410Pro)
n.1242T>C
c.1354T>C (p.Ser452Pro)
c.994T>C (p.Ser332Pro)
c.*330T>C (n.*330T>C)
c.*2476T>C (n.*2476T>C)
n.466T>C
c.580T>C (p.Ser194Pro)
c.601T>C (p.Ser201Pro)
c.748T>C (p.Ser250Pro)
n.792T>C
c.2867T>C
c.670T>C (p.Ser224Pro)
 ClinVar dbSNP
22g.17181908A>TCA410231799ADA2c.631T>A (p.Ser211Thr)
c.1228T>A (p.Ser410Thr)
n.1242T>A
c.1354T>A (p.Ser452Thr)
c.994T>A (p.Ser332Thr)
c.*330T>A (n.*330T>A)
c.*2476T>A (n.*2476T>A)
n.466T>A
c.580T>A (p.Ser194Thr)
c.601T>A (p.Ser201Thr)
c.748T>A (p.Ser250Thr)
n.792T>A
c.2867T>A
c.670T>A (p.Ser224Thr)
22g.17181909C>ACA410231800ADA2c.630G>T (p.Leu210Phe)
c.1227G>T (p.Leu409Phe)
n.1241G>T
c.1353G>T (p.Leu451Phe)
c.993G>T (p.Leu331Phe)
c.*329G>T (n.*329G>T)
c.*2475G>T (n.*2475G>T)
n.465G>T
c.579G>T (p.Leu193Phe)
c.600G>T (p.Leu200Phe)
c.747G>T (p.Leu249Phe)
n.791G>T
c.2866G>T
c.669G>T (p.Leu223Phe)
 ClinVar dbSNP
22g.17181909C=CA2394964050ADA2c.630G= (p.Leu210=)
c.1227G= (p.Leu409=)
n.1241G=
c.1353G= (p.Leu451=)
c.993G= (p.Leu331=)
c.*329G= (n.*329G=)
c.*2475G= (n.*2475G=)
n.465G=
c.579G= (p.Leu193=)
c.600G= (p.Leu200=)
c.747G= (p.Leu249=)
n.791G=
c.2866G=
c.669G= (p.Leu223=)
22g.17181909C>GCA410231801ADA2c.630G>C (p.Leu210Phe)
c.1227G>C (p.Leu409Phe)
n.1241G>C
c.1353G>C (p.Leu451Phe)
c.993G>C (p.Leu331Phe)
c.*329G>C (n.*329G>C)
c.*2475G>C (n.*2475G>C)
n.465G>C
c.579G>C (p.Leu193Phe)
c.600G>C (p.Leu200Phe)
c.747G>C (p.Leu249Phe)
n.791G>C
c.2866G>C
c.669G>C (p.Leu223Phe)
22g.17181909C>TCA512864481ADA2c.630G>A (p.Leu210=)
c.1227G>A (p.Leu409=)
n.1241G>A
c.1353G>A (p.Leu451=)
c.993G>A (p.Leu331=)
c.*329G>A (n.*329G>A)
c.*2475G>A (n.*2475G>A)
n.465G>A
c.579G>A (p.Leu193=)
c.600G>A (p.Leu200=)
c.747G>A (p.Leu249=)
n.791G>A
c.2866G>A
c.669G>A (p.Leu223=)
22g.17181910A>CCA410231803ADA2c.629T>G (p.Leu210Trp)
c.1226T>G (p.Leu409Trp)
n.1240T>G
c.1352T>G (p.Leu451Trp)
c.992T>G (p.Leu331Trp)
c.*328T>G (n.*328T>G)
c.*2474T>G (n.*2474T>G)
n.464T>G
c.578T>G (p.Leu193Trp)
c.599T>G (p.Leu200Trp)
c.746T>G (p.Leu249Trp)
n.790T>G
c.2865T>G
c.668T>G (p.Leu223Trp)
22g.17181910A>GCA410231804ADA2c.629T>C (p.Leu210Ser)
c.1226T>C (p.Leu409Ser)
n.1240T>C
c.1352T>C (p.Leu451Ser)
c.992T>C (p.Leu331Ser)
c.*328T>C (n.*328T>C)
c.*2474T>C (n.*2474T>C)
n.464T>C
c.578T>C (p.Leu193Ser)
c.599T>C (p.Leu200Ser)
c.746T>C (p.Leu249Ser)
n.790T>C
c.2865T>C
c.668T>C (p.Leu223Ser)
22g.17181910A>TCA410231802ADA2c.629T>A (p.Leu210Ter)
c.1226T>A (p.Leu409Ter)
n.1240T>A
c.1352T>A (p.Leu451Ter)
c.992T>A (p.Leu331Ter)
c.*328T>A (n.*328T>A)
c.*2474T>A (n.*2474T>A)
n.464T>A
c.578T>A (p.Leu193Ter)
c.599T>A (p.Leu200Ter)
c.746T>A (p.Leu249Ter)
n.790T>A
c.2865T>A
c.668T>A (p.Leu223Ter)
22g.17181911A>CCA410231806ADA2c.628T>G (p.Leu210Val)
c.1225T>G (p.Leu409Val)
n.1239T>G
c.1351T>G (p.Leu451Val)
c.991T>G (p.Leu331Val)
c.*327T>G (n.*327T>G)
c.*2473T>G (n.*2473T>G)
n.463T>G
c.577T>G (p.Leu193Val)
c.598T>G (p.Leu200Val)
c.745T>G (p.Leu249Val)
n.789T>G
c.2864T>G
c.667T>G (p.Leu223Val)
22g.17181911A>GCA512864488ADA2c.628T>C (p.Leu210=)
c.1225T>C (p.Leu409=)
n.1239T>C
c.1351T>C (p.Leu451=)
c.991T>C (p.Leu331=)
c.*327T>C (n.*327T>C)
c.*2473T>C (n.*2473T>C)
n.463T>C
c.577T>C (p.Leu193=)
c.598T>C (p.Leu200=)
c.745T>C (p.Leu249=)
n.789T>C
c.2864T>C
c.667T>C (p.Leu223=)
22g.17181911A>TCA410231805ADA2c.628T>A (p.Leu210Met)
c.1225T>A (p.Leu409Met)
n.1239T>A
c.1351T>A (p.Leu451Met)
c.991T>A (p.Leu331Met)
c.*327T>A (n.*327T>A)
c.*2473T>A (n.*2473T>A)
n.463T>A
c.577T>A (p.Leu193Met)
c.598T>A (p.Leu200Met)
c.745T>A (p.Leu249Met)
n.789T>A
c.2864T>A
c.667T>A (p.Leu223Met)
22g.17181912G>ACA512864492ADA2c.627C>T (p.Gly209=)
c.1224C>T (p.Gly408=)
n.1238C>T
c.1350C>T (p.Gly450=)
c.990C>T (p.Gly330=)
c.*326C>T (n.*326C>T)
c.*2472C>T (n.*2472C>T)
n.462C>T
c.576C>T (p.Gly192=)
c.597C>T (p.Gly199=)
c.744C>T (p.Gly248=)
n.788C>T
c.2863C>T
c.666C>T (p.Gly222=)
22g.17181912G>CCA512864495ADA2c.627C>G (p.Gly209=)
c.1224C>G (p.Gly408=)
n.1238C>G
c.1350C>G (p.Gly450=)
c.990C>G (p.Gly330=)
c.*326C>G (n.*326C>G)
c.*2472C>G (n.*2472C>G)
n.462C>G
c.576C>G (p.Gly192=)
c.597C>G (p.Gly199=)
c.744C>G (p.Gly248=)
n.788C>G
c.2863C>G
c.666C>G (p.Gly222=)
22g.17181912G>TCA512864493ADA2c.627C>A (p.Gly209=)
c.1224C>A (p.Gly408=)
n.1238C>A
c.1350C>A (p.Gly450=)
c.990C>A (p.Gly330=)
c.*326C>A (n.*326C>A)
c.*2472C>A (n.*2472C>A)
n.462C>A
c.576C>A (p.Gly192=)
c.597C>A (p.Gly199=)
c.744C>A (p.Gly248=)
n.788C>A
c.2863C>A
c.666C>A (p.Gly222=)
22g.17181913C>ACA410231807ADA2c.626G>T (p.Gly209Val)
c.1223G>T (p.Gly408Val)
n.1237G>T
c.1349G>T (p.Gly450Val)
c.989G>T (p.Gly330Val)
c.*325G>T (n.*325G>T)
c.*2471G>T (n.*2471G>T)
n.461G>T
c.575G>T (p.Gly192Val)
c.596G>T (p.Gly199Val)
c.743G>T (p.Gly248Val)
n.787G>T
c.2862G>T
c.665G>T (p.Gly222Val)
 dbSNP gnomAD v4
22g.17181913C=CA2394964051ADA2c.626G= (p.Gly209=)
c.1223G= (p.Gly408=)
n.1237G=
c.1349G= (p.Gly450=)
c.989G= (p.Gly330=)
c.*325G= (n.*325G=)
c.*2471G= (n.*2471G=)
n.461G=
c.575G= (p.Gly192=)
c.596G= (p.Gly199=)
c.743G= (p.Gly248=)
n.787G=
c.2862G=
c.665G= (p.Gly222=)
22g.17181913C>GCA321169659ADA2c.626G>C (p.Gly209Ala)
c.1223G>C (p.Gly408Ala)
n.1237G>C
c.1349G>C (p.Gly450Ala)
c.989G>C (p.Gly330Ala)
c.*325G>C (n.*325G>C)
c.*2471G>C (n.*2471G>C)
n.461G>C
c.575G>C (p.Gly192Ala)
c.596G>C (p.Gly199Ala)
c.743G>C (p.Gly248Ala)
n.787G>C
c.2862G>C
c.665G>C (p.Gly222Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.17181913C>TCA10087893ADA2c.626G>A (p.Gly209Asp)
c.1223G>A (p.Gly408Asp)
n.1237G>A
c.1349G>A (p.Gly450Asp)
c.989G>A (p.Gly330Asp)
c.*325G>A (n.*325G>A)
c.*2471G>A (n.*2471G>A)
n.461G>A
c.575G>A (p.Gly192Asp)
c.596G>A (p.Gly199Asp)
c.743G>A (p.Gly248Asp)
n.787G>A
c.2862G>A
c.665G>A (p.Gly222Asp)
 dbSNP ExAC gnomAD v4
22g.17181914C>ACA410231808ADA2c.625G>T (p.Gly209Cys)
c.1222G>T (p.Gly408Cys)
n.1236G>T
c.1348G>T (p.Gly450Cys)
c.988G>T (p.Gly330Cys)
c.*324G>T (n.*324G>T)
c.*2470G>T (n.*2470G>T)
n.460G>T
c.574G>T (p.Gly192Cys)
c.595G>T (p.Gly199Cys)
c.742G>T (p.Gly248Cys)
n.786G>T
c.2861G>T
c.664G>T (p.Gly222Cys)
 dbSNP gnomAD v2 gnomAD v4
22g.17181914C=CA2394964052ADA2c.625G= (p.Gly209=)
c.1222G= (p.Gly408=)
n.1236G=
c.1348G= (p.Gly450=)
c.988G= (p.Gly330=)
c.*324G= (n.*324G=)
c.*2470G= (n.*2470G=)
n.460G=
c.574G= (p.Gly192=)
c.595G= (p.Gly199=)
c.742G= (p.Gly248=)
n.786G=
c.2861G=
c.664G= (p.Gly222=)
22g.17181914C>GCA410231809ADA2c.625G>C (p.Gly209Arg)
c.1222G>C (p.Gly408Arg)
n.1236G>C
c.1348G>C (p.Gly450Arg)
c.988G>C (p.Gly330Arg)
c.*324G>C (n.*324G>C)
c.*2470G>C (n.*2470G>C)
n.460G>C
c.574G>C (p.Gly192Arg)
c.595G>C (p.Gly199Arg)
c.742G>C (p.Gly248Arg)
n.786G>C
c.2861G>C
c.664G>C (p.Gly222Arg)
22g.17181914C>TCA410231810ADA2c.625G>A (p.Gly209Ser)
c.1222G>A (p.Gly408Ser)
n.1236G>A
c.1348G>A (p.Gly450Ser)
c.988G>A (p.Gly330Ser)
c.*324G>A (n.*324G>A)
c.*2470G>A (n.*2470G>A)
n.460G>A
c.574G>A (p.Gly192Ser)
c.595G>A (p.Gly199Ser)
c.742G>A (p.Gly248Ser)
n.786G>A
c.2861G>A
c.664G>A (p.Gly222Ser)
 ClinVar dbSNP gnomAD v4
22g.17181915T>ACA410231812ADA2c.624A>T (p.Lys208Asn)
c.1221A>T (p.Lys407Asn)
n.1235A>T
c.1347A>T (p.Lys449Asn)
c.987A>T (p.Lys329Asn)
c.*323A>T (n.*323A>T)
c.*2469A>T (n.*2469A>T)
n.459A>T
c.573A>T (p.Lys191Asn)
c.594A>T (p.Lys198Asn)
c.741A>T (p.Lys247Asn)
n.785A>T
c.2860A>T
c.663A>T (p.Lys221Asn)
22g.17181915T>CCA512864503ADA2c.624A>G (p.Lys208=)
c.1221A>G (p.Lys407=)
n.1235A>G
c.1347A>G (p.Lys449=)
c.987A>G (p.Lys329=)
c.*323A>G (n.*323A>G)
c.*2469A>G (n.*2469A>G)
n.459A>G
c.573A>G (p.Lys191=)
c.594A>G (p.Lys198=)
c.741A>G (p.Lys247=)
n.785A>G
c.2860A>G
c.663A>G (p.Lys221=)
22g.17181915T>GCA410231811ADA2c.624A>C (p.Lys208Asn)
c.1221A>C (p.Lys407Asn)
n.1235A>C
c.1347A>C (p.Lys449Asn)
c.987A>C (p.Lys329Asn)
c.*323A>C (n.*323A>C)
c.*2469A>C (n.*2469A>C)
n.459A>C
c.573A>C (p.Lys191Asn)
c.594A>C (p.Lys198Asn)
c.741A>C (p.Lys247Asn)
n.785A>C
c.2860A>C
c.663A>C (p.Lys221Asn)
22g.17181915_17181916insAACA2695230320ADA2c.623_624insTT (p.Lys208AsnfsTer2)
c.1220_1221insTT (p.Lys407AsnfsTer2)
n.1234_1235insTT
c.1346_1347insTT (p.Lys449AsnfsTer2)
c.986_987insTT (p.Lys329AsnfsTer2)
c.*322_*323insTT (n.*322_*323insTT)
c.*2468_*2469insTT (n.*2468_*2469insTT)
n.458_459insTT
c.572_573insTT (p.Lys191AsnfsTer2)
c.593_594insTT (p.Lys198AsnfsTer2)
c.740_741insTT (p.Lys247AsnfsTer2)
n.784_785insTT
c.2859_2860insTT
c.662_663insTT (p.Lys221AsnfsTer2)
22g.17181916T>ACA410231813ADA2c.623A>T (p.Lys208Ile)
c.1220A>T (p.Lys407Ile)
n.1234A>T
c.1346A>T (p.Lys449Ile)
c.986A>T (p.Lys329Ile)
c.*322A>T (n.*322A>T)
c.*2468A>T (n.*2468A>T)
n.458A>T
c.572A>T (p.Lys191Ile)
c.593A>T (p.Lys198Ile)
c.740A>T (p.Lys247Ile)
n.784A>T
c.2859A>T
c.662A>T (p.Lys221Ile)
22g.17181916T>CCA410231814ADA2c.623A>G (p.Lys208Arg)
c.1220A>G (p.Lys407Arg)
n.1234A>G
c.1346A>G (p.Lys449Arg)
c.986A>G (p.Lys329Arg)
c.*322A>G (n.*322A>G)
c.*2468A>G (n.*2468A>G)
n.458A>G
c.572A>G (p.Lys191Arg)
c.593A>G (p.Lys198Arg)
c.740A>G (p.Lys247Arg)
n.784A>G
c.2859A>G
c.662A>G (p.Lys221Arg)
22g.17181916T>GCA410231815ADA2c.623A>C (p.Lys208Thr)
c.1220A>C (p.Lys407Thr)
n.1234A>C
c.1346A>C (p.Lys449Thr)
c.986A>C (p.Lys329Thr)
c.*322A>C (n.*322A>C)
c.*2468A>C (n.*2468A>C)
n.458A>C
c.572A>C (p.Lys191Thr)
c.593A>C (p.Lys198Thr)
c.740A>C (p.Lys247Thr)
n.784A>C
c.2859A>C
c.662A>C (p.Lys221Thr)
22g.17181917T>ACA410231816ADA2c.622A>T (p.Lys208Ter)
c.1219A>T (p.Lys407Ter)
n.1233A>T
c.1345A>T (p.Lys449Ter)
c.985A>T (p.Lys329Ter)
c.*321A>T (n.*321A>T)
c.*2467A>T (n.*2467A>T)
n.457A>T
c.571A>T (p.Lys191Ter)
c.592A>T (p.Lys198Ter)
c.739A>T (p.Lys247Ter)
n.783A>T
c.2858A>T
c.661A>T (p.Lys221Ter)
22g.17181917T>CCA410231817ADA2c.622A>G (p.Lys208Glu)
c.1219A>G (p.Lys407Glu)
n.1233A>G
c.1345A>G (p.Lys449Glu)
c.985A>G (p.Lys329Glu)
c.*321A>G (n.*321A>G)
c.*2467A>G (n.*2467A>G)
n.457A>G
c.571A>G (p.Lys191Glu)
c.592A>G (p.Lys198Glu)
c.739A>G (p.Lys247Glu)
n.783A>G
c.2858A>G
c.661A>G (p.Lys221Glu)
22g.17181917T>GCA410231818ADA2c.622A>C (p.Lys208Gln)
c.1219A>C (p.Lys407Gln)
n.1233A>C
c.1345A>C (p.Lys449Gln)
c.985A>C (p.Lys329Gln)
c.*321A>C (n.*321A>C)
c.*2467A>C (n.*2467A>C)
n.457A>C
c.571A>C (p.Lys191Gln)
c.592A>C (p.Lys198Gln)
c.739A>C (p.Lys247Gln)
n.783A>C
c.2858A>C
c.661A>C (p.Lys221Gln)
22g.17181918G>ACA512864512ADA2c.621C>T (p.Ala207=)
c.1218C>T (p.Ala406=)
n.1232C>T
c.1344C>T (p.Ala448=)
c.984C>T (p.Ala328=)
c.*320C>T (n.*320C>T)
c.*2466C>T (n.*2466C>T)
n.456C>T
c.570C>T (p.Ala190=)
c.591C>T (p.Ala197=)
c.738C>T (p.Ala246=)
n.782C>T
c.2857C>T
c.660C>T (p.Ala220=)
 gnomAD v4
22g.17181918G>CCA512864514ADA2c.621C>G (p.Ala207=)
c.1218C>G (p.Ala406=)
n.1232C>G
c.1344C>G (p.Ala448=)
c.984C>G (p.Ala328=)
c.*320C>G (n.*320C>G)
c.*2466C>G (n.*2466C>G)
n.456C>G
c.570C>G (p.Ala190=)
c.591C>G (p.Ala197=)
c.738C>G (p.Ala246=)
n.782C>G
c.2857C>G
c.660C>G (p.Ala220=)
22g.17181918G>TCA512864515ADA2c.621C>A (p.Ala207=)
c.1218C>A (p.Ala406=)
n.1232C>A
c.1344C>A (p.Ala448=)
c.984C>A (p.Ala328=)
c.*320C>A (n.*320C>A)
c.*2466C>A (n.*2466C>A)
n.456C>A
c.570C>A (p.Ala190=)
c.591C>A (p.Ala197=)
c.738C>A (p.Ala246=)
n.782C>A
c.2857C>A
c.660C>A (p.Ala220=)
22g.17181919G>ACA410231819ADA2c.620C>T (p.Ala207Val)
c.1217C>T (p.Ala406Val)
n.1231C>T
c.1343C>T (p.Ala448Val)
c.983C>T (p.Ala328Val)
c.*319C>T (n.*319C>T)
c.*2465C>T (n.*2465C>T)
n.455C>T
c.569C>T (p.Ala190Val)
c.590C>T (p.Ala197Val)
c.737C>T (p.Ala246Val)
n.781C>T
c.2856C>T
c.659C>T (p.Ala220Val)
 gnomAD v4 COSMIC COSMIC
22g.17181919G>CCA410231821ADA2c.620C>G (p.Ala207Gly)
c.1217C>G (p.Ala406Gly)
n.1231C>G
c.1343C>G (p.Ala448Gly)
c.983C>G (p.Ala328Gly)
c.*319C>G (n.*319C>G)
c.*2465C>G (n.*2465C>G)
n.455C>G
c.569C>G (p.Ala190Gly)
c.590C>G (p.Ala197Gly)
c.737C>G (p.Ala246Gly)
n.781C>G
c.2856C>G
c.659C>G (p.Ala220Gly)
22g.17181919G>TCA410231820ADA2c.620C>A (p.Ala207Asp)
c.1217C>A (p.Ala406Asp)
n.1231C>A
c.1343C>A (p.Ala448Asp)
c.983C>A (p.Ala328Asp)
c.*319C>A (n.*319C>A)
c.*2465C>A (n.*2465C>A)
n.455C>A
c.569C>A (p.Ala190Asp)
c.590C>A (p.Ala197Asp)
c.737C>A (p.Ala246Asp)
n.781C>A
c.2856C>A
c.659C>A (p.Ala220Asp)
22g.17181920C>ACA410231822ADA2c.619G>T (p.Ala207Ser)
c.1216G>T (p.Ala406Ser)
n.1230G>T
c.1342G>T (p.Ala448Ser)
c.982G>T (p.Ala328Ser)
c.*318G>T (n.*318G>T)
c.*2464G>T (n.*2464G>T)
n.454G>T
c.568G>T (p.Ala190Ser)
c.589G>T (p.Ala197Ser)
c.736G>T (p.Ala246Ser)
n.780G>T
c.2855G>T
c.658G>T (p.Ala220Ser)
22g.17181920C>GCA410231823ADA2c.619G>C (p.Ala207Pro)
c.1216G>C (p.Ala406Pro)
n.1230G>C
c.1342G>C (p.Ala448Pro)
c.982G>C (p.Ala328Pro)
c.*318G>C (n.*318G>C)
c.*2464G>C (n.*2464G>C)
n.454G>C
c.568G>C (p.Ala190Pro)
c.589G>C (p.Ala197Pro)
c.736G>C (p.Ala246Pro)
n.780G>C
c.2855G>C
c.658G>C (p.Ala220Pro)
22g.17181920C>TCA410231824ADA2c.619G>A (p.Ala207Thr)
c.1216G>A (p.Ala406Thr)
n.1230G>A
c.1342G>A (p.Ala448Thr)
c.982G>A (p.Ala328Thr)
c.*318G>A (n.*318G>A)
c.*2464G>A (n.*2464G>A)
n.454G>A
c.568G>A (p.Ala190Thr)
c.589G>A (p.Ala197Thr)
c.736G>A (p.Ala246Thr)
n.780G>A
c.2855G>A
c.658G>A (p.Ala220Thr)
22g.17181921A>CCA512864523ADA2c.618T>G (p.Gly206=)
c.1215T>G (p.Gly405=)
n.1229T>G
c.1341T>G (p.Gly447=)
c.981T>G (p.Gly327=)
c.*317T>G (n.*317T>G)
c.*2463T>G (n.*2463T>G)
n.453T>G
c.567T>G (p.Gly189=)
c.588T>G (p.Gly196=)
c.735T>G (p.Gly245=)
n.779T>G
c.2854T>G
c.657T>G (p.Gly219=)
22g.17181921A>GCA512864525ADA2c.618T>C (p.Gly206=)
c.1215T>C (p.Gly405=)
n.1229T>C
c.1341T>C (p.Gly447=)
c.981T>C (p.Gly327=)
c.*317T>C (n.*317T>C)
c.*2463T>C (n.*2463T>C)
n.453T>C
c.567T>C (p.Gly189=)
c.588T>C (p.Gly196=)
c.735T>C (p.Gly245=)
n.779T>C
c.2854T>C
c.657T>C (p.Gly219=)
22g.17181921A>TCA512864526ADA2c.618T>A (p.Gly206=)
c.1215T>A (p.Gly405=)
n.1229T>A
c.1341T>A (p.Gly447=)
c.981T>A (p.Gly327=)
c.*317T>A (n.*317T>A)
c.*2463T>A (n.*2463T>A)
n.453T>A
c.567T>A (p.Gly189=)
c.588T>A (p.Gly196=)
c.735T>A (p.Gly245=)
n.779T>A
c.2854T>A
c.657T>A (p.Gly219=)
22g.17181922C>ACA410231825ADA2c.617G>T (p.Gly206Val)
c.1214G>T (p.Gly405Val)
n.1228G>T
c.1340G>T (p.Gly447Val)
c.980G>T (p.Gly327Val)
c.*316G>T (n.*316G>T)
c.*2462G>T (n.*2462G>T)
n.452G>T
c.566G>T (p.Gly189Val)
c.587G>T (p.Gly196Val)
c.734G>T (p.Gly245Val)
n.778G>T
c.2853G>T
c.656G>T (p.Gly219Val)
22g.17181922C>GCA410231826ADA2c.617G>C (p.Gly206Ala)
c.1214G>C (p.Gly405Ala)
n.1228G>C
c.1340G>C (p.Gly447Ala)
c.980G>C (p.Gly327Ala)
c.*316G>C (n.*316G>C)
c.*2462G>C (n.*2462G>C)
n.452G>C
c.566G>C (p.Gly189Ala)
c.587G>C (p.Gly196Ala)
c.734G>C (p.Gly245Ala)
n.778G>C
c.2853G>C
c.656G>C (p.Gly219Ala)
22g.17181922C>TCA410231827ADA2c.617G>A (p.Gly206Asp)
c.1214G>A (p.Gly405Asp)
n.1228G>A
c.1340G>A (p.Gly447Asp)
c.980G>A (p.Gly327Asp)
c.*316G>A (n.*316G>A)
c.*2462G>A (n.*2462G>A)
n.452G>A
c.566G>A (p.Gly189Asp)
c.587G>A (p.Gly196Asp)
c.734G>A (p.Gly245Asp)
n.778G>A
c.2853G>A
c.656G>A (p.Gly219Asp)
22g.17181923C>ACA410231828ADA2c.616G>T (p.Gly206Cys)
c.1213G>T (p.Gly405Cys)
n.1227G>T
c.1339G>T (p.Gly447Cys)
c.979G>T (p.Gly327Cys)
c.*315G>T (n.*315G>T)
c.*2461G>T (n.*2461G>T)
n.451G>T
c.565G>T (p.Gly189Cys)
c.586G>T (p.Gly196Cys)
c.733G>T (p.Gly245Cys)
n.777G>T
c.2852G>T
c.655G>T (p.Gly219Cys)
22g.17181923C>GCA410231829ADA2c.616G>C (p.Gly206Arg)
c.1213G>C (p.Gly405Arg)
n.1227G>C
c.1339G>C (p.Gly447Arg)
c.979G>C (p.Gly327Arg)
c.*315G>C (n.*315G>C)
c.*2461G>C (n.*2461G>C)
n.451G>C
c.565G>C (p.Gly189Arg)
c.586G>C (p.Gly196Arg)
c.733G>C (p.Gly245Arg)
n.777G>C
c.2852G>C
c.655G>C (p.Gly219Arg)
22g.17181923C>TCA410231830ADA2c.616G>A (p.Gly206Ser)
c.1213G>A (p.Gly405Ser)
n.1227G>A
c.1339G>A (p.Gly447Ser)
c.979G>A (p.Gly327Ser)
c.*315G>A (n.*315G>A)
c.*2461G>A (n.*2461G>A)
n.451G>A
c.565G>A (p.Gly189Ser)
c.586G>A (p.Gly196Ser)
c.733G>A (p.Gly245Ser)
n.777G>A
c.2852G>A
c.655G>A (p.Gly219Ser)
22g.17181924A>CCA410231831ADA2c.615T>G (p.Phe205Leu)
c.1212T>G (p.Phe404Leu)
n.1226T>G
c.1338T>G (p.Phe446Leu)
c.978T>G (p.Phe326Leu)
c.*314T>G (n.*314T>G)
c.*2460T>G (n.*2460T>G)
n.450T>G
c.564T>G (p.Phe188Leu)
c.585T>G (p.Phe195Leu)
c.732T>G (p.Phe244Leu)
n.776T>G
c.2851T>G
c.654T>G (p.Phe218Leu)
 gnomAD v4
22g.17181924A>GCA512864531ADA2c.615T>C (p.Phe205=)
c.1212T>C (p.Phe404=)
n.1226T>C
c.1338T>C (p.Phe446=)
c.978T>C (p.Phe326=)
c.*314T>C (n.*314T>C)
c.*2460T>C (n.*2460T>C)
n.450T>C
c.564T>C (p.Phe188=)
c.585T>C (p.Phe195=)
c.732T>C (p.Phe244=)
n.776T>C
c.2851T>C
c.654T>C (p.Phe218=)
22g.17181924A>TCA410231832ADA2c.615T>A (p.Phe205Leu)
c.1212T>A (p.Phe404Leu)
n.1226T>A
c.1338T>A (p.Phe446Leu)
c.978T>A (p.Phe326Leu)
c.*314T>A (n.*314T>A)
c.*2460T>A (n.*2460T>A)
n.450T>A
c.564T>A (p.Phe188Leu)
c.585T>A (p.Phe195Leu)
c.732T>A (p.Phe244Leu)
n.776T>A
c.2851T>A
c.654T>A (p.Phe218Leu)
22g.17181925A>CCA410231833ADA2c.614T>G (p.Phe205Cys)
c.1211T>G (p.Phe404Cys)
n.1225T>G
c.1337T>G (p.Phe446Cys)
c.977T>G (p.Phe326Cys)
c.*313T>G (n.*313T>G)
c.*2459T>G (n.*2459T>G)
n.449T>G
c.563T>G (p.Phe188Cys)
c.584T>G (p.Phe195Cys)
c.731T>G (p.Phe244Cys)
n.775T>G
c.2850T>G
c.653T>G (p.Phe218Cys)
22g.17181925A>GCA410231835ADA2c.614T>C (p.Phe205Ser)
c.1211T>C (p.Phe404Ser)
n.1225T>C
c.1337T>C (p.Phe446Ser)
c.977T>C (p.Phe326Ser)
c.*313T>C (n.*313T>C)
c.*2459T>C (n.*2459T>C)
n.449T>C
c.563T>C (p.Phe188Ser)
c.584T>C (p.Phe195Ser)
c.731T>C (p.Phe244Ser)
n.775T>C
c.2850T>C
c.653T>C (p.Phe218Ser)
22g.17181925A>TCA410231834ADA2c.614T>A (p.Phe205Tyr)
c.1211T>A (p.Phe404Tyr)
n.1225T>A
c.1337T>A (p.Phe446Tyr)
c.977T>A (p.Phe326Tyr)
c.*313T>A (n.*313T>A)
c.*2459T>A (n.*2459T>A)
n.449T>A
c.563T>A (p.Phe188Tyr)
c.584T>A (p.Phe195Tyr)
c.731T>A (p.Phe244Tyr)
n.775T>A
c.2850T>A
c.653T>A (p.Phe218Tyr)
22g.17181926A>CCA410231836ADA2c.613T>G (p.Phe205Val)
c.1210T>G (p.Phe404Val)
n.1224T>G
c.1336T>G (p.Phe446Val)
c.976T>G (p.Phe326Val)
c.*312T>G (n.*312T>G)
c.*2458T>G (n.*2458T>G)
n.448T>G
c.562T>G (p.Phe188Val)
c.583T>G (p.Phe195Val)
c.730T>G (p.Phe244Val)
n.774T>G
c.2849T>G
c.652T>G (p.Phe218Val)
22g.17181926A>GCA410231837ADA2c.613T>C (p.Phe205Leu)
c.1210T>C (p.Phe404Leu)
n.1224T>C
c.1336T>C (p.Phe446Leu)
c.976T>C (p.Phe326Leu)
c.*312T>C (n.*312T>C)
c.*2458T>C (n.*2458T>C)
n.448T>C
c.562T>C (p.Phe188Leu)
c.583T>C (p.Phe195Leu)
c.730T>C (p.Phe244Leu)
n.774T>C
c.2849T>C
c.652T>C (p.Phe218Leu)
22g.17181926A>TCA410231838ADA2c.613T>A (p.Phe205Ile)
c.1210T>A (p.Phe404Ile)
n.1224T>A
c.1336T>A (p.Phe446Ile)
c.976T>A (p.Phe326Ile)
c.*312T>A (n.*312T>A)
c.*2458T>A (n.*2458T>A)
n.448T>A
c.562T>A (p.Phe188Ile)
c.583T>A (p.Phe195Ile)
c.730T>A (p.Phe244Ile)
n.774T>A
c.2849T>A
c.652T>A (p.Phe218Ile)
22g.17181927C>ACA410231839ADA2c.612G>T (p.Met204Ile)
c.1209G>T (p.Met403Ile)
n.1223G>T
c.1335G>T (p.Met445Ile)
c.975G>T (p.Met325Ile)
c.*311G>T (n.*311G>T)
c.*2457G>T (n.*2457G>T)
n.447G>T
c.561G>T (p.Met187Ile)
c.582G>T (p.Met194Ile)
c.729G>T (p.Met243Ile)
n.773G>T
c.2848G>T
c.651G>T (p.Met217Ile)
22g.17181927C=CA2394964053ADA2c.612G= (p.Met204=)
c.1209G= (p.Met403=)
n.1223G=
c.1335G= (p.Met445=)
c.975G= (p.Met325=)
c.*311G= (n.*311G=)
c.*2457G= (n.*2457G=)
n.447G=
c.561G= (p.Met187=)
c.582G= (p.Met194=)
c.729G= (p.Met243=)
n.773G=
c.2848G=
c.651G= (p.Met217=)
22g.17181927C>GCA410231840ADA2c.612G>C (p.Met204Ile)
c.1209G>C (p.Met403Ile)
n.1223G>C
c.1335G>C (p.Met445Ile)
c.975G>C (p.Met325Ile)
c.*311G>C (n.*311G>C)
c.*2457G>C (n.*2457G>C)
n.447G>C
c.561G>C (p.Met187Ile)
c.582G>C (p.Met194Ile)
c.729G>C (p.Met243Ile)
n.773G>C
c.2848G>C
c.651G>C (p.Met217Ile)
 dbSNP gnomAD v2 gnomAD v4
22g.17181927C>TCA410231841ADA2c.612G>A (p.Met204Ile)
c.1209G>A (p.Met403Ile)
n.1223G>A
c.1335G>A (p.Met445Ile)
c.975G>A (p.Met325Ile)
c.*311G>A (n.*311G>A)
c.*2457G>A (n.*2457G>A)
n.447G>A
c.561G>A (p.Met187Ile)
c.582G>A (p.Met194Ile)
c.729G>A (p.Met243Ile)
n.773G>A
c.2848G>A
c.651G>A (p.Met217Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.17181928A=CA2394964054ADA2c.611T= (p.Met204=)
c.1208T= (p.Met403=)
n.1222T=
c.1334T= (p.Met445=)
c.974T= (p.Met325=)
c.*310T= (n.*310T=)
c.*2456T= (n.*2456T=)
n.446T=
c.560T= (p.Met187=)
c.581T= (p.Met194=)
c.728T= (p.Met243=)
n.772T=
c.2847T=
c.650T= (p.Met217=)
22g.17181928A>CCA410231842ADA2c.611T>G (p.Met204Arg)
c.1208T>G (p.Met403Arg)
n.1222T>G
c.1334T>G (p.Met445Arg)
c.974T>G (p.Met325Arg)
c.*310T>G (n.*310T>G)
c.*2456T>G (n.*2456T>G)
n.446T>G
c.560T>G (p.Met187Arg)
c.581T>G (p.Met194Arg)
c.728T>G (p.Met243Arg)
n.772T>G
c.2847T>G
c.650T>G (p.Met217Arg)
22g.17181928A>GCA10087894ADA2c.611T>C (p.Met204Thr)
c.1208T>C (p.Met403Thr)
n.1222T>C
c.1334T>C (p.Met445Thr)
c.974T>C (p.Met325Thr)
c.*310T>C (n.*310T>C)
c.*2456T>C (n.*2456T>C)
n.446T>C
c.560T>C (p.Met187Thr)
c.581T>C (p.Met194Thr)
c.728T>C (p.Met243Thr)
n.772T>C
c.2847T>C
c.650T>C (p.Met217Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
22g.17181928A>TCA410231843ADA2c.611T>A (p.Met204Lys)
c.1208T>A (p.Met403Lys)
n.1222T>A
c.1334T>A (p.Met445Lys)
c.974T>A (p.Met325Lys)
c.*310T>A (n.*310T>A)
c.*2456T>A (n.*2456T>A)
n.446T>A
c.560T>A (p.Met187Lys)
c.581T>A (p.Met194Lys)
c.728T>A (p.Met243Lys)
n.772T>A
c.2847T>A
c.650T>A (p.Met217Lys)
22g.17181929_17181930dupCA2577637575ADA2c.610_611dup (p.Met204IlefsTer22)
c.1207_1208dup (p.Met403IlefsTer22)
n.1221_1222dup
c.1333_1334dup (p.Met445IlefsTer22)
c.973_974dup (p.Met325IlefsTer22)
c.*309_*310dup (n.*309_*310dup)
c.*2455_*2456dup (n.*2455_*2456dup)
n.445_446dup
c.559_560dup (p.Met187IlefsTer22)
c.580_581dup (p.Met194IlefsTer22)
c.727_728dup (p.Met243IlefsTer22)
n.771_772dup
c.2846_2847dup
c.649_650dup (p.Met217IlefsTer22)
22g.17181929T>ACA410231844ADA2c.610A>T (p.Met204Leu)
c.1207A>T (p.Met403Leu)
n.1221A>T
c.1333A>T (p.Met445Leu)
c.973A>T (p.Met325Leu)
c.*309A>T (n.*309A>T)
c.*2455A>T (n.*2455A>T)
n.445A>T
c.559A>T (p.Met187Leu)
c.580A>T (p.Met194Leu)
c.727A>T (p.Met243Leu)
n.771A>T
c.2846A>T
c.649A>T (p.Met217Leu)
22g.17181929T>CCA410231845ADA2c.610A>G (p.Met204Val)
c.1207A>G (p.Met403Val)
n.1221A>G
c.1333A>G (p.Met445Val)
c.973A>G (p.Met325Val)
c.*309A>G (n.*309A>G)
c.*2455A>G (n.*2455A>G)
n.445A>G
c.559A>G (p.Met187Val)
c.580A>G (p.Met194Val)
c.727A>G (p.Met243Val)
n.771A>G
c.2846A>G
c.649A>G (p.Met217Val)
 gnomAD v4
22g.17181929T>GCA410231846ADA2c.610A>C (p.Met204Leu)
c.1207A>C (p.Met403Leu)
n.1221A>C
c.1333A>C (p.Met445Leu)
c.973A>C (p.Met325Leu)
c.*309A>C (n.*309A>C)
c.*2455A>C (n.*2455A>C)
n.445A>C
c.559A>C (p.Met187Leu)
c.580A>C (p.Met194Leu)
c.727A>C (p.Met243Leu)
n.771A>C
c.2846A>C
c.649A>C (p.Met217Leu)
 dbSNP
22g.17181929T=CA2394964055ADA2c.610A= (p.Met204=)
c.1207A= (p.Met403=)
n.1221A=
c.1333A= (p.Met445=)
c.973A= (p.Met325=)
c.*309A= (n.*309A=)
c.*2455A= (n.*2455A=)
n.445A=
c.559A= (p.Met187=)
c.580A= (p.Met194=)
c.727A= (p.Met243=)
n.771A=
c.2846A=
c.649A= (p.Met217=)
22g.17181930A>CCA512864548ADA2c.609T>G (p.Ala203=)
c.1206T>G (p.Ala402=)
n.1220T>G
c.1332T>G (p.Ala444=)
c.972T>G (p.Ala324=)
c.*308T>G (n.*308T>G)
c.*2454T>G (n.*2454T>G)
n.444T>G
c.558T>G (p.Ala186=)
c.579T>G (p.Ala193=)
c.726T>G (p.Ala242=)
n.770T>G
c.2845T>G
c.648T>G (p.Ala216=)
22g.17181930A>GCA512864550ADA2c.609T>C (p.Ala203=)
c.1206T>C (p.Ala402=)
n.1220T>C
c.1332T>C (p.Ala444=)
c.972T>C (p.Ala324=)
c.*308T>C (n.*308T>C)
c.*2454T>C (n.*2454T>C)
n.444T>C
c.558T>C (p.Ala186=)
c.579T>C (p.Ala193=)
c.726T>C (p.Ala242=)
n.770T>C
c.2845T>C
c.648T>C (p.Ala216=)
 gnomAD v4
22g.17181930A>TCA512864551ADA2c.609T>A (p.Ala203=)
c.1206T>A (p.Ala402=)
n.1220T>A
c.1332T>A (p.Ala444=)
c.972T>A (p.Ala324=)
c.*308T>A (n.*308T>A)
c.*2454T>A (n.*2454T>A)
n.444T>A
c.558T>A (p.Ala186=)
c.579T>A (p.Ala193=)
c.726T>A (p.Ala242=)
n.770T>A
c.2845T>A
c.648T>A (p.Ala216=)
22g.17181931G>ACA410231849ADA2c.608C>T (p.Ala203Val)
c.1205C>T (p.Ala402Val)
n.1219C>T
c.1331C>T (p.Ala444Val)
c.971C>T (p.Ala324Val)
c.*307C>T (n.*307C>T)
c.*2453C>T (n.*2453C>T)
n.443C>T
c.557C>T (p.Ala186Val)
c.578C>T (p.Ala193Val)
c.725C>T (p.Ala242Val)
n.769C>T
c.2844C>T
c.647C>T (p.Ala216Val)
22g.17181931G>CCA410231847ADA2c.608C>G (p.Ala203Gly)
c.1205C>G (p.Ala402Gly)
n.1219C>G
c.1331C>G (p.Ala444Gly)
c.971C>G (p.Ala324Gly)
c.*307C>G (n.*307C>G)
c.*2453C>G (n.*2453C>G)
n.443C>G
c.557C>G (p.Ala186Gly)
c.578C>G (p.Ala193Gly)
c.725C>G (p.Ala242Gly)
n.769C>G
c.2844C>G
c.647C>G (p.Ala216Gly)
22g.17181931G>TCA410231848ADA2c.608C>A (p.Ala203Asp)
c.1205C>A (p.Ala402Asp)
n.1219C>A
c.1331C>A (p.Ala444Asp)
c.971C>A (p.Ala324Asp)
c.*307C>A (n.*307C>A)
c.*2453C>A (n.*2453C>A)
n.443C>A
c.557C>A (p.Ala186Asp)
c.578C>A (p.Ala193Asp)
c.725C>A (p.Ala242Asp)
n.769C>A
c.2844C>A
c.647C>A (p.Ala216Asp)
22g.17181932C>ACA410231850ADA2c.607G>T (p.Ala203Ser)
c.1204G>T (p.Ala402Ser)
n.1218G>T
c.1330G>T (p.Ala444Ser)
c.970G>T (p.Ala324Ser)
c.*306G>T (n.*306G>T)
c.*2452G>T (n.*2452G>T)
n.442G>T
c.556G>T (p.Ala186Ser)
c.577G>T (p.Ala193Ser)
c.724G>T (p.Ala242Ser)
n.768G>T
c.2843G>T
c.646G>T (p.Ala216Ser)
22g.17181932C=CA2394964056ADA2c.607G= (p.Ala203=)
c.1204G= (p.Ala402=)
n.1218G=
c.1330G= (p.Ala444=)
c.970G= (p.Ala324=)
c.*306G= (n.*306G=)
c.*2452G= (n.*2452G=)
n.442G=
c.556G= (p.Ala186=)
c.577G= (p.Ala193=)
c.724G= (p.Ala242=)
n.768G=
c.2843G=
c.646G= (p.Ala216=)
22g.17181932C>GCA410231851ADA2c.607G>C (p.Ala203Pro)
c.1204G>C (p.Ala402Pro)
n.1218G>C
c.1330G>C (p.Ala444Pro)
c.970G>C (p.Ala324Pro)
c.*306G>C (n.*306G>C)
c.*2452G>C (n.*2452G>C)
n.442G>C
c.556G>C (p.Ala186Pro)
c.577G>C (p.Ala193Pro)
c.724G>C (p.Ala242Pro)
n.768G>C
c.2843G>C
c.646G>C (p.Ala216Pro)
22g.17181932C>TCA321169678ADA2c.607G>A (p.Ala203Thr)
c.1204G>A (p.Ala402Thr)
n.1218G>A
c.1330G>A (p.Ala444Thr)
c.970G>A (p.Ala324Thr)
c.*306G>A (n.*306G>A)
c.*2452G>A (n.*2452G>A)
n.442G>A
c.556G>A (p.Ala186Thr)
c.577G>A (p.Ala193Thr)
c.724G>A (p.Ala242Thr)
n.768G>A
c.2843G>A
c.646G>A (p.Ala216Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.17181933T>ACA512864562ADA2c.606A>T (p.Pro202=)
c.1203A>T (p.Pro401=)
n.1217A>T
c.1329A>T (p.Pro443=)
c.969A>T (p.Pro323=)
c.*305A>T (n.*305A>T)
c.*2451A>T (n.*2451A>T)
n.441A>T
c.555A>T (p.Pro185=)
c.576A>T (p.Pro192=)
c.723A>T (p.Pro241=)
n.767A>T
c.2842A>T
c.645A>T (p.Pro215=)
22g.17181933T>CCA512864558ADA2c.606A>G (p.Pro202=)
c.1203A>G (p.Pro401=)
n.1217A>G
c.1329A>G (p.Pro443=)
c.969A>G (p.Pro323=)
c.*305A>G (n.*305A>G)
c.*2451A>G (n.*2451A>G)
n.441A>G
c.555A>G (p.Pro185=)
c.576A>G (p.Pro192=)
c.723A>G (p.Pro241=)
n.767A>G
c.2842A>G
c.645A>G (p.Pro215=)
22g.17181933T>GCA512864560ADA2c.606A>C (p.Pro202=)
c.1203A>C (p.Pro401=)
n.1217A>C
c.1329A>C (p.Pro443=)
c.969A>C (p.Pro323=)
c.*305A>C (n.*305A>C)
c.*2451A>C (n.*2451A>C)
n.441A>C
c.555A>C (p.Pro185=)
c.576A>C (p.Pro192=)
c.723A>C (p.Pro241=)
n.767A>C
c.2842A>C
c.645A>C (p.Pro215=)
22g.17181933_17181937delCA2818307697ADA2c.602_606del (p.Asp201GlyfsTer11)
c.1199_1203del (p.Asp400GlyfsTer11)
n.1213_1217del
c.1325_1329del (p.Asp442GlyfsTer11)
c.965_969del (p.Asp322GlyfsTer11)
c.*301_*305del (n.*301_*305del)
c.*2447_*2451del (n.*2447_*2451del)
n.437_441del
c.551_555del (p.Asp184GlyfsTer11)
c.572_576del (p.Asp191GlyfsTer11)
c.719_723del (p.Asp240GlyfsTer11)
n.763_767del
c.2838_2842del
c.641_645del (p.Asp214GlyfsTer11)
22g.17181934G>ACA410231852ADA2c.605C>T (p.Pro202Leu)
c.1202C>T (p.Pro401Leu)
n.1216C>T
c.1328C>T (p.Pro443Leu)
c.968C>T (p.Pro323Leu)
c.*304C>T (n.*304C>T)
c.*2450C>T (n.*2450C>T)
n.440C>T
c.554C>T (p.Pro185Leu)
c.575C>T (p.Pro192Leu)
c.722C>T (p.Pro241Leu)
n.766C>T
c.2841C>T
c.644C>T (p.Pro215Leu)
22g.17181934G>CCA410231853ADA2c.605C>G (p.Pro202Arg)
c.1202C>G (p.Pro401Arg)
n.1216C>G
c.1328C>G (p.Pro443Arg)
c.968C>G (p.Pro323Arg)
c.*304C>G (n.*304C>G)
c.*2450C>G (n.*2450C>G)
n.440C>G
c.554C>G (p.Pro185Arg)
c.575C>G (p.Pro192Arg)
c.722C>G (p.Pro241Arg)
n.766C>G
c.2841C>G
c.644C>G (p.Pro215Arg)
22g.17181934G>TCA410231854ADA2c.605C>A (p.Pro202Gln)
c.1202C>A (p.Pro401Gln)
n.1216C>A
c.1328C>A (p.Pro443Gln)
c.968C>A (p.Pro323Gln)
c.*304C>A (n.*304C>A)
c.*2450C>A (n.*2450C>A)
n.440C>A
c.554C>A (p.Pro185Gln)
c.575C>A (p.Pro192Gln)
c.722C>A (p.Pro241Gln)
n.766C>A
c.2841C>A
c.644C>A (p.Pro215Gln)
22g.17181935G>ACA10087895ADA2c.604C>T (p.Pro202Ser)
c.1201C>T (p.Pro401Ser)
n.1215C>T
c.1327C>T (p.Pro443Ser)
c.967C>T (p.Pro323Ser)
c.*303C>T (n.*303C>T)
c.*2449C>T (n.*2449C>T)
n.439C>T
c.553C>T (p.Pro185Ser)
c.574C>T (p.Pro192Ser)
c.721C>T (p.Pro241Ser)
n.765C>T
c.2840C>T
c.643C>T (p.Pro215Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.17181935G>CCA410231855ADA2c.604C>G (p.Pro202Ala)
c.1201C>G (p.Pro401Ala)
n.1215C>G
c.1327C>G (p.Pro443Ala)
c.967C>G (p.Pro323Ala)
c.*303C>G (n.*303C>G)
c.*2449C>G (n.*2449C>G)
n.439C>G
c.553C>G (p.Pro185Ala)
c.574C>G (p.Pro192Ala)
c.721C>G (p.Pro241Ala)
n.765C>G
c.2840C>G
c.643C>G (p.Pro215Ala)
22g.17181935G=CA2394964057ADA2c.604C= (p.Pro202=)
c.1201C= (p.Pro401=)
n.1215C=
c.1327C= (p.Pro443=)
c.967C= (p.Pro323=)
c.*303C= (n.*303C=)
c.*2449C= (n.*2449C=)
n.439C=
c.553C= (p.Pro185=)
c.574C= (p.Pro192=)
c.721C= (p.Pro241=)
n.765C=
c.2840C=
c.643C= (p.Pro215=)
22g.17181935G>TCA410231856ADA2c.604C>A (p.Pro202Thr)
c.1201C>A (p.Pro401Thr)
n.1215C>A
c.1327C>A (p.Pro443Thr)
c.967C>A (p.Pro323Thr)
c.*303C>A (n.*303C>A)
c.*2449C>A (n.*2449C>A)
n.439C>A
c.553C>A (p.Pro185Thr)
c.574C>A (p.Pro192Thr)
c.721C>A (p.Pro241Thr)
n.765C>A
c.2840C>A
c.643C>A (p.Pro215Thr)
22g.17181936G>ACA512864570ADA2c.603C>T (p.Asp201=)
c.1200C>T (p.Asp400=)
n.1214C>T
c.1326C>T (p.Asp442=)
c.966C>T (p.Asp322=)
c.*302C>T (n.*302C>T)
c.*2448C>T (n.*2448C>T)
n.438C>T
c.552C>T (p.Asp184=)
c.573C>T (p.Asp191=)
c.720C>T (p.Asp240=)
n.764C>T
c.2839C>T
c.642C>T (p.Asp214=)
22g.17181936G>CCA410231857ADA2c.603C>G (p.Asp201Glu)
c.1200C>G (p.Asp400Glu)
n.1214C>G
c.1326C>G (p.Asp442Glu)
c.966C>G (p.Asp322Glu)
c.*302C>G (n.*302C>G)
c.*2448C>G (n.*2448C>G)
n.438C>G
c.552C>G (p.Asp184Glu)
c.573C>G (p.Asp191Glu)
c.720C>G (p.Asp240Glu)
n.764C>G
c.2839C>G
c.642C>G (p.Asp214Glu)
22g.17181936G>TCA410231858ADA2c.603C>A (p.Asp201Glu)
c.1200C>A (p.Asp400Glu)
n.1214C>A
c.1326C>A (p.Asp442Glu)
c.966C>A (p.Asp322Glu)
c.*302C>A (n.*302C>A)
c.*2448C>A (n.*2448C>A)
n.438C>A
c.552C>A (p.Asp184Glu)
c.573C>A (p.Asp191Glu)
c.720C>A (p.Asp240Glu)
n.764C>A
c.2839C>A
c.642C>A (p.Asp214Glu)
22g.17181937T>ACA410231860ADA2c.602A>T (p.Asp201Val)
c.1199A>T (p.Asp400Val)
n.1213A>T
c.1325A>T (p.Asp442Val)
c.965A>T (p.Asp322Val)
c.*301A>T (n.*301A>T)
c.*2447A>T (n.*2447A>T)
n.437A>T
c.551A>T (p.Asp184Val)
c.572A>T (p.Asp191Val)
c.719A>T (p.Asp240Val)
n.763A>T
c.2838A>T
c.641A>T (p.Asp214Val)
22g.17181937T>CCA410231861ADA2c.602A>G (p.Asp201Gly)
c.1199A>G (p.Asp400Gly)
n.1213A>G
c.1325A>G (p.Asp442Gly)
c.965A>G (p.Asp322Gly)
c.*301A>G (n.*301A>G)
c.*2447A>G (n.*2447A>G)
n.437A>G
c.551A>G (p.Asp184Gly)
c.572A>G (p.Asp191Gly)
c.719A>G (p.Asp240Gly)
n.763A>G
c.2838A>G
c.641A>G (p.Asp214Gly)
22g.17181937T>GCA410231859ADA2c.602A>C (p.Asp201Ala)
c.1199A>C (p.Asp400Ala)
n.1213A>C
c.1325A>C (p.Asp442Ala)
c.965A>C (p.Asp322Ala)
c.*301A>C (n.*301A>C)
c.*2447A>C (n.*2447A>C)
n.437A>C
c.551A>C (p.Asp184Ala)
c.572A>C (p.Asp191Ala)
c.719A>C (p.Asp240Ala)
n.763A>C
c.2838A>C
c.641A>C (p.Asp214Ala)
22g.17181938C>ACA410231864ADA2c.601G>T (p.Asp201Tyr)
c.1198G>T (p.Asp400Tyr)
n.1212G>T
c.1324G>T (p.Asp442Tyr)
c.964G>T (p.Asp322Tyr)
c.*300G>T (n.*300G>T)
c.*2446G>T (n.*2446G>T)
n.436G>T
c.550G>T (p.Asp184Tyr)
c.571G>T (p.Asp191Tyr)
c.718G>T (p.Asp240Tyr)
n.762G>T
c.2837G>T
c.640G>T (p.Asp214Tyr)
 gnomAD v4
22g.17181938C>GCA410231862ADA2c.601G>C (p.Asp201His)
c.1198G>C (p.Asp400His)
n.1212G>C
c.1324G>C (p.Asp442His)
c.964G>C (p.Asp322His)
c.*300G>C (n.*300G>C)
c.*2446G>C (n.*2446G>C)
n.436G>C
c.550G>C (p.Asp184His)
c.571G>C (p.Asp191His)
c.718G>C (p.Asp240His)
n.762G>C
c.2837G>C
c.640G>C (p.Asp214His)
 gnomAD v4
22g.17181938C>TCA410231863ADA2c.601G>A (p.Asp201Asn)
c.1198G>A (p.Asp400Asn)
n.1212G>A
c.1324G>A (p.Asp442Asn)
c.964G>A (p.Asp322Asn)
c.*300G>A (n.*300G>A)
c.*2446G>A (n.*2446G>A)
n.436G>A
c.550G>A (p.Asp184Asn)
c.571G>A (p.Asp191Asn)
c.718G>A (p.Asp240Asn)
n.762G>A
c.2837G>A
c.640G>A (p.Asp214Asn)
22g.17181941_17181956delCA2818307698ADA2c.586_601del (p.Val196ThrfsTer24)
c.1183_1198del (p.Val395ThrfsTer24)
n.1197_1212del
c.1309_1324del (p.Val437ThrfsTer24)
c.949_964del (p.Val317ThrfsTer24)
c.*285_*300del (n.*285_*300del)
c.*2431_*2446del (n.*2431_*2446del)
n.421_436del
c.535_550del (p.Val179ThrfsTer24)
c.556_571del (p.Val186ThrfsTer24)
c.703_718del (p.Val235ThrfsTer24)
n.747_762del
c.2822_2837del
c.625_640del (p.Val209ThrfsTer24)
22g.17181939A>CCA410231865ADA2c.600T>G (p.Asp200Glu)
c.1197T>G (p.Asp399Glu)
n.1211T>G
c.1323T>G (p.Asp441Glu)
c.963T>G (p.Asp321Glu)
c.*299T>G (n.*299T>G)
c.*2445T>G (n.*2445T>G)
n.435T>G
c.549T>G (p.Asp183Glu)
c.570T>G (p.Asp190Glu)
c.717T>G (p.Asp239Glu)
n.761T>G
c.2836T>G
c.639T>G (p.Asp213Glu)
22g.17181939A>GCA512864580ADA2c.600T>C (p.Asp200=)
c.1197T>C (p.Asp399=)
n.1211T>C
c.1323T>C (p.Asp441=)
c.963T>C (p.Asp321=)
c.*299T>C (n.*299T>C)
c.*2445T>C (n.*2445T>C)
n.435T>C
c.549T>C (p.Asp183=)
c.570T>C (p.Asp190=)
c.717T>C (p.Asp239=)
n.761T>C
c.2836T>C
c.639T>C (p.Asp213=)
 gnomAD v4
22g.17181939A>TCA410231866ADA2c.600T>A (p.Asp200Glu)
c.1197T>A (p.Asp399Glu)
n.1211T>A
c.1323T>A (p.Asp441Glu)
c.963T>A (p.Asp321Glu)
c.*299T>A (n.*299T>A)
c.*2445T>A (n.*2445T>A)
n.435T>A
c.549T>A (p.Asp183Glu)
c.570T>A (p.Asp190Glu)
c.717T>A (p.Asp239Glu)
n.761T>A
c.2836T>A
c.639T>A (p.Asp213Glu)
22g.17181940T>ACA410231867ADA2c.599A>T (p.Asp200Val)
c.1196A>T (p.Asp399Val)
n.1210A>T
c.1322A>T (p.Asp441Val)
c.962A>T (p.Asp321Val)
c.*298A>T (n.*298A>T)
c.*2444A>T (n.*2444A>T)
n.434A>T
c.548A>T (p.Asp183Val)
c.569A>T (p.Asp190Val)
c.716A>T (p.Asp239Val)
n.760A>T
c.2835A>T
c.638A>T (p.Asp213Val)
22g.17181940T>CCA410231868ADA2c.599A>G (p.Asp200Gly)
c.1196A>G (p.Asp399Gly)
n.1210A>G
c.1322A>G (p.Asp441Gly)
c.962A>G (p.Asp321Gly)
c.*298A>G (n.*298A>G)
c.*2444A>G (n.*2444A>G)
n.434A>G
c.548A>G (p.Asp183Gly)
c.569A>G (p.Asp190Gly)
c.716A>G (p.Asp239Gly)
n.760A>G
c.2835A>G
c.638A>G (p.Asp213Gly)
22g.17181940T>GCA410231869ADA2c.599A>C (p.Asp200Ala)
c.1196A>C (p.Asp399Ala)
n.1210A>C
c.1322A>C (p.Asp441Ala)
c.962A>C (p.Asp321Ala)
c.*298A>C (n.*298A>C)
c.*2444A>C (n.*2444A>C)
n.434A>C
c.548A>C (p.Asp183Ala)
c.569A>C (p.Asp190Ala)
c.716A>C (p.Asp239Ala)
n.760A>C
c.2835A>C
c.638A>C (p.Asp213Ala)
22g.17181941C>ACA410231870ADA2c.598G>T (p.Asp200Tyr)
c.1195G>T (p.Asp399Tyr)
n.1209G>T
c.1321G>T (p.Asp441Tyr)
c.961G>T (p.Asp321Tyr)
c.*297G>T (n.*297G>T)
c.*2443G>T (n.*2443G>T)
n.433G>T
c.547G>T (p.Asp183Tyr)
c.568G>T (p.Asp190Tyr)
c.715G>T (p.Asp239Tyr)
n.759G>T
c.2834G>T
c.637G>T (p.Asp213Tyr)
22g.17181941C>GCA410231871ADA2c.598G>C (p.Asp200His)
c.1195G>C (p.Asp399His)
n.1209G>C
c.1321G>C (p.Asp441His)
c.961G>C (p.Asp321His)
c.*297G>C (n.*297G>C)
c.*2443G>C (n.*2443G>C)
n.433G>C
c.547G>C (p.Asp183His)
c.568G>C (p.Asp190His)
c.715G>C (p.Asp239His)
n.759G>C
c.2834G>C
c.637G>C (p.Asp213His)
22g.17181941C>TCA410231872ADA2c.598G>A (p.Asp200Asn)
c.1195G>A (p.Asp399Asn)
n.1209G>A
c.1321G>A (p.Asp441Asn)
c.961G>A (p.Asp321Asn)
c.*297G>A (n.*297G>A)
c.*2443G>A (n.*2443G>A)
n.433G>A
c.547G>A (p.Asp183Asn)
c.568G>A (p.Asp190Asn)
c.715G>A (p.Asp239Asn)
n.759G>A
c.2834G>A
c.637G>A (p.Asp213Asn)
 COSMIC COSMIC
22g.17181942A>CCA512864591ADA2c.597T>G (p.Ser199=)
c.1194T>G (p.Ser398=)
n.1208T>G
c.1320T>G (p.Ser440=)
c.960T>G (p.Ser320=)
c.*296T>G (n.*296T>G)
c.*2442T>G (n.*2442T>G)
n.432T>G
c.546T>G (p.Ser182=)
c.567T>G (p.Ser189=)
c.714T>G (p.Ser238=)
n.758T>G
c.2833T>G
c.636T>G (p.Ser212=)
22g.17181942A>GCA512864593ADA2c.597T>C (p.Ser199=)
c.1194T>C (p.Ser398=)
n.1208T>C
c.1320T>C (p.Ser440=)
c.960T>C (p.Ser320=)
c.*296T>C (n.*296T>C)
c.*2442T>C (n.*2442T>C)
n.432T>C
c.546T>C (p.Ser182=)
c.567T>C (p.Ser189=)
c.714T>C (p.Ser238=)
n.758T>C
c.2833T>C
c.636T>C (p.Ser212=)
22g.17181942A>TCA512864594ADA2c.597T>A (p.Ser199=)
c.1194T>A (p.Ser398=)
n.1208T>A
c.1320T>A (p.Ser440=)
c.960T>A (p.Ser320=)
c.*296T>A (n.*296T>A)
c.*2442T>A (n.*2442T>A)
n.432T>A
c.546T>A (p.Ser182=)
c.567T>A (p.Ser189=)
c.714T>A (p.Ser238=)
n.758T>A
c.2833T>A
c.636T>A (p.Ser212=)
22g.17181943G>ACA410231873ADA2c.596C>T (p.Ser199Phe)
c.1193C>T (p.Ser398Phe)
n.1207C>T
c.1319C>T (p.Ser440Phe)
c.959C>T (p.Ser320Phe)
c.*295C>T (n.*295C>T)
c.*2441C>T (n.*2441C>T)
n.431C>T
c.545C>T (p.Ser182Phe)
c.566C>T (p.Ser189Phe)
c.713C>T (p.Ser238Phe)
n.757C>T
c.2832C>T
c.635C>T (p.Ser212Phe)
22g.17181943G>CCA410231874ADA2c.596C>G (p.Ser199Cys)
c.1193C>G (p.Ser398Cys)
n.1207C>G
c.1319C>G (p.Ser440Cys)
c.959C>G (p.Ser320Cys)
c.*295C>G (n.*295C>G)
c.*2441C>G (n.*2441C>G)
n.431C>G
c.545C>G (p.Ser182Cys)
c.566C>G (p.Ser189Cys)
c.713C>G (p.Ser238Cys)
n.757C>G
c.2832C>G
c.635C>G (p.Ser212Cys)
 gnomAD v4
22g.17181943G>TCA410231875ADA2c.596C>A (p.Ser199Tyr)
c.1193C>A (p.Ser398Tyr)
n.1207C>A
c.1319C>A (p.Ser440Tyr)
c.959C>A (p.Ser320Tyr)
c.*295C>A (n.*295C>A)
c.*2441C>A (n.*2441C>A)
n.431C>A
c.545C>A (p.Ser182Tyr)
c.566C>A (p.Ser189Tyr)
c.713C>A (p.Ser238Tyr)
n.757C>A
c.2832C>A
c.635C>A (p.Ser212Tyr)
22g.17181944_17181960delCA2577637577ADA2c.580_596del (p.Pro194Ter)
c.1177_1193del (p.Pro393Ter)
n.1191_1207del
c.1303_1319del (p.Pro435Ter)
c.943_959del (p.Pro315Ter)
c.*279_*295del (n.*279_*295del)
c.*2425_*2441del (n.*2425_*2441del)
n.415_431del
c.529_545del (p.Pro177Ter)
c.550_566del (p.Pro184Ter)
c.697_713del (p.Pro233Ter)
n.741_757del
c.2816_2832del
c.619_635del (p.Pro207Ter)
 ClinVar
22g.17181944A>CCA410231878ADA2c.595T>G (p.Ser199Ala)
c.1192T>G (p.Ser398Ala)
n.1206T>G
c.1318T>G (p.Ser440Ala)
c.958T>G (p.Ser320Ala)
c.*294T>G (n.*294T>G)
c.*2440T>G (n.*2440T>G)
n.430T>G
c.544T>G (p.Ser182Ala)
c.565T>G (p.Ser189Ala)
c.712T>G (p.Ser238Ala)
n.756T>G
c.2831T>G
c.634T>G (p.Ser212Ala)
22g.17181944A>GCA410231876ADA2c.595T>C (p.Ser199Pro)
c.1192T>C (p.Ser398Pro)
n.1206T>C
c.1318T>C (p.Ser440Pro)
c.958T>C (p.Ser320Pro)
c.*294T>C (n.*294T>C)
c.*2440T>C (n.*2440T>C)
n.430T>C
c.544T>C (p.Ser182Pro)
c.565T>C (p.Ser189Pro)
c.712T>C (p.Ser238Pro)
n.756T>C
c.2831T>C
c.634T>C (p.Ser212Pro)
22g.17181944A>TCA410231877ADA2c.595T>A (p.Ser199Thr)
c.1192T>A (p.Ser398Thr)
n.1206T>A
c.1318T>A (p.Ser440Thr)
c.958T>A (p.Ser320Thr)
c.*294T>A (n.*294T>A)
c.*2440T>A (n.*2440T>A)
n.430T>A
c.544T>A (p.Ser182Thr)
c.565T>A (p.Ser189Thr)
c.712T>A (p.Ser238Thr)
n.756T>A
c.2831T>A
c.634T>A (p.Ser212Thr)
22g.17181945G>ACA512864602ADA2c.594C>T (p.Ser198=)
c.1191C>T (p.Ser397=)
n.1205C>T
c.1317C>T (p.Ser439=)
c.957C>T (p.Ser319=)
c.*293C>T (n.*293C>T)
c.*2439C>T (n.*2439C>T)
n.429C>T
c.543C>T (p.Ser181=)
c.564C>T (p.Ser188=)
c.711C>T (p.Ser237=)
n.755C>T
c.2830C>T
c.633C>T (p.Ser211=)
 ClinVar gnomAD v4
22g.17181945G>CCA410231879ADA2c.594C>G (p.Ser198Arg)
c.1191C>G (p.Ser397Arg)
n.1205C>G
c.1317C>G (p.Ser439Arg)
c.957C>G (p.Ser319Arg)
c.*293C>G (n.*293C>G)
c.*2439C>G (n.*2439C>G)
n.429C>G
c.543C>G (p.Ser181Arg)
c.564C>G (p.Ser188Arg)
c.711C>G (p.Ser237Arg)
n.755C>G
c.2830C>G
c.633C>G (p.Ser211Arg)
22g.17181945G>TCA410231880ADA2c.594C>A (p.Ser198Arg)
c.1191C>A (p.Ser397Arg)
n.1205C>A
c.1317C>A (p.Ser439Arg)
c.957C>A (p.Ser319Arg)
c.*293C>A (n.*293C>A)
c.*2439C>A (n.*2439C>A)
n.429C>A
c.543C>A (p.Ser181Arg)
c.564C>A (p.Ser188Arg)
c.711C>A (p.Ser237Arg)
n.755C>A
c.2830C>A
c.633C>A (p.Ser211Arg)
22g.17181946C>ACA410231881ADA2c.593G>T (p.Ser198Ile)
c.1190G>T (p.Ser397Ile)
n.1204G>T
c.1316G>T (p.Ser439Ile)
c.956G>T (p.Ser319Ile)
c.*292G>T (n.*292G>T)
c.*2438G>T (n.*2438G>T)
n.428G>T
c.542G>T (p.Ser181Ile)
c.563G>T (p.Ser188Ile)
c.710G>T (p.Ser237Ile)
n.754G>T
c.2829G>T
c.632G>T (p.Ser211Ile)
22g.17181946C>GCA410231882ADA2c.593G>C (p.Ser198Thr)
c.1190G>C (p.Ser397Thr)
n.1204G>C
c.1316G>C (p.Ser439Thr)
c.956G>C (p.Ser319Thr)
c.*292G>C (n.*292G>C)
c.*2438G>C (n.*2438G>C)
n.428G>C
c.542G>C (p.Ser181Thr)
c.563G>C (p.Ser188Thr)
c.710G>C (p.Ser237Thr)
n.754G>C
c.2829G>C
c.632G>C (p.Ser211Thr)
22g.17181946C>TCA410231883ADA2c.593G>A (p.Ser198Asn)
c.1190G>A (p.Ser397Asn)
n.1204G>A
c.1316G>A (p.Ser439Asn)
c.956G>A (p.Ser319Asn)
c.*292G>A (n.*292G>A)
c.*2438G>A (n.*2438G>A)
n.428G>A
c.542G>A (p.Ser181Asn)
c.563G>A (p.Ser188Asn)
c.710G>A (p.Ser237Asn)
n.754G>A
c.2829G>A
c.632G>A (p.Ser211Asn)
22g.17181947T>ACA410231884ADA2c.592A>T (p.Ser198Cys)
c.1189A>T (p.Ser397Cys)
n.1203A>T
c.1315A>T (p.Ser439Cys)
c.955A>T (p.Ser319Cys)
c.*291A>T (n.*291A>T)
c.*2437A>T (n.*2437A>T)
n.427A>T
c.541A>T (p.Ser181Cys)
c.562A>T (p.Ser188Cys)
c.709A>T (p.Ser237Cys)
n.753A>T
c.2828A>T
c.631A>T (p.Ser211Cys)
22g.17181947T>CCA10087896ADA2c.592A>G (p.Ser198Gly)
c.1189A>G (p.Ser397Gly)
n.1203A>G
c.1315A>G (p.Ser439Gly)
c.955A>G (p.Ser319Gly)
c.*291A>G (n.*291A>G)
c.*2437A>G (n.*2437A>G)
n.427A>G
c.541A>G (p.Ser181Gly)
c.562A>G (p.Ser188Gly)
c.709A>G (p.Ser237Gly)
n.753A>G
c.2828A>G
c.631A>G (p.Ser211Gly)
 dbSNP ExAC gnomAD v2
22g.17181947T>GCA410231885ADA2c.592A>C (p.Ser198Arg)
c.1189A>C (p.Ser397Arg)
n.1203A>C
c.1315A>C (p.Ser439Arg)
c.955A>C (p.Ser319Arg)
c.*291A>C (n.*291A>C)
c.*2437A>C (n.*2437A>C)
n.427A>C
c.541A>C (p.Ser181Arg)
c.562A>C (p.Ser188Arg)
c.709A>C (p.Ser237Arg)
n.753A>C
c.2828A>C
c.631A>C (p.Ser211Arg)
22g.17181947T=CA2394964058ADA2c.592A= (p.Ser198=)
c.1189A= (p.Ser397=)
n.1203A=
c.1315A= (p.Ser439=)
c.955A= (p.Ser319=)
c.*291A= (n.*291A=)
c.*2437A= (n.*2437A=)
n.427A=
c.541A= (p.Ser181=)
c.562A= (p.Ser188=)
c.709A= (p.Ser237=)
n.753A=
c.2828A=
c.631A= (p.Ser211=)
22g.17181948G>ACA512864611ADA2c.591C>T (p.Ile197=)
c.1188C>T (p.Ile396=)
n.1202C>T
c.1314C>T (p.Ile438=)
c.954C>T (p.Ile318=)
c.*290C>T (n.*290C>T)
c.*2436C>T (n.*2436C>T)
n.426C>T
c.540C>T (p.Ile180=)
c.561C>T (p.Ile187=)
c.708C>T (p.Ile236=)
n.752C>T
c.2827C>T
c.630C>T (p.Ile210=)
22g.17181948G>CCA410231886ADA2c.591C>G (p.Ile197Met)
c.1188C>G (p.Ile396Met)
n.1202C>G
c.1314C>G (p.Ile438Met)
c.954C>G (p.Ile318Met)
c.*290C>G (n.*290C>G)
c.*2436C>G (n.*2436C>G)
n.426C>G
c.540C>G (p.Ile180Met)
c.561C>G (p.Ile187Met)
c.708C>G (p.Ile236Met)
n.752C>G
c.2827C>G
c.630C>G (p.Ile210Met)
 dbSNP
22g.17181948G=CA2394964059ADA2c.591C= (p.Ile197=)
c.1188C= (p.Ile396=)
n.1202C=
c.1314C= (p.Ile438=)
c.954C= (p.Ile318=)
c.*290C= (n.*290C=)
c.*2436C= (n.*2436C=)
n.426C=
c.540C= (p.Ile180=)
c.561C= (p.Ile187=)
c.708C= (p.Ile236=)
n.752C=
c.2827C=
c.630C= (p.Ile210=)
22g.17181948G>TCA512864614ADA2c.591C>A (p.Ile197=)
c.1188C>A (p.Ile396=)
n.1202C>A
c.1314C>A (p.Ile438=)
c.954C>A (p.Ile318=)
c.*290C>A (n.*290C>A)
c.*2436C>A (n.*2436C>A)
n.426C>A
c.540C>A (p.Ile180=)
c.561C>A (p.Ile187=)
c.708C>A (p.Ile236=)
n.752C>A
c.2827C>A
c.630C>A (p.Ile210=)
22g.17181948_17181949delinsCTCA2580099066ADA2c.590_591delinsAG (p.Ile197Lys)
c.1187_1188delinsAG (p.Ile396Lys)
n.1201_1202delinsAG
c.1313_1314delinsAG (p.Ile438Lys)
c.953_954delinsAG (p.Ile318Lys)
c.*289_*290delinsAG (n.*289_*290delinsAG)
c.*2435_*2436delinsAG (n.*2435_*2436delinsAG)
n.425_426delinsAG
c.539_540delinsAG (p.Ile180Lys)
c.560_561delinsAG (p.Ile187Lys)
c.707_708delinsAG (p.Ile236Lys)
n.751_752delinsAG
c.2826_2827delinsAG
c.629_630delinsAG (p.Ile210Lys)
 ClinVar
22g.17181949A=CA2394964060ADA2c.590T= (p.Ile197=)
c.1187T= (p.Ile396=)
n.1201T=
c.1313T= (p.Ile438=)
c.953T= (p.Ile318=)
c.*289T= (n.*289T=)
c.*2435T= (n.*2435T=)
n.425T=
c.539T= (p.Ile180=)
c.560T= (p.Ile187=)
c.707T= (p.Ile236=)
n.751T=
c.2826T=
c.629T= (p.Ile210=)
22g.17181949A>CCA410231887ADA2c.590T>G (p.Ile197Ser)
c.1187T>G (p.Ile396Ser)
n.1201T>G
c.1313T>G (p.Ile438Ser)
c.953T>G (p.Ile318Ser)
c.*289T>G (n.*289T>G)
c.*2435T>G (n.*2435T>G)
n.425T>G
c.539T>G (p.Ile180Ser)
c.560T>G (p.Ile187Ser)
c.707T>G (p.Ile236Ser)
n.751T>G
c.2826T>G
c.629T>G (p.Ile210Ser)
22g.17181949A>GCA410231888ADA2c.590T>C (p.Ile197Thr)
c.1187T>C (p.Ile396Thr)
n.1201T>C
c.1313T>C (p.Ile438Thr)
c.953T>C (p.Ile318Thr)
c.*289T>C (n.*289T>C)
c.*2435T>C (n.*2435T>C)
n.425T>C
c.539T>C (p.Ile180Thr)
c.560T>C (p.Ile187Thr)
c.707T>C (p.Ile236Thr)
n.751T>C
c.2826T>C
c.629T>C (p.Ile210Thr)
22g.17181949A>TCA410231889ADA2c.590T>A (p.Ile197Asn)
c.1187T>A (p.Ile396Asn)
n.1201T>A
c.1313T>A (p.Ile438Asn)
c.953T>A (p.Ile318Asn)
c.*289T>A (n.*289T>A)
c.*2435T>A (n.*2435T>A)
n.425T>A
c.539T>A (p.Ile180Asn)
c.560T>A (p.Ile187Asn)
c.707T>A (p.Ile236Asn)
n.751T>A
c.2826T>A
c.629T>A (p.Ile210Asn)
 dbSNP
22g.17181950T>ACA410231892ADA2c.589A>T (p.Ile197Phe)
c.1186A>T (p.Ile396Phe)
n.1200A>T
c.1312A>T (p.Ile438Phe)
c.952A>T (p.Ile318Phe)
c.*288A>T (n.*288A>T)
c.*2434A>T (n.*2434A>T)
n.424A>T
c.538A>T (p.Ile180Phe)
c.559A>T (p.Ile187Phe)
c.706A>T (p.Ile236Phe)
n.750A>T
c.2825A>T
c.628A>T (p.Ile210Phe)
22g.17181950T>CCA410231891ADA2c.589A>G (p.Ile197Val)
c.1186A>G (p.Ile396Val)
n.1200A>G
c.1312A>G (p.Ile438Val)
c.952A>G (p.Ile318Val)
c.*288A>G (n.*288A>G)
c.*2434A>G (n.*2434A>G)
n.424A>G
c.538A>G (p.Ile180Val)
c.559A>G (p.Ile187Val)
c.706A>G (p.Ile236Val)
n.750A>G
c.2825A>G
c.628A>G (p.Ile210Val)
22g.17181950T>GCA410231890ADA2c.589A>C (p.Ile197Leu)
c.1186A>C (p.Ile396Leu)
n.1200A>C
c.1312A>C (p.Ile438Leu)
c.952A>C (p.Ile318Leu)
c.*288A>C (n.*288A>C)
c.*2434A>C (n.*2434A>C)
n.424A>C
c.538A>C (p.Ile180Leu)
c.559A>C (p.Ile187Leu)
c.706A>C (p.Ile236Leu)
n.750A>C
c.2825A>C
c.628A>C (p.Ile210Leu)
22g.17181951C>ACA512864622ADA2c.588G>T (p.Val196=)
c.1185G>T (p.Val395=)
n.1199G>T
c.1311G>T (p.Val437=)
c.951G>T (p.Val317=)
c.*287G>T (n.*287G>T)
c.*2433G>T (n.*2433G>T)
n.423G>T
c.537G>T (p.Val179=)
c.558G>T (p.Val186=)
c.705G>T (p.Val235=)
n.749G>T
c.2824G>T
c.627G>T (p.Val209=)
22g.17181951C>GCA512864624ADA2c.588G>C (p.Val196=)
c.1185G>C (p.Val395=)
n.1199G>C
c.1311G>C (p.Val437=)
c.951G>C (p.Val317=)
c.*287G>C (n.*287G>C)
c.*2433G>C (n.*2433G>C)
n.423G>C
c.537G>C (p.Val179=)
c.558G>C (p.Val186=)
c.705G>C (p.Val235=)
n.749G>C
c.2824G>C
c.627G>C (p.Val209=)
 gnomAD v4
22g.17181951C>TCA512864626ADA2c.588G>A (p.Val196=)
c.1185G>A (p.Val395=)
n.1199G>A
c.1311G>A (p.Val437=)
c.951G>A (p.Val317=)
c.*287G>A (n.*287G>A)
c.*2433G>A (n.*2433G>A)
n.423G>A
c.537G>A (p.Val179=)
c.558G>A (p.Val186=)
c.705G>A (p.Val235=)
n.749G>A
c.2824G>A
c.627G>A (p.Val209=)
22g.17181952A>CCA410231893ADA2c.587T>G (p.Val196Gly)
c.1184T>G (p.Val395Gly)
n.1198T>G
c.1310T>G (p.Val437Gly)
c.950T>G (p.Val317Gly)
c.*286T>G (n.*286T>G)
c.*2432T>G (n.*2432T>G)
n.422T>G
c.536T>G (p.Val179Gly)
c.557T>G (p.Val186Gly)
c.704T>G (p.Val235Gly)
n.748T>G
c.2823T>G
c.626T>G (p.Val209Gly)
22g.17181952A>GCA410231894ADA2c.587T>C (p.Val196Ala)
c.1184T>C (p.Val395Ala)
n.1198T>C
c.1310T>C (p.Val437Ala)
c.950T>C (p.Val317Ala)
c.*286T>C (n.*286T>C)
c.*2432T>C (n.*2432T>C)
n.422T>C
c.536T>C (p.Val179Ala)
c.557T>C (p.Val186Ala)
c.704T>C (p.Val235Ala)
n.748T>C
c.2823T>C
c.626T>C (p.Val209Ala)
22g.17181952A>TCA410231895ADA2c.587T>A (p.Val196Glu)
c.1184T>A (p.Val395Glu)
n.1198T>A
c.1310T>A (p.Val437Glu)
c.950T>A (p.Val317Glu)
c.*286T>A (n.*286T>A)
c.*2432T>A (n.*2432T>A)
n.422T>A
c.536T>A (p.Val179Glu)
c.557T>A (p.Val186Glu)
c.704T>A (p.Val235Glu)
n.748T>A
c.2823T>A
c.626T>A (p.Val209Glu)
22g.17181953C>ACA410231896ADA2c.586G>T (p.Val196Leu)
c.1183G>T (p.Val395Leu)
n.1197G>T
c.1309G>T (p.Val437Leu)
c.949G>T (p.Val317Leu)
c.*285G>T (n.*285G>T)
c.*2431G>T (n.*2431G>T)
n.421G>T
c.535G>T (p.Val179Leu)
c.556G>T (p.Val186Leu)
c.703G>T (p.Val235Leu)
n.747G>T
c.2822G>T
c.625G>T (p.Val209Leu)
 gnomAD v4
22g.17181953C>GCA410231897ADA2c.586G>C (p.Val196Leu)
c.1183G>C (p.Val395Leu)
n.1197G>C
c.1309G>C (p.Val437Leu)
c.949G>C (p.Val317Leu)
c.*285G>C (n.*285G>C)
c.*2431G>C (n.*2431G>C)
n.421G>C
c.535G>C (p.Val179Leu)
c.556G>C (p.Val186Leu)
c.703G>C (p.Val235Leu)
n.747G>C
c.2822G>C
c.625G>C (p.Val209Leu)
22g.17181953C>TCA410231898ADA2c.586G>A (p.Val196Met)
c.1183G>A (p.Val395Met)
n.1197G>A
c.1309G>A (p.Val437Met)
c.949G>A (p.Val317Met)
c.*285G>A (n.*285G>A)
c.*2431G>A (n.*2431G>A)
n.421G>A
c.535G>A (p.Val179Met)
c.556G>A (p.Val186Met)
c.703G>A (p.Val235Met)
n.747G>A
c.2822G>A
c.625G>A (p.Val209Met)
22g.17181954C>ACA410231901ADA2c.585G>T (p.Met195Ile)
c.1182G>T (p.Met394Ile)
n.1196G>T
c.1308G>T (p.Met436Ile)
c.948G>T (p.Met316Ile)
c.*284G>T (n.*284G>T)
c.*2430G>T (n.*2430G>T)
n.420G>T
c.534G>T (p.Met178Ile)
c.555G>T (p.Met185Ile)
c.702G>T (p.Met234Ile)
n.746G>T
c.2821G>T
c.624G>T (p.Met208Ile)
22g.17181954C>GCA410231900ADA2c.585G>C (p.Met195Ile)
c.1182G>C (p.Met394Ile)
n.1196G>C
c.1308G>C (p.Met436Ile)
c.948G>C (p.Met316Ile)
c.*284G>C (n.*284G>C)
c.*2430G>C (n.*2430G>C)
n.420G>C
c.534G>C (p.Met178Ile)
c.555G>C (p.Met185Ile)
c.702G>C (p.Met234Ile)
n.746G>C
c.2821G>C
c.624G>C (p.Met208Ile)
22g.17181954C>TCA410231899ADA2c.585G>A (p.Met195Ile)
c.1182G>A (p.Met394Ile)
n.1196G>A
c.1308G>A (p.Met436Ile)
c.948G>A (p.Met316Ile)
c.*284G>A (n.*284G>A)
c.*2430G>A (n.*2430G>A)
n.420G>A
c.534G>A (p.Met178Ile)
c.555G>A (p.Met185Ile)
c.702G>A (p.Met234Ile)
n.746G>A
c.2821G>A
c.624G>A (p.Met208Ile)
 gnomAD v4
22g.17181955A=CA2394964061ADA2c.584T= (p.Met195=)
c.1181T= (p.Met394=)
n.1195T=
c.1307T= (p.Met436=)
c.947T= (p.Met316=)
c.*283T= (n.*283T=)
c.*2429T= (n.*2429T=)
n.419T=
c.533T= (p.Met178=)
c.554T= (p.Met185=)
c.701T= (p.Met234=)
n.745T=
c.2820T=
c.623T= (p.Met208=)
22g.17181955A>CCA410231902ADA2c.584T>G (p.Met195Arg)
c.1181T>G (p.Met394Arg)
n.1195T>G
c.1307T>G (p.Met436Arg)
c.947T>G (p.Met316Arg)
c.*283T>G (n.*283T>G)
c.*2429T>G (n.*2429T>G)
n.419T>G
c.533T>G (p.Met178Arg)
c.554T>G (p.Met185Arg)
c.701T>G (p.Met234Arg)
n.745T>G
c.2820T>G
c.623T>G (p.Met208Arg)
22g.17181955A>GCA10087897ADA2c.584T>C (p.Met195Thr)
c.1181T>C (p.Met394Thr)
n.1195T>C
c.1307T>C (p.Met436Thr)
c.947T>C (p.Met316Thr)
c.*283T>C (n.*283T>C)
c.*2429T>C (n.*2429T>C)
n.419T>C
c.533T>C (p.Met178Thr)
c.554T>C (p.Met185Thr)
c.701T>C (p.Met234Thr)
n.745T>C
c.2820T>C
c.623T>C (p.Met208Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.17181955A>TCA410231903ADA2c.584T>A (p.Met195Lys)
c.1181T>A (p.Met394Lys)
n.1195T>A
c.1307T>A (p.Met436Lys)
c.947T>A (p.Met316Lys)
c.*283T>A (n.*283T>A)
c.*2429T>A (n.*2429T>A)
n.419T>A
c.533T>A (p.Met178Lys)
c.554T>A (p.Met185Lys)
c.701T>A (p.Met234Lys)
n.745T>A
c.2820T>A
c.623T>A (p.Met208Lys)
22g.17181956T>ACA410231904ADA2c.583A>T (p.Met195Leu)
c.1180A>T (p.Met394Leu)
n.1194A>T
c.1306A>T (p.Met436Leu)
c.946A>T (p.Met316Leu)
c.*282A>T (n.*282A>T)
c.*2428A>T (n.*2428A>T)
n.418A>T
c.532A>T (p.Met178Leu)
c.553A>T (p.Met185Leu)
c.700A>T (p.Met234Leu)
n.744A>T
c.2819A>T
c.622A>T (p.Met208Leu)
22g.17181956T>CCA410231905ADA2c.583A>G (p.Met195Val)
c.1180A>G (p.Met394Val)
n.1194A>G
c.1306A>G (p.Met436Val)
c.946A>G (p.Met316Val)
c.*282A>G (n.*282A>G)
c.*2428A>G (n.*2428A>G)
n.418A>G
c.532A>G (p.Met178Val)
c.553A>G (p.Met185Val)
c.700A>G (p.Met234Val)
n.744A>G
c.2819A>G
c.622A>G (p.Met208Val)
 ClinVar dbSNP gnomAD v4
22g.17181956T>GCA10087898ADA2c.583A>C (p.Met195Leu)
c.1180A>C (p.Met394Leu)
n.1194A>C
c.1306A>C (p.Met436Leu)
c.946A>C (p.Met316Leu)
c.*282A>C (n.*282A>C)
c.*2428A>C (n.*2428A>C)
n.418A>C
c.532A>C (p.Met178Leu)
c.553A>C (p.Met185Leu)
c.700A>C (p.Met234Leu)
n.744A>C
c.2819A>C
c.622A>C (p.Met208Leu)
 dbSNP ExAC gnomAD v2
22g.17181956T=CA2394964062ADA2c.583A= (p.Met195=)
c.1180A= (p.Met394=)
n.1194A=
c.1306A= (p.Met436=)
c.946A= (p.Met316=)
c.*282A= (n.*282A=)
c.*2428A= (n.*2428A=)
n.418A=
c.532A= (p.Met178=)
c.553A= (p.Met185=)
c.700A= (p.Met234=)
n.744A=
c.2819A=
c.622A= (p.Met208=)
22g.17181957G>ACA512864650ADA2c.582C>T (p.Pro194=)
c.1179C>T (p.Pro393=)
n.1193C>T
c.1305C>T (p.Pro435=)
c.945C>T (p.Pro315=)
c.*281C>T (n.*281C>T)
c.*2427C>T (n.*2427C>T)
n.417C>T
c.531C>T (p.Pro177=)
c.552C>T (p.Pro184=)
c.699C>T (p.Pro233=)
n.743C>T
c.2818C>T
c.621C>T (p.Pro207=)
22g.17181957G>CCA512864652ADA2c.582C>G (p.Pro194=)
c.1179C>G (p.Pro393=)
n.1193C>G
c.1305C>G (p.Pro435=)
c.945C>G (p.Pro315=)
c.*281C>G (n.*281C>G)
c.*2427C>G (n.*2427C>G)
n.417C>G
c.531C>G (p.Pro177=)
c.552C>G (p.Pro184=)
c.699C>G (p.Pro233=)
n.743C>G
c.2818C>G
c.621C>G (p.Pro207=)
22g.17181957G>TCA512864654ADA2c.582C>A (p.Pro194=)
c.1179C>A (p.Pro393=)
n.1193C>A
c.1305C>A (p.Pro435=)
c.945C>A (p.Pro315=)
c.*281C>A (n.*281C>A)
c.*2427C>A (n.*2427C>A)
n.417C>A
c.531C>A (p.Pro177=)
c.552C>A (p.Pro184=)
c.699C>A (p.Pro233=)
n.743C>A
c.2818C>A
c.621C>A (p.Pro207=)
22g.17181958G>ACA410231906ADA2c.581C>T (p.Pro194Leu)
c.1178C>T (p.Pro393Leu)
n.1192C>T
c.1304C>T (p.Pro435Leu)
c.944C>T (p.Pro315Leu)
c.*280C>T (n.*280C>T)
c.*2426C>T (n.*2426C>T)
n.416C>T
c.530C>T (p.Pro177Leu)
c.551C>T (p.Pro184Leu)
c.698C>T (p.Pro233Leu)
n.742C>T
c.2817C>T
c.620C>T (p.Pro207Leu)
 dbSNP gnomAD v3 gnomAD v4
22g.17181958G>CCA410231908ADA2c.581C>G (p.Pro194Arg)
c.1178C>G (p.Pro393Arg)
n.1192C>G
c.1304C>G (p.Pro435Arg)
c.944C>G (p.Pro315Arg)
c.*280C>G (n.*280C>G)
c.*2426C>G (n.*2426C>G)
n.416C>G
c.530C>G (p.Pro177Arg)
c.551C>G (p.Pro184Arg)
c.698C>G (p.Pro233Arg)
n.742C>G
c.2817C>G
c.620C>G (p.Pro207Arg)
22g.17181958G=CA2394964064ADA2c.581C= (p.Pro194=)
c.1178C= (p.Pro393=)
n.1192C=
c.1304C= (p.Pro435=)
c.944C= (p.Pro315=)
c.*280C= (n.*280C=)
c.*2426C= (n.*2426C=)
n.416C=
c.530C= (p.Pro177=)
c.551C= (p.Pro184=)
c.698C= (p.Pro233=)
n.742C=
c.2817C=
c.620C= (p.Pro207=)
22g.17181958G>TCA410231907ADA2c.581C>A (p.Pro194His)
c.1178C>A (p.Pro393His)
n.1192C>A
c.1304C>A (p.Pro435His)
c.944C>A (p.Pro315His)
c.*280C>A (n.*280C>A)
c.*2426C>A (n.*2426C>A)
n.416C>A
c.530C>A (p.Pro177His)
c.551C>A (p.Pro184His)
c.698C>A (p.Pro233His)
n.742C>A
c.2817C>A
c.620C>A (p.Pro207His)
22g.17181958_17181961delinsGGGTCA2394964063ADA2c.578_581delinsACCC (p.His193=)
c.1175_1178delinsACCC (p.His392=)
n.1189_1192delinsACCC
c.1301_1304delinsACCC (p.His434=)
c.941_944delinsACCC (p.His314=)
c.*277_*280delinsACCC (n.*277_*280delinsACCC)
c.*2423_*2426delinsACCC (n.*2423_*2426delinsACCC)
n.413_416delinsACCC
c.527_530delinsACCC (p.His176=)
c.548_551delinsACCC (p.His183=)
c.695_698delinsACCC (p.His232=)
n.739_742delinsACCC
c.2814_2817delinsACCC
c.617_620delinsACCC (p.His206=)
22g.17181959G>ACA410231909ADA2c.580C>T (p.Pro194Ser)
c.1177C>T (p.Pro393Ser)
n.1191C>T
c.1303C>T (p.Pro435Ser)
c.943C>T (p.Pro315Ser)
c.*279C>T (n.*279C>T)
c.*2425C>T (n.*2425C>T)
n.415C>T
c.529C>T (p.Pro177Ser)
c.550C>T (p.Pro184Ser)
c.697C>T (p.Pro233Ser)
n.741C>T
c.2816C>T
c.619C>T (p.Pro207Ser)
 ClinVar
22g.17181959G>CCA10087900ADA2c.580C>G (p.Pro194Ala)
c.1177C>G (p.Pro393Ala)
n.1191C>G
c.1303C>G (p.Pro435Ala)
c.943C>G (p.Pro315Ala)
c.*279C>G (n.*279C>G)
c.*2425C>G (n.*2425C>G)
n.415C>G
c.529C>G (p.Pro177Ala)
c.550C>G (p.Pro184Ala)
c.697C>G (p.Pro233Ala)
n.741C>G
c.2816C>G
c.619C>G (p.Pro207Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.17181959G=CA2394964065ADA2c.580C= (p.Pro194=)
c.1177C= (p.Pro393=)
n.1191C=
c.1303C= (p.Pro435=)
c.943C= (p.Pro315=)
c.*279C= (n.*279C=)
c.*2425C= (n.*2425C=)
n.415C=
c.529C= (p.Pro177=)
c.550C= (p.Pro184=)
c.697C= (p.Pro233=)
n.741C=
c.2816C=
c.619C= (p.Pro207=)
22g.17181959G>TCA410231910ADA2c.580C>A (p.Pro194Thr)
c.1177C>A (p.Pro393Thr)
n.1191C>A
c.1303C>A (p.Pro435Thr)
c.943C>A (p.Pro315Thr)
c.*279C>A (n.*279C>A)
c.*2425C>A (n.*2425C>A)
n.415C>A
c.529C>A (p.Pro177Thr)
c.550C>A (p.Pro184Thr)
c.697C>A (p.Pro233Thr)
n.741C>A
c.2816C>A
c.619C>A (p.Pro207Thr)
22g.17181960_17181962delCA10087899ADA2c.578_580del (p.His193del)
c.1175_1177del (p.His392del)
n.1189_1191del
c.1301_1303del (p.His434del)
c.941_943del (p.His314del)
c.*277_*279del (n.*277_*279del)
c.*2423_*2425del (n.*2423_*2425del)
n.413_415del
c.527_529del (p.His176del)
c.548_550del (p.His183del)
c.695_697del (p.His232del)
n.739_741del
c.2814_2816del
c.617_619del (p.His206del)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.17181960G>ACA321169701ADA2c.579C>T (p.His193=)
c.1176C>T (p.His392=)
n.1190C>T
c.1302C>T (p.His434=)
c.942C>T (p.His314=)
c.*278C>T (n.*278C>T)
c.*2424C>T (n.*2424C>T)
n.414C>T
c.528C>T (p.His176=)
c.549C>T (p.His183=)
c.696C>T (p.His232=)
n.740C>T
c.2815C>T
c.618C>T (p.His206=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.17181960G>CCA410231911ADA2c.579C>G (p.His193Gln)
c.1176C>G (p.His392Gln)
n.1190C>G
c.1302C>G (p.His434Gln)
c.942C>G (p.His314Gln)
c.*278C>G (n.*278C>G)
c.*2424C>G (n.*2424C>G)
n.414C>G
c.528C>G (p.His176Gln)
c.549C>G (p.His183Gln)
c.696C>G (p.His232Gln)
n.740C>G
c.2815C>G
c.618C>G (p.His206Gln)
22g.17181960G=CA2394964066ADA2c.579C= (p.His193=)
c.1176C= (p.His392=)
n.1190C=
c.1302C= (p.His434=)
c.942C= (p.His314=)
c.*278C= (n.*278C=)
c.*2424C= (n.*2424C=)
n.414C=
c.528C= (p.His176=)
c.549C= (p.His183=)
c.696C= (p.His232=)
n.740C=
c.2815C=
c.618C= (p.His206=)
22g.17181960G>TCA410231912ADA2c.579C>A (p.His193Gln)
c.1176C>A (p.His392Gln)
n.1190C>A
c.1302C>A (p.His434Gln)
c.942C>A (p.His314Gln)
c.*278C>A (n.*278C>A)
c.*2424C>A (n.*2424C>A)
n.414C>A
c.528C>A (p.His176Gln)
c.549C>A (p.His183Gln)
c.696C>A (p.His232Gln)
n.740C>A
c.2815C>A
c.618C>A (p.His206Gln)
22g.17181960_17181961delinsGTCA2394964067ADA2c.578_579delinsAC (p.His193=)
c.1175_1176delinsAC (p.His392=)
n.1189_1190delinsAC
c.1301_1302delinsAC (p.His434=)
c.941_942delinsAC (p.His314=)
c.*277_*278delinsAC (n.*277_*278delinsAC)
c.*2423_*2424delinsAC (n.*2423_*2424delinsAC)
n.413_414delinsAC
c.527_528delinsAC (p.His176=)
c.548_549delinsAC (p.His183=)
c.695_696delinsAC (p.His232=)
n.739_740delinsAC
c.2814_2815delinsAC
c.617_618delinsAC (p.His206=)
22g.17181961delCA638501455ADA2c.578del (p.His193ProfsTer4)
c.1175del (p.His392ProfsTer4)
n.1189del
c.1301del (p.His434ProfsTer4)
c.941del (p.His314ProfsTer4)
c.*277del (n.*277del)
c.*2423del (n.*2423del)
n.413del
c.527del (p.His176ProfsTer4)
c.548del (p.His183ProfsTer4)
c.695del (p.His232ProfsTer4)
n.739del
c.2814del
c.617del (p.His206ProfsTer4)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.17181961T>ACA10087901ADA2c.578A>T (p.His193Leu)
c.1175A>T (p.His392Leu)
n.1189A>T
c.1301A>T (p.His434Leu)
c.941A>T (p.His314Leu)
c.*277A>T (n.*277A>T)
c.*2423A>T (n.*2423A>T)
n.413A>T
c.527A>T (p.His176Leu)
c.548A>T (p.His183Leu)
c.695A>T (p.His232Leu)
n.739A>T
c.2814A>T
c.617A>T (p.His206Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.17181961T>CCA410231913ADA2c.578A>G (p.His193Arg)
c.1175A>G (p.His392Arg)
n.1189A>G
c.1301A>G (p.His434Arg)
c.941A>G (p.His314Arg)
c.*277A>G (n.*277A>G)
c.*2423A>G (n.*2423A>G)
n.413A>G
c.527A>G (p.His176Arg)
c.548A>G (p.His183Arg)
c.695A>G (p.His232Arg)
n.739A>G
c.2814A>G
c.617A>G (p.His206Arg)
22g.17181961T>GCA410231914ADA2c.578A>C (p.His193Pro)
c.1175A>C (p.His392Pro)
n.1189A>C
c.1301A>C (p.His434Pro)
c.941A>C (p.His314Pro)
c.*277A>C (n.*277A>C)
c.*2423A>C (n.*2423A>C)
n.413A>C
c.527A>C (p.His176Pro)
c.548A>C (p.His183Pro)
c.695A>C (p.His232Pro)
n.739A>C
c.2814A>C
c.617A>C (p.His206Pro)
 dbSNP
22g.17181961T=CA2394964068ADA2c.578A= (p.His193=)
c.1175A= (p.His392=)
n.1189A=
c.1301A= (p.His434=)
c.941A= (p.His314=)
c.*277A= (n.*277A=)
c.*2423A= (n.*2423A=)
n.413A=
c.527A= (p.His176=)
c.548A= (p.His183=)
c.695A= (p.His232=)
n.739A=
c.2814A=
c.617A= (p.His206=)
22g.17181962G>ACA410231915ADA2c.577C>T (p.His193Tyr)
c.1174C>T (p.His392Tyr)
n.1188C>T
c.1300C>T (p.His434Tyr)
c.940C>T (p.His314Tyr)
c.*276C>T (n.*276C>T)
c.*2422C>T (n.*2422C>T)
n.412C>T
c.526C>T (p.His176Tyr)
c.547C>T (p.His183Tyr)
c.694C>T (p.His232Tyr)
n.738C>T
c.2813C>T
c.616C>T (p.His206Tyr)
 gnomAD v4
22g.17181962G>CCA410231916ADA2c.577C>G (p.His193Asp)
c.1174C>G (p.His392Asp)
n.1188C>G
c.1300C>G (p.His434Asp)
c.940C>G (p.His314Asp)
c.*276C>G (n.*276C>G)
c.*2422C>G (n.*2422C>G)
n.412C>G
c.526C>G (p.His176Asp)
c.547C>G (p.His183Asp)
c.694C>G (p.His232Asp)
n.738C>G
c.2813C>G
c.616C>G (p.His206Asp)
22g.17181962G>TCA410231917ADA2c.577C>A (p.His193Asn)
c.1174C>A (p.His392Asn)
n.1188C>A
c.1300C>A (p.His434Asn)
c.940C>A (p.His314Asn)
c.*276C>A (n.*276C>A)
c.*2422C>A (n.*2422C>A)
n.412C>A
c.526C>A (p.His176Asn)
c.547C>A (p.His183Asn)
c.694C>A (p.His232Asn)
n.738C>A
c.2813C>A
c.616C>A (p.His206Asn)
22g.17181963C>ACA512864697ADA2c.576G>T (p.Gly192=)
c.1173G>T (p.Gly391=)
n.1187G>T
c.1299G>T (p.Gly433=)
c.939G>T (p.Gly313=)
c.*275G>T (n.*275G>T)
c.*2421G>T (n.*2421G>T)
n.411G>T
c.525G>T (p.Gly175=)
c.546G>T (p.Gly182=)
c.693G>T (p.Gly231=)
n.737G>T
c.2812G>T
c.615G>T (p.Gly205=)
22g.17181963C=CA2394964069ADA2c.576G= (p.Gly192=)
c.1173G= (p.Gly391=)
n.1187G=
c.1299G= (p.Gly433=)
c.939G= (p.Gly313=)
c.*275G= (n.*275G=)
c.*2421G= (n.*2421G=)
n.411G=
c.525G= (p.Gly175=)
c.546G= (p.Gly182=)
c.693G= (p.Gly231=)
n.737G=
c.2812G=
c.615G= (p.Gly205=)
22g.17181963C>GCA512864700ADA2c.576G>C (p.Gly192=)
c.1173G>C (p.Gly391=)
n.1187G>C
c.1299G>C (p.Gly433=)
c.939G>C (p.Gly313=)
c.*275G>C (n.*275G>C)
c.*2421G>C (n.*2421G>C)
n.411G>C
c.525G>C (p.Gly175=)
c.546G>C (p.Gly182=)
c.693G>C (p.Gly231=)
n.737G>C
c.2812G>C
c.615G>C (p.Gly205=)
22g.17181963C>TCA321169731ADA2c.576G>A (p.Gly192=)
c.1173G>A (p.Gly391=)
n.1187G>A
c.1299G>A (p.Gly433=)
c.939G>A (p.Gly313=)
c.*275G>A (n.*275G>A)
c.*2421G>A (n.*2421G>A)
n.411G>A
c.525G>A (p.Gly175=)
c.546G>A (p.Gly182=)
c.693G>A (p.Gly231=)
n.737G>A
c.2812G>A
c.615G>A (p.Gly205=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.17181964C>ACA410231919ADA2c.575G>T (p.Gly192Val)
c.1172G>T (p.Gly391Val)
n.1186G>T
c.1298G>T (p.Gly433Val)
c.938G>T (p.Gly313Val)
c.*274G>T (n.*274G>T)
c.*2420G>T (n.*2420G>T)
n.410G>T
c.524G>T (p.Gly175Val)
c.545G>T (p.Gly182Val)
c.692G>T (p.Gly231Val)
n.736G>T
c.2811G>T
c.614G>T (p.Gly205Val)
22g.17181964C=CA2394964070ADA2c.575G= (p.Gly192=)
c.1172G= (p.Gly391=)
n.1186G=
c.1298G= (p.Gly433=)
c.938G= (p.Gly313=)
c.*274G= (n.*274G=)
c.*2420G= (n.*2420G=)
n.410G=
c.524G= (p.Gly175=)
c.545G= (p.Gly182=)
c.692G= (p.Gly231=)
n.736G=
c.2811G=
c.614G= (p.Gly205=)
22g.17181964C>GCA410231918ADA2c.575G>C (p.Gly192Ala)
c.1172G>C (p.Gly391Ala)
n.1186G>C
c.1298G>C (p.Gly433Ala)
c.938G>C (p.Gly313Ala)
c.*274G>C (n.*274G>C)
c.*2420G>C (n.*2420G>C)
n.410G>C
c.524G>C (p.Gly175Ala)
c.545G>C (p.Gly182Ala)
c.692G>C (p.Gly231Ala)
n.736G>C
c.2811G>C
c.614G>C (p.Gly205Ala)
 dbSNP gnomAD v3 gnomAD v4
22g.17181964C>TCA410231920ADA2c.575G>A (p.Gly192Glu)
c.1172G>A (p.Gly391Glu)
n.1186G>A
c.1298G>A (p.Gly433Glu)
c.938G>A (p.Gly313Glu)
c.*274G>A (n.*274G>A)
c.*2420G>A (n.*2420G>A)
n.410G>A
c.524G>A (p.Gly175Glu)
c.545G>A (p.Gly182Glu)
c.692G>A (p.Gly231Glu)
n.736G>A
c.2811G>A
c.614G>A (p.Gly205Glu)
22g.17181965C>ACA410231921ADA2c.574G>T (p.Gly192Trp)
c.1171G>T (p.Gly391Trp)
n.1185G>T
c.1297G>T (p.Gly433Trp)
c.937G>T (p.Gly313Trp)
c.*273G>T (n.*273G>T)
c.*2419G>T (n.*2419G>T)
n.409G>T
c.523G>T (p.Gly175Trp)
c.544G>T (p.Gly182Trp)
c.691G>T (p.Gly231Trp)
n.735G>T
c.2810G>T
c.613G>T (p.Gly205Trp)
22g.17181965C>GCA410231922ADA2c.574G>C (p.Gly192Arg)
c.1171G>C (p.Gly391Arg)
n.1185G>C
c.1297G>C (p.Gly433Arg)
c.937G>C (p.Gly313Arg)
c.*273G>C (n.*273G>C)
c.*2419G>C (n.*2419G>C)
n.409G>C
c.523G>C (p.Gly175Arg)
c.544G>C (p.Gly182Arg)
c.691G>C (p.Gly231Arg)
n.735G>C
c.2810G>C
c.613G>C (p.Gly205Arg)
22g.17181965C>TCA410231923ADA2c.574G>A (p.Gly192Arg)
c.1171G>A (p.Gly391Arg)
n.1185G>A
c.1297G>A (p.Gly433Arg)
c.937G>A (p.Gly313Arg)
c.*273G>A (n.*273G>A)
c.*2419G>A (n.*2419G>A)
n.409G>A
c.523G>A (p.Gly175Arg)
c.544G>A (p.Gly182Arg)
c.691G>A (p.Gly231Arg)
n.735G>A
c.2810G>A
c.613G>A (p.Gly205Arg)
22g.17181966A=CA2394964071ADA2c.573T= (p.Thr191=)
c.1170T= (p.Thr390=)
n.1184T=
c.1296T= (p.Thr432=)
c.936T= (p.Thr312=)
c.*272T= (n.*272T=)
c.*2418T= (n.*2418T=)
n.408T=
c.522T= (p.Thr174=)
c.543T= (p.Thr181=)
c.690T= (p.Thr230=)
n.734T=
c.2809T=
c.612T= (p.Thr204=)
22g.17181966A>CCA512864720ADA2c.573T>G (p.Thr191=)
c.1170T>G (p.Thr390=)
n.1184T>G
c.1296T>G (p.Thr432=)
c.936T>G (p.Thr312=)
c.*272T>G (n.*272T>G)
c.*2418T>G (n.*2418T>G)
n.408T>G
c.522T>G (p.Thr174=)
c.543T>G (p.Thr181=)
c.690T>G (p.Thr230=)
n.734T>G
c.2809T>G
c.612T>G (p.Thr204=)
22g.17181966A>GCA512864722ADA2c.573T>C (p.Thr191=)
c.1170T>C (p.Thr390=)
n.1184T>C
c.1296T>C (p.Thr432=)
c.936T>C (p.Thr312=)
c.*272T>C (n.*272T>C)
c.*2418T>C (n.*2418T>C)
n.408T>C
c.522T>C (p.Thr174=)
c.543T>C (p.Thr181=)
c.690T>C (p.Thr230=)
n.734T>C
c.2809T>C
c.612T>C (p.Thr204=)
 dbSNP
22g.17181966A>TCA512864726ADA2c.573T>A (p.Thr191=)
c.1170T>A (p.Thr390=)
n.1184T>A
c.1296T>A (p.Thr432=)
c.936T>A (p.Thr312=)
c.*272T>A (n.*272T>A)
c.*2418T>A (n.*2418T>A)
n.408T>A
c.522T>A (p.Thr174=)
c.543T>A (p.Thr181=)
c.690T>A (p.Thr230=)
n.734T>A
c.2809T>A
c.612T>A (p.Thr204=)
22g.17181967G>ACA410231924ADA2c.572C>T (p.Thr191Ile)
c.1169C>T (p.Thr390Ile)
n.1183C>T
c.1295C>T (p.Thr432Ile)
c.935C>T (p.Thr312Ile)
c.*271C>T (n.*271C>T)
c.*2417C>T (n.*2417C>T)
n.407C>T
c.521C>T (p.Thr174Ile)
c.542C>T (p.Thr181Ile)
c.689C>T (p.Thr230Ile)
n.733C>T
c.2808C>T
c.611C>T (p.Thr204Ile)
 dbSNP gnomAD v3 gnomAD v4
22g.17181967G>CCA410231925ADA2c.572C>G (p.Thr191Ser)
c.1169C>G (p.Thr390Ser)
n.1183C>G
c.1295C>G (p.Thr432Ser)
c.935C>G (p.Thr312Ser)
c.*271C>G (n.*271C>G)
c.*2417C>G (n.*2417C>G)
n.407C>G
c.521C>G (p.Thr174Ser)
c.542C>G (p.Thr181Ser)
c.689C>G (p.Thr230Ser)
n.733C>G
c.2808C>G
c.611C>G (p.Thr204Ser)
22g.17181967G=CA2394964072ADA2c.572C= (p.Thr191=)
c.1169C= (p.Thr390=)
n.1183C=
c.1295C= (p.Thr432=)
c.935C= (p.Thr312=)
c.*271C= (n.*271C=)
c.*2417C= (n.*2417C=)
n.407C=
c.521C= (p.Thr174=)
c.542C= (p.Thr181=)
c.689C= (p.Thr230=)
n.733C=
c.2808C=
c.611C= (p.Thr204=)
22g.17181967G>TCA410231926ADA2c.572C>A (p.Thr191Asn)
c.1169C>A (p.Thr390Asn)
n.1183C>A
c.1295C>A (p.Thr432Asn)
c.935C>A (p.Thr312Asn)
c.*271C>A (n.*271C>A)
c.*2417C>A (n.*2417C>A)
n.407C>A
c.521C>A (p.Thr174Asn)
c.542C>A (p.Thr181Asn)
c.689C>A (p.Thr230Asn)
n.733C>A
c.2808C>A
c.611C>A (p.Thr204Asn)
22g.17181968T>ACA410231929ADA2c.571A>T (p.Thr191Ser)
c.1168A>T (p.Thr390Ser)
n.1182A>T
c.1294A>T (p.Thr432Ser)
c.934A>T (p.Thr312Ser)
c.*270A>T (n.*270A>T)
c.*2416A>T (n.*2416A>T)
n.406A>T
c.520A>T (p.Thr174Ser)
c.541A>T (p.Thr181Ser)
c.688A>T (p.Thr230Ser)
n.732A>T
c.2807A>T
c.610A>T (p.Thr204Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
22g.17181968T>CCA410231928ADA2c.571A>G (p.Thr191Ala)
c.1168A>G (p.Thr390Ala)
n.1182A>G
c.1294A>G (p.Thr432Ala)
c.934A>G (p.Thr312Ala)
c.*270A>G (n.*270A>G)
c.*2416A>G (n.*2416A>G)
n.406A>G
c.520A>G (p.Thr174Ala)
c.541A>G (p.Thr181Ala)
c.688A>G (p.Thr230Ala)
n.732A>G
c.2807A>G
c.610A>G (p.Thr204Ala)
 dbSNP gnomAD v3 gnomAD v4
22g.17181968T>GCA410231927ADA2c.571A>C (p.Thr191Pro)
c.1168A>C (p.Thr390Pro)
n.1182A>C
c.1294A>C (p.Thr432Pro)
c.934A>C (p.Thr312Pro)
c.*270A>C (n.*270A>C)
c.*2416A>C (n.*2416A>C)
n.406A>C
c.520A>C (p.Thr174Pro)
c.541A>C (p.Thr181Pro)
c.688A>C (p.Thr230Pro)
n.732A>C
c.2807A>C
c.610A>C (p.Thr204Pro)
22g.17181968T=CA2394964073ADA2c.571A= (p.Thr191=)
c.1168A= (p.Thr390=)
n.1182A=
c.1294A= (p.Thr432=)
c.934A= (p.Thr312=)
c.*270A= (n.*270A=)
c.*2416A= (n.*2416A=)
n.406A=
c.520A= (p.Thr174=)
c.541A= (p.Thr181=)
c.688A= (p.Thr230=)
n.732A=
c.2807A=
c.610A= (p.Thr204=)
22g.17181969G>ACA512864748ADA2c.570C>T (p.Ala190=)
c.1167C>T (p.Ala389=)
n.1181C>T
c.1293C>T (p.Ala431=)
c.933C>T (p.Ala311=)
c.*269C>T (n.*269C>T)
c.*2415C>T (n.*2415C>T)
n.405C>T
c.519C>T (p.Ala173=)
c.540C>T (p.Ala180=)
c.687C>T (p.Ala229=)
n.731C>T
c.2806C>T
c.609C>T (p.Ala203=)
22g.17181969G>CCA512864751ADA2c.570C>G (p.Ala190=)
c.1167C>G (p.Ala389=)
n.1181C>G
c.1293C>G (p.Ala431=)
c.933C>G (p.Ala311=)
c.*269C>G (n.*269C>G)
c.*2415C>G (n.*2415C>G)
n.405C>G
c.519C>G (p.Ala173=)
c.540C>G (p.Ala180=)
c.687C>G (p.Ala229=)
n.731C>G
c.2806C>G
c.609C>G (p.Ala203=)
22g.17181969G>TCA512864746ADA2c.570C>A (p.Ala190=)
c.1167C>A (p.Ala389=)
n.1181C>A
c.1293C>A (p.Ala431=)
c.933C>A (p.Ala311=)
c.*269C>A (n.*269C>A)
c.*2415C>A (n.*2415C>A)
n.405C>A
c.519C>A (p.Ala173=)
c.540C>A (p.Ala180=)
c.687C>A (p.Ala229=)
n.731C>A
c.2806C>A
c.609C>A (p.Ala203=)
22g.17181970G>ACA410231930ADA2c.569C>T (p.Ala190Val)
c.1166C>T (p.Ala389Val)
n.1180C>T
c.1292C>T (p.Ala431Val)
c.932C>T (p.Ala311Val)
c.*268C>T (n.*268C>T)
c.*2414C>T (n.*2414C>T)
n.404C>T
c.518C>T (p.Ala173Val)
c.539C>T (p.Ala180Val)
c.686C>T (p.Ala229Val)
n.730C>T
c.2805C>T
c.608C>T (p.Ala203Val)
22g.17181970G>CCA410231931ADA2c.569C>G (p.Ala190Gly)
c.1166C>G (p.Ala389Gly)
n.1180C>G
c.1292C>G (p.Ala431Gly)
c.932C>G (p.Ala311Gly)
c.*268C>G (n.*268C>G)
c.*2414C>G (n.*2414C>G)
n.404C>G
c.518C>G (p.Ala173Gly)
c.539C>G (p.Ala180Gly)
c.686C>G (p.Ala229Gly)
n.730C>G
c.2805C>G
c.608C>G (p.Ala203Gly)
22g.17181970G>TCA410231932ADA2c.569C>A (p.Ala190Asp)
c.1166C>A (p.Ala389Asp)
n.1180C>A
c.1292C>A (p.Ala431Asp)
c.932C>A (p.Ala311Asp)
c.*268C>A (n.*268C>A)
c.*2414C>A (n.*2414C>A)
n.404C>A
c.518C>A (p.Ala173Asp)
c.539C>A (p.Ala180Asp)
c.686C>A (p.Ala229Asp)
n.730C>A
c.2805C>A
c.608C>A (p.Ala203Asp)
22g.17181971C>ACA410231933ADA2c.568G>T (p.Ala190Ser)
c.1165G>T (p.Ala389Ser)
n.1179G>T
c.1291G>T (p.Ala431Ser)
c.931G>T (p.Ala311Ser)
c.*267G>T (n.*267G>T)
c.*2413G>T (n.*2413G>T)
n.403G>T
c.517G>T (p.Ala173Ser)
c.538G>T (p.Ala180Ser)
c.685G>T (p.Ala229Ser)
n.729G>T
c.2804G>T
c.607G>T (p.Ala203Ser)
 gnomAD v4
22g.17181971C>GCA410231934ADA2c.568G>C (p.Ala190Pro)
c.1165G>C (p.Ala389Pro)
n.1179G>C
c.1291G>C (p.Ala431Pro)
c.931G>C (p.Ala311Pro)
c.*267G>C (n.*267G>C)
c.*2413G>C (n.*2413G>C)
n.403G>C
c.517G>C (p.Ala173Pro)
c.538G>C (p.Ala180Pro)
c.685G>C (p.Ala229Pro)
n.729G>C
c.2804G>C
c.607G>C (p.Ala203Pro)
22g.17181971C>TCA410231935ADA2c.568G>A (p.Ala190Thr)
c.1165G>A (p.Ala389Thr)
n.1179G>A
c.1291G>A (p.Ala431Thr)
c.931G>A (p.Ala311Thr)
c.*267G>A (n.*267G>A)
c.*2413G>A (n.*2413G>A)
n.403G>A
c.517G>A (p.Ala173Thr)
c.538G>A (p.Ala180Thr)
c.685G>A (p.Ala229Thr)
n.729G>A
c.2804G>A
c.607G>A (p.Ala203Thr)
 gnomAD v4
22g.17181972C>ACA410231936ADA2c.567G>T (p.Met189Ile)
c.1164G>T (p.Met388Ile)
n.1178G>T
c.1290G>T (p.Met430Ile)
c.930G>T (p.Met310Ile)
c.*266G>T (n.*266G>T)
c.*2412G>T (n.*2412G>T)
n.402G>T
c.516G>T (p.Met172Ile)
c.537G>T (p.Met179Ile)
c.684G>T (p.Met228Ile)
n.728G>T
c.2803G>T
c.606G>T (p.Met202Ile)
22g.17181972C>GCA410231938ADA2c.567G>C (p.Met189Ile)
c.1164G>C (p.Met388Ile)
n.1178G>C
c.1290G>C (p.Met430Ile)
c.930G>C (p.Met310Ile)
c.*266G>C (n.*266G>C)
c.*2412G>C (n.*2412G>C)
n.402G>C
c.516G>C (p.Met172Ile)
c.537G>C (p.Met179Ile)
c.684G>C (p.Met228Ile)
n.728G>C
c.2803G>C
c.606G>C (p.Met202Ile)
22g.17181972C>TCA410231937ADA2c.567G>A (p.Met189Ile)
c.1164G>A (p.Met388Ile)
n.1178G>A
c.1290G>A (p.Met430Ile)
c.930G>A (p.Met310Ile)
c.*266G>A (n.*266G>A)
c.*2412G>A (n.*2412G>A)
n.402G>A
c.516G>A (p.Met172Ile)
c.537G>A (p.Met179Ile)
c.684G>A (p.Met228Ile)
n.728G>A
c.2803G>A
c.606G>A (p.Met202Ile)
 gnomAD v4
22g.17181973A>CCA410231939ADA2c.566T>G (p.Met189Arg)
c.1163T>G (p.Met388Arg)
n.1177T>G
c.1289T>G (p.Met430Arg)
c.929T>G (p.Met310Arg)
c.*265T>G (n.*265T>G)
c.*2411T>G (n.*2411T>G)
n.401T>G
c.515T>G (p.Met172Arg)
c.536T>G (p.Met179Arg)
c.683T>G (p.Met228Arg)
n.727T>G
c.2802T>G
c.605T>G (p.Met202Arg)
 gnomAD v4
22g.17181973A>GCA410231940ADA2c.566T>C (p.Met189Thr)
c.1163T>C (p.Met388Thr)
n.1177T>C
c.1289T>C (p.Met430Thr)
c.929T>C (p.Met310Thr)
c.*265T>C (n.*265T>C)
c.*2411T>C (n.*2411T>C)
n.401T>C
c.515T>C (p.Met172Thr)
c.536T>C (p.Met179Thr)
c.683T>C (p.Met228Thr)
n.727T>C
c.2802T>C
c.605T>C (p.Met202Thr)
 COSMIC COSMIC
22g.17181973A>TCA410231941ADA2c.566T>A (p.Met189Lys)
c.1163T>A (p.Met388Lys)
n.1177T>A
c.1289T>A (p.Met430Lys)
c.929T>A (p.Met310Lys)
c.*265T>A (n.*265T>A)
c.*2411T>A (n.*2411T>A)
n.401T>A
c.515T>A (p.Met172Lys)
c.536T>A (p.Met179Lys)
c.683T>A (p.Met228Lys)
n.727T>A
c.2802T>A
c.605T>A (p.Met202Lys)
22g.17181974T>ACA410231942ADA2c.565A>T (p.Met189Leu)
c.1162A>T (p.Met388Leu)
n.1176A>T
c.1288A>T (p.Met430Leu)
c.928A>T (p.Met310Leu)
c.*264A>T (n.*264A>T)
c.*2410A>T (n.*2410A>T)
n.400A>T
c.514A>T (p.Met172Leu)
c.535A>T (p.Met179Leu)
c.682A>T (p.Met228Leu)
n.726A>T
c.2801A>T
c.604A>T (p.Met202Leu)
22g.17181974T>CCA410231943ADA2c.565A>G (p.Met189Val)
c.1162A>G (p.Met388Val)
n.1176A>G
c.1288A>G (p.Met430Val)
c.928A>G (p.Met310Val)
c.*264A>G (n.*264A>G)
c.*2410A>G (n.*2410A>G)
n.400A>G
c.514A>G (p.Met172Val)
c.535A>G (p.Met179Val)
c.682A>G (p.Met228Val)
n.726A>G
c.2801A>G
c.604A>G (p.Met202Val)
22g.17181974T>GCA410231944ADA2c.565A>C (p.Met189Leu)
c.1162A>C (p.Met388Leu)
n.1176A>C
c.1288A>C (p.Met430Leu)
c.928A>C (p.Met310Leu)
c.*264A>C (n.*264A>C)
c.*2410A>C (n.*2410A>C)
n.400A>C
c.514A>C (p.Met172Leu)
c.535A>C (p.Met179Leu)
c.682A>C (p.Met228Leu)
n.726A>C
c.2801A>C
c.604A>C (p.Met202Leu)
 gnomAD v4
22g.17181975C>ACA512864793ADA2c.564G>T (p.Leu188=)
c.1161G>T (p.Leu387=)
n.1175G>T
c.1287G>T (p.Leu429=)
c.927G>T (p.Leu309=)
c.*263G>T (n.*263G>T)
c.*2409G>T (n.*2409G>T)
n.399G>T
c.513G>T (p.Leu171=)
c.534G>T (p.Leu178=)
c.681G>T (p.Leu227=)
n.725G>T
c.2800G>T
c.603G>T (p.Leu201=)
22g.17181975C>GCA512864799ADA2c.564G>C (p.Leu188=)
c.1161G>C (p.Leu387=)
n.1175G>C
c.1287G>C (p.Leu429=)
c.927G>C (p.Leu309=)
c.*263G>C (n.*263G>C)
c.*2409G>C (n.*2409G>C)
n.399G>C
c.513G>C (p.Leu171=)
c.534G>C (p.Leu178=)
c.681G>C (p.Leu227=)
n.725G>C
c.2800G>C
c.603G>C (p.Leu201=)
 gnomAD v4
22g.17181975C>TCA512864801ADA2c.564G>A (p.Leu188=)
c.1161G>A (p.Leu387=)
n.1175G>A
c.1287G>A (p.Leu429=)
c.927G>A (p.Leu309=)
c.*263G>A (n.*263G>A)
c.*2409G>A (n.*2409G>A)
n.399G>A
c.513G>A (p.Leu171=)
c.534G>A (p.Leu178=)
c.681G>A (p.Leu227=)
n.725G>A
c.2800G>A
c.603G>A (p.Leu201=)
 gnomAD v4
22g.17181976A>CCA410231945ADA2c.563T>G (p.Leu188Arg)
c.1160T>G (p.Leu387Arg)
n.1174T>G
c.1286T>G (p.Leu429Arg)
c.926T>G (p.Leu309Arg)
c.*262T>G (n.*262T>G)
c.*2408T>G (n.*2408T>G)
n.398T>G
c.512T>G (p.Leu171Arg)
c.533T>G (p.Leu178Arg)
c.680T>G (p.Leu227Arg)
n.724T>G
c.2799T>G
c.602T>G (p.Leu201Arg)
22g.17181976A>GCA410231946ADA2c.563T>C (p.Leu188Pro)
c.1160T>C (p.Leu387Pro)
n.1174T>C
c.1286T>C (p.Leu429Pro)
c.926T>C (p.Leu309Pro)
c.*262T>C (n.*262T>C)
c.*2408T>C (n.*2408T>C)
n.398T>C
c.512T>C (p.Leu171Pro)
c.533T>C (p.Leu178Pro)
c.680T>C (p.Leu227Pro)
n.724T>C
c.2799T>C
c.602T>C (p.Leu201Pro)
22g.17181976A>TCA410231947ADA2c.563T>A (p.Leu188Gln)
c.1160T>A (p.Leu387Gln)
n.1174T>A
c.1286T>A (p.Leu429Gln)
c.926T>A (p.Leu309Gln)
c.*262T>A (n.*262T>A)
c.*2408T>A (n.*2408T>A)
n.398T>A
c.512T>A (p.Leu171Gln)
c.533T>A (p.Leu178Gln)
c.680T>A (p.Leu227Gln)
n.724T>A
c.2799T>A
c.602T>A (p.Leu201Gln)
22g.17181977G>ACA512864816ADA2c.562C>T (p.Leu188=)
c.1159C>T (p.Leu387=)
n.1173C>T
c.1285C>T (p.Leu429=)
c.925C>T (p.Leu309=)
c.*261C>T (n.*261C>T)
c.*2407C>T (n.*2407C>T)
n.397C>T
c.511C>T (p.Leu171=)
c.532C>T (p.Leu178=)
c.679C>T (p.Leu227=)
n.723C>T
c.2798C>T
c.601C>T (p.Leu201=)
22g.17181977G>CCA410231948ADA2c.562C>G (p.Leu188Val)
c.1159C>G (p.Leu387Val)
n.1173C>G
c.1285C>G (p.Leu429Val)
c.925C>G (p.Leu309Val)
c.*261C>G (n.*261C>G)
c.*2407C>G (n.*2407C>G)
n.397C>G
c.511C>G (p.Leu171Val)
c.532C>G (p.Leu178Val)
c.679C>G (p.Leu227Val)
n.723C>G
c.2798C>G
c.601C>G (p.Leu201Val)
22g.17181977G>TCA410231949ADA2c.562C>A (p.Leu188Met)
c.1159C>A (p.Leu387Met)
n.1173C>A
c.1285C>A (p.Leu429Met)
c.925C>A (p.Leu309Met)
c.*261C>A (n.*261C>A)
c.*2407C>A (n.*2407C>A)
n.397C>A
c.511C>A (p.Leu171Met)
c.532C>A (p.Leu178Met)
c.679C>A (p.Leu227Met)
n.723C>A
c.2798C>A
c.601C>A (p.Leu201Met)
22g.17181978A>CCA512864820ADA2c.561T>G (p.Thr187=)
c.1158T>G (p.Thr386=)
n.1172T>G
c.1284T>G (p.Thr428=)
c.924T>G (p.Thr308=)
c.*260T>G (n.*260T>G)
c.*2406T>G (n.*2406T>G)
n.396T>G
c.510T>G (p.Thr170=)
c.531T>G (p.Thr177=)
c.678T>G (p.Thr226=)
n.722T>G
c.2797T>G
c.600T>G (p.Thr200=)
22g.17181978A>GCA512864823ADA2c.561T>C (p.Thr187=)
c.1158T>C (p.Thr386=)
n.1172T>C
c.1284T>C (p.Thr428=)
c.924T>C (p.Thr308=)
c.*260T>C (n.*260T>C)
c.*2406T>C (n.*2406T>C)
n.396T>C
c.510T>C (p.Thr170=)
c.531T>C (p.Thr177=)
c.678T>C (p.Thr226=)
n.722T>C
c.2797T>C
c.600T>C (p.Thr200=)
22g.17181978A>TCA512864827ADA2c.561T>A (p.Thr187=)
c.1158T>A (p.Thr386=)
n.1172T>A
c.1284T>A (p.Thr428=)
c.924T>A (p.Thr308=)
c.*260T>A (n.*260T>A)
c.*2406T>A (n.*2406T>A)
n.396T>A
c.510T>A (p.Thr170=)
c.531T>A (p.Thr177=)
c.678T>A (p.Thr226=)
n.722T>A
c.2797T>A
c.600T>A (p.Thr200=)
22g.17181979G>ACA410231950ADA2c.560C>T (p.Thr187Ile)
c.1157C>T (p.Thr386Ile)
n.1171C>T
c.1283C>T (p.Thr428Ile)
c.923C>T (p.Thr308Ile)
c.*259C>T (n.*259C>T)
c.*2405C>T (n.*2405C>T)
n.395C>T
c.509C>T (p.Thr170Ile)
c.530C>T (p.Thr177Ile)
c.677C>T (p.Thr226Ile)
n.721C>T
c.2796C>T
c.599C>T (p.Thr200Ile)
 ClinVar dbSNP
22g.17181979G>CCA410231952ADA2c.560C>G (p.Thr187Ser)
c.1157C>G (p.Thr386Ser)
n.1171C>G
c.1283C>G (p.Thr428Ser)
c.923C>G (p.Thr308Ser)
c.*259C>G (n.*259C>G)
c.*2405C>G (n.*2405C>G)
n.395C>G
c.509C>G (p.Thr170Ser)
c.530C>G (p.Thr177Ser)
c.677C>G (p.Thr226Ser)
n.721C>G
c.2796C>G
c.599C>G (p.Thr200Ser)
22g.17181979G>TCA410231951ADA2c.560C>A (p.Thr187Asn)
c.1157C>A (p.Thr386Asn)
n.1171C>A
c.1283C>A (p.Thr428Asn)
c.923C>A (p.Thr308Asn)
c.*259C>A (n.*259C>A)
c.*2405C>A (n.*2405C>A)
n.395C>A
c.509C>A (p.Thr170Asn)
c.530C>A (p.Thr177Asn)
c.677C>A (p.Thr226Asn)
n.721C>A
c.2796C>A
c.599C>A (p.Thr200Asn)
22g.17181980T>ACA410231953ADA2c.559A>T (p.Thr187Ser)
c.1156A>T (p.Thr386Ser)
n.1170A>T
c.1282A>T (p.Thr428Ser)
c.922A>T (p.Thr308Ser)
c.*258A>T (n.*258A>T)
c.*2404A>T (n.*2404A>T)
n.394A>T
c.508A>T (p.Thr170Ser)
c.529A>T (p.Thr177Ser)
c.676A>T (p.Thr226Ser)
n.720A>T
c.2795A>T
c.598A>T (p.Thr200Ser)
22g.17181980T>CCA410231954ADA2c.559A>G (p.Thr187Ala)
c.1156A>G (p.Thr386Ala)
n.1170A>G
c.1282A>G (p.Thr428Ala)
c.922A>G (p.Thr308Ala)
c.*258A>G (n.*258A>G)
c.*2404A>G (n.*2404A>G)
n.394A>G
c.508A>G (p.Thr170Ala)
c.529A>G (p.Thr177Ala)
c.676A>G (p.Thr226Ala)
n.720A>G
c.2795A>G
c.598A>G (p.Thr200Ala)
22g.17181980T>GCA410231955ADA2c.559A>C (p.Thr187Pro)
c.1156A>C (p.Thr386Pro)
n.1170A>C
c.1282A>C (p.Thr428Pro)
c.922A>C (p.Thr308Pro)
c.*258A>C (n.*258A>C)
c.*2404A>C (n.*2404A>C)
n.394A>C
c.508A>C (p.Thr170Pro)
c.529A>C (p.Thr177Pro)
c.676A>C (p.Thr226Pro)
n.720A>C
c.2795A>C
c.598A>C (p.Thr200Pro)
22g.17181981G>ACA512864850ADA2c.558C>T (p.Ala186=)
c.1155C>T (p.Ala385=)
n.1169C>T
c.1281C>T (p.Ala427=)
c.921C>T (p.Ala307=)
c.*257C>T (n.*257C>T)
c.*2403C>T (n.*2403C>T)
n.393C>T
c.507C>T (p.Ala169=)
c.528C>T (p.Ala176=)
c.675C>T (p.Ala225=)
n.719C>T
c.2794C>T
c.597C>T (p.Ala199=)
22g.17181981G>CCA512864847ADA2c.558C>G (p.Ala186=)
c.1155C>G (p.Ala385=)
n.1169C>G
c.1281C>G (p.Ala427=)
c.921C>G (p.Ala307=)
c.*257C>G (n.*257C>G)
c.*2403C>G (n.*2403C>G)
n.393C>G
c.507C>G (p.Ala169=)
c.528C>G (p.Ala176=)
c.675C>G (p.Ala225=)
n.719C>G
c.2794C>G
c.597C>G (p.Ala199=)
22g.17181981G>TCA512864852ADA2c.558C>A (p.Ala186=)
c.1155C>A (p.Ala385=)
n.1169C>A
c.1281C>A (p.Ala427=)
c.921C>A (p.Ala307=)
c.*257C>A (n.*257C>A)
c.*2403C>A (n.*2403C>A)
n.393C>A
c.507C>A (p.Ala169=)
c.528C>A (p.Ala176=)
c.675C>A (p.Ala225=)
n.719C>A
c.2794C>A
c.597C>A (p.Ala199=)
22g.17181982G>ACA410231956ADA2c.557C>T (p.Ala186Val)
c.1154C>T (p.Ala385Val)
n.1168C>T
c.1280C>T (p.Ala427Val)
c.920C>T (p.Ala307Val)
c.*256C>T (n.*256C>T)
c.*2402C>T (n.*2402C>T)
n.392C>T
c.506C>T (p.Ala169Val)
c.527C>T (p.Ala176Val)
c.674C>T (p.Ala225Val)
n.718C>T
c.2793C>T
c.596C>T (p.Ala199Val)
 dbSNP
22g.17181982G>CCA410231957ADA2c.557C>G (p.Ala186Gly)
c.1154C>G (p.Ala385Gly)
n.1168C>G
c.1280C>G (p.Ala427Gly)
c.920C>G (p.Ala307Gly)
c.*256C>G (n.*256C>G)
c.*2402C>G (n.*2402C>G)
n.392C>G
c.506C>G (p.Ala169Gly)
c.527C>G (p.Ala176Gly)
c.674C>G (p.Ala225Gly)
n.718C>G
c.2793C>G
c.596C>G (p.Ala199Gly)
 dbSNP gnomAD v3 gnomAD v4
22g.17181982G=CA2394964074ADA2c.557C= (p.Ala186=)
c.1154C= (p.Ala385=)
n.1168C=
c.1280C= (p.Ala427=)
c.920C= (p.Ala307=)
c.*256C= (n.*256C=)
c.*2402C= (n.*2402C=)
n.392C=
c.506C= (p.Ala169=)
c.527C= (p.Ala176=)
c.674C= (p.Ala225=)
n.718C=
c.2793C=
c.596C= (p.Ala199=)
22g.17181982G>TCA410231958ADA2c.557C>A (p.Ala186Asp)
c.1154C>A (p.Ala385Asp)
n.1168C>A
c.1280C>A (p.Ala427Asp)
c.920C>A (p.Ala307Asp)
c.*256C>A (n.*256C>A)
c.*2402C>A (n.*2402C>A)
n.392C>A
c.506C>A (p.Ala169Asp)
c.527C>A (p.Ala176Asp)
c.674C>A (p.Ala225Asp)
n.718C>A
c.2793C>A
c.596C>A (p.Ala199Asp)
 dbSNP gnomAD v2 gnomAD v4
22g.17181983C>ACA410231959ADA2c.556G>T (p.Ala186Ser)
c.1153G>T (p.Ala385Ser)
n.1167G>T
c.1279G>T (p.Ala427Ser)
c.919G>T (p.Ala307Ser)
c.*255G>T (n.*255G>T)
c.*2401G>T (n.*2401G>T)
n.391G>T
c.505G>T (p.Ala169Ser)
c.526G>T (p.Ala176Ser)
c.673G>T (p.Ala225Ser)
n.717G>T
c.2792G>T
c.595G>T (p.Ala199Ser)
22g.17181983C=CA2394964075ADA2c.556G= (p.Ala186=)
c.1153G= (p.Ala385=)
n.1167G=
c.1279G= (p.Ala427=)
c.919G= (p.Ala307=)
c.*255G= (n.*255G=)
c.*2401G= (n.*2401G=)
n.391G=
c.505G= (p.Ala169=)
c.526G= (p.Ala176=)
c.673G= (p.Ala225=)
n.717G=
c.2792G=
c.595G= (p.Ala199=)
22g.17181983C>GCA410231960ADA2c.556G>C (p.Ala186Pro)
c.1153G>C (p.Ala385Pro)
n.1167G>C
c.1279G>C (p.Ala427Pro)
c.919G>C (p.Ala307Pro)
c.*255G>C (n.*255G>C)
c.*2401G>C (n.*2401G>C)
n.391G>C
c.505G>C (p.Ala169Pro)
c.526G>C (p.Ala176Pro)
c.673G>C (p.Ala225Pro)
n.717G>C
c.2792G>C
c.595G>C (p.Ala199Pro)
22g.17181983C>TCA410231961ADA2c.556G>A (p.Ala186Thr)
c.1153G>A (p.Ala385Thr)
n.1167G>A
c.1279G>A (p.Ala427Thr)
c.919G>A (p.Ala307Thr)
c.*255G>A (n.*255G>A)
c.*2401G>A (n.*2401G>A)
n.391G>A
c.505G>A (p.Ala169Thr)
c.526G>A (p.Ala176Thr)
c.673G>A (p.Ala225Thr)
n.717G>A
c.2792G>A
c.595G>A (p.Ala199Thr)
 dbSNP
22g.17181984T>ACA512864868ADA2c.555A>T (p.Val185=)
c.1152A>T (p.Val384=)
n.1166A>T
c.1278A>T (p.Val426=)
c.918A>T (p.Val306=)
c.*254A>T (n.*254A>T)
c.*2400A>T (n.*2400A>T)
n.390A>T
c.504A>T (p.Val168=)
c.525A>T (p.Val175=)
c.672A>T (p.Val224=)
n.716A>T
c.2791A>T
c.594A>T (p.Val198=)
22g.17181984T>CCA10087902ADA2c.555A>G (p.Val185=)
c.1152A>G (p.Val384=)
n.1166A>G
c.1278A>G (p.Val426=)
c.918A>G (p.Val306=)
c.*254A>G (n.*254A>G)
c.*2400A>G (n.*2400A>G)
n.390A>G
c.504A>G (p.Val168=)
c.525A>G (p.Val175=)
c.672A>G (p.Val224=)
n.716A>G
c.2791A>G
c.594A>G (p.Val198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.17181984T>GCA512864873ADA2c.555A>C (p.Val185=)
c.1152A>C (p.Val384=)
n.1166A>C
c.1278A>C (p.Val426=)
c.918A>C (p.Val306=)
c.*254A>C (n.*254A>C)
c.*2400A>C (n.*2400A>C)
n.390A>C
c.504A>C (p.Val168=)
c.525A>C (p.Val175=)
c.672A>C (p.Val224=)
n.716A>C
c.2791A>C
c.594A>C (p.Val198=)
22g.17181984T=CA2394964076ADA2c.555A= (p.Val185=)
c.1152A= (p.Val384=)
n.1166A=
c.1278A= (p.Val426=)
c.918A= (p.Val306=)
c.*254A= (n.*254A=)
c.*2400A= (n.*2400A=)
n.390A=
c.504A= (p.Val168=)
c.525A= (p.Val175=)
c.672A= (p.Val224=)
n.716A=
c.2791A=
c.594A= (p.Val198=)
22g.17181985A=CA2394964077ADA2c.554T= (p.Val185=)
c.1151T= (p.Val384=)
n.1165T=
c.1277T= (p.Val426=)
c.917T= (p.Val306=)
c.*253T= (n.*253T=)
c.*2399T= (n.*2399T=)
n.389T=
c.503T= (p.Val168=)
c.524T= (p.Val175=)
c.671T= (p.Val224=)
n.715T=
c.2790T=
c.593T= (p.Val198=)
22g.17181985A>CCA410231962ADA2c.554T>G (p.Val185Gly)
c.1151T>G (p.Val384Gly)
n.1165T>G
c.1277T>G (p.Val426Gly)
c.917T>G (p.Val306Gly)
c.*253T>G (n.*253T>G)
c.*2399T>G (n.*2399T>G)
n.389T>G
c.503T>G (p.Val168Gly)
c.524T>G (p.Val175Gly)
c.671T>G (p.Val224Gly)
n.715T>G
c.2790T>G
c.593T>G (p.Val198Gly)
 dbSNP
22g.17181985A>GCA410231963ADA2c.554T>C (p.Val185Ala)
c.1151T>C (p.Val384Ala)
n.1165T>C
c.1277T>C (p.Val426Ala)
c.917T>C (p.Val306Ala)
c.*253T>C (n.*253T>C)
c.*2399T>C (n.*2399T>C)
n.389T>C
c.503T>C (p.Val168Ala)
c.524T>C (p.Val175Ala)
c.671T>C (p.Val224Ala)
n.715T>C
c.2790T>C
c.593T>C (p.Val198Ala)
22g.17181985A>TCA410231964ADA2c.554T>A (p.Val185Glu)
c.1151T>A (p.Val384Glu)
n.1165T>A
c.1277T>A (p.Val426Glu)
c.917T>A (p.Val306Glu)
c.*253T>A (n.*253T>A)
c.*2399T>A (n.*2399T>A)
n.389T>A
c.503T>A (p.Val168Glu)
c.524T>A (p.Val175Glu)
c.671T>A (p.Val224Glu)
n.715T>A
c.2790T>A
c.593T>A (p.Val198Glu)
22g.17181985dupCA638501457ADA2c.554dup (p.Ala186SerfsTer15)
c.1151dup (p.Ala385SerfsTer15)
n.1165dup
c.1277dup (p.Ala427SerfsTer15)
c.917dup (p.Ala307SerfsTer15)
c.*253dup (n.*253dup)
c.*2399dup (n.*2399dup)
n.389dup
c.503dup (p.Ala169SerfsTer15)
c.524dup (p.Ala176SerfsTer15)
c.671dup (p.Ala225SerfsTer15)
n.715dup
c.2790dup
c.593dup (p.Ala199SerfsTer15)
 gnomAD v2 gnomAD v4
22g.17181986C>ACA10087903ADA2c.553G>T (p.Val185Leu)
c.1150G>T (p.Val384Leu)
n.1164G>T
c.1276G>T (p.Val426Leu)
c.916G>T (p.Val306Leu)
c.*252G>T (n.*252G>T)
c.*2398G>T (n.*2398G>T)
n.388G>T
c.502G>T (p.Val168Leu)
c.523G>T (p.Val175Leu)
c.670G>T (p.Val224Leu)
n.714G>T
c.2789G>T
c.592G>T (p.Val198Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.17181986C=CA2394964079ADA2c.553G= (p.Val185=)
c.1150G= (p.Val384=)
n.1164G=
c.1276G= (p.Val426=)
c.916G= (p.Val306=)
c.*252G= (n.*252G=)
c.*2398G= (n.*2398G=)
n.388G=
c.502G= (p.Val168=)
c.523G= (p.Val175=)
c.670G= (p.Val224=)
n.714G=
c.2789G=
c.592G= (p.Val198=)
22g.17181986C>GCA410231966ADA2c.553G>C (p.Val185Leu)
c.1150G>C (p.Val384Leu)
n.1164G>C
c.1276G>C (p.Val426Leu)
c.916G>C (p.Val306Leu)
c.*252G>C (n.*252G>C)
c.*2398G>C (n.*2398G>C)
n.388G>C
c.502G>C (p.Val168Leu)
c.523G>C (p.Val175Leu)
c.670G>C (p.Val224Leu)
n.714G>C
c.2789G>C
c.592G>C (p.Val198Leu)
22g.17181986C>TCA410231965ADA2c.553G>A (p.Val185Ile)
c.1150G>A (p.Val384Ile)
n.1164G>A
c.1276G>A (p.Val426Ile)
c.916G>A (p.Val306Ile)
c.*252G>A (n.*252G>A)
c.*2398G>A (n.*2398G>A)
n.388G>A
c.502G>A (p.Val168Ile)
c.523G>A (p.Val175Ile)
c.670G>A (p.Val224Ile)
n.714G>A
c.2789G>A
c.592G>A (p.Val198Ile)
22g.17181986_17181999dupCA2394964078ADA2c.540_553dup (p.Val185GlyfsTer6)
c.1137_1150dup (p.Val384GlyfsTer6)
n.1151_1164dup
c.1263_1276dup (p.Val426GlyfsTer6)
c.903_916dup (p.Val306GlyfsTer6)
c.*239_*252dup (n.*239_*252dup)
c.*2385_*2398dup (n.*2385_*2398dup)
n.375_388dup
c.489_502dup (p.Val168GlyfsTer6)
c.510_523dup (p.Val175GlyfsTer6)
c.657_670dup (p.Val224GlyfsTer6)
n.701_714dup
c.2776_2789dup
c.579_592dup (p.Val198GlyfsTer6)
 dbSNP
22g.17181987A>CCA512864893ADA2c.552T>G (p.Pro184=)
c.1149T>G (p.Pro383=)
n.1163T>G
c.1275T>G (p.Pro425=)
c.915T>G (p.Pro305=)
c.*251T>G (n.*251T>G)
c.*2397T>G (n.*2397T>G)
n.387T>G
c.501T>G (p.Pro167=)
c.522T>G (p.Pro174=)
c.669T>G (p.Pro223=)
n.713T>G
c.2788T>G
c.591T>G (p.Pro197=)
22g.17181987A>GCA512864895ADA2c.552T>C (p.Pro184=)
c.1149T>C (p.Pro383=)
n.1163T>C
c.1275T>C (p.Pro425=)
c.915T>C (p.Pro305=)
c.*251T>C (n.*251T>C)
c.*2397T>C (n.*2397T>C)
n.387T>C
c.501T>C (p.Pro167=)
c.522T>C (p.Pro174=)
c.669T>C (p.Pro223=)
n.713T>C
c.2788T>C
c.591T>C (p.Pro197=)
22g.17181987A>TCA512864899ADA2c.552T>A (p.Pro184=)
c.1149T>A (p.Pro383=)
n.1163T>A
c.1275T>A (p.Pro425=)
c.915T>A (p.Pro305=)
c.*251T>A (n.*251T>A)
c.*2397T>A (n.*2397T>A)
n.387T>A
c.501T>A (p.Pro167=)
c.522T>A (p.Pro174=)
c.669T>A (p.Pro223=)
n.713T>A
c.2788T>A
c.591T>A (p.Pro197=)
22g.17181988G>ACA10087904ADA2c.551C>T (p.Pro184Leu)
c.1148C>T (p.Pro383Leu)
n.1162C>T
c.1274C>T (p.Pro425Leu)
c.914C>T (p.Pro305Leu)
c.*250C>T (n.*250C>T)
c.*2396C>T (n.*2396C>T)
n.386C>T
c.500C>T (p.Pro167Leu)
c.521C>T (p.Pro174Leu)
c.668C>T (p.Pro223Leu)
n.712C>T
c.2787C>T
c.590C>T (p.Pro197Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.17181988G>CCA410231967ADA2c.551C>G (p.Pro184Arg)
c.1148C>G (p.Pro383Arg)
n.1162C>G
c.1274C>G (p.Pro425Arg)
c.914C>G (p.Pro305Arg)
c.*250C>G (n.*250C>G)
c.*2396C>G (n.*2396C>G)
n.386C>G
c.500C>G (p.Pro167Arg)
c.521C>G (p.Pro174Arg)
c.668C>G (p.Pro223Arg)
n.712C>G
c.2787C>G
c.590C>G (p.Pro197Arg)
22g.17181988G=CA2394964080ADA2c.551C= (p.Pro184=)
c.1148C= (p.Pro383=)
n.1162C=
c.1274C= (p.Pro425=)
c.914C= (p.Pro305=)
c.*250C= (n.*250C=)
c.*2396C= (n.*2396C=)
n.386C=
c.500C= (p.Pro167=)
c.521C= (p.Pro174=)
c.668C= (p.Pro223=)
n.712C=
c.2787C=
c.590C= (p.Pro197=)
22g.17181988G>TCA410231968ADA2c.551C>A (p.Pro184His)
c.1148C>A (p.Pro383His)
n.1162C>A
c.1274C>A (p.Pro425His)
c.914C>A (p.Pro305His)
c.*250C>A (n.*250C>A)
c.*2396C>A (n.*2396C>A)
n.386C>A
c.500C>A (p.Pro167His)
c.521C>A (p.Pro174His)
c.668C>A (p.Pro223His)
n.712C>A
c.2787C>A
c.590C>A (p.Pro197His)
22g.17181989G>ACA410231969ADA2c.550C>T (p.Pro184Ser)
c.1147C>T (p.Pro383Ser)
n.1161C>T
c.1273C>T (p.Pro425Ser)
c.913C>T (p.Pro305Ser)
c.*249C>T (n.*249C>T)
c.*2395C>T (n.*2395C>T)
n.385C>T
c.499C>T (p.Pro167Ser)
c.520C>T (p.Pro174Ser)
c.667C>T (p.Pro223Ser)
n.711C>T
c.2786C>T
c.589C>T (p.Pro197Ser)
22g.17181989G>CCA410231970ADA2c.550C>G (p.Pro184Ala)
c.1147C>G (p.Pro383Ala)
n.1161C>G
c.1273C>G (p.Pro425Ala)
c.913C>G (p.Pro305Ala)
c.*249C>G (n.*249C>G)
c.*2395C>G (n.*2395C>G)
n.385C>G
c.499C>G (p.Pro167Ala)
c.520C>G (p.Pro174Ala)
c.667C>G (p.Pro223Ala)
n.711C>G
c.2786C>G
c.589C>G (p.Pro197Ala)
 gnomAD v4
22g.17181989G>TCA410231971ADA2c.550C>A (p.Pro184Thr)
c.1147C>A (p.Pro383Thr)
n.1161C>A
c.1273C>A (p.Pro425Thr)
c.913C>A (p.Pro305Thr)
c.*249C>A (n.*249C>A)
c.*2395C>A (n.*2395C>A)
n.385C>A
c.499C>A (p.Pro167Thr)
c.520C>A (p.Pro174Thr)
c.667C>A (p.Pro223Thr)
n.711C>A
c.2786C>A
c.589C>A (p.Pro197Thr)
22g.17181990G>ACA512864917ADA2c.549C>T (p.His183=)
c.1146C>T (p.His382=)
n.1160C>T
c.1272C>T (p.His424=)
c.912C>T (p.His304=)
c.*248C>T (n.*248C>T)
c.*2394C>T (n.*2394C>T)
n.384C>T
c.498C>T (p.His166=)
c.519C>T (p.His173=)
c.666C>T (p.His222=)
n.710C>T
c.2785C>T
c.588C>T (p.His196=)
 gnomAD v4
22g.17181990G>CCA410231972ADA2c.549C>G (p.His183Gln)
c.1146C>G (p.His382Gln)
n.1160C>G
c.1272C>G (p.His424Gln)
c.912C>G (p.His304Gln)
c.*248C>G (n.*248C>G)
c.*2394C>G (n.*2394C>G)
n.384C>G
c.498C>G (p.His166Gln)
c.519C>G (p.His173Gln)
c.666C>G (p.His222Gln)
n.710C>G
c.2785C>G
c.588C>G (p.His196Gln)
22g.17181990G>TCA410231973ADA2c.549C>A (p.His183Gln)
c.1146C>A (p.His382Gln)
n.1160C>A
c.1272C>A (p.His424Gln)
c.912C>A (p.His304Gln)
c.*248C>A (n.*248C>A)
c.*2394C>A (n.*2394C>A)
n.384C>A
c.498C>A (p.His166Gln)
c.519C>A (p.His173Gln)
c.666C>A (p.His222Gln)
n.710C>A
c.2785C>A
c.588C>A (p.His196Gln)
22g.17181991T>ACA410231974ADA2c.548A>T (p.His183Leu)
c.1145A>T (p.His382Leu)
n.1159A>T
c.1271A>T (p.His424Leu)
c.911A>T (p.His304Leu)
c.*247A>T (n.*247A>T)
c.*2393A>T (n.*2393A>T)
n.383A>T
c.497A>T (p.His166Leu)
c.518A>T (p.His173Leu)
c.665A>T (p.His222Leu)
n.709A>T
c.2784A>T
c.587A>T (p.His196Leu)
22g.17181991T>CCA410231975ADA2c.548A>G (p.His183Arg)
c.1145A>G (p.His382Arg)
n.1159A>G
c.1271A>G (p.His424Arg)
c.911A>G (p.His304Arg)
c.*247A>G (n.*247A>G)
c.*2393A>G (n.*2393A>G)
n.383A>G
c.497A>G (p.His166Arg)
c.518A>G (p.His173Arg)
c.665A>G (p.His222Arg)
n.709A>G
c.2784A>G
c.587A>G (p.His196Arg)
 ClinVar
22g.17181991T>GCA10087905ADA2c.548A>C (p.His183Pro)
c.1145A>C (p.His382Pro)
n.1159A>C
c.1271A>C (p.His424Pro)
c.911A>C (p.His304Pro)
c.*247A>C (n.*247A>C)
c.*2393A>C (n.*2393A>C)
n.383A>C
c.497A>C (p.His166Pro)
c.518A>C (p.His173Pro)
c.665A>C (p.His222Pro)
n.709A>C
c.2784A>C
c.587A>C (p.His196Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.17181991T=CA2394964081ADA2c.548A= (p.His183=)
c.1145A= (p.His382=)
n.1159A=
c.1271A= (p.His424=)
c.911A= (p.His304=)
c.*247A= (n.*247A=)
c.*2393A= (n.*2393A=)
n.383A=
c.497A= (p.His166=)
c.518A= (p.His173=)
c.665A= (p.His222=)
n.709A=
c.2784A=
c.587A= (p.His196=)
22g.17181992G>ACA410231978ADA2c.547C>T (p.His183Tyr)
c.1144C>T (p.His382Tyr)
n.1158C>T
c.1270C>T (p.His424Tyr)
c.910C>T (p.His304Tyr)
c.*246C>T (n.*246C>T)
c.*2392C>T (n.*2392C>T)
n.382C>T
c.496C>T (p.His166Tyr)
c.517C>T (p.His173Tyr)
c.664C>T (p.His222Tyr)
n.708C>T
c.2783C>T
c.586C>T (p.His196Tyr)
 dbSNP gnomAD v3 gnomAD v4
22g.17181992G>CCA410231977ADA2c.547C>G (p.His183Asp)
c.1144C>G (p.His382Asp)
n.1158C>G
c.1270C>G (p.His424Asp)
c.910C>G (p.His304Asp)
c.*246C>G (n.*246C>G)
c.*2392C>G (n.*2392C>G)
n.382C>G
c.496C>G (p.His166Asp)
c.517C>G (p.His173Asp)
c.664C>G (p.His222Asp)
n.708C>G
c.2783C>G
c.586C>G (p.His196Asp)
22g.17181992G=CA2394964082ADA2c.547C= (p.His183=)
c.1144C= (p.His382=)
n.1158C=
c.1270C= (p.His424=)
c.910C= (p.His304=)
c.*246C= (n.*246C=)
c.*2392C= (n.*2392C=)
n.382C=
c.496C= (p.His166=)
c.517C= (p.His173=)
c.664C= (p.His222=)
n.708C=
c.2783C=
c.586C= (p.His196=)
22g.17181992G>TCA410231976ADA2c.547C>A (p.His183Asn)
c.1144C>A (p.His382Asn)
n.1158C>A
c.1270C>A (p.His424Asn)
c.910C>A (p.His304Asn)
c.*246C>A (n.*246C>A)
c.*2392C>A (n.*2392C>A)
n.382C>A
c.496C>A (p.His166Asn)
c.517C>A (p.His173Asn)
c.664C>A (p.His222Asn)
n.708C>A
c.2783C>A
c.586C>A (p.His196Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.17181993G>ACA512864938ADA2c.546C>T (p.Asn182=)
c.1143C>T (p.Asn381=)
n.1157C>T
c.1269C>T (p.Asn423=)
c.909C>T (p.Asn303=)
c.*245C>T (n.*245C>T)
c.*2391C>T (n.*2391C>T)
n.381C>T
c.495C>T (p.Asn165=)
c.516C>T (p.Asn172=)
c.663C>T (p.Asn221=)
n.707C>T
c.2782C>T
c.585C>T (p.Asn195=)
 dbSNP gnomAD v2
22g.17181993G>CCA410231980ADA2c.546C>G (p.Asn182Lys)
c.1143C>G (p.Asn381Lys)
n.1157C>G
c.1269C>G (p.Asn423Lys)
c.909C>G (p.Asn303Lys)
c.*245C>G (n.*245C>G)
c.*2391C>G (n.*2391C>G)
n.381C>G
c.495C>G (p.Asn165Lys)
c.516C>G (p.Asn172Lys)
c.663C>G (p.Asn221Lys)
n.707C>G
c.2782C>G
c.585C>G (p.Asn195Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.17181993G=CA2394964083ADA2c.546C= (p.Asn182=)
c.1143C= (p.Asn381=)
n.1157C=
c.1269C= (p.Asn423=)
c.909C= (p.Asn303=)
c.*245C= (n.*245C=)
c.*2391C= (n.*2391C=)
n.381C=
c.495C= (p.Asn165=)
c.516C= (p.Asn172=)
c.663C= (p.Asn221=)
n.707C=
c.2782C=
c.585C= (p.Asn195=)
22g.17181993G>TCA410231979ADA2c.546C>A (p.Asn182Lys)
c.1143C>A (p.Asn381Lys)
n.1157C>A
c.1269C>A (p.Asn423Lys)
c.909C>A (p.Asn303Lys)
c.*245C>A (n.*245C>A)
c.*2391C>A (n.*2391C>A)
n.381C>A
c.495C>A (p.Asn165Lys)
c.516C>A (p.Asn172Lys)
c.663C>A (p.Asn221Lys)
n.707C>A
c.2782C>A
c.585C>A (p.Asn195Lys)
22g.17181994T>ACA410231983ADA2c.545A>T (p.Asn182Ile)
c.1142A>T (p.Asn381Ile)
n.1156A>T
c.1268A>T (p.Asn423Ile)
c.908A>T (p.Asn303Ile)
c.*244A>T (n.*244A>T)
c.*2390A>T (n.*2390A>T)
n.380A>T
c.494A>T (p.Asn165Ile)
c.515A>T (p.Asn172Ile)
c.662A>T (p.Asn221Ile)
n.706A>T
c.2781A>T
c.584A>T (p.Asn195Ile)
22g.17181994T>CCA410231981ADA2c.545A>G (p.Asn182Ser)
c.1142A>G (p.Asn381Ser)
n.1156A>G
c.1268A>G (p.Asn423Ser)
c.908A>G (p.Asn303Ser)
c.*244A>G (n.*244A>G)
c.*2390A>G (n.*2390A>G)
n.380A>G
c.494A>G (p.Asn165Ser)
c.515A>G (p.Asn172Ser)
c.662A>G (p.Asn221Ser)
n.706A>G
c.2781A>G
c.584A>G (p.Asn195Ser)
22g.17181994T>GCA410231982ADA2c.545A>C (p.Asn182Thr)
c.1142A>C (p.Asn381Thr)
n.1156A>C
c.1268A>C (p.Asn423Thr)
c.908A>C (p.Asn303Thr)
c.*244A>C (n.*244A>C)
c.*2390A>C (n.*2390A>C)
n.380A>C
c.494A>C (p.Asn165Thr)
c.515A>C (p.Asn172Thr)
c.662A>C (p.Asn221Thr)
n.706A>C
c.2781A>C
c.584A>C (p.Asn195Thr)
 dbSNP gnomAD v2 gnomAD v4
22g.17181994T=CA2394964084ADA2c.545A= (p.Asn182=)
c.1142A= (p.Asn381=)
n.1156A=
c.1268A= (p.Asn423=)
c.908A= (p.Asn303=)
c.*244A= (n.*244A=)
c.*2390A= (n.*2390A=)
n.380A=
c.494A= (p.Asn165=)
c.515A= (p.Asn172=)
c.662A= (p.Asn221=)
n.706A=
c.2781A=
c.584A= (p.Asn195=)
22g.17181995T>ACA410231984ADA2c.544A>T (p.Asn182Tyr)
c.1141A>T (p.Asn381Tyr)
n.1155A>T
c.1267A>T (p.Asn423Tyr)
c.907A>T (p.Asn303Tyr)
c.*243A>T (n.*243A>T)
c.*2389A>T (n.*2389A>T)
n.379A>T
c.493A>T (p.Asn165Tyr)
c.514A>T (p.Asn172Tyr)
c.661A>T (p.Asn221Tyr)
n.705A>T
c.2780A>T
c.583A>T (p.Asn195Tyr)
 COSMIC COSMIC
22g.17181995T>CCA410231985ADA2c.544A>G (p.Asn182Asp)
c.1141A>G (p.Asn381Asp)
n.1155A>G
c.1267A>G (p.Asn423Asp)
c.907A>G (p.Asn303Asp)
c.*243A>G (n.*243A>G)
c.*2389A>G (n.*2389A>G)
n.379A>G
c.493A>G (p.Asn165Asp)
c.514A>G (p.Asn172Asp)
c.661A>G (p.Asn221Asp)
n.705A>G
c.2780A>G
c.583A>G (p.Asn195Asp)
22g.17181995T>GCA410231986ADA2c.544A>C (p.Asn182His)
c.1141A>C (p.Asn381His)
n.1155A>C
c.1267A>C (p.Asn423His)
c.907A>C (p.Asn303His)
c.*243A>C (n.*243A>C)
c.*2389A>C (n.*2389A>C)
n.379A>C
c.493A>C (p.Asn165His)
c.514A>C (p.Asn172His)
c.661A>C (p.Asn221His)
n.705A>C
c.2780A>C
c.583A>C (p.Asn195His)
22g.17181996C>ACA410231987ADA2c.543G>T (p.Arg181Ser)
c.1140G>T (p.Arg380Ser)
n.1154G>T
c.1266G>T (p.Arg422Ser)
c.906G>T (p.Arg302Ser)
c.*242G>T (n.*242G>T)
c.*2388G>T (n.*2388G>T)
n.378G>T
c.492G>T (p.Arg164Ser)
c.513G>T (p.Arg171Ser)
c.660G>T (p.Arg220Ser)
n.704G>T
c.2779G>T
c.582G>T (p.Arg194Ser)
22g.17181996C>GCA410231988ADA2c.543G>C (p.Arg181Ser)
c.1140G>C (p.Arg380Ser)
n.1154G>C
c.1266G>C (p.Arg422Ser)
c.906G>C (p.Arg302Ser)
c.*242G>C (n.*242G>C)
c.*2388G>C (n.*2388G>C)
n.378G>C
c.492G>C (p.Arg164Ser)
c.513G>C (p.Arg171Ser)
c.660G>C (p.Arg220Ser)
n.704G>C
c.2779G>C
c.582G>C (p.Arg194Ser)
22g.17181996C>TCA512864960ADA2c.543G>A (p.Arg181=)
c.1140G>A (p.Arg380=)
n.1154G>A
c.1266G>A (p.Arg422=)
c.906G>A (p.Arg302=)
c.*242G>A (n.*242G>A)
c.*2388G>A (n.*2388G>A)
n.378G>A
c.492G>A (p.Arg164=)
c.513G>A (p.Arg171=)
c.660G>A (p.Arg220=)
n.704G>A
c.2779G>A
c.582G>A (p.Arg194=)
 ClinVar gnomAD v4
22g.17181997C>ACA410231989ADA2c.542G>T (p.Arg181Met)
c.1139G>T (p.Arg380Met)
n.1153G>T
c.1265G>T (p.Arg422Met)
c.905G>T (p.Arg302Met)
c.*241G>T (n.*241G>T)
c.*2387G>T (n.*2387G>T)
n.377G>T
c.491G>T (p.Arg164Met)
c.512G>T (p.Arg171Met)
c.659G>T (p.Arg220Met)
n.703G>T
c.2778G>T
c.581G>T (p.Arg194Met)
 dbSNP gnomAD v3 gnomAD v4
22g.17181997C=CA2394964085ADA2c.542G= (p.Arg181=)
c.1139G= (p.Arg380=)
n.1153G=
c.1265G= (p.Arg422=)
c.905G= (p.Arg302=)
c.*241G= (n.*241G=)
c.*2387G= (n.*2387G=)
n.377G=
c.491G= (p.Arg164=)
c.512G= (p.Arg171=)
c.659G= (p.Arg220=)
n.703G=
c.2778G=
c.581G= (p.Arg194=)
22g.17181997C>GCA410231991ADA2c.542G>C (p.Arg181Thr)
c.1139G>C (p.Arg380Thr)
n.1153G>C
c.1265G>C (p.Arg422Thr)
c.905G>C (p.Arg302Thr)
c.*241G>C (n.*241G>C)
c.*2387G>C (n.*2387G>C)
n.377G>C
c.491G>C (p.Arg164Thr)
c.512G>C (p.Arg171Thr)
c.659G>C (p.Arg220Thr)
n.703G>C
c.2778G>C
c.581G>C (p.Arg194Thr)
22g.17181997C>TCA410231990ADA2c.542G>A (p.Arg181Lys)
c.1139G>A (p.Arg380Lys)
n.1153G>A
c.1265G>A (p.Arg422Lys)
c.905G>A (p.Arg302Lys)
c.*241G>A (n.*241G>A)
c.*2387G>A (n.*2387G>A)
n.377G>A
c.491G>A (p.Arg164Lys)
c.512G>A (p.Arg171Lys)
c.659G>A (p.Arg220Lys)
n.703G>A
c.2778G>A
c.581G>A (p.Arg194Lys)
22g.17181998T>ACA410231992ADA2c.541A>T (p.Arg181Trp)
c.1138A>T (p.Arg380Trp)
n.1152A>T
c.1264A>T (p.Arg422Trp)
c.904A>T (p.Arg302Trp)
c.*240A>T (n.*240A>T)
c.*2386A>T (n.*2386A>T)
n.376A>T
c.490A>T (p.Arg164Trp)
c.511A>T (p.Arg171Trp)
c.658A>T (p.Arg220Trp)
n.702A>T
c.2777A>T
c.580A>T (p.Arg194Trp)
22g.17181998T>CCA410231993ADA2c.541A>G (p.Arg181Gly)
c.1138A>G (p.Arg380Gly)
n.1152A>G
c.1264A>G (p.Arg422Gly)
c.904A>G (p.Arg302Gly)
c.*240A>G (n.*240A>G)
c.*2386A>G (n.*2386A>G)
n.376A>G
c.490A>G (p.Arg164Gly)
c.511A>G (p.Arg171Gly)
c.658A>G (p.Arg220Gly)
n.702A>G
c.2777A>G
c.580A>G (p.Arg194Gly)
22g.17181998T>GCA512864976ADA2c.541A>C (p.Arg181=)
c.1138A>C (p.Arg380=)
n.1152A>C
c.1264A>C (p.Arg422=)
c.904A>C (p.Arg302=)
c.*240A>C (n.*240A>C)
c.*2386A>C (n.*2386A>C)
n.376A>C
c.490A>C (p.Arg164=)
c.511A>C (p.Arg171=)
c.658A>C (p.Arg220=)
n.702A>C
c.2777A>C
c.580A>C (p.Arg194=)
22g.17181999C>ACA410231994ADA2c.540G>T (p.Leu180Phe)
c.1137G>T (p.Leu379Phe)
n.1151G>T
c.1263G>T (p.Leu421Phe)
c.903G>T (p.Leu301Phe)
c.*239G>T (n.*239G>T)
c.*2385G>T (n.*2385G>T)
n.375G>T
c.489G>T (p.Leu163Phe)
c.510G>T (p.Leu170Phe)
c.657G>T (p.Leu219Phe)
n.701G>T
c.2776G>T
c.579G>T (p.Leu193Phe)
22g.17181999C>GCA410231995ADA2c.540G>C (p.Leu180Phe)
c.1137G>C (p.Leu379Phe)
n.1151G>C
c.1263G>C (p.Leu421Phe)
c.903G>C (p.Leu301Phe)
c.*239G>C (n.*239G>C)
c.*2385G>C (n.*2385G>C)
n.375G>C
c.489G>C (p.Leu163Phe)
c.510G>C (p.Leu170Phe)
c.657G>C (p.Leu219Phe)
n.701G>C
c.2776G>C
c.579G>C (p.Leu193Phe)
22g.17181999C>TCA512864984ADA2c.540G>A (p.Leu180=)
c.1137G>A (p.Leu379=)
n.1151G>A
c.1263G>A (p.Leu421=)
c.903G>A (p.Leu301=)
c.*239G>A (n.*239G>A)
c.*2385G>A (n.*2385G>A)
n.375G>A
c.489G>A (p.Leu163=)
c.510G>A (p.Leu170=)
c.657G>A (p.Leu219=)
n.701G>A
c.2776G>A
c.579G>A (p.Leu193=)
22g.17182000A>CCA410231996ADA2c.539T>G (p.Leu180Trp)
c.1136T>G (p.Leu379Trp)
n.1150T>G
c.1262T>G (p.Leu421Trp)
c.902T>G (p.Leu301Trp)
c.*238T>G (n.*238T>G)
c.*2384T>G (n.*2384T>G)
n.374T>G
c.488T>G (p.Leu163Trp)
c.509T>G (p.Leu170Trp)
c.656T>G (p.Leu219Trp)
n.700T>G
c.2775T>G
c.578T>G (p.Leu193Trp)
22g.17182000A>GCA410231998ADA2c.539T>C (p.Leu180Ser)
c.1136T>C (p.Leu379Ser)
n.1150T>C
c.1262T>C (p.Leu421Ser)
c.902T>C (p.Leu301Ser)
c.*238T>C (n.*238T>C)
c.*2384T>C (n.*2384T>C)
n.374T>C
c.488T>C (p.Leu163Ser)
c.509T>C (p.Leu170Ser)
c.656T>C (p.Leu219Ser)
n.700T>C
c.2775T>C
c.578T>C (p.Leu193Ser)
22g.17182000A>TCA410231997ADA2c.539T>A (p.Leu180Ter)
c.1136T>A (p.Leu379Ter)
n.1150T>A
c.1262T>A (p.Leu421Ter)
c.902T>A (p.Leu301Ter)
c.*238T>A (n.*238T>A)
c.*2384T>A (n.*2384T>A)
n.374T>A
c.488T>A (p.Leu163Ter)
c.509T>A (p.Leu170Ter)
c.656T>A (p.Leu219Ter)
n.700T>A
c.2775T>A
c.578T>A (p.Leu193Ter)
22g.17182001A>CCA410231999ADA2c.538T>G (p.Leu180Val)
c.1135T>G (p.Leu379Val)
n.1149T>G
c.1261T>G (p.Leu421Val)
c.901T>G (p.Leu301Val)
c.*237T>G (n.*237T>G)
c.*2383T>G (n.*2383T>G)
n.373T>G
c.487T>G (p.Leu163Val)
c.508T>G (p.Leu170Val)
c.655T>G (p.Leu219Val)
n.699T>G
c.2774T>G
c.577T>G (p.Leu193Val)
22g.17182001A>GCA512864996ADA2c.538T>C (p.Leu180=)
c.1135T>C (p.Leu379=)
n.1149T>C
c.1261T>C (p.Leu421=)
c.901T>C (p.Leu301=)
c.*237T>C (n.*237T>C)
c.*2383T>C (n.*2383T>C)
n.373T>C
c.487T>C (p.Leu163=)
c.508T>C (p.Leu170=)
c.655T>C (p.Leu219=)
n.699T>C
c.2774T>C
c.577T>C (p.Leu193=)
22g.17182001A>TCA410232000ADA2c.538T>A (p.Leu180Met)
c.1135T>A (p.Leu379Met)
n.1149T>A
c.1261T>A (p.Leu421Met)
c.901T>A (p.Leu301Met)
c.*237T>A (n.*237T>A)
c.*2383T>A (n.*2383T>A)
n.373T>A
c.487T>A (p.Leu163Met)
c.508T>A (p.Leu170Met)
c.655T>A (p.Leu219Met)
n.699T>A
c.2774T>A
c.577T>A (p.Leu193Met)
22g.17182002G>ACA512865005ADA2c.537C>T (p.Asp179=)
c.1134C>T (p.Asp378=)
n.1148C>T
c.1260C>T (p.Asp420=)
c.900C>T (p.Asp300=)
c.*236C>T (n.*236C>T)
c.*2382C>T (n.*2382C>T)
n.372C>T
c.486C>T (p.Asp162=)
c.507C>T (p.Asp169=)
c.654C>T (p.Asp218=)
n.698C>T
c.2773C>T
c.576C>T (p.Asp192=)
 gnomAD v4
22g.17182002G>CCA410232001ADA2c.537C>G (p.Asp179Glu)
c.1134C>G (p.Asp378Glu)
n.1148C>G
c.1260C>G (p.Asp420Glu)
c.900C>G (p.Asp300Glu)
c.*236C>G (n.*236C>G)
c.*2382C>G (n.*2382C>G)
n.372C>G
c.486C>G (p.Asp162Glu)
c.507C>G (p.Asp169Glu)
c.654C>G (p.Asp218Glu)
n.698C>G
c.2773C>G
c.576C>G (p.Asp192Glu)
22g.17182002G>TCA410232002ADA2c.537C>A (p.Asp179Glu)
c.1134C>A (p.Asp378Glu)
n.1148C>A
c.1260C>A (p.Asp420Glu)
c.900C>A (p.Asp300Glu)
c.*236C>A (n.*236C>A)
c.*2382C>A (n.*2382C>A)
n.372C>A
c.486C>A (p.Asp162Glu)
c.507C>A (p.Asp169Glu)
c.654C>A (p.Asp218Glu)
n.698C>A
c.2773C>A
c.576C>A (p.Asp192Glu)
22g.17182003T>ACA410232003ADA2c.536A>T (p.Asp179Val)
c.1133A>T (p.Asp378Val)
n.1147A>T
c.1259A>T (p.Asp420Val)
c.899A>T (p.Asp300Val)
c.*235A>T (n.*235A>T)
c.*2381A>T (n.*2381A>T)
n.371A>T
c.485A>T (p.Asp162Val)
c.506A>T (p.Asp169Val)
c.653A>T (p.Asp218Val)
n.697A>T
c.2772A>T
c.575A>T (p.Asp192Val)
22g.17182003T>CCA410232004ADA2c.536A>G (p.Asp179Gly)
c.1133A>G (p.Asp378Gly)
n.1147A>G
c.1259A>G (p.Asp420Gly)
c.899A>G (p.Asp300Gly)
c.*235A>G (n.*235A>G)
c.*2381A>G (n.*2381A>G)
n.371A>G
c.485A>G (p.Asp162Gly)
c.506A>G (p.Asp169Gly)
c.653A>G (p.Asp218Gly)
n.697A>G
c.2772A>G
c.575A>G (p.Asp192Gly)
22g.17182003T>GCA410232005ADA2c.536A>C (p.Asp179Ala)
c.1133A>C (p.Asp378Ala)
n.1147A>C
c.1259A>C (p.Asp420Ala)
c.899A>C (p.Asp300Ala)
c.*235A>C (n.*235A>C)
c.*2381A>C (n.*2381A>C)
n.371A>C
c.485A>C (p.Asp162Ala)
c.506A>C (p.Asp169Ala)
c.653A>C (p.Asp218Ala)
n.697A>C
c.2772A>C
c.575A>C (p.Asp192Ala)
22g.17182004C>ACA410232006ADA2c.535G>T (p.Asp179Tyr)
c.1132G>T (p.Asp378Tyr)
n.1146G>T
c.1258G>T (p.Asp420Tyr)
c.898G>T (p.Asp300Tyr)
c.*234G>T (n.*234G>T)
c.*2380G>T (n.*2380G>T)
n.370G>T
c.484G>T (p.Asp162Tyr)
c.505G>T (p.Asp169Tyr)
c.652G>T (p.Asp218Tyr)
n.696G>T
c.2771G>T
c.574G>T (p.Asp192Tyr)
22g.17182004C=CA2394964086ADA2c.535G= (p.Asp179=)
c.1132G= (p.Asp378=)
n.1146G=
c.1258G= (p.Asp420=)
c.898G= (p.Asp300=)
c.*234G= (n.*234G=)
c.*2380G= (n.*2380G=)
n.370G=
c.484G= (p.Asp162=)
c.505G= (p.Asp169=)
c.652G= (p.Asp218=)
n.696G=
c.2771G=
c.574G= (p.Asp192=)
22g.17182004C>GCA410232007ADA2c.535G>C (p.Asp179His)
c.1132G>C (p.Asp378His)
n.1146G>C
c.1258G>C (p.Asp420His)
c.898G>C (p.Asp300His)
c.*234G>C (n.*234G>C)
c.*2380G>C (n.*2380G>C)
n.370G>C
c.484G>C (p.Asp162His)
c.505G>C (p.Asp169His)
c.652G>C (p.Asp218His)
n.696G>C
c.2771G>C
c.574G>C (p.Asp192His)
22g.17182004C>TCA410232008ADA2c.535G>A (p.Asp179Asn)
c.1132G>A (p.Asp378Asn)
n.1146G>A
c.1258G>A (p.Asp420Asn)
c.898G>A (p.Asp300Asn)
c.*234G>A (n.*234G>A)
c.*2380G>A (n.*2380G>A)
n.370G>A
c.484G>A (p.Asp162Asn)
c.505G>A (p.Asp169Asn)
c.652G>A (p.Asp218Asn)
n.696G>A
c.2771G>A
c.574G>A (p.Asp192Asn)

Number of alleles fetched