Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.40121735T>ACA439140353N4BP2c.*3415T>A (n.*3415T>A)
c.3624T>A (p.Ala1208=)
c.2563T>A
c.3384T>A (p.Ala1128=)
c.4020T>A (p.Ala1340=)
n.4201T>A
4g.40121735T>CCA439140354N4BP2c.*3415T>C (n.*3415T>C)
c.3624T>C (p.Ala1208=)
c.2563T>C
c.3384T>C (p.Ala1128=)
c.4020T>C (p.Ala1340=)
n.4201T>C
 dbSNP gnomAD v4
4g.40121735T>GCA439140355N4BP2c.*3415T>G (n.*3415T>G)
c.3624T>G (p.Ala1208=)
c.2563T>G
c.3384T>G (p.Ala1128=)
c.4020T>G (p.Ala1340=)
n.4201T>G
4g.40121736G>ACA356724992N4BP2c.*3416G>A (n.*3416G>A)
c.3625G>A (p.Val1209Ile)
c.2564G>A
c.3385G>A (p.Val1129Ile)
c.4021G>A (p.Val1341Ile)
n.4202G>A
 gnomAD v4
4g.40121736G>CCA356724993N4BP2c.*3416G>C (n.*3416G>C)
c.3625G>C (p.Val1209Leu)
c.2564G>C
c.3385G>C (p.Val1129Leu)
c.4021G>C (p.Val1341Leu)
n.4202G>C
4g.40121736G>TCA356724995N4BP2c.*3416G>T (n.*3416G>T)
c.3625G>T (p.Val1209Phe)
c.2564G>T
c.3385G>T (p.Val1129Phe)
c.4021G>T (p.Val1341Phe)
n.4202G>T
4g.40121737T>ACA356724997N4BP2c.*3417T>A (n.*3417T>A)
c.3626T>A (p.Val1209Asp)
c.2565T>A
c.3386T>A (p.Val1129Asp)
c.4022T>A (p.Val1341Asp)
n.4203T>A
4g.40121737T>CCA356724999N4BP2c.*3417T>C (n.*3417T>C)
c.3626T>C (p.Val1209Ala)
c.2565T>C
c.3386T>C (p.Val1129Ala)
c.4022T>C (p.Val1341Ala)
n.4203T>C
4g.40121737T>GCA356725000N4BP2c.*3417T>G (n.*3417T>G)
c.3626T>G (p.Val1209Gly)
c.2565T>G
c.3386T>G (p.Val1129Gly)
c.4022T>G (p.Val1341Gly)
n.4203T>G
4g.40121738C>ACA439140364N4BP2c.*3418C>A (n.*3418C>A)
c.3627C>A (p.Val1209=)
c.2566C>A
c.3387C>A (p.Val1129=)
c.4023C>A (p.Val1341=)
n.4204C>A
4g.40121738C=CA1452467964N4BP2c.*3418C= (n.*3418C=)
c.3627C= (p.Val1209=)
c.2566C=
c.3387C= (p.Val1129=)
c.4023C= (p.Val1341=)
n.4204C=
4g.40121738C>GCA439140363N4BP2c.*3418C>G (n.*3418C>G)
c.3627C>G (p.Val1209=)
c.2566C>G
c.3387C>G (p.Val1129=)
c.4023C>G (p.Val1341=)
n.4204C>G
4g.40121738C>TCA439140362N4BP2c.*3418C>T (n.*3418C>T)
c.3627C>T (p.Val1209=)
c.2566C>T
c.3387C>T (p.Val1129=)
c.4023C>T (p.Val1341=)
n.4204C>T
 dbSNP gnomAD v3 gnomAD v4
4g.40121739A=CA1452467969N4BP2c.*3419A= (n.*3419A=)
c.3628A= (p.Thr1210=)
c.2567A=
c.3388A= (p.Thr1130=)
c.4024A= (p.Thr1342=)
n.4205A=
4g.40121739A>CCA356725001N4BP2c.*3419A>C (n.*3419A>C)
c.3628A>C (p.Thr1210Pro)
c.2567A>C
c.3388A>C (p.Thr1130Pro)
c.4024A>C (p.Thr1342Pro)
n.4205A>C
 gnomAD v4
4g.40121739A>GCA2897254N4BP2c.*3419A>G (n.*3419A>G)
c.3628A>G (p.Thr1210Ala)
c.2567A>G
c.3388A>G (p.Thr1130Ala)
c.4024A>G (p.Thr1342Ala)
n.4205A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.40121739A>TCA2897253N4BP2c.*3419A>T (n.*3419A>T)
c.3628A>T (p.Thr1210Ser)
c.2567A>T
c.3388A>T (p.Thr1130Ser)
c.4024A>T (p.Thr1342Ser)
n.4205A>T
 dbSNP ExAC gnomAD v2
4g.40121740C>ACA356725008N4BP2c.*3420C>A (n.*3420C>A)
c.3629C>A (p.Thr1210Asn)
c.2568C>A
c.3389C>A (p.Thr1130Asn)
c.4025C>A (p.Thr1342Asn)
n.4206C>A
4g.40121740C>GCA356725010N4BP2c.*3420C>G (n.*3420C>G)
c.3629C>G (p.Thr1210Ser)
c.2568C>G
c.3389C>G (p.Thr1130Ser)
c.4025C>G (p.Thr1342Ser)
n.4206C>G
4g.40121740C>TCA356725012N4BP2c.*3420C>T (n.*3420C>T)
c.3629C>T (p.Thr1210Ile)
c.2568C>T
c.3389C>T (p.Thr1130Ile)
c.4025C>T (p.Thr1342Ile)
n.4206C>T
4g.40121741T>ACA439140373N4BP2c.*3421T>A (n.*3421T>A)
c.3630T>A (p.Thr1210=)
c.2569T>A
c.3390T>A (p.Thr1130=)
c.4026T>A (p.Thr1342=)
n.4207T>A
 COSMIC
4g.40121741T>CCA439140374N4BP2c.*3421T>C (n.*3421T>C)
c.3630T>C (p.Thr1210=)
c.2569T>C
c.3390T>C (p.Thr1130=)
c.4026T>C (p.Thr1342=)
n.4207T>C
4g.40121741T>GCA439140375N4BP2c.*3421T>G (n.*3421T>G)
c.3630T>G (p.Thr1210=)
c.2569T>G
c.3390T>G (p.Thr1130=)
c.4026T>G (p.Thr1342=)
n.4207T>G
4g.40121742C>ACA356725015N4BP2c.*3422C>A (n.*3422C>A)
c.3631C>A (p.Pro1211Thr)
c.2570C>A
c.3391C>A (p.Pro1131Thr)
c.4027C>A (p.Pro1343Thr)
n.4208C>A
4g.40121742C=CA1452467975N4BP2c.*3422C= (n.*3422C=)
c.3631C= (p.Pro1211=)
c.2570C=
c.3391C= (p.Pro1131=)
c.4027C= (p.Pro1343=)
n.4208C=
4g.40121742C>GCA356725017N4BP2c.*3422C>G (n.*3422C>G)
c.3631C>G (p.Pro1211Ala)
c.2570C>G
c.3391C>G (p.Pro1131Ala)
c.4027C>G (p.Pro1343Ala)
n.4208C>G
 gnomAD v4
4g.40121742C>TCA2897255N4BP2c.*3422C>T (n.*3422C>T)
c.3631C>T (p.Pro1211Ser)
c.2570C>T
c.3391C>T (p.Pro1131Ser)
c.4027C>T (p.Pro1343Ser)
n.4208C>T
 dbSNP ExAC
4g.40121743C>ACA356725018N4BP2c.*3423C>A (n.*3423C>A)
c.3632C>A (p.Pro1211His)
c.2571C>A
c.3392C>A (p.Pro1131His)
c.4028C>A (p.Pro1343His)
n.4209C>A
4g.40121743C>GCA356725019N4BP2c.*3423C>G (n.*3423C>G)
c.3632C>G (p.Pro1211Arg)
c.2571C>G
c.3392C>G (p.Pro1131Arg)
c.4028C>G (p.Pro1343Arg)
n.4209C>G
4g.40121743C>TCA356725021N4BP2c.*3423C>T (n.*3423C>T)
c.3632C>T (p.Pro1211Leu)
c.2571C>T
c.3392C>T (p.Pro1131Leu)
c.4028C>T (p.Pro1343Leu)
n.4209C>T
 COSMIC
4g.40121744T>ACA439140380N4BP2c.*3424T>A (n.*3424T>A)
c.3633T>A (p.Pro1211=)
c.2572T>A
c.3393T>A (p.Pro1131=)
c.4029T>A (p.Pro1343=)
n.4210T>A
4g.40121744T>CCA439140384N4BP2c.*3424T>C (n.*3424T>C)
c.3633T>C (p.Pro1211=)
c.2572T>C
c.3393T>C (p.Pro1131=)
c.4029T>C (p.Pro1343=)
n.4210T>C
4g.40121744T>GCA439140383N4BP2c.*3424T>G (n.*3424T>G)
c.3633T>G (p.Pro1211=)
c.2572T>G
c.3393T>G (p.Pro1131=)
c.4029T>G (p.Pro1343=)
n.4210T>G
4g.40121745G>ACA356725022N4BP2c.*3425G>A (n.*3425G>A)
c.3634G>A (p.Glu1212Lys)
c.2573G>A
c.3394G>A (p.Glu1132Lys)
c.4030G>A (p.Glu1344Lys)
n.4211G>A
 gnomAD v4
4g.40121745G>CCA356725024N4BP2c.*3425G>C (n.*3425G>C)
c.3634G>C (p.Glu1212Gln)
c.2573G>C
c.3394G>C (p.Glu1132Gln)
c.4030G>C (p.Glu1344Gln)
n.4211G>C
4g.40121745G>TCA356725026N4BP2c.*3425G>T (n.*3425G>T)
c.3634G>T (p.Glu1212Ter)
c.2573G>T
c.3394G>T (p.Glu1132Ter)
c.4030G>T (p.Glu1344Ter)
n.4211G>T
4g.40121746A>CCA356725031N4BP2c.*3426A>C (n.*3426A>C)
c.3635A>C (p.Glu1212Ala)
c.2574A>C
c.3395A>C (p.Glu1132Ala)
c.4031A>C (p.Glu1344Ala)
n.4212A>C
4g.40121746A>GCA356725028N4BP2c.*3426A>G (n.*3426A>G)
c.3635A>G (p.Glu1212Gly)
c.2574A>G
c.3395A>G (p.Glu1132Gly)
c.4031A>G (p.Glu1344Gly)
n.4212A>G
4g.40121746A>TCA356725029N4BP2c.*3426A>T (n.*3426A>T)
c.3635A>T (p.Glu1212Val)
c.2574A>T
c.3395A>T (p.Glu1132Val)
c.4031A>T (p.Glu1344Val)
n.4212A>T
4g.40121747A>CCA356725033N4BP2c.*3427A>C (n.*3427A>C)
c.3636A>C (p.Glu1212Asp)
c.2575A>C
c.3396A>C (p.Glu1132Asp)
c.4032A>C (p.Glu1344Asp)
n.4213A>C
4g.40121747A>GCA439140387N4BP2c.*3427A>G (n.*3427A>G)
c.3636A>G (p.Glu1212=)
c.2575A>G
c.3396A>G (p.Glu1132=)
c.4032A>G (p.Glu1344=)
n.4213A>G
4g.40121747A>TCA356725034N4BP2c.*3427A>T (n.*3427A>T)
c.3636A>T (p.Glu1212Asp)
c.2575A>T
c.3396A>T (p.Glu1132Asp)
c.4032A>T (p.Glu1344Asp)
n.4213A>T
4g.40121748A>CCA356725036N4BP2c.*3428A>C (n.*3428A>C)
c.3637A>C (p.Asn1213His)
c.2576A>C
c.3397A>C (p.Asn1133His)
c.4033A>C (p.Asn1345His)
n.4214A>C
4g.40121748A>GCA356725038N4BP2c.*3428A>G (n.*3428A>G)
c.3637A>G (p.Asn1213Asp)
c.2576A>G
c.3397A>G (p.Asn1133Asp)
c.4033A>G (p.Asn1345Asp)
n.4214A>G
4g.40121748A>TCA356725040N4BP2c.*3428A>T (n.*3428A>T)
c.3637A>T (p.Asn1213Tyr)
c.2576A>T
c.3397A>T (p.Asn1133Tyr)
c.4033A>T (p.Asn1345Tyr)
n.4214A>T
4g.40121749A=CA1452455517N4BP2c.*3429A= (n.*3429A=)
c.3638A= (p.Asn1213=)
c.2577A=
c.3398A= (p.Asn1133=)
c.4034A= (p.Asn1345=)
n.4215A=
4g.40121749A>CCA356725046N4BP2c.*3429A>C (n.*3429A>C)
c.3638A>C (p.Asn1213Thr)
c.2577A>C
c.3398A>C (p.Asn1133Thr)
c.4034A>C (p.Asn1345Thr)
n.4215A>C
 gnomAD v4
4g.40121749A>GCA356725043N4BP2c.*3429A>G (n.*3429A>G)
c.3638A>G (p.Asn1213Ser)
c.2577A>G
c.3398A>G (p.Asn1133Ser)
c.4034A>G (p.Asn1345Ser)
n.4215A>G
 dbSNP gnomAD v3 gnomAD v4
4g.40121749A>TCA356725044N4BP2c.*3429A>T (n.*3429A>T)
c.3638A>T (p.Asn1213Ile)
c.2577A>T
c.3398A>T (p.Asn1133Ile)
c.4034A>T (p.Asn1345Ile)
n.4215A>T
 gnomAD v4
4g.40121750C>ACA356725050N4BP2c.*3430C>A (n.*3430C>A)
c.3639C>A (p.Asn1213Lys)
c.2578C>A
c.3399C>A (p.Asn1133Lys)
c.4035C>A (p.Asn1345Lys)
n.4216C>A
4g.40121750C=CA1452455525N4BP2c.*3430C= (n.*3430C=)
c.3639C= (p.Asn1213=)
c.2578C=
c.3399C= (p.Asn1133=)
c.4035C= (p.Asn1345=)
n.4216C=
4g.40121750C>GCA356725052N4BP2c.*3430C>G (n.*3430C>G)
c.3639C>G (p.Asn1213Lys)
c.2578C>G
c.3399C>G (p.Asn1133Lys)
c.4035C>G (p.Asn1345Lys)
n.4216C>G
4g.40121750C>TCA439140392N4BP2c.*3430C>T (n.*3430C>T)
c.3639C>T (p.Asn1213=)
c.2578C>T
c.3399C>T (p.Asn1133=)
c.4035C>T (p.Asn1345=)
n.4216C>T
 dbSNP gnomAD v2 gnomAD v4
4g.40121751C>ACA356725054N4BP2c.*3431C>A (n.*3431C>A)
c.3640C>A (p.His1214Asn)
c.2579C>A
c.3400C>A (p.His1134Asn)
c.4036C>A (p.His1346Asn)
n.4217C>A
 gnomAD v4
4g.40121751C=CA1452455529N4BP2c.*3431C= (n.*3431C=)
c.3640C= (p.His1214=)
c.2579C=
c.3400C= (p.His1134=)
c.4036C= (p.His1346=)
n.4217C=
4g.40121751C>GCA356725055N4BP2c.*3431C>G (n.*3431C>G)
c.3640C>G (p.His1214Asp)
c.2579C>G
c.3400C>G (p.His1134Asp)
c.4036C>G (p.His1346Asp)
n.4217C>G
4g.40121751C>TCA95750330N4BP2c.*3431C>T (n.*3431C>T)
c.3640C>T (p.His1214Tyr)
c.2579C>T
c.3400C>T (p.His1134Tyr)
c.4036C>T (p.His1346Tyr)
n.4217C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.40121752A=CA1452455532N4BP2c.*3432A= (n.*3432A=)
c.3641A= (p.His1214=)
c.2580A=
c.3401A= (p.His1134=)
c.4037A= (p.His1346=)
n.4218A=
4g.40121752A>CCA356725056N4BP2c.*3432A>C (n.*3432A>C)
c.3641A>C (p.His1214Pro)
c.2580A>C
c.3401A>C (p.His1134Pro)
c.4037A>C (p.His1346Pro)
n.4218A>C
4g.40121752A>GCA356725057N4BP2c.*3432A>G (n.*3432A>G)
c.3641A>G (p.His1214Arg)
c.2580A>G
c.3401A>G (p.His1134Arg)
c.4037A>G (p.His1346Arg)
n.4218A>G
 gnomAD v4
4g.40121752A>TCA2897256N4BP2c.*3432A>T (n.*3432A>T)
c.3641A>T (p.His1214Leu)
c.2580A>T
c.3401A>T (p.His1134Leu)
c.4037A>T (p.His1346Leu)
n.4218A>T
 dbSNP ExAC gnomAD v2
4g.40121753T>ACA356725060N4BP2c.*3433T>A (n.*3433T>A)
c.3642T>A (p.His1214Gln)
c.2581T>A
c.3402T>A (p.His1134Gln)
c.4038T>A (p.His1346Gln)
n.4219T>A
4g.40121753T>CCA2897257N4BP2c.*3433T>C (n.*3433T>C)
c.3642T>C (p.His1214=)
c.2581T>C
c.3402T>C (p.His1134=)
c.4038T>C (p.His1346=)
n.4219T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.40121753T>GCA356725065N4BP2c.*3433T>G (n.*3433T>G)
c.3642T>G (p.His1214Gln)
c.2581T>G
c.3402T>G (p.His1134Gln)
c.4038T>G (p.His1346Gln)
n.4219T>G
4g.40121753T=CA1452455534N4BP2c.*3433T= (n.*3433T=)
c.3642T= (p.His1214=)
c.2581T=
c.3402T= (p.His1134=)
c.4038T= (p.His1346=)
n.4219T=
4g.40121754G>ACA356725067N4BP2c.*3434G>A (n.*3434G>A)
c.3643G>A (p.Glu1215Lys)
c.2582G>A
c.3403G>A (p.Glu1135Lys)
c.4039G>A (p.Glu1347Lys)
n.4220G>A
 dbSNP
4g.40121754G>CCA356725069N4BP2c.*3434G>C (n.*3434G>C)
c.3643G>C (p.Glu1215Gln)
c.2582G>C
c.3403G>C (p.Glu1135Gln)
c.4039G>C (p.Glu1347Gln)
n.4220G>C
4g.40121754G=CA1452455538N4BP2c.*3434G= (n.*3434G=)
c.3643G= (p.Glu1215=)
c.2582G=
c.3403G= (p.Glu1135=)
c.4039G= (p.Glu1347=)
n.4220G=
4g.40121754G>TCA356725070N4BP2c.*3434G>T (n.*3434G>T)
c.3643G>T (p.Glu1215Ter)
c.2582G>T
c.3403G>T (p.Glu1135Ter)
c.4039G>T (p.Glu1347Ter)
n.4220G>T
4g.40121755A>CCA356725072N4BP2c.*3435A>C (n.*3435A>C)
c.3644A>C (p.Glu1215Ala)
c.2583A>C
c.3404A>C (p.Glu1135Ala)
c.4040A>C (p.Glu1347Ala)
n.4221A>C
 gnomAD v4
4g.40121755A>GCA356725073N4BP2c.*3435A>G (n.*3435A>G)
c.3644A>G (p.Glu1215Gly)
c.2583A>G
c.3404A>G (p.Glu1135Gly)
c.4040A>G (p.Glu1347Gly)
n.4221A>G
4g.40121755A>TCA356725074N4BP2c.*3435A>T (n.*3435A>T)
c.3644A>T (p.Glu1215Val)
c.2583A>T
c.3404A>T (p.Glu1135Val)
c.4040A>T (p.Glu1347Val)
n.4221A>T
4g.40121756A=CA1452455542N4BP2c.*3436A= (n.*3436A=)
c.3645A= (p.Glu1215=)
c.2584A=
c.3405A= (p.Glu1135=)
c.4041A= (p.Glu1347=)
n.4222A=
4g.40121756A>CCA2897258N4BP2c.*3436A>C (n.*3436A>C)
c.3645A>C (p.Glu1215Asp)
c.2584A>C
c.3405A>C (p.Glu1135Asp)
c.4041A>C (p.Glu1347Asp)
n.4222A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.40121756A>GCA439140405N4BP2c.*3436A>G (n.*3436A>G)
c.3645A>G (p.Glu1215=)
c.2584A>G
c.3405A>G (p.Glu1135=)
c.4041A>G (p.Glu1347=)
n.4222A>G
4g.40121756A>TCA356725078N4BP2c.*3436A>T (n.*3436A>T)
c.3645A>T (p.Glu1215Asp)
c.2584A>T
c.3405A>T (p.Glu1135Asp)
c.4041A>T (p.Glu1347Asp)
n.4222A>T
4g.40121757T>ACA356725081N4BP2c.*3437T>A (n.*3437T>A)
c.3646T>A (p.Ser1216Thr)
c.2585T>A
c.3406T>A (p.Ser1136Thr)
c.4042T>A (p.Ser1348Thr)
n.4223T>A
 dbSNP
4g.40121757T>CCA356725083N4BP2c.*3437T>C (n.*3437T>C)
c.3646T>C (p.Ser1216Pro)
c.2585T>C
c.3406T>C (p.Ser1136Pro)
c.4042T>C (p.Ser1348Pro)
n.4223T>C
4g.40121757T>GCA2897259N4BP2c.*3437T>G (n.*3437T>G)
c.3646T>G (p.Ser1216Ala)
c.2585T>G
c.3406T>G (p.Ser1136Ala)
c.4042T>G (p.Ser1348Ala)
n.4223T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.40121757T=CA1452455550N4BP2c.*3437T= (n.*3437T=)
c.3646T= (p.Ser1216=)
c.2585T=
c.3406T= (p.Ser1136=)
c.4042T= (p.Ser1348=)
n.4223T=
4g.40121758C>ACA356725086N4BP2c.*3438C>A (n.*3438C>A)
c.3647C>A (p.Ser1216Ter)
c.2586C>A
c.3407C>A (p.Ser1136Ter)
c.4043C>A (p.Ser1348Ter)
n.4224C>A
4g.40121758C=CA1452455560N4BP2c.*3438C= (n.*3438C=)
c.3647C= (p.Ser1216=)
c.2586C=
c.3407C= (p.Ser1136=)
c.4043C= (p.Ser1348=)
n.4224C=
4g.40121758C>GCA356725088N4BP2c.*3438C>G (n.*3438C>G)
c.3647C>G (p.Ser1216Trp)
c.2586C>G
c.3407C>G (p.Ser1136Trp)
c.4043C>G (p.Ser1348Trp)
n.4224C>G
4g.40121758C>TCA2897260N4BP2c.*3438C>T (n.*3438C>T)
c.3647C>T (p.Ser1216Leu)
c.2586C>T
c.3407C>T (p.Ser1136Leu)
c.4043C>T (p.Ser1348Leu)
n.4224C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.40121759G>ACA95750354N4BP2c.*3439G>A (n.*3439G>A)
c.3648G>A (p.Ser1216=)
c.2587G>A
c.3408G>A (p.Ser1136=)
c.4044G>A (p.Ser1348=)
n.4225G>A
 dbSNP gnomAD v3 gnomAD v4
4g.40121759G>CCA439140410N4BP2c.*3439G>C (n.*3439G>C)
c.3648G>C (p.Ser1216=)
c.2587G>C
c.3408G>C (p.Ser1136=)
c.4044G>C (p.Ser1348=)
n.4225G>C
 dbSNP gnomAD v3 gnomAD v4
4g.40121759G=CA1452455571N4BP2c.*3439G= (n.*3439G=)
c.3648G= (p.Ser1216=)
c.2587G=
c.3408G= (p.Ser1136=)
c.4044G= (p.Ser1348=)
n.4225G=
4g.40121759G>TCA2897261N4BP2c.*3439G>T (n.*3439G>T)
c.3648G>T (p.Ser1216=)
c.2587G>T
c.3408G>T (p.Ser1136=)
c.4044G>T (p.Ser1348=)
n.4225G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.40121761_40121763delCA2578071767N4BP2c.*3441_*3443del (n.*3441_*3443del)
c.3650_3652del (p.Met1217del)
c.2589_2591del
c.3410_3412del (p.Met1137del)
c.4046_4048del (p.Met1349del)
n.4227_4229del
 gnomAD v4
4g.40121760A=CA1452455579N4BP2c.*3440A= (n.*3440A=)
c.3649A= (p.Met1217=)
c.2588A=
c.3409A= (p.Met1137=)
c.4045A= (p.Met1349=)
n.4226A=
4g.40121760A>CCA356725092N4BP2c.*3440A>C (n.*3440A>C)
c.3649A>C (p.Met1217Leu)
c.2588A>C
c.3409A>C (p.Met1137Leu)
c.4045A>C (p.Met1349Leu)
n.4226A>C
4g.40121760A>GCA2897262N4BP2c.*3440A>G (n.*3440A>G)
c.3649A>G (p.Met1217Val)
c.2588A>G
c.3409A>G (p.Met1137Val)
c.4045A>G (p.Met1349Val)
n.4226A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.40121760A>TCA356725094N4BP2c.*3440A>T (n.*3440A>T)
c.3649A>T (p.Met1217Leu)
c.2588A>T
c.3409A>T (p.Met1137Leu)
c.4045A>T (p.Met1349Leu)
n.4226A>T
4g.40121761T>ACA356725098N4BP2c.*3441T>A (n.*3441T>A)
c.3650T>A (p.Met1217Lys)
c.2589T>A
c.3410T>A (p.Met1137Lys)
c.4046T>A (p.Met1349Lys)
n.4227T>A
4g.40121761T>CCA356725096N4BP2c.*3441T>C (n.*3441T>C)
c.3650T>C (p.Met1217Thr)
c.2589T>C
c.3410T>C (p.Met1137Thr)
c.4046T>C (p.Met1349Thr)
n.4227T>C
4g.40121761T>GCA356725095N4BP2c.*3441T>G (n.*3441T>G)
c.3650T>G (p.Met1217Arg)
c.2589T>G
c.3410T>G (p.Met1137Arg)
c.4046T>G (p.Met1349Arg)
n.4227T>G
4g.40121762G>ACA356725099N4BP2c.*3442G>A (n.*3442G>A)
c.3651G>A (p.Met1217Ile)
c.2590G>A
c.3411G>A (p.Met1137Ile)
c.4047G>A (p.Met1349Ile)
n.4228G>A
4g.40121762G>CCA356725100N4BP2c.*3442G>C (n.*3442G>C)
c.3651G>C (p.Met1217Ile)
c.2590G>C
c.3411G>C (p.Met1137Ile)
c.4047G>C (p.Met1349Ile)
n.4228G>C
4g.40121762G>TCA356725101N4BP2c.*3442G>T (n.*3442G>T)
c.3651G>T (p.Met1217Ile)
c.2590G>T
c.3411G>T (p.Met1137Ile)
c.4047G>T (p.Met1349Ile)
n.4228G>T
4g.40121763A>CCA356725102N4BP2c.*3443A>C (n.*3443A>C)
c.3652A>C (p.Thr1218Pro)
c.2591A>C
c.3412A>C (p.Thr1138Pro)
c.4048A>C (p.Thr1350Pro)
n.4229A>C
4g.40121763A>GCA356725103N4BP2c.*3443A>G (n.*3443A>G)
c.3652A>G (p.Thr1218Ala)
c.2591A>G
c.3412A>G (p.Thr1138Ala)
c.4048A>G (p.Thr1350Ala)
n.4229A>G
 gnomAD v4
4g.40121763A>TCA356725104N4BP2c.*3443A>T (n.*3443A>T)
c.3652A>T (p.Thr1218Ser)
c.2591A>T
c.3412A>T (p.Thr1138Ser)
c.4048A>T (p.Thr1350Ser)
n.4229A>T
4g.40121764C>ACA356725106N4BP2c.*3444C>A (n.*3444C>A)
c.3653C>A (p.Thr1218Lys)
c.2592C>A
c.3413C>A (p.Thr1138Lys)
c.4049C>A (p.Thr1350Lys)
n.4230C>A
4g.40121764C=CA1452455588N4BP2c.*3444C= (n.*3444C=)
c.3653C= (p.Thr1218=)
c.2592C=
c.3413C= (p.Thr1138=)
c.4049C= (p.Thr1350=)
n.4230C=
4g.40121764C>GCA356725107N4BP2c.*3444C>G (n.*3444C>G)
c.3653C>G (p.Thr1218Arg)
c.2592C>G
c.3413C>G (p.Thr1138Arg)
c.4049C>G (p.Thr1350Arg)
n.4230C>G
4g.40121764C>TCA2897263N4BP2c.*3444C>T (n.*3444C>T)
c.3653C>T (p.Thr1218Ile)
c.2592C>T
c.3413C>T (p.Thr1138Ile)
c.4049C>T (p.Thr1350Ile)
n.4230C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.40121765A>CCA439140417N4BP2c.*3445A>C (n.*3445A>C)
c.3654A>C (p.Thr1218=)
c.2593A>C
c.3414A>C (p.Thr1138=)
c.4050A>C (p.Thr1350=)
n.4231A>C
4g.40121765A>GCA439140418N4BP2c.*3445A>G (n.*3445A>G)
c.3654A>G (p.Thr1218=)
c.2593A>G
c.3414A>G (p.Thr1138=)
c.4050A>G (p.Thr1350=)
n.4231A>G
 gnomAD v4
4g.40121765A>TCA439140419N4BP2c.*3445A>T (n.*3445A>T)
c.3654A>T (p.Thr1218=)
c.2593A>T
c.3414A>T (p.Thr1138=)
c.4050A>T (p.Thr1350=)
n.4231A>T
4g.40121766A=CA1452455592N4BP2c.*3446A= (n.*3446A=)
c.3655A= (p.Ser1219=)
c.2594A=
c.3415A= (p.Ser1139=)
c.4051A= (p.Ser1351=)
n.4232A=
4g.40121766A>CCA356725110N4BP2c.*3446A>C (n.*3446A>C)
c.3655A>C (p.Ser1219Arg)
c.2594A>C
c.3415A>C (p.Ser1139Arg)
c.4051A>C (p.Ser1351Arg)
n.4232A>C
4g.40121766A>GCA356725112N4BP2c.*3446A>G (n.*3446A>G)
c.3655A>G (p.Ser1219Gly)
c.2594A>G
c.3415A>G (p.Ser1139Gly)
c.4051A>G (p.Ser1351Gly)
n.4232A>G
 dbSNP gnomAD v2 gnomAD v4
4g.40121766A>TCA356725113N4BP2c.*3446A>T (n.*3446A>T)
c.3655A>T (p.Ser1219Cys)
c.2594A>T
c.3415A>T (p.Ser1139Cys)
c.4051A>T (p.Ser1351Cys)
n.4232A>T
4g.40121767G>ACA356725118N4BP2c.*3447G>A (n.*3447G>A)
c.3656G>A (p.Ser1219Asn)
c.2595G>A
c.3416G>A (p.Ser1139Asn)
c.4052G>A (p.Ser1351Asn)
n.4233G>A
 gnomAD v4
4g.40121767G>CCA356725115N4BP2c.*3447G>C (n.*3447G>C)
c.3656G>C (p.Ser1219Thr)
c.2595G>C
c.3416G>C (p.Ser1139Thr)
c.4052G>C (p.Ser1351Thr)
n.4233G>C
4g.40121767G>TCA356725117N4BP2c.*3447G>T (n.*3447G>T)
c.3656G>T (p.Ser1219Ile)
c.2595G>T
c.3416G>T (p.Ser1139Ile)
c.4052G>T (p.Ser1351Ile)
n.4233G>T
4g.40121768T>ACA356725119N4BP2c.*3448T>A (n.*3448T>A)
c.3657T>A (p.Ser1219Arg)
c.2596T>A
c.3417T>A (p.Ser1139Arg)
c.4053T>A (p.Ser1351Arg)
n.4234T>A
4g.40121768T>CCA439140422N4BP2c.*3448T>C (n.*3448T>C)
c.3657T>C (p.Ser1219=)
c.2596T>C
c.3417T>C (p.Ser1139=)
c.4053T>C (p.Ser1351=)
n.4234T>C
4g.40121768T>GCA356725120N4BP2c.*3448T>G (n.*3448T>G)
c.3657T>G (p.Ser1219Arg)
c.2596T>G
c.3417T>G (p.Ser1139Arg)
c.4053T>G (p.Ser1351Arg)
n.4234T>G
4g.40121769A=CA1452455597N4BP2c.*3449A= (n.*3449A=)
c.3658A= (p.Ile1220=)
c.2597A=
c.3418A= (p.Ile1140=)
c.4054A= (p.Ile1352=)
n.4235A=
4g.40121769A>CCA356725121N4BP2c.*3449A>C (n.*3449A>C)
c.3658A>C (p.Ile1220Leu)
c.2597A>C
c.3418A>C (p.Ile1140Leu)
c.4054A>C (p.Ile1352Leu)
n.4235A>C
4g.40121769A>GCA356725123N4BP2c.*3449A>G (n.*3449A>G)
c.3658A>G (p.Ile1220Val)
c.2597A>G
c.3418A>G (p.Ile1140Val)
c.4054A>G (p.Ile1352Val)
n.4235A>G
 dbSNP gnomAD v4
4g.40121769A>TCA356725126N4BP2c.*3449A>T (n.*3449A>T)
c.3658A>T (p.Ile1220Leu)
c.2597A>T
c.3418A>T (p.Ile1140Leu)
c.4054A>T (p.Ile1352Leu)
n.4235A>T
4g.40121770T>ACA356725131N4BP2c.*3450T>A (n.*3450T>A)
c.3659T>A (p.Ile1220Lys)
c.2598T>A
c.3419T>A (p.Ile1140Lys)
c.4055T>A (p.Ile1352Lys)
n.4236T>A
4g.40121770T>CCA356725134N4BP2c.*3450T>C (n.*3450T>C)
c.3659T>C (p.Ile1220Thr)
c.2598T>C
c.3419T>C (p.Ile1140Thr)
c.4055T>C (p.Ile1352Thr)
n.4236T>C
4g.40121770T>GCA356725137N4BP2c.*3450T>G (n.*3450T>G)
c.3659T>G (p.Ile1220Arg)
c.2598T>G
c.3419T>G (p.Ile1140Arg)
c.4055T>G (p.Ile1352Arg)
n.4236T>G
4g.40121771delCA2670413644N4BP2c.*3451del (n.*3451del)
c.3660del (p.Ser1223ValfsTer6)
c.2599del
c.3420del (p.Ser1143ValfsTer6)
c.4056del (p.Ser1355ValfsTer6)
n.4237del
 gnomAD v4
4g.40121771A=CA1452455602N4BP2c.*3451A= (n.*3451A=)
c.3660A= (p.Ile1220=)
c.2599A=
c.3420A= (p.Ile1140=)
c.4056A= (p.Ile1352=)
n.4237A=
4g.40121771A>CCA439140426N4BP2c.*3451A>C (n.*3451A>C)
c.3660A>C (p.Ile1220=)
c.2599A>C
c.3420A>C (p.Ile1140=)
c.4056A>C (p.Ile1352=)
n.4237A>C
4g.40121771A>GCA95750367N4BP2c.*3451A>G (n.*3451A>G)
c.3660A>G (p.Ile1220Met)
c.2599A>G
c.3420A>G (p.Ile1140Met)
c.4056A>G (p.Ile1352Met)
n.4237A>G
 dbSNP gnomAD v2 gnomAD v4
4g.40121771A>TCA439140429N4BP2c.*3451A>T (n.*3451A>T)
c.3660A>T (p.Ile1220=)
c.2599A>T
c.3420A>T (p.Ile1140=)
c.4056A>T (p.Ile1352=)
n.4237A>T
 dbSNP
4g.40121772T>ACA356725140N4BP2c.*3452T>A (n.*3452T>A)
c.3661T>A (p.Phe1221Ile)
c.2600T>A
c.3421T>A (p.Phe1141Ile)
c.4057T>A (p.Phe1353Ile)
n.4238T>A
4g.40121772T>CCA356725142N4BP2c.*3452T>C (n.*3452T>C)
c.3661T>C (p.Phe1221Leu)
c.2600T>C
c.3421T>C (p.Phe1141Leu)
c.4057T>C (p.Phe1353Leu)
n.4238T>C
4g.40121772T>GCA356725143N4BP2c.*3452T>G (n.*3452T>G)
c.3661T>G (p.Phe1221Val)
c.2600T>G
c.3421T>G (p.Phe1141Val)
c.4057T>G (p.Phe1353Val)
n.4238T>G
4g.40121773T>ACA356725147N4BP2c.*3453T>A (n.*3453T>A)
c.3662T>A (p.Phe1221Tyr)
c.2601T>A
c.3422T>A (p.Phe1141Tyr)
c.4058T>A (p.Phe1353Tyr)
n.4239T>A
4g.40121773T>CCA356725146N4BP2c.*3453T>C (n.*3453T>C)
c.3662T>C (p.Phe1221Ser)
c.2601T>C
c.3422T>C (p.Phe1141Ser)
c.4058T>C (p.Phe1353Ser)
n.4239T>C
4g.40121773T>GCA356725144N4BP2c.*3453T>G (n.*3453T>G)
c.3662T>G (p.Phe1221Cys)
c.2601T>G
c.3422T>G (p.Phe1141Cys)
c.4058T>G (p.Phe1353Cys)
n.4239T>G
 gnomAD v4
4g.40121774T>ACA356725150N4BP2c.*3454T>A (n.*3454T>A)
c.3663T>A (p.Phe1221Leu)
c.2602T>A
c.3423T>A (p.Phe1141Leu)
c.4059T>A (p.Phe1353Leu)
n.4240T>A
4g.40121774T>CCA439140434N4BP2c.*3454T>C (n.*3454T>C)
c.3663T>C (p.Phe1221=)
c.2602T>C
c.3423T>C (p.Phe1141=)
c.4059T>C (p.Phe1353=)
n.4240T>C
4g.40121774T>GCA356725149N4BP2c.*3454T>G (n.*3454T>G)
c.3663T>G (p.Phe1221Leu)
c.2602T>G
c.3423T>G (p.Phe1141Leu)
c.4059T>G (p.Phe1353Leu)
n.4240T>G
4g.40121775C>ACA356725152N4BP2c.*3455C>A (n.*3455C>A)
c.3664C>A (p.Pro1222Thr)
c.2603C>A
c.3424C>A (p.Pro1142Thr)
c.4060C>A (p.Pro1354Thr)
n.4241C>A
4g.40121775C=CA1452455610N4BP2c.*3455C= (n.*3455C=)
c.3664C= (p.Pro1222=)
c.2603C=
c.3424C= (p.Pro1142=)
c.4060C= (p.Pro1354=)
n.4241C=
4g.40121775C>GCA356725154N4BP2c.*3455C>G (n.*3455C>G)
c.3664C>G (p.Pro1222Ala)
c.2603C>G
c.3424C>G (p.Pro1142Ala)
c.4060C>G (p.Pro1354Ala)
n.4241C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.40121775C>TCA356725155N4BP2c.*3455C>T (n.*3455C>T)
c.3664C>T (p.Pro1222Ser)
c.2603C>T
c.3424C>T (p.Pro1142Ser)
c.4060C>T (p.Pro1354Ser)
n.4241C>T
 COSMIC
4g.40121776C>ACA356725158N4BP2c.*3456C>A (n.*3456C>A)
c.3665C>A (p.Pro1222His)
c.2604C>A
c.3425C>A (p.Pro1142His)
c.4061C>A (p.Pro1354His)
n.4242C>A
4g.40121776C=CA1452455615N4BP2c.*3456C= (n.*3456C=)
c.3665C= (p.Pro1222=)
c.2604C=
c.3425C= (p.Pro1142=)
c.4061C= (p.Pro1354=)
n.4242C=
4g.40121776C>GCA356725160N4BP2c.*3456C>G (n.*3456C>G)
c.3665C>G (p.Pro1222Arg)
c.2604C>G
c.3425C>G (p.Pro1142Arg)
c.4061C>G (p.Pro1354Arg)
n.4242C>G
 gnomAD v4
4g.40121776C>TCA356725161N4BP2c.*3456C>T (n.*3456C>T)
c.3665C>T (p.Pro1222Leu)
c.2604C>T
c.3425C>T (p.Pro1142Leu)
c.4061C>T (p.Pro1354Leu)
n.4242C>T
 dbSNP
4g.40121777C>ACA439140437N4BP2c.*3457C>A (n.*3457C>A)
c.3666C>A (p.Pro1222=)
c.2605C>A
c.3426C>A (p.Pro1142=)
c.4062C>A (p.Pro1354=)
n.4243C>A
4g.40121777C=CA1452455621N4BP2c.*3457C= (n.*3457C=)
c.3666C= (p.Pro1222=)
c.2605C=
c.3426C= (p.Pro1142=)
c.4062C= (p.Pro1354=)
n.4243C=
4g.40121777C>GCA439140438N4BP2c.*3457C>G (n.*3457C>G)
c.3666C>G (p.Pro1222=)
c.2605C>G
c.3426C>G (p.Pro1142=)
c.4062C>G (p.Pro1354=)
n.4243C>G
4g.40121777C>TCA439140439N4BP2c.*3457C>T (n.*3457C>T)
c.3666C>T (p.Pro1222=)
c.2605C>T
c.3426C>T (p.Pro1142=)
c.4062C>T (p.Pro1354=)
n.4243C>T
 dbSNP gnomAD v2 gnomAD v4
4g.40121778A>CCA356725167N4BP2c.*3458A>C (n.*3458A>C)
c.3667A>C (p.Ser1223Arg)
c.2606A>C
c.3427A>C (p.Ser1143Arg)
c.4063A>C (p.Ser1355Arg)
n.4244A>C
4g.40121778A>GCA356725163N4BP2c.*3458A>G (n.*3458A>G)
c.3667A>G (p.Ser1223Gly)
c.2606A>G
c.3427A>G (p.Ser1143Gly)
c.4063A>G (p.Ser1355Gly)
n.4244A>G
4g.40121778A>TCA356725165N4BP2c.*3458A>T (n.*3458A>T)
c.3667A>T (p.Ser1223Cys)
c.2606A>T
c.3427A>T (p.Ser1143Cys)
c.4063A>T (p.Ser1355Cys)
n.4244A>T
4g.40121779G>ACA356725169N4BP2c.*3459G>A (n.*3459G>A)
c.3668G>A (p.Ser1223Asn)
c.2607G>A
c.3428G>A (p.Ser1143Asn)
c.4064G>A (p.Ser1355Asn)
n.4245G>A
 gnomAD v4
4g.40121779G>CCA356725171N4BP2c.*3459G>C (n.*3459G>C)
c.3668G>C (p.Ser1223Thr)
c.2607G>C
c.3428G>C (p.Ser1143Thr)
c.4064G>C (p.Ser1355Thr)
n.4245G>C
4g.40121779G=CA1452455630N4BP2c.*3459G= (n.*3459G=)
c.3668G= (p.Ser1223=)
c.2607G=
c.3428G= (p.Ser1143=)
c.4064G= (p.Ser1355=)
n.4245G=
4g.40121779G>TCA2897264N4BP2c.*3459G>T (n.*3459G>T)
c.3668G>T (p.Ser1223Ile)
c.2607G>T
c.3428G>T (p.Ser1143Ile)
c.4064G>T (p.Ser1355Ile)
n.4245G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.40121780T>ACA356725174N4BP2c.*3460T>A (n.*3460T>A)
c.3669T>A (p.Ser1223Arg)
c.2608T>A
c.3429T>A (p.Ser1143Arg)
c.4065T>A (p.Ser1355Arg)
n.4246T>A
4g.40121780T>CCA439140450N4BP2c.*3460T>C (n.*3460T>C)
c.3669T>C (p.Ser1223=)
c.2608T>C
c.3429T>C (p.Ser1143=)
c.4065T>C (p.Ser1355=)
n.4246T>C
4g.40121780T>GCA356725176N4BP2c.*3460T>G (n.*3460T>G)
c.3669T>G (p.Ser1223Arg)
c.2608T>G
c.3429T>G (p.Ser1143Arg)
c.4065T>G (p.Ser1355Arg)
n.4246T>G
4g.40121785_40121787delCA2670413645N4BP2c.*3465_*3467del (n.*3465_*3467del)
c.3674_3676del (p.Ala1225del)
c.2613_2615del
c.3434_3436del (p.Ala1145del)
c.4070_4072del (p.Ala1357del)
n.4251_4253del
 gnomAD v4
4g.40121781G>ACA356725178N4BP2c.*3461G>A (n.*3461G>A)
c.3670G>A (p.Ala1224Thr)
c.2609G>A
c.3430G>A (p.Ala1144Thr)
c.4066G>A (p.Ala1356Thr)
n.4247G>A
 gnomAD v4
4g.40121781G>CCA356725181N4BP2c.*3461G>C (n.*3461G>C)
c.3670G>C (p.Ala1224Pro)
c.2609G>C
c.3430G>C (p.Ala1144Pro)
c.4066G>C (p.Ala1356Pro)
n.4247G>C
4g.40121781G>TCA356725179N4BP2c.*3461G>T (n.*3461G>T)
c.3670G>T (p.Ala1224Ser)
c.2609G>T
c.3430G>T (p.Ala1144Ser)
c.4066G>T (p.Ala1356Ser)
n.4247G>T
4g.40121782C>ACA356725183N4BP2c.*3462C>A (n.*3462C>A)
c.3671C>A (p.Ala1224Asp)
c.2610C>A
c.3431C>A (p.Ala1144Asp)
c.4067C>A (p.Ala1356Asp)
n.4248C>A
4g.40121782C>GCA356725185N4BP2c.*3462C>G (n.*3462C>G)
c.3671C>G (p.Ala1224Gly)
c.2610C>G
c.3431C>G (p.Ala1144Gly)
c.4067C>G (p.Ala1356Gly)
n.4248C>G
4g.40121782C>TCA356725186N4BP2c.*3462C>T (n.*3462C>T)
c.3671C>T (p.Ala1224Val)
c.2610C>T
c.3431C>T (p.Ala1144Val)
c.4067C>T (p.Ala1356Val)
n.4248C>T
 gnomAD v4
4g.40121783T>ACA439140451N4BP2c.*3463T>A (n.*3463T>A)
c.3672T>A (p.Ala1224=)
c.2611T>A
c.3432T>A (p.Ala1144=)
c.4068T>A (p.Ala1356=)
n.4249T>A
4g.40121783T>CCA439140452N4BP2c.*3463T>C (n.*3463T>C)
c.3672T>C (p.Ala1224=)
c.2611T>C
c.3432T>C (p.Ala1144=)
c.4068T>C (p.Ala1356=)
n.4249T>C
4g.40121783T>GCA439140454N4BP2c.*3463T>G (n.*3463T>G)
c.3672T>G (p.Ala1224=)
c.2611T>G
c.3432T>G (p.Ala1144=)
c.4068T>G (p.Ala1356=)
n.4249T>G
4g.40121784G>ACA356725187N4BP2c.*3464G>A (n.*3464G>A)
c.3673G>A (p.Ala1225Thr)
c.2612G>A
c.3433G>A (p.Ala1145Thr)
c.4069G>A (p.Ala1357Thr)
n.4250G>A
4g.40121784G>CCA356725189N4BP2c.*3464G>C (n.*3464G>C)
c.3673G>C (p.Ala1225Pro)
c.2612G>C
c.3433G>C (p.Ala1145Pro)
c.4069G>C (p.Ala1357Pro)
n.4250G>C
4g.40121784G=CA1452455636N4BP2c.*3464G= (n.*3464G=)
c.3673G= (p.Ala1225=)
c.2612G=
c.3433G= (p.Ala1145=)
c.4069G= (p.Ala1357=)
n.4250G=
4g.40121784G>TCA356725190N4BP2c.*3464G>T (n.*3464G>T)
c.3673G>T (p.Ala1225Ser)
c.2612G>T
c.3433G>T (p.Ala1145Ser)
c.4069G>T (p.Ala1357Ser)
n.4250G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.40121785C>ACA356725192N4BP2c.*3465C>A (n.*3465C>A)
c.3674C>A (p.Ala1225Asp)
c.2613C>A
c.3434C>A (p.Ala1145Asp)
c.4070C>A (p.Ala1357Asp)
n.4251C>A
4g.40121785C>GCA356725194N4BP2c.*3465C>G (n.*3465C>G)
c.3674C>G (p.Ala1225Gly)
c.2613C>G
c.3434C>G (p.Ala1145Gly)
c.4070C>G (p.Ala1357Gly)
n.4251C>G
4g.40121785C>TCA356725195N4BP2c.*3465C>T (n.*3465C>T)
c.3674C>T (p.Ala1225Val)
c.2613C>T
c.3434C>T (p.Ala1145Val)
c.4070C>T (p.Ala1357Val)
n.4251C>T
4g.40121786T>ACA439140458N4BP2c.*3466T>A (n.*3466T>A)
c.3675T>A (p.Ala1225=)
c.2614T>A
c.3435T>A (p.Ala1145=)
c.4071T>A (p.Ala1357=)
n.4252T>A
4g.40121786T>CCA439140461N4BP2c.*3466T>C (n.*3466T>C)
c.3675T>C (p.Ala1225=)
c.2614T>C
c.3435T>C (p.Ala1145=)
c.4071T>C (p.Ala1357=)
n.4252T>C
4g.40121786T>GCA439140460N4BP2c.*3466T>G (n.*3466T>G)
c.3675T>G (p.Ala1225=)
c.2614T>G
c.3435T>G (p.Ala1145=)
c.4071T>G (p.Ala1357=)
n.4252T>G
4g.40121787G>ACA356725197N4BP2c.*3467G>A (n.*3467G>A)
c.3676G>A (p.Val1226Met)
c.2615G>A
c.3436G>A (p.Val1146Met)
c.4072G>A (p.Val1358Met)
n.4253G>A
 dbSNP
4g.40121787G>CCA356725199N4BP2c.*3467G>C (n.*3467G>C)
c.3676G>C (p.Val1226Leu)
c.2615G>C
c.3436G>C (p.Val1146Leu)
c.4072G>C (p.Val1358Leu)
n.4253G>C
4g.40121787G=CA1452455643N4BP2c.*3467G= (n.*3467G=)
c.3676G= (p.Val1226=)
c.2615G=
c.3436G= (p.Val1146=)
c.4072G= (p.Val1358=)
n.4253G=
4g.40121787G>TCA356725201N4BP2c.*3467G>T (n.*3467G>T)
c.3676G>T (p.Val1226Leu)
c.2615G>T
c.3436G>T (p.Val1146Leu)
c.4072G>T (p.Val1358Leu)
n.4253G>T
4g.40121788T>ACA356725202N4BP2c.*3468T>A (n.*3468T>A)
c.3677T>A (p.Val1226Glu)
c.2616T>A
c.3437T>A (p.Val1146Glu)
c.4073T>A (p.Val1358Glu)
n.4254T>A
4g.40121788T>CCA356725204N4BP2c.*3468T>C (n.*3468T>C)
c.3677T>C (p.Val1226Ala)
c.2616T>C
c.3437T>C (p.Val1146Ala)
c.4073T>C (p.Val1358Ala)
n.4254T>C
4g.40121788T>GCA356725203N4BP2c.*3468T>G (n.*3468T>G)
c.3677T>G (p.Val1226Gly)
c.2616T>G
c.3437T>G (p.Val1146Gly)
c.4073T>G (p.Val1358Gly)
n.4254T>G
4g.40121789G>ACA439140463N4BP2c.*3469G>A (n.*3469G>A)
c.3678G>A (p.Val1226=)
c.2617G>A
c.3438G>A (p.Val1146=)
c.4074G>A (p.Val1358=)
n.4255G>A
4g.40121789G>CCA439140465N4BP2c.*3469G>C (n.*3469G>C)
c.3678G>C (p.Val1226=)
c.2617G>C
c.3438G>C (p.Val1146=)
c.4074G>C (p.Val1358=)
n.4255G>C
4g.40121789G>TCA439140466N4BP2c.*3469G>T (n.*3469G>T)
c.3678G>T (p.Val1226=)
c.2617G>T
c.3438G>T (p.Val1146=)
c.4074G>T (p.Val1358=)
n.4255G>T
4g.40121791dupCA2670413646N4BP2c.*3471dup (n.*3471dup)
c.3680dup (p.Leu1228SerfsTer4)
c.2619dup
c.3440dup (p.Leu1148SerfsTer4)
c.4076dup (p.Leu1360SerfsTer4)
n.4257dup
 gnomAD v4
4g.40121790G>ACA356725207N4BP2c.*3470G>A (n.*3470G>A)
c.3679G>A (p.Gly1227Ser)
c.2618G>A
c.3439G>A (p.Gly1147Ser)
c.4075G>A (p.Gly1359Ser)
n.4256G>A
4g.40121790G>CCA356725208N4BP2c.*3470G>C (n.*3470G>C)
c.3679G>C (p.Gly1227Arg)
c.2618G>C
c.3439G>C (p.Gly1147Arg)
c.4075G>C (p.Gly1359Arg)
n.4256G>C
4g.40121790G>TCA356725209N4BP2c.*3470G>T (n.*3470G>T)
c.3679G>T (p.Gly1227Cys)
c.2618G>T
c.3439G>T (p.Gly1147Cys)
c.4075G>T (p.Gly1359Cys)
n.4256G>T
4g.40121791G>ACA356725211N4BP2c.*3471G>A (n.*3471G>A)
c.3680G>A (p.Gly1227Asp)
c.2619G>A
c.3440G>A (p.Gly1147Asp)
c.4076G>A (p.Gly1359Asp)
n.4257G>A
4g.40121791G>CCA356725212N4BP2c.*3471G>C (n.*3471G>C)
c.3680G>C (p.Gly1227Ala)
c.2619G>C
c.3440G>C (p.Gly1147Ala)
c.4076G>C (p.Gly1359Ala)
n.4257G>C
4g.40121791G>TCA356725214N4BP2c.*3471G>T (n.*3471G>T)
c.3680G>T (p.Gly1227Val)
c.2619G>T
c.3440G>T (p.Gly1147Val)
c.4076G>T (p.Gly1359Val)
n.4257G>T
4g.40121792T>ACA439140469N4BP2c.*3472T>A (n.*3472T>A)
c.3681T>A (p.Gly1227=)
c.2620T>A
c.3441T>A (p.Gly1147=)
c.4077T>A (p.Gly1359=)
n.4258T>A
4g.40121792T>CCA439140470N4BP2c.*3472T>C (n.*3472T>C)
c.3681T>C (p.Gly1227=)
c.2620T>C
c.3441T>C (p.Gly1147=)
c.4077T>C (p.Gly1359=)
n.4258T>C
4g.40121792T>GCA439140471N4BP2c.*3472T>G (n.*3472T>G)
c.3681T>G (p.Gly1227=)
c.2620T>G
c.3441T>G (p.Gly1147=)
c.4077T>G (p.Gly1359=)
n.4258T>G
4g.40121793C>ACA356725216N4BP2c.*3473C>A (n.*3473C>A)
c.3682C>A (p.Leu1228Ile)
c.2621C>A
c.3442C>A (p.Leu1148Ile)
c.4078C>A (p.Leu1360Ile)
n.4259C>A
4g.40121793C=CA1452455647N4BP2c.*3473C= (n.*3473C=)
c.3682C= (p.Leu1228=)
c.2621C=
c.3442C= (p.Leu1148=)
c.4078C= (p.Leu1360=)
n.4259C=
4g.40121793C>GCA2897265N4BP2c.*3473C>G (n.*3473C>G)
c.3682C>G (p.Leu1228Val)
c.2621C>G
c.3442C>G (p.Leu1148Val)
c.4078C>G (p.Leu1360Val)
n.4259C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.40121793C>TCA439140472N4BP2c.*3473C>T (n.*3473C>T)
c.3682C>T (p.Leu1228=)
c.2621C>T
c.3442C>T (p.Leu1148=)
c.4078C>T (p.Leu1360=)
n.4259C>T
4g.40121794T>ACA356725220N4BP2c.*3474T>A (n.*3474T>A)
c.3683T>A (p.Leu1228Gln)
c.2622T>A
c.3443T>A (p.Leu1148Gln)
c.4079T>A (p.Leu1360Gln)
n.4260T>A
4g.40121794T>CCA356725221N4BP2c.*3474T>C (n.*3474T>C)
c.3683T>C (p.Leu1228Pro)
c.2622T>C
c.3443T>C (p.Leu1148Pro)
c.4079T>C (p.Leu1360Pro)
n.4260T>C
4g.40121794T>GCA356725223N4BP2c.*3474T>G (n.*3474T>G)
c.3683T>G (p.Leu1228Arg)
c.2622T>G
c.3443T>G (p.Leu1148Arg)
c.4079T>G (p.Leu1360Arg)
n.4260T>G
4g.40121795A>CCA439140476N4BP2c.*3475A>C (n.*3475A>C)
c.3684A>C (p.Leu1228=)
c.2623A>C
c.3444A>C (p.Leu1148=)
c.4080A>C (p.Leu1360=)
n.4261A>C
4g.40121795A>GCA439140477N4BP2c.*3475A>G (n.*3475A>G)
c.3684A>G (p.Leu1228=)
c.2623A>G
c.3444A>G (p.Leu1148=)
c.4080A>G (p.Leu1360=)
n.4261A>G
4g.40121795A>TCA439140478N4BP2c.*3475A>T (n.*3475A>T)
c.3684A>T (p.Leu1228=)
c.2623A>T
c.3444A>T (p.Leu1148=)
c.4080A>T (p.Leu1360=)
n.4261A>T
4g.40121796A>CCA356725228N4BP2c.*3476A>C (n.*3476A>C)
c.3685A>C (p.Lys1229Gln)
c.2624A>C
c.3445A>C (p.Lys1149Gln)
c.4081A>C (p.Lys1361Gln)
n.4262A>C
4g.40121796A>GCA356725227N4BP2c.*3476A>G (n.*3476A>G)
c.3685A>G (p.Lys1229Glu)
c.2624A>G
c.3445A>G (p.Lys1149Glu)
c.4081A>G (p.Lys1361Glu)
n.4262A>G
4g.40121796A>TCA356725225N4BP2c.*3476A>T (n.*3476A>T)
c.3685A>T (p.Lys1229Ter)
c.2624A>T
c.3445A>T (p.Lys1149Ter)
c.4081A>T (p.Lys1361Ter)
n.4262A>T
4g.40121798_40121800delCA2705727696N4BP2c.*3478_*3480del (n.*3478_*3480del)
c.3687_3689del (p.Lys1229del)
c.2626_2628del
c.3447_3449del (p.Lys1149del)
c.4083_4085del (p.Lys1361del)
n.4264_4266del
 dbSNP
4g.40121797A=CA1452455654N4BP2c.*3477A= (n.*3477A=)
c.3686A= (p.Lys1229=)
c.2625A=
c.3446A= (p.Lys1149=)
c.4082A= (p.Lys1361=)
n.4263A=
4g.40121797A>CCA356725229N4BP2c.*3477A>C (n.*3477A>C)
c.3686A>C (p.Lys1229Thr)
c.2625A>C
c.3446A>C (p.Lys1149Thr)
c.4082A>C (p.Lys1361Thr)
n.4263A>C
4g.40121797A>GCA356725231N4BP2c.*3477A>G (n.*3477A>G)
c.3686A>G (p.Lys1229Arg)
c.2625A>G
c.3446A>G (p.Lys1149Arg)
c.4082A>G (p.Lys1361Arg)
n.4263A>G
 dbSNP gnomAD v4
4g.40121797A>TCA356725232N4BP2c.*3477A>T (n.*3477A>T)
c.3686A>T (p.Lys1229Met)
c.2625A>T
c.3446A>T (p.Lys1149Met)
c.4082A>T (p.Lys1361Met)
n.4263A>T
4g.40121798G>ACA439140480N4BP2c.*3478G>A (n.*3478G>A)
c.3687G>A (p.Lys1229=)
c.2626G>A
c.3447G>A (p.Lys1149=)
c.4083G>A (p.Lys1361=)
n.4264G>A
4g.40121798G>CCA2897266N4BP2c.*3478G>C (n.*3478G>C)
c.3687G>C (p.Lys1229Asn)
c.2626G>C
c.3447G>C (p.Lys1149Asn)
c.4083G>C (p.Lys1361Asn)
n.4264G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.40121798G=CA1452455660N4BP2c.*3478G= (n.*3478G=)
c.3687G= (p.Lys1229=)
c.2626G=
c.3447G= (p.Lys1149=)
c.4083G= (p.Lys1361=)
n.4264G=
4g.40121798G>TCA356725233N4BP2c.*3478G>T (n.*3478G>T)
c.3687G>T (p.Lys1229Asn)
c.2626G>T
c.3447G>T (p.Lys1149Asn)
c.4083G>T (p.Lys1361Asn)
n.4264G>T
 dbSNP gnomAD v4
4g.40121799A>CCA356725234N4BP2c.*3479A>C (n.*3479A>C)
c.3688A>C (p.Asn1230His)
c.2627A>C
c.3448A>C (p.Asn1150His)
c.4084A>C (p.Asn1362His)
n.4265A>C
4g.40121799A>GCA356725236N4BP2c.*3479A>G (n.*3479A>G)
c.3688A>G (p.Asn1230Asp)
c.2627A>G
c.3448A>G (p.Asn1150Asp)
c.4084A>G (p.Asn1362Asp)
n.4265A>G
4g.40121799A>TCA356725237N4BP2c.*3479A>T (n.*3479A>T)
c.3688A>T (p.Asn1230Tyr)
c.2627A>T
c.3448A>T (p.Asn1150Tyr)
c.4084A>T (p.Asn1362Tyr)
n.4265A>T
4g.40121800A=CA1452455670N4BP2c.*3480A= (n.*3480A=)
c.3689A= (p.Asn1230=)
c.2628A=
c.3449A= (p.Asn1150=)
c.4085A= (p.Asn1362=)
n.4266A=
4g.40121800A>CCA356725239N4BP2c.*3480A>C (n.*3480A>C)
c.3689A>C (p.Asn1230Thr)
c.2628A>C
c.3449A>C (p.Asn1150Thr)
c.4085A>C (p.Asn1362Thr)
n.4266A>C
 gnomAD v4
4g.40121800A>GCA356725241N4BP2c.*3480A>G (n.*3480A>G)
c.3689A>G (p.Asn1230Ser)
c.2628A>G
c.3449A>G (p.Asn1150Ser)
c.4085A>G (p.Asn1362Ser)
n.4266A>G
 dbSNP gnomAD v3 gnomAD v4
4g.40121800A>TCA356725242N4BP2c.*3480A>T (n.*3480A>T)
c.3689A>T (p.Asn1230Ile)
c.2628A>T
c.3449A>T (p.Asn1150Ile)
c.4085A>T (p.Asn1362Ile)
n.4266A>T
4g.40121801T>ACA356725244N4BP2c.*3481T>A (n.*3481T>A)
c.3690T>A (p.Asn1230Lys)
c.2629T>A
c.3450T>A (p.Asn1150Lys)
c.4086T>A (p.Asn1362Lys)
n.4267T>A
4g.40121801T>CCA439140482N4BP2c.*3481T>C (n.*3481T>C)
c.3690T>C (p.Asn1230=)
c.2629T>C
c.3450T>C (p.Asn1150=)
c.4086T>C (p.Asn1362=)
n.4267T>C
4g.40121801T>GCA356725245N4BP2c.*3481T>G (n.*3481T>G)
c.3690T>G (p.Asn1230Lys)
c.2629T>G
c.3450T>G (p.Asn1150Lys)
c.4086T>G (p.Asn1362Lys)
n.4267T>G
 gnomAD v4
4g.40121802A=CA1452455672N4BP2c.*3482A= (n.*3482A=)
c.3691A= (p.Asn1231=)
c.2630A=
c.3451A= (p.Asn1151=)
c.4087A= (p.Asn1363=)
n.4268A=
4g.40121802A>CCA356725248N4BP2c.*3482A>C (n.*3482A>C)
c.3691A>C (p.Asn1231His)
c.2630A>C
c.3451A>C (p.Asn1151His)
c.4087A>C (p.Asn1363His)
n.4268A>C
4g.40121802A>GCA2897267N4BP2c.*3482A>G (n.*3482A>G)
c.3691A>G (p.Asn1231Asp)
c.2630A>G
c.3451A>G (p.Asn1151Asp)
c.4087A>G (p.Asn1363Asp)
n.4268A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.40121802A>TCA356725246N4BP2c.*3482A>T (n.*3482A>T)
c.3691A>T (p.Asn1231Tyr)
c.2630A>T
c.3451A>T (p.Asn1151Tyr)
c.4087A>T (p.Asn1363Tyr)
n.4268A>T
4g.40121803A=CA1452455678N4BP2c.*3483A= (n.*3483A=)
c.3692A= (p.Asn1231=)
c.2631A=
c.3452A= (p.Asn1151=)
c.4088A= (p.Asn1363=)
n.4269A=
4g.40121803A>CCA356725250N4BP2c.*3483A>C (n.*3483A>C)
c.3692A>C (p.Asn1231Thr)
c.2631A>C
c.3452A>C (p.Asn1151Thr)
c.4088A>C (p.Asn1363Thr)
n.4269A>C
4g.40121803A>GCA2897268N4BP2c.*3483A>G (n.*3483A>G)
c.3692A>G (p.Asn1231Ser)
c.2631A>G
c.3452A>G (p.Asn1151Ser)
c.4088A>G (p.Asn1363Ser)
n.4269A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.40121803A>TCA356725252N4BP2c.*3483A>T (n.*3483A>T)
c.3692A>T (p.Asn1231Ile)
c.2631A>T
c.3452A>T (p.Asn1151Ile)
c.4088A>T (p.Asn1363Ile)
n.4269A>T
4g.40121804T>ACA356725254N4BP2c.*3484T>A (n.*3484T>A)
c.3693T>A (p.Asn1231Lys)
c.2632T>A
c.3453T>A (p.Asn1151Lys)
c.4089T>A (p.Asn1363Lys)
n.4270T>A
4g.40121804T>CCA439140487N4BP2c.*3484T>C (n.*3484T>C)
c.3693T>C (p.Asn1231=)
c.2632T>C
c.3453T>C (p.Asn1151=)
c.4089T>C (p.Asn1363=)
n.4270T>C
4g.40121804T>GCA356725256N4BP2c.*3484T>G (n.*3484T>G)
c.3693T>G (p.Asn1231Lys)
c.2632T>G
c.3453T>G (p.Asn1151Lys)
c.4089T>G (p.Asn1363Lys)
n.4270T>G
4g.40121805A=CA1452455685N4BP2c.*3485A= (n.*3485A=)
c.3694A= (p.Asn1232=)
c.2633A=
c.3454A= (p.Asn1152=)
c.4090A= (p.Asn1364=)
n.4271A=
4g.40121805A>CCA95750373N4BP2c.*3485A>C (n.*3485A>C)
c.3694A>C (p.Asn1232His)
c.2633A>C
c.3454A>C (p.Asn1152His)
c.4090A>C (p.Asn1364His)
n.4271A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.40121805A>GCA356725259N4BP2c.*3485A>G (n.*3485A>G)
c.3694A>G (p.Asn1232Asp)
c.2633A>G
c.3454A>G (p.Asn1152Asp)
c.4090A>G (p.Asn1364Asp)
n.4271A>G
4g.40121805A>TCA356725261N4BP2c.*3485A>T (n.*3485A>T)
c.3694A>T (p.Asn1232Tyr)
c.2633A>T
c.3454A>T (p.Asn1152Tyr)
c.4090A>T (p.Asn1364Tyr)
n.4271A>T
4g.40121806A>CCA356725262N4BP2c.*3486A>C (n.*3486A>C)
c.3695A>C (p.Asn1232Thr)
c.2634A>C
c.3455A>C (p.Asn1152Thr)
c.4091A>C (p.Asn1364Thr)
n.4272A>C
4g.40121806A>GCA356725264N4BP2c.*3486A>G (n.*3486A>G)
c.3695A>G (p.Asn1232Ser)
c.2634A>G
c.3455A>G (p.Asn1152Ser)
c.4091A>G (p.Asn1364Ser)
n.4272A>G
4g.40121806A>TCA356725265N4BP2c.*3486A>T (n.*3486A>T)
c.3695A>T (p.Asn1232Ile)
c.2634A>T
c.3455A>T (p.Asn1152Ile)
c.4091A>T (p.Asn1364Ile)
n.4272A>T
4g.40121807T>ACA356725267N4BP2c.*3487T>A (n.*3487T>A)
c.3696T>A (p.Asn1232Lys)
c.2635T>A
c.3456T>A (p.Asn1152Lys)
c.4092T>A (p.Asn1364Lys)
n.4273T>A
4g.40121807T>CCA439140490N4BP2c.*3487T>C (n.*3487T>C)
c.3696T>C (p.Asn1232=)
c.2635T>C
c.3456T>C (p.Asn1152=)
c.4092T>C (p.Asn1364=)
n.4273T>C
4g.40121807T>GCA356725269N4BP2c.*3487T>G (n.*3487T>G)
c.3696T>G (p.Asn1232Lys)
c.2635T>G
c.3456T>G (p.Asn1152Lys)
c.4092T>G (p.Asn1364Lys)
n.4273T>G
4g.40121808G>ACA356725271N4BP2c.*3488G>A (n.*3488G>A)
c.3697G>A (p.Asp1233Asn)
c.2636G>A
c.3457G>A (p.Asp1153Asn)
c.4093G>A (p.Asp1365Asn)
n.4274G>A
4g.40121808G>CCA356725272N4BP2c.*3488G>C (n.*3488G>C)
c.3697G>C (p.Asp1233His)
c.2636G>C
c.3457G>C (p.Asp1153His)
c.4093G>C (p.Asp1365His)
n.4274G>C
4g.40121808G>TCA356725274N4BP2c.*3488G>T (n.*3488G>T)
c.3697G>T (p.Asp1233Tyr)
c.2636G>T
c.3457G>T (p.Asp1153Tyr)
c.4093G>T (p.Asp1365Tyr)
n.4274G>T
4g.40121809A=CA1452455694N4BP2c.*3489A= (n.*3489A=)
c.3698A= (p.Asp1233=)
c.2637A=
c.3458A= (p.Asp1153=)
c.4094A= (p.Asp1365=)
n.4275A=
4g.40121809A>CCA356725277N4BP2c.*3489A>C (n.*3489A>C)
c.3698A>C (p.Asp1233Ala)
c.2637A>C
c.3458A>C (p.Asp1153Ala)
c.4094A>C (p.Asp1365Ala)
n.4275A>C
4g.40121809A>GCA356725278N4BP2c.*3489A>G (n.*3489A>G)
c.3698A>G (p.Asp1233Gly)
c.2637A>G
c.3458A>G (p.Asp1153Gly)
c.4094A>G (p.Asp1365Gly)
n.4275A>G
 dbSNP gnomAD v3 gnomAD v4
4g.40121809A>TCA356725279N4BP2c.*3489A>T (n.*3489A>T)
c.3698A>T (p.Asp1233Val)
c.2637A>T
c.3458A>T (p.Asp1153Val)
c.4094A>T (p.Asp1365Val)
n.4275A>T
4g.40121810C>ACA356725281N4BP2c.*3490C>A (n.*3490C>A)
c.3699C>A (p.Asp1233Glu)
c.2638C>A
c.3459C>A (p.Asp1153Glu)
c.4095C>A (p.Asp1365Glu)
n.4276C>A
4g.40121810C>GCA356725283N4BP2c.*3490C>G (n.*3490C>G)
c.3699C>G (p.Asp1233Glu)
c.2638C>G
c.3459C>G (p.Asp1153Glu)
c.4095C>G (p.Asp1365Glu)
n.4276C>G
4g.40121810C>TCA439140492N4BP2c.*3490C>T (n.*3490C>T)
c.3699C>T (p.Asp1233=)
c.2638C>T
c.3459C>T (p.Asp1153=)
c.4095C>T (p.Asp1365=)
n.4276C>T
4g.40121811A=CA1452455704N4BP2c.*3491A= (n.*3491A=)
c.3700A= (p.Ile1234=)
c.2639A=
c.3460A= (p.Ile1154=)
c.4096A= (p.Ile1366=)
n.4277A=
4g.40121811A>CCA2897269N4BP2c.*3491A>C (n.*3491A>C)
c.3700A>C (p.Ile1234Leu)
c.2639A>C
c.3460A>C (p.Ile1154Leu)
c.4096A>C (p.Ile1366Leu)
n.4277A>C
 dbSNP ExAC gnomAD v2
4g.40121811A>GCA356725286N4BP2c.*3491A>G (n.*3491A>G)
c.3700A>G (p.Ile1234Val)
c.2639A>G
c.3460A>G (p.Ile1154Val)
c.4096A>G (p.Ile1366Val)
n.4277A>G
4g.40121811A>TCA356725288N4BP2c.*3491A>T (n.*3491A>T)
c.3700A>T (p.Ile1234Leu)
c.2639A>T
c.3460A>T (p.Ile1154Leu)
c.4096A>T (p.Ile1366Leu)
n.4277A>T
4g.40121812T>ACA356725289N4BP2c.*3492T>A (n.*3492T>A)
c.3701T>A (p.Ile1234Lys)
c.2640T>A
c.3461T>A (p.Ile1154Lys)
c.4097T>A (p.Ile1366Lys)
n.4278T>A
4g.40121812T>CCA356725291N4BP2c.*3492T>C (n.*3492T>C)
c.3701T>C (p.Ile1234Thr)
c.2640T>C
c.3461T>C (p.Ile1154Thr)
c.4097T>C (p.Ile1366Thr)
n.4278T>C
4g.40121812T>GCA356725292N4BP2c.*3492T>G (n.*3492T>G)
c.3701T>G (p.Ile1234Arg)
c.2640T>G
c.3461T>G (p.Ile1154Arg)
c.4097T>G (p.Ile1366Arg)
n.4278T>G
4g.40121813A=CA1452455707N4BP2c.*3493A= (n.*3493A=)
c.3702A= (p.Ile1234=)
c.2641A=
c.3462A= (p.Ile1154=)
c.4098A= (p.Ile1366=)
n.4279A=
4g.40121813A>CCA439140499N4BP2c.*3493A>C (n.*3493A>C)
c.3702A>C (p.Ile1234=)
c.2641A>C
c.3462A>C (p.Ile1154=)
c.4098A>C (p.Ile1366=)
n.4279A>C
 dbSNP
4g.40121813A>GCA356725295N4BP2c.*3493A>G (n.*3493A>G)
c.3702A>G (p.Ile1234Met)
c.2641A>G
c.3462A>G (p.Ile1154Met)
c.4098A>G (p.Ile1366Met)
n.4279A>G
4g.40121813A>TCA439140500N4BP2c.*3493A>T (n.*3493A>T)
c.3702A>T (p.Ile1234=)
c.2641A>T
c.3462A>T (p.Ile1154=)
c.4098A>T (p.Ile1366=)
n.4279A>T
4g.40121814C>ACA2897270N4BP2c.*3494C>A (n.*3494C>A)
c.3703C>A (p.Leu1235Ile)
c.2642C>A
c.3463C>A (p.Leu1155Ile)
c.4099C>A (p.Leu1367Ile)
n.4280C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.40121814C=CA1452455715N4BP2c.*3494C= (n.*3494C=)
c.3703C= (p.Leu1235=)
c.2642C=
c.3463C= (p.Leu1155=)
c.4099C= (p.Leu1367=)
n.4280C=
4g.40121814C>GCA356725297N4BP2c.*3494C>G (n.*3494C>G)
c.3703C>G (p.Leu1235Val)
c.2642C>G
c.3463C>G (p.Leu1155Val)
c.4099C>G (p.Leu1367Val)
n.4280C>G
4g.40121814C>TCA356725298N4BP2c.*3494C>T (n.*3494C>T)
c.3703C>T (p.Leu1235Phe)
c.2642C>T
c.3463C>T (p.Leu1155Phe)
c.4099C>T (p.Leu1367Phe)
n.4280C>T
4g.40121815T>ACA356725300N4BP2c.*3495T>A (n.*3495T>A)
c.3704T>A (p.Leu1235His)
c.2643T>A
c.3464T>A (p.Leu1155His)
c.4100T>A (p.Leu1367His)
n.4281T>A
 dbSNP gnomAD v2 gnomAD v4
4g.40121815T>CCA356725302N4BP2c.*3495T>C (n.*3495T>C)
c.3704T>C (p.Leu1235Pro)
c.2643T>C
c.3464T>C (p.Leu1155Pro)
c.4100T>C (p.Leu1367Pro)
n.4281T>C
4g.40121815T>GCA356725304N4BP2c.*3495T>G (n.*3495T>G)
c.3704T>G (p.Leu1235Arg)
c.2643T>G
c.3464T>G (p.Leu1155Arg)
c.4100T>G (p.Leu1367Arg)
n.4281T>G
4g.40121815T=CA1452455720N4BP2c.*3495T= (n.*3495T=)
c.3704T= (p.Leu1235=)
c.2643T=
c.3464T= (p.Leu1155=)
c.4100T= (p.Leu1367=)
n.4281T=
4g.40121816T>ACA439140502N4BP2c.*3496T>A (n.*3496T>A)
c.3705T>A (p.Leu1235=)
c.2644T>A
c.3465T>A (p.Leu1155=)
c.4101T>A (p.Leu1367=)
n.4282T>A
4g.40121816T>CCA439140503N4BP2c.*3496T>C (n.*3496T>C)
c.3705T>C (p.Leu1235=)
c.2644T>C
c.3465T>C (p.Leu1155=)
c.4101T>C (p.Leu1367=)
n.4282T>C
4g.40121816T>GCA439140504N4BP2c.*3496T>G (n.*3496T>G)
c.3705T>G (p.Leu1235=)
c.2644T>G
c.3465T>G (p.Leu1155=)
c.4101T>G (p.Leu1367=)
n.4282T>G
 gnomAD v4
4g.40121817C>ACA356725306N4BP2c.*3497C>A (n.*3497C>A)
c.3706C>A (p.Pro1236Thr)
c.2645C>A
c.3466C>A (p.Pro1156Thr)
c.4102C>A (p.Pro1368Thr)
n.4283C>A
4g.40121817C>GCA356725310N4BP2c.*3497C>G (n.*3497C>G)
c.3706C>G (p.Pro1236Ala)
c.2645C>G
c.3466C>G (p.Pro1156Ala)
c.4102C>G (p.Pro1368Ala)
n.4283C>G
4g.40121817C>TCA356725308N4BP2c.*3497C>T (n.*3497C>T)
c.3706C>T (p.Pro1236Ser)
c.2645C>T
c.3466C>T (p.Pro1156Ser)
c.4102C>T (p.Pro1368Ser)
n.4283C>T
4g.40121818C>ACA356725312N4BP2c.*3498C>A (n.*3498C>A)
c.3707C>A (p.Pro1236His)
c.2646C>A
c.3467C>A (p.Pro1156His)
c.4103C>A (p.Pro1368His)
n.4284C>A
4g.40121818C>GCA356725314N4BP2c.*3498C>G (n.*3498C>G)
c.3707C>G (p.Pro1236Arg)
c.2646C>G
c.3467C>G (p.Pro1156Arg)
c.4103C>G (p.Pro1368Arg)
n.4284C>G
4g.40121818C>TCA356725316N4BP2c.*3498C>T (n.*3498C>T)
c.3707C>T (p.Pro1236Leu)
c.2646C>T
c.3467C>T (p.Pro1156Leu)
c.4103C>T (p.Pro1368Leu)
n.4284C>T
4g.40121819T>ACA439140508N4BP2c.*3499T>A (n.*3499T>A)
c.3708T>A (p.Pro1236=)
c.2647T>A
c.3468T>A (p.Pro1156=)
c.4104T>A (p.Pro1368=)
n.4285T>A
4g.40121819T>CCA439140509N4BP2c.*3499T>C (n.*3499T>C)
c.3708T>C (p.Pro1236=)
c.2647T>C
c.3468T>C (p.Pro1156=)
c.4104T>C (p.Pro1368=)
n.4285T>C
4g.40121819T>GCA439140510N4BP2c.*3499T>G (n.*3499T>G)
c.3708T>G (p.Pro1236=)
c.2647T>G
c.3468T>G (p.Pro1156=)
c.4104T>G (p.Pro1368=)
n.4285T>G
4g.40121820A>CCA356725317N4BP2c.*3500A>C (n.*3500A>C)
c.3709A>C (p.Asn1237His)
c.2648A>C
c.3469A>C (p.Asn1157His)
c.4105A>C (p.Asn1369His)
n.4286A>C
4g.40121820A>GCA356725319N4BP2c.*3500A>G (n.*3500A>G)
c.3709A>G (p.Asn1237Asp)
c.2648A>G
c.3469A>G (p.Asn1157Asp)
c.4105A>G (p.Asn1369Asp)
n.4286A>G
4g.40121820A>TCA356725320N4BP2c.*3500A>T (n.*3500A>T)
c.3709A>T (p.Asn1237Tyr)
c.2648A>T
c.3469A>T (p.Asn1157Tyr)
c.4105A>T (p.Asn1369Tyr)
n.4286A>T
4g.40121820_40121823delCA2830536670N4BP2c.*3500_*3503del (n.*3500_*3503del)
c.3709_3712del (p.Asn1237AlafsTer17)
c.2648_2651del
c.3469_3472del (p.Asn1157AlafsTer17)
c.4105_4108del (p.Asn1369AlafsTer17)
n.4286_4289del
4g.40121821A>CCA356725326N4BP2c.*3501A>C (n.*3501A>C)
c.3710A>C (p.Asn1237Thr)
c.2649A>C
c.3470A>C (p.Asn1157Thr)
c.4106A>C (p.Asn1369Thr)
n.4287A>C
4g.40121821A>GCA356725322N4BP2c.*3501A>G (n.*3501A>G)
c.3710A>G (p.Asn1237Ser)
c.2649A>G
c.3470A>G (p.Asn1157Ser)
c.4106A>G (p.Asn1369Ser)
n.4287A>G
4g.40121821A>TCA356725324N4BP2c.*3501A>T (n.*3501A>T)
c.3710A>T (p.Asn1237Ile)
c.2649A>T
c.3470A>T (p.Asn1157Ile)
c.4106A>T (p.Asn1369Ile)
n.4287A>T
4g.40121822C>ACA356725327N4BP2c.*3502C>A (n.*3502C>A)
c.3711C>A (p.Asn1237Lys)
c.2650C>A
c.3471C>A (p.Asn1157Lys)
c.4107C>A (p.Asn1369Lys)
n.4288C>A
4g.40121822C>GCA356725329N4BP2c.*3502C>G (n.*3502C>G)
c.3711C>G (p.Asn1237Lys)
c.2650C>G
c.3471C>G (p.Asn1157Lys)
c.4107C>G (p.Asn1369Lys)
n.4288C>G
4g.40121822C>TCA439140519N4BP2c.*3502C>T (n.*3502C>T)
c.3711C>T (p.Asn1237=)
c.2650C>T
c.3471C>T (p.Asn1157=)
c.4107C>T (p.Asn1369=)
n.4288C>T
4g.40121823A>CCA356725331N4BP2c.*3503A>C (n.*3503A>C)
c.3712A>C (p.Ser1238Arg)
c.2651A>C
c.3472A>C (p.Ser1158Arg)
c.4108A>C (p.Ser1370Arg)
n.4289A>C
4g.40121823A>GCA356725333N4BP2c.*3503A>G (n.*3503A>G)
c.3712A>G (p.Ser1238Gly)
c.2651A>G
c.3472A>G (p.Ser1158Gly)
c.4108A>G (p.Ser1370Gly)
n.4289A>G
4g.40121823A>TCA356725335N4BP2c.*3503A>T (n.*3503A>T)
c.3712A>T (p.Ser1238Cys)
c.2651A>T
c.3472A>T (p.Ser1158Cys)
c.4108A>T (p.Ser1370Cys)
n.4289A>T
 gnomAD v4
4g.40121824G>ACA356725336N4BP2c.*3504G>A (n.*3504G>A)
c.3713G>A (p.Ser1238Asn)
c.2652G>A
c.3473G>A (p.Ser1158Asn)
c.4109G>A (p.Ser1370Asn)
n.4290G>A
4g.40121824G>CCA356725338N4BP2c.*3504G>C (n.*3504G>C)
c.3713G>C (p.Ser1238Thr)
c.2652G>C
c.3473G>C (p.Ser1158Thr)
c.4109G>C (p.Ser1370Thr)
n.4290G>C
4g.40121824G>TCA356725337N4BP2c.*3504G>T (n.*3504G>T)
c.3713G>T (p.Ser1238Ile)
c.2652G>T
c.3473G>T (p.Ser1158Ile)
c.4109G>T (p.Ser1370Ile)
n.4290G>T
4g.40121825C>ACA356725339N4BP2c.*3505C>A (n.*3505C>A)
c.3714C>A (p.Ser1238Arg)
c.2653C>A
c.3474C>A (p.Ser1158Arg)
c.4110C>A (p.Ser1370Arg)
n.4291C>A
4g.40121825C>GCA356725340N4BP2c.*3505C>G (n.*3505C>G)
c.3714C>G (p.Ser1238Arg)
c.2653C>G
c.3474C>G (p.Ser1158Arg)
c.4110C>G (p.Ser1370Arg)
n.4291C>G
4g.40121825C>TCA439140525N4BP2c.*3505C>T (n.*3505C>T)
c.3714C>T (p.Ser1238=)
c.2653C>T
c.3474C>T (p.Ser1158=)
c.4110C>T (p.Ser1370=)
n.4291C>T
4g.40121826C>ACA356725342N4BP2c.*3506C>A (n.*3506C>A)
c.3715C>A (p.Gln1239Lys)
c.2654C>A
c.3475C>A (p.Gln1159Lys)
c.4111C>A (p.Gln1371Lys)
n.4292C>A
4g.40121826C=CA1452455726N4BP2c.*3506C= (n.*3506C=)
c.3715C= (p.Gln1239=)
c.2654C=
c.3475C= (p.Gln1159=)
c.4111C= (p.Gln1371=)
n.4292C=
4g.40121826C>GCA356725344N4BP2c.*3506C>G (n.*3506C>G)
c.3715C>G (p.Gln1239Glu)
c.2654C>G
c.3475C>G (p.Gln1159Glu)
c.4111C>G (p.Gln1371Glu)
n.4292C>G
 gnomAD v4
4g.40121826C>TCA356725346N4BP2c.*3506C>T (n.*3506C>T)
c.3715C>T (p.Gln1239Ter)
c.2654C>T
c.3475C>T (p.Gln1159Ter)
c.4111C>T (p.Gln1371Ter)
n.4292C>T
 dbSNP gnomAD v2 gnomAD v4
4g.40121826_40121827insTGTTCA2830536671N4BP2c.*3506_*3507insTGTT (n.*3506_*3507insTGTT)
c.3715_3716insTGTT (p.Gln1239LeufsTer8)
c.2654_2655insTGTT
c.3475_3476insTGTT (p.Gln1159LeufsTer8)
c.4111_4112insTGTT (p.Gln1371LeufsTer8)
n.4292_4293insTGTT
4g.40121827A=CA1452455738N4BP2c.*3507A= (n.*3507A=)
c.3716A= (p.Gln1239=)
c.2655A=
c.3476A= (p.Gln1159=)
c.4112A= (p.Gln1371=)
n.4293A=
4g.40121827A>CCA356725348N4BP2c.*3507A>C (n.*3507A>C)
c.3716A>C (p.Gln1239Pro)
c.2655A>C
c.3476A>C (p.Gln1159Pro)
c.4112A>C (p.Gln1371Pro)
n.4293A>C
 dbSNP gnomAD v3 gnomAD v4
4g.40121827A>GCA356725349N4BP2c.*3507A>G (n.*3507A>G)
c.3716A>G (p.Gln1239Arg)
c.2655A>G
c.3476A>G (p.Gln1159Arg)
c.4112A>G (p.Gln1371Arg)
n.4293A>G
 gnomAD v4
4g.40121827A>TCA356725351N4BP2c.*3507A>T (n.*3507A>T)
c.3716A>T (p.Gln1239Leu)
c.2655A>T
c.3476A>T (p.Gln1159Leu)
c.4112A>T (p.Gln1371Leu)
n.4293A>T
4g.40121828G>ACA439140532N4BP2c.*3508G>A (n.*3508G>A)
c.3717G>A (p.Gln1239=)
c.2656G>A
c.3477G>A (p.Gln1159=)
c.4113G>A (p.Gln1371=)
n.4294G>A
4g.40121828G>CCA356725353N4BP2c.*3508G>C (n.*3508G>C)
c.3717G>C (p.Gln1239His)
c.2656G>C
c.3477G>C (p.Gln1159His)
c.4113G>C (p.Gln1371His)
n.4294G>C
4g.40121828G>TCA356725354N4BP2c.*3508G>T (n.*3508G>T)
c.3717G>T (p.Gln1239His)
c.2656G>T
c.3477G>T (p.Gln1159His)
c.4113G>T (p.Gln1371His)
n.4294G>T
4g.40121829G>ACA356725355N4BP2c.*3509G>A (n.*3509G>A)
c.3718G>A (p.Glu1240Lys)
c.2657G>A
c.3478G>A (p.Glu1160Lys)
c.4114G>A (p.Glu1372Lys)
n.4295G>A
4g.40121829G>CCA356725357N4BP2c.*3509G>C (n.*3509G>C)
c.3718G>C (p.Glu1240Gln)
c.2657G>C
c.3478G>C (p.Glu1160Gln)
c.4114G>C (p.Glu1372Gln)
n.4295G>C
4g.40121829G>TCA356725356N4BP2c.*3509G>T (n.*3509G>T)
c.3718G>T (p.Glu1240Ter)
c.2657G>T
c.3478G>T (p.Glu1160Ter)
c.4114G>T (p.Glu1372Ter)
n.4295G>T
4g.40121830A>CCA356725359N4BP2c.*3510A>C (n.*3510A>C)
c.3719A>C (p.Glu1240Ala)
c.2658A>C
c.3479A>C (p.Glu1160Ala)
c.4115A>C (p.Glu1372Ala)
n.4296A>C
4g.40121830A>GCA356725363N4BP2c.*3510A>G (n.*3510A>G)
c.3719A>G (p.Glu1240Gly)
c.2658A>G
c.3479A>G (p.Glu1160Gly)
c.4115A>G (p.Glu1372Gly)
n.4296A>G
4g.40121830A>TCA356725361N4BP2c.*3510A>T (n.*3510A>T)
c.3719A>T (p.Glu1240Val)
c.2658A>T
c.3479A>T (p.Glu1160Val)
c.4115A>T (p.Glu1372Val)
n.4296A>T
4g.40121831A>CCA356725364N4BP2c.*3511A>C (n.*3511A>C)
c.3720A>C (p.Glu1240Asp)
c.2659A>C
c.3480A>C (p.Glu1160Asp)
c.4116A>C (p.Glu1372Asp)
n.4297A>C
4g.40121831A>GCA439140537N4BP2c.*3511A>G (n.*3511A>G)
c.3720A>G (p.Glu1240=)
c.2659A>G
c.3480A>G (p.Glu1160=)
c.4116A>G (p.Glu1372=)
n.4297A>G
4g.40121831A>TCA356725366N4BP2c.*3511A>T (n.*3511A>T)
c.3720A>T (p.Glu1240Asp)
c.2659A>T
c.3480A>T (p.Glu1160Asp)
c.4116A>T (p.Glu1372Asp)
n.4297A>T
4g.40121832G>ACA356725368N4BP2c.*3512G>A (n.*3512G>A)
c.3721G>A (p.Glu1241Lys)
c.2660G>A
c.3481G>A (p.Glu1161Lys)
c.4117G>A (p.Glu1373Lys)
n.4298G>A
4g.40121832G>CCA356725369N4BP2c.*3512G>C (n.*3512G>C)
c.3721G>C (p.Glu1241Gln)
c.2660G>C
c.3481G>C (p.Glu1161Gln)
c.4117G>C (p.Glu1373Gln)
n.4298G>C
4g.40121832G=CA1452455744N4BP2c.*3512G= (n.*3512G=)
c.3721G= (p.Glu1241=)
c.2660G=
c.3481G= (p.Glu1161=)
c.4117G= (p.Glu1373=)
n.4298G=
4g.40121832G>TCA356725371N4BP2c.*3512G>T (n.*3512G>T)
c.3721G>T (p.Glu1241Ter)
c.2660G>T
c.3481G>T (p.Glu1161Ter)
c.4117G>T (p.Glu1373Ter)
n.4298G>T
 dbSNP gnomAD v2 gnomAD v4
4g.40121833A>CCA356725372N4BP2c.*3513A>C (n.*3513A>C)
c.3722A>C (p.Glu1241Ala)
c.2661A>C
c.3482A>C (p.Glu1161Ala)
c.4118A>C (p.Glu1373Ala)
n.4299A>C
4g.40121833A>GCA356725373N4BP2c.*3513A>G (n.*3513A>G)
c.3722A>G (p.Glu1241Gly)
c.2661A>G
c.3482A>G (p.Glu1161Gly)
c.4118A>G (p.Glu1373Gly)
n.4299A>G
4g.40121833A>TCA356725375N4BP2c.*3513A>T (n.*3513A>T)
c.3722A>T (p.Glu1241Val)
c.2661A>T
c.3482A>T (p.Glu1161Val)
c.4118A>T (p.Glu1373Val)
n.4299A>T
4g.40121833_40121834insCATCA2670413647N4BP2c.*3513_*3514insCAT (n.*3513_*3514insCAT)
c.3722_3723insCAT (p.Glu1241delinsAspIle)
c.2661_2662insCAT
c.3482_3483insCAT (p.Glu1161delinsAspIle)
c.4118_4119insCAT (p.Glu1373delinsAspIle)
n.4299_4300insCAT
 gnomAD v4
4g.40121834A>CCA356725377N4BP2c.*3514A>C (n.*3514A>C)
c.3723A>C (p.Glu1241Asp)
c.2662A>C
c.3483A>C (p.Glu1161Asp)
c.4119A>C (p.Glu1373Asp)
n.4300A>C
4g.40121834A>GCA439140544N4BP2c.*3514A>G (n.*3514A>G)
c.3723A>G (p.Glu1241=)
c.2662A>G
c.3483A>G (p.Glu1161=)
c.4119A>G (p.Glu1373=)
n.4300A>G
4g.40121834A>TCA356725379N4BP2c.*3514A>T (n.*3514A>T)
c.3723A>T (p.Glu1241Asp)
c.2662A>T
c.3483A>T (p.Glu1161Asp)
c.4119A>T (p.Glu1373Asp)
n.4300A>T
4g.40121834_40121835insTGTCA2830536672N4BP2c.*3514_*3515insTGT (n.*3514_*3515insTGT)
c.3723_3724insTGT (p.Glu1241_Leu1242insCys)
c.2662_2663insTGT
c.3483_3484insTGT (p.Glu1161_Leu1162insCys)
c.4119_4120insTGT (p.Glu1373_Leu1374insCys)
n.4300_4301insTGT
4g.40121835C>ACA356725380N4BP2c.*3515C>A (n.*3515C>A)
c.3724C>A (p.Leu1242Ile)
c.2663C>A
c.3484C>A (p.Leu1162Ile)
c.4120C>A (p.Leu1374Ile)
n.4301C>A
 dbSNP gnomAD v4
4g.40121835C=CA1452455748N4BP2c.*3515C= (n.*3515C=)
c.3724C= (p.Leu1242=)
c.2663C=
c.3484C= (p.Leu1162=)
c.4120C= (p.Leu1374=)
n.4301C=
4g.40121835C>GCA356725381N4BP2c.*3515C>G (n.*3515C>G)
c.3724C>G (p.Leu1242Val)
c.2663C>G
c.3484C>G (p.Leu1162Val)
c.4120C>G (p.Leu1374Val)
n.4301C>G
 dbSNP gnomAD v2 gnomAD v4
4g.40121835C>TCA356725383N4BP2c.*3515C>T (n.*3515C>T)
c.3724C>T (p.Leu1242Phe)
c.2663C>T
c.3484C>T (p.Leu1162Phe)
c.4120C>T (p.Leu1374Phe)
n.4301C>T
4g.40121835_40121836delinsCTCA1452455747N4BP2c.*3515_*3516delinsCT (n.*3515_*3516delinsCT)
c.3724_3725delinsCT (p.Leu1242=)
c.2663_2664delinsCT
c.3484_3485delinsCT (p.Leu1162=)
c.4120_4121delinsCT (p.Leu1374=)
n.4301_4302delinsCT

Number of alleles fetched