Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23339836_23339837delinsAGCA2078641221SACSc.4039_4040delinsCT (p.Leu1347=)
c.2186-10353_2186-10352delinsCT (p.=)
c.2431+1608_2431+1609delinsCT (p.=)
c.1789_1790delinsCT (p.Leu597=)
n.1058-10353_1058-10352delinsCT (p.=)
n.2129+1608_2129+1609delinsCT
c.3598_3599delinsCT (p.Leu1200=)
c.4066_4067delinsCT (p.Leu1356=)
c.4090_4091delinsCT (p.Leu1364=)
c.4057_4058delinsCT (p.Leu1353=)
c.4030_4031delinsCT (p.Leu1344=)
13g.23339837delCA16041640SACSc.4039del (p.Leu1347SerfsTer14)
c.2186-10353del (p.=)
c.2431+1608del (p.=)
c.1789del (p.Leu597SerfsTer14)
n.1058-10353del (p.=)
n.2129+1608del
c.3598del (p.Leu1200SerfsTer14)
c.4066del (p.Leu1356SerfsTer14)
c.4090del (p.Leu1364SerfsTer14)
c.4057del (p.Leu1353SerfsTer14)
c.4030del (p.Leu1344SerfsTer14)
ClinVar dbSNP
13g.23339837G>ACA387532838SACSc.4039C>T (p.Leu1347Phe)
c.2186-10353C>T (p.=)
c.2431+1608C>T (p.=)
c.1789C>T (p.Leu597Phe)
n.1058-10353C>T (p.=)
n.2129+1608C>T
c.3598C>T (p.Leu1200Phe)
c.4066C>T (p.Leu1356Phe)
c.4090C>T (p.Leu1364Phe)
c.4057C>T (p.Leu1353Phe)
c.4030C>T (p.Leu1344Phe)
13g.23339837G>CCA387532841SACSc.4039C>G (p.Leu1347Val)
c.2186-10353C>G (p.=)
c.2431+1608C>G (p.=)
c.1789C>G (p.Leu597Val)
n.1058-10353C>G (p.=)
n.2129+1608C>G
c.3598C>G (p.Leu1200Val)
c.4066C>G (p.Leu1356Val)
c.4090C>G (p.Leu1364Val)
c.4057C>G (p.Leu1353Val)
c.4030C>G (p.Leu1344Val)
13g.23339837G>TCA387532843SACSc.4039C>A (p.Leu1347Ile)
c.2186-10353C>A (p.=)
c.2431+1608C>A (p.=)
c.1789C>A (p.Leu597Ile)
n.1058-10353C>A (p.=)
n.2129+1608C>A
c.3598C>A (p.Leu1200Ile)
c.4066C>A (p.Leu1356Ile)
c.4090C>A (p.Leu1364Ile)
c.4057C>A (p.Leu1353Ile)
c.4030C>A (p.Leu1344Ile)
13g.23339838A>CCA387532849SACSc.4038T>G (p.Asp1346Glu)
c.2186-10354T>G (p.=)
c.2431+1607T>G (p.=)
c.1788T>G (p.Asp596Glu)
n.1058-10354T>G (p.=)
n.2129+1607T>G
c.3597T>G (p.Asp1199Glu)
c.4065T>G (p.Asp1355Glu)
c.4089T>G (p.Asp1363Glu)
c.4056T>G (p.Asp1352Glu)
c.4029T>G (p.Asp1343Glu)
13g.23339838A>GCA483163244SACSc.4038T>C (p.Asp1346=)
c.2186-10354T>C (p.=)
c.2431+1607T>C (p.=)
c.1788T>C (p.Asp596=)
n.1058-10354T>C (p.=)
n.2129+1607T>C
c.3597T>C (p.Asp1199=)
c.4065T>C (p.Asp1355=)
c.4089T>C (p.Asp1363=)
c.4056T>C (p.Asp1352=)
c.4029T>C (p.Asp1343=)
13g.23339838A>TCA387532847SACSc.4038T>A (p.Asp1346Glu)
c.2186-10354T>A (p.=)
c.2431+1607T>A (p.=)
c.1788T>A (p.Asp596Glu)
n.1058-10354T>A (p.=)
n.2129+1607T>A
c.3597T>A (p.Asp1199Glu)
c.4065T>A (p.Asp1355Glu)
c.4089T>A (p.Asp1363Glu)
c.4056T>A (p.Asp1352Glu)
c.4029T>A (p.Asp1343Glu)
13g.23339839T>ACA387532851SACSc.4037A>T (p.Asp1346Val)
c.2186-10355A>T (p.=)
c.2431+1606A>T (p.=)
c.1787A>T (p.Asp596Val)
n.1058-10355A>T (p.=)
n.2129+1606A>T
c.3596A>T (p.Asp1199Val)
c.4064A>T (p.Asp1355Val)
c.4088A>T (p.Asp1363Val)
c.4055A>T (p.Asp1352Val)
c.4028A>T (p.Asp1343Val)
13g.23339839T>CCA387532853SACSc.4037A>G (p.Asp1346Gly)
c.2186-10355A>G (p.=)
c.2431+1606A>G (p.=)
c.1787A>G (p.Asp596Gly)
n.1058-10355A>G (p.=)
n.2129+1606A>G
c.3596A>G (p.Asp1199Gly)
c.4064A>G (p.Asp1355Gly)
c.4088A>G (p.Asp1363Gly)
c.4055A>G (p.Asp1352Gly)
c.4028A>G (p.Asp1343Gly)
13g.23339839T>GCA387532855SACSc.4037A>C (p.Asp1346Ala)
c.2186-10355A>C (p.=)
c.2431+1606A>C (p.=)
c.1787A>C (p.Asp596Ala)
n.1058-10355A>C (p.=)
n.2129+1606A>C
c.3596A>C (p.Asp1199Ala)
c.4064A>C (p.Asp1355Ala)
c.4088A>C (p.Asp1363Ala)
c.4055A>C (p.Asp1352Ala)
c.4028A>C (p.Asp1343Ala)
13g.23339840C>ACA387532857SACSc.4036G>T (p.Asp1346Tyr)
c.2186-10356G>T (p.=)
c.2431+1605G>T (p.=)
c.1786G>T (p.Asp596Tyr)
n.1058-10356G>T (p.=)
n.2129+1605G>T
c.3595G>T (p.Asp1199Tyr)
c.4063G>T (p.Asp1355Tyr)
c.4087G>T (p.Asp1363Tyr)
c.4054G>T (p.Asp1352Tyr)
c.4027G>T (p.Asp1343Tyr)
13g.23339840C=CA2078641232SACSc.4036G= (p.Asp1346=)
c.2186-10356G= (p.=)
c.2431+1605G= (p.=)
c.1786G= (p.Asp596=)
n.1058-10356G= (p.=)
n.2129+1605G=
c.3595G= (p.Asp1199=)
c.4063G= (p.Asp1355=)
c.4087G= (p.Asp1363=)
c.4054G= (p.Asp1352=)
c.4027G= (p.Asp1343=)
13g.23339840C>GCA6911442SACSc.4036G>C (p.Asp1346His)
c.2186-10356G>C (p.=)
c.2431+1605G>C (p.=)
c.1786G>C (p.Asp596His)
n.1058-10356G>C (p.=)
n.2129+1605G>C
c.3595G>C (p.Asp1199His)
c.4063G>C (p.Asp1355His)
c.4087G>C (p.Asp1363His)
c.4054G>C (p.Asp1352His)
c.4027G>C (p.Asp1343His)
dbSNP ExAC gnomAD
13g.23339840C>TCA387532859SACSc.4036G>A (p.Asp1346Asn)
c.2186-10356G>A (p.=)
c.2431+1605G>A (p.=)
c.1786G>A (p.Asp596Asn)
n.1058-10356G>A (p.=)
n.2129+1605G>A
c.3595G>A (p.Asp1199Asn)
c.4063G>A (p.Asp1355Asn)
c.4087G>A (p.Asp1363Asn)
c.4054G>A (p.Asp1352Asn)
c.4027G>A (p.Asp1343Asn)
13g.23339841T>ACA387532862SACSc.4035A>T (p.Gln1345His)
c.2186-10357A>T (p.=)
c.2431+1604A>T (p.=)
c.1785A>T (p.Gln595His)
n.1058-10357A>T (p.=)
n.2129+1604A>T
c.3594A>T (p.Gln1198His)
c.4062A>T (p.Gln1354His)
c.4086A>T (p.Gln1362His)
c.4053A>T (p.Gln1351His)
c.4026A>T (p.Gln1342His)
13g.23339841T>CCA483163251SACSc.4035A>G (p.Gln1345=)
c.2186-10357A>G (p.=)
c.2431+1604A>G (p.=)
c.1785A>G (p.Gln595=)
n.1058-10357A>G (p.=)
n.2129+1604A>G
c.3594A>G (p.Gln1198=)
c.4062A>G (p.Gln1354=)
c.4086A>G (p.Gln1362=)
c.4053A>G (p.Gln1351=)
c.4026A>G (p.Gln1342=)
13g.23339841T>GCA387532867SACSc.4035A>C (p.Gln1345His)
c.2186-10357A>C (p.=)
c.2431+1604A>C (p.=)
c.1785A>C (p.Gln595His)
n.1058-10357A>C (p.=)
n.2129+1604A>C
c.3594A>C (p.Gln1198His)
c.4062A>C (p.Gln1354His)
c.4086A>C (p.Gln1362His)
c.4053A>C (p.Gln1351His)
c.4026A>C (p.Gln1342His)
13g.23339842T>ACA387532870SACSc.4034A>T (p.Gln1345Leu)
c.2186-10358A>T (p.=)
c.2431+1603A>T (p.=)
c.1784A>T (p.Gln595Leu)
n.1058-10358A>T (p.=)
n.2129+1603A>T
c.3593A>T (p.Gln1198Leu)
c.4061A>T (p.Gln1354Leu)
c.4085A>T (p.Gln1362Leu)
c.4052A>T (p.Gln1351Leu)
c.4025A>T (p.Gln1342Leu)
13g.23339842T>CCA387532876SACSc.4034A>G (p.Gln1345Arg)
c.2186-10358A>G (p.=)
c.2431+1603A>G (p.=)
c.1784A>G (p.Gln595Arg)
n.1058-10358A>G (p.=)
n.2129+1603A>G
c.3593A>G (p.Gln1198Arg)
c.4061A>G (p.Gln1354Arg)
c.4085A>G (p.Gln1362Arg)
c.4052A>G (p.Gln1351Arg)
c.4025A>G (p.Gln1342Arg)
13g.23339842T>GCA387532878SACSc.4034A>C (p.Gln1345Pro)
c.2186-10358A>C (p.=)
c.2431+1603A>C (p.=)
c.1784A>C (p.Gln595Pro)
n.1058-10358A>C (p.=)
n.2129+1603A>C
c.3593A>C (p.Gln1198Pro)
c.4061A>C (p.Gln1354Pro)
c.4085A>C (p.Gln1362Pro)
c.4052A>C (p.Gln1351Pro)
c.4025A>C (p.Gln1342Pro)
13g.23339842T=CA2078641235SACSc.4034A= (p.Gln1345=)
c.2186-10358A= (p.=)
c.2431+1603A= (p.=)
c.1784A= (p.Gln595=)
n.1058-10358A= (p.=)
n.2129+1603A=
c.3593A= (p.Gln1198=)
c.4061A= (p.Gln1354=)
c.4085A= (p.Gln1362=)
c.4052A= (p.Gln1351=)
c.4025A= (p.Gln1342=)
13g.23339843G>ACA6911443SACSc.4033C>T (p.Gln1345Ter)
c.2186-10359C>T (p.=)
c.2431+1602C>T (p.=)
c.1783C>T (p.Gln595Ter)
n.1058-10359C>T (p.=)
n.2129+1602C>T
c.3592C>T (p.Gln1198Ter)
c.4060C>T (p.Gln1354Ter)
c.4084C>T (p.Gln1362Ter)
c.4051C>T (p.Gln1351Ter)
c.4024C>T (p.Gln1342Ter)
dbSNP ExAC gnomAD
13g.23339843G>CCA387532883SACSc.4033C>G (p.Gln1345Glu)
c.2186-10359C>G (p.=)
c.2431+1602C>G (p.=)
c.1783C>G (p.Gln595Glu)
n.1058-10359C>G (p.=)
n.2129+1602C>G
c.3592C>G (p.Gln1198Glu)
c.4060C>G (p.Gln1354Glu)
c.4084C>G (p.Gln1362Glu)
c.4051C>G (p.Gln1351Glu)
c.4024C>G (p.Gln1342Glu)
13g.23339843G=CA2078641239SACSc.4033C= (p.Gln1345=)
c.2186-10359C= (p.=)
c.2431+1602C= (p.=)
c.1783C= (p.Gln595=)
n.1058-10359C= (p.=)
n.2129+1602C=
c.3592C= (p.Gln1198=)
c.4060C= (p.Gln1354=)
c.4084C= (p.Gln1362=)
c.4051C= (p.Gln1351=)
c.4024C= (p.Gln1342=)
13g.23339843G>TCA387532881SACSc.4033C>A (p.Gln1345Lys)
c.2186-10359C>A (p.=)
c.2431+1602C>A (p.=)
c.1783C>A (p.Gln595Lys)
n.1058-10359C>A (p.=)
n.2129+1602C>A
c.3592C>A (p.Gln1198Lys)
c.4060C>A (p.Gln1354Lys)
c.4084C>A (p.Gln1362Lys)
c.4051C>A (p.Gln1351Lys)
c.4024C>A (p.Gln1342Lys)
13g.23339844dupCA253515SACSc.4033dup (p.Gln1345ProfsTer5)
c.2186-10359dup (p.=)
c.2431+1602dup (p.=)
c.1783dup (p.Gln595ProfsTer5)
n.1058-10359dup (p.=)
n.2129+1602dup
c.3592dup (p.Gln1198ProfsTer5)
c.4060dup (p.Gln1354ProfsTer5)
c.4084dup (p.Gln1362ProfsTer5)
c.4051dup (p.Gln1351ProfsTer5)
c.4024dup (p.Gln1342ProfsTer5)
ClinVar dbSNP
13g.23339844G>ACA483162575SACSc.4032C>T (p.Asp1344=)
c.2186-10360C>T (p.=)
c.2431+1601C>T (p.=)
c.1782C>T (p.Asp594=)
n.1058-10360C>T (p.=)
n.2129+1601C>T
c.3591C>T (p.Asp1197=)
c.4059C>T (p.Asp1353=)
c.4083C>T (p.Asp1361=)
c.4050C>T (p.Asp1350=)
c.4023C>T (p.Asp1341=)
13g.23339844G>CCA387532886SACSc.4032C>G (p.Asp1344Glu)
c.2186-10360C>G (p.=)
c.2431+1601C>G (p.=)
c.1782C>G (p.Asp594Glu)
n.1058-10360C>G (p.=)
n.2129+1601C>G
c.3591C>G (p.Asp1197Glu)
c.4059C>G (p.Asp1353Glu)
c.4083C>G (p.Asp1361Glu)
c.4050C>G (p.Asp1350Glu)
c.4023C>G (p.Asp1341Glu)
13g.23339844G>TCA387532887SACSc.4032C>A (p.Asp1344Glu)
c.2186-10360C>A (p.=)
c.2431+1601C>A (p.=)
c.1782C>A (p.Asp594Glu)
n.1058-10360C>A (p.=)
n.2129+1601C>A
c.3591C>A (p.Asp1197Glu)
c.4059C>A (p.Asp1353Glu)
c.4083C>A (p.Asp1361Glu)
c.4050C>A (p.Asp1350Glu)
c.4023C>A (p.Asp1341Glu)
13g.23339845T>ACA387532890SACSc.4031A>T (p.Asp1344Val)
c.2186-10361A>T (p.=)
c.2431+1600A>T (p.=)
c.1781A>T (p.Asp594Val)
n.1058-10361A>T (p.=)
n.2129+1600A>T
c.3590A>T (p.Asp1197Val)
c.4058A>T (p.Asp1353Val)
c.4082A>T (p.Asp1361Val)
c.4049A>T (p.Asp1350Val)
c.4022A>T (p.Asp1341Val)
13g.23339845T>CCA387532892SACSc.4031A>G (p.Asp1344Gly)
c.2186-10361A>G (p.=)
c.2431+1600A>G (p.=)
c.1781A>G (p.Asp594Gly)
n.1058-10361A>G (p.=)
n.2129+1600A>G
c.3590A>G (p.Asp1197Gly)
c.4058A>G (p.Asp1353Gly)
c.4082A>G (p.Asp1361Gly)
c.4049A>G (p.Asp1350Gly)
c.4022A>G (p.Asp1341Gly)
13g.23339845T>GCA387532894SACSc.4031A>C (p.Asp1344Ala)
c.2186-10361A>C (p.=)
c.2431+1600A>C (p.=)
c.1781A>C (p.Asp594Ala)
n.1058-10361A>C (p.=)
n.2129+1600A>C
c.3590A>C (p.Asp1197Ala)
c.4058A>C (p.Asp1353Ala)
c.4082A>C (p.Asp1361Ala)
c.4049A>C (p.Asp1350Ala)
c.4022A>C (p.Asp1341Ala)
13g.23339846C>ACA387532901SACSc.4030G>T (p.Asp1344Tyr)
c.2186-10362G>T (p.=)
c.2431+1599G>T (p.=)
c.1780G>T (p.Asp594Tyr)
n.1058-10362G>T (p.=)
n.2129+1599G>T
c.3589G>T (p.Asp1197Tyr)
c.4057G>T (p.Asp1353Tyr)
c.4081G>T (p.Asp1361Tyr)
c.4048G>T (p.Asp1350Tyr)
c.4021G>T (p.Asp1341Tyr)
13g.23339846C=CA2078641247SACSc.4030G= (p.Asp1344=)
c.2186-10362G= (p.=)
c.2431+1599G= (p.=)
c.1780G= (p.Asp594=)
n.1058-10362G= (p.=)
n.2129+1599G=
c.3589G= (p.Asp1197=)
c.4057G= (p.Asp1353=)
c.4081G= (p.Asp1361=)
c.4048G= (p.Asp1350=)
c.4021G= (p.Asp1341=)
13g.23339846C>GCA387532897SACSc.4030G>C (p.Asp1344His)
c.2186-10362G>C (p.=)
c.2431+1599G>C (p.=)
c.1780G>C (p.Asp594His)
n.1058-10362G>C (p.=)
n.2129+1599G>C
c.3589G>C (p.Asp1197His)
c.4057G>C (p.Asp1353His)
c.4081G>C (p.Asp1361His)
c.4048G>C (p.Asp1350His)
c.4021G>C (p.Asp1341His)
13g.23339846C>TCA387532899SACSc.4030G>A (p.Asp1344Asn)
c.2186-10362G>A (p.=)
c.2431+1599G>A (p.=)
c.1780G>A (p.Asp594Asn)
n.1058-10362G>A (p.=)
n.2129+1599G>A
c.3589G>A (p.Asp1197Asn)
c.4057G>A (p.Asp1353Asn)
c.4081G>A (p.Asp1361Asn)
c.4048G>A (p.Asp1350Asn)
c.4021G>A (p.Asp1341Asn)
13g.23339847A>CCA387532902SACSc.4029T>G (p.Ser1343Arg)
c.2186-10363T>G (p.=)
c.2431+1598T>G (p.=)
c.1779T>G (p.Ser593Arg)
n.1058-10363T>G (p.=)
n.2129+1598T>G
c.3588T>G (p.Ser1196Arg)
c.4056T>G (p.Ser1352Arg)
c.4080T>G (p.Ser1360Arg)
c.4047T>G (p.Ser1349Arg)
c.4020T>G (p.Ser1340Arg)
13g.23339847A>GCA483162582SACSc.4029T>C (p.Ser1343=)
c.2186-10363T>C (p.=)
c.2431+1598T>C (p.=)
c.1779T>C (p.Ser593=)
n.1058-10363T>C (p.=)
n.2129+1598T>C
c.3588T>C (p.Ser1196=)
c.4056T>C (p.Ser1352=)
c.4080T>C (p.Ser1360=)
c.4047T>C (p.Ser1349=)
c.4020T>C (p.Ser1340=)
13g.23339847A>TCA387532904SACSc.4029T>A (p.Ser1343Arg)
c.2186-10363T>A (p.=)
c.2431+1598T>A (p.=)
c.1779T>A (p.Ser593Arg)
n.1058-10363T>A (p.=)
n.2129+1598T>A
c.3588T>A (p.Ser1196Arg)
c.4056T>A (p.Ser1352Arg)
c.4080T>A (p.Ser1360Arg)
c.4047T>A (p.Ser1349Arg)
c.4020T>A (p.Ser1340Arg)
13g.23339848C>ACA387532906SACSc.4028G>T (p.Ser1343Ile)
c.2186-10364G>T (p.=)
c.2431+1597G>T (p.=)
c.1778G>T (p.Ser593Ile)
n.1058-10364G>T (p.=)
n.2129+1597G>T
c.3587G>T (p.Ser1196Ile)
c.4055G>T (p.Ser1352Ile)
c.4079G>T (p.Ser1360Ile)
c.4046G>T (p.Ser1349Ile)
c.4019G>T (p.Ser1340Ile)
13g.23339848C>GCA387532907SACSc.4028G>C (p.Ser1343Thr)
c.2186-10364G>C (p.=)
c.2431+1597G>C (p.=)
c.1778G>C (p.Ser593Thr)
n.1058-10364G>C (p.=)
n.2129+1597G>C
c.3587G>C (p.Ser1196Thr)
c.4055G>C (p.Ser1352Thr)
c.4079G>C (p.Ser1360Thr)
c.4046G>C (p.Ser1349Thr)
c.4019G>C (p.Ser1340Thr)
13g.23339848C>TCA387532908SACSc.4028G>A (p.Ser1343Asn)
c.2186-10364G>A (p.=)
c.2431+1597G>A (p.=)
c.1778G>A (p.Ser593Asn)
n.1058-10364G>A (p.=)
n.2129+1597G>A
c.3587G>A (p.Ser1196Asn)
c.4055G>A (p.Ser1352Asn)
c.4079G>A (p.Ser1360Asn)
c.4046G>A (p.Ser1349Asn)
c.4019G>A (p.Ser1340Asn)
13g.23339849T>ACA387532913SACSc.4027A>T (p.Ser1343Cys)
c.2186-10365A>T (p.=)
c.2431+1596A>T (p.=)
c.1777A>T (p.Ser593Cys)
n.1058-10365A>T (p.=)
n.2129+1596A>T
c.3586A>T (p.Ser1196Cys)
c.4054A>T (p.Ser1352Cys)
c.4078A>T (p.Ser1360Cys)
c.4045A>T (p.Ser1349Cys)
c.4018A>T (p.Ser1340Cys)
13g.23339849T>CCA387532910SACSc.4027A>G (p.Ser1343Gly)
c.2186-10365A>G (p.=)
c.2431+1596A>G (p.=)
c.1777A>G (p.Ser593Gly)
n.1058-10365A>G (p.=)
n.2129+1596A>G
c.3586A>G (p.Ser1196Gly)
c.4054A>G (p.Ser1352Gly)
c.4078A>G (p.Ser1360Gly)
c.4045A>G (p.Ser1349Gly)
c.4018A>G (p.Ser1340Gly)
13g.23339849T>GCA387532909SACSc.4027A>C (p.Ser1343Arg)
c.2186-10365A>C (p.=)
c.2431+1596A>C (p.=)
c.1777A>C (p.Ser593Arg)
n.1058-10365A>C (p.=)
n.2129+1596A>C
c.3586A>C (p.Ser1196Arg)
c.4054A>C (p.Ser1352Arg)
c.4078A>C (p.Ser1360Arg)
c.4045A>C (p.Ser1349Arg)
c.4018A>C (p.Ser1340Arg)
13g.23339852delCA645585079SACSc.4027del (p.Ser1343ValfsTer18)
c.2186-10365del (p.=)
c.2431+1596del (p.=)
c.1777del (p.Ser593ValfsTer18)
n.1058-10365del (p.=)
n.2129+1596del
c.3586del (p.Ser1196ValfsTer18)
c.4054del (p.Ser1352ValfsTer18)
c.4078del (p.Ser1360ValfsTer18)
c.4045del (p.Ser1349ValfsTer18)
c.4018del (p.Ser1340ValfsTer18)
COSMIC COSMIC
13g.23339850T>ACA387532915SACSc.4026A>T (p.Lys1342Asn)
c.2186-10366A>T (p.=)
c.2431+1595A>T (p.=)
c.1776A>T (p.Lys592Asn)
n.1058-10366A>T (p.=)
n.2129+1595A>T
c.3585A>T (p.Lys1195Asn)
c.4053A>T (p.Lys1351Asn)
c.4077A>T (p.Lys1359Asn)
c.4044A>T (p.Lys1348Asn)
c.4017A>T (p.Lys1339Asn)
13g.23339850T>CCA483162587SACSc.4026A>G (p.Lys1342=)
c.2186-10366A>G (p.=)
c.2431+1595A>G (p.=)
c.1776A>G (p.Lys592=)
n.1058-10366A>G (p.=)
n.2129+1595A>G
c.3585A>G (p.Lys1195=)
c.4053A>G (p.Lys1351=)
c.4077A>G (p.Lys1359=)
c.4044A>G (p.Lys1348=)
c.4017A>G (p.Lys1339=)
13g.23339850T>GCA387532917SACSc.4026A>C (p.Lys1342Asn)
c.2186-10366A>C (p.=)
c.2431+1595A>C (p.=)
c.1776A>C (p.Lys592Asn)
n.1058-10366A>C (p.=)
n.2129+1595A>C
c.3585A>C (p.Lys1195Asn)
c.4053A>C (p.Lys1351Asn)
c.4077A>C (p.Lys1359Asn)
c.4044A>C (p.Lys1348Asn)
c.4017A>C (p.Lys1339Asn)

Number of alleles fetched