Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23355019G>ACA6911889SACSc.1593C>T (p.Ile531=)
n.1731C>T
c.1584C>T (p.Ile528=)
n.3950C>T
c.-658C>T (n.-658C>T)
c.465C>T (p.Ile155=)
c.1291C>T
c.1152C>T (p.Ile384=)
c.1617C>T (p.Ile539=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.23355019G>CCA387547682SACSc.1593C>G (p.Ile531Met)
n.1731C>G
c.1584C>G (p.Ile528Met)
n.3950C>G
c.-658C>G (n.-658C>G)
c.465C>G (p.Ile155Met)
c.1291C>G
c.1152C>G (p.Ile384Met)
c.1617C>G (p.Ile539Met)
 ClinVar dbSNP
13g.23355019G=CA2078658129SACSc.1593C= (p.Ile531=)
n.1731C=
c.1584C= (p.Ile528=)
n.3950C=
c.-658C= (n.-658C=)
c.465C= (p.Ile155=)
c.1291C=
c.1152C= (p.Ile384=)
c.1617C= (p.Ile539=)
13g.23355019G>TCA483164066SACSc.1593C>A (p.Ile531=)
n.1731C>A
c.1584C>A (p.Ile528=)
n.3950C>A
c.-658C>A (n.-658C>A)
c.465C>A (p.Ile155=)
c.1291C>A
c.1152C>A (p.Ile384=)
c.1617C>A (p.Ile539=)
13g.23355020A=CA2078658133SACSc.1592T= (p.Ile531=)
n.1730T=
c.1583T= (p.Ile528=)
n.3949T=
c.-659T= (n.-659T=)
c.464T= (p.Ile155=)
c.1290T=
c.1151T= (p.Ile384=)
c.1616T= (p.Ile539=)
13g.23355020A>CCA387547684SACSc.1592T>G (p.Ile531Ser)
n.1730T>G
c.1583T>G (p.Ile528Ser)
n.3949T>G
c.-659T>G (n.-659T>G)
c.464T>G (p.Ile155Ser)
c.1290T>G
c.1151T>G (p.Ile384Ser)
c.1616T>G (p.Ile539Ser)
13g.23355020A>GCA6911890SACSc.1592T>C (p.Ile531Thr)
n.1730T>C
c.1583T>C (p.Ile528Thr)
n.3949T>C
c.-659T>C (n.-659T>C)
c.464T>C (p.Ile155Thr)
c.1290T>C
c.1151T>C (p.Ile384Thr)
c.1616T>C (p.Ile539Thr)
 ClinVar dbSNP ExAC gnomAD v2
13g.23355020A>TCA387547683SACSc.1592T>A (p.Ile531Asn)
n.1730T>A
c.1583T>A (p.Ile528Asn)
n.3949T>A
c.-659T>A (n.-659T>A)
c.464T>A (p.Ile155Asn)
c.1290T>A
c.1151T>A (p.Ile384Asn)
c.1616T>A (p.Ile539Asn)
13g.23355020_23355021delinsATCA2078658135SACSc.1591_1592delinsAT (p.Ile531=)
n.1729_1730delinsAT
c.1582_1583delinsAT (p.Ile528=)
n.3948_3949delinsAT
c.-660_-659delinsAT (n.-660_-659delinsAT)
c.463_464delinsAT (p.Ile155=)
c.1289_1290delinsAT
c.1150_1151delinsAT (p.Ile384=)
c.1615_1616delinsAT (p.Ile539=)
13g.23355021delCA6911891SACSc.1591del (p.Ile531SerfsTer19)
n.1729del
c.1582del (p.Ile528SerfsTer19)
n.3948del
c.-660del (n.-660del)
c.463del (p.Ile155SerfsTer19)
c.1289del
c.1150del (p.Ile384SerfsTer19)
c.1615del (p.Ile539SerfsTer19)
 dbSNP ExAC gnomAD v2
13g.23355021T>ACA387547685SACSc.1591A>T (p.Ile531Phe)
n.1729A>T
c.1582A>T (p.Ile528Phe)
n.3948A>T
c.-660A>T (n.-660A>T)
c.463A>T (p.Ile155Phe)
c.1289A>T
c.1150A>T (p.Ile384Phe)
c.1615A>T (p.Ile539Phe)
13g.23355021T>CCA387547686SACSc.1591A>G (p.Ile531Val)
n.1729A>G
c.1582A>G (p.Ile528Val)
n.3948A>G
c.-660A>G (n.-660A>G)
c.463A>G (p.Ile155Val)
c.1289A>G
c.1150A>G (p.Ile384Val)
c.1615A>G (p.Ile539Val)
13g.23355021T>GCA387547687SACSc.1591A>C (p.Ile531Leu)
n.1729A>C
c.1582A>C (p.Ile528Leu)
n.3948A>C
c.-660A>C (n.-660A>C)
c.463A>C (p.Ile155Leu)
c.1289A>C
c.1150A>C (p.Ile384Leu)
c.1615A>C (p.Ile539Leu)
13g.23355022A>CCA483164067SACSc.1590T>G (p.Val530=)
n.1728T>G
c.1581T>G (p.Val527=)
n.3947T>G
c.-661T>G (n.-661T>G)
c.462T>G (p.Val154=)
c.1288T>G
c.1149T>G (p.Val383=)
c.1614T>G (p.Val538=)
13g.23355022A>GCA483164069SACSc.1590T>C (p.Val530=)
n.1728T>C
c.1581T>C (p.Val527=)
n.3947T>C
c.-661T>C (n.-661T>C)
c.462T>C (p.Val154=)
c.1288T>C
c.1149T>C (p.Val383=)
c.1614T>C (p.Val538=)
 ClinVar dbSNP gnomAD v4
13g.23355022A>TCA483164068SACSc.1590T>A (p.Val530=)
n.1728T>A
c.1581T>A (p.Val527=)
n.3947T>A
c.-661T>A (n.-661T>A)
c.462T>A (p.Val154=)
c.1288T>A
c.1149T>A (p.Val383=)
c.1614T>A (p.Val538=)
13g.23355023delCA387547688SACSc.1590del (p.Ile531SerfsTer19)
n.1728del
c.1581del (p.Ile528SerfsTer19)
n.3947del
c.-661del (n.-661del)
c.462del (p.Ile155SerfsTer19)
c.1288del
c.1149del (p.Ile384SerfsTer19)
c.1614del (p.Ile539SerfsTer19)
13g.23355023A=CA2078658139SACSc.1589T= (p.Val530=)
n.1727T=
c.1580T= (p.Val527=)
n.3946T=
c.-662T= (n.-662T=)
c.461T= (p.Val154=)
c.1287T=
c.1148T= (p.Val383=)
c.1613T= (p.Val538=)
13g.23355023A>CCA387547689SACSc.1589T>G (p.Val530Gly)
n.1727T>G
c.1580T>G (p.Val527Gly)
n.3946T>G
c.-662T>G (n.-662T>G)
c.461T>G (p.Val154Gly)
c.1287T>G
c.1148T>G (p.Val383Gly)
c.1613T>G (p.Val538Gly)
13g.23355023A>GCA6911892SACSc.1589T>C (p.Val530Ala)
n.1727T>C
c.1580T>C (p.Val527Ala)
n.3946T>C
c.-662T>C (n.-662T>C)
c.461T>C (p.Val154Ala)
c.1287T>C
c.1148T>C (p.Val383Ala)
c.1613T>C (p.Val538Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.23355023A>TCA387547690SACSc.1589T>A (p.Val530Asp)
n.1727T>A
c.1580T>A (p.Val527Asp)
n.3946T>A
c.-662T>A (n.-662T>A)
c.461T>A (p.Val154Asp)
c.1287T>A
c.1148T>A (p.Val383Asp)
c.1613T>A (p.Val538Asp)
13g.23355024C>ACA387547691SACSc.1588G>T (p.Val530Phe)
n.1726G>T
c.1579G>T (p.Val527Phe)
n.3945G>T
c.-663G>T (n.-663G>T)
c.460G>T (p.Val154Phe)
c.1286G>T
c.1147G>T (p.Val383Phe)
c.1612G>T (p.Val538Phe)
13g.23355024C=CA2078658142SACSc.1588G= (p.Val530=)
n.1726G=
c.1579G= (p.Val527=)
n.3945G=
c.-663G= (n.-663G=)
c.460G= (p.Val154=)
c.1286G=
c.1147G= (p.Val383=)
c.1612G= (p.Val538=)
13g.23355024C>GCA387547692SACSc.1588G>C (p.Val530Leu)
n.1726G>C
c.1579G>C (p.Val527Leu)
n.3945G>C
c.-663G>C (n.-663G>C)
c.460G>C (p.Val154Leu)
c.1286G>C
c.1147G>C (p.Val383Leu)
c.1612G>C (p.Val538Leu)
13g.23355024C>TCA6911893SACSc.1588G>A (p.Val530Ile)
n.1726G>A
c.1579G>A (p.Val527Ile)
n.3945G>A
c.-663G>A (n.-663G>A)
c.460G>A (p.Val154Ile)
c.1286G>A
c.1147G>A (p.Val383Ile)
c.1612G>A (p.Val538Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.23355025A>CCA387547694SACSc.1587T>G (p.Asp529Glu)
n.1725T>G
c.1578T>G (p.Asp526Glu)
n.3944T>G
c.-664T>G (n.-664T>G)
c.459T>G (p.Asp153Glu)
c.1285T>G
c.1146T>G (p.Asp382Glu)
c.1611T>G (p.Asp537Glu)
13g.23355025A>GCA483164070SACSc.1587T>C (p.Asp529=)
n.1725T>C
c.1578T>C (p.Asp526=)
n.3944T>C
c.-664T>C (n.-664T>C)
c.459T>C (p.Asp153=)
c.1285T>C
c.1146T>C (p.Asp382=)
c.1611T>C (p.Asp537=)
13g.23355025A>TCA387547693SACSc.1587T>A (p.Asp529Glu)
n.1725T>A
c.1578T>A (p.Asp526Glu)
n.3944T>A
c.-664T>A (n.-664T>A)
c.459T>A (p.Asp153Glu)
c.1285T>A
c.1146T>A (p.Asp382Glu)
c.1611T>A (p.Asp537Glu)
13g.23355026T>ACA387547696SACSc.1586A>T (p.Asp529Val)
n.1724A>T
c.1577A>T (p.Asp526Val)
n.3943A>T
c.-665A>T (n.-665A>T)
c.458A>T (p.Asp153Val)
c.1284A>T
c.1145A>T (p.Asp382Val)
c.1610A>T (p.Asp537Val)
13g.23355026T>CCA387547698SACSc.1586A>G (p.Asp529Gly)
n.1724A>G
c.1577A>G (p.Asp526Gly)
n.3943A>G
c.-665A>G (n.-665A>G)
c.458A>G (p.Asp153Gly)
c.1284A>G
c.1145A>G (p.Asp382Gly)
c.1610A>G (p.Asp537Gly)
13g.23355026T>GCA387547700SACSc.1586A>C (p.Asp529Ala)
n.1724A>C
c.1577A>C (p.Asp526Ala)
n.3943A>C
c.-665A>C (n.-665A>C)
c.458A>C (p.Asp153Ala)
c.1284A>C
c.1145A>C (p.Asp382Ala)
c.1610A>C (p.Asp537Ala)
13g.23355027C>ACA387547702SACSc.1585G>T (p.Asp529Tyr)
n.1723G>T
c.1576G>T (p.Asp526Tyr)
n.3942G>T
c.-666G>T (n.-666G>T)
c.457G>T (p.Asp153Tyr)
c.1283G>T
c.1144G>T (p.Asp382Tyr)
c.1609G>T (p.Asp537Tyr)
13g.23355027C>GCA387547704SACSc.1585G>C (p.Asp529His)
n.1723G>C
c.1576G>C (p.Asp526His)
n.3942G>C
c.-666G>C (n.-666G>C)
c.457G>C (p.Asp153His)
c.1283G>C
c.1144G>C (p.Asp382His)
c.1609G>C (p.Asp537His)
13g.23355027C>TCA387547707SACSc.1585G>A (p.Asp529Asn)
n.1723G>A
c.1576G>A (p.Asp526Asn)
n.3942G>A
c.-666G>A (n.-666G>A)
c.457G>A (p.Asp153Asn)
c.1283G>A
c.1144G>A (p.Asp382Asn)
c.1609G>A (p.Asp537Asn)
13g.23355028A>CCA483164072SACSc.1584T>G (p.Val528=)
n.1722T>G
c.1575T>G (p.Val525=)
n.3941T>G
c.-667T>G (n.-667T>G)
c.456T>G (p.Val152=)
c.1282T>G
c.1143T>G (p.Val381=)
c.1608T>G (p.Val536=)
13g.23355028A>GCA483164071SACSc.1584T>C (p.Val528=)
n.1722T>C
c.1575T>C (p.Val525=)
n.3941T>C
c.-667T>C (n.-667T>C)
c.456T>C (p.Val152=)
c.1282T>C
c.1143T>C (p.Val381=)
c.1608T>C (p.Val536=)
13g.23355028A>TCA483164073SACSc.1584T>A (p.Val528=)
n.1722T>A
c.1575T>A (p.Val525=)
n.3941T>A
c.-667T>A (n.-667T>A)
c.456T>A (p.Val152=)
c.1282T>A
c.1143T>A (p.Val381=)
c.1608T>A (p.Val536=)
13g.23355029A>CCA387547709SACSc.1583T>G (p.Val528Gly)
n.1721T>G
c.1574T>G (p.Val525Gly)
n.3940T>G
c.-668T>G (n.-668T>G)
c.455T>G (p.Val152Gly)
c.1281T>G
c.1142T>G (p.Val381Gly)
c.1607T>G (p.Val536Gly)
13g.23355029A>GCA387547711SACSc.1583T>C (p.Val528Ala)
n.1721T>C
c.1574T>C (p.Val525Ala)
n.3940T>C
c.-668T>C (n.-668T>C)
c.455T>C (p.Val152Ala)
c.1281T>C
c.1142T>C (p.Val381Ala)
c.1607T>C (p.Val536Ala)
13g.23355029A>TCA387547713SACSc.1583T>A (p.Val528Asp)
n.1721T>A
c.1574T>A (p.Val525Asp)
n.3940T>A
c.-668T>A (n.-668T>A)
c.455T>A (p.Val152Asp)
c.1281T>A
c.1142T>A (p.Val381Asp)
c.1607T>A (p.Val536Asp)
13g.23355030C>ACA387547716SACSc.1582G>T (p.Val528Phe)
n.1720G>T
c.1573G>T (p.Val525Phe)
n.3939G>T
c.-669G>T (n.-669G>T)
c.454G>T (p.Val152Phe)
c.1280G>T
c.1141G>T (p.Val381Phe)
c.1606G>T (p.Val536Phe)
 gnomAD v4
13g.23355030C>GCA387547718SACSc.1582G>C (p.Val528Leu)
n.1720G>C
c.1573G>C (p.Val525Leu)
n.3939G>C
c.-669G>C (n.-669G>C)
c.454G>C (p.Val152Leu)
c.1280G>C
c.1141G>C (p.Val381Leu)
c.1606G>C (p.Val536Leu)
13g.23355030C>TCA387547720SACSc.1582G>A (p.Val528Ile)
n.1720G>A
c.1573G>A (p.Val525Ile)
n.3939G>A
c.-669G>A (n.-669G>A)
c.454G>A (p.Val152Ile)
c.1280G>A
c.1141G>A (p.Val381Ile)
c.1606G>A (p.Val536Ile)
13g.23355031T>ACA483164074SACSc.1581A>T (p.Ser527=)
n.1719A>T
c.1572A>T (p.Ser524=)
n.3938A>T
c.-670A>T (n.-670A>T)
c.453A>T (p.Ser151=)
c.1279A>T
c.1140A>T (p.Ser380=)
c.1605A>T (p.Ser535=)
13g.23355031T>CCA483164075SACSc.1581A>G (p.Ser527=)
n.1719A>G
c.1572A>G (p.Ser524=)
n.3938A>G
c.-670A>G (n.-670A>G)
c.453A>G (p.Ser151=)
c.1279A>G
c.1140A>G (p.Ser380=)
c.1605A>G (p.Ser535=)
 ClinVar dbSNP
13g.23355031T>GCA483164076SACSc.1581A>C (p.Ser527=)
n.1719A>C
c.1572A>C (p.Ser524=)
n.3938A>C
c.-670A>C (n.-670A>C)
c.453A>C (p.Ser151=)
c.1279A>C
c.1140A>C (p.Ser380=)
c.1605A>C (p.Ser535=)
13g.23355031T=CA2078658144SACSc.1581A= (p.Ser527=)
n.1719A=
c.1572A= (p.Ser524=)
n.3938A=
c.-670A= (n.-670A=)
c.453A= (p.Ser151=)
c.1279A=
c.1140A= (p.Ser380=)
c.1605A= (p.Ser535=)
13g.23355032G>ACA387547725SACSc.1580C>T (p.Ser527Leu)
n.1718C>T
c.1571C>T (p.Ser524Leu)
n.3937C>T
c.-671C>T (n.-671C>T)
c.452C>T (p.Ser151Leu)
c.1278C>T
c.1139C>T (p.Ser380Leu)
c.1604C>T (p.Ser535Leu)
13g.23355032G>CCA387547727SACSc.1580C>G (p.Ser527Ter)
n.1718C>G
c.1571C>G (p.Ser524Ter)
n.3937C>G
c.-671C>G (n.-671C>G)
c.452C>G (p.Ser151Ter)
c.1278C>G
c.1139C>G (p.Ser380Ter)
c.1604C>G (p.Ser535Ter)
13g.23355032G>TCA387547723SACSc.1580C>A (p.Ser527Ter)
n.1718C>A
c.1571C>A (p.Ser524Ter)
n.3937C>A
c.-671C>A (n.-671C>A)
c.452C>A (p.Ser151Ter)
c.1278C>A
c.1139C>A (p.Ser380Ter)
c.1604C>A (p.Ser535Ter)

Number of alleles fetched