Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.75764591G>ACA2625765496TTLL5c.1551-24G>A (n.1551-24G>A)
c.78-24G>A (n.78-24G>A)
n.857-24G>A
c.204-24G>A (n.204-24G>A)
n.285-24G>A
c.1593-24G>A (n.1593-24G>A)
 gnomAD v4
14g.75764591G>CCA7279458TTLL5c.1551-24G>C (n.1551-24G>C)
c.78-24G>C (n.78-24G>C)
n.857-24G>C
c.204-24G>C (n.204-24G>C)
n.285-24G>C
c.1593-24G>C (n.1593-24G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75764591G=CA2147633227TTLL5c.1551-24G= (n.1551-24G=)
c.78-24G= (n.78-24G=)
n.857-24G=
c.204-24G= (n.204-24G=)
n.285-24G=
c.1593-24G= (n.1593-24G=)
14g.75764592C>GCA2625765498TTLL5c.1551-23C>G (n.1551-23C>G)
c.78-23C>G (n.78-23C>G)
n.857-23C>G
c.204-23C>G (n.204-23C>G)
n.285-23C>G
c.1593-23C>G (n.1593-23C>G)
 gnomAD v4
14g.75764593T>CCA7279459TTLL5c.1551-22T>C (n.1551-22T>C)
c.78-22T>C (n.78-22T>C)
n.857-22T>C
c.204-22T>C (n.204-22T>C)
n.285-22T>C
c.1593-22T>C (n.1593-22T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.75764593T=CA2147633228TTLL5c.1551-22T= (n.1551-22T=)
c.78-22T= (n.78-22T=)
n.857-22T=
c.204-22T= (n.204-22T=)
n.285-22T=
c.1593-22T= (n.1593-22T=)
14g.75764596C>TCA2575600560TTLL5c.1551-19C>T (n.1551-19C>T)
c.78-19C>T (n.78-19C>T)
n.857-19C>T
c.204-19C>T (n.204-19C>T)
n.285-19C>T
c.1593-19C>T (n.1593-19C>T)
 gnomAD v4
14g.75764597A=CA2147633229TTLL5c.1551-18A= (n.1551-18A=)
c.78-18A= (n.78-18A=)
n.857-18A=
c.204-18A= (n.204-18A=)
n.285-18A=
c.1593-18A= (n.1593-18A=)
14g.75764597A>GCA7279460TTLL5c.1551-18A>G (n.1551-18A>G)
c.78-18A>G (n.78-18A>G)
n.857-18A>G
c.204-18A>G (n.204-18A>G)
n.285-18A>G
c.1593-18A>G (n.1593-18A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75764597A>TCA2625765503TTLL5c.1551-18A>T (n.1551-18A>T)
c.78-18A>T (n.78-18A>T)
n.857-18A>T
c.204-18A>T (n.204-18A>T)
n.285-18A>T
c.1593-18A>T (n.1593-18A>T)
 gnomAD v4
14g.75764598T>CCA7279461TTLL5c.1551-17T>C (n.1551-17T>C)
c.78-17T>C (n.78-17T>C)
n.857-17T>C
c.204-17T>C (n.204-17T>C)
n.285-17T>C
c.1593-17T>C (n.1593-17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.75764598T=CA2147633230TTLL5c.1551-17T= (n.1551-17T=)
c.78-17T= (n.78-17T=)
n.857-17T=
c.204-17T= (n.204-17T=)
n.285-17T=
c.1593-17T= (n.1593-17T=)
14g.75764599G>ACA263693916TTLL5c.1551-16G>A (n.1551-16G>A)
c.78-16G>A (n.78-16G>A)
n.857-16G>A
c.204-16G>A (n.204-16G>A)
n.285-16G>A
c.1593-16G>A (n.1593-16G>A)
 dbSNP
14g.75764599G=CA2147633231TTLL5c.1551-16G= (n.1551-16G=)
c.78-16G= (n.78-16G=)
n.857-16G=
c.204-16G= (n.204-16G=)
n.285-16G=
c.1593-16G= (n.1593-16G=)
14g.75764600T>ACA2147633233TTLL5c.1551-15T>A (n.1551-15T>A)
c.78-15T>A (n.78-15T>A)
n.857-15T>A
c.204-15T>A (n.204-15T>A)
n.285-15T>A
c.1593-15T>A (n.1593-15T>A)
 dbSNP
14g.75764600T=CA2147633232TTLL5c.1551-15T= (n.1551-15T=)
c.78-15T= (n.78-15T=)
n.857-15T=
c.204-15T= (n.204-15T=)
n.285-15T=
c.1593-15T= (n.1593-15T=)
14g.75764607delCA2625765508TTLL5c.1551-8del (n.1551-8del)
c.78-8del (n.78-8del)
n.857-8del
c.204-8del (n.204-8del)
n.285-8del
c.1593-8del (n.1593-8del)
 gnomAD v4
14g.75764605T>CCA2625765509TTLL5c.1551-10T>C (n.1551-10T>C)
c.78-10T>C (n.78-10T>C)
n.857-10T>C
c.204-10T>C (n.204-10T>C)
n.285-10T>C
c.1593-10T>C (n.1593-10T>C)
 gnomAD v4
14g.75764607T>CCA2531182325TTLL5c.1551-8T>C (n.1551-8T>C)
c.78-8T>C (n.78-8T>C)
n.857-8T>C
c.204-8T>C (n.204-8T>C)
n.285-8T>C
c.1593-8T>C (n.1593-8T>C)
14g.75764609C>ACA2625765510TTLL5c.1551-6C>A (n.1551-6C>A)
c.78-6C>A (n.78-6C>A)
n.857-6C>A
c.204-6C>A (n.204-6C>A)
n.285-6C>A
c.1593-6C>A (n.1593-6C>A)
 gnomAD v4
14g.75764610C=CA2147633234TTLL5c.1551-5C= (n.1551-5C=)
c.78-5C= (n.78-5C=)
n.857-5C=
c.204-5C= (n.204-5C=)
n.285-5C=
c.1593-5C= (n.1593-5C=)
14g.75764610C>TCA7279462TTLL5c.1551-5C>T (n.1551-5C>T)
c.78-5C>T (n.78-5C>T)
n.857-5C>T
c.204-5C>T (n.204-5C>T)
n.285-5C>T
c.1593-5C>T (n.1593-5C>T)
 dbSNP ExAC gnomAD v4
14g.75764611C=CA2147633235TTLL5c.1551-4C= (n.1551-4C=)
c.78-4C= (n.78-4C=)
n.857-4C=
c.204-4C= (n.204-4C=)
n.285-4C=
c.1593-4C= (n.1593-4C=)
14g.75764611C>TCA615194439TTLL5c.1551-4C>T (n.1551-4C>T)
c.78-4C>T (n.78-4C>T)
n.857-4C>T
c.204-4C>T (n.204-4C>T)
n.285-4C>T
c.1593-4C>T (n.1593-4C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.75764612T>CCA7279463TTLL5c.1551-3T>C (n.1551-3T>C)
c.78-3T>C (n.78-3T>C)
n.857-3T>C
c.204-3T>C (n.204-3T>C)
n.285-3T>C
c.1593-3T>C (n.1593-3T>C)
 ClinVar dbSNP ExAC gnomAD v2
14g.75764612T=CA2147633236TTLL5c.1551-3T= (n.1551-3T=)
c.78-3T= (n.78-3T=)
n.857-3T=
c.204-3T= (n.204-3T=)
n.285-3T=
c.1593-3T= (n.1593-3T=)
14g.75764613A=CA2147633237TTLL5c.1551-2A= (n.1551-2A=)
c.78-2A= (n.78-2A=)
n.857-2A=
c.204-2A= (n.204-2A=)
n.285-2A=
c.1593-2A= (n.1593-2A=)
14g.75764613A>CCA390466211TTLL5c.1551-2A>C (n.1551-2A>C)
c.78-2A>C (n.78-2A>C)
n.857-2A>C
c.204-2A>C (n.204-2A>C)
n.285-2A>C
c.1593-2A>C (n.1593-2A>C)
14g.75764613A>GCA390466212TTLL5c.1551-2A>G (n.1551-2A>G)
c.78-2A>G (n.78-2A>G)
n.857-2A>G
c.204-2A>G (n.204-2A>G)
n.285-2A>G
c.1593-2A>G (n.1593-2A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.75764613A>TCA390466213TTLL5c.1551-2A>T (n.1551-2A>T)
c.78-2A>T (n.78-2A>T)
n.857-2A>T
c.204-2A>T (n.204-2A>T)
n.285-2A>T
c.1593-2A>T (n.1593-2A>T)
14g.75764614G>ACA390466214TTLL5c.1551-1G>A (n.1551-1G>A)
c.78-1G>A (n.78-1G>A)
n.857-1G>A
c.204-1G>A (n.204-1G>A)
n.285-1G>A
c.1593-1G>A (n.1593-1G>A)
14g.75764614G>CCA390466215TTLL5c.1551-1G>C (n.1551-1G>C)
c.78-1G>C (n.78-1G>C)
n.857-1G>C
c.204-1G>C (n.204-1G>C)
n.285-1G>C
c.1593-1G>C (n.1593-1G>C)
14g.75764614G>TCA390466216TTLL5c.1551-1G>T (n.1551-1G>T)
c.78-1G>T (n.78-1G>T)
n.857-1G>T
c.204-1G>T (n.204-1G>T)
n.285-1G>T
c.1593-1G>T (n.1593-1G>T)
14g.75764615A>CCA390466217TTLL5c.1551A>C (p.Arg517Ser)
c.78A>C (p.Arg26=)
n.857A>C
c.204A>C (p.Arg68=)
n.285A>C
c.1593A>C (p.Arg531Ser)
14g.75764615A>GCA487189031TTLL5c.1551A>G (p.Arg517=)
c.78A>G (p.Arg26=)
n.857A>G
c.204A>G (p.Arg68=)
n.285A>G
c.1593A>G (p.Arg531=)
14g.75764615A>TCA390466218TTLL5c.1551A>T (p.Arg517Ser)
c.78A>T (p.Arg26=)
n.857A>T
c.204A>T (p.Arg68=)
n.285A>T
c.1593A>T (p.Arg531Ser)
14g.75764616A=CA2147633238TTLL5c.1552A= (p.Met518=)
c.79A= (p.Met27=)
n.858A=
c.205A= (p.Met69=)
n.286A=
c.1594A= (p.Met532=)
14g.75764616A>CCA390466219TTLL5c.1552A>C (p.Met518Leu)
c.79A>C (p.Met27Leu)
n.858A>C
c.205A>C (p.Met69Leu)
n.286A>C
c.1594A>C (p.Met532Leu)
14g.75764616A>GCA7279464TTLL5c.1552A>G (p.Met518Val)
c.79A>G (p.Met27Val)
n.858A>G
c.205A>G (p.Met69Val)
n.286A>G
c.1594A>G (p.Met532Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.75764616A>TCA390466220TTLL5c.1552A>T (p.Met518Leu)
c.79A>T (p.Met27Leu)
n.858A>T
c.205A>T (p.Met69Leu)
n.286A>T
c.1594A>T (p.Met532Leu)
14g.75764617T>ACA390466221TTLL5c.1553T>A (p.Met518Lys)
c.80T>A (p.Met27Lys)
n.859T>A
c.206T>A (p.Met69Lys)
n.287T>A
c.1595T>A (p.Met532Lys)
14g.75764617T>CCA390466222TTLL5c.1553T>C (p.Met518Thr)
c.80T>C (p.Met27Thr)
n.859T>C
c.206T>C (p.Met69Thr)
n.287T>C
c.1595T>C (p.Met532Thr)
 dbSNP
14g.75764617T>GCA390466223TTLL5c.1553T>G (p.Met518Arg)
c.80T>G (p.Met27Arg)
n.859T>G
c.206T>G (p.Met69Arg)
n.287T>G
c.1595T>G (p.Met532Arg)
14g.75764617T=CA2147633239TTLL5c.1553T= (p.Met518=)
c.80T= (p.Met27=)
n.859T=
c.206T= (p.Met69=)
n.287T=
c.1595T= (p.Met532=)
14g.75764618G>ACA390466224TTLL5c.1554G>A (p.Met518Ile)
c.81G>A (p.Met27Ile)
n.860G>A
c.207G>A (p.Met69Ile)
n.288G>A
c.1596G>A (p.Met532Ile)
 gnomAD v4
14g.75764618G>CCA390466225TTLL5c.1554G>C (p.Met518Ile)
c.81G>C (p.Met27Ile)
n.860G>C
c.207G>C (p.Met69Ile)
n.288G>C
c.1596G>C (p.Met532Ile)
14g.75764618G>TCA390466226TTLL5c.1554G>T (p.Met518Ile)
c.81G>T (p.Met27Ile)
n.860G>T
c.207G>T (p.Met69Ile)
n.288G>T
c.1596G>T (p.Met532Ile)
14g.75764619A>CCA390466229TTLL5c.1555A>C (p.Thr519Pro)
c.82A>C (p.Thr28Pro)
n.861A>C
c.208A>C (p.Thr70Pro)
n.289A>C
c.1597A>C (p.Thr533Pro)
14g.75764619A>GCA390466228TTLL5c.1555A>G (p.Thr519Ala)
c.82A>G (p.Thr28Ala)
n.861A>G
c.208A>G (p.Thr70Ala)
n.289A>G
c.1597A>G (p.Thr533Ala)
14g.75764619A>TCA390466227TTLL5c.1555A>T (p.Thr519Ser)
c.82A>T (p.Thr28Ser)
n.861A>T
c.208A>T (p.Thr70Ser)
n.289A>T
c.1597A>T (p.Thr533Ser)
14g.75764620C>ACA390466230TTLL5c.1556C>A (p.Thr519Asn)
c.83C>A (p.Thr28Asn)
n.862C>A
c.209C>A (p.Thr70Asn)
n.290C>A
c.1598C>A (p.Thr533Asn)
14g.75764620C>GCA390466231TTLL5c.1556C>G (p.Thr519Ser)
c.83C>G (p.Thr28Ser)
n.862C>G
c.209C>G (p.Thr70Ser)
n.290C>G
c.1598C>G (p.Thr533Ser)
14g.75764620C>TCA390466232TTLL5c.1556C>T (p.Thr519Ile)
c.83C>T (p.Thr28Ile)
n.862C>T
c.209C>T (p.Thr70Ile)
n.290C>T
c.1598C>T (p.Thr533Ile)
14g.75764621T>ACA487189039TTLL5c.1557T>A (p.Thr519=)
c.84T>A (p.Thr28=)
n.863T>A
c.210T>A (p.Thr70=)
n.291T>A
c.1599T>A (p.Thr533=)
14g.75764621T>CCA487189040TTLL5c.1557T>C (p.Thr519=)
c.84T>C (p.Thr28=)
n.863T>C
c.210T>C (p.Thr70=)
n.291T>C
c.1599T>C (p.Thr533=)
14g.75764621T>GCA487189041TTLL5c.1557T>G (p.Thr519=)
c.84T>G (p.Thr28=)
n.863T>G
c.210T>G (p.Thr70=)
n.291T>G
c.1599T>G (p.Thr533=)
14g.75764622G>ACA7279465TTLL5c.1558G>A (p.Ala520Thr)
c.85G>A (p.Ala29Thr)
n.864G>A
c.211G>A (p.Ala71Thr)
n.292G>A
c.1600G>A (p.Ala534Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.75764622G>CCA390466233TTLL5c.1558G>C (p.Ala520Pro)
c.85G>C (p.Ala29Pro)
n.864G>C
c.211G>C (p.Ala71Pro)
n.292G>C
c.1600G>C (p.Ala534Pro)
14g.75764622G=CA2147633240TTLL5c.1558G= (p.Ala520=)
c.85G= (p.Ala29=)
n.864G=
c.211G= (p.Ala71=)
n.292G=
c.1600G= (p.Ala534=)
14g.75764622G>TCA390466234TTLL5c.1558G>T (p.Ala520Ser)
c.85G>T (p.Ala29Ser)
n.864G>T
c.211G>T (p.Ala71Ser)
n.292G>T
c.1600G>T (p.Ala534Ser)
14g.75764623C>ACA390466235TTLL5c.1559C>A (p.Ala520Asp)
c.86C>A (p.Ala29Asp)
n.865C>A
c.212C>A (p.Ala71Asp)
n.293C>A
c.1601C>A (p.Ala534Asp)
14g.75764623C=CA2147633241TTLL5c.1559C= (p.Ala520=)
c.86C= (p.Ala29=)
n.865C=
c.212C= (p.Ala71=)
n.293C=
c.1601C= (p.Ala534=)
14g.75764623C>GCA390466237TTLL5c.1559C>G (p.Ala520Gly)
c.86C>G (p.Ala29Gly)
n.865C>G
c.212C>G (p.Ala71Gly)
n.293C>G
c.1601C>G (p.Ala534Gly)
14g.75764623C>TCA390466236TTLL5c.1559C>T (p.Ala520Val)
c.86C>T (p.Ala29Val)
n.865C>T
c.212C>T (p.Ala71Val)
n.293C>T
c.1601C>T (p.Ala534Val)
 gnomAD v4
14g.75764624T>ACA487189046TTLL5c.1560T>A (p.Ala520=)
c.87T>A (p.Ala29=)
n.866T>A
c.213T>A (p.Ala71=)
n.294T>A
c.1602T>A (p.Ala534=)
14g.75764624T>CCA487189047TTLL5c.1560T>C (p.Ala520=)
c.87T>C (p.Ala29=)
n.866T>C
c.213T>C (p.Ala71=)
n.294T>C
c.1602T>C (p.Ala534=)
14g.75764624T>GCA487189048TTLL5c.1560T>G (p.Ala520=)
c.87T>G (p.Ala29=)
n.866T>G
c.213T>G (p.Ala71=)
n.294T>G
c.1602T>G (p.Ala534=)
14g.75764624dupCA615194440TTLL5c.1560dup (p.Asp521Ter)
c.87dup (p.Asp30Ter)
n.866dup
c.213dup (p.Asp72Ter)
n.294dup
c.1602dup (p.Asp535Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.75764625G>ACA390466238TTLL5c.1561G>A (p.Asp521Asn)
c.88G>A (p.Asp30Asn)
n.867G>A
c.214G>A (p.Asp72Asn)
n.295G>A
c.1603G>A (p.Asp535Asn)
 gnomAD v4 COSMIC
14g.75764625G>CCA390466239TTLL5c.1561G>C (p.Asp521His)
c.88G>C (p.Asp30His)
n.867G>C
c.214G>C (p.Asp72His)
n.295G>C
c.1603G>C (p.Asp535His)
14g.75764625G>TCA390466240TTLL5c.1561G>T (p.Asp521Tyr)
c.88G>T (p.Asp30Tyr)
n.867G>T
c.214G>T (p.Asp72Tyr)
n.295G>T
c.1603G>T (p.Asp535Tyr)
14g.75764626A>CCA390466241TTLL5c.1562A>C (p.Asp521Ala)
c.89A>C (p.Asp30Ala)
n.868A>C
c.215A>C (p.Asp72Ala)
n.296A>C
c.1604A>C (p.Asp535Ala)
14g.75764626A>GCA390466242TTLL5c.1562A>G (p.Asp521Gly)
c.89A>G (p.Asp30Gly)
n.868A>G
c.215A>G (p.Asp72Gly)
n.296A>G
c.1604A>G (p.Asp535Gly)
14g.75764626A>TCA390466243TTLL5c.1562A>T (p.Asp521Val)
c.89A>T (p.Asp30Val)
n.868A>T
c.215A>T (p.Asp72Val)
n.296A>T
c.1604A>T (p.Asp535Val)
 gnomAD v4
14g.75764627T>ACA390466244TTLL5c.1563T>A (p.Asp521Glu)
c.90T>A (p.Asp30Glu)
n.869T>A
c.216T>A (p.Asp72Glu)
n.297T>A
c.1605T>A (p.Asp535Glu)
14g.75764627T>CCA487189051TTLL5c.1563T>C (p.Asp521=)
c.90T>C (p.Asp30=)
n.869T>C
c.216T>C (p.Asp72=)
n.297T>C
c.1605T>C (p.Asp535=)
14g.75764627T>GCA390466245TTLL5c.1563T>G (p.Asp521Glu)
c.90T>G (p.Asp30Glu)
n.869T>G
c.216T>G (p.Asp72Glu)
n.297T>G
c.1605T>G (p.Asp535Glu)
14g.75764628G>ACA390466246TTLL5c.1564G>A (p.Gly522Arg)
c.91G>A (p.Gly31Arg)
n.870G>A
c.217G>A (p.Gly73Arg)
n.298G>A
c.1606G>A (p.Gly536Arg)
14g.75764628G>CCA390466247TTLL5c.1564G>C (p.Gly522Arg)
c.91G>C (p.Gly31Arg)
n.870G>C
c.217G>C (p.Gly73Arg)
n.298G>C
c.1606G>C (p.Gly536Arg)
14g.75764628G>TCA390466248TTLL5c.1564G>T (p.Gly522Ter)
c.91G>T (p.Gly31Ter)
n.870G>T
c.217G>T (p.Gly73Ter)
n.298G>T
c.1606G>T (p.Gly536Ter)
14g.75764629G>ACA390466249TTLL5c.1565G>A (p.Gly522Glu)
c.92G>A (p.Gly31Glu)
n.871G>A
c.218G>A (p.Gly73Glu)
n.299G>A
c.1607G>A (p.Gly536Glu)
14g.75764629G>CCA390466251TTLL5c.1565G>C (p.Gly522Ala)
c.92G>C (p.Gly31Ala)
n.871G>C
c.218G>C (p.Gly73Ala)
n.299G>C
c.1607G>C (p.Gly536Ala)
14g.75764629G>TCA390466250TTLL5c.1565G>T (p.Gly522Val)
c.92G>T (p.Gly31Val)
n.871G>T
c.218G>T (p.Gly73Val)
n.299G>T
c.1607G>T (p.Gly536Val)
 gnomAD v4
14g.75764630A>CCA487189059TTLL5c.1566A>C (p.Gly522=)
c.93A>C (p.Gly31=)
n.872A>C
c.219A>C (p.Gly73=)
n.300A>C
c.1608A>C (p.Gly536=)
14g.75764630A>GCA487189060TTLL5c.1566A>G (p.Gly522=)
c.93A>G (p.Gly31=)
n.872A>G
c.219A>G (p.Gly73=)
n.300A>G
c.1608A>G (p.Gly536=)
14g.75764630A>TCA487189061TTLL5c.1566A>T (p.Gly522=)
c.93A>T (p.Gly31=)
n.872A>T
c.219A>T (p.Gly73=)
n.300A>T
c.1608A>T (p.Gly536=)
14g.75764631G>ACA390466252TTLL5c.1567G>A (p.Ala523Thr)
c.94G>A (p.Ala32Thr)
n.873G>A
c.220G>A (p.Ala74Thr)
n.301G>A
c.1609G>A (p.Ala537Thr)
14g.75764631G>CCA390466253TTLL5c.1567G>C (p.Ala523Pro)
c.94G>C (p.Ala32Pro)
n.873G>C
c.220G>C (p.Ala74Pro)
n.301G>C
c.1609G>C (p.Ala537Pro)
14g.75764631G>TCA390466254TTLL5c.1567G>T (p.Ala523Ser)
c.94G>T (p.Ala32Ser)
n.873G>T
c.220G>T (p.Ala74Ser)
n.301G>T
c.1609G>T (p.Ala537Ser)
14g.75764632C>ACA390466255TTLL5c.1568C>A (p.Ala523Glu)
c.95C>A (p.Ala32Glu)
n.874C>A
c.221C>A (p.Ala74Glu)
n.302C>A
c.1610C>A (p.Ala537Glu)
 dbSNP gnomAD v3 gnomAD v4
14g.75764632C=CA2147633242TTLL5c.1568C= (p.Ala523=)
c.95C= (p.Ala32=)
n.874C=
c.221C= (p.Ala74=)
n.302C=
c.1610C= (p.Ala537=)
14g.75764632C>GCA390466256TTLL5c.1568C>G (p.Ala523Gly)
c.95C>G (p.Ala32Gly)
n.874C>G
c.221C>G (p.Ala74Gly)
n.302C>G
c.1610C>G (p.Ala537Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.75764632C>TCA390466257TTLL5c.1568C>T (p.Ala523Val)
c.95C>T (p.Ala32Val)
n.874C>T
c.221C>T (p.Ala74Val)
n.302C>T
c.1610C>T (p.Ala537Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.75764633G>ACA7279466TTLL5c.1569G>A (p.Ala523=)
c.96G>A (p.Ala32=)
n.875G>A
c.222G>A (p.Ala74=)
n.303G>A
c.1611G>A (p.Ala537=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75764633G>CCA487189066TTLL5c.1569G>C (p.Ala523=)
c.96G>C (p.Ala32=)
n.875G>C
c.222G>C (p.Ala74=)
n.303G>C
c.1611G>C (p.Ala537=)
14g.75764633G=CA2147633243TTLL5c.1569G= (p.Ala523=)
c.96G= (p.Ala32=)
n.875G=
c.222G= (p.Ala74=)
n.303G=
c.1611G= (p.Ala537=)
14g.75764633G>TCA487189068TTLL5c.1569G>T (p.Ala523=)
c.96G>T (p.Ala32=)
n.875G>T
c.222G>T (p.Ala74=)
n.303G>T
c.1611G>T (p.Ala537=)
14g.75764634C>ACA390466258TTLL5c.1570C>A (p.Pro524Thr)
c.97C>A (p.Pro33Thr)
n.876C>A
c.223C>A (p.Pro75Thr)
n.304C>A
c.1612C>A (p.Pro538Thr)
14g.75764634C>GCA390466259TTLL5c.1570C>G (p.Pro524Ala)
c.97C>G (p.Pro33Ala)
n.876C>G
c.223C>G (p.Pro75Ala)
n.304C>G
c.1612C>G (p.Pro538Ala)
14g.75764634C>TCA390466260TTLL5c.1570C>T (p.Pro524Ser)
c.97C>T (p.Pro33Ser)
n.876C>T
c.223C>T (p.Pro75Ser)
n.304C>T
c.1612C>T (p.Pro538Ser)
14g.75764635C>ACA390466261TTLL5c.1571C>A (p.Pro524Gln)
c.98C>A (p.Pro33Gln)
n.877C>A
c.224C>A (p.Pro75Gln)
n.305C>A
c.1613C>A (p.Pro538Gln)
14g.75764635C>GCA390466262TTLL5c.1571C>G (p.Pro524Arg)
c.98C>G (p.Pro33Arg)
n.877C>G
c.224C>G (p.Pro75Arg)
n.305C>G
c.1613C>G (p.Pro538Arg)
14g.75764635C>TCA390466263TTLL5c.1571C>T (p.Pro524Leu)
c.98C>T (p.Pro33Leu)
n.877C>T
c.224C>T (p.Pro75Leu)
n.305C>T
c.1613C>T (p.Pro538Leu)
 gnomAD v4
14g.75764636A=CA2147633244TTLL5c.1572A= (p.Pro524=)
c.99A= (p.Pro33=)
n.878A=
c.225A= (p.Pro75=)
n.306A=
c.1614A= (p.Pro538=)
14g.75764636A>CCA487189072TTLL5c.1572A>C (p.Pro524=)
c.99A>C (p.Pro33=)
n.878A>C
c.225A>C (p.Pro75=)
n.306A>C
c.1614A>C (p.Pro538=)
14g.75764636A>GCA487189074TTLL5c.1572A>G (p.Pro524=)
c.99A>G (p.Pro33=)
n.878A>G
c.225A>G (p.Pro75=)
n.306A>G
c.1614A>G (p.Pro538=)
 dbSNP gnomAD v4
14g.75764636A>TCA487189073TTLL5c.1572A>T (p.Pro524=)
c.99A>T (p.Pro33=)
n.878A>T
c.225A>T (p.Pro75=)
n.306A>T
c.1614A>T (p.Pro538=)
14g.75764637G>ACA390466264TTLL5c.1573G>A (p.Glu525Lys)
c.100G>A (p.Glu34Lys)
n.879G>A
c.226G>A (p.Glu76Lys)
n.307G>A
c.1615G>A (p.Glu539Lys)
 dbSNP gnomAD v2 gnomAD v4
14g.75764637G>CCA390466266TTLL5c.1573G>C (p.Glu525Gln)
c.100G>C (p.Glu34Gln)
n.879G>C
c.226G>C (p.Glu76Gln)
n.307G>C
c.1615G>C (p.Glu539Gln)
14g.75764637G=CA2147633245TTLL5c.1573G= (p.Glu525=)
c.100G= (p.Glu34=)
n.879G=
c.226G= (p.Glu76=)
n.307G=
c.1615G= (p.Glu539=)
14g.75764637G>TCA390466265TTLL5c.1573G>T (p.Glu525Ter)
c.100G>T (p.Glu34Ter)
n.879G>T
c.226G>T (p.Glu76Ter)
n.307G>T
c.1615G>T (p.Glu539Ter)
14g.75764638A>CCA390466267TTLL5c.1574A>C (p.Glu525Ala)
c.101A>C (p.Glu34Ala)
n.880A>C
c.227A>C (p.Glu76Ala)
n.308A>C
c.1616A>C (p.Glu539Ala)
14g.75764638A>GCA390466268TTLL5c.1574A>G (p.Glu525Gly)
c.101A>G (p.Glu34Gly)
n.880A>G
c.227A>G (p.Glu76Gly)
n.308A>G
c.1616A>G (p.Glu539Gly)
14g.75764638A>TCA390466269TTLL5c.1574A>T (p.Glu525Val)
c.101A>T (p.Glu34Val)
n.880A>T
c.227A>T (p.Glu76Val)
n.308A>T
c.1616A>T (p.Glu539Val)
14g.75764639A>CCA390466270TTLL5c.1575A>C (p.Glu525Asp)
c.102A>C (p.Glu34Asp)
n.881A>C
c.228A>C (p.Glu76Asp)
n.309A>C
c.1617A>C (p.Glu539Asp)
14g.75764639A>GCA487189078TTLL5c.1575A>G (p.Glu525=)
c.102A>G (p.Glu34=)
n.881A>G
c.228A>G (p.Glu76=)
n.309A>G
c.1617A>G (p.Glu539=)
14g.75764639A>TCA390466271TTLL5c.1575A>T (p.Glu525Asp)
c.102A>T (p.Glu34Asp)
n.881A>T
c.228A>T (p.Glu76Asp)
n.309A>T
c.1617A>T (p.Glu539Asp)
14g.75764640T>ACA390466272TTLL5c.1576T>A (p.Leu526Met)
c.103T>A (p.Leu35Met)
n.882T>A
c.229T>A (p.Leu77Met)
n.310T>A
c.1618T>A (p.Leu540Met)
14g.75764640T>CCA7279467TTLL5c.1576T>C (p.Leu526=)
c.103T>C (p.Leu35=)
n.882T>C
c.229T>C (p.Leu77=)
n.310T>C
c.1618T>C (p.Leu540=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75764640T>GCA390466273TTLL5c.1576T>G (p.Leu526Val)
c.103T>G (p.Leu35Val)
n.882T>G
c.229T>G (p.Leu77Val)
n.310T>G
c.1618T>G (p.Leu540Val)
14g.75764640T=CA2147633246TTLL5c.1576T= (p.Leu526=)
c.103T= (p.Leu35=)
n.882T=
c.229T= (p.Leu77=)
n.310T=
c.1618T= (p.Leu540=)
14g.75764641T>ACA390466274TTLL5c.1577T>A (p.Leu526Ter)
c.104T>A (p.Leu35Ter)
n.883T>A
c.230T>A (p.Leu77Ter)
n.311T>A
c.1619T>A (p.Leu540Ter)
14g.75764641T>CCA390466275TTLL5c.1577T>C (p.Leu526Ser)
c.104T>C (p.Leu35Ser)
n.883T>C
c.230T>C (p.Leu77Ser)
n.311T>C
c.1619T>C (p.Leu540Ser)
14g.75764641T>GCA390466276TTLL5c.1577T>G (p.Leu526Trp)
c.104T>G (p.Leu35Trp)
n.883T>G
c.230T>G (p.Leu77Trp)
n.311T>G
c.1619T>G (p.Leu540Trp)
14g.75764642G>ACA487189083TTLL5c.1578G>A (p.Leu526=)
c.105G>A (p.Leu35=)
n.884G>A
c.231G>A (p.Leu77=)
n.312G>A
c.1620G>A (p.Leu540=)
14g.75764642G>CCA390466277TTLL5c.1578G>C (p.Leu526Phe)
c.105G>C (p.Leu35Phe)
n.884G>C
c.231G>C (p.Leu77Phe)
n.312G>C
c.1620G>C (p.Leu540Phe)
14g.75764642G>TCA390466278TTLL5c.1578G>T (p.Leu526Phe)
c.105G>T (p.Leu35Phe)
n.884G>T
c.231G>T (p.Leu77Phe)
n.312G>T
c.1620G>T (p.Leu540Phe)
14g.75764643A>CCA390466279TTLL5c.1579A>C (p.Lys527Gln)
c.106A>C (p.Lys36Gln)
n.885A>C
c.232A>C (p.Lys78Gln)
n.313A>C
c.1621A>C (p.Lys541Gln)
14g.75764643A>GCA390466281TTLL5c.1579A>G (p.Lys527Glu)
c.106A>G (p.Lys36Glu)
n.885A>G
c.232A>G (p.Lys78Glu)
n.313A>G
c.1621A>G (p.Lys541Glu)
14g.75764643A>TCA390466280TTLL5c.1579A>T (p.Lys527Ter)
c.106A>T (p.Lys36Ter)
n.885A>T
c.232A>T (p.Lys78Ter)
n.313A>T
c.1621A>T (p.Lys541Ter)
14g.75764644A>CCA390466282TTLL5c.1580A>C (p.Lys527Thr)
c.107A>C (p.Lys36Thr)
n.886A>C
c.233A>C (p.Lys78Thr)
n.314A>C
c.1622A>C (p.Lys541Thr)
14g.75764644A>GCA390466283TTLL5c.1580A>G (p.Lys527Arg)
c.107A>G (p.Lys36Arg)
n.886A>G
c.233A>G (p.Lys78Arg)
n.314A>G
c.1622A>G (p.Lys541Arg)
 COSMIC
14g.75764644A>TCA390466284TTLL5c.1580A>T (p.Lys527Met)
c.107A>T (p.Lys36Met)
n.886A>T
c.233A>T (p.Lys78Met)
n.314A>T
c.1622A>T (p.Lys541Met)
14g.75764645G>ACA263693973TTLL5c.1581G>A (p.Lys527=)
c.108G>A (p.Lys36=)
n.887G>A
c.234G>A (p.Lys78=)
n.315G>A
c.1623G>A (p.Lys541=)
 dbSNP
14g.75764645G>CCA390466285TTLL5c.1581G>C (p.Lys527Asn)
c.108G>C (p.Lys36Asn)
n.887G>C
c.234G>C (p.Lys78Asn)
n.315G>C
c.1623G>C (p.Lys541Asn)
14g.75764645G=CA2147633247TTLL5c.1581G= (p.Lys527=)
c.108G= (p.Lys36=)
n.887G=
c.234G= (p.Lys78=)
n.315G=
c.1623G= (p.Lys541=)
14g.75764645G>TCA390466286TTLL5c.1581G>T (p.Lys527Asn)
c.108G>T (p.Lys36Asn)
n.887G>T
c.234G>T (p.Lys78Asn)
n.315G>T
c.1623G>T (p.Lys541Asn)
 COSMIC
14g.75764646A=CA2147633248TTLL5c.1582A= (p.Ile528=)
c.109A= (p.Ile37=)
n.888A=
c.235A= (p.Ile79=)
n.316A=
c.1624A= (p.Ile542=)
14g.75764646A>CCA390466287TTLL5c.1582A>C (p.Ile528Leu)
c.109A>C (p.Ile37Leu)
n.888A>C
c.235A>C (p.Ile79Leu)
n.316A>C
c.1624A>C (p.Ile542Leu)
14g.75764646A>GCA390466288TTLL5c.1582A>G (p.Ile528Val)
c.109A>G (p.Ile37Val)
n.888A>G
c.235A>G (p.Ile79Val)
n.316A>G
c.1624A>G (p.Ile542Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.75764646A>TCA390466289TTLL5c.1582A>T (p.Ile528Leu)
c.109A>T (p.Ile37Leu)
n.888A>T
c.235A>T (p.Ile79Leu)
n.316A>T
c.1624A>T (p.Ile542Leu)
14g.75764647T>ACA390466290TTLL5c.1583T>A (p.Ile528Lys)
c.110T>A (p.Ile37Lys)
n.889T>A
c.236T>A (p.Ile79Lys)
n.317T>A
c.1625T>A (p.Ile542Lys)
14g.75764647T>CCA390466291TTLL5c.1583T>C (p.Ile528Thr)
c.110T>C (p.Ile37Thr)
n.889T>C
c.236T>C (p.Ile79Thr)
n.317T>C
c.1625T>C (p.Ile542Thr)
14g.75764647T>GCA390466292TTLL5c.1583T>G (p.Ile528Arg)
c.110T>G (p.Ile37Arg)
n.889T>G
c.236T>G (p.Ile79Arg)
n.317T>G
c.1625T>G (p.Ile542Arg)
14g.75764647_75764651delinsTAGAGCA2147633249TTLL5c.1583_1587delinsTAGAG (p.Ile528=)
c.110_114delinsTAGAG (p.Ile37=)
n.889_893delinsTAGAG
c.236_240delinsTAGAG (p.Ile79=)
n.317_321delinsTAGAG
c.1625_1629delinsTAGAG (p.Ile542=)
14g.75764648A=CA2147633250TTLL5c.1584A= (p.Ile528=)
c.111A= (p.Ile37=)
n.890A=
c.237A= (p.Ile79=)
n.318A=
c.1626A= (p.Ile542=)
14g.75764648A>CCA487189090TTLL5c.1584A>C (p.Ile528=)
c.111A>C (p.Ile37=)
n.890A>C
c.237A>C (p.Ile79=)
n.318A>C
c.1626A>C (p.Ile542=)
14g.75764648A>GCA390466293TTLL5c.1584A>G (p.Ile528Met)
c.111A>G (p.Ile37Met)
n.890A>G
c.237A>G (p.Ile79Met)
n.318A>G
c.1626A>G (p.Ile542Met)
 dbSNP gnomAD v2 gnomAD v4
14g.75764648A>TCA487189091TTLL5c.1584A>T (p.Ile528=)
c.111A>T (p.Ile37=)
n.890A>T
c.237A>T (p.Ile79=)
n.318A>T
c.1626A>T (p.Ile542=)
14g.75764648dupCA2575600561TTLL5c.1584dup (p.Glu529ArgfsTer27)
c.111dup (p.Glu38ArgfsTer27)
n.890dup
c.237dup (p.Glu80ArgfsTer27)
n.318dup
c.1626dup (p.Glu543ArgfsTer27)
14g.75764652_75764653delCA615194458TTLL5c.1588_1589del (p.Leu531GlufsTer24)
c.115_116del (p.Leu40GlufsTer24)
n.894_895del
c.241_242del (p.Leu82GlufsTer24)
n.322_323del
c.1630_1631del (p.Leu545GlufsTer24)
 dbSNP gnomAD v2 gnomAD v4
14g.75764650_75764653delCA210609TTLL5c.1586_1589del (p.Glu529ValfsTer2)
c.113_116del (p.Glu38ValfsTer2)
n.892_895del
c.239_242del (p.Glu80ValfsTer2)
n.320_323del
c.1628_1631del (p.Glu543ValfsTer2)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.75764649G>ACA390466294TTLL5c.1585G>A (p.Glu529Lys)
c.112G>A (p.Glu38Lys)
n.891G>A
c.238G>A (p.Glu80Lys)
n.319G>A
c.1627G>A (p.Glu543Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
14g.75764649G>CCA390466295TTLL5c.1585G>C (p.Glu529Gln)
c.112G>C (p.Glu38Gln)
n.891G>C
c.238G>C (p.Glu80Gln)
n.319G>C
c.1627G>C (p.Glu543Gln)
 dbSNP gnomAD v3 gnomAD v4
14g.75764649G=CA2147633251TTLL5c.1585G= (p.Glu529=)
c.112G= (p.Glu38=)
n.891G=
c.238G= (p.Glu80=)
n.319G=
c.1627G= (p.Glu543=)
14g.75764649G>TCA390466296TTLL5c.1585G>T (p.Glu529Ter)
c.112G>T (p.Glu38Ter)
n.891G>T
c.238G>T (p.Glu80Ter)
n.319G>T
c.1627G>T (p.Glu543Ter)
14g.75764650A>CCA390466297TTLL5c.1586A>C (p.Glu529Ala)
c.113A>C (p.Glu38Ala)
n.892A>C
c.239A>C (p.Glu80Ala)
n.320A>C
c.1628A>C (p.Glu543Ala)
14g.75764650A>GCA390466298TTLL5c.1586A>G (p.Glu529Gly)
c.113A>G (p.Glu38Gly)
n.892A>G
c.239A>G (p.Glu80Gly)
n.320A>G
c.1628A>G (p.Glu543Gly)
 gnomAD v4
14g.75764650A>TCA390466299TTLL5c.1586A>T (p.Glu529Val)
c.113A>T (p.Glu38Val)
n.892A>T
c.239A>T (p.Glu80Val)
n.320A>T
c.1628A>T (p.Glu543Val)
14g.75764651G>ACA487189092TTLL5c.1587G>A (p.Glu529=)
c.114G>A (p.Glu38=)
n.893G>A
c.240G>A (p.Glu80=)
n.321G>A
c.1629G>A (p.Glu543=)
 ClinVar
14g.75764651G>CCA390466300TTLL5c.1587G>C (p.Glu529Asp)
c.114G>C (p.Glu38Asp)
n.893G>C
c.240G>C (p.Glu80Asp)
n.321G>C
c.1629G>C (p.Glu543Asp)
14g.75764651G>TCA390466301TTLL5c.1587G>T (p.Glu529Asp)
c.114G>T (p.Glu38Asp)
n.893G>T
c.240G>T (p.Glu80Asp)
n.321G>T
c.1629G>T (p.Glu543Asp)
14g.75764652A=CA2147633252TTLL5c.1588A= (p.Ser530=)
c.115A= (p.Ser39=)
n.894A=
c.241A= (p.Ser81=)
n.322A=
c.1630A= (p.Ser544=)
14g.75764652A>CCA390466302TTLL5c.1588A>C (p.Ser530Arg)
c.115A>C (p.Ser39Arg)
n.894A>C
c.241A>C (p.Ser81Arg)
n.322A>C
c.1630A>C (p.Ser544Arg)
14g.75764652A>GCA390466303TTLL5c.1588A>G (p.Ser530Gly)
c.115A>G (p.Ser39Gly)
n.894A>G
c.241A>G (p.Ser81Gly)
n.322A>G
c.1630A>G (p.Ser544Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.75764652A>TCA390466304TTLL5c.1588A>T (p.Ser530Cys)
c.115A>T (p.Ser39Cys)
n.894A>T
c.241A>T (p.Ser81Cys)
n.322A>T
c.1630A>T (p.Ser544Cys)
14g.75764653G>ACA390466307TTLL5c.1589G>A (p.Ser530Asn)
c.116G>A (p.Ser39Asn)
n.895G>A
c.242G>A (p.Ser81Asn)
n.323G>A
c.1631G>A (p.Ser544Asn)
 gnomAD v4
14g.75764653G>CCA390466306TTLL5c.1589G>C (p.Ser530Thr)
c.116G>C (p.Ser39Thr)
n.895G>C
c.242G>C (p.Ser81Thr)
n.323G>C
c.1631G>C (p.Ser544Thr)
14g.75764653G>TCA390466305TTLL5c.1589G>T (p.Ser530Ile)
c.116G>T (p.Ser39Ile)
n.895G>T
c.242G>T (p.Ser81Ile)
n.323G>T
c.1631G>T (p.Ser544Ile)
14g.75764654T>ACA390466308TTLL5c.1590T>A (p.Ser530Arg)
c.117T>A (p.Ser39Arg)
n.896T>A
c.243T>A (p.Ser81Arg)
n.324T>A
c.1632T>A (p.Ser544Arg)
14g.75764654T>CCA487189093TTLL5c.1590T>C (p.Ser530=)
c.117T>C (p.Ser39=)
n.896T>C
c.243T>C (p.Ser81=)
n.324T>C
c.1632T>C (p.Ser544=)
 dbSNP gnomAD v2 gnomAD v4
14g.75764654T>GCA390466309TTLL5c.1590T>G (p.Ser530Arg)
c.117T>G (p.Ser39Arg)
n.896T>G
c.243T>G (p.Ser81Arg)
n.324T>G
c.1632T>G (p.Ser544Arg)
14g.75764654T=CA2147633253TTLL5c.1590T= (p.Ser530=)
c.117T= (p.Ser39=)
n.896T=
c.243T= (p.Ser81=)
n.324T=
c.1632T= (p.Ser544=)
14g.75764655C>ACA390466310TTLL5c.1591C>A (p.Leu531Met)
c.118C>A (p.Leu40Met)
n.897C>A
c.244C>A (p.Leu82Met)
n.325C>A
c.1633C>A (p.Leu545Met)
14g.75764655C>GCA390466311TTLL5c.1591C>G (p.Leu531Val)
c.118C>G (p.Leu40Val)
n.897C>G
c.244C>G (p.Leu82Val)
n.325C>G
c.1633C>G (p.Leu545Val)
14g.75764655C>TCA487189094TTLL5c.1591C>T (p.Leu531=)
c.118C>T (p.Leu40=)
n.897C>T
c.244C>T (p.Leu82=)
n.325C>T
c.1633C>T (p.Leu545=)
14g.75764656T>ACA390466312TTLL5c.1592T>A (p.Leu531Gln)
c.119T>A (p.Leu40Gln)
n.898T>A
c.245T>A (p.Leu82Gln)
n.326T>A
c.1634T>A (p.Leu545Gln)
14g.75764656T>CCA7279469TTLL5c.1592T>C (p.Leu531Pro)
c.119T>C (p.Leu40Pro)
n.898T>C
c.245T>C (p.Leu82Pro)
n.326T>C
c.1634T>C (p.Leu545Pro)
 ClinVar dbSNP ExAC gnomAD v2
14g.75764656T>GCA390466313TTLL5c.1592T>G (p.Leu531Arg)
c.119T>G (p.Leu40Arg)
n.898T>G
c.245T>G (p.Leu82Arg)
n.326T>G
c.1634T>G (p.Leu545Arg)
14g.75764656T=CA2147633254TTLL5c.1592T= (p.Leu531=)
c.119T= (p.Leu40=)
n.898T=
c.245T= (p.Leu82=)
n.326T=
c.1634T= (p.Leu545=)
14g.75764657G>ACA487189095TTLL5c.1593G>A (p.Leu531=)
c.120G>A (p.Leu40=)
n.899G>A
c.246G>A (p.Leu82=)
n.327G>A
c.1635G>A (p.Leu545=)
14g.75764657G>CCA487189097TTLL5c.1593G>C (p.Leu531=)
c.120G>C (p.Leu40=)
n.899G>C
c.246G>C (p.Leu82=)
n.327G>C
c.1635G>C (p.Leu545=)
14g.75764657G>TCA487189096TTLL5c.1593G>T (p.Leu531=)
c.120G>T (p.Leu40=)
n.899G>T
c.246G>T (p.Leu82=)
n.327G>T
c.1635G>T (p.Leu545=)
14g.75764657_75764659dupCA7279468TTLL5c.1593_1595dup (p.Leu531_Asn532insLys)
c.120_122dup (p.Leu40_Asn41insLys)
n.899_901dup
c.246_248dup (p.Leu82_Asn83insLys)
n.327_329dup
c.1635_1637dup (p.Leu545_Asn546insLys)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.75764658A=CA2147633255TTLL5c.1594A= (p.Asn532=)
c.121A= (p.Asn41=)
n.900A=
c.247A= (p.Asn83=)
n.328A=
c.1636A= (p.Asn546=)
14g.75764658A>CCA7279470TTLL5c.1594A>C (p.Asn532His)
c.121A>C (p.Asn41His)
n.900A>C
c.247A>C (p.Asn83His)
n.328A>C
c.1636A>C (p.Asn546His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75764658A>GCA390466314TTLL5c.1594A>G (p.Asn532Asp)
c.121A>G (p.Asn41Asp)
n.900A>G
c.247A>G (p.Asn83Asp)
n.328A>G
c.1636A>G (p.Asn546Asp)
14g.75764658A>TCA390466315TTLL5c.1594A>T (p.Asn532Tyr)
c.121A>T (p.Asn41Tyr)
n.900A>T
c.247A>T (p.Asn83Tyr)
n.328A>T
c.1636A>T (p.Asn546Tyr)
14g.75764659A=CA2147633256TTLL5c.1595A= (p.Asn532=)
c.122A= (p.Asn41=)
n.901A=
c.248A= (p.Asn83=)
n.329A=
c.1637A= (p.Asn546=)
14g.75764659A>CCA390466316TTLL5c.1595A>C (p.Asn532Thr)
c.122A>C (p.Asn41Thr)
n.901A>C
c.248A>C (p.Asn83Thr)
n.329A>C
c.1637A>C (p.Asn546Thr)
14g.75764659A>GCA390466317TTLL5c.1595A>G (p.Asn532Ser)
c.122A>G (p.Asn41Ser)
n.901A>G
c.248A>G (p.Asn83Ser)
n.329A>G
c.1637A>G (p.Asn546Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.75764659A>TCA390466318TTLL5c.1595A>T (p.Asn532Ile)
c.122A>T (p.Asn41Ile)
n.901A>T
c.248A>T (p.Asn83Ile)
n.329A>T
c.1637A>T (p.Asn546Ile)
14g.75764660T>ACA390466319TTLL5c.1596T>A (p.Asn532Lys)
c.123T>A (p.Asn41Lys)
n.902T>A
c.249T>A (p.Asn83Lys)
n.330T>A
c.1638T>A (p.Asn546Lys)
 dbSNP
14g.75764660T>CCA487189098TTLL5c.1596T>C (p.Asn532=)
c.123T>C (p.Asn41=)
n.902T>C
c.249T>C (p.Asn83=)
n.330T>C
c.1638T>C (p.Asn546=)
14g.75764660T>GCA390466320TTLL5c.1596T>G (p.Asn532Lys)
c.123T>G (p.Asn41Lys)
n.902T>G
c.249T>G (p.Asn83Lys)
n.330T>G
c.1638T>G (p.Asn546Lys)
14g.75764660T=CA2147633257TTLL5c.1596T= (p.Asn532=)
c.123T= (p.Asn41=)
n.902T=
c.249T= (p.Asn83=)
n.330T=
c.1638T= (p.Asn546=)
14g.75764661T>ACA390466321TTLL5c.1597T>A (p.Ser533Thr)
c.124T>A (p.Ser42Thr)
n.903T>A
c.250T>A (p.Ser84Thr)
n.331T>A
c.1639T>A (p.Ser547Thr)
14g.75764661T>CCA390466322TTLL5c.1597T>C (p.Ser533Pro)
c.124T>C (p.Ser42Pro)
n.903T>C
c.250T>C (p.Ser84Pro)
n.331T>C
c.1639T>C (p.Ser547Pro)
14g.75764661T>GCA390466323TTLL5c.1597T>G (p.Ser533Ala)
c.124T>G (p.Ser42Ala)
n.903T>G
c.250T>G (p.Ser84Ala)
n.331T>G
c.1639T>G (p.Ser547Ala)
14g.75764662C>ACA390466324TTLL5c.1598C>A (p.Ser533Ter)
c.125C>A (p.Ser42Ter)
n.904C>A
c.251C>A (p.Ser84Ter)
n.332C>A
c.1640C>A (p.Ser547Ter)
14g.75764662C=CA2147633258TTLL5c.1598C= (p.Ser533=)
c.125C= (p.Ser42=)
n.904C=
c.251C= (p.Ser84=)
n.332C=
c.1640C= (p.Ser547=)
14g.75764662C>GCA390466325TTLL5c.1598C>G (p.Ser533Ter)
c.125C>G (p.Ser42Ter)
n.904C>G
c.251C>G (p.Ser84Ter)
n.332C>G
c.1640C>G (p.Ser547Ter)
14g.75764662C>TCA390466326TTLL5c.1598C>T (p.Ser533Leu)
c.125C>T (p.Ser42Leu)
n.904C>T
c.251C>T (p.Ser84Leu)
n.332C>T
c.1640C>T (p.Ser547Leu)
14g.75764662_75764663insTATAAGTTTGACAGATCA2147633259TTLL5c.1598_1599insTATAAGTTTGACAGAT (p.Lys534IlefsTer27)
c.125_126insTATAAGTTTGACAGAT (p.Lys43IlefsTer27)
n.904_905insTATAAGTTTGACAGAT
c.251_252insTATAAGTTTGACAGAT (p.Lys85IlefsTer27)
n.332_333insTATAAGTTTGACAGAT
c.1640_1641insTATAAGTTTGACAGAT (p.Lys548IlefsTer27)
 dbSNP
14g.75764663A>CCA487189099TTLL5c.1599A>C (p.Ser533=)
c.126A>C (p.Ser42=)
n.905A>C
c.252A>C (p.Ser84=)
n.333A>C
c.1641A>C (p.Ser547=)
14g.75764663A>GCA487189100TTLL5c.1599A>G (p.Ser533=)
c.126A>G (p.Ser42=)
n.905A>G
c.252A>G (p.Ser84=)
n.333A>G
c.1641A>G (p.Ser547=)
 gnomAD v4
14g.75764663A>TCA487189101TTLL5c.1599A>T (p.Ser533=)
c.126A>T (p.Ser42=)
n.905A>T
c.252A>T (p.Ser84=)
n.333A>T
c.1641A>T (p.Ser547=)
14g.75764664A=CA2147633260TTLL5c.1600A= (p.Lys534=)
c.127A= (p.Lys43=)
n.906A=
c.253A= (p.Lys85=)
n.334A=
c.1642A= (p.Lys548=)
14g.75764664A>CCA390466327TTLL5c.1600A>C (p.Lys534Gln)
c.127A>C (p.Lys43Gln)
n.906A>C
c.253A>C (p.Lys85Gln)
n.334A>C
c.1642A>C (p.Lys548Gln)
14g.75764664A>GCA263693988TTLL5c.1600A>G (p.Lys534Glu)
c.127A>G (p.Lys43Glu)
n.906A>G
c.253A>G (p.Lys85Glu)
n.334A>G
c.1642A>G (p.Lys548Glu)
 dbSNP gnomAD v2 gnomAD v4
14g.75764664A>TCA390466328TTLL5c.1600A>T (p.Lys534Ter)
c.127A>T (p.Lys43Ter)
n.906A>T
c.253A>T (p.Lys85Ter)
n.334A>T
c.1642A>T (p.Lys548Ter)
14g.75764665A>CCA390466329TTLL5c.1601A>C (p.Lys534Thr)
c.128A>C (p.Lys43Thr)
n.907A>C
c.254A>C (p.Lys85Thr)
n.335A>C
c.1643A>C (p.Lys548Thr)
14g.75764665A>GCA390466330TTLL5c.1601A>G (p.Lys534Arg)
c.128A>G (p.Lys43Arg)
n.907A>G
c.254A>G (p.Lys85Arg)
n.335A>G
c.1643A>G (p.Lys548Arg)
 gnomAD v4
14g.75764665A>TCA390466331TTLL5c.1601A>T (p.Lys534Met)
c.128A>T (p.Lys43Met)
n.907A>T
c.254A>T (p.Lys85Met)
n.335A>T
c.1643A>T (p.Lys548Met)
14g.75764666G>ACA487189102TTLL5c.1602G>A (p.Lys534=)
c.129G>A (p.Lys43=)
n.908G>A
c.255G>A (p.Lys85=)
n.336G>A
c.1644G>A (p.Lys548=)
14g.75764666G>CCA390466333TTLL5c.1602G>C (p.Lys534Asn)
c.129G>C (p.Lys43Asn)
n.908G>C
c.255G>C (p.Lys85Asn)
n.336G>C
c.1644G>C (p.Lys548Asn)
14g.75764666G>TCA390466332TTLL5c.1602G>T (p.Lys534Asn)
c.129G>T (p.Lys43Asn)
n.908G>T
c.255G>T (p.Lys85Asn)
n.336G>T
c.1644G>T (p.Lys548Asn)
14g.75764667G>ACA7279471TTLL5c.1603G>A (p.Ala535Thr)
c.130G>A (p.Ala44Thr)
n.909G>A
c.256G>A (p.Ala86Thr)
n.337G>A
c.1645G>A (p.Ala549Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75764667G>CCA390466335TTLL5c.1603G>C (p.Ala535Pro)
c.130G>C (p.Ala44Pro)
n.909G>C
c.256G>C (p.Ala86Pro)
n.337G>C
c.1645G>C (p.Ala549Pro)
 dbSNP gnomAD v3 gnomAD v4
14g.75764667G=CA2147633261TTLL5c.1603G= (p.Ala535=)
c.130G= (p.Ala44=)
n.909G=
c.256G= (p.Ala86=)
n.337G=
c.1645G= (p.Ala549=)
14g.75764667G>TCA390466334TTLL5c.1603G>T (p.Ala535Ser)
c.130G>T (p.Ala44Ser)
n.909G>T
c.256G>T (p.Ala86Ser)
n.337G>T
c.1645G>T (p.Ala549Ser)
14g.75764668C>ACA390466336TTLL5c.1604C>A (p.Ala535Asp)
c.131C>A (p.Ala44Asp)
n.910C>A
c.257C>A (p.Ala86Asp)
n.338C>A
c.1646C>A (p.Ala549Asp)
14g.75764668C>GCA390466337TTLL5c.1604C>G (p.Ala535Gly)
c.131C>G (p.Ala44Gly)
n.910C>G
c.257C>G (p.Ala86Gly)
n.338C>G
c.1646C>G (p.Ala549Gly)
14g.75764668C>TCA390466338TTLL5c.1604C>T (p.Ala535Val)
c.131C>T (p.Ala44Val)
n.910C>T
c.257C>T (p.Ala86Val)
n.338C>T
c.1646C>T (p.Ala549Val)
14g.75764669C>ACA487189103TTLL5c.1605C>A (p.Ala535=)
c.132C>A (p.Ala44=)
n.911C>A
c.258C>A (p.Ala86=)
n.339C>A
c.1647C>A (p.Ala549=)
14g.75764669C=CA2147633262TTLL5c.1605C= (p.Ala535=)
c.132C= (p.Ala44=)
n.911C=
c.258C= (p.Ala86=)
n.339C=
c.1647C= (p.Ala549=)
14g.75764669C>GCA487189104TTLL5c.1605C>G (p.Ala535=)
c.132C>G (p.Ala44=)
n.911C>G
c.258C>G (p.Ala86=)
n.339C>G
c.1647C>G (p.Ala549=)
 dbSNP gnomAD v2 gnomAD v4
14g.75764669C>TCA487189105TTLL5c.1605C>T (p.Ala535=)
c.132C>T (p.Ala44=)
n.911C>T
c.258C>T (p.Ala86=)
n.339C>T
c.1647C>T (p.Ala549=)
14g.75764670A=CA2147633263TTLL5c.1606A= (p.Lys536=)
c.133A= (p.Lys45=)
n.912A=
c.259A= (p.Lys87=)
n.340A=
c.1648A= (p.Lys550=)
14g.75764670A>CCA390466339TTLL5c.1606A>C (p.Lys536Gln)
c.133A>C (p.Lys45Gln)
n.912A>C
c.259A>C (p.Lys87Gln)
n.340A>C
c.1648A>C (p.Lys550Gln)
14g.75764670A>GCA390466340TTLL5c.1606A>G (p.Lys536Glu)
c.133A>G (p.Lys45Glu)
n.912A>G
c.259A>G (p.Lys87Glu)
n.340A>G
c.1648A>G (p.Lys550Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.75764670A>TCA390466341TTLL5c.1606A>T (p.Lys536Ter)
c.133A>T (p.Lys45Ter)
n.912A>T
c.259A>T (p.Lys87Ter)
n.340A>T
c.1648A>T (p.Lys550Ter)
14g.75764671A=CA2147633264TTLL5c.1607A= (p.Lys536=)
c.134A= (p.Lys45=)
n.913A=
c.260A= (p.Lys87=)
n.341A=
c.1649A= (p.Lys550=)
14g.75764671A>CCA390466342TTLL5c.1607A>C (p.Lys536Thr)
c.134A>C (p.Lys45Thr)
n.913A>C
c.260A>C (p.Lys87Thr)
n.341A>C
c.1649A>C (p.Lys550Thr)
14g.75764671A>GCA390466343TTLL5c.1607A>G (p.Lys536Arg)
c.134A>G (p.Lys45Arg)
n.913A>G
c.260A>G (p.Lys87Arg)
n.341A>G
c.1649A>G (p.Lys550Arg)
 ClinVar dbSNP gnomAD v4
14g.75764671A>TCA390466344TTLL5c.1607A>T (p.Lys536Met)
c.134A>T (p.Lys45Met)
n.913A>T
c.260A>T (p.Lys87Met)
n.341A>T
c.1649A>T (p.Lys550Met)
14g.75764672G>ACA487189106TTLL5c.1608G>A (p.Lys536=)
c.135G>A (p.Lys45=)
n.914G>A
c.261G>A (p.Lys87=)
n.342G>A
c.1650G>A (p.Lys550=)
 dbSNP
14g.75764672G>CCA390466345TTLL5c.1608G>C (p.Lys536Asn)
c.135G>C (p.Lys45Asn)
n.914G>C
c.261G>C (p.Lys87Asn)
n.342G>C
c.1650G>C (p.Lys550Asn)
14g.75764672G=CA2147633265TTLL5c.1608G= (p.Lys536=)
c.135G= (p.Lys45=)
n.914G=
c.261G= (p.Lys87=)
n.342G=
c.1650G= (p.Lys550=)
14g.75764672G>TCA390466346TTLL5c.1608G>T (p.Lys536Asn)
c.135G>T (p.Lys45Asn)
n.914G>T
c.261G>T (p.Lys87Asn)
n.342G>T
c.1650G>T (p.Lys550Asn)
14g.75764673C>ACA390466347TTLL5c.1609C>A (p.Leu537Met)
c.136C>A (p.Leu46Met)
n.915C>A
c.262C>A (p.Leu88Met)
n.343C>A
c.1651C>A (p.Leu551Met)
14g.75764673C>GCA390466348TTLL5c.1609C>G (p.Leu537Val)
c.136C>G (p.Leu46Val)
n.915C>G
c.262C>G (p.Leu88Val)
n.343C>G
c.1651C>G (p.Leu551Val)
14g.75764673C>TCA487189107TTLL5c.1609C>T (p.Leu537=)
c.136C>T (p.Leu46=)
n.915C>T
c.262C>T (p.Leu88=)
n.343C>T
c.1651C>T (p.Leu551=)
14g.75764674T>ACA390466349TTLL5c.1610T>A (p.Leu537Gln)
c.137T>A (p.Leu46Gln)
n.916T>A
c.263T>A (p.Leu88Gln)
n.344T>A
c.1652T>A (p.Leu551Gln)
 dbSNP gnomAD v3 gnomAD v4
14g.75764674T>CCA390466351TTLL5c.1610T>C (p.Leu537Pro)
c.137T>C (p.Leu46Pro)
n.916T>C
c.263T>C (p.Leu88Pro)
n.344T>C
c.1652T>C (p.Leu551Pro)
 dbSNP gnomAD v3 gnomAD v4
14g.75764674T>GCA390466350TTLL5c.1610T>G (p.Leu537Arg)
c.137T>G (p.Leu46Arg)
n.916T>G
c.263T>G (p.Leu88Arg)
n.344T>G
c.1652T>G (p.Leu551Arg)
14g.75764674T=CA2147633266TTLL5c.1610T= (p.Leu537=)
c.137T= (p.Leu46=)
n.916T=
c.263T= (p.Leu88=)
n.344T=
c.1652T= (p.Leu551=)
14g.75764675G>ACA487189108TTLL5c.1611G>A (p.Leu537=)
c.138G>A (p.Leu46=)
n.917G>A
c.264G>A (p.Leu88=)
n.345G>A
c.1653G>A (p.Leu551=)
14g.75764675G>CCA487189109TTLL5c.1611G>C (p.Leu537=)
c.138G>C (p.Leu46=)
n.917G>C
c.264G>C (p.Leu88=)
n.345G>C
c.1653G>C (p.Leu551=)
14g.75764675G=CA2147633267TTLL5c.1611G= (p.Leu537=)
c.138G= (p.Leu46=)
n.917G=
c.264G= (p.Leu88=)
n.345G=
c.1653G= (p.Leu551=)
14g.75764675G>TCA487189110TTLL5c.1611G>T (p.Leu537=)
c.138G>T (p.Leu46=)
n.917G>T
c.264G>T (p.Leu88=)
n.345G>T
c.1653G>T (p.Leu551=)
 dbSNP gnomAD v4
14g.75764676C>ACA390466352TTLL5c.1612C>A (p.His538Asn)
c.139C>A (p.His47Asn)
n.918C>A
c.265C>A (p.His89Asn)
n.346C>A
c.1654C>A (p.His552Asn)
14g.75764676C>GCA390466353TTLL5c.1612C>G (p.His538Asp)
c.139C>G (p.His47Asp)
n.918C>G
c.265C>G (p.His89Asp)
n.346C>G
c.1654C>G (p.His552Asp)
14g.75764676C>TCA390466354TTLL5c.1612C>T (p.His538Tyr)
c.139C>T (p.His47Tyr)
n.918C>T
c.265C>T (p.His89Tyr)
n.346C>T
c.1654C>T (p.His552Tyr)
14g.75764677A>CCA390466355TTLL5c.1613A>C (p.His538Pro)
c.140A>C (p.His47Pro)
n.919A>C
c.266A>C (p.His89Pro)
n.347A>C
c.1655A>C (p.His552Pro)
14g.75764677A>GCA390466356TTLL5c.1613A>G (p.His538Arg)
c.140A>G (p.His47Arg)
n.919A>G
c.266A>G (p.His89Arg)
n.347A>G
c.1655A>G (p.His552Arg)
14g.75764677A>TCA390466357TTLL5c.1613A>T (p.His538Leu)
c.140A>T (p.His47Leu)
n.919A>T
c.266A>T (p.His89Leu)
n.347A>T
c.1655A>T (p.His552Leu)
14g.75764678T>ACA390466358TTLL5c.1614T>A (p.His538Gln)
c.141T>A (p.His47Gln)
n.920T>A
c.267T>A (p.His89Gln)
n.348T>A
c.1656T>A (p.His552Gln)
14g.75764678T>CCA487189111TTLL5c.1614T>C (p.His538=)
c.141T>C (p.His47=)
n.920T>C
c.267T>C (p.His89=)
n.348T>C
c.1656T>C (p.His552=)
14g.75764678T>GCA390466359TTLL5c.1614T>G (p.His538Gln)
c.141T>G (p.His47Gln)
n.920T>G
c.267T>G (p.His89Gln)
n.348T>G
c.1656T>G (p.His552Gln)
14g.75764679G>ACA390466360TTLL5c.1615G>A (p.Ala539Thr)
c.142G>A (p.Ala48Thr)
n.921G>A
c.268G>A (p.Ala90Thr)
n.349G>A
c.1657G>A (p.Ala553Thr)
14g.75764679G>CCA390466361TTLL5c.1615G>C (p.Ala539Pro)
c.142G>C (p.Ala48Pro)
n.921G>C
c.268G>C (p.Ala90Pro)
n.349G>C
c.1657G>C (p.Ala553Pro)
14g.75764679G>TCA390466362TTLL5c.1615G>T (p.Ala539Ser)
c.142G>T (p.Ala48Ser)
n.921G>T
c.268G>T (p.Ala90Ser)
n.349G>T
c.1657G>T (p.Ala553Ser)
14g.75764680C>ACA390466365TTLL5c.1616C>A (p.Ala539Asp)
c.143C>A (p.Ala48Asp)
n.922C>A
c.269C>A (p.Ala90Asp)
n.350C>A
c.1658C>A (p.Ala553Asp)
14g.75764680C>GCA390466364TTLL5c.1616C>G (p.Ala539Gly)
c.143C>G (p.Ala48Gly)
n.922C>G
c.269C>G (p.Ala90Gly)
n.350C>G
c.1658C>G (p.Ala553Gly)
14g.75764680C>TCA390466363TTLL5c.1616C>T (p.Ala539Val)
c.143C>T (p.Ala48Val)
n.922C>T
c.269C>T (p.Ala90Val)
n.350C>T
c.1658C>T (p.Ala553Val)
 gnomAD v4
14g.75764681T>ACA487189112TTLL5c.1617T>A (p.Ala539=)
c.144T>A (p.Ala48=)
n.923T>A
c.270T>A (p.Ala90=)
n.351T>A
c.1659T>A (p.Ala553=)
14g.75764681T>CCA487189113TTLL5c.1617T>C (p.Ala539=)
c.144T>C (p.Ala48=)
n.923T>C
c.270T>C (p.Ala90=)
n.351T>C
c.1659T>C (p.Ala553=)
14g.75764681T>GCA487189114TTLL5c.1617T>G (p.Ala539=)
c.144T>G (p.Ala48=)
n.923T>G
c.270T>G (p.Ala90=)
n.351T>G
c.1659T>G (p.Ala553=)
14g.75764682G>ACA390466367TTLL5c.1618G>A (p.Ala540Thr)
c.145G>A (p.Ala49Thr)
n.924G>A
c.271G>A (p.Ala91Thr)
n.352G>A
c.1660G>A (p.Ala554Thr)
14g.75764682G>CCA390466366TTLL5c.1618G>C (p.Ala540Pro)
c.145G>C (p.Ala49Pro)
n.924G>C
c.271G>C (p.Ala91Pro)
n.352G>C
c.1660G>C (p.Ala554Pro)
14g.75764682G>TCA390466368TTLL5c.1618G>T (p.Ala540Ser)
c.145G>T (p.Ala49Ser)
n.924G>T
c.271G>T (p.Ala91Ser)
n.352G>T
c.1660G>T (p.Ala554Ser)
14g.75764683C>ACA390466369TTLL5c.1619C>A (p.Ala540Glu)
c.146C>A (p.Ala49Glu)
n.925C>A
c.272C>A (p.Ala91Glu)
n.353C>A
c.1661C>A (p.Ala554Glu)
14g.75764683C=CA2147633268TTLL5c.1619C= (p.Ala540=)
c.146C= (p.Ala49=)
n.925C=
c.272C= (p.Ala91=)
n.353C=
c.1661C= (p.Ala554=)
14g.75764683C>GCA390466370TTLL5c.1619C>G (p.Ala540Gly)
c.146C>G (p.Ala49Gly)
n.925C>G
c.272C>G (p.Ala91Gly)
n.353C>G
c.1661C>G (p.Ala554Gly)
14g.75764683C>TCA390466371TTLL5c.1619C>T (p.Ala540Val)
c.146C>T (p.Ala49Val)
n.925C>T
c.272C>T (p.Ala91Val)
n.353C>T
c.1661C>T (p.Ala554Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.75764684A=CA2147633269TTLL5c.1620A= (p.Ala540=)
c.147A= (p.Ala49=)
n.926A=
c.273A= (p.Ala91=)
n.354A=
c.1662A= (p.Ala554=)
14g.75764684A>CCA487189115TTLL5c.1620A>C (p.Ala540=)
c.147A>C (p.Ala49=)
n.926A>C
c.273A>C (p.Ala91=)
n.354A>C
c.1662A>C (p.Ala554=)
14g.75764684A>GCA487189116TTLL5c.1620A>G (p.Ala540=)
c.147A>G (p.Ala49=)
n.926A>G
c.273A>G (p.Ala91=)
n.354A>G
c.1662A>G (p.Ala554=)
 dbSNP gnomAD v4
14g.75764684A>TCA487189117TTLL5c.1620A>T (p.Ala540=)
c.147A>T (p.Ala49=)
n.926A>T
c.273A>T (p.Ala91=)
n.354A>T
c.1662A>T (p.Ala554=)
14g.75764685C>ACA390466372TTLL5c.1621C>A (p.Leu541Ile)
c.148C>A (p.Leu50Ile)
n.927C>A
c.274C>A (p.Leu92Ile)
n.355C>A
c.1663C>A (p.Leu555Ile)
14g.75764685C=CA2147633270TTLL5c.1621C= (p.Leu541=)
c.148C= (p.Leu50=)
n.927C=
c.274C= (p.Leu92=)
n.355C=
c.1663C= (p.Leu555=)
14g.75764685C>GCA390466373TTLL5c.1621C>G (p.Leu541Val)
c.148C>G (p.Leu50Val)
n.927C>G
c.274C>G (p.Leu92Val)
n.355C>G
c.1663C>G (p.Leu555Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.75764685C>TCA390466374TTLL5c.1621C>T (p.Leu541Phe)
c.148C>T (p.Leu50Phe)
n.927C>T
c.274C>T (p.Leu92Phe)
n.355C>T
c.1663C>T (p.Leu555Phe)
14g.75764686T>ACA390466375TTLL5c.1622T>A (p.Leu541His)
c.149T>A (p.Leu50His)
n.928T>A
c.275T>A (p.Leu92His)
n.356T>A
c.1664T>A (p.Leu555His)
14g.75764686T>CCA390466376TTLL5c.1622T>C (p.Leu541Pro)
c.149T>C (p.Leu50Pro)
n.928T>C
c.275T>C (p.Leu92Pro)
n.356T>C
c.1664T>C (p.Leu555Pro)
14g.75764686T>GCA390466377TTLL5c.1622T>G (p.Leu541Arg)
c.149T>G (p.Leu50Arg)
n.928T>G
c.275T>G (p.Leu92Arg)
n.356T>G
c.1664T>G (p.Leu555Arg)
14g.75764687T>ACA487189119TTLL5c.1623T>A (p.Leu541=)
c.150T>A (p.Leu50=)
n.929T>A
c.276T>A (p.Leu92=)
n.357T>A
c.1665T>A (p.Leu555=)
14g.75764687T>CCA487189120TTLL5c.1623T>C (p.Leu541=)
c.150T>C (p.Leu50=)
n.929T>C
c.276T>C (p.Leu92=)
n.357T>C
c.1665T>C (p.Leu555=)
14g.75764687T>GCA487189118TTLL5c.1623T>G (p.Leu541=)
c.150T>G (p.Leu50=)
n.929T>G
c.276T>G (p.Leu92=)
n.357T>G
c.1665T>G (p.Leu555=)
 dbSNP gnomAD v4
14g.75764687T=CA2147633271TTLL5c.1623T= (p.Leu541=)
c.150T= (p.Leu50=)
n.929T=
c.276T= (p.Leu92=)
n.357T=
c.1665T= (p.Leu555=)
14g.75764688T>ACA390466378TTLL5c.1624T>A (p.Tyr542Asn)
c.151T>A (p.Tyr51Asn)
n.930T>A
c.277T>A (p.Tyr93Asn)
n.358T>A
c.1666T>A (p.Tyr556Asn)
14g.75764688T>CCA7279472TTLL5c.1624T>C (p.Tyr542His)
c.151T>C (p.Tyr51His)
n.930T>C
c.277T>C (p.Tyr93His)
n.358T>C
c.1666T>C (p.Tyr556His)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.75764688T>GCA390466379TTLL5c.1624T>G (p.Tyr542Asp)
c.151T>G (p.Tyr51Asp)
n.930T>G
c.277T>G (p.Tyr93Asp)
n.358T>G
c.1666T>G (p.Tyr556Asp)
 ClinVar dbSNP gnomAD v4
14g.75764688T=CA2147633272TTLL5c.1624T= (p.Tyr542=)
c.151T= (p.Tyr51=)
n.930T=
c.277T= (p.Tyr93=)
n.358T=
c.1666T= (p.Tyr556=)
14g.75764689A>CCA390466382TTLL5c.1625A>C (p.Tyr542Ser)
c.152A>C (p.Tyr51Ser)
n.931A>C
c.278A>C (p.Tyr93Ser)
n.359A>C
c.1667A>C (p.Tyr556Ser)
14g.75764689A>GCA390466381TTLL5c.1625A>G (p.Tyr542Cys)
c.152A>G (p.Tyr51Cys)
n.931A>G
c.278A>G (p.Tyr93Cys)
n.359A>G
c.1667A>G (p.Tyr556Cys)
14g.75764689A>TCA390466380TTLL5c.1625A>T (p.Tyr542Phe)
c.152A>T (p.Tyr51Phe)
n.931A>T
c.278A>T (p.Tyr93Phe)
n.359A>T
c.1667A>T (p.Tyr556Phe)
14g.75764690C>ACA390466383TTLL5c.1626C>A (p.Tyr542Ter)
c.153C>A (p.Tyr51Ter)
n.932C>A
c.279C>A (p.Tyr93Ter)
n.360C>A
c.1668C>A (p.Tyr556Ter)
14g.75764690C=CA2147633273TTLL5c.1626C= (p.Tyr542=)
c.153C= (p.Tyr51=)
n.932C=
c.279C= (p.Tyr93=)
n.360C=
c.1668C= (p.Tyr556=)
14g.75764690C>GCA390466384TTLL5c.1626C>G (p.Tyr542Ter)
c.153C>G (p.Tyr51Ter)
n.932C>G
c.279C>G (p.Tyr93Ter)
n.360C>G
c.1668C>G (p.Tyr556Ter)
14g.75764690C>TCA7279473TTLL5c.1626C>T (p.Tyr542=)
c.153C>T (p.Tyr51=)
n.932C>T
c.279C>T (p.Tyr93=)
n.360C>T
c.1668C>T (p.Tyr556=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75764691G>ACA210615TTLL5c.1627G>A (p.Glu543Lys)
c.154G>A (p.Glu52Lys)
n.933G>A
c.280G>A (p.Glu94Lys)
n.361G>A
c.1669G>A (p.Glu557Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75764691G>CCA390466385TTLL5c.1627G>C (p.Glu543Gln)
c.154G>C (p.Glu52Gln)
n.933G>C
c.280G>C (p.Glu94Gln)
n.361G>C
c.1669G>C (p.Glu557Gln)
14g.75764691G=CA2147633274TTLL5c.1627G= (p.Glu543=)
c.154G= (p.Glu52=)
n.933G=
c.280G= (p.Glu94=)
n.361G=
c.1669G= (p.Glu557=)
14g.75764691G>TCA210613TTLL5c.1627G>T (p.Glu543Ter)
c.154G>T (p.Glu52Ter)
n.933G>T
c.280G>T (p.Glu94Ter)
n.361G>T
c.1669G>T (p.Glu557Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched