Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.21709871G>ACA7952548OTOAc.1105-17G>A (n.1105-17G>A)
c.981-17G>A (n.981-17G>A)
c.1147-17G>A (n.1147-17G>A)
c.868-17G>A (n.868-17G>A)
c.133-17G>A (n.133-17G>A)
n.325-17G>A
n.479-17G>A
c.-27-17G>A (n.-27-17G>A)
n.200-17G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.21709871G>CCA2581255667OTOAc.1105-17G>C (n.1105-17G>C)
c.981-17G>C (n.981-17G>C)
c.1147-17G>C (n.1147-17G>C)
c.868-17G>C (n.868-17G>C)
c.133-17G>C (n.133-17G>C)
n.325-17G>C
n.479-17G>C
c.-27-17G>C (n.-27-17G>C)
n.200-17G>C
16g.21709871G=CA2212563256OTOAc.1105-17G= (n.1105-17G=)
c.981-17G= (n.981-17G=)
c.1147-17G= (n.1147-17G=)
c.868-17G= (n.868-17G=)
c.133-17G= (n.133-17G=)
n.325-17G=
n.479-17G=
c.-27-17G= (n.-27-17G=)
n.200-17G=
16g.21709871G>TCA2581255666OTOAc.1105-17G>T (n.1105-17G>T)
c.981-17G>T (n.981-17G>T)
c.1147-17G>T (n.1147-17G>T)
c.868-17G>T (n.868-17G>T)
c.133-17G>T (n.133-17G>T)
n.325-17G>T
n.479-17G>T
c.-27-17G>T (n.-27-17G>T)
n.200-17G>T
16g.21709874delCA2575939975OTOAc.1105-14del (n.1105-14del)
c.981-14del (n.981-14del)
c.1147-14del (n.1147-14del)
c.868-14del (n.868-14del)
c.133-14del (n.133-14del)
n.325-14del
n.479-14del
c.-27-14del (n.-27-14del)
n.200-14del
16g.21709873T>GCA2632220210OTOAc.1105-15T>G (n.1105-15T>G)
c.981-15T>G (n.981-15T>G)
c.1147-15T>G (n.1147-15T>G)
c.868-15T>G (n.868-15T>G)
c.133-15T>G (n.133-15T>G)
n.325-15T>G
n.479-15T>G
c.-27-15T>G (n.-27-15T>G)
n.200-15T>G
 gnomAD v4
16g.21709874_21709875delinsTGCA2212563261OTOAc.1105-14_1105-13delinsTG (n.1105-14_1105-13delinsTG)
c.981-14_981-13delinsTG (n.981-14_981-13delinsTG)
c.1147-14_1147-13delinsTG (n.1147-14_1147-13delinsTG)
c.868-14_868-13delinsTG (n.868-14_868-13delinsTG)
c.133-14_133-13delinsTG (n.133-14_133-13delinsTG)
n.325-14_325-13delinsTG
n.479-14_479-13delinsTG
c.-27-14_-27-13delinsTG (n.-27-14_-27-13delinsTG)
n.200-14_200-13delinsTG
16g.21709875delCA7952549OTOAc.1105-13del (n.1105-13del)
c.981-13del (n.981-13del)
c.1147-13del (n.1147-13del)
c.868-13del (n.868-13del)
c.133-13del (n.133-13del)
n.325-13del
n.479-13del
c.-27-13del (n.-27-13del)
n.200-13del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.21709875G>ACA2632220211OTOAc.1105-13G>A (n.1105-13G>A)
c.981-13G>A (n.981-13G>A)
c.1147-13G>A (n.1147-13G>A)
c.868-13G>A (n.868-13G>A)
c.133-13G>A (n.133-13G>A)
n.325-13G>A
n.479-13G>A
c.-27-13G>A (n.-27-13G>A)
n.200-13G>A
 gnomAD v4
16g.21709875G>CCA2632220212OTOAc.1105-13G>C (n.1105-13G>C)
c.981-13G>C (n.981-13G>C)
c.1147-13G>C (n.1147-13G>C)
c.868-13G>C (n.868-13G>C)
c.133-13G>C (n.133-13G>C)
n.325-13G>C
n.479-13G>C
c.-27-13G>C (n.-27-13G>C)
n.200-13G>C
 gnomAD v4
16g.21709875G>TCA2558229358OTOAc.1105-13G>T (n.1105-13G>T)
c.981-13G>T (n.981-13G>T)
c.1147-13G>T (n.1147-13G>T)
c.868-13G>T (n.868-13G>T)
c.133-13G>T (n.133-13G>T)
n.325-13G>T
n.479-13G>T
c.-27-13G>T (n.-27-13G>T)
n.200-13G>T
16g.21709876delCA395061891OTOAc.1105-12del (n.1105-12del)
c.981-12del (n.981-12del)
c.1147-12del (n.1147-12del)
c.868-12del (n.868-12del)
c.133-12del (n.133-12del)
n.325-12del
n.479-12del
c.-27-12del (n.-27-12del)
n.200-12del
16g.21709876C>TCA2632220213OTOAc.1105-12C>T (n.1105-12C>T)
c.981-12C>T (n.981-12C>T)
c.1147-12C>T (n.1147-12C>T)
c.868-12C>T (n.868-12C>T)
c.133-12C>T (n.133-12C>T)
n.325-12C>T
n.479-12C>T
c.-27-12C>T (n.-27-12C>T)
n.200-12C>T
 gnomAD v4
16g.21709878C=CA2212563264OTOAc.1105-10C= (n.1105-10C=)
c.981-10C= (n.981-10C=)
c.1147-10C= (n.1147-10C=)
c.868-10C= (n.868-10C=)
c.133-10C= (n.133-10C=)
n.325-10C=
n.479-10C=
c.-27-10C= (n.-27-10C=)
n.200-10C=
16g.21709878C>GCA279403706OTOAc.1105-10C>G (n.1105-10C>G)
c.981-10C>G (n.981-10C>G)
c.1147-10C>G (n.1147-10C>G)
c.868-10C>G (n.868-10C>G)
c.133-10C>G (n.133-10C>G)
n.325-10C>G
n.479-10C>G
c.-27-10C>G (n.-27-10C>G)
n.200-10C>G
 dbSNP gnomAD v3 gnomAD v4
16g.21709878C>TCA177529OTOAc.1105-10C>T (n.1105-10C>T)
c.981-10C>T (n.981-10C>T)
c.1147-10C>T (n.1147-10C>T)
c.868-10C>T (n.868-10C>T)
c.133-10C>T (n.133-10C>T)
n.325-10C>T
n.479-10C>T
c.-27-10C>T (n.-27-10C>T)
n.200-10C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.21709880C>TCA2632220214OTOAc.1105-8C>T (n.1105-8C>T)
c.981-8C>T (n.981-8C>T)
c.1147-8C>T (n.1147-8C>T)
c.868-8C>T (n.868-8C>T)
c.133-8C>T (n.133-8C>T)
n.325-8C>T
n.479-8C>T
c.-27-8C>T (n.-27-8C>T)
n.200-8C>T
 gnomAD v4
16g.21709881C>TCA2697555696OTOAc.1105-7C>T (n.1105-7C>T)
c.981-7C>T (n.981-7C>T)
c.1147-7C>T (n.1147-7C>T)
c.868-7C>T (n.868-7C>T)
c.133-7C>T (n.133-7C>T)
n.325-7C>T
n.479-7C>T
c.-27-7C>T (n.-27-7C>T)
n.200-7C>T
 ClinVar
16g.21709883T>CCA2806211949OTOAc.1105-5T>C (n.1105-5T>C)
c.981-5T>C (n.981-5T>C)
c.1147-5T>C (n.1147-5T>C)
c.868-5T>C (n.868-5T>C)
c.133-5T>C (n.133-5T>C)
n.325-5T>C
n.479-5T>C
c.-27-5T>C (n.-27-5T>C)
n.200-5T>C
16g.21709884C>TCA2739266654OTOAc.1105-4C>T (n.1105-4C>T)
c.981-4C>T (n.981-4C>T)
c.1147-4C>T (n.1147-4C>T)
c.868-4C>T (n.868-4C>T)
c.133-4C>T (n.133-4C>T)
n.325-4C>T
n.479-4C>T
c.-27-4C>T (n.-27-4C>T)
n.200-4C>T
 ClinVar
16g.21709886A>CCA395061892OTOAc.1105-2A>C (n.1105-2A>C)
c.981-2A>C (n.981-2A>C)
c.1147-2A>C (n.1147-2A>C)
c.868-2A>C (n.868-2A>C)
c.133-2A>C (n.133-2A>C)
n.325-2A>C
n.479-2A>C
c.-27-2A>C (n.-27-2A>C)
n.200-2A>C
16g.21709886A>GCA395061894OTOAc.1105-2A>G (n.1105-2A>G)
c.981-2A>G (n.981-2A>G)
c.1147-2A>G (n.1147-2A>G)
c.868-2A>G (n.868-2A>G)
c.133-2A>G (n.133-2A>G)
n.325-2A>G
n.479-2A>G
c.-27-2A>G (n.-27-2A>G)
n.200-2A>G
16g.21709886A>TCA395061893OTOAc.1105-2A>T (n.1105-2A>T)
c.981-2A>T (n.981-2A>T)
c.1147-2A>T (n.1147-2A>T)
c.868-2A>T (n.868-2A>T)
c.133-2A>T (n.133-2A>T)
n.325-2A>T
n.479-2A>T
c.-27-2A>T (n.-27-2A>T)
n.200-2A>T
16g.21709887G>ACA7952550OTOAc.1105-1G>A (n.1105-1G>A)
c.981-1G>A (n.981-1G>A)
c.1147-1G>A (n.1147-1G>A)
c.868-1G>A (n.868-1G>A)
c.133-1G>A (n.133-1G>A)
n.325-1G>A
n.479-1G>A
c.-27-1G>A (n.-27-1G>A)
n.200-1G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.21709887G>CCA395061900OTOAc.1105-1G>C (n.1105-1G>C)
c.981-1G>C (n.981-1G>C)
c.1147-1G>C (n.1147-1G>C)
c.868-1G>C (n.868-1G>C)
c.133-1G>C (n.133-1G>C)
n.325-1G>C
n.479-1G>C
c.-27-1G>C (n.-27-1G>C)
n.200-1G>C
16g.21709887G=CA2212563271OTOAc.1105-1G= (n.1105-1G=)
c.981-1G= (n.981-1G=)
c.1147-1G= (n.1147-1G=)
c.868-1G= (n.868-1G=)
c.133-1G= (n.133-1G=)
n.325-1G=
n.479-1G=
c.-27-1G= (n.-27-1G=)
n.200-1G=
16g.21709887G>TCA395061898OTOAc.1105-1G>T (n.1105-1G>T)
c.981-1G>T (n.981-1G>T)
c.1147-1G>T (n.1147-1G>T)
c.868-1G>T (n.868-1G>T)
c.133-1G>T (n.133-1G>T)
n.325-1G>T
n.479-1G>T
c.-27-1G>T (n.-27-1G>T)
n.200-1G>T
16g.21709888C>ACA395061903OTOAc.1105C>A (p.Leu369Ile)
c.981C>A (p.Ser327Arg)
c.1147C>A (p.Leu383Ile)
c.868C>A (p.Leu290Ile)
c.133C>A (p.Leu45Ile)
n.325C>A
n.479C>A
c.-27C>A (n.-27C>A)
n.200C>A
16g.21709888C>GCA395061904OTOAc.1105C>G (p.Leu369Val)
c.981C>G (p.Ser327Arg)
c.1147C>G (p.Leu383Val)
c.868C>G (p.Leu290Val)
c.133C>G (p.Leu45Val)
n.325C>G
n.479C>G
c.-27C>G (n.-27C>G)
n.200C>G
16g.21709888C>TCA395061906OTOAc.1105C>T (p.Leu369Phe)
c.981C>T (p.Ser327=)
c.1147C>T (p.Leu383Phe)
c.868C>T (p.Leu290Phe)
c.133C>T (p.Leu45Phe)
n.325C>T
n.479C>T
c.-27C>T (n.-27C>T)
n.200C>T
16g.21709889T>ACA395061909OTOAc.1106T>A (p.Leu369His)
c.982T>A (p.Ser328Thr)
c.1148T>A (p.Leu383His)
c.869T>A (p.Leu290His)
c.134T>A (p.Leu45His)
n.326T>A
n.480T>A
c.-26T>A (n.-26T>A)
n.201T>A
16g.21709889T>CCA395061911OTOAc.1106T>C (p.Leu369Pro)
c.982T>C (p.Ser328Pro)
c.1148T>C (p.Leu383Pro)
c.869T>C (p.Leu290Pro)
c.134T>C (p.Leu45Pro)
n.326T>C
n.480T>C
c.-26T>C (n.-26T>C)
n.201T>C
16g.21709889T>GCA395061913OTOAc.1106T>G (p.Leu369Arg)
c.982T>G (p.Ser328Ala)
c.1148T>G (p.Leu383Arg)
c.869T>G (p.Leu290Arg)
c.134T>G (p.Leu45Arg)
n.326T>G
n.480T>G
c.-26T>G (n.-26T>G)
n.201T>G
16g.21709890C>ACA494117443OTOAc.1107C>A (p.Leu369=)
c.983C>A (p.Ser328Ter)
c.1149C>A (p.Leu383=)
c.870C>A (p.Leu290=)
c.135C>A (p.Leu45=)
n.327C>A
n.481C>A
c.-25C>A (n.-25C>A)
n.202C>A
16g.21709890C=CA2212563278OTOAc.1107C= (p.Leu369=)
c.983C= (p.Ser328=)
c.1149C= (p.Leu383=)
c.870C= (p.Leu290=)
c.135C= (p.Leu45=)
n.327C=
n.481C=
c.-25C= (n.-25C=)
n.202C=
16g.21709890C>GCA494117444OTOAc.1107C>G (p.Leu369=)
c.983C>G (p.Ser328Ter)
c.1149C>G (p.Leu383=)
c.870C>G (p.Leu290=)
c.135C>G (p.Leu45=)
n.327C>G
n.481C>G
c.-25C>G (n.-25C>G)
n.202C>G
 dbSNP gnomAD v4
16g.21709890C>TCA494117445OTOAc.1107C>T (p.Leu369=)
c.983C>T (p.Ser328Leu)
c.1149C>T (p.Leu383=)
c.870C>T (p.Leu290=)
c.135C>T (p.Leu45=)
n.327C>T
n.481C>T
c.-25C>T (n.-25C>T)
n.202C>T
 ClinVar gnomAD v4
16g.21709891A>CCA395061916OTOAc.1108A>C (p.Lys370Gln)
c.984A>C (p.Ser328=)
c.1150A>C (p.Lys384Gln)
c.871A>C (p.Lys291Gln)
c.136A>C (p.Lys46Gln)
n.328A>C
n.482A>C
c.-24A>C (n.-24A>C)
n.203A>C
16g.21709891A>GCA395061917OTOAc.1108A>G (p.Lys370Glu)
c.984A>G (p.Ser328=)
c.1150A>G (p.Lys384Glu)
c.871A>G (p.Lys291Glu)
c.136A>G (p.Lys46Glu)
n.328A>G
n.482A>G
c.-24A>G (n.-24A>G)
n.203A>G
16g.21709891A>TCA395061918OTOAc.1108A>T (p.Lys370Ter)
c.984A>T (p.Ser328=)
c.1150A>T (p.Lys384Ter)
c.871A>T (p.Lys291Ter)
c.136A>T (p.Lys46Ter)
n.328A>T
n.482A>T
c.-24A>T (n.-24A>T)
n.203A>T
16g.21709892A=CA2212563284OTOAc.1109A= (p.Lys370=)
c.985A= (p.Lys329=)
c.1151A= (p.Lys384=)
c.872A= (p.Lys291=)
c.137A= (p.Lys46=)
n.329A=
n.483A=
c.-23A= (n.-23A=)
n.204A=
16g.21709892A>CCA395061921OTOAc.1109A>C (p.Lys370Thr)
c.985A>C (p.Lys329Gln)
c.1151A>C (p.Lys384Thr)
c.872A>C (p.Lys291Thr)
c.137A>C (p.Lys46Thr)
n.329A>C
n.483A>C
c.-23A>C (n.-23A>C)
n.204A>C
16g.21709892A>GCA185832OTOAc.1109A>G (p.Lys370Arg)
c.985A>G (p.Lys329Glu)
c.1151A>G (p.Lys384Arg)
c.872A>G (p.Lys291Arg)
c.137A>G (p.Lys46Arg)
n.329A>G
n.483A>G
c.-23A>G (n.-23A>G)
n.204A>G
 ClinVar dbSNP gnomAD v4
16g.21709892A>TCA395061923OTOAc.1109A>T (p.Lys370Ile)
c.985A>T (p.Lys329Ter)
c.1151A>T (p.Lys384Ile)
c.872A>T (p.Lys291Ile)
c.137A>T (p.Lys46Ile)
n.329A>T
n.483A>T
c.-23A>T (n.-23A>T)
n.204A>T
16g.21709893A>CCA395061928OTOAc.1110A>C (p.Lys370Asn)
c.986A>C (p.Lys329Thr)
c.1152A>C (p.Lys384Asn)
c.873A>C (p.Lys291Asn)
c.138A>C (p.Lys46Asn)
n.330A>C
n.484A>C
c.-22A>C (n.-22A>C)
n.205A>C
16g.21709893A>GCA494117449OTOAc.1110A>G (p.Lys370=)
c.986A>G (p.Lys329Arg)
c.1152A>G (p.Lys384=)
c.873A>G (p.Lys291=)
c.138A>G (p.Lys46=)
n.330A>G
n.484A>G
c.-22A>G (n.-22A>G)
n.205A>G
16g.21709893A>TCA395061926OTOAc.1110A>T (p.Lys370Asn)
c.986A>T (p.Lys329Met)
c.1152A>T (p.Lys384Asn)
c.873A>T (p.Lys291Asn)
c.138A>T (p.Lys46Asn)
n.330A>T
n.484A>T
c.-22A>T (n.-22A>T)
n.205A>T
16g.21709894G>ACA395061931OTOAc.1111G>A (p.Ala371Thr)
c.987G>A (p.Lys329=)
c.1153G>A (p.Ala385Thr)
c.874G>A (p.Ala292Thr)
c.139G>A (p.Ala47Thr)
n.331G>A
n.485G>A
c.-21G>A (n.-21G>A)
n.206G>A
16g.21709894G>CCA395061933OTOAc.1111G>C (p.Ala371Pro)
c.987G>C (p.Lys329Asn)
c.1153G>C (p.Ala385Pro)
c.874G>C (p.Ala292Pro)
c.139G>C (p.Ala47Pro)
n.331G>C
n.485G>C
c.-21G>C (n.-21G>C)
n.206G>C
16g.21709894G>TCA395061935OTOAc.1111G>T (p.Ala371Ser)
c.987G>T (p.Lys329Asn)
c.1153G>T (p.Ala385Ser)
c.874G>T (p.Ala292Ser)
c.139G>T (p.Ala47Ser)
n.331G>T
n.485G>T
c.-21G>T (n.-21G>T)
n.206G>T
16g.21709895C>ACA395061938OTOAc.1112C>A (p.Ala371Glu)
c.988C>A (p.Gln330Lys)
c.1154C>A (p.Ala385Glu)
c.875C>A (p.Ala292Glu)
c.140C>A (p.Ala47Glu)
n.332C>A
n.486C>A
c.-20C>A (n.-20C>A)
n.207C>A
16g.21709895C=CA2212563289OTOAc.1112C= (p.Ala371=)
c.988C= (p.Gln330=)
c.1154C= (p.Ala385=)
c.875C= (p.Ala292=)
c.140C= (p.Ala47=)
n.332C=
n.486C=
c.-20C= (n.-20C=)
n.207C=
16g.21709895C>GCA395061940OTOAc.1112C>G (p.Ala371Gly)
c.988C>G (p.Gln330Glu)
c.1154C>G (p.Ala385Gly)
c.875C>G (p.Ala292Gly)
c.140C>G (p.Ala47Gly)
n.332C>G
n.486C>G
c.-20C>G (n.-20C>G)
n.207C>G
 dbSNP gnomAD v3 gnomAD v4
16g.21709895C>TCA395061942OTOAc.1112C>T (p.Ala371Val)
c.988C>T (p.Gln330Ter)
c.1154C>T (p.Ala385Val)
c.875C>T (p.Ala292Val)
c.140C>T (p.Ala47Val)
n.332C>T
n.486C>T
c.-20C>T (n.-20C>T)
n.207C>T
16g.21709896A>CCA494117453OTOAc.1113A>C (p.Ala371=)
c.989A>C (p.Gln330Pro)
c.1155A>C (p.Ala385=)
c.876A>C (p.Ala292=)
c.141A>C (p.Ala47=)
n.333A>C
n.487A>C
c.-19A>C (n.-19A>C)
n.208A>C
16g.21709896A>GCA494117454OTOAc.1113A>G (p.Ala371=)
c.989A>G (p.Gln330Arg)
c.1155A>G (p.Ala385=)
c.876A>G (p.Ala292=)
c.141A>G (p.Ala47=)
n.333A>G
n.487A>G
c.-19A>G (n.-19A>G)
n.208A>G
16g.21709896A>TCA494117455OTOAc.1113A>T (p.Ala371=)
c.989A>T (p.Gln330Leu)
c.1155A>T (p.Ala385=)
c.876A>T (p.Ala292=)
c.141A>T (p.Ala47=)
n.333A>T
n.487A>T
c.-19A>T (n.-19A>T)
n.208A>T
16g.21709897G>ACA395061949OTOAc.1114G>A (p.Glu372Lys)
c.990G>A (p.Gln330=)
c.1156G>A (p.Glu386Lys)
c.877G>A (p.Glu293Lys)
c.142G>A (p.Glu48Lys)
n.334G>A
n.488G>A
c.-18G>A (n.-18G>A)
n.209G>A
16g.21709897G>CCA395061945OTOAc.1114G>C (p.Glu372Gln)
c.990G>C (p.Gln330His)
c.1156G>C (p.Glu386Gln)
c.877G>C (p.Glu293Gln)
c.142G>C (p.Glu48Gln)
n.334G>C
n.488G>C
c.-18G>C (n.-18G>C)
n.209G>C
 gnomAD v4
16g.21709897G>TCA395061947OTOAc.1114G>T (p.Glu372Ter)
c.990G>T (p.Gln330His)
c.1156G>T (p.Glu386Ter)
c.877G>T (p.Glu293Ter)
c.142G>T (p.Glu48Ter)
n.334G>T
n.488G>T
c.-18G>T (n.-18G>T)
n.209G>T
16g.21709898A>CCA395061951OTOAc.1115A>C (p.Glu372Ala)
c.991A>C (p.Asn331His)
c.1157A>C (p.Glu386Ala)
c.878A>C (p.Glu293Ala)
c.143A>C (p.Glu48Ala)
n.335A>C
n.489A>C
c.-17A>C (n.-17A>C)
n.210A>C
16g.21709898A>GCA395061953OTOAc.1115A>G (p.Glu372Gly)
c.991A>G (p.Asn331Asp)
c.1157A>G (p.Glu386Gly)
c.878A>G (p.Glu293Gly)
c.143A>G (p.Glu48Gly)
n.335A>G
n.489A>G
c.-17A>G (n.-17A>G)
n.210A>G
 gnomAD v4
16g.21709898A>TCA395061956OTOAc.1115A>T (p.Glu372Val)
c.991A>T (p.Asn331Tyr)
c.1157A>T (p.Glu386Val)
c.878A>T (p.Glu293Val)
c.143A>T (p.Glu48Val)
n.335A>T
n.489A>T
c.-17A>T (n.-17A>T)
n.210A>T
16g.21709899A=CA2212563294OTOAc.1116A= (p.Glu372=)
c.992A= (p.Asn331=)
c.1158A= (p.Glu386=)
c.879A= (p.Glu293=)
c.144A= (p.Glu48=)
n.336A=
n.490A=
c.-16A= (n.-16A=)
n.211A=
16g.21709899A>CCA395061958OTOAc.1116A>C (p.Glu372Asp)
c.992A>C (p.Asn331Thr)
c.1158A>C (p.Glu386Asp)
c.879A>C (p.Glu293Asp)
c.144A>C (p.Glu48Asp)
n.336A>C
n.490A>C
c.-16A>C (n.-16A>C)
n.211A>C
16g.21709899A>GCA494117458OTOAc.1116A>G (p.Glu372=)
c.992A>G (p.Asn331Ser)
c.1158A>G (p.Glu386=)
c.879A>G (p.Glu293=)
c.144A>G (p.Glu48=)
n.336A>G
n.490A>G
c.-16A>G (n.-16A>G)
n.211A>G
 dbSNP
16g.21709899A>TCA395061960OTOAc.1116A>T (p.Glu372Asp)
c.992A>T (p.Asn331Ile)
c.1158A>T (p.Glu386Asp)
c.879A>T (p.Glu293Asp)
c.144A>T (p.Glu48Asp)
n.336A>T
n.490A>T
c.-16A>T (n.-16A>T)
n.211A>T
16g.21709900C>ACA395061964OTOAc.1117C>A (p.Leu373Ile)
c.993C>A (p.Asn331Lys)
c.1159C>A (p.Leu387Ile)
c.880C>A (p.Leu294Ile)
c.145C>A (p.Leu49Ile)
n.337C>A
n.491C>A
c.-15C>A (n.-15C>A)
n.212C>A
16g.21709900C>GCA395061968OTOAc.1117C>G (p.Leu373Val)
c.993C>G (p.Asn331Lys)
c.1159C>G (p.Leu387Val)
c.880C>G (p.Leu294Val)
c.145C>G (p.Leu49Val)
n.337C>G
n.491C>G
c.-15C>G (n.-15C>G)
n.212C>G
16g.21709900C>TCA395061966OTOAc.1117C>T (p.Leu373Phe)
c.993C>T (p.Asn331=)
c.1159C>T (p.Leu387Phe)
c.880C>T (p.Leu294Phe)
c.145C>T (p.Leu49Phe)
n.337C>T
n.491C>T
c.-15C>T (n.-15C>T)
n.212C>T
16g.21709902_21709904delCA2632220215OTOAc.1119_1121del (p.Leu374del)
c.995_997del (p.Ser332del)
c.1161_1163del (p.Leu388del)
c.882_884del (p.Leu295del)
c.147_149del (p.Leu50del)
n.339_341del
n.493_495del
c.-13_-11del (n.-13_-11del)
n.214_216del
 gnomAD v4
16g.21709901T>ACA395061971OTOAc.1118T>A (p.Leu373His)
c.994T>A (p.Ser332Thr)
c.1160T>A (p.Leu387His)
c.881T>A (p.Leu294His)
c.146T>A (p.Leu49His)
n.338T>A
n.492T>A
c.-14T>A (n.-14T>A)
n.213T>A
16g.21709901T>CCA395061973OTOAc.1118T>C (p.Leu373Pro)
c.994T>C (p.Ser332Pro)
c.1160T>C (p.Leu387Pro)
c.881T>C (p.Leu294Pro)
c.146T>C (p.Leu49Pro)
n.338T>C
n.492T>C
c.-14T>C (n.-14T>C)
n.213T>C
 dbSNP
16g.21709901T>GCA395061975OTOAc.1118T>G (p.Leu373Arg)
c.994T>G (p.Ser332Ala)
c.1160T>G (p.Leu387Arg)
c.881T>G (p.Leu294Arg)
c.146T>G (p.Leu49Arg)
n.338T>G
n.492T>G
c.-14T>G (n.-14T>G)
n.213T>G
16g.21709902C>ACA494117460OTOAc.1119C>A (p.Leu373=)
c.995C>A (p.Ser332Tyr)
c.1161C>A (p.Leu387=)
c.882C>A (p.Leu294=)
c.147C>A (p.Leu49=)
n.339C>A
n.493C>A
c.-13C>A (n.-13C>A)
n.214C>A
16g.21709902C=CA2212563297OTOAc.1119C= (p.Leu373=)
c.995C= (p.Ser332=)
c.1161C= (p.Leu387=)
c.882C= (p.Leu294=)
c.147C= (p.Leu49=)
n.339C=
n.493C=
c.-13C= (n.-13C=)
n.214C=
16g.21709902C>GCA7952551OTOAc.1119C>G (p.Leu373=)
c.995C>G (p.Ser332Cys)
c.1161C>G (p.Leu387=)
c.882C>G (p.Leu294=)
c.147C>G (p.Leu49=)
n.339C>G
n.493C>G
c.-13C>G (n.-13C>G)
n.214C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.21709902C>TCA7952552OTOAc.1119C>T (p.Leu373=)
c.995C>T (p.Ser332Phe)
c.1161C>T (p.Leu387=)
c.882C>T (p.Leu294=)
c.147C>T (p.Leu49=)
n.339C>T
n.493C>T
c.-13C>T (n.-13C>T)
n.214C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.21709903C>ACA395061980OTOAc.1120C>A (p.Leu374Met)
c.996C>A (p.Ser332=)
c.1162C>A (p.Leu388Met)
c.883C>A (p.Leu295Met)
c.148C>A (p.Leu50Met)
n.340C>A
n.494C>A
c.-12C>A (n.-12C>A)
n.215C>A
16g.21709903C>GCA395061982OTOAc.1120C>G (p.Leu374Val)
c.996C>G (p.Ser332=)
c.1162C>G (p.Leu388Val)
c.883C>G (p.Leu295Val)
c.148C>G (p.Leu50Val)
n.340C>G
n.494C>G
c.-12C>G (n.-12C>G)
n.215C>G
16g.21709903C>TCA494117462OTOAc.1120C>T (p.Leu374=)
c.996C>T (p.Ser332=)
c.1162C>T (p.Leu388=)
c.883C>T (p.Leu295=)
c.148C>T (p.Leu50=)
n.340C>T
n.494C>T
c.-12C>T (n.-12C>T)
n.215C>T
 gnomAD v4
16g.21709904T>ACA395061984OTOAc.1121T>A (p.Leu374Gln)
c.997T>A (p.Trp333Arg)
c.1163T>A (p.Leu388Gln)
c.884T>A (p.Leu295Gln)
c.149T>A (p.Leu50Gln)
n.341T>A
n.495T>A
c.-11T>A (n.-11T>A)
n.216T>A
16g.21709904T>CCA395061986OTOAc.1121T>C (p.Leu374Pro)
c.997T>C (p.Trp333Arg)
c.1163T>C (p.Leu388Pro)
c.884T>C (p.Leu295Pro)
c.149T>C (p.Leu50Pro)
n.341T>C
n.495T>C
c.-11T>C (n.-11T>C)
n.216T>C
 gnomAD v4
16g.21709904T>GCA395061987OTOAc.1121T>G (p.Leu374Arg)
c.997T>G (p.Trp333Gly)
c.1163T>G (p.Leu388Arg)
c.884T>G (p.Leu295Arg)
c.149T>G (p.Leu50Arg)
n.341T>G
n.495T>G
c.-11T>G (n.-11T>G)
n.216T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.21709904T=CA2212563305OTOAc.1121T= (p.Leu374=)
c.997T= (p.Trp333=)
c.1163T= (p.Leu388=)
c.884T= (p.Leu295=)
c.149T= (p.Leu50=)
n.341T=
n.495T=
c.-11T= (n.-11T=)
n.216T=
16g.21709905G>ACA494117464OTOAc.1122G>A (p.Leu374=)
c.998G>A (p.Trp333Ter)
c.1164G>A (p.Leu388=)
c.885G>A (p.Leu295=)
c.150G>A (p.Leu50=)
n.342G>A
n.496G>A
c.-10G>A (n.-10G>A)
n.217G>A
16g.21709905G>CCA494117465OTOAc.1122G>C (p.Leu374=)
c.998G>C (p.Trp333Ser)
c.1164G>C (p.Leu388=)
c.885G>C (p.Leu295=)
c.150G>C (p.Leu50=)
n.342G>C
n.496G>C
c.-10G>C (n.-10G>C)
n.217G>C
 dbSNP gnomAD v2 gnomAD v4
16g.21709905G=CA2212563307OTOAc.1122G= (p.Leu374=)
c.998G= (p.Trp333=)
c.1164G= (p.Leu388=)
c.885G= (p.Leu295=)
c.150G= (p.Leu50=)
n.342G=
n.496G=
c.-10G= (n.-10G=)
n.217G=
16g.21709905G>TCA494117466OTOAc.1122G>T (p.Leu374=)
c.998G>T (p.Trp333Leu)
c.1164G>T (p.Leu388=)
c.885G>T (p.Leu295=)
c.150G>T (p.Leu50=)
n.342G>T
n.496G>T
c.-10G>T (n.-10G>T)
n.217G>T
16g.21709906G>ACA395061991OTOAc.1123G>A (p.Asp375Asn)
c.999G>A (p.Trp333Ter)
c.1165G>A (p.Asp389Asn)
c.886G>A (p.Asp296Asn)
c.151G>A (p.Asp51Asn)
n.343G>A
n.497G>A
c.-9G>A (n.-9G>A)
n.218G>A
16g.21709906G>CCA395061992OTOAc.1123G>C (p.Asp375His)
c.999G>C (p.Trp333Cys)
c.1165G>C (p.Asp389His)
c.886G>C (p.Asp296His)
c.151G>C (p.Asp51His)
n.343G>C
n.497G>C
c.-9G>C (n.-9G>C)
n.218G>C
 dbSNP gnomAD v4
16g.21709906G=CA2212563310OTOAc.1123G= (p.Asp375=)
c.999G= (p.Trp333=)
c.1165G= (p.Asp389=)
c.886G= (p.Asp296=)
c.151G= (p.Asp51=)
n.343G=
n.497G=
c.-9G= (n.-9G=)
n.218G=
16g.21709906G>TCA395061994OTOAc.1123G>T (p.Asp375Tyr)
c.999G>T (p.Trp333Cys)
c.1165G>T (p.Asp389Tyr)
c.886G>T (p.Asp296Tyr)
c.151G>T (p.Asp51Tyr)
n.343G>T
n.497G>T
c.-9G>T (n.-9G>T)
n.218G>T
16g.21709907A=CA2212563314OTOAc.1124A= (p.Asp375=)
c.1000A= (p.Thr334=)
c.1166A= (p.Asp389=)
c.887A= (p.Asp296=)
c.152A= (p.Asp51=)
n.344A=
n.498A=
c.-8A= (n.-8A=)
n.219A=
16g.21709907A>CCA395062000OTOAc.1124A>C (p.Asp375Ala)
c.1000A>C (p.Thr334Pro)
c.1166A>C (p.Asp389Ala)
c.887A>C (p.Asp296Ala)
c.152A>C (p.Asp51Ala)
n.344A>C
n.498A>C
c.-8A>C (n.-8A>C)
n.219A>C
16g.21709907A>GCA395061997OTOAc.1124A>G (p.Asp375Gly)
c.1000A>G (p.Thr334Ala)
c.1166A>G (p.Asp389Gly)
c.887A>G (p.Asp296Gly)
c.152A>G (p.Asp51Gly)
n.344A>G
n.498A>G
c.-8A>G (n.-8A>G)
n.219A>G
16g.21709907A>TCA395061998OTOAc.1124A>T (p.Asp375Val)
c.1000A>T (p.Thr334Ser)
c.1166A>T (p.Asp389Val)
c.887A>T (p.Asp296Val)
c.152A>T (p.Asp51Val)
n.344A>T
n.498A>T
c.-8A>T (n.-8A>T)
n.219A>T
16g.21709908C>ACA395062004OTOAc.1125C>A (p.Asp375Glu)
c.1001C>A (p.Thr334Lys)
c.1167C>A (p.Asp389Glu)
c.888C>A (p.Asp296Glu)
c.153C>A (p.Asp51Glu)
n.345C>A
n.499C>A
c.-7C>A (n.-7C>A)
n.220C>A
16g.21709908C=CA2212563319OTOAc.1125C= (p.Asp375=)
c.1001C= (p.Thr334=)
c.1167C= (p.Asp389=)
c.888C= (p.Asp296=)
c.153C= (p.Asp51=)
n.345C=
n.499C=
c.-7C= (n.-7C=)
n.220C=
16g.21709908C>GCA395062006OTOAc.1125C>G (p.Asp375Glu)
c.1001C>G (p.Thr334Arg)
c.1167C>G (p.Asp389Glu)
c.888C>G (p.Asp296Glu)
c.153C>G (p.Asp51Glu)
n.345C>G
n.499C>G
c.-7C>G (n.-7C>G)
n.220C>G
16g.21709908C>TCA7952554OTOAc.1125C>T (p.Asp375=)
c.1001C>T (p.Thr334Ile)
c.1167C>T (p.Asp389=)
c.888C>T (p.Asp296=)
c.153C>T (p.Asp51=)
n.345C>T
n.499C>T
c.-7C>T (n.-7C>T)
n.220C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.21709909_21709913dupCA7952553OTOAc.1126_1130dup (p.Met378LeufsTer20)
c.1002_1006dup (p.Pro336HisfsTer10)
c.1168_1172dup (p.Met392LeufsTer20)
c.889_893dup (p.Met299LeufsTer20)
c.154_158dup (p.Met54LeufsTer20)
n.346_350dup
n.500_504dup
c.-6_-2dup (n.-6_-2dup)
n.221_225dup
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.21709909A=CA2212563325OTOAc.1126A= (p.Ile376=)
c.1002A= (p.Thr334=)
c.1168A= (p.Ile390=)
c.889A= (p.Ile297=)
c.154A= (p.Ile52=)
n.346A=
n.500A=
c.-6A= (n.-6A=)
n.221A=
16g.21709909A>CCA395062008OTOAc.1126A>C (p.Ile376Leu)
c.1002A>C (p.Thr334=)
c.1168A>C (p.Ile390Leu)
c.889A>C (p.Ile297Leu)
c.154A>C (p.Ile52Leu)
n.346A>C
n.500A>C
c.-6A>C (n.-6A>C)
n.221A>C
16g.21709909A>GCA7952555OTOAc.1126A>G (p.Ile376Val)
c.1002A>G (p.Thr334=)
c.1168A>G (p.Ile390Val)
c.889A>G (p.Ile297Val)
c.154A>G (p.Ile52Val)
n.346A>G
n.500A>G
c.-6A>G (n.-6A>G)
n.221A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.21709909A>TCA395062012OTOAc.1126A>T (p.Ile376Phe)
c.1002A>T (p.Thr334=)
c.1168A>T (p.Ile390Phe)
c.889A>T (p.Ile297Phe)
c.154A>T (p.Ile52Phe)
n.346A>T
n.500A>T
c.-6A>T (n.-6A>T)
n.221A>T
16g.21709910T>ACA395062015OTOAc.1127T>A (p.Ile376Asn)
c.1003T>A (p.Leu335Met)
c.1169T>A (p.Ile390Asn)
c.890T>A (p.Ile297Asn)
c.155T>A (p.Ile52Asn)
n.347T>A
n.501T>A
c.-5T>A (n.-5T>A)
n.222T>A
16g.21709910T>CCA395062017OTOAc.1127T>C (p.Ile376Thr)
c.1003T>C (p.Leu335=)
c.1169T>C (p.Ile390Thr)
c.890T>C (p.Ile297Thr)
c.155T>C (p.Ile52Thr)
n.347T>C
n.501T>C
c.-5T>C (n.-5T>C)
n.222T>C
 dbSNP gnomAD v2 gnomAD v4
16g.21709910T>GCA395062019OTOAc.1127T>G (p.Ile376Ser)
c.1003T>G (p.Leu335Val)
c.1169T>G (p.Ile390Ser)
c.890T>G (p.Ile297Ser)
c.155T>G (p.Ile52Ser)
n.347T>G
n.501T>G
c.-5T>G (n.-5T>G)
n.222T>G
16g.21709910T=CA2212563328OTOAc.1127T= (p.Ile376=)
c.1003T= (p.Leu335=)
c.1169T= (p.Ile390=)
c.890T= (p.Ile297=)
c.155T= (p.Ile52=)
n.347T=
n.501T=
c.-5T= (n.-5T=)
n.222T=
16g.21709911T>ACA494117472OTOAc.1128T>A (p.Ile376=)
c.1004T>A (p.Leu335Ter)
c.1170T>A (p.Ile390=)
c.891T>A (p.Ile297=)
c.156T>A (p.Ile52=)
n.348T>A
n.502T>A
c.-4T>A (n.-4T>A)
n.223T>A
16g.21709911T>CCA494117474OTOAc.1128T>C (p.Ile376=)
c.1004T>C (p.Leu335Ser)
c.1170T>C (p.Ile390=)
c.891T>C (p.Ile297=)
c.156T>C (p.Ile52=)
n.348T>C
n.502T>C
c.-4T>C (n.-4T>C)
n.223T>C
16g.21709911T>GCA395062022OTOAc.1128T>G (p.Ile376Met)
c.1004T>G (p.Leu335Trp)
c.1170T>G (p.Ile390Met)
c.891T>G (p.Ile297Met)
c.156T>G (p.Ile52Met)
n.348T>G
n.502T>G
c.-4T>G (n.-4T>G)
n.223T>G
16g.21709912G>ACA395062025OTOAc.1129G>A (p.Ala377Thr)
c.1005G>A (p.Leu335=)
c.1171G>A (p.Ala391Thr)
c.892G>A (p.Ala298Thr)
c.157G>A (p.Ala53Thr)
n.349G>A
n.503G>A
c.-3G>A (n.-3G>A)
n.224G>A
16g.21709912G>CCA395062030OTOAc.1129G>C (p.Ala377Pro)
c.1005G>C (p.Leu335Phe)
c.1171G>C (p.Ala391Pro)
c.892G>C (p.Ala298Pro)
c.157G>C (p.Ala53Pro)
n.349G>C
n.503G>C
c.-3G>C (n.-3G>C)
n.224G>C
16g.21709912G=CA2212563333OTOAc.1129G= (p.Ala377=)
c.1005G= (p.Leu335=)
c.1171G= (p.Ala391=)
c.892G= (p.Ala298=)
c.157G= (p.Ala53=)
n.349G=
n.503G=
c.-3G= (n.-3G=)
n.224G=
16g.21709912G>TCA395062028OTOAc.1129G>T (p.Ala377Ser)
c.1005G>T (p.Leu335Phe)
c.1171G>T (p.Ala391Ser)
c.892G>T (p.Ala298Ser)
c.157G>T (p.Ala53Ser)
n.349G>T
n.503G>T
c.-3G>T (n.-3G>T)
n.224G>T
 dbSNP
16g.21709913C>ACA395062032OTOAc.1130C>A (p.Ala377Asp)
c.1006C>A (p.Pro336Thr)
c.1172C>A (p.Ala391Asp)
c.893C>A (p.Ala298Asp)
c.158C>A (p.Ala53Asp)
n.350C>A
n.504C>A
c.-2C>A (n.-2C>A)
n.225C>A
16g.21709913C=CA2212563336OTOAc.1130C= (p.Ala377=)
c.1006C= (p.Pro336=)
c.1172C= (p.Ala391=)
c.893C= (p.Ala298=)
c.158C= (p.Ala53=)
n.350C=
n.504C=
c.-2C= (n.-2C=)
n.225C=
16g.21709913C>GCA395062033OTOAc.1130C>G (p.Ala377Gly)
c.1006C>G (p.Pro336Ala)
c.1172C>G (p.Ala391Gly)
c.893C>G (p.Ala298Gly)
c.158C>G (p.Ala53Gly)
n.350C>G
n.504C>G
c.-2C>G (n.-2C>G)
n.225C>G
16g.21709913C>TCA7952556OTOAc.1130C>T (p.Ala377Val)
c.1006C>T (p.Pro336Ser)
c.1172C>T (p.Ala391Val)
c.893C>T (p.Ala298Val)
c.158C>T (p.Ala53Val)
n.350C>T
n.504C>T
c.-2C>T (n.-2C>T)
n.225C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.21709916_21709925dupCA2806211950OTOAc.1133_1142dup (p.Gln381HisfsTer8)
c.1009_1018dup (p.Arg340MetfsTer?)
c.1175_1184dup (p.Gln395HisfsTer8)
c.896_905dup (p.Gln302HisfsTer8)
c.161_170dup (p.Gln57HisfsTer8)
n.353_362dup
n.507_516dup
c.2_11dup (p.Gln4HisfsTer8)
n.228_237dup
16g.21709914C>ACA494117477OTOAc.1131C>A (p.Ala377=)
c.1007C>A (p.Pro336Gln)
c.1173C>A (p.Ala391=)
c.894C>A (p.Ala298=)
c.159C>A (p.Ala53=)
n.351C>A
n.505C>A
c.-1C>A (n.-1C>A)
n.226C>A
16g.21709914C=CA2212563339OTOAc.1131C= (p.Ala377=)
c.1007C= (p.Pro336=)
c.1173C= (p.Ala391=)
c.894C= (p.Ala298=)
c.159C= (p.Ala53=)
n.351C=
n.505C=
c.-1C= (n.-1C=)
n.226C=
16g.21709914C>GCA494117478OTOAc.1131C>G (p.Ala377=)
c.1007C>G (p.Pro336Arg)
c.1173C>G (p.Ala391=)
c.894C>G (p.Ala298=)
c.159C>G (p.Ala53=)
n.351C>G
n.505C>G
c.-1C>G (n.-1C>G)
n.226C>G
16g.21709914C>TCA494117479OTOAc.1131C>T (p.Ala377=)
c.1007C>T (p.Pro336Leu)
c.1173C>T (p.Ala391=)
c.894C>T (p.Ala298=)
c.159C>T (p.Ala53=)
n.351C>T
n.505C>T
c.-1C>T (n.-1C>T)
n.226C>T
 dbSNP gnomAD v2
16g.21709915A=CA2212563342OTOAc.1132A= (p.Met378=)
c.1008A= (p.Pro336=)
c.1174A= (p.Met392=)
c.895A= (p.Met299=)
c.160A= (p.Met54=)
n.352A=
n.506A=
c.1A= (p.Met1=)
n.227A=
16g.21709915A>CCA395062038OTOAc.1132A>C (p.Met378Leu)
c.1008A>C (p.Pro336=)
c.1174A>C (p.Met392Leu)
c.895A>C (p.Met299Leu)
c.160A>C (p.Met54Leu)
n.352A>C
n.506A>C
c.1A>C (p.Met1Leu)
n.227A>C
16g.21709915A>GCA395062040OTOAc.1132A>G (p.Met378Val)
c.1008A>G (p.Pro336=)
c.1174A>G (p.Met392Val)
c.895A>G (p.Met299Val)
c.160A>G (p.Met54Val)
n.352A>G
n.506A>G
c.1A>G (p.Met1Val)
n.227A>G
 dbSNP gnomAD v2 gnomAD v4
16g.21709915A>TCA395062041OTOAc.1132A>T (p.Met378Leu)
c.1008A>T (p.Pro336=)
c.1174A>T (p.Met392Leu)
c.895A>T (p.Met299Leu)
c.160A>T (p.Met54Leu)
n.352A>T
n.506A>T
c.1A>T (p.Met1Leu)
n.227A>T
16g.21709916T>ACA395062049OTOAc.1133T>A (p.Met378Lys)
c.1009T>A (p.Trp337Arg)
c.1175T>A (p.Met392Lys)
c.896T>A (p.Met299Lys)
c.161T>A (p.Met54Lys)
n.353T>A
n.507T>A
c.2T>A (p.Met1Lys)
n.228T>A
16g.21709916T>CCA395062047OTOAc.1133T>C (p.Met378Thr)
c.1009T>C (p.Trp337Arg)
c.1175T>C (p.Met392Thr)
c.896T>C (p.Met299Thr)
c.161T>C (p.Met54Thr)
n.353T>C
n.507T>C
c.2T>C (p.Met1Thr)
n.228T>C
 gnomAD v4
16g.21709916T>GCA395062044OTOAc.1133T>G (p.Met378Arg)
c.1009T>G (p.Trp337Gly)
c.1175T>G (p.Met392Arg)
c.896T>G (p.Met299Arg)
c.161T>G (p.Met54Arg)
n.353T>G
n.507T>G
c.2T>G (p.Met1Arg)
n.228T>G
16g.21709917G>ACA395062050OTOAc.1134G>A (p.Met378Ile)
c.1010G>A (p.Trp337Ter)
c.1176G>A (p.Met392Ile)
c.897G>A (p.Met299Ile)
c.162G>A (p.Met54Ile)
n.354G>A
n.508G>A
c.3G>A (p.Met1Ile)
n.229G>A
 COSMIC COSMIC COSMIC
16g.21709917G>CCA395062053OTOAc.1134G>C (p.Met378Ile)
c.1010G>C (p.Trp337Ser)
c.1176G>C (p.Met392Ile)
c.897G>C (p.Met299Ile)
c.162G>C (p.Met54Ile)
n.354G>C
n.508G>C
c.3G>C (p.Met1Ile)
n.229G>C
16g.21709917G>TCA395062054OTOAc.1134G>T (p.Met378Ile)
c.1010G>T (p.Trp337Leu)
c.1176G>T (p.Met392Ile)
c.897G>T (p.Met299Ile)
c.162G>T (p.Met54Ile)
n.354G>T
n.508G>T
c.3G>T (p.Met1Ile)
n.229G>T
16g.21709918G>ACA395062061OTOAc.1135G>A (p.Glu379Lys)
c.1011G>A (p.Trp337Ter)
c.1177G>A (p.Glu393Lys)
c.898G>A (p.Glu300Lys)
c.163G>A (p.Glu55Lys)
n.355G>A
n.509G>A
c.4G>A (p.Glu2Lys)
n.230G>A
16g.21709918G>CCA395062064OTOAc.1135G>C (p.Glu379Gln)
c.1011G>C (p.Trp337Cys)
c.1177G>C (p.Glu393Gln)
c.898G>C (p.Glu300Gln)
c.163G>C (p.Glu55Gln)
n.355G>C
n.509G>C
c.4G>C (p.Glu2Gln)
n.230G>C
 dbSNP
16g.21709918G=CA2212563346OTOAc.1135G= (p.Glu379=)
c.1011G= (p.Trp337=)
c.1177G= (p.Glu393=)
c.898G= (p.Glu300=)
c.163G= (p.Glu55=)
n.355G=
n.509G=
c.4G= (p.Glu2=)
n.230G=
16g.21709918G>TCA395062066OTOAc.1135G>T (p.Glu379Ter)
c.1011G>T (p.Trp337Cys)
c.1177G>T (p.Glu393Ter)
c.898G>T (p.Glu300Ter)
c.163G>T (p.Glu55Ter)
n.355G>T
n.509G>T
c.4G>T (p.Glu2Ter)
n.230G>T
16g.21709919A>CCA395062069OTOAc.1136A>C (p.Glu379Ala)
c.1012A>C (p.Arg338=)
c.1178A>C (p.Glu393Ala)
c.899A>C (p.Glu300Ala)
c.164A>C (p.Glu55Ala)
n.356A>C
n.510A>C
c.5A>C (p.Glu2Ala)
n.231A>C
16g.21709919A>GCA395062072OTOAc.1136A>G (p.Glu379Gly)
c.1012A>G (p.Arg338Gly)
c.1178A>G (p.Glu393Gly)
c.899A>G (p.Glu300Gly)
c.164A>G (p.Glu55Gly)
n.356A>G
n.510A>G
c.5A>G (p.Glu2Gly)
n.231A>G
16g.21709919A>TCA395062070OTOAc.1136A>T (p.Glu379Val)
c.1012A>T (p.Arg338Ter)
c.1178A>T (p.Glu393Val)
c.899A>T (p.Glu300Val)
c.164A>T (p.Glu55Val)
n.356A>T
n.510A>T
c.5A>T (p.Glu2Val)
n.231A>T
16g.21709920G>ACA7952557OTOAc.1137G>A (p.Glu379=)
c.1013G>A (p.Arg338Lys)
c.1179G>A (p.Glu393=)
c.900G>A (p.Glu300=)
c.165G>A (p.Glu55=)
n.357G>A
n.511G>A
c.6G>A (p.Glu2=)
n.232G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.21709920G>CCA395062076OTOAc.1137G>C (p.Glu379Asp)
c.1013G>C (p.Arg338Thr)
c.1179G>C (p.Glu393Asp)
c.900G>C (p.Glu300Asp)
c.165G>C (p.Glu55Asp)
n.357G>C
n.511G>C
c.6G>C (p.Glu2Asp)
n.232G>C
16g.21709920G=CA2212563349OTOAc.1137G= (p.Glu379=)
c.1013G= (p.Arg338=)
c.1179G= (p.Glu393=)
c.900G= (p.Glu300=)
c.165G= (p.Glu55=)
n.357G=
n.511G=
c.6G= (p.Glu2=)
n.232G=
16g.21709920G>TCA395062078OTOAc.1137G>T (p.Glu379Asp)
c.1013G>T (p.Arg338Ile)
c.1179G>T (p.Glu393Asp)
c.900G>T (p.Glu300Asp)
c.165G>T (p.Glu55Asp)
n.357G>T
n.511G>T
c.6G>T (p.Glu2Asp)
n.232G>T
16g.21709921A=CA2212563353OTOAc.1138A= (p.Asn380=)
c.1014A= (p.Arg338=)
c.1180A= (p.Asn394=)
c.901A= (p.Asn301=)
c.166A= (p.Asn56=)
n.358A=
n.512A=
c.7A= (p.Asn3=)
n.233A=
16g.21709921A>CCA395062081OTOAc.1138A>C (p.Asn380His)
c.1014A>C (p.Arg338Ser)
c.1180A>C (p.Asn394His)
c.901A>C (p.Asn301His)
c.166A>C (p.Asn56His)
n.358A>C
n.512A>C
c.7A>C (p.Asn3His)
n.233A>C
16g.21709921A>GCA7952558OTOAc.1138A>G (p.Asn380Asp)
c.1014A>G (p.Arg338=)
c.1180A>G (p.Asn394Asp)
c.901A>G (p.Asn301Asp)
c.166A>G (p.Asn56Asp)
n.358A>G
n.512A>G
c.7A>G (p.Asn3Asp)
n.233A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.21709921A>TCA395062084OTOAc.1138A>T (p.Asn380Tyr)
c.1014A>T (p.Arg338Ser)
c.1180A>T (p.Asn394Tyr)
c.901A>T (p.Asn301Tyr)
c.166A>T (p.Asn56Tyr)
n.358A>T
n.512A>T
c.7A>T (p.Asn3Tyr)
n.233A>T
16g.21709922A=CA2212563356OTOAc.1139A= (p.Asn380=)
c.1015A= (p.Thr339=)
c.1181A= (p.Asn394=)
c.902A= (p.Asn301=)
c.167A= (p.Asn56=)
n.359A=
n.513A=
c.8A= (p.Asn3=)
n.234A=
16g.21709922A>CCA395062086OTOAc.1139A>C (p.Asn380Thr)
c.1015A>C (p.Thr339Pro)
c.1181A>C (p.Asn394Thr)
c.902A>C (p.Asn301Thr)
c.167A>C (p.Asn56Thr)
n.359A>C
n.513A>C
c.8A>C (p.Asn3Thr)
n.234A>C
16g.21709922A>GCA395062087OTOAc.1139A>G (p.Asn380Ser)
c.1015A>G (p.Thr339Ala)
c.1181A>G (p.Asn394Ser)
c.902A>G (p.Asn301Ser)
c.167A>G (p.Asn56Ser)
n.359A>G
n.513A>G
c.8A>G (p.Asn3Ser)
n.234A>G
 dbSNP
16g.21709922A>TCA395062088OTOAc.1139A>T (p.Asn380Ile)
c.1015A>T (p.Thr339Ser)
c.1181A>T (p.Asn394Ile)
c.902A>T (p.Asn301Ile)
c.167A>T (p.Asn56Ile)
n.359A>T
n.513A>T
c.8A>T (p.Asn3Ile)
n.234A>T
16g.21709923C>ACA395062092OTOAc.1140C>A (p.Asn380Lys)
c.1016C>A (p.Thr339Asn)
c.1182C>A (p.Asn394Lys)
c.903C>A (p.Asn301Lys)
c.168C>A (p.Asn56Lys)
n.360C>A
n.514C>A
c.9C>A (p.Asn3Lys)
n.235C>A
 dbSNP gnomAD v3 gnomAD v4
16g.21709923C=CA2212563359OTOAc.1140C= (p.Asn380=)
c.1016C= (p.Thr339=)
c.1182C= (p.Asn394=)
c.903C= (p.Asn301=)
c.168C= (p.Asn56=)
n.360C=
n.514C=
c.9C= (p.Asn3=)
n.235C=
16g.21709923C>GCA395062094OTOAc.1140C>G (p.Asn380Lys)
c.1016C>G (p.Thr339Ser)
c.1182C>G (p.Asn394Lys)
c.903C>G (p.Asn301Lys)
c.168C>G (p.Asn56Lys)
n.360C>G
n.514C>G
c.9C>G (p.Asn3Lys)
n.235C>G
16g.21709923C>TCA279403717OTOAc.1140C>T (p.Asn380=)
c.1016C>T (p.Thr339Ile)
c.1182C>T (p.Asn394=)
c.903C>T (p.Asn301=)
c.168C>T (p.Asn56=)
n.360C>T
n.514C>T
c.9C>T (p.Asn3=)
n.235C>T
 dbSNP gnomAD v4
16g.21709924C>ACA395062097OTOAc.1141C>A (p.Gln381Lys)
c.1017C>A (p.Thr339=)
c.1183C>A (p.Gln395Lys)
c.904C>A (p.Gln302Lys)
c.169C>A (p.Gln57Lys)
n.361C>A
n.515C>A
c.10C>A (p.Gln4Lys)
n.236C>A
16g.21709924C=CA2212563367OTOAc.1141C= (p.Gln381=)
c.1017C= (p.Thr339=)
c.1183C= (p.Gln395=)
c.904C= (p.Gln302=)
c.169C= (p.Gln57=)
n.361C=
n.515C=
c.10C= (p.Gln4=)
n.236C=
16g.21709924C>GCA183146OTOAc.1141C>G (p.Gln381Glu)
c.1017C>G (p.Thr339=)
c.1183C>G (p.Gln395Glu)
c.904C>G (p.Gln302Glu)
c.169C>G (p.Gln57Glu)
n.361C>G
n.515C>G
c.10C>G (p.Gln4Glu)
n.236C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.21709924C>TCA395062099OTOAc.1141C>T (p.Gln381Ter)
c.1017C>T (p.Thr339=)
c.1183C>T (p.Gln395Ter)
c.904C>T (p.Gln302Ter)
c.169C>T (p.Gln57Ter)
n.361C>T
n.515C>T
c.10C>T (p.Gln4Ter)
n.236C>T
 dbSNP
16g.21709925A>CCA395062103OTOAc.1142A>C (p.Gln381Pro)
c.1018A>C (p.Arg340=)
c.1184A>C (p.Gln395Pro)
c.905A>C (p.Gln302Pro)
c.170A>C (p.Gln57Pro)
n.362A>C
n.516A>C
c.11A>C (p.Gln4Pro)
n.237A>C
16g.21709925A>GCA395062104OTOAc.1142A>G (p.Gln381Arg)
c.1018A>G (p.Arg340Gly)
c.1184A>G (p.Gln395Arg)
c.905A>G (p.Gln302Arg)
c.170A>G (p.Gln57Arg)
n.362A>G
n.516A>G
c.11A>G (p.Gln4Arg)
n.237A>G
16g.21709925A>TCA395062106OTOAc.1142A>T (p.Gln381Leu)
c.1018A>T (p.Arg340Ter)
c.1184A>T (p.Gln395Leu)
c.905A>T (p.Gln302Leu)
c.170A>T (p.Gln57Leu)
n.362A>T
n.516A>T
c.11A>T (p.Gln4Leu)
n.237A>T
16g.21709926G>ACA494117493OTOAc.1143G>A (p.Gln381=)
c.1019G>A (p.Arg340Lys)
c.1185G>A (p.Gln395=)
c.906G>A (p.Gln302=)
c.171G>A (p.Gln57=)
n.363G>A
n.517G>A
c.12G>A (p.Gln4=)
n.238G>A
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
16g.21709926G>CCA395062109OTOAc.1143G>C (p.Gln381His)
c.1019G>C (p.Arg340Thr)
c.1185G>C (p.Gln395His)
c.906G>C (p.Gln302His)
c.171G>C (p.Gln57His)
n.363G>C
n.517G>C
c.12G>C (p.Gln4His)
n.238G>C
 gnomAD v4
16g.21709926G=CA2212563378OTOAc.1143G= (p.Gln381=)
c.1019G= (p.Arg340=)
c.1185G= (p.Gln395=)
c.906G= (p.Gln302=)
c.171G= (p.Gln57=)
n.363G=
n.517G=
c.12G= (p.Gln4=)
n.238G=
16g.21709926G>TCA395062110OTOAc.1143G>T (p.Gln381His)
c.1019G>T (p.Arg340Ile)
c.1185G>T (p.Gln395His)
c.906G>T (p.Gln302His)
c.171G>T (p.Gln57His)
n.363G>T
n.517G>T
c.12G>T (p.Gln4His)
n.238G>T
16g.21709927A=CA2212563382OTOAc.1144A= (p.Thr382=)
c.1020A= (p.Arg340=)
c.1186A= (p.Thr396=)
c.907A= (p.Thr303=)
c.172A= (p.Thr58=)
n.364A=
n.518A=
c.13A= (p.Thr5=)
n.239A=
16g.21709927A>CCA395062113OTOAc.1144A>C (p.Thr382Pro)
c.1020A>C (p.Arg340Ser)
c.1186A>C (p.Thr396Pro)
c.907A>C (p.Thr303Pro)
c.172A>C (p.Thr58Pro)
n.364A>C
n.518A>C
c.13A>C (p.Thr5Pro)
n.239A>C
16g.21709927A>GCA395062116OTOAc.1144A>G (p.Thr382Ala)
c.1020A>G (p.Arg340=)
c.1186A>G (p.Thr396Ala)
c.907A>G (p.Thr303Ala)
c.172A>G (p.Thr58Ala)
n.364A>G
n.518A>G
c.13A>G (p.Thr5Ala)
n.239A>G
 dbSNP
16g.21709927A>TCA395062118OTOAc.1144A>T (p.Thr382Ser)
c.1020A>T (p.Arg340Ser)
c.1186A>T (p.Thr396Ser)
c.907A>T (p.Thr303Ser)
c.172A>T (p.Thr58Ser)
n.364A>T
n.518A>T
c.13A>T (p.Thr5Ser)
n.239A>T
16g.21709928C>ACA395062121OTOAc.1145C>A (p.Thr382Asn)
c.1021C>A (p.Pro341Thr)
c.1187C>A (p.Thr396Asn)
c.908C>A (p.Thr303Asn)
c.173C>A (p.Thr58Asn)
n.365C>A
n.519C>A
c.14C>A (p.Thr5Asn)
n.240C>A
 dbSNP gnomAD v4
16g.21709928C=CA2212563385OTOAc.1145C= (p.Thr382=)
c.1021C= (p.Pro341=)
c.1187C= (p.Thr396=)
c.908C= (p.Thr303=)
c.173C= (p.Thr58=)
n.365C=
n.519C=
c.14C= (p.Thr5=)
n.240C=
16g.21709928C>GCA395062123OTOAc.1145C>G (p.Thr382Ser)
c.1021C>G (p.Pro341Ala)
c.1187C>G (p.Thr396Ser)
c.908C>G (p.Thr303Ser)
c.173C>G (p.Thr58Ser)
n.365C>G
n.519C>G
c.14C>G (p.Thr5Ser)
n.240C>G
16g.21709928C>TCA395062125OTOAc.1145C>T (p.Thr382Ile)
c.1021C>T (p.Pro341Ser)
c.1187C>T (p.Thr396Ile)
c.908C>T (p.Thr303Ile)
c.173C>T (p.Thr58Ile)
n.365C>T
n.519C>T
c.14C>T (p.Thr5Ile)
n.240C>T
16g.21709929C>ACA494117499OTOAc.1146C>A (p.Thr382=)
c.1022C>A (p.Pro341His)
c.1188C>A (p.Thr396=)
c.909C>A (p.Thr303=)
c.174C>A (p.Thr58=)
n.366C>A
n.520C>A
c.15C>A (p.Thr5=)
n.241C>A
16g.21709929C>GCA494117497OTOAc.1146C>G (p.Thr382=)
c.1022C>G (p.Pro341Arg)
c.1188C>G (p.Thr396=)
c.909C>G (p.Thr303=)
c.174C>G (p.Thr58=)
n.366C>G
n.520C>G
c.15C>G (p.Thr5=)
n.241C>G
16g.21709929C>TCA494117498OTOAc.1146C>T (p.Thr382=)
c.1022C>T (p.Pro341Leu)
c.1188C>T (p.Thr396=)
c.909C>T (p.Thr303=)
c.174C>T (p.Thr58=)
n.366C>T
n.520C>T
c.15C>T (p.Thr5=)
n.241C>T
16g.21709930C>ACA395062132OTOAc.1147C>A (p.Leu383Ile)
c.1023C>A (p.Pro341=)
c.1189C>A (p.Leu397Ile)
c.910C>A (p.Leu304Ile)
c.175C>A (p.Leu59Ile)
n.367C>A
n.521C>A
c.16C>A (p.Leu6Ile)
n.242C>A
16g.21709930C>GCA395062130OTOAc.1147C>G (p.Leu383Val)
c.1023C>G (p.Pro341=)
c.1189C>G (p.Leu397Val)
c.910C>G (p.Leu304Val)
c.175C>G (p.Leu59Val)
n.367C>G
n.521C>G
c.16C>G (p.Leu6Val)
n.242C>G
16g.21709930C>TCA395062127OTOAc.1147C>T (p.Leu383Phe)
c.1023C>T (p.Pro341=)
c.1189C>T (p.Leu397Phe)
c.910C>T (p.Leu304Phe)
c.175C>T (p.Leu59Phe)
n.367C>T
n.521C>T
c.16C>T (p.Leu6Phe)
n.242C>T
16g.21709931T>ACA395062134OTOAc.1148T>A (p.Leu383His)
c.1024T>A (p.Ser342Thr)
c.1190T>A (p.Leu397His)
c.911T>A (p.Leu304His)
c.176T>A (p.Leu59His)
n.368T>A
n.522T>A
c.17T>A (p.Leu6His)
n.243T>A
16g.21709931T>CCA395062135OTOAc.1148T>C (p.Leu383Pro)
c.1024T>C (p.Ser342Pro)
c.1190T>C (p.Leu397Pro)
c.911T>C (p.Leu304Pro)
c.176T>C (p.Leu59Pro)
n.368T>C
n.522T>C
c.17T>C (p.Leu6Pro)
n.243T>C
16g.21709931T>GCA395062137OTOAc.1148T>G (p.Leu383Arg)
c.1024T>G (p.Ser342Ala)
c.1190T>G (p.Leu397Arg)
c.911T>G (p.Leu304Arg)
c.176T>G (p.Leu59Arg)
n.368T>G
n.522T>G
c.17T>G (p.Leu6Arg)
n.243T>G
16g.21709932C>ACA494117503OTOAc.1149C>A (p.Leu383=)
c.1025C>A (p.Ser342Ter)
c.1191C>A (p.Leu397=)
c.912C>A (p.Leu304=)
c.177C>A (p.Leu59=)
n.369C>A
n.523C>A
c.18C>A (p.Leu6=)
n.244C>A
 gnomAD v4
16g.21709932C>GCA494117504OTOAc.1149C>G (p.Leu383=)
c.1025C>G (p.Ser342Ter)
c.1191C>G (p.Leu397=)
c.912C>G (p.Leu304=)
c.177C>G (p.Leu59=)
n.369C>G
n.523C>G
c.18C>G (p.Leu6=)
n.244C>G
 gnomAD v4
16g.21709932C>TCA494117505OTOAc.1149C>T (p.Leu383=)
c.1025C>T (p.Ser342Leu)
c.1191C>T (p.Leu397=)
c.912C>T (p.Leu304=)
c.177C>T (p.Leu59=)
n.369C>T
n.523C>T
c.18C>T (p.Leu6=)
n.244C>T
16g.21709933A>CCA395062140OTOAc.1150A>C (p.Asn384His)
c.1026A>C (p.Ser342=)
c.1192A>C (p.Asn398His)
c.913A>C (p.Asn305His)
c.178A>C (p.Asn60His)
n.370A>C
n.524A>C
c.19A>C (p.Asn7His)
n.245A>C
16g.21709933A>GCA395062142OTOAc.1150A>G (p.Asn384Asp)
c.1026A>G (p.Ser342=)
c.1192A>G (p.Asn398Asp)
c.913A>G (p.Asn305Asp)
c.178A>G (p.Asn60Asp)
n.370A>G
n.524A>G
c.19A>G (p.Asn7Asp)
n.245A>G
16g.21709933A>TCA395062143OTOAc.1150A>T (p.Asn384Tyr)
c.1026A>T (p.Ser342=)
c.1192A>T (p.Asn398Tyr)
c.913A>T (p.Asn305Tyr)
c.178A>T (p.Asn60Tyr)
n.370A>T
n.524A>T
c.19A>T (p.Asn7Tyr)
n.245A>T
 gnomAD v4
16g.21709934A=CA2212563390OTOAc.1151A= (p.Asn384=)
c.1027A= (p.Met343=)
c.1193A= (p.Asn398=)
c.914A= (p.Asn305=)
c.179A= (p.Asn60=)
n.371A=
n.525A=
c.20A= (p.Asn7=)
n.246A=
16g.21709934A>CCA395062146OTOAc.1151A>C (p.Asn384Thr)
c.1027A>C (p.Met343Leu)
c.1193A>C (p.Asn398Thr)
c.914A>C (p.Asn305Thr)
c.179A>C (p.Asn60Thr)
n.371A>C
n.525A>C
c.20A>C (p.Asn7Thr)
n.246A>C
16g.21709934A>GCA7952559OTOAc.1151A>G (p.Asn384Ser)
c.1027A>G (p.Met343Val)
c.1193A>G (p.Asn398Ser)
c.914A>G (p.Asn305Ser)
c.179A>G (p.Asn60Ser)
n.371A>G
n.525A>G
c.20A>G (p.Asn7Ser)
n.246A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.21709934A>TCA395062150OTOAc.1151A>T (p.Asn384Ile)
c.1027A>T (p.Met343Leu)
c.1193A>T (p.Asn398Ile)
c.914A>T (p.Asn305Ile)
c.179A>T (p.Asn60Ile)
n.371A>T
n.525A>T
c.20A>T (p.Asn7Ile)
n.246A>T
16g.21709935T>ACA395062153OTOAc.1152T>A (p.Asn384Lys)
c.1028T>A (p.Met343Lys)
c.1194T>A (p.Asn398Lys)
c.915T>A (p.Asn305Lys)
c.180T>A (p.Asn60Lys)
n.372T>A
n.526T>A
c.21T>A (p.Asn7Lys)
n.247T>A
16g.21709935T>CCA7952560OTOAc.1152T>C (p.Asn384=)
c.1028T>C (p.Met343Thr)
c.1194T>C (p.Asn398=)
c.915T>C (p.Asn305=)
c.180T>C (p.Asn60=)
n.372T>C
n.526T>C
c.21T>C (p.Asn7=)
n.247T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.21709935T>GCA395062156OTOAc.1152T>G (p.Asn384Lys)
c.1028T>G (p.Met343Arg)
c.1194T>G (p.Asn398Lys)
c.915T>G (p.Asn305Lys)
c.180T>G (p.Asn60Lys)
n.372T>G
n.526T>G
c.21T>G (p.Asn7Lys)
n.247T>G
16g.21709935T=CA2212563394OTOAc.1152T= (p.Asn384=)
c.1028T= (p.Met343=)
c.1194T= (p.Asn398=)
c.915T= (p.Asn305=)
c.180T= (p.Asn60=)
n.372T=
n.526T=
c.21T= (p.Asn7=)
n.247T=
16g.21709936G>ACA395062163OTOAc.1153G>A (p.Glu385Lys)
c.1029G>A (p.Met343Ile)
c.1195G>A (p.Glu399Lys)
c.916G>A (p.Glu306Lys)
c.181G>A (p.Glu61Lys)
n.373G>A
n.527G>A
c.22G>A (p.Glu8Lys)
n.248G>A
 dbSNP
16g.21709936G>CCA395062161OTOAc.1153G>C (p.Glu385Gln)
c.1029G>C (p.Met343Ile)
c.1195G>C (p.Glu399Gln)
c.916G>C (p.Glu306Gln)
c.181G>C (p.Glu61Gln)
n.373G>C
n.527G>C
c.22G>C (p.Glu8Gln)
n.248G>C
16g.21709936G=CA2212563395OTOAc.1153G= (p.Glu385=)
c.1029G= (p.Met343=)
c.1195G= (p.Glu399=)
c.916G= (p.Glu306=)
c.181G= (p.Glu61=)
n.373G=
n.527G=
c.22G= (p.Glu8=)
n.248G=
16g.21709936G>TCA395062159OTOAc.1153G>T (p.Glu385Ter)
c.1029G>T (p.Met343Ile)
c.1195G>T (p.Glu399Ter)
c.916G>T (p.Glu306Ter)
c.181G>T (p.Glu61Ter)
n.373G>T
n.527G>T
c.22G>T (p.Glu8Ter)
n.248G>T
 gnomAD v4
16g.21709936_21709939dupCA2632220216OTOAc.1153_1156dup (p.Thr386ArgfsTer?)
c.1029_1032dup (p.Pro345GlufsTer?)
c.1195_1198dup (p.Thr400ArgfsTer?)
c.916_919dup (p.Thr307ArgfsTer?)
c.181_184dup (p.Thr62ArgfsTer?)
n.373_376dup
n.527_530dup
c.22_25dup (p.Thr9ArgfsTer?)
n.248_251dup
 gnomAD v4
16g.21709937A=CA2212563397OTOAc.1154A= (p.Glu385=)
c.1030A= (p.Arg344=)
c.1196A= (p.Glu399=)
c.917A= (p.Glu306=)
c.182A= (p.Glu61=)
n.374A=
n.528A=
c.23A= (p.Glu8=)
n.249A=
16g.21709937A>CCA395062165OTOAc.1154A>C (p.Glu385Ala)
c.1030A>C (p.Arg344=)
c.1196A>C (p.Glu399Ala)
c.917A>C (p.Glu306Ala)
c.182A>C (p.Glu61Ala)
n.374A>C
n.528A>C
c.23A>C (p.Glu8Ala)
n.249A>C
16g.21709937A>GCA395062169OTOAc.1154A>G (p.Glu385Gly)
c.1030A>G (p.Arg344Gly)
c.1196A>G (p.Glu399Gly)
c.917A>G (p.Glu306Gly)
c.182A>G (p.Glu61Gly)
n.374A>G
n.528A>G
c.23A>G (p.Glu8Gly)
n.249A>G
 dbSNP gnomAD v2 gnomAD v4
16g.21709937A>TCA395062167OTOAc.1154A>T (p.Glu385Val)
c.1030A>T (p.Arg344Ter)
c.1196A>T (p.Glu399Val)
c.917A>T (p.Glu306Val)
c.182A>T (p.Glu61Val)
n.374A>T
n.528A>T
c.23A>T (p.Glu8Val)
n.249A>T
16g.21709938G>ACA494117507OTOAc.1155G>A (p.Glu385=)
c.1031G>A (p.Arg344Lys)
c.1197G>A (p.Glu399=)
c.918G>A (p.Glu306=)
c.183G>A (p.Glu61=)
n.375G>A
n.529G>A
c.24G>A (p.Glu8=)
n.250G>A
16g.21709938G>CCA395062171OTOAc.1155G>C (p.Glu385Asp)
c.1031G>C (p.Arg344Thr)
c.1197G>C (p.Glu399Asp)
c.918G>C (p.Glu306Asp)
c.183G>C (p.Glu61Asp)
n.375G>C
n.529G>C
c.24G>C (p.Glu8Asp)
n.250G>C
16g.21709938G>TCA395062173OTOAc.1155G>T (p.Glu385Asp)
c.1031G>T (p.Arg344Ile)
c.1197G>T (p.Glu399Asp)
c.918G>T (p.Glu306Asp)
c.183G>T (p.Glu61Asp)
n.375G>T
n.529G>T
c.24G>T (p.Glu8Asp)
n.250G>T
16g.21709939A>CCA395062175OTOAc.1156A>C (p.Thr386Pro)
c.1032A>C (p.Arg344Ser)
c.1198A>C (p.Thr400Pro)
c.919A>C (p.Thr307Pro)
c.184A>C (p.Thr62Pro)
n.376A>C
n.530A>C
c.25A>C (p.Thr9Pro)
n.251A>C
16g.21709939A>GCA395062176OTOAc.1156A>G (p.Thr386Ala)
c.1032A>G (p.Arg344=)
c.1198A>G (p.Thr400Ala)
c.919A>G (p.Thr307Ala)
c.184A>G (p.Thr62Ala)
n.376A>G
n.530A>G
c.25A>G (p.Thr9Ala)
n.251A>G
16g.21709939A>TCA395062177OTOAc.1156A>T (p.Thr386Ser)
c.1032A>T (p.Arg344Ser)
c.1198A>T (p.Thr400Ser)
c.919A>T (p.Thr307Ser)
c.184A>T (p.Thr62Ser)
n.376A>T
n.530A>T
c.25A>T (p.Thr9Ser)
n.251A>T
16g.21709940C>ACA395062181OTOAc.1157C>A (p.Thr386Asn)
c.1033C>A (p.Pro345Thr)
c.1199C>A (p.Thr400Asn)
c.920C>A (p.Thr307Asn)
c.185C>A (p.Thr62Asn)
n.377C>A
n.531C>A
c.26C>A (p.Thr9Asn)
n.252C>A
16g.21709940C>GCA395062182OTOAc.1157C>G (p.Thr386Ser)
c.1033C>G (p.Pro345Ala)
c.1199C>G (p.Thr400Ser)
c.920C>G (p.Thr307Ser)
c.185C>G (p.Thr62Ser)
n.377C>G
n.531C>G
c.26C>G (p.Thr9Ser)
n.252C>G
16g.21709940C>TCA395062184OTOAc.1157C>T (p.Thr386Ile)
c.1033C>T (p.Pro345Ser)
c.1199C>T (p.Thr400Ile)
c.920C>T (p.Thr307Ile)
c.185C>T (p.Thr62Ile)
n.377C>T
n.531C>T
c.26C>T (p.Thr9Ile)
n.252C>T
 ClinVar dbSNP
16g.21709941C>ACA494117511OTOAc.1158C>A (p.Thr386=)
c.1034C>A (p.Pro345His)
c.1200C>A (p.Thr400=)
c.921C>A (p.Thr307=)
c.186C>A (p.Thr62=)
n.378C>A
n.532C>A
c.27C>A (p.Thr9=)
n.253C>A
16g.21709941C>GCA494117512OTOAc.1158C>G (p.Thr386=)
c.1034C>G (p.Pro345Arg)
c.1200C>G (p.Thr400=)
c.921C>G (p.Thr307=)
c.186C>G (p.Thr62=)
n.378C>G
n.532C>G
c.27C>G (p.Thr9=)
n.253C>G
 gnomAD v4
16g.21709941C>TCA494117513OTOAc.1158C>T (p.Thr386=)
c.1034C>T (p.Pro345Leu)
c.1200C>T (p.Thr400=)
c.921C>T (p.Thr307=)
c.186C>T (p.Thr62=)
n.378C>T
n.532C>T
c.27C>T (p.Thr9=)
n.253C>T
 ClinVar gnomAD v4
16g.21709942C>ACA395062187OTOAc.1159C>A (p.Leu387Met)
c.1035C>A (p.Pro345=)
c.1201C>A (p.Leu401Met)
c.922C>A (p.Leu308Met)
c.187C>A (p.Leu63Met)
n.379C>A
n.533C>A
c.28C>A (p.Leu10Met)
n.254C>A
16g.21709942C>GCA395062189OTOAc.1159C>G (p.Leu387Val)
c.1035C>G (p.Pro345=)
c.1201C>G (p.Leu401Val)
c.922C>G (p.Leu308Val)
c.187C>G (p.Leu63Val)
n.379C>G
n.533C>G
c.28C>G (p.Leu10Val)
n.254C>G
 gnomAD v4
16g.21709942C>TCA494117514OTOAc.1159C>T (p.Leu387=)
c.1035C>T (p.Pro345=)
c.1201C>T (p.Leu401=)
c.922C>T (p.Leu308=)
c.187C>T (p.Leu63=)
n.379C>T
n.533C>T
c.28C>T (p.Leu10=)
n.254C>T
16g.21709943T>ACA395062192OTOAc.1160T>A (p.Leu387Gln)
c.1036T>A (p.Trp346Arg)
c.1202T>A (p.Leu401Gln)
c.923T>A (p.Leu308Gln)
c.188T>A (p.Leu63Gln)
n.380T>A
n.534T>A
c.29T>A (p.Leu10Gln)
n.255T>A
16g.21709943T>CCA395062194OTOAc.1160T>C (p.Leu387Pro)
c.1036T>C (p.Trp346Arg)
c.1202T>C (p.Leu401Pro)
c.923T>C (p.Leu308Pro)
c.188T>C (p.Leu63Pro)
n.380T>C
n.534T>C
c.29T>C (p.Leu10Pro)
n.255T>C
 ClinVar
16g.21709943T>GCA395062196OTOAc.1160T>G (p.Leu387Arg)
c.1036T>G (p.Trp346Gly)
c.1202T>G (p.Leu401Arg)
c.923T>G (p.Leu308Arg)
c.188T>G (p.Leu63Arg)
n.380T>G
n.534T>G
c.29T>G (p.Leu10Arg)
n.255T>G
16g.21709944G>ACA7952561OTOAc.1161G>A (p.Leu387=)
c.1037G>A (p.Trp346Ter)
c.1203G>A (p.Leu401=)
c.924G>A (p.Leu308=)
c.189G>A (p.Leu63=)
n.381G>A
n.535G>A
c.30G>A (p.Leu10=)
n.256G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.21709944G>CCA494117515OTOAc.1161G>C (p.Leu387=)
c.1037G>C (p.Trp346Ser)
c.1203G>C (p.Leu401=)
c.924G>C (p.Leu308=)
c.189G>C (p.Leu63=)
n.381G>C
n.535G>C
c.30G>C (p.Leu10=)
n.256G>C
16g.21709944G=CA2212563400OTOAc.1161G= (p.Leu387=)
c.1037G= (p.Trp346=)
c.1203G= (p.Leu401=)
c.924G= (p.Leu308=)
c.189G= (p.Leu63=)
n.381G=
n.535G=
c.30G= (p.Leu10=)
n.256G=
16g.21709944G>TCA494117516OTOAc.1161G>T (p.Leu387=)
c.1037G>T (p.Trp346Leu)
c.1203G>T (p.Leu401=)
c.924G>T (p.Leu308=)
c.189G>T (p.Leu63=)
n.381G>T
n.535G>T
c.30G>T (p.Leu10=)
n.256G>T
16g.21709945G>ACA395062201OTOAc.1162G>A (p.Gly388Ser)
c.1038G>A (p.Trp346Ter)
c.1204G>A (p.Gly402Ser)
c.925G>A (p.Gly309Ser)
c.190G>A (p.Gly64Ser)
n.382G>A
n.536G>A
c.31G>A (p.Gly11Ser)
n.257G>A
16g.21709945G>CCA395062202OTOAc.1162G>C (p.Gly388Arg)
c.1038G>C (p.Trp346Cys)
c.1204G>C (p.Gly402Arg)
c.925G>C (p.Gly309Arg)
c.190G>C (p.Gly64Arg)
n.382G>C
n.536G>C
c.31G>C (p.Gly11Arg)
n.257G>C
16g.21709945G>TCA395062204OTOAc.1162G>T (p.Gly388Cys)
c.1038G>T (p.Trp346Cys)
c.1204G>T (p.Gly402Cys)
c.925G>T (p.Gly309Cys)
c.190G>T (p.Gly64Cys)
n.382G>T
n.536G>T
c.31G>T (p.Gly11Cys)
n.257G>T
16g.21709946G>ACA395062207OTOAc.1163G>A (p.Gly388Asp)
c.1039G>A (p.Val347Ile)
c.1205G>A (p.Gly402Asp)
c.926G>A (p.Gly309Asp)
c.191G>A (p.Gly64Asp)
n.383G>A
n.537G>A
c.32G>A (p.Gly11Asp)
n.258G>A
 dbSNP gnomAD v2 gnomAD v4
16g.21709946G>CCA395062209OTOAc.1163G>C (p.Gly388Ala)
c.1039G>C (p.Val347Leu)
c.1205G>C (p.Gly402Ala)
c.926G>C (p.Gly309Ala)
c.191G>C (p.Gly64Ala)
n.383G>C
n.537G>C
c.32G>C (p.Gly11Ala)
n.258G>C
16g.21709946G=CA2212563406OTOAc.1163G= (p.Gly388=)
c.1039G= (p.Val347=)
c.1205G= (p.Gly402=)
c.926G= (p.Gly309=)
c.191G= (p.Gly64=)
n.383G=
n.537G=
c.32G= (p.Gly11=)
n.258G=
16g.21709946G>TCA395062211OTOAc.1163G>T (p.Gly388Val)
c.1039G>T (p.Val347Phe)
c.1205G>T (p.Gly402Val)
c.926G>T (p.Gly309Val)
c.191G>T (p.Gly64Val)
n.383G>T
n.537G>T
c.32G>T (p.Gly11Val)
n.258G>T
 gnomAD v4
16g.21709947T>ACA494117517OTOAc.1164T>A (p.Gly388=)
c.1040T>A (p.Val347Asp)
c.1206T>A (p.Gly402=)
c.927T>A (p.Gly309=)
c.192T>A (p.Gly64=)
n.384T>A
n.538T>A
c.33T>A (p.Gly11=)
n.259T>A
16g.21709947T>CCA494117518OTOAc.1164T>C (p.Gly388=)
c.1040T>C (p.Val347Ala)
c.1206T>C (p.Gly402=)
c.927T>C (p.Gly309=)
c.192T>C (p.Gly64=)
n.384T>C
n.538T>C
c.33T>C (p.Gly11=)
n.259T>C
 gnomAD v4
16g.21709947T>GCA494117519OTOAc.1164T>G (p.Gly388=)
c.1040T>G (p.Val347Gly)
c.1206T>G (p.Gly402=)
c.927T>G (p.Gly309=)
c.192T>G (p.Gly64=)
n.384T>G
n.538T>G
c.33T>G (p.Gly11=)
n.259T>G
16g.21709948T>ACA395062212OTOAc.1165T>A (p.Ser389Thr)
c.1041T>A (p.Val347=)
c.1207T>A (p.Ser403Thr)
c.928T>A (p.Ser310Thr)
c.193T>A (p.Ser65Thr)
n.385T>A
n.539T>A
c.34T>A (p.Ser12Thr)
n.260T>A
 dbSNP gnomAD v2 gnomAD v4
16g.21709948T>CCA395062214OTOAc.1165T>C (p.Ser389Pro)
c.1041T>C (p.Val347=)
c.1207T>C (p.Ser403Pro)
c.928T>C (p.Ser310Pro)
c.193T>C (p.Ser65Pro)
n.385T>C
n.539T>C
c.34T>C (p.Ser12Pro)
n.260T>C
16g.21709948T>GCA395062216OTOAc.1165T>G (p.Ser389Ala)
c.1041T>G (p.Val347=)
c.1207T>G (p.Ser403Ala)
c.928T>G (p.Ser310Ala)
c.193T>G (p.Ser65Ala)
n.385T>G
n.539T>G
c.34T>G (p.Ser12Ala)
n.260T>G
16g.21709948T=CA2212563409OTOAc.1165T= (p.Ser389=)
c.1041T= (p.Val347=)
c.1207T= (p.Ser403=)
c.928T= (p.Ser310=)
c.193T= (p.Ser65=)
n.385T=
n.539T=
c.34T= (p.Ser12=)
n.260T=
16g.21709949C>ACA7952562OTOAc.1166C>A (p.Ser389Tyr)
c.1042C>A (p.Leu348Ile)
c.1208C>A (p.Ser403Tyr)
c.929C>A (p.Ser310Tyr)
c.194C>A (p.Ser65Tyr)
n.386C>A
c.35C>A (p.Ser12Tyr)
n.261C>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.21709949C=CA2212563415OTOAc.1166C= (p.Ser389=)
c.1042C= (p.Leu348=)
c.1208C= (p.Ser403=)
c.929C= (p.Ser310=)
c.194C= (p.Ser65=)
n.386C=
c.35C= (p.Ser12=)
n.261C=
16g.21709949C>GCA395062221OTOAc.1166C>G (p.Ser389Cys)
c.1042C>G (p.Leu348Val)
c.1208C>G (p.Ser403Cys)
c.929C>G (p.Ser310Cys)
c.194C>G (p.Ser65Cys)
n.386C>G
c.35C>G (p.Ser12Cys)
n.261C>G
16g.21709949C>TCA395062222OTOAc.1166C>T (p.Ser389Phe)
c.1042C>T (p.Leu348Phe)
c.1208C>T (p.Ser403Phe)
c.929C>T (p.Ser310Phe)
c.194C>T (p.Ser65Phe)
n.386C>T
c.35C>T (p.Ser12Phe)
n.261C>T
16g.21709950T>ACA494117520OTOAc.1167T>A (p.Ser389=)
c.1043T>A (p.Leu348His)
c.1209T>A (p.Ser403=)
c.930T>A (p.Ser310=)
c.195T>A (p.Ser65=)
n.387T>A
c.36T>A (p.Ser12=)
n.262T>A
16g.21709950T>CCA494117522OTOAc.1167T>C (p.Ser389=)
c.1043T>C (p.Leu348Pro)
c.1209T>C (p.Ser403=)
c.930T>C (p.Ser310=)
c.195T>C (p.Ser65=)
n.387T>C
c.36T>C (p.Ser12=)
n.262T>C
 gnomAD v4
16g.21709950T>GCA494117521OTOAc.1167T>G (p.Ser389=)
c.1043T>G (p.Leu348Arg)
c.1209T>G (p.Ser403=)
c.930T>G (p.Ser310=)
c.195T>G (p.Ser65=)
n.387T>G
c.36T>G (p.Ser12=)
n.262T>G
16g.21709952delCA2575939976OTOAc.1169del (p.Leu390CysfsTer6)
c.1045del (p.Cys349ValfsTer?)
c.1211del (p.Leu404CysfsTer6)
c.932del (p.Leu311CysfsTer6)
c.197del (p.Leu66CysfsTer6)
n.389del
c.38del (p.Leu13CysfsTer6)
n.264del
16g.21709951T>ACA395062224OTOAc.1168T>A (p.Leu390Met)
c.1044T>A (p.Leu348=)
c.1210T>A (p.Leu404Met)
c.931T>A (p.Leu311Met)
c.196T>A (p.Leu66Met)
n.388T>A
c.37T>A (p.Leu13Met)
n.263T>A
16g.21709951T>CCA494117523OTOAc.1168T>C (p.Leu390=)
c.1044T>C (p.Leu348=)
c.1210T>C (p.Leu404=)
c.931T>C (p.Leu311=)
c.196T>C (p.Leu66=)
n.388T>C
c.37T>C (p.Leu13=)
n.263T>C
 dbSNP
16g.21709951T>GCA395062226OTOAc.1168T>G (p.Leu390Val)
c.1044T>G (p.Leu348=)
c.1210T>G (p.Leu404Val)
c.931T>G (p.Leu311Val)
c.196T>G (p.Leu66Val)
n.388T>G
c.37T>G (p.Leu13Val)
n.263T>G
16g.21709951T=CA2212563418OTOAc.1168T= (p.Leu390=)
c.1044T= (p.Leu348=)
c.1210T= (p.Leu404=)
c.931T= (p.Leu311=)
c.196T= (p.Leu66=)
n.388T=
c.37T= (p.Leu13=)
n.263T=
16g.21709951_21709952insACA2632220217OTOAc.1168_1169insA (p.Leu390TyrfsTer?)
c.1044_1045insA (p.Cys349MetfsTer?)
c.1210_1211insA (p.Leu404TyrfsTer?)
c.931_932insA (p.Leu311TyrfsTer?)
c.196_197insA (p.Leu66TyrfsTer?)
n.388_389insA
c.37_38insA (p.Leu13TyrfsTer?)
n.263_264insA
 gnomAD v4
16g.21709952T>ACA395062233OTOAc.1169T>A (p.Leu390Ter)
c.1045T>A (p.Cys349Ser)
c.1211T>A (p.Leu404Ter)
c.932T>A (p.Leu311Ter)
c.197T>A (p.Leu66Ter)
n.389T>A
c.38T>A (p.Leu13Ter)
n.264T>A
 gnomAD v4
16g.21709952T>CCA395062230OTOAc.1169T>C (p.Leu390Ser)
c.1045T>C (p.Cys349Arg)
c.1211T>C (p.Leu404Ser)
c.932T>C (p.Leu311Ser)
c.197T>C (p.Leu66Ser)
n.389T>C
c.38T>C (p.Leu13Ser)
n.264T>C
16g.21709952T>GCA395062231OTOAc.1169T>G (p.Leu390Trp)
c.1045T>G (p.Cys349Gly)
c.1211T>G (p.Leu404Trp)
c.932T>G (p.Leu311Trp)
c.197T>G (p.Leu66Trp)
n.389T>G
c.38T>G (p.Leu13Trp)
n.264T>G
16g.21709953G>ACA494117524OTOAc.1170G>A (p.Leu390=)
c.1046G>A (p.Cys349Tyr)
c.1212G>A (p.Leu404=)
c.933G>A (p.Leu311=)
c.198G>A (p.Leu66=)
n.390G>A
c.39G>A (p.Leu13=)
n.265G>A
 gnomAD v4 COSMIC COSMIC
16g.21709953G>CCA395062235OTOAc.1170G>C (p.Leu390Phe)
c.1046G>C (p.Cys349Ser)
c.1212G>C (p.Leu404Phe)
c.933G>C (p.Leu311Phe)
c.198G>C (p.Leu66Phe)
n.390G>C
c.39G>C (p.Leu13Phe)
n.265G>C
16g.21709953G>TCA395062237OTOAc.1170G>T (p.Leu390Phe)
c.1046G>T (p.Cys349Phe)
c.1212G>T (p.Leu404Phe)
c.933G>T (p.Leu311Phe)
c.198G>T (p.Leu66Phe)
n.390G>T
c.39G>T (p.Leu13Phe)
n.265G>T
16g.21709954T>ACA395062240OTOAc.1171T>A (p.Ser391Thr)
c.1047T>A (p.Cys349Ter)
c.1213T>A (p.Ser405Thr)
c.934T>A (p.Ser312Thr)
c.199T>A (p.Ser67Thr)
n.391T>A
c.40T>A (p.Ser14Thr)
n.266T>A
16g.21709954T>CCA395062242OTOAc.1171T>C (p.Ser391Pro)
c.1047T>C (p.Cys349=)
c.1213T>C (p.Ser405Pro)
c.934T>C (p.Ser312Pro)
c.199T>C (p.Ser67Pro)
n.391T>C
c.40T>C (p.Ser14Pro)
n.266T>C
16g.21709954T>GCA395062244OTOAc.1171T>G (p.Ser391Ala)
c.1047T>G (p.Cys349Trp)
c.1213T>G (p.Ser405Ala)
c.934T>G (p.Ser312Ala)
c.199T>G (p.Ser67Ala)
n.391T>G
c.40T>G (p.Ser14Ala)
n.266T>G
16g.21709955C>ACA395062247OTOAc.1172C>A (p.Ser391Ter)
c.1048C>A (p.Arg350=)
c.1214C>A (p.Ser405Ter)
c.935C>A (p.Ser312Ter)
c.200C>A (p.Ser67Ter)
n.392C>A
c.41C>A (p.Ser14Ter)
n.267C>A
16g.21709955C=CA2212563427OTOAc.1172C= (p.Ser391=)
c.1048C= (p.Arg350=)
c.1214C= (p.Ser405=)
c.935C= (p.Ser312=)
c.200C= (p.Ser67=)
n.392C=
c.41C= (p.Ser14=)
n.267C=
16g.21709955C>GCA279403723OTOAc.1172C>G (p.Ser391Trp)
c.1048C>G (p.Arg350Gly)
c.1214C>G (p.Ser405Trp)
c.935C>G (p.Ser312Trp)
c.200C>G (p.Ser67Trp)
n.392C>G
c.41C>G (p.Ser14Trp)
n.267C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.21709955C>TCA183465OTOAc.1172C>T (p.Ser391Leu)
c.1048C>T (p.Arg350Trp)
c.1214C>T (p.Ser405Leu)
c.935C>T (p.Ser312Leu)
c.200C>T (p.Ser67Leu)
n.392C>T
c.41C>T (p.Ser14Leu)
n.267C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
16g.21709956G>ACA7952563OTOAc.1173G>A (p.Ser391=)
c.1049G>A (p.Arg350Gln)
c.1215G>A (p.Ser405=)
c.936G>A (p.Ser312=)
c.201G>A (p.Ser67=)
n.393G>A
c.42G>A (p.Ser14=)
n.268G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
16g.21709956G>CCA494117525OTOAc.1173G>C (p.Ser391=)
c.1049G>C (p.Arg350Pro)
c.1215G>C (p.Ser405=)
c.936G>C (p.Ser312=)
c.201G>C (p.Ser67=)
n.393G>C
c.42G>C (p.Ser14=)
n.268G>C
16g.21709956G=CA2212563436OTOAc.1173G= (p.Ser391=)
c.1049G= (p.Arg350=)
c.1215G= (p.Ser405=)
c.936G= (p.Ser312=)
c.201G= (p.Ser67=)
n.393G=
c.42G= (p.Ser14=)
n.268G=
16g.21709956G>TCA494117526OTOAc.1173G>T (p.Ser391=)
c.1049G>T (p.Arg350Leu)
c.1215G>T (p.Ser405=)
c.936G>T (p.Ser312=)
c.201G>T (p.Ser67=)
n.393G>T
c.42G>T (p.Ser14=)
n.268G>T
16g.21709957G>ACA395062253OTOAc.1174G>A (p.Asp392Asn)
c.1050G>A (p.Arg350=)
c.1216G>A (p.Asp406Asn)
c.937G>A (p.Asp313Asn)
c.202G>A (p.Asp68Asn)
n.394G>A
c.43G>A (p.Asp15Asn)
n.269G>A
 gnomAD v4
16g.21709957G>CCA395062255OTOAc.1174G>C (p.Asp392His)
c.1050G>C (p.Arg350=)
c.1216G>C (p.Asp406His)
c.937G>C (p.Asp313His)
c.202G>C (p.Asp68His)
n.394G>C
c.43G>C (p.Asp15His)
n.269G>C
 gnomAD v4
16g.21709957G>TCA395062257OTOAc.1174G>T (p.Asp392Tyr)
c.1050G>T (p.Arg350=)
c.1216G>T (p.Asp406Tyr)
c.937G>T (p.Asp313Tyr)
c.202G>T (p.Asp68Tyr)
n.394G>T
c.43G>T (p.Asp15Tyr)
n.269G>T
16g.21709958A>CCA395062260OTOAc.1175A>C (p.Asp392Ala)
c.1051A>C (p.Met351Leu)
c.1217A>C (p.Asp406Ala)
c.938A>C (p.Asp313Ala)
c.203A>C (p.Asp68Ala)
n.395A>C
c.44A>C (p.Asp15Ala)
n.270A>C
16g.21709958A>GCA395062261OTOAc.1175A>G (p.Asp392Gly)
c.1051A>G (p.Met351Val)
c.1217A>G (p.Asp406Gly)
c.938A>G (p.Asp313Gly)
c.203A>G (p.Asp68Gly)
n.395A>G
c.44A>G (p.Asp15Gly)
n.270A>G
16g.21709958A>TCA395062264OTOAc.1175A>T (p.Asp392Val)
c.1051A>T (p.Met351Leu)
c.1217A>T (p.Asp406Val)
c.938A>T (p.Asp313Val)
c.203A>T (p.Asp68Val)
n.395A>T
c.44A>T (p.Asp15Val)
n.270A>T
16g.21709959T>ACA395062266OTOAc.1176T>A (p.Asp392Glu)
c.1052T>A (p.Met351Lys)
c.1218T>A (p.Asp406Glu)
c.939T>A (p.Asp313Glu)
c.204T>A (p.Asp68Glu)
n.396T>A
c.45T>A (p.Asp15Glu)
n.271T>A
 gnomAD v4
16g.21709959T>CCA494117527OTOAc.1176T>C (p.Asp392=)
c.1052T>C (p.Met351Thr)
c.1218T>C (p.Asp406=)
c.939T>C (p.Asp313=)
c.204T>C (p.Asp68=)
n.396T>C
c.45T>C (p.Asp15=)
n.271T>C
16g.21709959T>GCA395062268OTOAc.1176T>G (p.Asp392Glu)
c.1052T>G (p.Met351Arg)
c.1218T>G (p.Asp406Glu)
c.939T>G (p.Asp313Glu)
c.204T>G (p.Asp68Glu)
n.396T>G
c.45T>G (p.Asp15Glu)
n.271T>G
 dbSNP
16g.21709959T=CA2212563445OTOAc.1176T= (p.Asp392=)
c.1052T= (p.Met351=)
c.1218T= (p.Asp406=)
c.939T= (p.Asp313=)
c.204T= (p.Asp68=)
n.396T=
c.45T= (p.Asp15=)
n.271T=
16g.21709960G>ACA395062271OTOAc.1177G>A (p.Ala393Thr)
c.1053G>A (p.Met351Ile)
c.1219G>A (p.Ala407Thr)
c.940G>A (p.Ala314Thr)
c.205G>A (p.Ala69Thr)
n.397G>A
c.46G>A (p.Ala16Thr)
n.272G>A
 gnomAD v4
16g.21709960G>CCA395062272OTOAc.1177G>C (p.Ala393Pro)
c.1053G>C (p.Met351Ile)
c.1219G>C (p.Ala407Pro)
c.940G>C (p.Ala314Pro)
c.205G>C (p.Ala69Pro)
n.397G>C
c.46G>C (p.Ala16Pro)
n.272G>C
16g.21709960G>TCA395062275OTOAc.1177G>T (p.Ala393Ser)
c.1053G>T (p.Met351Ile)
c.1219G>T (p.Ala407Ser)
c.940G>T (p.Ala314Ser)
c.205G>T (p.Ala69Ser)
n.397G>T
c.46G>T (p.Ala16Ser)
n.272G>T
16g.21709961C>ACA395062277OTOAc.1178C>A (p.Ala393Glu)
c.1054C>A (p.Gln352Lys)
c.1220C>A (p.Ala407Glu)
c.941C>A (p.Ala314Glu)
c.206C>A (p.Ala69Glu)
n.398C>A
c.47C>A (p.Ala16Glu)
n.273C>A
16g.21709961C>GCA395062279OTOAc.1178C>G (p.Ala393Gly)
c.1054C>G (p.Gln352Glu)
c.1220C>G (p.Ala407Gly)
c.941C>G (p.Ala314Gly)
c.206C>G (p.Ala69Gly)
n.398C>G
c.47C>G (p.Ala16Gly)
n.273C>G
16g.21709961C>TCA395062281OTOAc.1178C>T (p.Ala393Val)
c.1054C>T (p.Gln352Ter)
c.1220C>T (p.Ala407Val)
c.941C>T (p.Ala314Val)
c.206C>T (p.Ala69Val)
n.398C>T
c.47C>T (p.Ala16Val)
n.273C>T
16g.21709962A>CCA494117528OTOAc.1179A>C (p.Ala393=)
c.1055A>C (p.Gln352Pro)
c.1221A>C (p.Ala407=)
c.942A>C (p.Ala314=)
c.207A>C (p.Ala69=)
n.399A>C
c.48A>C (p.Ala16=)
n.274A>C
16g.21709962A>GCA494117530OTOAc.1179A>G (p.Ala393=)
c.1055A>G (p.Gln352Arg)
c.1221A>G (p.Ala407=)
c.942A>G (p.Ala314=)
c.207A>G (p.Ala69=)
n.399A>G
c.48A>G (p.Ala16=)
n.274A>G
16g.21709962A>TCA494117529OTOAc.1179A>T (p.Ala393=)
c.1055A>T (p.Gln352Leu)
c.1221A>T (p.Ala407=)
c.942A>T (p.Ala314=)
c.207A>T (p.Ala69=)
n.399A>T
c.48A>T (p.Ala16=)
n.274A>T
16g.21709963G>ACA395062284OTOAc.1180G>A (p.Val394Ile)
c.1056G>A (p.Gln352=)
c.1222G>A (p.Val408Ile)
c.943G>A (p.Val315Ile)
c.208G>A (p.Val70Ile)
n.400G>A
c.49G>A (p.Val17Ile)
n.275G>A
16g.21709963G>CCA395062285OTOAc.1180G>C (p.Val394Leu)
c.1056G>C (p.Gln352His)
c.1222G>C (p.Val408Leu)
c.943G>C (p.Val315Leu)
c.208G>C (p.Val70Leu)
n.400G>C
c.49G>C (p.Val17Leu)
n.275G>C
16g.21709963G>TCA395062286OTOAc.1180G>T (p.Val394Phe)
c.1056G>T (p.Gln352His)
c.1222G>T (p.Val408Phe)
c.943G>T (p.Val315Phe)
c.208G>T (p.Val70Phe)
n.400G>T
c.49G>T (p.Val17Phe)
n.275G>T
16g.21709964T>ACA395062288OTOAc.1181T>A (p.Val394Asp)
c.1057T>A (p.Leu353Met)
c.1223T>A (p.Val408Asp)
c.944T>A (p.Val315Asp)
c.209T>A (p.Val70Asp)
n.401T>A
c.50T>A (p.Val17Asp)
n.276T>A
16g.21709964T>CCA395062290OTOAc.1181T>C (p.Val394Ala)
c.1057T>C (p.Leu353=)
c.1223T>C (p.Val408Ala)
c.944T>C (p.Val315Ala)
c.209T>C (p.Val70Ala)
n.401T>C
c.50T>C (p.Val17Ala)
n.276T>C
16g.21709964T>GCA395062292OTOAc.1181T>G (p.Val394Gly)
c.1057T>G (p.Leu353Val)
c.1223T>G (p.Val408Gly)
c.944T>G (p.Val315Gly)
c.209T>G (p.Val70Gly)
n.401T>G
c.50T>G (p.Val17Gly)
n.276T>G
16g.21709965T>ACA494117531OTOAc.1182T>A (p.Val394=)
c.1058T>A (p.Leu353Ter)
c.1224T>A (p.Val408=)
c.945T>A (p.Val315=)
c.210T>A (p.Val70=)
n.402T>A
c.51T>A (p.Val17=)
n.277T>A
16g.21709965T>CCA494117532OTOAc.1182T>C (p.Val394=)
c.1058T>C (p.Leu353Ser)
c.1224T>C (p.Val408=)
c.945T>C (p.Val315=)
c.210T>C (p.Val70=)
n.402T>C
c.51T>C (p.Val17=)
n.277T>C
 gnomAD v4
16g.21709965T>GCA494117533OTOAc.1182T>G (p.Val394=)
c.1058T>G (p.Leu353Trp)
c.1224T>G (p.Val408=)
c.945T>G (p.Val315=)
c.210T>G (p.Val70=)
n.402T>G
c.51T>G (p.Val17=)
n.277T>G
16g.21709966G>ACA395062295OTOAc.1183G>A (p.Val395Ile)
c.1059G>A (p.Leu353=)
c.1225G>A (p.Val409Ile)
c.946G>A (p.Val316Ile)
c.211G>A (p.Val71Ile)
n.403G>A
c.52G>A (p.Val18Ile)
n.278G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.21709966G>CCA395062299OTOAc.1183G>C (p.Val395Leu)
c.1059G>C (p.Leu353Phe)
c.1225G>C (p.Val409Leu)
c.946G>C (p.Val316Leu)
c.211G>C (p.Val71Leu)
n.403G>C
c.52G>C (p.Val18Leu)
n.278G>C
16g.21709966G=CA2212563450OTOAc.1183G= (p.Val395=)
c.1059G= (p.Leu353=)
c.1225G= (p.Val409=)
c.946G= (p.Val316=)
c.211G= (p.Val71=)
n.403G=
c.52G= (p.Val18=)
n.278G=
16g.21709966G>TCA395062297OTOAc.1183G>T (p.Val395Leu)
c.1059G>T (p.Leu353Phe)
c.1225G>T (p.Val409Leu)
c.946G>T (p.Val316Leu)
c.211G>T (p.Val71Leu)
n.403G>T
c.52G>T (p.Val18Leu)
n.278G>T
16g.21709967T>ACA395062302OTOAc.1184T>A (p.Val395Glu)
c.1060T>A (p.Ter354Lys)
c.1226T>A (p.Val409Glu)
c.947T>A (p.Val316Glu)
c.212T>A (p.Val71Glu)
n.404T>A
c.53T>A (p.Val18Glu)
n.279T>A
16g.21709967T>CCA395062303OTOAc.1184T>C (p.Val395Ala)
c.1060T>C (p.Ter354Gln)
c.1226T>C (p.Val409Ala)
c.947T>C (p.Val316Ala)
c.212T>C (p.Val71Ala)
n.404T>C
c.53T>C (p.Val18Ala)
n.279T>C
16g.21709967T>GCA395062305OTOAc.1184T>G (p.Val395Gly)
c.1060T>G (p.Ter354Glu)
c.1226T>G (p.Val409Gly)
c.947T>G (p.Val316Gly)
c.212T>G (p.Val71Gly)
n.404T>G
c.53T>G (p.Val18Gly)
n.279T>G
16g.21709968A>CCA494117534OTOAc.1185A>C (p.Val395=)
c.1061A>C (p.Ter354Ser)
c.1227A>C (p.Val409=)
c.948A>C (p.Val316=)
c.213A>C (p.Val71=)
n.405A>C
c.54A>C (p.Val18=)
n.280A>C
16g.21709968A>GCA494117535OTOAc.1185A>G (p.Val395=)
c.1061A>G (p.Ter354Trp)
c.1227A>G (p.Val409=)
c.948A>G (p.Val316=)
c.213A>G (p.Val71=)
n.405A>G
c.54A>G (p.Val18=)
n.280A>G
16g.21709968A>TCA494117536OTOAc.1185A>T (p.Val395=)
c.1061A>T (p.Ter354Leu)
c.1227A>T (p.Val409=)
c.948A>T (p.Val316=)
c.213A>T (p.Val71=)
n.405A>T
c.54A>T (p.Val18=)
n.280A>T

Number of alleles fetched