Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.67490352C>ACA6140909AIPc.659C>A
c.493C>A (p.Gln165Lys)
n.1194C>A
c.469-645C>A (n.469-645C>A)
c.313C>A (p.Gln105Lys)
c.682C>A (p.Gln228Lys)
c.505C>A (p.Gln169Lys)
c.502C>A (p.Gln168Lys)
c.334C>A (p.Gln112Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490352C=CA1980172416AIPc.659C=
c.493C= (p.Gln165=)
n.1194C=
c.469-645C= (n.469-645C=)
c.313C= (p.Gln105=)
c.682C= (p.Gln228=)
c.505C= (p.Gln169=)
c.502C= (p.Gln168=)
c.334C= (p.Gln112=)
11g.67490352C>GCA381551580AIPc.659C>G
c.493C>G (p.Gln165Glu)
n.1194C>G
c.469-645C>G (n.469-645C>G)
c.313C>G (p.Gln105Glu)
c.682C>G (p.Gln228Glu)
c.505C>G (p.Gln169Glu)
c.502C>G (p.Gln168Glu)
c.334C>G (p.Gln112Glu)
 ClinVar
11g.67490352C>TCA381551581AIPc.659C>T
c.493C>T (p.Gln165Ter)
n.1194C>T
c.469-645C>T (n.469-645C>T)
c.313C>T (p.Gln105Ter)
c.682C>T (p.Gln228Ter)
c.505C>T (p.Gln169Ter)
c.502C>T (p.Gln168Ter)
c.334C>T (p.Gln112Ter)
 gnomAD v3 gnomAD v4
11g.67490352_67490354delinsAAACA2580084748AIPc.659_661delinsAAA
c.493_495delinsAAA (p.Gln165Lys)
n.1194_1196delinsAAA
c.469-645_469-643delinsAAA (n.469-645_469-643delinsAAA)
c.313_315delinsAAA (p.Gln105Lys)
c.682_684delinsAAA (p.Gln228Lys)
c.505_507delinsAAA (p.Gln169Lys)
c.502_504delinsAAA (p.Gln168Lys)
c.334_336delinsAAA (p.Gln112Lys)
 ClinVar
11g.67490353A>CCA381551583AIPc.660A>C
c.494A>C (p.Gln165Pro)
n.1195A>C
c.469-644A>C (n.469-644A>C)
c.314A>C (p.Gln105Pro)
c.683A>C (p.Gln228Pro)
c.506A>C (p.Gln169Pro)
c.503A>C (p.Gln168Pro)
c.335A>C (p.Gln112Pro)
11g.67490353A>GCA381551585AIPc.660A>G
c.494A>G (p.Gln165Arg)
n.1195A>G
c.469-644A>G (n.469-644A>G)
c.314A>G (p.Gln105Arg)
c.683A>G (p.Gln228Arg)
c.506A>G (p.Gln169Arg)
c.503A>G (p.Gln168Arg)
c.335A>G (p.Gln112Arg)
11g.67490353A>TCA381551586AIPc.660A>T
c.494A>T (p.Gln165Leu)
n.1195A>T
c.469-644A>T (n.469-644A>T)
c.314A>T (p.Gln105Leu)
c.683A>T (p.Gln228Leu)
c.506A>T (p.Gln169Leu)
c.503A>T (p.Gln168Leu)
c.335A>T (p.Gln112Leu)
11g.67490354G>ACA475509211AIPc.661G>A
c.495G>A (p.Gln165=)
n.1196G>A
c.469-643G>A (n.469-643G>A)
c.315G>A (p.Gln105=)
c.684G>A (p.Gln228=)
c.507G>A (p.Gln169=)
c.504G>A (p.Gln168=)
c.336G>A (p.Gln112=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67490354G>CCA381551589AIPc.661G>C
c.495G>C (p.Gln165His)
n.1196G>C
c.469-643G>C (n.469-643G>C)
c.315G>C (p.Gln105His)
c.684G>C (p.Gln228His)
c.507G>C (p.Gln169His)
c.504G>C (p.Gln168His)
c.336G>C (p.Gln112His)
11g.67490354G=CA1980172417AIPc.661G=
c.495G= (p.Gln165=)
n.1196G=
c.469-643G= (n.469-643G=)
c.315G= (p.Gln105=)
c.684G= (p.Gln228=)
c.507G= (p.Gln169=)
c.504G= (p.Gln168=)
c.336G= (p.Gln112=)
11g.67490354G>TCA381551592AIPc.661G>T
c.495G>T (p.Gln165His)
n.1196G>T
c.469-643G>T (n.469-643G>T)
c.315G>T (p.Gln105His)
c.684G>T (p.Gln228His)
c.507G>T (p.Gln169His)
c.504G>T (p.Gln168His)
c.336G>T (p.Gln112His)
11g.67490355C>ACA381551603AIPc.662C>A
c.496C>A (p.Gln166Lys)
n.1197C>A
c.469-642C>A (n.469-642C>A)
c.316C>A (p.Gln106Lys)
c.685C>A (p.Gln229Lys)
c.508C>A (p.Gln170Lys)
c.505C>A (p.Gln169Lys)
c.337C>A (p.Gln113Lys)
11g.67490355C=CA1980172418AIPc.662C=
c.496C= (p.Gln166=)
n.1197C=
c.469-642C= (n.469-642C=)
c.316C= (p.Gln106=)
c.685C= (p.Gln229=)
c.508C= (p.Gln170=)
c.505C= (p.Gln169=)
c.337C= (p.Gln113=)
11g.67490355C>GCA381551601AIPc.662C>G
c.496C>G (p.Gln166Glu)
n.1197C>G
c.469-642C>G (n.469-642C>G)
c.316C>G (p.Gln106Glu)
c.685C>G (p.Gln229Glu)
c.508C>G (p.Gln170Glu)
c.505C>G (p.Gln169Glu)
c.337C>G (p.Gln113Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67490355C>TCA381551597AIPc.662C>T
c.496C>T (p.Gln166Ter)
n.1197C>T
c.469-642C>T (n.469-642C>T)
c.316C>T (p.Gln106Ter)
c.685C>T (p.Gln229Ter)
c.508C>T (p.Gln170Ter)
c.505C>T (p.Gln169Ter)
c.337C>T (p.Gln113Ter)
 ClinVar dbSNP
11g.67490356A>CCA381551605AIPc.663A>C
c.497A>C (p.Gln166Pro)
n.1198A>C
c.469-641A>C (n.469-641A>C)
c.317A>C (p.Gln106Pro)
c.686A>C (p.Gln229Pro)
c.509A>C (p.Gln170Pro)
c.506A>C (p.Gln169Pro)
c.338A>C (p.Gln113Pro)
11g.67490356A>GCA381551611AIPc.663A>G
c.497A>G (p.Gln166Arg)
n.1198A>G
c.469-641A>G (n.469-641A>G)
c.317A>G (p.Gln106Arg)
c.686A>G (p.Gln229Arg)
c.509A>G (p.Gln170Arg)
c.506A>G (p.Gln169Arg)
c.338A>G (p.Gln113Arg)
11g.67490356A>TCA381551608AIPc.663A>T
c.497A>T (p.Gln166Leu)
n.1198A>T
c.469-641A>T (n.469-641A>T)
c.317A>T (p.Gln106Leu)
c.686A>T (p.Gln229Leu)
c.509A>T (p.Gln170Leu)
c.506A>T (p.Gln169Leu)
c.338A>T (p.Gln113Leu)
11g.67490357G>ACA475509212AIPc.664G>A
c.498G>A (p.Gln166=)
n.1199G>A
c.469-640G>A (n.469-640G>A)
c.318G>A (p.Gln106=)
c.687G>A (p.Gln229=)
c.510G>A (p.Gln170=)
c.507G>A (p.Gln169=)
c.339G>A (p.Gln113=)
11g.67490357G>CCA381551614AIPc.664G>C
c.498G>C (p.Gln166His)
n.1199G>C
c.469-640G>C (n.469-640G>C)
c.318G>C (p.Gln106His)
c.687G>C (p.Gln229His)
c.510G>C (p.Gln170His)
c.507G>C (p.Gln169His)
c.339G>C (p.Gln113His)
11g.67490357G>TCA381551615AIPc.664G>T
c.498G>T (p.Gln166His)
n.1199G>T
c.469-640G>T (n.469-640G>T)
c.318G>T (p.Gln106His)
c.687G>T (p.Gln229His)
c.510G>T (p.Gln170His)
c.507G>T (p.Gln169His)
c.339G>T (p.Gln113His)
 gnomAD v4
11g.67490358A=CA1980172419AIPc.665A=
c.499A= (p.Ile167=)
n.1200A=
c.469-639A= (n.469-639A=)
c.319A= (p.Ile107=)
c.688A= (p.Ile230=)
c.511A= (p.Ile171=)
c.508A= (p.Ile170=)
c.340A= (p.Ile114=)
11g.67490358A>CCA381551621AIPc.665A>C
c.499A>C (p.Ile167Leu)
n.1200A>C
c.469-639A>C (n.469-639A>C)
c.319A>C (p.Ile107Leu)
c.688A>C (p.Ile230Leu)
c.511A>C (p.Ile171Leu)
c.508A>C (p.Ile170Leu)
c.340A>C (p.Ile114Leu)
11g.67490358A>GCA381551622AIPc.665A>G
c.499A>G (p.Ile167Val)
n.1200A>G
c.469-639A>G (n.469-639A>G)
c.319A>G (p.Ile107Val)
c.688A>G (p.Ile230Val)
c.511A>G (p.Ile171Val)
c.508A>G (p.Ile170Val)
c.340A>G (p.Ile114Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490358A>TCA381551623AIPc.665A>T
c.499A>T (p.Ile167Phe)
n.1200A>T
c.469-639A>T (n.469-639A>T)
c.319A>T (p.Ile107Phe)
c.688A>T (p.Ile230Phe)
c.511A>T (p.Ile171Phe)
c.508A>T (p.Ile170Phe)
c.340A>T (p.Ile114Phe)
11g.67490359T>ACA381551626AIPc.666T>A
c.500T>A (p.Ile167Asn)
n.1201T>A
c.469-638T>A (n.469-638T>A)
c.320T>A (p.Ile107Asn)
c.689T>A (p.Ile230Asn)
c.512T>A (p.Ile171Asn)
c.509T>A (p.Ile170Asn)
c.341T>A (p.Ile114Asn)
11g.67490359T>CCA381551629AIPc.666T>C
c.500T>C (p.Ile167Thr)
n.1201T>C
c.469-638T>C (n.469-638T>C)
c.320T>C (p.Ile107Thr)
c.689T>C (p.Ile230Thr)
c.512T>C (p.Ile171Thr)
c.509T>C (p.Ile170Thr)
c.341T>C (p.Ile114Thr)
11g.67490359T>GCA381551638AIPc.666T>G
c.500T>G (p.Ile167Ser)
n.1201T>G
c.469-638T>G (n.469-638T>G)
c.320T>G (p.Ile107Ser)
c.689T>G (p.Ile230Ser)
c.512T>G (p.Ile171Ser)
c.509T>G (p.Ile170Ser)
c.341T>G (p.Ile114Ser)
11g.67490360C>ACA475509214AIPc.667C>A
c.501C>A (p.Ile167=)
n.1202C>A
c.469-637C>A (n.469-637C>A)
c.321C>A (p.Ile107=)
c.690C>A (p.Ile230=)
c.513C>A (p.Ile171=)
c.510C>A (p.Ile170=)
c.342C>A (p.Ile114=)
11g.67490360C>GCA381551639AIPc.667C>G
c.501C>G (p.Ile167Met)
n.1202C>G
c.469-637C>G (n.469-637C>G)
c.321C>G (p.Ile107Met)
c.690C>G (p.Ile230Met)
c.513C>G (p.Ile171Met)
c.510C>G (p.Ile170Met)
c.342C>G (p.Ile114Met)
11g.67490360C>TCA475509215AIPc.667C>T
c.501C>T (p.Ile167=)
n.1202C>T
c.469-637C>T (n.469-637C>T)
c.321C>T (p.Ile107=)
c.690C>T (p.Ile230=)
c.513C>T (p.Ile171=)
c.510C>T (p.Ile170=)
c.342C>T (p.Ile114=)
11g.67490361A=CA1980172420AIPc.668A=
c.502A= (p.Thr168=)
n.1203A=
c.469-636A= (n.469-636A=)
c.322A= (p.Thr108=)
c.691A= (p.Thr231=)
c.514A= (p.Thr172=)
c.511A= (p.Thr171=)
c.343A= (p.Thr115=)
11g.67490361A>CCA381551640AIPc.668A>C
c.502A>C (p.Thr168Pro)
n.1203A>C
c.469-636A>C (n.469-636A>C)
c.322A>C (p.Thr108Pro)
c.691A>C (p.Thr231Pro)
c.514A>C (p.Thr172Pro)
c.511A>C (p.Thr171Pro)
c.343A>C (p.Thr115Pro)
11g.67490361A>GCA381551641AIPc.668A>G
c.502A>G (p.Thr168Ala)
n.1203A>G
c.469-636A>G (n.469-636A>G)
c.322A>G (p.Thr108Ala)
c.691A>G (p.Thr231Ala)
c.514A>G (p.Thr172Ala)
c.511A>G (p.Thr171Ala)
c.343A>G (p.Thr115Ala)
 COSMIC
11g.67490361A>TCA6140910AIPc.668A>T
c.502A>T (p.Thr168Ser)
n.1203A>T
c.469-636A>T (n.469-636A>T)
c.322A>T (p.Thr108Ser)
c.691A>T (p.Thr231Ser)
c.514A>T (p.Thr172Ser)
c.511A>T (p.Thr171Ser)
c.343A>T (p.Thr115Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490362C>ACA381551648AIPc.669C>A
c.503C>A (p.Thr168Lys)
n.1204C>A
c.469-635C>A (n.469-635C>A)
c.323C>A (p.Thr108Lys)
c.692C>A (p.Thr231Lys)
c.515C>A (p.Thr172Lys)
c.512C>A (p.Thr171Lys)
c.344C>A (p.Thr115Lys)
11g.67490362C=CA1980172421AIPc.669C=
c.503C= (p.Thr168=)
n.1204C=
c.469-635C= (n.469-635C=)
c.323C= (p.Thr108=)
c.692C= (p.Thr231=)
c.515C= (p.Thr172=)
c.512C= (p.Thr171=)
c.344C= (p.Thr115=)
11g.67490362C>GCA381551646AIPc.669C>G
c.503C>G (p.Thr168Arg)
n.1204C>G
c.469-635C>G (n.469-635C>G)
c.323C>G (p.Thr108Arg)
c.692C>G (p.Thr231Arg)
c.515C>G (p.Thr172Arg)
c.512C>G (p.Thr171Arg)
c.344C>G (p.Thr115Arg)
11g.67490362C>TCA6140911AIPc.669C>T
c.503C>T (p.Thr168Met)
n.1204C>T
c.469-635C>T (n.469-635C>T)
c.323C>T (p.Thr108Met)
c.692C>T (p.Thr231Met)
c.515C>T (p.Thr172Met)
c.512C>T (p.Thr171Met)
c.344C>T (p.Thr115Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.67490365_67490367dupCA939069734AIPc.672_674dup
c.506_508dup (p.Pro169_Leu170insPro)
n.1207_1209dup
c.469-632_469-630dup (n.469-632_469-630dup)
c.326_328dup (p.Pro109_Leu110insPro)
c.695_697dup (p.Pro232_Leu233insPro)
c.518_520dup (p.Pro173_Leu174insPro)
c.515_517dup (p.Pro172_Leu173insPro)
c.347_349dup (p.Pro116_Leu117insPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.67490363G>ACA6140912AIPc.670G>A
c.504G>A (p.Thr168=)
n.1205G>A
c.469-634G>A (n.469-634G>A)
c.324G>A (p.Thr108=)
c.693G>A (p.Thr231=)
c.516G>A (p.Thr172=)
c.513G>A (p.Thr171=)
c.345G>A (p.Thr115=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490363G>CCA475509219AIPc.670G>C
c.504G>C (p.Thr168=)
n.1205G>C
c.469-634G>C (n.469-634G>C)
c.324G>C (p.Thr108=)
c.693G>C (p.Thr231=)
c.516G>C (p.Thr172=)
c.513G>C (p.Thr171=)
c.345G>C (p.Thr115=)
11g.67490363G=CA1980172422AIPc.670G=
c.504G= (p.Thr168=)
n.1205G=
c.469-634G= (n.469-634G=)
c.324G= (p.Thr108=)
c.693G= (p.Thr231=)
c.516G= (p.Thr172=)
c.513G= (p.Thr171=)
c.345G= (p.Thr115=)
11g.67490363G>TCA475509220AIPc.670G>T
c.504G>T (p.Thr168=)
n.1205G>T
c.469-634G>T (n.469-634G>T)
c.324G>T (p.Thr108=)
c.693G>T (p.Thr231=)
c.516G>T (p.Thr172=)
c.513G>T (p.Thr171=)
c.345G>T (p.Thr115=)
 gnomAD v4
11g.67490364C>ACA381551650AIPc.671C>A
c.505C>A (p.Pro169Thr)
n.1206C>A
c.469-633C>A (n.469-633C>A)
c.325C>A (p.Pro109Thr)
c.694C>A (p.Pro232Thr)
c.517C>A (p.Pro173Thr)
c.514C>A (p.Pro172Thr)
c.346C>A (p.Pro116Thr)
11g.67490364C>GCA381551651AIPc.671C>G
c.505C>G (p.Pro169Ala)
n.1206C>G
c.469-633C>G (n.469-633C>G)
c.325C>G (p.Pro109Ala)
c.694C>G (p.Pro232Ala)
c.517C>G (p.Pro173Ala)
c.514C>G (p.Pro172Ala)
c.346C>G (p.Pro116Ala)
11g.67490364C>TCA381551652AIPc.671C>T
c.505C>T (p.Pro169Ser)
n.1206C>T
c.469-633C>T (n.469-633C>T)
c.325C>T (p.Pro109Ser)
c.694C>T (p.Pro232Ser)
c.517C>T (p.Pro173Ser)
c.514C>T (p.Pro172Ser)
c.346C>T (p.Pro116Ser)
 ClinVar dbSNP gnomAD v4
11g.67490365C>ACA381551655AIPc.672C>A
c.506C>A (p.Pro169Gln)
n.1207C>A
c.469-632C>A (n.469-632C>A)
c.326C>A (p.Pro109Gln)
c.695C>A (p.Pro232Gln)
c.518C>A (p.Pro173Gln)
c.515C>A (p.Pro172Gln)
c.347C>A (p.Pro116Gln)
 gnomAD v4
11g.67490365C=CA1980172423AIPc.672C=
c.506C= (p.Pro169=)
n.1207C=
c.469-632C= (n.469-632C=)
c.326C= (p.Pro109=)
c.695C= (p.Pro232=)
c.518C= (p.Pro173=)
c.515C= (p.Pro172=)
c.347C= (p.Pro116=)
11g.67490365C>GCA381551657AIPc.672C>G
c.506C>G (p.Pro169Arg)
n.1207C>G
c.469-632C>G (n.469-632C>G)
c.326C>G (p.Pro109Arg)
c.695C>G (p.Pro232Arg)
c.518C>G (p.Pro173Arg)
c.515C>G (p.Pro172Arg)
c.347C>G (p.Pro116Arg)
11g.67490365C>TCA6140913AIPc.672C>T
c.506C>T (p.Pro169Leu)
n.1207C>T
c.469-632C>T (n.469-632C>T)
c.326C>T (p.Pro109Leu)
c.695C>T (p.Pro232Leu)
c.518C>T (p.Pro173Leu)
c.515C>T (p.Pro172Leu)
c.347C>T (p.Pro116Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.67490366G>ACA6140914AIPc.673G>A
c.507G>A (p.Pro169=)
n.1208G>A
c.469-631G>A (n.469-631G>A)
c.327G>A (p.Pro109=)
c.696G>A (p.Pro232=)
c.519G>A (p.Pro173=)
c.516G>A (p.Pro172=)
c.348G>A (p.Pro116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490366G>CCA475509221AIPc.673G>C
c.507G>C (p.Pro169=)
n.1208G>C
c.469-631G>C (n.469-631G>C)
c.327G>C (p.Pro109=)
c.696G>C (p.Pro232=)
c.519G>C (p.Pro173=)
c.516G>C (p.Pro172=)
c.348G>C (p.Pro116=)
 ClinVar dbSNP
11g.67490366G=CA1980172424AIPc.673G=
c.507G= (p.Pro169=)
n.1208G=
c.469-631G= (n.469-631G=)
c.327G= (p.Pro109=)
c.696G= (p.Pro232=)
c.519G= (p.Pro173=)
c.516G= (p.Pro172=)
c.348G= (p.Pro116=)
11g.67490366G>TCA475509222AIPc.673G>T
c.507G>T (p.Pro169=)
n.1208G>T
c.469-631G>T (n.469-631G>T)
c.327G>T (p.Pro109=)
c.696G>T (p.Pro232=)
c.519G>T (p.Pro173=)
c.516G>T (p.Pro172=)
c.348G>T (p.Pro116=)
11g.67490367C>ACA381551660AIPc.674C>A
c.508C>A (p.Leu170Met)
n.1209C>A
c.469-630C>A (n.469-630C>A)
c.328C>A (p.Leu110Met)
c.697C>A (p.Leu233Met)
c.520C>A (p.Leu174Met)
c.517C>A (p.Leu173Met)
c.349C>A (p.Leu117Met)
11g.67490367C=CA1980172425AIPc.674C=
c.508C= (p.Leu170=)
n.1209C=
c.469-630C= (n.469-630C=)
c.328C= (p.Leu110=)
c.697C= (p.Leu233=)
c.520C= (p.Leu174=)
c.517C= (p.Leu173=)
c.349C= (p.Leu117=)
11g.67490367C>GCA381551662AIPc.674C>G
c.508C>G (p.Leu170Val)
n.1209C>G
c.469-630C>G (n.469-630C>G)
c.328C>G (p.Leu110Val)
c.697C>G (p.Leu233Val)
c.520C>G (p.Leu174Val)
c.517C>G (p.Leu173Val)
c.349C>G (p.Leu117Val)
11g.67490367C>TCA475509223AIPc.674C>T
c.508C>T (p.Leu170=)
n.1209C>T
c.469-630C>T (n.469-630C>T)
c.328C>T (p.Leu110=)
c.697C>T (p.Leu233=)
c.520C>T (p.Leu174=)
c.517C>T (p.Leu173=)
c.349C>T (p.Leu117=)
 ClinVar dbSNP gnomAD v4
11g.67490368T>ACA381551664AIPc.675T>A
c.509T>A (p.Leu170Gln)
n.1210T>A
c.469-629T>A (n.469-629T>A)
c.329T>A (p.Leu110Gln)
c.698T>A (p.Leu233Gln)
c.521T>A (p.Leu174Gln)
c.518T>A (p.Leu173Gln)
c.350T>A (p.Leu117Gln)
11g.67490368T>CCA381551665AIPc.675T>C
c.509T>C (p.Leu170Pro)
n.1210T>C
c.469-629T>C (n.469-629T>C)
c.329T>C (p.Leu110Pro)
c.698T>C (p.Leu233Pro)
c.521T>C (p.Leu174Pro)
c.518T>C (p.Leu173Pro)
c.350T>C (p.Leu117Pro)
 ClinVar
11g.67490368T>GCA381551667AIPc.675T>G
c.509T>G (p.Leu170Arg)
n.1210T>G
c.469-629T>G (n.469-629T>G)
c.329T>G (p.Leu110Arg)
c.698T>G (p.Leu233Arg)
c.521T>G (p.Leu174Arg)
c.518T>G (p.Leu173Arg)
c.350T>G (p.Leu117Arg)
11g.67490369G>ACA475509225AIPc.676G>A
c.510G>A (p.Leu170=)
n.1211G>A
c.469-628G>A (n.469-628G>A)
c.330G>A (p.Leu110=)
c.699G>A (p.Leu233=)
c.522G>A (p.Leu174=)
c.519G>A (p.Leu173=)
c.351G>A (p.Leu117=)
 dbSNP gnomAD v2
11g.67490369G>CCA475509226AIPc.676G>C
c.510G>C (p.Leu170=)
n.1211G>C
c.469-628G>C (n.469-628G>C)
c.330G>C (p.Leu110=)
c.699G>C (p.Leu233=)
c.522G>C (p.Leu174=)
c.519G>C (p.Leu173=)
c.351G>C (p.Leu117=)
11g.67490369G=CA1980172426AIPc.676G=
c.510G= (p.Leu170=)
n.1211G=
c.469-628G= (n.469-628G=)
c.330G= (p.Leu110=)
c.699G= (p.Leu233=)
c.522G= (p.Leu174=)
c.519G= (p.Leu173=)
c.351G= (p.Leu117=)
11g.67490369G>TCA475509227AIPc.676G>T
c.510G>T (p.Leu170=)
n.1211G>T
c.469-628G>T (n.469-628G>T)
c.330G>T (p.Leu110=)
c.699G>T (p.Leu233=)
c.522G>T (p.Leu174=)
c.519G>T (p.Leu173=)
c.351G>T (p.Leu117=)
11g.67490370C>ACA381551669AIPc.677C>A
c.511C>A (p.Leu171Met)
n.1212C>A
c.469-627C>A (n.469-627C>A)
c.331C>A (p.Leu111Met)
c.700C>A (p.Leu234Met)
c.523C>A (p.Leu175Met)
c.520C>A (p.Leu174Met)
c.352C>A (p.Leu118Met)
 dbSNP
11g.67490370C=CA1980172427AIPc.677C=
c.511C= (p.Leu171=)
n.1212C=
c.469-627C= (n.469-627C=)
c.331C= (p.Leu111=)
c.700C= (p.Leu234=)
c.523C= (p.Leu175=)
c.520C= (p.Leu174=)
c.352C= (p.Leu118=)
11g.67490370C>GCA381551671AIPc.677C>G
c.511C>G (p.Leu171Val)
n.1212C>G
c.469-627C>G (n.469-627C>G)
c.331C>G (p.Leu111Val)
c.700C>G (p.Leu234Val)
c.523C>G (p.Leu175Val)
c.520C>G (p.Leu174Val)
c.352C>G (p.Leu118Val)
11g.67490370C>TCA475509228AIPc.677C>T
c.511C>T (p.Leu171=)
n.1212C>T
c.469-627C>T (n.469-627C>T)
c.331C>T (p.Leu111=)
c.700C>T (p.Leu234=)
c.523C>T (p.Leu175=)
c.520C>T (p.Leu174=)
c.352C>T (p.Leu118=)
11g.67490371T>ACA381551673AIPc.678T>A
c.512T>A (p.Leu171Gln)
n.1213T>A
c.469-626T>A (n.469-626T>A)
c.332T>A (p.Leu111Gln)
c.701T>A (p.Leu234Gln)
c.524T>A (p.Leu175Gln)
c.521T>A (p.Leu174Gln)
c.353T>A (p.Leu118Gln)
11g.67490371T>CCA381551677AIPc.678T>C
c.512T>C (p.Leu171Pro)
n.1213T>C
c.469-626T>C (n.469-626T>C)
c.332T>C (p.Leu111Pro)
c.701T>C (p.Leu234Pro)
c.524T>C (p.Leu175Pro)
c.521T>C (p.Leu174Pro)
c.353T>C (p.Leu118Pro)
11g.67490371T>GCA381551675AIPc.678T>G
c.512T>G (p.Leu171Arg)
n.1213T>G
c.469-626T>G (n.469-626T>G)
c.332T>G (p.Leu111Arg)
c.701T>G (p.Leu234Arg)
c.524T>G (p.Leu175Arg)
c.521T>G (p.Leu174Arg)
c.353T>G (p.Leu118Arg)
11g.67490372G>ACA475509234AIPc.679G>A
c.513G>A (p.Leu171=)
n.1214G>A
c.469-625G>A (n.469-625G>A)
c.333G>A (p.Leu111=)
c.702G>A (p.Leu234=)
c.525G>A (p.Leu175=)
c.522G>A (p.Leu174=)
c.354G>A (p.Leu118=)
11g.67490372G>CCA475509232AIPc.679G>C
c.513G>C (p.Leu171=)
n.1214G>C
c.469-625G>C (n.469-625G>C)
c.333G>C (p.Leu111=)
c.702G>C (p.Leu234=)
c.525G>C (p.Leu175=)
c.522G>C (p.Leu174=)
c.354G>C (p.Leu118=)
11g.67490372G>TCA475509230AIPc.679G>T
c.513G>T (p.Leu171=)
n.1214G>T
c.469-625G>T (n.469-625G>T)
c.333G>T (p.Leu111=)
c.702G>T (p.Leu234=)
c.525G>T (p.Leu175=)
c.522G>T (p.Leu174=)
c.354G>T (p.Leu118=)
11g.67490373C>ACA6140915AIPc.680C>A
c.514C>A (p.Leu172Ile)
n.1215C>A
c.469-624C>A (n.469-624C>A)
c.334C>A (p.Leu112Ile)
c.703C>A (p.Leu235Ile)
c.526C>A (p.Leu176Ile)
c.523C>A (p.Leu175Ile)
c.355C>A (p.Leu119Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490373C=CA1980172428AIPc.680C=
c.514C= (p.Leu172=)
n.1215C=
c.469-624C= (n.469-624C=)
c.334C= (p.Leu112=)
c.703C= (p.Leu235=)
c.526C= (p.Leu176=)
c.523C= (p.Leu175=)
c.355C= (p.Leu119=)
11g.67490373C>GCA381551681AIPc.680C>G
c.514C>G (p.Leu172Val)
n.1215C>G
c.469-624C>G (n.469-624C>G)
c.334C>G (p.Leu112Val)
c.703C>G (p.Leu235Val)
c.526C>G (p.Leu176Val)
c.523C>G (p.Leu175Val)
c.355C>G (p.Leu119Val)
11g.67490373C>TCA224165268AIPc.680C>T
c.514C>T (p.Leu172Phe)
n.1215C>T
c.469-624C>T (n.469-624C>T)
c.334C>T (p.Leu112Phe)
c.703C>T (p.Leu235Phe)
c.526C>T (p.Leu176Phe)
c.523C>T (p.Leu175Phe)
c.355C>T (p.Leu119Phe)
 dbSNP COSMIC
11g.67490374T>ACA381551684AIPc.681T>A
c.515T>A (p.Leu172His)
n.1216T>A
c.469-623T>A (n.469-623T>A)
c.335T>A (p.Leu112His)
c.704T>A (p.Leu235His)
c.527T>A (p.Leu176His)
c.524T>A (p.Leu175His)
c.356T>A (p.Leu119His)
11g.67490374T>CCA381551686AIPc.681T>C
c.515T>C (p.Leu172Pro)
n.1216T>C
c.469-623T>C (n.469-623T>C)
c.335T>C (p.Leu112Pro)
c.704T>C (p.Leu235Pro)
c.527T>C (p.Leu176Pro)
c.524T>C (p.Leu175Pro)
c.356T>C (p.Leu119Pro)
11g.67490374T>GCA381551687AIPc.681T>G
c.515T>G (p.Leu172Arg)
n.1216T>G
c.469-623T>G (n.469-623T>G)
c.335T>G (p.Leu112Arg)
c.704T>G (p.Leu235Arg)
c.527T>G (p.Leu176Arg)
c.524T>G (p.Leu175Arg)
c.356T>G (p.Leu119Arg)
11g.67490375C>ACA475509235AIPc.682C>A
c.516C>A (p.Leu172=)
n.1217C>A
c.469-622C>A (n.469-622C>A)
c.336C>A (p.Leu112=)
c.705C>A (p.Leu235=)
c.528C>A (p.Leu176=)
c.525C>A (p.Leu175=)
c.357C>A (p.Leu119=)
11g.67490375C=CA1980172429AIPc.682C=
c.516C= (p.Leu172=)
n.1217C=
c.469-622C= (n.469-622C=)
c.336C= (p.Leu112=)
c.705C= (p.Leu235=)
c.528C= (p.Leu176=)
c.525C= (p.Leu175=)
c.357C= (p.Leu119=)
11g.67490375C>GCA475509236AIPc.682C>G
c.516C>G (p.Leu172=)
n.1217C>G
c.469-622C>G (n.469-622C>G)
c.336C>G (p.Leu112=)
c.705C>G (p.Leu235=)
c.528C>G (p.Leu176=)
c.525C>G (p.Leu175=)
c.357C>G (p.Leu119=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.67490375C>TCA475509237AIPc.682C>T
c.516C>T (p.Leu172=)
n.1217C>T
c.469-622C>T (n.469-622C>T)
c.336C>T (p.Leu112=)
c.705C>T (p.Leu235=)
c.528C>T (p.Leu176=)
c.525C>T (p.Leu175=)
c.357C>T (p.Leu119=)
 ClinVar dbSNP
11g.67490376A>CCA381551690AIPc.683A>C
c.517A>C (p.Asn173His)
n.1218A>C
c.469-621A>C (n.469-621A>C)
c.337A>C (p.Asn113His)
c.706A>C (p.Asn236His)
c.529A>C (p.Asn177His)
c.526A>C (p.Asn176His)
c.358A>C (p.Asn120His)
11g.67490376A>GCA381551692AIPc.683A>G
c.517A>G (p.Asn173Asp)
n.1218A>G
c.469-621A>G (n.469-621A>G)
c.337A>G (p.Asn113Asp)
c.706A>G (p.Asn236Asp)
c.529A>G (p.Asn177Asp)
c.526A>G (p.Asn176Asp)
c.358A>G (p.Asn120Asp)
11g.67490376A>TCA381551694AIPc.683A>T
c.517A>T (p.Asn173Tyr)
n.1218A>T
c.469-621A>T (n.469-621A>T)
c.337A>T (p.Asn113Tyr)
c.706A>T (p.Asn236Tyr)
c.529A>T (p.Asn177Tyr)
c.526A>T (p.Asn176Tyr)
c.358A>T (p.Asn120Tyr)
11g.67490377A=CA1980172430AIPc.684A=
c.518A= (p.Asn173=)
n.1219A=
c.469-620A= (n.469-620A=)
c.338A= (p.Asn113=)
c.707A= (p.Asn236=)
c.530A= (p.Asn177=)
c.527A= (p.Asn176=)
c.359A= (p.Asn120=)
11g.67490377A>CCA381551697AIPc.684A>C
c.518A>C (p.Asn173Thr)
n.1219A>C
c.469-620A>C (n.469-620A>C)
c.338A>C (p.Asn113Thr)
c.707A>C (p.Asn236Thr)
c.530A>C (p.Asn177Thr)
c.527A>C (p.Asn176Thr)
c.359A>C (p.Asn120Thr)
11g.67490377A>GCA381551698AIPc.684A>G
c.518A>G (p.Asn173Ser)
n.1219A>G
c.469-620A>G (n.469-620A>G)
c.338A>G (p.Asn113Ser)
c.707A>G (p.Asn236Ser)
c.530A>G (p.Asn177Ser)
c.527A>G (p.Asn176Ser)
c.359A>G (p.Asn120Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67490377A>TCA381551700AIPc.684A>T
c.518A>T (p.Asn173Ile)
n.1219A>T
c.469-620A>T (n.469-620A>T)
c.338A>T (p.Asn113Ile)
c.707A>T (p.Asn236Ile)
c.530A>T (p.Asn177Ile)
c.527A>T (p.Asn176Ile)
c.359A>T (p.Asn120Ile)
11g.67490378C>ACA381551701AIPc.685C>A
c.519C>A (p.Asn173Lys)
n.1220C>A
c.469-619C>A (n.469-619C>A)
c.339C>A (p.Asn113Lys)
c.708C>A (p.Asn236Lys)
c.531C>A (p.Asn177Lys)
c.528C>A (p.Asn176Lys)
c.360C>A (p.Asn120Lys)
11g.67490378C=CA1980172431AIPc.685C=
c.519C= (p.Asn173=)
n.1220C=
c.469-619C= (n.469-619C=)
c.339C= (p.Asn113=)
c.708C= (p.Asn236=)
c.531C= (p.Asn177=)
c.528C= (p.Asn176=)
c.360C= (p.Asn120=)
11g.67490378C>GCA381551703AIPc.685C>G
c.519C>G (p.Asn173Lys)
n.1220C>G
c.469-619C>G (n.469-619C>G)
c.339C>G (p.Asn113Lys)
c.708C>G (p.Asn236Lys)
c.531C>G (p.Asn177Lys)
c.528C>G (p.Asn176Lys)
c.360C>G (p.Asn120Lys)
11g.67490378C>TCA475509239AIPc.685C>T
c.519C>T (p.Asn173=)
n.1220C>T
c.469-619C>T (n.469-619C>T)
c.339C>T (p.Asn113=)
c.708C>T (p.Asn236=)
c.531C>T (p.Asn177=)
c.528C>T (p.Asn176=)
c.360C>T (p.Asn120=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67490379T>ACA381551704AIPc.686T>A
c.520T>A (p.Tyr174Asn)
n.1221T>A
c.469-618T>A (n.469-618T>A)
c.340T>A (p.Tyr114Asn)
c.709T>A (p.Tyr237Asn)
c.532T>A (p.Tyr178Asn)
c.529T>A (p.Tyr177Asn)
c.361T>A (p.Tyr121Asn)
11g.67490379T>CCA381551705AIPc.686T>C
c.520T>C (p.Tyr174His)
n.1221T>C
c.469-618T>C (n.469-618T>C)
c.340T>C (p.Tyr114His)
c.709T>C (p.Tyr237His)
c.532T>C (p.Tyr178His)
c.529T>C (p.Tyr177His)
c.361T>C (p.Tyr121His)
11g.67490379T>GCA381551707AIPc.686T>G
c.520T>G (p.Tyr174Asp)
n.1221T>G
c.469-618T>G (n.469-618T>G)
c.340T>G (p.Tyr114Asp)
c.709T>G (p.Tyr237Asp)
c.532T>G (p.Tyr178Asp)
c.529T>G (p.Tyr177Asp)
c.361T>G (p.Tyr121Asp)
11g.67490380A=CA1980172432AIPc.687A=
c.521A= (p.Tyr174=)
n.1222A=
c.469-617A= (n.469-617A=)
c.341A= (p.Tyr114=)
c.710A= (p.Tyr237=)
c.533A= (p.Tyr178=)
c.530A= (p.Tyr177=)
c.362A= (p.Tyr121=)
11g.67490380A>CCA381551710AIPc.687A>C
c.521A>C (p.Tyr174Ser)
n.1222A>C
c.469-617A>C (n.469-617A>C)
c.341A>C (p.Tyr114Ser)
c.710A>C (p.Tyr237Ser)
c.533A>C (p.Tyr178Ser)
c.530A>C (p.Tyr177Ser)
c.362A>C (p.Tyr121Ser)
11g.67490380A>GCA381551712AIPc.687A>G
c.521A>G (p.Tyr174Cys)
n.1222A>G
c.469-617A>G (n.469-617A>G)
c.341A>G (p.Tyr114Cys)
c.710A>G (p.Tyr237Cys)
c.533A>G (p.Tyr178Cys)
c.530A>G (p.Tyr177Cys)
c.362A>G (p.Tyr121Cys)
 ClinVar dbSNP gnomAD v4
11g.67490380A>TCA381551713AIPc.687A>T
c.521A>T (p.Tyr174Phe)
n.1222A>T
c.469-617A>T (n.469-617A>T)
c.341A>T (p.Tyr114Phe)
c.710A>T (p.Tyr237Phe)
c.533A>T (p.Tyr178Phe)
c.530A>T (p.Tyr177Phe)
c.362A>T (p.Tyr121Phe)
 COSMIC
11g.67490381C>ACA381551716AIPc.688C>A
c.522C>A (p.Tyr174Ter)
n.1223C>A
c.469-616C>A (n.469-616C>A)
c.342C>A (p.Tyr114Ter)
c.711C>A (p.Tyr237Ter)
c.534C>A (p.Tyr178Ter)
c.531C>A (p.Tyr177Ter)
c.363C>A (p.Tyr121Ter)
11g.67490381C=CA1980172433AIPc.688C=
c.522C= (p.Tyr174=)
n.1223C=
c.469-616C= (n.469-616C=)
c.342C= (p.Tyr114=)
c.711C= (p.Tyr237=)
c.534C= (p.Tyr178=)
c.531C= (p.Tyr177=)
c.363C= (p.Tyr121=)
11g.67490381C>GCA381551717AIPc.688C>G
c.522C>G (p.Tyr174Ter)
n.1223C>G
c.469-616C>G (n.469-616C>G)
c.342C>G (p.Tyr114Ter)
c.711C>G (p.Tyr237Ter)
c.534C>G (p.Tyr178Ter)
c.531C>G (p.Tyr177Ter)
c.363C>G (p.Tyr121Ter)
11g.67490381C>TCA6140916AIPc.688C>T
c.522C>T (p.Tyr174=)
n.1223C>T
c.469-616C>T (n.469-616C>T)
c.342C>T (p.Tyr114=)
c.711C>T (p.Tyr237=)
c.534C>T (p.Tyr178=)
c.531C>T (p.Tyr177=)
c.363C>T (p.Tyr121=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490382T>ACA381551719AIPc.689T>A
c.523T>A (p.Cys175Ser)
n.1224T>A
c.469-615T>A (n.469-615T>A)
c.343T>A (p.Cys115Ser)
c.712T>A (p.Cys238Ser)
c.535T>A (p.Cys179Ser)
c.532T>A (p.Cys178Ser)
c.364T>A (p.Cys122Ser)
11g.67490382T>CCA224165278AIPc.689T>C
c.523T>C (p.Cys175Arg)
n.1224T>C
c.469-615T>C (n.469-615T>C)
c.343T>C (p.Cys115Arg)
c.712T>C (p.Cys238Arg)
c.535T>C (p.Cys179Arg)
c.532T>C (p.Cys178Arg)
c.364T>C (p.Cys122Arg)
 dbSNP
11g.67490382T>GCA381551721AIPc.689T>G
c.523T>G (p.Cys175Gly)
n.1224T>G
c.469-615T>G (n.469-615T>G)
c.343T>G (p.Cys115Gly)
c.712T>G (p.Cys238Gly)
c.535T>G (p.Cys179Gly)
c.532T>G (p.Cys178Gly)
c.364T>G (p.Cys122Gly)
11g.67490382T=CA1980172434AIPc.689T=
c.523T= (p.Cys175=)
n.1224T=
c.469-615T= (n.469-615T=)
c.343T= (p.Cys115=)
c.712T= (p.Cys238=)
c.535T= (p.Cys179=)
c.532T= (p.Cys178=)
c.364T= (p.Cys122=)
11g.67490383G>ACA344155AIPc.690G>A
c.524G>A (p.Cys175Tyr)
n.1225G>A
c.469-614G>A (n.469-614G>A)
c.344G>A (p.Cys115Tyr)
c.713G>A (p.Cys238Tyr)
c.536G>A (p.Cys179Tyr)
c.533G>A (p.Cys178Tyr)
c.365G>A (p.Cys122Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490383G>CCA381551727AIPc.690G>C
c.524G>C (p.Cys175Ser)
n.1225G>C
c.469-614G>C (n.469-614G>C)
c.344G>C (p.Cys115Ser)
c.713G>C (p.Cys238Ser)
c.536G>C (p.Cys179Ser)
c.533G>C (p.Cys178Ser)
c.365G>C (p.Cys122Ser)
11g.67490383G=CA1980172435AIPc.690G=
c.524G= (p.Cys175=)
n.1225G=
c.469-614G= (n.469-614G=)
c.344G= (p.Cys115=)
c.713G= (p.Cys238=)
c.536G= (p.Cys179=)
c.533G= (p.Cys178=)
c.365G= (p.Cys122=)
11g.67490383G>TCA381551725AIPc.690G>T
c.524G>T (p.Cys175Phe)
n.1225G>T
c.469-614G>T (n.469-614G>T)
c.344G>T (p.Cys115Phe)
c.713G>T (p.Cys238Phe)
c.536G>T (p.Cys179Phe)
c.533G>T (p.Cys178Phe)
c.365G>T (p.Cys122Phe)
 gnomAD v4
11g.67490384C>ACA381551729AIPc.691C>A
c.525C>A (p.Cys175Ter)
n.1226C>A
c.469-613C>A (n.469-613C>A)
c.345C>A (p.Cys115Ter)
c.714C>A (p.Cys238Ter)
c.537C>A (p.Cys179Ter)
c.534C>A (p.Cys178Ter)
c.366C>A (p.Cys122Ter)
 dbSNP
11g.67490384C=CA1980172436AIPc.691C=
c.525C= (p.Cys175=)
n.1226C=
c.469-613C= (n.469-613C=)
c.345C= (p.Cys115=)
c.714C= (p.Cys238=)
c.537C= (p.Cys179=)
c.534C= (p.Cys178=)
c.366C= (p.Cys122=)
11g.67490384C>GCA381551730AIPc.691C>G
c.525C>G (p.Cys175Trp)
n.1226C>G
c.469-613C>G (n.469-613C>G)
c.345C>G (p.Cys115Trp)
c.714C>G (p.Cys238Trp)
c.537C>G (p.Cys179Trp)
c.534C>G (p.Cys178Trp)
c.366C>G (p.Cys122Trp)
11g.67490384C>TCA344159AIPc.691C>T
c.525C>T (p.Cys175=)
n.1226C>T
c.469-613C>T (n.469-613C>T)
c.345C>T (p.Cys115=)
c.714C>T (p.Cys238=)
c.537C>T (p.Cys179=)
c.534C>T (p.Cys178=)
c.366C>T (p.Cys122=)
 ClinVar dbSNP gnomAD v4
11g.67490385C>ACA381551732AIPc.692C>A
c.526C>A (p.Gln176Lys)
n.1227C>A
c.469-612C>A (n.469-612C>A)
c.346C>A (p.Gln116Lys)
c.715C>A (p.Gln239Lys)
c.538C>A (p.Gln180Lys)
c.535C>A (p.Gln179Lys)
c.367C>A (p.Gln123Lys)
11g.67490385C=CA1980172437AIPc.692C=
c.526C= (p.Gln176=)
n.1227C=
c.469-612C= (n.469-612C=)
c.346C= (p.Gln116=)
c.715C= (p.Gln239=)
c.538C= (p.Gln180=)
c.535C= (p.Gln179=)
c.367C= (p.Gln123=)
11g.67490385C>GCA381551733AIPc.692C>G
c.526C>G (p.Gln176Glu)
n.1227C>G
c.469-612C>G (n.469-612C>G)
c.346C>G (p.Gln116Glu)
c.715C>G (p.Gln239Glu)
c.538C>G (p.Gln180Glu)
c.535C>G (p.Gln179Glu)
c.367C>G (p.Gln123Glu)
11g.67490385C>TCA344163AIPc.692C>T
c.526C>T (p.Gln176Ter)
n.1227C>T
c.469-612C>T (n.469-612C>T)
c.346C>T (p.Gln116Ter)
c.715C>T (p.Gln239Ter)
c.538C>T (p.Gln180Ter)
c.535C>T (p.Gln179Ter)
c.367C>T (p.Gln123Ter)
 ClinVar dbSNP gnomAD v4
11g.67490386A=CA1980172438AIPc.693A=
c.527A= (p.Gln176=)
n.1228A=
c.469-611A= (n.469-611A=)
c.347A= (p.Gln116=)
c.716A= (p.Gln239=)
c.539A= (p.Gln180=)
c.536A= (p.Gln179=)
c.368A= (p.Gln123=)
11g.67490386A>CCA381551739AIPc.693A>C
c.527A>C (p.Gln176Pro)
n.1228A>C
c.469-611A>C (n.469-611A>C)
c.347A>C (p.Gln116Pro)
c.716A>C (p.Gln239Pro)
c.539A>C (p.Gln180Pro)
c.536A>C (p.Gln179Pro)
c.368A>C (p.Gln123Pro)
11g.67490386A>GCA6140917AIPc.693A>G
c.527A>G (p.Gln176Arg)
n.1228A>G
c.469-611A>G (n.469-611A>G)
c.347A>G (p.Gln116Arg)
c.716A>G (p.Gln239Arg)
c.539A>G (p.Gln180Arg)
c.536A>G (p.Gln179Arg)
c.368A>G (p.Gln123Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490386A>TCA381551737AIPc.693A>T
c.527A>T (p.Gln176Leu)
n.1228A>T
c.469-611A>T (n.469-611A>T)
c.347A>T (p.Gln116Leu)
c.716A>T (p.Gln239Leu)
c.539A>T (p.Gln180Leu)
c.536A>T (p.Gln179Leu)
c.368A>T (p.Gln123Leu)
11g.67490387G>ACA475509241AIPc.694G>A
c.528G>A (p.Gln176=)
n.1229G>A
c.469-610G>A (n.469-610G>A)
c.348G>A (p.Gln116=)
c.717G>A (p.Gln239=)
c.540G>A (p.Gln180=)
c.537G>A (p.Gln179=)
c.369G>A (p.Gln123=)
 ClinVar
11g.67490387G>CCA381551741AIPc.694G>C
c.528G>C (p.Gln176His)
n.1229G>C
c.469-610G>C (n.469-610G>C)
c.348G>C (p.Gln116His)
c.717G>C (p.Gln239His)
c.540G>C (p.Gln180His)
c.537G>C (p.Gln179His)
c.369G>C (p.Gln123His)
11g.67490387G>TCA381551743AIPc.694G>T
c.528G>T (p.Gln176His)
n.1229G>T
c.469-610G>T (n.469-610G>T)
c.348G>T (p.Gln116His)
c.717G>T (p.Gln239His)
c.540G>T (p.Gln180His)
c.537G>T (p.Gln179His)
c.369G>T (p.Gln123His)
 gnomAD v4
11g.67490388T>ACA381551745AIPc.695T>A
c.529T>A (p.Cys177Ser)
n.1230T>A
c.469-609T>A (n.469-609T>A)
c.349T>A (p.Cys117Ser)
c.718T>A (p.Cys240Ser)
c.541T>A (p.Cys181Ser)
c.538T>A (p.Cys180Ser)
c.370T>A (p.Cys124Ser)
11g.67490388T>CCA381551747AIPc.695T>C
c.529T>C (p.Cys177Arg)
n.1230T>C
c.469-609T>C (n.469-609T>C)
c.349T>C (p.Cys117Arg)
c.718T>C (p.Cys240Arg)
c.541T>C (p.Cys181Arg)
c.538T>C (p.Cys180Arg)
c.370T>C (p.Cys124Arg)
 ClinVar gnomAD v4
11g.67490388T>GCA381551748AIPc.695T>G
c.529T>G (p.Cys177Gly)
n.1230T>G
c.469-609T>G (n.469-609T>G)
c.349T>G (p.Cys117Gly)
c.718T>G (p.Cys240Gly)
c.541T>G (p.Cys181Gly)
c.538T>G (p.Cys180Gly)
c.370T>G (p.Cys124Gly)
11g.67490389G>ACA381551754AIPc.696G>A
c.530G>A (p.Cys177Tyr)
n.1231G>A
c.469-608G>A (n.469-608G>A)
c.350G>A (p.Cys117Tyr)
c.719G>A (p.Cys240Tyr)
c.542G>A (p.Cys181Tyr)
c.539G>A (p.Cys180Tyr)
c.371G>A (p.Cys124Tyr)
 ClinVar dbSNP
11g.67490389G>CCA381551750AIPc.696G>C
c.530G>C (p.Cys177Ser)
n.1231G>C
c.469-608G>C (n.469-608G>C)
c.350G>C (p.Cys117Ser)
c.719G>C (p.Cys240Ser)
c.542G>C (p.Cys181Ser)
c.539G>C (p.Cys180Ser)
c.371G>C (p.Cys124Ser)
 ClinVar
11g.67490389G>TCA381551752AIPc.696G>T
c.530G>T (p.Cys177Phe)
n.1231G>T
c.469-608G>T (n.469-608G>T)
c.350G>T (p.Cys117Phe)
c.719G>T (p.Cys240Phe)
c.542G>T (p.Cys181Phe)
c.539G>T (p.Cys180Phe)
c.371G>T (p.Cys124Phe)
 gnomAD v4
11g.67490390C>ACA381551755AIPc.697C>A
c.531C>A (p.Cys177Ter)
n.1232C>A
c.469-607C>A (n.469-607C>A)
c.351C>A (p.Cys117Ter)
c.720C>A (p.Cys240Ter)
c.543C>A (p.Cys181Ter)
c.540C>A (p.Cys180Ter)
c.372C>A (p.Cys124Ter)
11g.67490390C=CA1980172439AIPc.697C=
c.531C= (p.Cys177=)
n.1232C=
c.469-607C= (n.469-607C=)
c.351C= (p.Cys117=)
c.720C= (p.Cys240=)
c.543C= (p.Cys181=)
c.540C= (p.Cys180=)
c.372C= (p.Cys124=)
11g.67490390C>GCA381551757AIPc.697C>G
c.531C>G (p.Cys177Trp)
n.1232C>G
c.469-607C>G (n.469-607C>G)
c.351C>G (p.Cys117Trp)
c.720C>G (p.Cys240Trp)
c.543C>G (p.Cys181Trp)
c.540C>G (p.Cys180Trp)
c.372C>G (p.Cys124Trp)
11g.67490390C>TCA224165299AIPc.697C>T
c.531C>T (p.Cys177=)
n.1232C>T
c.469-607C>T (n.469-607C>T)
c.351C>T (p.Cys117=)
c.720C>T (p.Cys240=)
c.543C>T (p.Cys181=)
c.540C>T (p.Cys180=)
c.372C>T (p.Cys124=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490391A=CA1980172440AIPc.698A=
c.532A= (p.Lys178=)
n.1233A=
c.469-606A= (n.469-606A=)
c.352A= (p.Lys118=)
c.721A= (p.Lys241=)
c.544A= (p.Lys182=)
c.541A= (p.Lys181=)
c.373A= (p.Lys125=)
11g.67490391A>CCA381551761AIPc.698A>C
c.532A>C (p.Lys178Gln)
n.1233A>C
c.469-606A>C (n.469-606A>C)
c.352A>C (p.Lys118Gln)
c.721A>C (p.Lys241Gln)
c.544A>C (p.Lys182Gln)
c.541A>C (p.Lys181Gln)
c.373A>C (p.Lys125Gln)
11g.67490391A>GCA344167AIPc.698A>G
c.532A>G (p.Lys178Glu)
n.1233A>G
c.469-606A>G (n.469-606A>G)
c.352A>G (p.Lys118Glu)
c.721A>G (p.Lys241Glu)
c.544A>G (p.Lys182Glu)
c.541A>G (p.Lys181Glu)
c.373A>G (p.Lys125Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490391A>TCA344171AIPc.698A>T
c.532A>T (p.Lys178Ter)
n.1233A>T
c.469-606A>T (n.469-606A>T)
c.352A>T (p.Lys118Ter)
c.721A>T (p.Lys241Ter)
c.544A>T (p.Lys182Ter)
c.541A>T (p.Lys181Ter)
c.373A>T (p.Lys125Ter)
 ClinVar dbSNP
11g.67490392A>CCA381551762AIPc.699A>C
c.533A>C (p.Lys178Thr)
n.1234A>C
c.469-605A>C (n.469-605A>C)
c.353A>C (p.Lys118Thr)
c.722A>C (p.Lys241Thr)
c.545A>C (p.Lys182Thr)
c.542A>C (p.Lys181Thr)
c.374A>C (p.Lys125Thr)
11g.67490392A>GCA381551764AIPc.699A>G
c.533A>G (p.Lys178Arg)
n.1234A>G
c.469-605A>G (n.469-605A>G)
c.353A>G (p.Lys118Arg)
c.722A>G (p.Lys241Arg)
c.545A>G (p.Lys182Arg)
c.542A>G (p.Lys181Arg)
c.374A>G (p.Lys125Arg)
11g.67490392A>TCA381551765AIPc.699A>T
c.533A>T (p.Lys178Met)
n.1234A>T
c.469-605A>T (n.469-605A>T)
c.353A>T (p.Lys118Met)
c.722A>T (p.Lys241Met)
c.545A>T (p.Lys182Met)
c.542A>T (p.Lys181Met)
c.374A>T (p.Lys125Met)
11g.67490393G>ACA475509247AIPc.700G>A
c.534G>A (p.Lys178=)
n.1235G>A
c.469-604G>A (n.469-604G>A)
c.354G>A (p.Lys118=)
c.723G>A (p.Lys241=)
c.546G>A (p.Lys182=)
c.543G>A (p.Lys181=)
c.375G>A (p.Lys125=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490393G>CCA381551767AIPc.700G>C
c.534G>C (p.Lys178Asn)
n.1235G>C
c.469-604G>C (n.469-604G>C)
c.354G>C (p.Lys118Asn)
c.723G>C (p.Lys241Asn)
c.546G>C (p.Lys182Asn)
c.543G>C (p.Lys181Asn)
c.375G>C (p.Lys125Asn)
11g.67490393G=CA1980172441AIPc.700G=
c.534G= (p.Lys178=)
n.1235G=
c.469-604G= (n.469-604G=)
c.354G= (p.Lys118=)
c.723G= (p.Lys241=)
c.546G= (p.Lys182=)
c.543G= (p.Lys181=)
c.375G= (p.Lys125=)
11g.67490393G>TCA381551769AIPc.700G>T
c.534G>T (p.Lys178Asn)
n.1235G>T
c.469-604G>T (n.469-604G>T)
c.354G>T (p.Lys118Asn)
c.723G>T (p.Lys241Asn)
c.546G>T (p.Lys182Asn)
c.543G>T (p.Lys181Asn)
c.375G>T (p.Lys125Asn)
11g.67490394C>ACA381551771AIPc.701C>A
c.535C>A (p.Leu179Met)
n.1236C>A
c.469-603C>A (n.469-603C>A)
c.355C>A (p.Leu119Met)
c.724C>A (p.Leu242Met)
c.547C>A (p.Leu183Met)
c.544C>A (p.Leu182Met)
c.376C>A (p.Leu126Met)
11g.67490394C=CA1980172442AIPc.701C=
c.535C= (p.Leu179=)
n.1236C=
c.469-603C= (n.469-603C=)
c.355C= (p.Leu119=)
c.724C= (p.Leu242=)
c.547C= (p.Leu183=)
c.544C= (p.Leu182=)
c.376C= (p.Leu126=)
11g.67490394C>GCA6140918AIPc.701C>G
c.535C>G (p.Leu179Val)
n.1236C>G
c.469-603C>G (n.469-603C>G)
c.355C>G (p.Leu119Val)
c.724C>G (p.Leu242Val)
c.547C>G (p.Leu183Val)
c.544C>G (p.Leu182Val)
c.376C>G (p.Leu126Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490394C>TCA475509248AIPc.701C>T
c.535C>T (p.Leu179=)
n.1236C>T
c.469-603C>T (n.469-603C>T)
c.355C>T (p.Leu119=)
c.724C>T (p.Leu242=)
c.547C>T (p.Leu183=)
c.544C>T (p.Leu182=)
c.376C>T (p.Leu126=)
11g.67490395T>ACA381551775AIPc.702T>A
c.536T>A (p.Leu179Gln)
n.1237T>A
c.469-602T>A (n.469-602T>A)
c.356T>A (p.Leu119Gln)
c.725T>A (p.Leu242Gln)
c.548T>A (p.Leu183Gln)
c.545T>A (p.Leu182Gln)
c.377T>A (p.Leu126Gln)
11g.67490395T>CCA381551777AIPc.702T>C
c.536T>C (p.Leu179Pro)
n.1237T>C
c.469-602T>C (n.469-602T>C)
c.356T>C (p.Leu119Pro)
c.725T>C (p.Leu242Pro)
c.548T>C (p.Leu183Pro)
c.545T>C (p.Leu182Pro)
c.377T>C (p.Leu126Pro)
11g.67490395T>GCA381551776AIPc.702T>G
c.536T>G (p.Leu179Arg)
n.1237T>G
c.469-602T>G (n.469-602T>G)
c.356T>G (p.Leu119Arg)
c.725T>G (p.Leu242Arg)
c.548T>G (p.Leu183Arg)
c.545T>G (p.Leu182Arg)
c.377T>G (p.Leu126Arg)
11g.67490396G>ACA475509250AIPc.703G>A
c.537G>A (p.Leu179=)
n.1238G>A
c.469-601G>A (n.469-601G>A)
c.357G>A (p.Leu119=)
c.726G>A (p.Leu242=)
c.549G>A (p.Leu183=)
c.546G>A (p.Leu182=)
c.378G>A (p.Leu126=)
 ClinVar dbSNP
11g.67490396G>CCA475509251AIPc.703G>C
c.537G>C (p.Leu179=)
n.1238G>C
c.469-601G>C (n.469-601G>C)
c.357G>C (p.Leu119=)
c.726G>C (p.Leu242=)
c.549G>C (p.Leu183=)
c.546G>C (p.Leu182=)
c.378G>C (p.Leu126=)
 ClinVar dbSNP
11g.67490396G>TCA475509252AIPc.703G>T
c.537G>T (p.Leu179=)
n.1238G>T
c.469-601G>T (n.469-601G>T)
c.357G>T (p.Leu119=)
c.726G>T (p.Leu242=)
c.549G>T (p.Leu183=)
c.546G>T (p.Leu182=)
c.378G>T (p.Leu126=)
11g.67490396_67490397delinsAACA2580084756AIPc.703_704delinsAA
c.537_538delinsAA (p.Val180Met)
n.1238_1239delinsAA
c.469-601_469-600delinsAA (n.469-601_469-600delinsAA)
c.357_358delinsAA (p.Val120Met)
c.726_727delinsAA (p.Val243Met)
c.549_550delinsAA (p.Val184Met)
c.546_547delinsAA (p.Val183Met)
c.378_379delinsAA (p.Val127Met)
 ClinVar
11g.67490396_67490397insCACA2567039373AIPc.703_704insCA
c.537_538insCA (p.Val180GlnfsTer?)
n.1238_1239insCA
c.469-601_469-600insCA (n.469-601_469-600insCA)
c.357_358insCA (p.Val120GlnfsTer?)
c.726_727insCA (p.Val243GlnfsTer?)
c.549_550insCA (p.Val184GlnfsTer?)
c.546_547insCA (p.Val183GlnfsTer?)
c.378_379insCA (p.Val127GlnfsTer?)
11g.67490397G>ACA381551780AIPc.704G>A
c.538G>A (p.Val180Met)
n.1239G>A
c.469-600G>A (n.469-600G>A)
c.358G>A (p.Val120Met)
c.727G>A (p.Val243Met)
c.550G>A (p.Val184Met)
c.547G>A (p.Val183Met)
c.379G>A (p.Val127Met)
 dbSNP gnomAD v2 gnomAD v4
11g.67490397G>CCA381551782AIPc.704G>C
c.538G>C (p.Val180Leu)
n.1239G>C
c.469-600G>C (n.469-600G>C)
c.358G>C (p.Val120Leu)
c.727G>C (p.Val243Leu)
c.550G>C (p.Val184Leu)
c.547G>C (p.Val183Leu)
c.379G>C (p.Val127Leu)
 ClinVar dbSNP gnomAD v4
11g.67490397G=CA1980172443AIPc.704G=
c.538G= (p.Val180=)
n.1239G=
c.469-600G= (n.469-600G=)
c.358G= (p.Val120=)
c.727G= (p.Val243=)
c.550G= (p.Val184=)
c.547G= (p.Val183=)
c.379G= (p.Val127=)
11g.67490397G>TCA381551783AIPc.704G>T
c.538G>T (p.Val180Leu)
n.1239G>T
c.469-600G>T (n.469-600G>T)
c.358G>T (p.Val120Leu)
c.727G>T (p.Val243Leu)
c.550G>T (p.Val184Leu)
c.547G>T (p.Val183Leu)
c.379G>T (p.Val127Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490398T>ACA381551784AIPc.705T>A
c.539T>A (p.Val180Glu)
n.1240T>A
c.469-599T>A (n.469-599T>A)
c.359T>A (p.Val120Glu)
c.728T>A (p.Val243Glu)
c.551T>A (p.Val184Glu)
c.548T>A (p.Val183Glu)
c.380T>A (p.Val127Glu)
11g.67490398T>CCA6140919AIPc.705T>C
c.539T>C (p.Val180Ala)
n.1240T>C
c.469-599T>C (n.469-599T>C)
c.359T>C (p.Val120Ala)
c.728T>C (p.Val243Ala)
c.551T>C (p.Val184Ala)
c.548T>C (p.Val183Ala)
c.380T>C (p.Val127Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490398T>GCA381551787AIPc.705T>G
c.539T>G (p.Val180Gly)
n.1240T>G
c.469-599T>G (n.469-599T>G)
c.359T>G (p.Val120Gly)
c.728T>G (p.Val243Gly)
c.551T>G (p.Val184Gly)
c.548T>G (p.Val183Gly)
c.380T>G (p.Val127Gly)
11g.67490398T=CA1980172444AIPc.705T=
c.539T= (p.Val180=)
n.1240T=
c.469-599T= (n.469-599T=)
c.359T= (p.Val120=)
c.728T= (p.Val243=)
c.551T= (p.Val184=)
c.548T= (p.Val183=)
c.380T= (p.Val127=)
11g.67490399G>ACA475509256AIPc.706G>A
c.540G>A (p.Val180=)
n.1241G>A
c.469-598G>A (n.469-598G>A)
c.360G>A (p.Val120=)
c.729G>A (p.Val243=)
c.552G>A (p.Val184=)
c.549G>A (p.Val183=)
c.381G>A (p.Val127=)
11g.67490399G>CCA475509257AIPc.706G>C
c.540G>C (p.Val180=)
n.1241G>C
c.469-598G>C (n.469-598G>C)
c.360G>C (p.Val120=)
c.729G>C (p.Val243=)
c.552G>C (p.Val184=)
c.549G>C (p.Val183=)
c.381G>C (p.Val127=)
11g.67490399G>TCA475509258AIPc.706G>T
c.540G>T (p.Val180=)
n.1241G>T
c.469-598G>T (n.469-598G>T)
c.360G>T (p.Val120=)
c.729G>T (p.Val243=)
c.552G>T (p.Val184=)
c.549G>T (p.Val183=)
c.381G>T (p.Val127=)
 gnomAD v4
11g.67490400G>ACA381551789AIPc.707G>A
c.541G>A (p.Val181Ile)
n.1242G>A
c.469-597G>A (n.469-597G>A)
c.361G>A (p.Val121Ile)
c.730G>A (p.Val244Ile)
c.553G>A (p.Val185Ile)
c.550G>A (p.Val184Ile)
c.382G>A (p.Val128Ile)
11g.67490400G>CCA381551791AIPc.707G>C
c.541G>C (p.Val181Leu)
n.1242G>C
c.469-597G>C (n.469-597G>C)
c.361G>C (p.Val121Leu)
c.730G>C (p.Val244Leu)
c.553G>C (p.Val185Leu)
c.550G>C (p.Val184Leu)
c.382G>C (p.Val128Leu)
11g.67490400G>TCA381551793AIPc.707G>T
c.541G>T (p.Val181Phe)
n.1242G>T
c.469-597G>T (n.469-597G>T)
c.361G>T (p.Val121Phe)
c.730G>T (p.Val244Phe)
c.553G>T (p.Val185Phe)
c.550G>T (p.Val184Phe)
c.382G>T (p.Val128Phe)
11g.67490400_67490401delCA2524014120AIPc.707_708del
c.541_542del (p.Val181ArgfsTer?)
n.1242_1243del
c.469-597_469-596del (n.469-597_469-596del)
c.361_362del (p.Val121ArgfsTer?)
c.730_731del (p.Val244ArgfsTer?)
c.553_554del (p.Val185ArgfsTer?)
c.550_551del (p.Val184ArgfsTer?)
c.382_383del (p.Val128ArgfsTer20)
11g.67490401T>ACA381551795AIPc.708T>A
c.542T>A (p.Val181Asp)
n.1243T>A
c.469-596T>A (n.469-596T>A)
c.362T>A (p.Val121Asp)
c.731T>A (p.Val244Asp)
c.554T>A (p.Val185Asp)
c.551T>A (p.Val184Asp)
c.383T>A (p.Val128Asp)
 gnomAD v4
11g.67490401T>CCA381551797AIPc.708T>C
c.542T>C (p.Val181Ala)
n.1243T>C
c.469-596T>C (n.469-596T>C)
c.362T>C (p.Val121Ala)
c.731T>C (p.Val244Ala)
c.554T>C (p.Val185Ala)
c.551T>C (p.Val184Ala)
c.383T>C (p.Val128Ala)
11g.67490401T>GCA381551799AIPc.708T>G
c.542T>G (p.Val181Gly)
n.1243T>G
c.469-596T>G (n.469-596T>G)
c.362T>G (p.Val121Gly)
c.731T>G (p.Val244Gly)
c.554T>G (p.Val185Gly)
c.551T>G (p.Val184Gly)
c.383T>G (p.Val128Gly)
11g.67490402C>ACA475509263AIPc.709C>A
c.543C>A (p.Val181=)
n.1244C>A
c.469-595C>A (n.469-595C>A)
c.363C>A (p.Val121=)
c.732C>A (p.Val244=)
c.555C>A (p.Val185=)
c.552C>A (p.Val184=)
c.384C>A (p.Val128=)
 gnomAD v4 COSMIC
11g.67490402C=CA1980172445AIPc.709C=
c.543C= (p.Val181=)
n.1244C=
c.469-595C= (n.469-595C=)
c.363C= (p.Val121=)
c.732C= (p.Val244=)
c.555C= (p.Val185=)
c.552C= (p.Val184=)
c.384C= (p.Val128=)
11g.67490402C>GCA6140920AIPc.709C>G
c.543C>G (p.Val181=)
n.1244C>G
c.469-595C>G (n.469-595C>G)
c.363C>G (p.Val121=)
c.732C>G (p.Val244=)
c.555C>G (p.Val185=)
c.552C>G (p.Val184=)
c.384C>G (p.Val128=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490402C>TCA6140921AIPc.709C>T
c.543C>T (p.Val181=)
n.1244C>T
c.469-595C>T (n.469-595C>T)
c.363C>T (p.Val121=)
c.732C>T (p.Val244=)
c.555C>T (p.Val185=)
c.552C>T (p.Val184=)
c.384C>T (p.Val128=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490403G>ACA6140922AIPc.710G>A
c.544G>A (p.Glu182Lys)
n.1245G>A
c.469-594G>A (n.469-594G>A)
c.364G>A (p.Glu122Lys)
c.733G>A (p.Glu245Lys)
c.556G>A (p.Glu186Lys)
c.553G>A (p.Glu185Lys)
c.385G>A (p.Glu129Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490403G>CCA381551805AIPc.710G>C
c.544G>C (p.Glu182Gln)
n.1245G>C
c.469-594G>C (n.469-594G>C)
c.364G>C (p.Glu122Gln)
c.733G>C (p.Glu245Gln)
c.556G>C (p.Glu186Gln)
c.553G>C (p.Glu185Gln)
c.385G>C (p.Glu129Gln)
 ClinVar
11g.67490403G=CA1980172446AIPc.710G=
c.544G= (p.Glu182=)
n.1245G=
c.469-594G= (n.469-594G=)
c.364G= (p.Glu122=)
c.733G= (p.Glu245=)
c.556G= (p.Glu186=)
c.553G= (p.Glu185=)
c.385G= (p.Glu129=)
11g.67490403G>TCA381551806AIPc.710G>T
c.544G>T (p.Glu182Ter)
n.1245G>T
c.469-594G>T (n.469-594G>T)
c.364G>T (p.Glu122Ter)
c.733G>T (p.Glu245Ter)
c.556G>T (p.Glu186Ter)
c.553G>T (p.Glu185Ter)
c.385G>T (p.Glu129Ter)
 gnomAD v4
11g.67490406_67490408delCA2695214804AIPc.713_715del
c.547_549del (p.Glu183del)
n.1248_1250del
c.469-591_469-589del (n.469-591_469-589del)
c.367_369del (p.Glu123del)
c.736_738del (p.Glu246del)
c.559_561del (p.Glu187del)
c.556_558del (p.Glu186del)
c.388_390del (p.Glu130del)
 ClinVar
11g.67490404A>CCA381551808AIPc.711A>C
c.545A>C (p.Glu182Ala)
n.1246A>C
c.469-593A>C (n.469-593A>C)
c.365A>C (p.Glu122Ala)
c.734A>C (p.Glu245Ala)
c.557A>C (p.Glu186Ala)
c.554A>C (p.Glu185Ala)
c.386A>C (p.Glu129Ala)
11g.67490404A>GCA381551810AIPc.711A>G
c.545A>G (p.Glu182Gly)
n.1246A>G
c.469-593A>G (n.469-593A>G)
c.365A>G (p.Glu122Gly)
c.734A>G (p.Glu245Gly)
c.557A>G (p.Glu186Gly)
c.554A>G (p.Glu185Gly)
c.386A>G (p.Glu129Gly)
11g.67490404A>TCA381551812AIPc.711A>T
c.545A>T (p.Glu182Val)
n.1246A>T
c.469-593A>T (n.469-593A>T)
c.365A>T (p.Glu122Val)
c.734A>T (p.Glu245Val)
c.557A>T (p.Glu186Val)
c.554A>T (p.Glu185Val)
c.386A>T (p.Glu129Val)
11g.67490405G>ACA6140923AIPc.712G>A
c.546G>A (p.Glu182=)
n.1247G>A
c.469-592G>A (n.469-592G>A)
c.366G>A (p.Glu122=)
c.735G>A (p.Glu245=)
c.558G>A (p.Glu186=)
c.555G>A (p.Glu185=)
c.387G>A (p.Glu129=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490405G>CCA381551815AIPc.712G>C
c.546G>C (p.Glu182Asp)
n.1247G>C
c.469-592G>C (n.469-592G>C)
c.366G>C (p.Glu122Asp)
c.735G>C (p.Glu245Asp)
c.558G>C (p.Glu186Asp)
c.555G>C (p.Glu185Asp)
c.387G>C (p.Glu129Asp)
11g.67490405G=CA1980172447AIPc.712G=
c.546G= (p.Glu182=)
n.1247G=
c.469-592G= (n.469-592G=)
c.366G= (p.Glu122=)
c.735G= (p.Glu245=)
c.558G= (p.Glu186=)
c.555G= (p.Glu185=)
c.387G= (p.Glu129=)
11g.67490405G>TCA381551817AIPc.712G>T
c.546G>T (p.Glu182Asp)
n.1247G>T
c.469-592G>T (n.469-592G>T)
c.366G>T (p.Glu122Asp)
c.735G>T (p.Glu245Asp)
c.558G>T (p.Glu186Asp)
c.555G>T (p.Glu185Asp)
c.387G>T (p.Glu129Asp)
 gnomAD v4
11g.67490406G>ACA6140924AIPc.713G>A
c.547G>A (p.Glu183Lys)
n.1248G>A
c.469-591G>A (n.469-591G>A)
c.367G>A (p.Glu123Lys)
c.736G>A (p.Glu246Lys)
c.559G>A (p.Glu187Lys)
c.556G>A (p.Glu186Lys)
c.388G>A (p.Glu130Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490406G>CCA381551820AIPc.713G>C
c.547G>C (p.Glu183Gln)
n.1248G>C
c.469-591G>C (n.469-591G>C)
c.367G>C (p.Glu123Gln)
c.736G>C (p.Glu246Gln)
c.559G>C (p.Glu187Gln)
c.556G>C (p.Glu186Gln)
c.388G>C (p.Glu130Gln)
11g.67490406G=CA1980172448AIPc.713G=
c.547G= (p.Glu183=)
n.1248G=
c.469-591G= (n.469-591G=)
c.367G= (p.Glu123=)
c.736G= (p.Glu246=)
c.559G= (p.Glu187=)
c.556G= (p.Glu186=)
c.388G= (p.Glu130=)
11g.67490406G>TCA381551822AIPc.713G>T
c.547G>T (p.Glu183Ter)
n.1248G>T
c.469-591G>T (n.469-591G>T)
c.367G>T (p.Glu123Ter)
c.736G>T (p.Glu246Ter)
c.559G>T (p.Glu187Ter)
c.556G>T (p.Glu186Ter)
c.388G>T (p.Glu130Ter)
11g.67490407A>CCA381551828AIPc.714A>C
c.548A>C (p.Glu183Ala)
n.1249A>C
c.469-590A>C (n.469-590A>C)
c.368A>C (p.Glu123Ala)
c.737A>C (p.Glu246Ala)
c.560A>C (p.Glu187Ala)
c.557A>C (p.Glu186Ala)
c.389A>C (p.Glu130Ala)
11g.67490407A>GCA381551827AIPc.714A>G
c.548A>G (p.Glu183Gly)
n.1249A>G
c.469-590A>G (n.469-590A>G)
c.368A>G (p.Glu123Gly)
c.737A>G (p.Glu246Gly)
c.560A>G (p.Glu187Gly)
c.557A>G (p.Glu186Gly)
c.389A>G (p.Glu130Gly)
11g.67490407A>TCA381551825AIPc.714A>T
c.548A>T (p.Glu183Val)
n.1249A>T
c.469-590A>T (n.469-590A>T)
c.368A>T (p.Glu123Val)
c.737A>T (p.Glu246Val)
c.560A>T (p.Glu187Val)
c.557A>T (p.Glu186Val)
c.389A>T (p.Glu130Val)
11g.67490408G>ACA6140925AIPc.715G>A
c.549G>A (p.Glu183=)
n.1250G>A
c.469-589G>A (n.469-589G>A)
c.369G>A (p.Glu123=)
c.738G>A (p.Glu246=)
c.561G>A (p.Glu187=)
c.558G>A (p.Glu186=)
c.390G>A (p.Glu130=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
11g.67490408G>CCA381551833AIPc.715G>C
c.549G>C (p.Glu183Asp)
n.1250G>C
c.469-589G>C (n.469-589G>C)
c.369G>C (p.Glu123Asp)
c.738G>C (p.Glu246Asp)
c.561G>C (p.Glu187Asp)
c.558G>C (p.Glu186Asp)
c.390G>C (p.Glu130Asp)
11g.67490408G=CA1980172449AIPc.715G=
c.549G= (p.Glu183=)
n.1250G=
c.469-589G= (n.469-589G=)
c.369G= (p.Glu123=)
c.738G= (p.Glu246=)
c.561G= (p.Glu187=)
c.558G= (p.Glu186=)
c.390G= (p.Glu130=)
11g.67490408G>TCA381551832AIPc.715G>T
c.549G>T (p.Glu183Asp)
n.1250G>T
c.469-589G>T (n.469-589G>T)
c.369G>T (p.Glu123Asp)
c.738G>T (p.Glu246Asp)
c.561G>T (p.Glu187Asp)
c.558G>T (p.Glu186Asp)
c.390G>T (p.Glu130Asp)
 ClinVar gnomAD v4
11g.67490408_67490411delinsGTACCA1980172450AIPc.715_718delinsGTAC
c.549_552delinsGTAC (p.Glu183=)
n.1250_1253delinsGTAC
c.469-589_469-586delinsGTAC (n.469-589_469-586delinsGTAC)
c.369_372delinsGTAC (p.Glu123=)
c.738_741delinsGTAC (p.Glu246=)
c.561_564delinsGTAC (p.Glu187=)
c.558_561delinsGTAC (p.Glu186=)
c.390_393delinsGTAC (p.Glu130=)
11g.67490409T>ACA381551836AIPc.716T>A
c.550T>A (p.Tyr184Asn)
n.1251T>A
c.469-588T>A (n.469-588T>A)
c.370T>A (p.Tyr124Asn)
c.739T>A (p.Tyr247Asn)
c.562T>A (p.Tyr188Asn)
c.559T>A (p.Tyr187Asn)
c.391T>A (p.Tyr131Asn)
11g.67490409T>CCA381551840AIPc.716T>C
c.550T>C (p.Tyr184His)
n.1251T>C
c.469-588T>C (n.469-588T>C)
c.370T>C (p.Tyr124His)
c.739T>C (p.Tyr247His)
c.562T>C (p.Tyr188His)
c.559T>C (p.Tyr187His)
c.391T>C (p.Tyr131His)
11g.67490409T>GCA381551838AIPc.716T>G
c.550T>G (p.Tyr184Asp)
n.1251T>G
c.469-588T>G (n.469-588T>G)
c.370T>G (p.Tyr124Asp)
c.739T>G (p.Tyr247Asp)
c.562T>G (p.Tyr188Asp)
c.559T>G (p.Tyr187Asp)
c.391T>G (p.Tyr131Asp)
 dbSNP
11g.67490409T=CA1980172451AIPc.716T=
c.550T= (p.Tyr184=)
n.1251T=
c.469-588T= (n.469-588T=)
c.370T= (p.Tyr124=)
c.739T= (p.Tyr247=)
c.562T= (p.Tyr188=)
c.559T= (p.Tyr187=)
c.391T= (p.Tyr131=)
11g.67490412_67490414delCA344175AIPc.719_721del
c.553_555del (p.Tyr185del)
n.1254_1256del
c.469-585_469-583del (n.469-585_469-583del)
c.373_375del (p.Tyr125del)
c.742_744del (p.Tyr248del)
c.565_567del (p.Tyr189del)
c.562_564del (p.Tyr188del)
c.394_396del (p.Tyr132del)
 ClinVar dbSNP
11g.67490410A>CCA381551842AIPc.717A>C
c.551A>C (p.Tyr184Ser)
n.1252A>C
c.469-587A>C (n.469-587A>C)
c.371A>C (p.Tyr124Ser)
c.740A>C (p.Tyr247Ser)
c.563A>C (p.Tyr188Ser)
c.560A>C (p.Tyr187Ser)
c.392A>C (p.Tyr131Ser)
11g.67490410A>GCA381551844AIPc.717A>G
c.551A>G (p.Tyr184Cys)
n.1252A>G
c.469-587A>G (n.469-587A>G)
c.371A>G (p.Tyr124Cys)
c.740A>G (p.Tyr247Cys)
c.563A>G (p.Tyr188Cys)
c.560A>G (p.Tyr187Cys)
c.392A>G (p.Tyr131Cys)
 gnomAD v4
11g.67490410A>TCA381551846AIPc.717A>T
c.551A>T (p.Tyr184Phe)
n.1252A>T
c.469-587A>T (n.469-587A>T)
c.371A>T (p.Tyr124Phe)
c.740A>T (p.Tyr247Phe)
c.563A>T (p.Tyr188Phe)
c.560A>T (p.Tyr187Phe)
c.392A>T (p.Tyr131Phe)
 ClinVar
11g.67490411C>ACA381551848AIPc.718C>A
c.552C>A (p.Tyr184Ter)
n.1253C>A
c.469-586C>A (n.469-586C>A)
c.372C>A (p.Tyr124Ter)
c.741C>A (p.Tyr247Ter)
c.564C>A (p.Tyr188Ter)
c.561C>A (p.Tyr187Ter)
c.393C>A (p.Tyr131Ter)
11g.67490411C>GCA381551850AIPc.718C>G
c.552C>G (p.Tyr184Ter)
n.1253C>G
c.469-586C>G (n.469-586C>G)
c.372C>G (p.Tyr124Ter)
c.741C>G (p.Tyr247Ter)
c.564C>G (p.Tyr188Ter)
c.561C>G (p.Tyr187Ter)
c.393C>G (p.Tyr131Ter)
 COSMIC
11g.67490411C>TCA475509268AIPc.718C>T
c.552C>T (p.Tyr184=)
n.1253C>T
c.469-586C>T (n.469-586C>T)
c.372C>T (p.Tyr124=)
c.741C>T (p.Tyr247=)
c.564C>T (p.Tyr188=)
c.561C>T (p.Tyr187=)
c.393C>T (p.Tyr131=)
11g.67490412T>ACA381551852AIPc.719T>A
c.553T>A (p.Tyr185Asn)
n.1254T>A
c.469-585T>A (n.469-585T>A)
c.373T>A (p.Tyr125Asn)
c.742T>A (p.Tyr248Asn)
c.565T>A (p.Tyr189Asn)
c.562T>A (p.Tyr188Asn)
c.394T>A (p.Tyr132Asn)
11g.67490412T>CCA381551854AIPc.719T>C
c.553T>C (p.Tyr185His)
n.1254T>C
c.469-585T>C (n.469-585T>C)
c.373T>C (p.Tyr125His)
c.742T>C (p.Tyr248His)
c.565T>C (p.Tyr189His)
c.562T>C (p.Tyr188His)
c.394T>C (p.Tyr132His)
 ClinVar
11g.67490412T>GCA381551856AIPc.719T>G
c.553T>G (p.Tyr185Asp)
n.1254T>G
c.469-585T>G (n.469-585T>G)
c.373T>G (p.Tyr125Asp)
c.742T>G (p.Tyr248Asp)
c.565T>G (p.Tyr189Asp)
c.562T>G (p.Tyr188Asp)
c.394T>G (p.Tyr132Asp)
11g.67490413A=CA1980172452AIPc.720A=
c.554A= (p.Tyr185=)
n.1255A=
c.469-584A= (n.469-584A=)
c.374A= (p.Tyr125=)
c.743A= (p.Tyr248=)
c.566A= (p.Tyr189=)
c.563A= (p.Tyr188=)
c.395A= (p.Tyr132=)
11g.67490413A>CCA381551858AIPc.720A>C
c.554A>C (p.Tyr185Ser)
n.1255A>C
c.469-584A>C (n.469-584A>C)
c.374A>C (p.Tyr125Ser)
c.743A>C (p.Tyr248Ser)
c.566A>C (p.Tyr189Ser)
c.563A>C (p.Tyr188Ser)
c.395A>C (p.Tyr132Ser)
11g.67490413A>GCA381551860AIPc.720A>G
c.554A>G (p.Tyr185Cys)
n.1255A>G
c.469-584A>G (n.469-584A>G)
c.374A>G (p.Tyr125Cys)
c.743A>G (p.Tyr248Cys)
c.566A>G (p.Tyr189Cys)
c.563A>G (p.Tyr188Cys)
c.395A>G (p.Tyr132Cys)
 dbSNP gnomAD v2 gnomAD v4
11g.67490413A>TCA381551861AIPc.720A>T
c.554A>T (p.Tyr185Phe)
n.1255A>T
c.469-584A>T (n.469-584A>T)
c.374A>T (p.Tyr125Phe)
c.743A>T (p.Tyr248Phe)
c.566A>T (p.Tyr189Phe)
c.563A>T (p.Tyr188Phe)
c.395A>T (p.Tyr132Phe)
11g.67490414C>ACA381551862AIPc.721C>A
c.555C>A (p.Tyr185Ter)
n.1256C>A
c.469-583C>A (n.469-583C>A)
c.375C>A (p.Tyr125Ter)
c.744C>A (p.Tyr248Ter)
c.567C>A (p.Tyr189Ter)
c.564C>A (p.Tyr188Ter)
c.396C>A (p.Tyr132Ter)
11g.67490414C=CA1980172453AIPc.721C=
c.555C= (p.Tyr185=)
n.1256C=
c.469-583C= (n.469-583C=)
c.375C= (p.Tyr125=)
c.744C= (p.Tyr248=)
c.567C= (p.Tyr189=)
c.564C= (p.Tyr188=)
c.396C= (p.Tyr132=)
11g.67490414C>GCA381551863AIPc.721C>G
c.555C>G (p.Tyr185Ter)
n.1256C>G
c.469-583C>G (n.469-583C>G)
c.375C>G (p.Tyr125Ter)
c.744C>G (p.Tyr248Ter)
c.567C>G (p.Tyr189Ter)
c.564C>G (p.Tyr188Ter)
c.396C>G (p.Tyr132Ter)
11g.67490414C>TCA6140926AIPc.721C>T
c.555C>T (p.Tyr185=)
n.1256C>T
c.469-583C>T (n.469-583C>T)
c.375C>T (p.Tyr125=)
c.744C>T (p.Tyr248=)
c.567C>T (p.Tyr189=)
c.564C>T (p.Tyr188=)
c.396C>T (p.Tyr132=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490415G>ACA381551864AIPc.722G>A
c.556G>A (p.Glu186Lys)
n.1257G>A
c.469-582G>A (n.469-582G>A)
c.376G>A (p.Glu126Lys)
c.745G>A (p.Glu249Lys)
c.568G>A (p.Glu190Lys)
c.565G>A (p.Glu189Lys)
c.397G>A (p.Glu133Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67490415G>CCA381551866AIPc.722G>C
c.556G>C (p.Glu186Gln)
n.1257G>C
c.469-582G>C (n.469-582G>C)
c.376G>C (p.Glu126Gln)
c.745G>C (p.Glu249Gln)
c.568G>C (p.Glu190Gln)
c.565G>C (p.Glu189Gln)
c.397G>C (p.Glu133Gln)
 ClinVar
11g.67490415G=CA1980172454AIPc.722G=
c.556G= (p.Glu186=)
n.1257G=
c.469-582G= (n.469-582G=)
c.376G= (p.Glu126=)
c.745G= (p.Glu249=)
c.568G= (p.Glu190=)
c.565G= (p.Glu189=)
c.397G= (p.Glu133=)
11g.67490415G>TCA381551865AIPc.722G>T
c.556G>T (p.Glu186Ter)
n.1257G>T
c.469-582G>T (n.469-582G>T)
c.376G>T (p.Glu126Ter)
c.745G>T (p.Glu249Ter)
c.568G>T (p.Glu190Ter)
c.565G>T (p.Glu189Ter)
c.397G>T (p.Glu133Ter)
11g.67490416A>CCA381551867AIPc.723A>C
c.557A>C (p.Glu186Ala)
n.1258A>C
c.469-581A>C (n.469-581A>C)
c.377A>C (p.Glu126Ala)
c.746A>C (p.Glu249Ala)
c.569A>C (p.Glu190Ala)
c.566A>C (p.Glu189Ala)
c.398A>C (p.Glu133Ala)
11g.67490416A>GCA381551868AIPc.723A>G
c.557A>G (p.Glu186Gly)
n.1258A>G
c.469-581A>G (n.469-581A>G)
c.377A>G (p.Glu126Gly)
c.746A>G (p.Glu249Gly)
c.569A>G (p.Glu190Gly)
c.566A>G (p.Glu189Gly)
c.398A>G (p.Glu133Gly)
11g.67490416A>TCA381551869AIPc.723A>T
c.557A>T (p.Glu186Val)
n.1258A>T
c.469-581A>T (n.469-581A>T)
c.377A>T (p.Glu126Val)
c.746A>T (p.Glu249Val)
c.569A>T (p.Glu190Val)
c.566A>T (p.Glu189Val)
c.398A>T (p.Glu133Val)
11g.67490417G>ACA6140927AIPc.724G>A
c.558G>A (p.Glu186=)
n.1259G>A
c.469-580G>A (n.469-580G>A)
c.378G>A (p.Glu126=)
c.747G>A (p.Glu249=)
c.570G>A (p.Glu190=)
c.567G>A (p.Glu189=)
c.399G>A (p.Glu133=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490417G>CCA381551870AIPc.724G>C
c.558G>C (p.Glu186Asp)
n.1259G>C
c.469-580G>C (n.469-580G>C)
c.378G>C (p.Glu126Asp)
c.747G>C (p.Glu249Asp)
c.570G>C (p.Glu190Asp)
c.567G>C (p.Glu189Asp)
c.399G>C (p.Glu133Asp)
11g.67490417G=CA1980172455AIPc.724G=
c.558G= (p.Glu186=)
n.1259G=
c.469-580G= (n.469-580G=)
c.378G= (p.Glu126=)
c.747G= (p.Glu249=)
c.570G= (p.Glu190=)
c.567G= (p.Glu189=)
c.399G= (p.Glu133=)
11g.67490417G>TCA381551871AIPc.724G>T
c.558G>T (p.Glu186Asp)
n.1259G>T
c.469-580G>T (n.469-580G>T)
c.378G>T (p.Glu126Asp)
c.747G>T (p.Glu249Asp)
c.570G>T (p.Glu190Asp)
c.567G>T (p.Glu189Asp)
c.399G>T (p.Glu133Asp)
11g.67490418G>ACA381551872AIPc.725G>A
c.559G>A (p.Val187Met)
n.1260G>A
c.469-579G>A (n.469-579G>A)
c.379G>A (p.Val127Met)
c.748G>A (p.Val250Met)
c.571G>A (p.Val191Met)
c.568G>A (p.Val190Met)
c.400G>A (p.Val134Met)
11g.67490418G>CCA381551873AIPc.725G>C
c.559G>C (p.Val187Leu)
n.1260G>C
c.469-579G>C (n.469-579G>C)
c.379G>C (p.Val127Leu)
c.748G>C (p.Val250Leu)
c.571G>C (p.Val191Leu)
c.568G>C (p.Val190Leu)
c.400G>C (p.Val134Leu)
 ClinVar
11g.67490418G>TCA381551874AIPc.725G>T
c.559G>T (p.Val187Leu)
n.1260G>T
c.469-579G>T (n.469-579G>T)
c.379G>T (p.Val127Leu)
c.748G>T (p.Val250Leu)
c.571G>T (p.Val191Leu)
c.568G>T (p.Val190Leu)
c.400G>T (p.Val134Leu)
 gnomAD v4
11g.67490419T>ACA381551876AIPc.726T>A
c.560T>A (p.Val187Glu)
n.1261T>A
c.469-578T>A (n.469-578T>A)
c.380T>A (p.Val127Glu)
c.749T>A (p.Val250Glu)
c.572T>A (p.Val191Glu)
c.569T>A (p.Val190Glu)
c.401T>A (p.Val134Glu)
 dbSNP
11g.67490419T>CCA381551877AIPc.726T>C
c.560T>C (p.Val187Ala)
n.1261T>C
c.469-578T>C (n.469-578T>C)
c.380T>C (p.Val127Ala)
c.749T>C (p.Val250Ala)
c.572T>C (p.Val191Ala)
c.569T>C (p.Val190Ala)
c.401T>C (p.Val134Ala)
11g.67490419T>GCA381551875AIPc.726T>G
c.560T>G (p.Val187Gly)
n.1261T>G
c.469-578T>G (n.469-578T>G)
c.380T>G (p.Val127Gly)
c.749T>G (p.Val250Gly)
c.572T>G (p.Val191Gly)
c.569T>G (p.Val190Gly)
c.401T>G (p.Val134Gly)
11g.67490419T=CA1980172456AIPc.726T=
c.560T= (p.Val187=)
n.1261T=
c.469-578T= (n.469-578T=)
c.380T= (p.Val127=)
c.749T= (p.Val250=)
c.572T= (p.Val191=)
c.569T= (p.Val190=)
c.401T= (p.Val134=)
11g.67490420G>ACA475509273AIPc.727G>A
c.561G>A (p.Val187=)
n.1262G>A
c.469-577G>A (n.469-577G>A)
c.381G>A (p.Val127=)
c.750G>A (p.Val250=)
c.573G>A (p.Val191=)
c.570G>A (p.Val190=)
c.402G>A (p.Val134=)
11g.67490420G>CCA475509275AIPc.727G>C
c.561G>C (p.Val187=)
n.1262G>C
c.469-577G>C (n.469-577G>C)
c.381G>C (p.Val127=)
c.750G>C (p.Val250=)
c.573G>C (p.Val191=)
c.570G>C (p.Val190=)
c.402G>C (p.Val134=)
 ClinVar
11g.67490420G>TCA475509277AIPc.727G>T
c.561G>T (p.Val187=)
n.1262G>T
c.469-577G>T (n.469-577G>T)
c.381G>T (p.Val127=)
c.750G>T (p.Val250=)
c.573G>T (p.Val191=)
c.570G>T (p.Val190=)
c.402G>T (p.Val134=)
11g.67490421C>ACA381551878AIPc.728C>A
c.562C>A (p.Leu188Met)
n.1263C>A
c.469-576C>A (n.469-576C>A)
c.382C>A (p.Leu128Met)
c.751C>A (p.Leu251Met)
c.574C>A (p.Leu192Met)
c.571C>A (p.Leu191Met)
c.403C>A (p.Leu135Met)
11g.67490421C>GCA381551879AIPc.728C>G
c.562C>G (p.Leu188Val)
n.1263C>G
c.469-576C>G (n.469-576C>G)
c.382C>G (p.Leu128Val)
c.751C>G (p.Leu251Val)
c.574C>G (p.Leu192Val)
c.571C>G (p.Leu191Val)
c.403C>G (p.Leu135Val)
 ClinVar gnomAD v4
11g.67490421C>TCA475509278AIPc.728C>T
c.562C>T (p.Leu188=)
n.1263C>T
c.469-576C>T (n.469-576C>T)
c.382C>T (p.Leu128=)
c.751C>T (p.Leu251=)
c.574C>T (p.Leu192=)
c.571C>T (p.Leu191=)
c.403C>T (p.Leu135=)
11g.67490422delCA2695214805AIPc.729del
c.563del (p.Leu188ArgfsTer?)
n.1264del
c.469-575del (n.469-575del)
c.383del (p.Leu128ArgfsTer?)
c.752del (p.Leu251ArgfsTer?)
c.575del (p.Leu192ArgfsTer?)
c.572del (p.Leu191ArgfsTer?)
c.404del (p.Leu135ArgfsTer?)
11g.67490422T>ACA381551880AIPc.729T>A
c.563T>A (p.Leu188Gln)
n.1264T>A
c.469-575T>A (n.469-575T>A)
c.383T>A (p.Leu128Gln)
c.752T>A (p.Leu251Gln)
c.575T>A (p.Leu192Gln)
c.572T>A (p.Leu191Gln)
c.404T>A (p.Leu135Gln)
11g.67490422T>CCA381551881AIPc.729T>C
c.563T>C (p.Leu188Pro)
n.1264T>C
c.469-575T>C (n.469-575T>C)
c.383T>C (p.Leu128Pro)
c.752T>C (p.Leu251Pro)
c.575T>C (p.Leu192Pro)
c.572T>C (p.Leu191Pro)
c.404T>C (p.Leu135Pro)
11g.67490422T>GCA381551882AIPc.729T>G
c.563T>G (p.Leu188Arg)
n.1264T>G
c.469-575T>G (n.469-575T>G)
c.383T>G (p.Leu128Arg)
c.752T>G (p.Leu251Arg)
c.575T>G (p.Leu192Arg)
c.572T>G (p.Leu191Arg)
c.404T>G (p.Leu135Arg)
11g.67490423G>ACA6140928AIPc.730G>A
c.564G>A (p.Leu188=)
n.1265G>A
c.469-574G>A (n.469-574G>A)
c.384G>A (p.Leu128=)
c.753G>A (p.Leu251=)
c.576G>A (p.Leu192=)
c.573G>A (p.Leu191=)
c.405G>A (p.Leu135=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490423G>CCA475509279AIPc.730G>C
c.564G>C (p.Leu188=)
n.1265G>C
c.469-574G>C (n.469-574G>C)
c.384G>C (p.Leu128=)
c.753G>C (p.Leu251=)
c.576G>C (p.Leu192=)
c.573G>C (p.Leu191=)
c.405G>C (p.Leu135=)
11g.67490423G=CA1980172457AIPc.730G=
c.564G= (p.Leu188=)
n.1265G=
c.469-574G= (n.469-574G=)
c.384G= (p.Leu128=)
c.753G= (p.Leu251=)
c.576G= (p.Leu192=)
c.573G= (p.Leu191=)
c.405G= (p.Leu135=)
11g.67490423G>TCA475509280AIPc.730G>T
c.564G>T (p.Leu188=)
n.1265G>T
c.469-574G>T (n.469-574G>T)
c.384G>T (p.Leu128=)
c.753G>T (p.Leu251=)
c.576G>T (p.Leu192=)
c.573G>T (p.Leu191=)
c.405G>T (p.Leu135=)
 ClinVar
11g.67490424G>ACA381551883AIPc.731G>A
c.565G>A (p.Asp189Asn)
n.1266G>A
c.469-573G>A (n.469-573G>A)
c.385G>A (p.Asp129Asn)
c.754G>A (p.Asp252Asn)
c.577G>A (p.Asp193Asn)
c.574G>A (p.Asp192Asn)
c.406G>A (p.Asp136Asn)
11g.67490424G>CCA381551884AIPc.731G>C
c.565G>C (p.Asp189His)
n.1266G>C
c.469-573G>C (n.469-573G>C)
c.385G>C (p.Asp129His)
c.754G>C (p.Asp252His)
c.577G>C (p.Asp193His)
c.574G>C (p.Asp192His)
c.406G>C (p.Asp136His)
11g.67490424G>TCA381551885AIPc.731G>T
c.565G>T (p.Asp189Tyr)
n.1266G>T
c.469-573G>T (n.469-573G>T)
c.385G>T (p.Asp129Tyr)
c.754G>T (p.Asp252Tyr)
c.577G>T (p.Asp193Tyr)
c.574G>T (p.Asp192Tyr)
c.406G>T (p.Asp136Tyr)
 gnomAD v4
11g.67490425A>CCA381551886AIPc.732A>C
c.566A>C (p.Asp189Ala)
n.1267A>C
c.469-572A>C (n.469-572A>C)
c.386A>C (p.Asp129Ala)
c.755A>C (p.Asp252Ala)
c.578A>C (p.Asp193Ala)
c.575A>C (p.Asp192Ala)
c.407A>C (p.Asp136Ala)
11g.67490425A>GCA381551887AIPc.732A>G
c.566A>G (p.Asp189Gly)
n.1267A>G
c.469-572A>G (n.469-572A>G)
c.386A>G (p.Asp129Gly)
c.755A>G (p.Asp252Gly)
c.578A>G (p.Asp193Gly)
c.575A>G (p.Asp192Gly)
c.407A>G (p.Asp136Gly)
 gnomAD v4
11g.67490425A>TCA381551888AIPc.732A>T
c.566A>T (p.Asp189Val)
n.1267A>T
c.469-572A>T (n.469-572A>T)
c.386A>T (p.Asp129Val)
c.755A>T (p.Asp252Val)
c.578A>T (p.Asp193Val)
c.575A>T (p.Asp192Val)
c.407A>T (p.Asp136Val)
11g.67490426C>ACA381551889AIPc.733C>A
c.567C>A (p.Asp189Glu)
n.1268C>A
c.469-571C>A (n.469-571C>A)
c.387C>A (p.Asp129Glu)
c.756C>A (p.Asp252Glu)
c.579C>A (p.Asp193Glu)
c.576C>A (p.Asp192Glu)
c.408C>A (p.Asp136Glu)
 gnomAD v4
11g.67490426C=CA1980172458AIPc.733C=
c.567C= (p.Asp189=)
n.1268C=
c.469-571C= (n.469-571C=)
c.387C= (p.Asp129=)
c.756C= (p.Asp252=)
c.579C= (p.Asp193=)
c.576C= (p.Asp192=)
c.408C= (p.Asp136=)
11g.67490426C>GCA381551890AIPc.733C>G
c.567C>G (p.Asp189Glu)
n.1268C>G
c.469-571C>G (n.469-571C>G)
c.387C>G (p.Asp129Glu)
c.756C>G (p.Asp252Glu)
c.579C>G (p.Asp193Glu)
c.576C>G (p.Asp192Glu)
c.408C>G (p.Asp136Glu)
11g.67490426C>TCA6140929AIPc.733C>T
c.567C>T (p.Asp189=)
n.1268C>T
c.469-571C>T (n.469-571C>T)
c.387C>T (p.Asp129=)
c.756C>T (p.Asp252=)
c.579C>T (p.Asp193=)
c.576C>T (p.Asp192=)
c.408C>T (p.Asp136=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490427C>ACA381551891AIPc.734C>A
c.568C>A (p.His190Asn)
n.1269C>A
c.469-570C>A (n.469-570C>A)
c.388C>A (p.His130Asn)
c.757C>A (p.His253Asn)
c.580C>A (p.His194Asn)
c.577C>A (p.His193Asn)
c.409C>A (p.His137Asn)
11g.67490427C=CA1980172459AIPc.734C=
c.568C= (p.His190=)
n.1269C=
c.469-570C= (n.469-570C=)
c.388C= (p.His130=)
c.757C= (p.His253=)
c.580C= (p.His194=)
c.577C= (p.His193=)
c.409C= (p.His137=)
11g.67490427C>GCA381551892AIPc.734C>G
c.568C>G (p.His190Asp)
n.1269C>G
c.469-570C>G (n.469-570C>G)
c.388C>G (p.His130Asp)
c.757C>G (p.His253Asp)
c.580C>G (p.His194Asp)
c.577C>G (p.His193Asp)
c.409C>G (p.His137Asp)
11g.67490427C>TCA381551893AIPc.734C>T
c.568C>T (p.His190Tyr)
n.1269C>T
c.469-570C>T (n.469-570C>T)
c.388C>T (p.His130Tyr)
c.757C>T (p.His253Tyr)
c.580C>T (p.His194Tyr)
c.577C>T (p.His193Tyr)
c.409C>T (p.His137Tyr)
 ClinVar dbSNP gnomAD v2
11g.67490428A=CA1980172460AIPc.735A=
c.569A= (p.His190=)
n.1270A=
c.469-569A= (n.469-569A=)
c.389A= (p.His130=)
c.758A= (p.His253=)
c.581A= (p.His194=)
c.578A= (p.His193=)
c.410A= (p.His137=)
11g.67490428A>CCA381551894AIPc.735A>C
c.569A>C (p.His190Pro)
n.1270A>C
c.469-569A>C (n.469-569A>C)
c.389A>C (p.His130Pro)
c.758A>C (p.His253Pro)
c.581A>C (p.His194Pro)
c.578A>C (p.His193Pro)
c.410A>C (p.His137Pro)
11g.67490428A>GCA381551895AIPc.735A>G
c.569A>G (p.His190Arg)
n.1270A>G
c.469-569A>G (n.469-569A>G)
c.389A>G (p.His130Arg)
c.758A>G (p.His253Arg)
c.581A>G (p.His194Arg)
c.578A>G (p.His193Arg)
c.410A>G (p.His137Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490428A>TCA381551896AIPc.735A>T
c.569A>T (p.His190Leu)
n.1270A>T
c.469-569A>T (n.469-569A>T)
c.389A>T (p.His130Leu)
c.758A>T (p.His253Leu)
c.581A>T (p.His194Leu)
c.578A>T (p.His193Leu)
c.410A>T (p.His137Leu)
11g.67490429C>ACA381551897AIPc.736C>A
c.570C>A (p.His190Gln)
n.1271C>A
c.469-568C>A (n.469-568C>A)
c.390C>A (p.His130Gln)
c.759C>A (p.His253Gln)
c.582C>A (p.His194Gln)
c.579C>A (p.His193Gln)
c.411C>A (p.His137Gln)
11g.67490429C=CA1980172461AIPc.736C=
c.570C= (p.His190=)
n.1271C=
c.469-568C= (n.469-568C=)
c.390C= (p.His130=)
c.759C= (p.His253=)
c.582C= (p.His194=)
c.579C= (p.His193=)
c.411C= (p.His137=)
11g.67490429C>GCA6140930AIPc.736C>G
c.570C>G (p.His190Gln)
n.1271C>G
c.469-568C>G (n.469-568C>G)
c.390C>G (p.His130Gln)
c.759C>G (p.His253Gln)
c.582C>G (p.His194Gln)
c.579C>G (p.His193Gln)
c.411C>G (p.His137Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490429C>TCA475509289AIPc.736C>T
c.570C>T (p.His190=)
n.1271C>T
c.469-568C>T (n.469-568C>T)
c.390C>T (p.His130=)
c.759C>T (p.His253=)
c.582C>T (p.His194=)
c.579C>T (p.His193=)
c.411C>T (p.His137=)
11g.67490430T>ACA381551898AIPc.737T>A
c.571T>A (p.Cys191Ser)
n.1272T>A
c.469-567T>A (n.469-567T>A)
c.391T>A (p.Cys131Ser)
c.760T>A (p.Cys254Ser)
c.583T>A (p.Cys195Ser)
c.580T>A (p.Cys194Ser)
c.412T>A (p.Cys138Ser)
11g.67490430T>CCA381551899AIPc.737T>C
c.571T>C (p.Cys191Arg)
n.1272T>C
c.469-567T>C (n.469-567T>C)
c.391T>C (p.Cys131Arg)
c.760T>C (p.Cys254Arg)
c.583T>C (p.Cys195Arg)
c.580T>C (p.Cys194Arg)
c.412T>C (p.Cys138Arg)
11g.67490430T>GCA381551900AIPc.737T>G
c.571T>G (p.Cys191Gly)
n.1272T>G
c.469-567T>G (n.469-567T>G)
c.391T>G (p.Cys131Gly)
c.760T>G (p.Cys254Gly)
c.583T>G (p.Cys195Gly)
c.580T>G (p.Cys194Gly)
c.412T>G (p.Cys138Gly)
11g.67490431G>ACA381551901AIPc.738G>A
c.572G>A (p.Cys191Tyr)
n.1273G>A
c.469-566G>A (n.469-566G>A)
c.392G>A (p.Cys131Tyr)
c.761G>A (p.Cys254Tyr)
c.584G>A (p.Cys195Tyr)
c.581G>A (p.Cys194Tyr)
c.413G>A (p.Cys138Tyr)
 gnomAD v4
11g.67490431G>CCA381551902AIPc.738G>C
c.572G>C (p.Cys191Ser)
n.1273G>C
c.469-566G>C (n.469-566G>C)
c.392G>C (p.Cys131Ser)
c.761G>C (p.Cys254Ser)
c.584G>C (p.Cys195Ser)
c.581G>C (p.Cys194Ser)
c.413G>C (p.Cys138Ser)
11g.67490431G>TCA381551903AIPc.738G>T
c.572G>T (p.Cys191Phe)
n.1273G>T
c.469-566G>T (n.469-566G>T)
c.392G>T (p.Cys131Phe)
c.761G>T (p.Cys254Phe)
c.584G>T (p.Cys195Phe)
c.581G>T (p.Cys194Phe)
c.413G>T (p.Cys138Phe)
11g.67490432C>ACA381551905AIPc.739C>A
c.573C>A (p.Cys191Ter)
n.1274C>A
c.469-565C>A (n.469-565C>A)
c.393C>A (p.Cys131Ter)
c.762C>A (p.Cys254Ter)
c.585C>A (p.Cys195Ter)
c.582C>A (p.Cys194Ter)
c.414C>A (p.Cys138Ter)
11g.67490432C>GCA381551904AIPc.739C>G
c.573C>G (p.Cys191Trp)
n.1274C>G
c.469-565C>G (n.469-565C>G)
c.393C>G (p.Cys131Trp)
c.762C>G (p.Cys254Trp)
c.585C>G (p.Cys195Trp)
c.582C>G (p.Cys194Trp)
c.414C>G (p.Cys138Trp)
11g.67490432C>TCA475509292AIPc.739C>T
c.573C>T (p.Cys191=)
n.1274C>T
c.469-565C>T (n.469-565C>T)
c.393C>T (p.Cys131=)
c.762C>T (p.Cys254=)
c.585C>T (p.Cys195=)
c.582C>T (p.Cys194=)
c.414C>T (p.Cys138=)
11g.67490433T>ACA381551906AIPc.740T>A
c.574T>A (p.Ser192Thr)
n.1275T>A
c.469-564T>A (n.469-564T>A)
c.394T>A (p.Ser132Thr)
c.763T>A (p.Ser255Thr)
c.586T>A (p.Ser196Thr)
c.583T>A (p.Ser195Thr)
c.415T>A (p.Ser139Thr)
11g.67490433T>CCA381551907AIPc.740T>C
c.574T>C (p.Ser192Pro)
n.1275T>C
c.469-564T>C (n.469-564T>C)
c.394T>C (p.Ser132Pro)
c.763T>C (p.Ser255Pro)
c.586T>C (p.Ser196Pro)
c.583T>C (p.Ser195Pro)
c.415T>C (p.Ser139Pro)
11g.67490433T>GCA381551908AIPc.740T>G
c.574T>G (p.Ser192Ala)
n.1275T>G
c.469-564T>G (n.469-564T>G)
c.394T>G (p.Ser132Ala)
c.763T>G (p.Ser255Ala)
c.586T>G (p.Ser196Ala)
c.583T>G (p.Ser195Ala)
c.415T>G (p.Ser139Ala)
11g.67490434C>ACA381551909AIPc.741C>A
c.575C>A (p.Ser192Tyr)
n.1276C>A
c.469-563C>A (n.469-563C>A)
c.395C>A (p.Ser132Tyr)
c.764C>A (p.Ser255Tyr)
c.587C>A (p.Ser196Tyr)
c.584C>A (p.Ser195Tyr)
c.416C>A (p.Ser139Tyr)
11g.67490434C>GCA381551910AIPc.741C>G
c.575C>G (p.Ser192Cys)
n.1276C>G
c.469-563C>G (n.469-563C>G)
c.395C>G (p.Ser132Cys)
c.764C>G (p.Ser255Cys)
c.587C>G (p.Ser196Cys)
c.584C>G (p.Ser195Cys)
c.416C>G (p.Ser139Cys)
11g.67490434C>TCA381551911AIPc.741C>T
c.575C>T (p.Ser192Phe)
n.1276C>T
c.469-563C>T (n.469-563C>T)
c.395C>T (p.Ser132Phe)
c.764C>T (p.Ser255Phe)
c.587C>T (p.Ser196Phe)
c.584C>T (p.Ser195Phe)
c.416C>T (p.Ser139Phe)
11g.67490435T>ACA475509294AIPc.742T>A
c.576T>A (p.Ser192=)
n.1277T>A
c.469-562T>A (n.469-562T>A)
c.396T>A (p.Ser132=)
c.765T>A (p.Ser255=)
c.588T>A (p.Ser196=)
c.585T>A (p.Ser195=)
c.417T>A (p.Ser139=)
11g.67490435T>CCA475509296AIPc.742T>C
c.576T>C (p.Ser192=)
n.1277T>C
c.469-562T>C (n.469-562T>C)
c.396T>C (p.Ser132=)
c.765T>C (p.Ser255=)
c.588T>C (p.Ser196=)
c.585T>C (p.Ser195=)
c.417T>C (p.Ser139=)
11g.67490435T>GCA475509298AIPc.742T>G
c.576T>G (p.Ser192=)
n.1277T>G
c.469-562T>G (n.469-562T>G)
c.396T>G (p.Ser132=)
c.765T>G (p.Ser255=)
c.588T>G (p.Ser196=)
c.585T>G (p.Ser195=)
c.417T>G (p.Ser139=)
11g.67490436T>ACA381551912AIPc.743T>A
c.577T>A (p.Ser193Thr)
n.1278T>A
c.469-561T>A (n.469-561T>A)
c.397T>A (p.Ser133Thr)
c.766T>A (p.Ser256Thr)
c.589T>A (p.Ser197Thr)
c.586T>A (p.Ser196Thr)
c.418T>A (p.Ser140Thr)
11g.67490436T>CCA381551913AIPc.743T>C
c.577T>C (p.Ser193Pro)
n.1278T>C
c.469-561T>C (n.469-561T>C)
c.397T>C (p.Ser133Pro)
c.766T>C (p.Ser256Pro)
c.589T>C (p.Ser197Pro)
c.586T>C (p.Ser196Pro)
c.418T>C (p.Ser140Pro)
11g.67490436T>GCA381551914AIPc.743T>G
c.577T>G (p.Ser193Ala)
n.1278T>G
c.469-561T>G (n.469-561T>G)
c.397T>G (p.Ser133Ala)
c.766T>G (p.Ser256Ala)
c.589T>G (p.Ser197Ala)
c.586T>G (p.Ser196Ala)
c.418T>G (p.Ser140Ala)
11g.67490437C>ACA381551915AIPc.744C>A
c.578C>A (p.Ser193Tyr)
n.1279C>A
c.469-560C>A (n.469-560C>A)
c.398C>A (p.Ser133Tyr)
c.767C>A (p.Ser256Tyr)
c.590C>A (p.Ser197Tyr)
c.587C>A (p.Ser196Tyr)
c.419C>A (p.Ser140Tyr)
11g.67490437C>GCA381551916AIPc.744C>G
c.578C>G (p.Ser193Cys)
n.1279C>G
c.469-560C>G (n.469-560C>G)
c.398C>G (p.Ser133Cys)
c.767C>G (p.Ser256Cys)
c.590C>G (p.Ser197Cys)
c.587C>G (p.Ser196Cys)
c.419C>G (p.Ser140Cys)
11g.67490437C>TCA381551917AIPc.744C>T
c.578C>T (p.Ser193Phe)
n.1279C>T
c.469-560C>T (n.469-560C>T)
c.398C>T (p.Ser133Phe)
c.767C>T (p.Ser256Phe)
c.590C>T (p.Ser197Phe)
c.587C>T (p.Ser196Phe)
c.419C>T (p.Ser140Phe)
11g.67490438C>ACA475509302AIPc.745C>A
c.579C>A (p.Ser193=)
n.1280C>A
c.469-559C>A (n.469-559C>A)
c.399C>A (p.Ser133=)
c.768C>A (p.Ser256=)
c.591C>A (p.Ser197=)
c.588C>A (p.Ser196=)
c.420C>A (p.Ser140=)
11g.67490438C=CA1980172462AIPc.745C=
c.579C= (p.Ser193=)
n.1280C=
c.469-559C= (n.469-559C=)
c.399C= (p.Ser133=)
c.768C= (p.Ser256=)
c.591C= (p.Ser197=)
c.588C= (p.Ser196=)
c.420C= (p.Ser140=)
11g.67490438C>GCA475509303AIPc.745C>G
c.579C>G (p.Ser193=)
n.1280C>G
c.469-559C>G (n.469-559C>G)
c.399C>G (p.Ser133=)
c.768C>G (p.Ser256=)
c.591C>G (p.Ser197=)
c.588C>G (p.Ser196=)
c.420C>G (p.Ser140=)
11g.67490438C>TCA6140931AIPc.745C>T
c.579C>T (p.Ser193=)
n.1280C>T
c.469-559C>T (n.469-559C>T)
c.399C>T (p.Ser133=)
c.768C>T (p.Ser256=)
c.591C>T (p.Ser197=)
c.588C>T (p.Ser196=)
c.420C>T (p.Ser140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490439A=CA1980172463AIPc.746A=
c.580A= (p.Ile194=)
n.1281A=
c.469-558A= (n.469-558A=)
c.400A= (p.Ile134=)
c.769A= (p.Ile257=)
c.592A= (p.Ile198=)
c.589A= (p.Ile197=)
c.421A= (p.Ile141=)
11g.67490439A>CCA381551919AIPc.746A>C
c.580A>C (p.Ile194Leu)
n.1281A>C
c.469-558A>C (n.469-558A>C)
c.400A>C (p.Ile134Leu)
c.769A>C (p.Ile257Leu)
c.592A>C (p.Ile198Leu)
c.589A>C (p.Ile197Leu)
c.421A>C (p.Ile141Leu)
 gnomAD v4
11g.67490439A>GCA344179AIPc.746A>G
c.580A>G (p.Ile194Val)
n.1281A>G
c.469-558A>G (n.469-558A>G)
c.400A>G (p.Ile134Val)
c.769A>G (p.Ile257Val)
c.592A>G (p.Ile198Val)
c.589A>G (p.Ile197Val)
c.421A>G (p.Ile141Val)
 ClinVar dbSNP gnomAD v4
11g.67490439A>TCA381551918AIPc.746A>T
c.580A>T (p.Ile194Phe)
n.1281A>T
c.469-558A>T (n.469-558A>T)
c.400A>T (p.Ile134Phe)
c.769A>T (p.Ile257Phe)
c.592A>T (p.Ile198Phe)
c.589A>T (p.Ile197Phe)
c.421A>T (p.Ile141Phe)
11g.67490440T>ACA381551920AIPc.747T>A
c.581T>A (p.Ile194Asn)
n.1282T>A
c.469-557T>A (n.469-557T>A)
c.401T>A (p.Ile134Asn)
c.770T>A (p.Ile257Asn)
c.593T>A (p.Ile198Asn)
c.590T>A (p.Ile197Asn)
c.422T>A (p.Ile141Asn)
11g.67490440T>CCA381551921AIPc.747T>C
c.581T>C (p.Ile194Thr)
n.1282T>C
c.469-557T>C (n.469-557T>C)
c.401T>C (p.Ile134Thr)
c.770T>C (p.Ile257Thr)
c.593T>C (p.Ile198Thr)
c.590T>C (p.Ile197Thr)
c.422T>C (p.Ile141Thr)
11g.67490440T>GCA381551922AIPc.747T>G
c.581T>G (p.Ile194Ser)
n.1282T>G
c.469-557T>G (n.469-557T>G)
c.401T>G (p.Ile134Ser)
c.770T>G (p.Ile257Ser)
c.593T>G (p.Ile198Ser)
c.590T>G (p.Ile197Ser)
c.422T>G (p.Ile141Ser)
 ClinVar
11g.67490441C>ACA475509306AIPc.748C>A
c.582C>A (p.Ile194=)
n.1283C>A
c.469-556C>A (n.469-556C>A)
c.402C>A (p.Ile134=)
c.771C>A (p.Ile257=)
c.594C>A (p.Ile198=)
c.591C>A (p.Ile197=)
c.423C>A (p.Ile141=)
 ClinVar
11g.67490441C=CA1980172464AIPc.748C=
c.582C= (p.Ile194=)
n.1283C=
c.469-556C= (n.469-556C=)
c.402C= (p.Ile134=)
c.771C= (p.Ile257=)
c.594C= (p.Ile198=)
c.591C= (p.Ile197=)
c.423C= (p.Ile141=)
11g.67490441C>GCA381551923AIPc.748C>G
c.582C>G (p.Ile194Met)
n.1283C>G
c.469-556C>G (n.469-556C>G)
c.402C>G (p.Ile134Met)
c.771C>G (p.Ile257Met)
c.594C>G (p.Ile198Met)
c.591C>G (p.Ile197Met)
c.423C>G (p.Ile141Met)
11g.67490441C>TCA475509307AIPc.748C>T
c.582C>T (p.Ile194=)
n.1283C>T
c.469-556C>T (n.469-556C>T)
c.402C>T (p.Ile134=)
c.771C>T (p.Ile257=)
c.594C>T (p.Ile198=)
c.591C>T (p.Ile197=)
c.423C>T (p.Ile141=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67490442C>ACA381551924AIPc.749C>A
c.583C>A (p.Leu195Ile)
n.1284C>A
c.469-555C>A (n.469-555C>A)
c.403C>A (p.Leu135Ile)
c.772C>A (p.Leu258Ile)
c.595C>A (p.Leu199Ile)
c.592C>A (p.Leu198Ile)
c.424C>A (p.Leu142Ile)
11g.67490442C=CA1980172465AIPc.749C=
c.583C= (p.Leu195=)
n.1284C=
c.469-555C= (n.469-555C=)
c.403C= (p.Leu135=)
c.772C= (p.Leu258=)
c.595C= (p.Leu199=)
c.592C= (p.Leu198=)
c.424C= (p.Leu142=)
11g.67490442C>GCA381551925AIPc.749C>G
c.583C>G (p.Leu195Val)
n.1284C>G
c.469-555C>G (n.469-555C>G)
c.403C>G (p.Leu135Val)
c.772C>G (p.Leu258Val)
c.595C>G (p.Leu199Val)
c.592C>G (p.Leu198Val)
c.424C>G (p.Leu142Val)
11g.67490442C>TCA6140932AIPc.749C>T
c.583C>T (p.Leu195Phe)
n.1284C>T
c.469-555C>T (n.469-555C>T)
c.403C>T (p.Leu135Phe)
c.772C>T (p.Leu258Phe)
c.595C>T (p.Leu199Phe)
c.592C>T (p.Leu198Phe)
c.424C>T (p.Leu142Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490443T>ACA381551926AIPc.750T>A
c.584T>A (p.Leu195His)
n.1285T>A
c.469-554T>A (n.469-554T>A)
c.404T>A (p.Leu135His)
c.773T>A (p.Leu258His)
c.596T>A (p.Leu199His)
c.593T>A (p.Leu198His)
c.425T>A (p.Leu142His)
11g.67490443T>CCA381551927AIPc.750T>C
c.584T>C (p.Leu195Pro)
n.1285T>C
c.469-554T>C (n.469-554T>C)
c.404T>C (p.Leu135Pro)
c.773T>C (p.Leu258Pro)
c.596T>C (p.Leu199Pro)
c.593T>C (p.Leu198Pro)
c.425T>C (p.Leu142Pro)
11g.67490443T>GCA381551928AIPc.750T>G
c.584T>G (p.Leu195Arg)
n.1285T>G
c.469-554T>G (n.469-554T>G)
c.404T>G (p.Leu135Arg)
c.773T>G (p.Leu258Arg)
c.596T>G (p.Leu199Arg)
c.593T>G (p.Leu198Arg)
c.425T>G (p.Leu142Arg)
11g.67490444C>ACA475509312AIPc.751C>A
c.585C>A (p.Leu195=)
n.1286C>A
c.469-553C>A (n.469-553C>A)
c.405C>A (p.Leu135=)
c.774C>A (p.Leu258=)
c.597C>A (p.Leu199=)
c.594C>A (p.Leu198=)
c.426C>A (p.Leu142=)
 ClinVar gnomAD v4
11g.67490444C=CA1980172466AIPc.751C=
c.585C= (p.Leu195=)
n.1286C=
c.469-553C= (n.469-553C=)
c.405C= (p.Leu135=)
c.774C= (p.Leu258=)
c.597C= (p.Leu199=)
c.594C= (p.Leu198=)
c.426C= (p.Leu142=)
11g.67490444C>GCA475509313AIPc.751C>G
c.585C>G (p.Leu195=)
n.1286C>G
c.469-553C>G (n.469-553C>G)
c.405C>G (p.Leu135=)
c.774C>G (p.Leu258=)
c.597C>G (p.Leu199=)
c.594C>G (p.Leu198=)
c.426C>G (p.Leu142=)
11g.67490444C>TCA224165448AIPc.751C>T
c.585C>T (p.Leu195=)
n.1286C>T
c.469-553C>T (n.469-553C>T)
c.405C>T (p.Leu135=)
c.774C>T (p.Leu258=)
c.597C>T (p.Leu199=)
c.594C>T (p.Leu198=)
c.426C>T (p.Leu142=)
 ClinVar dbSNP gnomAD v4
11g.67490445A=CA1980172467AIPc.752A=
c.586A= (p.Asn196=)
n.1287A=
c.469-552A= (n.469-552A=)
c.406A= (p.Asn136=)
c.775A= (p.Asn259=)
c.598A= (p.Asn200=)
c.595A= (p.Asn199=)
c.427A= (p.Asn143=)
11g.67490445A>CCA381551929AIPc.752A>C
c.586A>C (p.Asn196His)
n.1287A>C
c.469-552A>C (n.469-552A>C)
c.406A>C (p.Asn136His)
c.775A>C (p.Asn259His)
c.598A>C (p.Asn200His)
c.595A>C (p.Asn199His)
c.427A>C (p.Asn143His)
11g.67490445A>GCA381551930AIPc.752A>G
c.586A>G (p.Asn196Asp)
n.1287A>G
c.469-552A>G (n.469-552A>G)
c.406A>G (p.Asn136Asp)
c.775A>G (p.Asn259Asp)
c.598A>G (p.Asn200Asp)
c.595A>G (p.Asn199Asp)
c.427A>G (p.Asn143Asp)
 dbSNP gnomAD v4
11g.67490445A>TCA381551931AIPc.752A>T
c.586A>T (p.Asn196Tyr)
n.1287A>T
c.469-552A>T (n.469-552A>T)
c.406A>T (p.Asn136Tyr)
c.775A>T (p.Asn259Tyr)
c.598A>T (p.Asn200Tyr)
c.595A>T (p.Asn199Tyr)
c.427A>T (p.Asn143Tyr)
11g.67490446A>CCA381551934AIPc.753A>C
c.587A>C (p.Asn196Thr)
n.1288A>C
c.469-551A>C (n.469-551A>C)
c.407A>C (p.Asn136Thr)
c.776A>C (p.Asn259Thr)
c.599A>C (p.Asn200Thr)
c.596A>C (p.Asn199Thr)
c.428A>C (p.Asn143Thr)
11g.67490446A>GCA381551933AIPc.753A>G
c.587A>G (p.Asn196Ser)
n.1288A>G
c.469-551A>G (n.469-551A>G)
c.407A>G (p.Asn136Ser)
c.776A>G (p.Asn259Ser)
c.599A>G (p.Asn200Ser)
c.596A>G (p.Asn199Ser)
c.428A>G (p.Asn143Ser)
 ClinVar dbSNP gnomAD v4
11g.67490446A>TCA381551932AIPc.753A>T
c.587A>T (p.Asn196Ile)
n.1288A>T
c.469-551A>T (n.469-551A>T)
c.407A>T (p.Asn136Ile)
c.776A>T (p.Asn259Ile)
c.599A>T (p.Asn200Ile)
c.596A>T (p.Asn199Ile)
c.428A>T (p.Asn143Ile)
11g.67490447C>ACA381551935AIPc.754C>A
c.588C>A (p.Asn196Lys)
n.1289C>A
c.469-550C>A (n.469-550C>A)
c.408C>A (p.Asn136Lys)
c.777C>A (p.Asn259Lys)
c.600C>A (p.Asn200Lys)
c.597C>A (p.Asn199Lys)
c.429C>A (p.Asn143Lys)
 dbSNP gnomAD v2 gnomAD v4
11g.67490447C=CA1980172468AIPc.754C=
c.588C= (p.Asn196=)
n.1289C=
c.469-550C= (n.469-550C=)
c.408C= (p.Asn136=)
c.777C= (p.Asn259=)
c.600C= (p.Asn200=)
c.597C= (p.Asn199=)
c.429C= (p.Asn143=)
11g.67490447C>GCA381551936AIPc.754C>G
c.588C>G (p.Asn196Lys)
n.1289C>G
c.469-550C>G (n.469-550C>G)
c.408C>G (p.Asn136Lys)
c.777C>G (p.Asn259Lys)
c.600C>G (p.Asn200Lys)
c.597C>G (p.Asn199Lys)
c.429C>G (p.Asn143Lys)
 ClinVar
11g.67490447C>TCA475509318AIPc.754C>T
c.588C>T (p.Asn196=)
n.1289C>T
c.469-550C>T (n.469-550C>T)
c.408C>T (p.Asn136=)
c.777C>T (p.Asn259=)
c.600C>T (p.Asn200=)
c.597C>T (p.Asn199=)
c.429C>T (p.Asn143=)
 ClinVar gnomAD v4
11g.67490448A>CCA381551937AIPc.755A>C
c.589A>C (p.Lys197Gln)
n.1290A>C
c.469-549A>C (n.469-549A>C)
c.409A>C (p.Lys137Gln)
c.778A>C (p.Lys260Gln)
c.601A>C (p.Lys201Gln)
c.598A>C (p.Lys200Gln)
c.430A>C (p.Lys144Gln)
11g.67490448A>GCA381551938AIPc.755A>G
c.589A>G (p.Lys197Glu)
n.1290A>G
c.469-549A>G (n.469-549A>G)
c.409A>G (p.Lys137Glu)
c.778A>G (p.Lys260Glu)
c.601A>G (p.Lys201Glu)
c.598A>G (p.Lys200Glu)
c.430A>G (p.Lys144Glu)
11g.67490448A>TCA381551939AIPc.755A>T
c.589A>T (p.Lys197Ter)
n.1290A>T
c.469-549A>T (n.469-549A>T)
c.409A>T (p.Lys137Ter)
c.778A>T (p.Lys260Ter)
c.601A>T (p.Lys201Ter)
c.598A>T (p.Lys200Ter)
c.430A>T (p.Lys144Ter)
11g.67490449delCA2695214806AIPc.756del
c.590del (p.Lys197SerfsTer?)
n.1291del
c.469-548del (n.469-548del)
c.410del (p.Lys137SerfsTer?)
c.779del (p.Lys260SerfsTer?)
c.779del (p.Lys260AsnfsTer?)
c.602del (p.Lys201SerfsTer?)
c.599del (p.Lys200SerfsTer?)
c.431del (p.Lys144SerfsTer?)
11g.67490449A>CCA381551940AIPc.756A>C
c.590A>C (p.Lys197Thr)
n.1291A>C
c.469-548A>C (n.469-548A>C)
c.410A>C (p.Lys137Thr)
c.779A>C (p.Lys260Thr)
c.602A>C (p.Lys201Thr)
c.599A>C (p.Lys200Thr)
c.431A>C (p.Lys144Thr)
11g.67490449A>GCA381551941AIPc.756A>G
c.590A>G (p.Lys197Arg)
n.1291A>G
c.469-548A>G (n.469-548A>G)
c.410A>G (p.Lys137Arg)
c.779A>G (p.Lys260Arg)
c.602A>G (p.Lys201Arg)
c.599A>G (p.Lys200Arg)
c.431A>G (p.Lys144Arg)
11g.67490449A>TCA381551942AIPc.756A>T
c.590A>T (p.Lys197Met)
n.1291A>T
c.469-548A>T (n.469-548A>T)
c.410A>T (p.Lys137Met)
c.779A>T (p.Lys260Met)
c.779A>T (p.Lys260Ile)
c.602A>T (p.Lys201Met)
c.599A>T (p.Lys200Met)
c.431A>T (p.Lys144Met)
11g.67490450G>ACA475509320AIPc.757G>A
c.591G>A (p.Lys197=)
n.1292G>A
c.469-547G>A (n.469-547G>A)
c.411G>A (p.Lys137=)
c.780G>A (p.Lys260=)
c.779+1G>A (n.779+1G>A)
c.603G>A (p.Lys201=)
c.600G>A (p.Lys200=)
c.432G>A (p.Lys144=)
 ClinVar dbSNP gnomAD v4
11g.67490450G>CCA6140933AIPc.757G>C
c.591G>C (p.Lys197Asn)
n.1292G>C
c.469-547G>C (n.469-547G>C)
c.411G>C (p.Lys137Asn)
c.780G>C (p.Lys260Asn)
c.779+1G>C (n.779+1G>C)
c.603G>C (p.Lys201Asn)
c.600G>C (p.Lys200Asn)
c.432G>C (p.Lys144Asn)
 ClinVar dbSNP ExAC gnomAD v2
11g.67490450G=CA1980172469AIPc.757G=
c.591G= (p.Lys197=)
n.1292G=
c.469-547G= (n.469-547G=)
c.411G= (p.Lys137=)
c.780G= (p.Lys260=)
c.779+1G= (n.779+1G=)
c.603G= (p.Lys201=)
c.600G= (p.Lys200=)
c.432G= (p.Lys144=)
11g.67490450G>TCA381551943AIPc.757G>T
c.591G>T (p.Lys197Asn)
n.1292G>T
c.469-547G>T (n.469-547G>T)
c.411G>T (p.Lys137Asn)
c.780G>T (p.Lys260Asn)
c.779+1G>T (n.779+1G>T)
c.603G>T (p.Lys201Asn)
c.600G>T (p.Lys200Asn)
c.432G>T (p.Lys144Asn)
11g.67490451T>ACA381551944AIPc.758T>A
c.592T>A (p.Tyr198Asn)
n.1293T>A
c.469-546T>A (n.469-546T>A)
c.412T>A (p.Tyr138Asn)
c.781T>A (p.Tyr261Asn)
c.779+2T>A (n.779+2T>A)
c.604T>A (p.Tyr202Asn)
c.601T>A (p.Tyr201Asn)
c.433T>A (p.Tyr145Asn)
11g.67490451T>CCA381551945AIPc.758T>C
c.592T>C (p.Tyr198His)
n.1293T>C
c.469-546T>C (n.469-546T>C)
c.412T>C (p.Tyr138His)
c.781T>C (p.Tyr261His)
c.779+2T>C (n.779+2T>C)
c.604T>C (p.Tyr202His)
c.601T>C (p.Tyr201His)
c.433T>C (p.Tyr145His)
 gnomAD v4 COSMIC
11g.67490451T>GCA381551946AIPc.758T>G
c.592T>G (p.Tyr198Asp)
n.1293T>G
c.469-546T>G (n.469-546T>G)
c.412T>G (p.Tyr138Asp)
c.781T>G (p.Tyr261Asp)
c.779+2T>G (n.779+2T>G)
c.604T>G (p.Tyr202Asp)
c.601T>G (p.Tyr201Asp)
c.433T>G (p.Tyr145Asp)
11g.67490451_67490454delinsTACGCA1980172470AIPc.758_761delinsTACG
c.592_595delinsTACG (p.Tyr198=)
n.1293_1296delinsTACG
c.469-546_469-543delinsTACG (n.469-546_469-543delinsTACG)
c.412_415delinsTACG (p.Tyr138=)
c.781_784delinsTACG (p.Tyr261=)
c.779+2_779+5delinsTACG (n.779+2_779+5delinsTACG)
c.604_607delinsTACG (p.Tyr202=)
c.601_604delinsTACG (p.Tyr201=)
c.433_436delinsTACG (p.Tyr145=)
11g.67490452A=CA1980172471AIPc.759A=
c.593A= (p.Tyr198=)
n.1294A=
c.469-545A= (n.469-545A=)
c.413A= (p.Tyr138=)
c.782A= (p.Tyr261=)
c.779+3A= (n.779+3A=)
c.605A= (p.Tyr202=)
c.602A= (p.Tyr201=)
c.434A= (p.Tyr145=)
11g.67490452A>CCA381551948AIPc.759A>C
c.593A>C (p.Tyr198Ser)
n.1294A>C
c.469-545A>C (n.469-545A>C)
c.413A>C (p.Tyr138Ser)
c.782A>C (p.Tyr261Ser)
c.779+3A>C (n.779+3A>C)
c.605A>C (p.Tyr202Ser)
c.602A>C (p.Tyr201Ser)
c.434A>C (p.Tyr145Ser)
11g.67490452A>GCA224165453AIPc.759A>G
c.593A>G (p.Tyr198Cys)
n.1294A>G
c.469-545A>G (n.469-545A>G)
c.413A>G (p.Tyr138Cys)
c.782A>G (p.Tyr261Cys)
c.779+3A>G (n.779+3A>G)
c.605A>G (p.Tyr202Cys)
c.602A>G (p.Tyr201Cys)
c.434A>G (p.Tyr145Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490452A>TCA381551947AIPc.759A>T
c.593A>T (p.Tyr198Phe)
n.1294A>T
c.469-545A>T (n.469-545A>T)
c.413A>T (p.Tyr138Phe)
c.782A>T (p.Tyr261Phe)
c.779+3A>T (n.779+3A>T)
c.605A>T (p.Tyr202Phe)
c.602A>T (p.Tyr201Phe)
c.434A>T (p.Tyr145Phe)
11g.67490452dupCA2614624261AIPc.759dup
c.593dup (p.Tyr198Ter)
n.1294dup
c.469-545dup (n.469-545dup)
c.413dup (p.Tyr138Ter)
c.782dup (p.Tyr261Ter)
c.779+3dup (n.779+3dup)
c.605dup (p.Tyr202Ter)
c.602dup (p.Tyr201Ter)
c.434dup (p.Tyr145Ter)
 gnomAD v4
11g.67490455_67490457delCA6140934AIPc.762_764del
c.596_598del (p.Asp200del)
n.1297_1299del
c.469-542_469-540del (n.469-542_469-540del)
c.416_418del (p.Asp140del)
c.785_787del (p.Asp263del)
c.779+6_779+8del (n.779+6_779+8del)
c.608_610del (p.Asp204del)
c.785_787del (p.Asp262del)
c.605_607del (p.Asp203del)
c.437_439del (p.Asp146del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched