Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.58273547_58273558delCA2638968766MPOn.811_822del
c.603_614del (n.603_614del)
n.518_529del
c.1478_1489del (p.Val493_Asn496del)
c.1664_1675del (p.Val555_Asn558del)
c.1193_1204del (p.Val398_Asn401del)
c.*27_*38del (n.*27_*38del)
gnomAD v4
17g.58273555A>CCA400370194MPOn.813T>G
c.605T>G (n.605T>G)
n.520T>G
c.1480T>G (p.Phe494Val)
c.1666T>G (p.Phe556Val)
c.1195T>G (p.Phe399Val)
c.*29T>G (n.*29T>G)
17g.58273555A>GCA400370195MPOn.813T>C
c.605T>C (n.605T>C)
n.520T>C
c.1480T>C (p.Phe494Leu)
c.1666T>C (p.Phe556Leu)
c.1195T>C (p.Phe399Leu)
c.*29T>C (n.*29T>C)
17g.58273555A>TCA400370197MPOn.813T>A
c.605T>A (n.605T>A)
n.520T>A
c.1480T>A (p.Phe494Ile)
c.1666T>A (p.Phe556Ile)
c.1195T>A (p.Phe399Ile)
c.*29T>A (n.*29T>A)
17g.58273556G>ACA8670622MPOn.812C>T
c.604C>T (n.604C>T)
n.519C>T
c.1479C>T (p.Val493=)
c.1665C>T (p.Val555=)
c.1194C>T (p.Val398=)
c.*28C>T (n.*28C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273556G>CCA501022868MPOn.812C>G
c.604C>G (n.604C>G)
n.519C>G
c.1479C>G (p.Val493=)
c.1665C>G (p.Val555=)
c.1194C>G (p.Val398=)
c.*28C>G (n.*28C>G)
17g.58273556G=CA2267631313MPOn.812C=
c.604C= (n.604C=)
n.519C=
c.1479C= (p.Val493=)
c.1665C= (p.Val555=)
c.1194C= (p.Val398=)
c.*28C= (n.*28C=)
17g.58273556G>TCA501022871MPOn.812C>A
c.604C>A (n.604C>A)
n.519C>A
c.1479C>A (p.Val493=)
c.1665C>A (p.Val555=)
c.1194C>A (p.Val398=)
c.*28C>A (n.*28C>A)
17g.58273557A>CCA400370199MPOn.811T>G
c.603T>G (n.603T>G)
n.518T>G
c.1478T>G (p.Val493Gly)
c.1664T>G (p.Val555Gly)
c.1193T>G (p.Val398Gly)
c.*27T>G (n.*27T>G)
17g.58273557A>GCA400370201MPOn.811T>C
c.603T>C (n.603T>C)
n.518T>C
c.1478T>C (p.Val493Ala)
c.1664T>C (p.Val555Ala)
c.1193T>C (p.Val398Ala)
c.*27T>C (n.*27T>C)
17g.58273557A>TCA400370202MPOn.811T>A
c.603T>A (n.603T>A)
n.518T>A
c.1478T>A (p.Val493Asp)
c.1664T>A (p.Val555Asp)
c.1193T>A (p.Val398Asp)
c.*27T>A (n.*27T>A)
17g.58273558C>ACA400370206MPOn.810G>T
c.602G>T (n.602G>T)
n.517G>T
c.1477G>T (p.Val493Phe)
c.1663G>T (p.Val555Phe)
c.1192G>T (p.Val398Phe)
c.*26G>T (n.*26G>T)
17g.58273558C=CA2267631314MPOn.810G=
c.602G= (n.602G=)
n.517G=
c.1477G= (p.Val493=)
c.1663G= (p.Val555=)
c.1192G= (p.Val398=)
c.*26G= (n.*26G=)
17g.58273558C>GCA400370205MPOn.810G>C
c.602G>C (n.602G>C)
n.517G>C
c.1477G>C (p.Val493Leu)
c.1663G>C (p.Val555Leu)
c.1192G>C (p.Val398Leu)
c.*26G>C (n.*26G>C)
17g.58273558C>TCA8670623MPOn.810G>A
c.602G>A (n.602G>A)
n.517G>A
c.1477G>A (p.Val493Ile)
c.1663G>A (p.Val555Ile)
c.1192G>A (p.Val398Ile)
c.*26G>A (n.*26G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273559G>ACA8670624MPOn.809C>T
c.601C>T (n.601C>T)
n.516C>T
c.1476C>T (p.Asn492=)
c.1662C>T (p.Asn554=)
c.1191C>T (p.Asn397=)
c.*25C>T (n.*25C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273559G>CCA292012331MPOn.809C>G
c.601C>G (n.601C>G)
n.516C>G
c.1476C>G (p.Asn492Lys)
c.1662C>G (p.Asn554Lys)
c.1191C>G (p.Asn397Lys)
c.*25C>G (n.*25C>G)
dbSNP gnomAD v2 gnomAD v4
17g.58273559G=CA2267631315MPOn.809C=
c.601C= (n.601C=)
n.516C=
c.1476C= (p.Asn492=)
c.1662C= (p.Asn554=)
c.1191C= (p.Asn397=)
c.*25C= (n.*25C=)
17g.58273559G>TCA400370208MPOn.809C>A
c.601C>A (n.601C>A)
n.516C>A
c.1476C>A (p.Asn492Lys)
c.1662C>A (p.Asn554Lys)
c.1191C>A (p.Asn397Lys)
c.*25C>A (n.*25C>A)
17g.58273560T>ACA400370209MPOn.808A>T
c.600A>T (n.600A>T)
n.515A>T
c.1475A>T (p.Asn492Ile)
c.1661A>T (p.Asn554Ile)
c.1190A>T (p.Asn397Ile)
c.*24A>T (n.*24A>T)
17g.58273560T>CCA8670625MPOn.808A>G
c.600A>G (n.600A>G)
n.515A>G
c.1475A>G (p.Asn492Ser)
c.1661A>G (p.Asn554Ser)
c.1190A>G (p.Asn397Ser)
c.*24A>G (n.*24A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273560T>GCA400370211MPOn.808A>C
c.600A>C (n.600A>C)
n.515A>C
c.1475A>C (p.Asn492Thr)
c.1661A>C (p.Asn554Thr)
c.1190A>C (p.Asn397Thr)
c.*24A>C (n.*24A>C)
17g.58273560T=CA2267631316MPOn.808A=
c.600A= (n.600A=)
n.515A=
c.1475A= (p.Asn492=)
c.1661A= (p.Asn554=)
c.1190A= (p.Asn397=)
c.*24A= (n.*24A=)
17g.58273561T>ACA400370213MPOn.807A>T
c.599A>T (n.599A>T)
n.514A>T
c.1474A>T (p.Asn492Tyr)
c.1660A>T (p.Asn554Tyr)
c.1189A>T (p.Asn397Tyr)
c.*23A>T (n.*23A>T)
17g.58273561T>CCA400370214MPOn.807A>G
c.599A>G (n.599A>G)
n.514A>G
c.1474A>G (p.Asn492Asp)
c.1660A>G (p.Asn554Asp)
c.1189A>G (p.Asn397Asp)
c.*23A>G (n.*23A>G)
17g.58273561T>GCA400370216MPOn.807A>C
c.599A>C (n.599A>C)
n.514A>C
c.1474A>C (p.Asn492His)
c.1660A>C (p.Asn554His)
c.1189A>C (p.Asn397His)
c.*23A>C (n.*23A>C)
17g.58273562G>ACA501022888MPOn.806C>T
c.598C>T (n.598C>T)
n.513C>T
c.1473C>T (p.Ala491=)
c.1659C>T (p.Ala553=)
c.1188C>T (p.Ala396=)
c.*22C>T (n.*22C>T)
17g.58273562G>CCA501022891MPOn.806C>G
c.598C>G (n.598C>G)
n.513C>G
c.1473C>G (p.Ala491=)
c.1659C>G (p.Ala553=)
c.1188C>G (p.Ala396=)
c.*22C>G (n.*22C>G)
17g.58273562G>TCA501022892MPOn.806C>A
c.598C>A (n.598C>A)
n.513C>A
c.1473C>A (p.Ala491=)
c.1659C>A (p.Ala553=)
c.1188C>A (p.Ala396=)
c.*22C>A (n.*22C>A)
17g.58273562_58273567delinsGGCGATCA2267631317MPOn.801_806delinsATCGCC
c.593_598delinsATCGCC (n.593_598delinsATCGCC)
n.508_513delinsATCGCC
c.1468_1473delinsATCGCC (p.Ile490=)
c.1654_1659delinsATCGCC (p.Ile552=)
c.1183_1188delinsATCGCC (p.Ile395=)
c.*17_*22delinsATCGCC (n.*17_*22delinsATCGCC)
17g.58273563G>ACA400370218MPOn.805C>T
c.597C>T (n.597C>T)
n.512C>T
c.1472C>T (p.Ala491Val)
c.1658C>T (p.Ala553Val)
c.1187C>T (p.Ala396Val)
c.*21C>T (n.*21C>T)
dbSNP
17g.58273563G>CCA400370220MPOn.805C>G
c.597C>G (n.597C>G)
n.512C>G
c.1472C>G (p.Ala491Gly)
c.1658C>G (p.Ala553Gly)
c.1187C>G (p.Ala396Gly)
c.*21C>G (n.*21C>G)
17g.58273563G=CA2267631318MPOn.805C=
c.597C= (n.597C=)
n.512C=
c.1472C= (p.Ala491=)
c.1658C= (p.Ala553=)
c.1187C= (p.Ala396=)
c.*21C= (n.*21C=)
17g.58273563G>TCA400370221MPOn.805C>A
c.597C>A (n.597C>A)
n.512C>A
c.1472C>A (p.Ala491Asp)
c.1658C>A (p.Ala553Asp)
c.1187C>A (p.Ala396Asp)
c.*21C>A (n.*21C>A)
17g.58273566_58273570delCA773506109MPOn.801_805del
c.593_597del (n.593_597del)
n.508_512del
c.1468_1472del (p.Ile490GlnfsTer?)
c.1654_1658del (p.Ile552GlnfsTer?)
c.1183_1187del (p.Ile395GlnfsTer?)
c.*17_*21del (n.*17_*21del)
dbSNP
17g.58273564C>ACA400370222MPOn.804G>T
c.596G>T (n.596G>T)
n.511G>T
c.1471G>T (p.Ala491Ser)
c.1657G>T (p.Ala553Ser)
c.1186G>T (p.Ala396Ser)
c.*20G>T (n.*20G>T)
dbSNP
17g.58273564C=CA2267631319MPOn.804G=
c.596G= (n.596G=)
n.511G=
c.1471G= (p.Ala491=)
c.1657G= (p.Ala553=)
c.1186G= (p.Ala396=)
c.*20G= (n.*20G=)
17g.58273564C>GCA400370223MPOn.804G>C
c.596G>C (n.596G>C)
n.511G>C
c.1471G>C (p.Ala491Pro)
c.1657G>C (p.Ala553Pro)
c.1186G>C (p.Ala396Pro)
c.*20G>C (n.*20G>C)
17g.58273564C>TCA8670626MPOn.804G>A
c.596G>A (n.596G>A)
n.511G>A
c.1471G>A (p.Ala491Thr)
c.1657G>A (p.Ala553Thr)
c.1186G>A (p.Ala396Thr)
c.*20G>A (n.*20G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273565G>ACA8670627MPOn.803C>T
c.595C>T (n.595C>T)
n.510C>T
c.1470C>T (p.Ile490=)
c.1656C>T (p.Ile552=)
c.1185C>T (p.Ile395=)
c.*19C>T (n.*19C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.58273565G>CCA400370226MPOn.803C>G
c.595C>G (n.595C>G)
n.510C>G
c.1470C>G (p.Ile490Met)
c.1656C>G (p.Ile552Met)
c.1185C>G (p.Ile395Met)
c.*19C>G (n.*19C>G)
17g.58273565G=CA2267631320MPOn.803C=
c.595C= (n.595C=)
n.510C=
c.1470C= (p.Ile490=)
c.1656C= (p.Ile552=)
c.1185C= (p.Ile395=)
c.*19C= (n.*19C=)
17g.58273565G>TCA8670628MPOn.803C>A
c.595C>A (n.595C>A)
n.510C>A
c.1470C>A (p.Ile490=)
c.1656C>A (p.Ile552=)
c.1185C>A (p.Ile395=)
c.*19C>A (n.*19C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273565_58273570dupCA2638968861MPOn.798_803dup
c.590_595dup (n.590_595dup)
n.505_510dup
c.1465_1470dup (p.Ile490_Ala491insArgIle)
c.1651_1656dup (p.Ile552_Ala553insArgIle)
c.1180_1185dup (p.Ile395_Ala396insArgIle)
c.*14_*19dup (n.*14_*19dup)
gnomAD v4
17g.58273566A>CCA400370229MPOn.802T>G
c.594T>G (n.594T>G)
n.509T>G
c.1469T>G (p.Ile490Ser)
c.1655T>G (p.Ile552Ser)
c.1184T>G (p.Ile395Ser)
c.*18T>G (n.*18T>G)
17g.58273566A>GCA400370231MPOn.802T>C
c.594T>C (n.594T>C)
n.509T>C
c.1469T>C (p.Ile490Thr)
c.1655T>C (p.Ile552Thr)
c.1184T>C (p.Ile395Thr)
c.*18T>C (n.*18T>C)
17g.58273566A>TCA400370233MPOn.802T>A
c.594T>A (n.594T>A)
n.509T>A
c.1469T>A (p.Ile490Asn)
c.1655T>A (p.Ile552Asn)
c.1184T>A (p.Ile395Asn)
c.*18T>A (n.*18T>A)
17g.58273567T>ACA400370234MPOn.801A>T
c.593A>T (n.593A>T)
n.508A>T
c.1468A>T (p.Ile490Phe)
c.1654A>T (p.Ile552Phe)
c.1183A>T (p.Ile395Phe)
c.*17A>T (n.*17A>T)
17g.58273567T>CCA8670629MPOn.801A>G
c.593A>G (n.593A>G)
n.508A>G
c.1468A>G (p.Ile490Val)
c.1654A>G (p.Ile552Val)
c.1183A>G (p.Ile395Val)
c.*17A>G (n.*17A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273567T>GCA400370236MPOn.801A>C
c.593A>C (n.593A>C)
n.508A>C
c.1468A>C (p.Ile490Leu)
c.1654A>C (p.Ile552Leu)
c.1183A>C (p.Ile395Leu)
c.*17A>C (n.*17A>C)
17g.58273567T=CA2267631321MPOn.801A=
c.593A= (n.593A=)
n.508A=
c.1468A= (p.Ile490=)
c.1654A= (p.Ile552=)
c.1183A= (p.Ile395=)
c.*17A= (n.*17A=)
17g.58273568G>ACA501022921MPOn.800C>T
c.592C>T (n.592C>T)
n.507C>T
c.1467C>T (p.Arg489=)
c.1653C>T (p.Arg551=)
c.1182C>T (p.Arg394=)
c.*16C>T (n.*16C>T)
17g.58273568G>CCA501022924MPOn.800C>G
c.592C>G (n.592C>G)
n.507C>G
c.1467C>G (p.Arg489=)
c.1653C>G (p.Arg551=)
c.1182C>G (p.Arg394=)
c.*16C>G (n.*16C>G)
17g.58273568G=CA2267631322MPOn.800C=
c.592C= (n.592C=)
n.507C=
c.1467C= (p.Arg489=)
c.1653C= (p.Arg551=)
c.1182C= (p.Arg394=)
c.*16C= (n.*16C=)
17g.58273568G>TCA8670630MPOn.800C>A
c.592C>A (n.592C>A)
n.507C>A
c.1467C>A (p.Arg489=)
c.1653C>A (p.Arg551=)
c.1182C>A (p.Arg394=)
c.*16C>A (n.*16C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273569C>ACA292012340MPOn.799G>T
c.591G>T (n.591G>T)
n.506G>T
c.1466G>T (p.Arg489Leu)
c.1652G>T (p.Arg551Leu)
c.1181G>T (p.Arg394Leu)
c.*15G>T (n.*15G>T)
dbSNP gnomAD v2 gnomAD v4
17g.58273569C=CA2267631323MPOn.799G=
c.591G= (n.591G=)
n.506G=
c.1466G= (p.Arg489=)
c.1652G= (p.Arg551=)
c.1181G= (p.Arg394=)
c.*15G= (n.*15G=)
17g.58273569C>GCA400370239MPOn.799G>C
c.591G>C (n.591G>C)
n.506G>C
c.1466G>C (p.Arg489Pro)
c.1652G>C (p.Arg551Pro)
c.1181G>C (p.Arg394Pro)
c.*15G>C (n.*15G>C)
17g.58273569C>TCA8670631MPOn.799G>A
c.591G>A (n.591G>A)
n.506G>A
c.1466G>A (p.Arg489His)
c.1652G>A (p.Arg551His)
c.1181G>A (p.Arg394His)
c.*15G>A (n.*15G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.58273570G>ACA8670632MPOn.798C>T
c.590C>T (n.590C>T)
n.505C>T
c.1465C>T (p.Arg489Cys)
c.1651C>T (p.Arg551Cys)
c.1180C>T (p.Arg394Cys)
c.*14C>T (n.*14C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273570G>CCA292012344MPOn.798C>G
c.590C>G (n.590C>G)
n.505C>G
c.1465C>G (p.Arg489Gly)
c.1651C>G (p.Arg551Gly)
c.1180C>G (p.Arg394Gly)
c.*14C>G (n.*14C>G)
dbSNP gnomAD v4
17g.58273570G=CA2267631324MPOn.798C=
c.590C= (n.590C=)
n.505C=
c.1465C= (p.Arg489=)
c.1651C= (p.Arg551=)
c.1180C= (p.Arg394=)
c.*14C= (n.*14C=)
17g.58273570G>TCA400370241MPOn.798C>A
c.590C>A (n.590C>A)
n.505C>A
c.1465C>A (p.Arg489Ser)
c.1651C>A (p.Arg551Ser)
c.1180C>A (p.Arg394Ser)
c.*14C>A (n.*14C>A)
dbSNP
17g.58273571_58273572delCA2638968896MPOn.797_798del
c.589_590del (n.589_590del)
n.504_505del
c.1464_1465del (p.Arg489HisfsTer?)
c.1650_1651del (p.Arg551HisfsTer?)
c.1179_1180del (p.Arg394HisfsTer?)
c.*13_*14del (n.*13_*14del)
gnomAD v4
17g.58273571T>ACA501022932MPOn.797A>T
c.589A>T (n.589A>T)
n.504A>T
c.1464A>T (p.Pro488=)
c.1650A>T (p.Pro550=)
c.1179A>T (p.Pro393=)
c.*13A>T (n.*13A>T)
17g.58273571T>CCA501022934MPOn.797A>G
c.589A>G (n.589A>G)
n.504A>G
c.1464A>G (p.Pro488=)
c.1650A>G (p.Pro550=)
c.1179A>G (p.Pro393=)
c.*13A>G (n.*13A>G)
gnomAD v4
17g.58273571T>GCA501022935MPOn.797A>C
c.589A>C (n.589A>C)
n.504A>C
c.1464A>C (p.Pro488=)
c.1650A>C (p.Pro550=)
c.1179A>C (p.Pro393=)
c.*13A>C (n.*13A>C)
17g.58273572G>ACA400370244MPOn.796C>T
c.588C>T (n.588C>T)
n.503C>T
c.1463C>T (p.Pro488Leu)
c.1649C>T (p.Pro550Leu)
c.1178C>T (p.Pro393Leu)
c.*12C>T (n.*12C>T)
17g.58273572G>CCA400370246MPOn.796C>G
c.588C>G (n.588C>G)
n.503C>G
c.1463C>G (p.Pro488Arg)
c.1649C>G (p.Pro550Arg)
c.1178C>G (p.Pro393Arg)
c.*12C>G (n.*12C>G)
17g.58273572G>TCA400370247MPOn.796C>A
c.588C>A (n.588C>A)
n.503C>A
c.1463C>A (p.Pro488Gln)
c.1649C>A (p.Pro550Gln)
c.1178C>A (p.Pro393Gln)
c.*12C>A (n.*12C>A)
17g.58273573G>ACA400370249MPOn.795C>T
c.587C>T (n.587C>T)
n.502C>T
c.1462C>T (p.Pro488Ser)
c.1648C>T (p.Pro550Ser)
c.1177C>T (p.Pro393Ser)
c.*11C>T (n.*11C>T)
17g.58273573G>CCA400370250MPOn.795C>G
c.587C>G (n.587C>G)
n.502C>G
c.1462C>G (p.Pro488Ala)
c.1648C>G (p.Pro550Ala)
c.1177C>G (p.Pro393Ala)
c.*11C>G (n.*11C>G)
17g.58273573G>TCA400370252MPOn.795C>A
c.587C>A (n.587C>A)
n.502C>A
c.1462C>A (p.Pro488Thr)
c.1648C>A (p.Pro550Thr)
c.1177C>A (p.Pro393Thr)
c.*11C>A (n.*11C>A)
17g.58273574G>ACA501022944MPOn.794C>T
c.586C>T (n.586C>T)
n.501C>T
c.1461C>T (p.Asp487=)
c.1647C>T (p.Asp549=)
c.1176C>T (p.Asp392=)
c.*10C>T (n.*10C>T)
17g.58273574G>CCA400370254MPOn.794C>G
c.586C>G (n.586C>G)
n.501C>G
c.1461C>G (p.Asp487Glu)
c.1647C>G (p.Asp549Glu)
c.1176C>G (p.Asp392Glu)
c.*10C>G (n.*10C>G)
17g.58273574G>TCA400370255MPOn.794C>A
c.586C>A (n.586C>A)
n.501C>A
c.1461C>A (p.Asp487Glu)
c.1647C>A (p.Asp549Glu)
c.1176C>A (p.Asp392Glu)
c.*10C>A (n.*10C>A)
17g.58273575T>ACA400370257MPOn.793A>T
c.585A>T (n.585A>T)
n.500A>T
c.1460A>T (p.Asp487Val)
c.1646A>T (p.Asp549Val)
c.1175A>T (p.Asp392Val)
c.*9A>T (n.*9A>T)
17g.58273575T>CCA400370259MPOn.793A>G
c.585A>G (n.585A>G)
n.500A>G
c.1460A>G (p.Asp487Gly)
c.1646A>G (p.Asp549Gly)
c.1175A>G (p.Asp392Gly)
c.*9A>G (n.*9A>G)
17g.58273575T>GCA400370260MPOn.793A>C
c.585A>C (n.585A>C)
n.500A>C
c.1460A>C (p.Asp487Ala)
c.1646A>C (p.Asp549Ala)
c.1175A>C (p.Asp392Ala)
c.*9A>C (n.*9A>C)
17g.58273576C>ACA400370261MPOn.792G>T
c.584G>T (n.584G>T)
n.499G>T
c.1459G>T (p.Asp487Tyr)
c.1645G>T (p.Asp549Tyr)
c.1174G>T (p.Asp392Tyr)
c.*8G>T (n.*8G>T)
17g.58273576C>GCA400370263MPOn.792G>C
c.584G>C (n.584G>C)
n.499G>C
c.1459G>C (p.Asp487His)
c.1645G>C (p.Asp549His)
c.1174G>C (p.Asp392His)
c.*8G>C (n.*8G>C)
17g.58273576C>TCA400370265MPOn.792G>A
c.584G>A (n.584G>A)
n.499G>A
c.1459G>A (p.Asp487Asn)
c.1645G>A (p.Asp549Asn)
c.1174G>A (p.Asp392Asn)
c.*8G>A (n.*8G>A)
17g.58273577C>ACA501022950MPOn.791G>T
c.583G>T (n.583G>T)
n.498G>T
c.1458G>T (p.Val486=)
c.1644G>T (p.Val548=)
c.1173G>T (p.Val391=)
c.*7G>T (n.*7G>T)
gnomAD v4
17g.58273577C=CA2267631325MPOn.791G=
c.583G= (n.583G=)
n.498G=
c.1458G= (p.Val486=)
c.1644G= (p.Val548=)
c.1173G= (p.Val391=)
c.*7G= (n.*7G=)
17g.58273577C>GCA501022951MPOn.791G>C
c.583G>C (n.583G>C)
n.498G>C
c.1458G>C (p.Val486=)
c.1644G>C (p.Val548=)
c.1173G>C (p.Val391=)
c.*7G>C (n.*7G>C)
17g.58273577C>TCA8670633MPOn.791G>A
c.583G>A (n.583G>A)
n.498G>A
c.1458G>A (p.Val486=)
c.1644G>A (p.Val548=)
c.1173G>A (p.Val391=)
c.*7G>A (n.*7G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273578A>CCA400370270MPOn.790T>G
c.582T>G (n.582T>G)
n.497T>G
c.1457T>G (p.Val486Gly)
c.1643T>G (p.Val548Gly)
c.1172T>G (p.Val391Gly)
c.*6T>G (n.*6T>G)
17g.58273578A>GCA400370267MPOn.790T>C
c.582T>C (n.582T>C)
n.497T>C
c.1457T>C (p.Val486Ala)
c.1643T>C (p.Val548Ala)
c.1172T>C (p.Val391Ala)
c.*6T>C (n.*6T>C)
17g.58273578A>TCA400370269MPOn.790T>A
c.582T>A (n.582T>A)
n.497T>A
c.1457T>A (p.Val486Glu)
c.1643T>A (p.Val548Glu)
c.1172T>A (p.Val391Glu)
c.*6T>A (n.*6T>A)
17g.58273579C>ACA400370272MPOn.789G>T
c.581G>T (n.581G>T)
n.496G>T
c.1456G>T (p.Val486Leu)
c.1642G>T (p.Val548Leu)
c.1171G>T (p.Val391Leu)
c.*5G>T (n.*5G>T)
17g.58273579C=CA2267631326MPOn.789G=
c.581G= (n.581G=)
n.496G=
c.1456G= (p.Val486=)
c.1642G= (p.Val548=)
c.1171G= (p.Val391=)
c.*5G= (n.*5G=)
17g.58273579C>GCA400370274MPOn.789G>C
c.581G>C (n.581G>C)
n.496G>C
c.1456G>C (p.Val486Leu)
c.1642G>C (p.Val548Leu)
c.1171G>C (p.Val391Leu)
c.*5G>C (n.*5G>C)
17g.58273579C>TCA8670634MPOn.789G>A
c.581G>A (n.581G>A)
n.496G>A
c.1456G>A (p.Val486Met)
c.1642G>A (p.Val548Met)
c.1171G>A (p.Val391Met)
c.*5G>A (n.*5G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273580T>ACA501022974MPOn.788A>T
c.580A>T (n.580A>T)
n.495A>T
c.1455A>T (p.Ser485=)
c.1641A>T (p.Ser547=)
c.1170A>T (p.Ser390=)
c.*4A>T (n.*4A>T)
17g.58273580T>CCA501022977MPOn.788A>G
c.580A>G (n.580A>G)
n.495A>G
c.1455A>G (p.Ser485=)
c.1641A>G (p.Ser547=)
c.1170A>G (p.Ser390=)
c.*4A>G (n.*4A>G)
gnomAD v4
17g.58273580T>GCA501022980MPOn.788A>C
c.580A>C (n.580A>C)
n.495A>C
c.1455A>C (p.Ser485=)
c.1641A>C (p.Ser547=)
c.1170A>C (p.Ser390=)
c.*4A>C (n.*4A>C)
17g.58273581G>ACA400370276MPOn.787C>T
c.579C>T (n.579C>T)
n.494C>T
c.1454C>T (p.Ser485Leu)
c.1640C>T (p.Ser547Leu)
c.1169C>T (p.Ser390Leu)
c.*3C>T (n.*3C>T)
gnomAD v4
17g.58273581G>CCA400370277MPOn.787C>G
c.579C>G (n.579C>G)
n.494C>G
c.1454C>G (p.Ser485Ter)
c.1640C>G (p.Ser547Ter)
c.1169C>G (p.Ser390Ter)
c.*3C>G (n.*3C>G)
17g.58273581G>TCA400370279MPOn.787C>A
c.579C>A (n.579C>A)
n.494C>A
c.1454C>A (p.Ser485Ter)
c.1640C>A (p.Ser547Ter)
c.1169C>A (p.Ser390Ter)
c.*3C>A (n.*3C>A)
17g.58273582A=CA2267631327MPOn.786T=
c.578T= (n.578T=)
n.493T=
c.1453T= (p.Ser485=)
c.1639T= (p.Ser547=)
c.1168T= (p.Ser390=)
c.*2T= (n.*2T=)
17g.58273582A>CCA400370280MPOn.786T>G
c.578T>G (n.578T>G)
n.493T>G
c.1453T>G (p.Ser485Ala)
c.1639T>G (p.Ser547Ala)
c.1168T>G (p.Ser390Ala)
c.*2T>G (n.*2T>G)
17g.58273582A>GCA400370284MPOn.786T>C
c.578T>C (n.578T>C)
n.493T>C
c.1453T>C (p.Ser485Pro)
c.1639T>C (p.Ser547Pro)
c.1168T>C (p.Ser390Pro)
c.*2T>C (n.*2T>C)
17g.58273582A>TCA400370282MPOn.786T>A
c.578T>A (n.578T>A)
n.493T>A
c.1453T>A (p.Ser485Thr)
c.1639T>A (p.Ser547Thr)
c.1168T>A (p.Ser390Thr)
c.*2T>A (n.*2T>A)
dbSNP gnomAD v3 gnomAD v4
17g.58273583G>ACA501022991MPOn.785C>T
c.577C>T (n.577C>T)
n.492C>T
c.1452C>T (p.Asp484=)
c.1638C>T (p.Asp546=)
c.1167C>T (p.Asp389=)
c.*1C>T (n.*1C>T)
gnomAD v4
17g.58273583G>CCA400370286MPOn.785C>G
c.577C>G (n.577C>G)
n.492C>G
c.1452C>G (p.Asp484Glu)
c.1638C>G (p.Asp546Glu)
c.1167C>G (p.Asp389Glu)
c.*1C>G (n.*1C>G)
17g.58273583G>TCA400370287MPOn.785C>A
c.577C>A (n.577C>A)
n.492C>A
c.1452C>A (p.Asp484Glu)
c.1638C>A (p.Asp546Glu)
c.1167C>A (p.Asp389Glu)
c.*1C>A (n.*1C>A)
17g.58273584T>ACA400370289MPOn.784A>T
c.576A>T (p.Ter192Cys)
n.491A>T
c.1451A>T (p.Asp484Val)
c.1637A>T (p.Asp546Val)
c.1166A>T (p.Asp389Val)
c.1476A>T (p.Ter492Cys)
17g.58273584T>CCA400370290MPOn.784A>G
c.576A>G (p.Ter192Trp)
n.491A>G
c.1451A>G (p.Asp484Gly)
c.1637A>G (p.Asp546Gly)
c.1166A>G (p.Asp389Gly)
c.1476A>G (p.Ter492Trp)
17g.58273584T>GCA292012351MPOn.784A>C
c.576A>C (p.Ter192Cys)
n.491A>C
c.1451A>C (p.Asp484Ala)
c.1637A>C (p.Asp546Ala)
c.1166A>C (p.Asp389Ala)
c.1476A>C (p.Ter492Cys)
dbSNP gnomAD v3 gnomAD v4
17g.58273584T=CA2267631328MPOn.784A=
c.576A= (p.Ter192=)
n.491A=
c.1451A= (p.Asp484=)
c.1637A= (p.Asp546=)
c.1166A= (p.Asp389=)
c.1476A= (p.Ter492=)
17g.58273585C>ACA400370293MPOn.783G>T
c.575G>T (p.Ter192Leu)
n.490G>T
c.1450G>T (p.Asp484Tyr)
c.1636G>T (p.Asp546Tyr)
c.1165G>T (p.Asp389Tyr)
c.1475G>T (p.Ter492Leu)
17g.58273585C>GCA400370296MPOn.783G>C
c.575G>C (p.Ter192Ser)
n.490G>C
c.1450G>C (p.Asp484His)
c.1636G>C (p.Asp546His)
c.1165G>C (p.Asp389His)
c.1475G>C (p.Ter492Ser)
17g.58273585C>TCA400370294MPOn.783G>A
c.575G>A (p.Ter192=)
n.490G>A
c.1450G>A (p.Asp484Asn)
c.1636G>A (p.Asp546Asn)
c.1165G>A (p.Asp389Asn)
c.1475G>A (p.Ter492=)
17g.58273586A>CCA400370297MPOn.782T>G
c.574T>G (p.Ter192Gly)
n.489T>G
c.1449T>G (p.Asn483Lys)
c.1635T>G (p.Asn545Lys)
c.1164T>G (p.Asn388Lys)
c.1474T>G (p.Ter492Gly)
17g.58273586A>GCA501023002MPOn.782T>C
c.574T>C (p.Ter192Arg)
n.489T>C
c.1449T>C (p.Asn483=)
c.1635T>C (p.Asn545=)
c.1164T>C (p.Asn388=)
c.1474T>C (p.Ter492Arg)
17g.58273586A>TCA400370299MPOn.782T>A
c.574T>A (p.Ter192Arg)
n.489T>A
c.1449T>A (p.Asn483Lys)
c.1635T>A (p.Asn545Lys)
c.1164T>A (p.Asn388Lys)
c.1474T>A (p.Ter492Arg)
gnomAD v4
17g.58273587T>ACA400370301MPOn.781A>T
c.573A>T (p.Gln191His)
n.488A>T
c.1448A>T (p.Asn483Ile)
c.1634A>T (p.Asn545Ile)
c.1163A>T (p.Asn388Ile)
c.1473A>T (p.Gln491His)
17g.58273587T>CCA8670635MPOn.781A>G
c.573A>G (p.Gln191=)
n.488A>G
c.1448A>G (p.Asn483Ser)
c.1634A>G (p.Asn545Ser)
c.1163A>G (p.Asn388Ser)
c.1473A>G (p.Gln491=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273587T>GCA400370303MPOn.781A>C
c.573A>C (p.Gln191His)
n.488A>C
c.1448A>C (p.Asn483Thr)
c.1634A>C (p.Asn545Thr)
c.1163A>C (p.Asn388Thr)
c.1473A>C (p.Gln491His)
17g.58273587T=CA2267631329MPOn.781A=
c.573A= (p.Gln191=)
n.488A=
c.1448A= (p.Asn483=)
c.1634A= (p.Asn545=)
c.1163A= (p.Asn388=)
c.1473A= (p.Gln491=)
17g.58273588T>ACA400370305MPOn.780A>T
c.572A>T (p.Gln191Leu)
n.487A>T
c.1447A>T (p.Asn483Tyr)
c.1633A>T (p.Asn545Tyr)
c.1162A>T (p.Asn388Tyr)
c.1472A>T (p.Gln491Leu)
17g.58273588T>CCA400370306MPOn.780A>G
c.572A>G (p.Gln191Arg)
n.487A>G
c.1447A>G (p.Asn483Asp)
c.1633A>G (p.Asn545Asp)
c.1162A>G (p.Asn388Asp)
c.1472A>G (p.Gln491Arg)
dbSNP
17g.58273588T>GCA400370308MPOn.780A>C
c.572A>C (p.Gln191Pro)
n.487A>C
c.1447A>C (p.Asn483His)
c.1633A>C (p.Asn545His)
c.1162A>C (p.Asn388His)
c.1472A>C (p.Gln491Pro)
17g.58273588T=CA2267631330MPOn.780A=
c.572A= (p.Gln191=)
n.487A=
c.1447A= (p.Asn483=)
c.1633A= (p.Asn545=)
c.1162A= (p.Asn388=)
c.1472A= (p.Gln491=)
17g.58273589G>ACA501023007MPOn.779C>T
c.571C>T (p.Gln191Ter)
n.486C>T
c.1446C>T (p.Tyr482=)
c.1632C>T (p.Tyr544=)
c.1161C>T (p.Tyr387=)
c.1471C>T (p.Gln491Ter)
17g.58273589G>CCA400370309MPOn.779C>G
c.571C>G (p.Gln191Glu)
n.486C>G
c.1446C>G (p.Tyr482Ter)
c.1632C>G (p.Tyr544Ter)
c.1161C>G (p.Tyr387Ter)
c.1471C>G (p.Gln491Glu)
17g.58273589G>TCA400370311MPOn.779C>A
c.571C>A (p.Gln191Lys)
n.486C>A
c.1446C>A (p.Tyr482Ter)
c.1632C>A (p.Tyr544Ter)
c.1161C>A (p.Tyr387Ter)
c.1471C>A (p.Gln491Lys)
gnomAD v4
17g.58273590T>ACA400370313MPOn.778A>T
c.570A>T (p.Leu190=)
n.485A>T
c.1445A>T (p.Tyr482Phe)
c.1631A>T (p.Tyr544Phe)
c.1160A>T (p.Tyr387Phe)
c.1470A>T (p.Leu490=)
17g.58273590T>CCA400370315MPOn.778A>G
c.570A>G (p.Leu190=)
n.485A>G
c.1445A>G (p.Tyr482Cys)
c.1631A>G (p.Tyr544Cys)
c.1160A>G (p.Tyr387Cys)
c.1470A>G (p.Leu490=)
gnomAD v4
17g.58273590T>GCA400370316MPOn.778A>C
c.570A>C (p.Leu190=)
n.485A>C
c.1445A>C (p.Tyr482Ser)
c.1631A>C (p.Tyr544Ser)
c.1160A>C (p.Tyr387Ser)
c.1470A>C (p.Leu490=)
17g.58273591A=CA2267631331MPOn.777T=
c.569T= (p.Leu190=)
n.484T=
c.1444T= (p.Tyr482=)
c.1630T= (p.Tyr544=)
c.1159T= (p.Tyr387=)
c.1469T= (p.Leu490=)
17g.58273591A>CCA400370318MPOn.777T>G
c.569T>G (p.Leu190Arg)
n.484T>G
c.1444T>G (p.Tyr482Asp)
c.1630T>G (p.Tyr544Asp)
c.1159T>G (p.Tyr387Asp)
c.1469T>G (p.Leu490Arg)
17g.58273591A>GCA8670636MPOn.777T>C
c.569T>C (p.Leu190Pro)
n.484T>C
c.1444T>C (p.Tyr482His)
c.1630T>C (p.Tyr544His)
c.1159T>C (p.Tyr387His)
c.1469T>C (p.Leu490Pro)
dbSNP ExAC gnomAD v2
17g.58273591A>TCA400370319MPOn.777T>A
c.569T>A (p.Leu190Gln)
n.484T>A
c.1444T>A (p.Tyr482Asn)
c.1630T>A (p.Tyr544Asn)
c.1159T>A (p.Tyr387Asn)
c.1469T>A (p.Leu490Gln)
17g.58273592G>ACA501023024MPOn.776C>T
c.568C>T (p.Leu190=)
n.483C>T
c.1443C>T (p.Ser481=)
c.1629C>T (p.Ser543=)
c.1158C>T (p.Ser386=)
c.1468C>T (p.Leu490=)
gnomAD v4
17g.58273592G>CCA501023025MPOn.776C>G
c.568C>G (p.Leu190Val)
n.483C>G
c.1443C>G (p.Ser481=)
c.1629C>G (p.Ser543=)
c.1158C>G (p.Ser386=)
c.1468C>G (p.Leu490Val)
gnomAD v4
17g.58273592G>TCA501023028MPOn.776C>A
c.568C>A (p.Leu190Ile)
n.483C>A
c.1443C>A (p.Ser481=)
c.1629C>A (p.Ser543=)
c.1158C>A (p.Ser386=)
c.1468C>A (p.Leu490Ile)
17g.58273593G>ACA400370321MPOn.775C>T
c.567C>T (p.Phe189=)
n.482C>T
c.1442C>T (p.Ser481Phe)
c.1628C>T (p.Ser543Phe)
c.1157C>T (p.Ser386Phe)
c.1467C>T (p.Phe489=)
17g.58273593G>CCA400370323MPOn.775C>G
c.567C>G (p.Phe189Leu)
n.482C>G
c.1442C>G (p.Ser481Cys)
c.1628C>G (p.Ser543Cys)
c.1157C>G (p.Ser386Cys)
c.1467C>G (p.Phe489Leu)
COSMIC COSMIC
17g.58273593G>TCA400370324MPOn.775C>A
c.567C>A (p.Phe189Leu)
n.482C>A
c.1442C>A (p.Ser481Tyr)
c.1628C>A (p.Ser543Tyr)
c.1157C>A (p.Ser386Tyr)
c.1467C>A (p.Phe489Leu)
17g.58273594A=CA2267631332MPOn.774T=
c.566T= (p.Phe189=)
n.481T=
c.1441T= (p.Ser481=)
c.1627T= (p.Ser543=)
c.1156T= (p.Ser386=)
c.1466T= (p.Phe489=)
17g.58273594A>CCA400370326MPOn.774T>G
c.566T>G (p.Phe189Cys)
n.481T>G
c.1441T>G (p.Ser481Ala)
c.1627T>G (p.Ser543Ala)
c.1156T>G (p.Ser386Ala)
c.1466T>G (p.Phe489Cys)
gnomAD v4
17g.58273594A>GCA400370328MPOn.774T>C
c.566T>C (p.Phe189Ser)
n.481T>C
c.1441T>C (p.Ser481Pro)
c.1627T>C (p.Ser543Pro)
c.1156T>C (p.Ser386Pro)
c.1466T>C (p.Phe489Ser)
17g.58273594A>TCA400370329MPOn.774T>A
c.566T>A (p.Phe189Tyr)
n.481T>A
c.1441T>A (p.Ser481Thr)
c.1627T>A (p.Ser543Thr)
c.1156T>A (p.Ser386Thr)
c.1466T>A (p.Phe489Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273595A>CCA501023040MPOn.773T>G
c.565T>G (p.Phe189Val)
n.480T>G
c.1440T>G (p.Arg480=)
c.1626T>G (p.Arg542=)
c.1155T>G (p.Arg385=)
c.1465T>G (p.Phe489Val)
17g.58273595A>GCA501023042MPOn.773T>C
c.565T>C (p.Phe189Leu)
n.480T>C
c.1440T>C (p.Arg480=)
c.1626T>C (p.Arg542=)
c.1155T>C (p.Arg385=)
c.1465T>C (p.Phe489Leu)
17g.58273595A>TCA501023053MPOn.773T>A
c.565T>A (p.Phe189Ile)
n.480T>A
c.1440T>A (p.Arg480=)
c.1626T>A (p.Arg542=)
c.1155T>A (p.Arg385=)
c.1465T>A (p.Phe489Ile)
17g.58273596C>ACA400370333MPOn.772G>T
c.564G>T (p.Pro188=)
n.479G>T
c.1439G>T (p.Arg480Leu)
c.1625G>T (p.Arg542Leu)
c.1154G>T (p.Arg385Leu)
c.1464G>T (p.Pro488=)
17g.58273596C=CA2267631333MPOn.772G=
c.564G= (p.Pro188=)
n.479G=
c.1439G= (p.Arg480=)
c.1625G= (p.Arg542=)
c.1154G= (p.Arg385=)
c.1464G= (p.Pro488=)
17g.58273596C>GCA400370331MPOn.772G>C
c.564G>C (p.Pro188=)
n.479G>C
c.1439G>C (p.Arg480Pro)
c.1625G>C (p.Arg542Pro)
c.1154G>C (p.Arg385Pro)
c.1464G>C (p.Pro488=)
17g.58273596C>TCA8670637MPOn.772G>A
c.564G>A (p.Pro188=)
n.479G>A
c.1439G>A (p.Arg480His)
c.1625G>A (p.Arg542His)
c.1154G>A (p.Arg385His)
c.1464G>A (p.Pro488=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273597G>ACA8670638MPOn.771C>T
c.563C>T (p.Pro188Leu)
n.478C>T
c.1438C>T (p.Arg480Cys)
c.1624C>T (p.Arg542Cys)
c.1153C>T (p.Arg385Cys)
c.1463C>T (p.Pro488Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273597G>CCA400370335MPOn.771C>G
c.563C>G (p.Pro188Arg)
n.478C>G
c.1438C>G (p.Arg480Gly)
c.1624C>G (p.Arg542Gly)
c.1153C>G (p.Arg385Gly)
c.1463C>G (p.Pro488Arg)
17g.58273597G=CA2267631334MPOn.771C=
c.563C= (p.Pro188=)
n.478C=
c.1438C= (p.Arg480=)
c.1624C= (p.Arg542=)
c.1153C= (p.Arg385=)
c.1463C= (p.Pro488=)
17g.58273597G>TCA400370337MPOn.771C>A
c.563C>A (p.Pro188Gln)
n.478C>A
c.1438C>A (p.Arg480Ser)
c.1624C>A (p.Arg542Ser)
c.1153C>A (p.Arg385Ser)
c.1463C>A (p.Pro488Gln)
gnomAD v4
17g.58273598G>ACA501023064MPOn.770C>T
c.562C>T (p.Pro188Ser)
n.477C>T
c.1437C>T (p.Tyr479=)
c.1623C>T (p.Tyr541=)
c.1152C>T (p.Tyr384=)
c.1462C>T (p.Pro488Ser)
17g.58273598G>CCA400370338MPOn.770C>G
c.562C>G (p.Pro188Ala)
n.477C>G
c.1437C>G (p.Tyr479Ter)
c.1623C>G (p.Tyr541Ter)
c.1152C>G (p.Tyr384Ter)
c.1462C>G (p.Pro488Ala)
17g.58273598G>TCA400370339MPOn.770C>A
c.562C>A (p.Pro188Thr)
n.477C>A
c.1437C>A (p.Tyr479Ter)
c.1623C>A (p.Tyr541Ter)
c.1152C>A (p.Tyr384Ter)
c.1462C>A (p.Pro488Thr)
17g.58273599T>ACA400370341MPOn.769A>T
c.561A>T (p.Val187=)
n.476A>T
c.1436A>T (p.Tyr479Phe)
c.1622A>T (p.Tyr541Phe)
c.1151A>T (p.Tyr384Phe)
c.1461A>T (p.Val487=)
17g.58273599T>CCA400370343MPOn.769A>G
c.561A>G (p.Val187=)
n.476A>G
c.1436A>G (p.Tyr479Cys)
c.1622A>G (p.Tyr541Cys)
c.1151A>G (p.Tyr384Cys)
c.1461A>G (p.Val487=)
17g.58273599T>GCA400370342MPOn.769A>C
c.561A>C (p.Val187=)
n.476A>C
c.1436A>C (p.Tyr479Ser)
c.1622A>C (p.Tyr541Ser)
c.1151A>C (p.Tyr384Ser)
c.1461A>C (p.Val487=)
17g.58273600A>CCA400370344MPOn.768T>G
c.560T>G (p.Val187Gly)
n.475T>G
c.1435T>G (p.Tyr479Asp)
c.1621T>G (p.Tyr541Asp)
c.1150T>G (p.Tyr384Asp)
c.1460T>G (p.Val487Gly)
17g.58273600A>GCA400370346MPOn.768T>C
c.560T>C (p.Val187Ala)
n.475T>C
c.1435T>C (p.Tyr479His)
c.1621T>C (p.Tyr541His)
c.1150T>C (p.Tyr384His)
c.1460T>C (p.Val487Ala)
17g.58273600A>TCA400370348MPOn.768T>A
c.560T>A (p.Val187Glu)
n.475T>A
c.1435T>A (p.Tyr479Asn)
c.1621T>A (p.Tyr541Asn)
c.1150T>A (p.Tyr384Asn)
c.1460T>A (p.Val487Glu)
gnomAD v4
17g.58273601C>ACA501023080MPOn.767G>T
c.559G>T (p.Val187Leu)
n.474G>T
c.1434G>T (p.Thr478=)
c.1620G>T (p.Thr540=)
c.1149G>T (p.Thr383=)
c.1459G>T (p.Val487Leu)
17g.58273601C=CA2267631335MPOn.767G=
c.559G= (p.Val187=)
n.474G=
c.1434G= (p.Thr478=)
c.1620G= (p.Thr540=)
c.1149G= (p.Thr383=)
c.1459G= (p.Val487=)
17g.58273601C>GCA8670640MPOn.767G>C
c.559G>C (p.Val187Leu)
n.474G>C
c.1434G>C (p.Thr478=)
c.1620G>C (p.Thr540=)
c.1149G>C (p.Thr383=)
c.1459G>C (p.Val487Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273601C>TCA8670639MPOn.767G>A
c.559G>A (p.Val187Ile)
n.474G>A
c.1434G>A (p.Thr478=)
c.1620G>A (p.Thr540=)
c.1149G>A (p.Thr383=)
c.1459G>A (p.Val487Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273602G>ACA8670641MPOn.766C>T
c.558C>T (p.His186=)
n.473C>T
c.1433C>T (p.Thr478Met)
c.1619C>T (p.Thr540Met)
c.1148C>T (p.Thr383Met)
c.1458C>T (p.His486=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.58273602G>CCA400370351MPOn.766C>G
c.558C>G (p.His186Gln)
n.473C>G
c.1433C>G (p.Thr478Arg)
c.1619C>G (p.Thr540Arg)
c.1148C>G (p.Thr383Arg)
c.1458C>G (p.His486Gln)
17g.58273602G=CA2267631336MPOn.766C=
c.558C= (p.His186=)
n.473C=
c.1433C= (p.Thr478=)
c.1619C= (p.Thr540=)
c.1148C= (p.Thr383=)
c.1458C= (p.His486=)
17g.58273602G>TCA400370352MPOn.766C>A
c.558C>A (p.His186Gln)
n.473C>A
c.1433C>A (p.Thr478Lys)
c.1619C>A (p.Thr540Lys)
c.1148C>A (p.Thr383Lys)
c.1458C>A (p.His486Gln)
17g.58273603T>ACA400370354MPOn.765A>T
c.557A>T (p.His186Leu)
n.472A>T
c.1432A>T (p.Thr478Ser)
c.1618A>T (p.Thr540Ser)
c.1147A>T (p.Thr383Ser)
c.1457A>T (p.His486Leu)
COSMIC COSMIC
17g.58273603T>CCA400370356MPOn.765A>G
c.557A>G (p.His186Arg)
n.472A>G
c.1432A>G (p.Thr478Ala)
c.1618A>G (p.Thr540Ala)
c.1147A>G (p.Thr383Ala)
c.1457A>G (p.His486Arg)
gnomAD v4
17g.58273603T>GCA400370358MPOn.765A>C
c.557A>C (p.His186Pro)
n.472A>C
c.1432A>C (p.Thr478Pro)
c.1618A>C (p.Thr540Pro)
c.1147A>C (p.Thr383Pro)
c.1457A>C (p.His486Pro)
17g.58273604G>ACA501023086MPOn.764C>T
c.556C>T (p.His186Tyr)
n.471C>T
c.1431C>T (p.Pro477=)
c.1617C>T (p.Pro539=)
c.1146C>T (p.Pro382=)
c.1456C>T (p.His486Tyr)
dbSNP
17g.58273604G>CCA501023087MPOn.764C>G
c.556C>G (p.His186Asp)
n.471C>G
c.1431C>G (p.Pro477=)
c.1617C>G (p.Pro539=)
c.1146C>G (p.Pro382=)
c.1456C>G (p.His486Asp)
17g.58273604G=CA2267631337MPOn.764C=
c.556C= (p.His186=)
n.471C=
c.1431C= (p.Pro477=)
c.1617C= (p.Pro539=)
c.1146C= (p.Pro382=)
c.1456C= (p.His486=)
17g.58273604G>TCA501023089MPOn.764C>A
c.556C>A (p.His186Asn)
n.471C>A
c.1431C>A (p.Pro477=)
c.1617C>A (p.Pro539=)
c.1146C>A (p.Pro382=)
c.1456C>A (p.His486Asn)
17g.58273605G>ACA400370359MPOn.763C>T
c.555C>T (p.Ala185=)
n.470C>T
c.1430C>T (p.Pro477Leu)
c.1616C>T (p.Pro539Leu)
c.1145C>T (p.Pro382Leu)
c.1455C>T (p.Ala485=)
17g.58273605G>CCA400370363MPOn.763C>G
c.555C>G (p.Ala185=)
n.470C>G
c.1430C>G (p.Pro477Arg)
c.1616C>G (p.Pro539Arg)
c.1145C>G (p.Pro382Arg)
c.1455C>G (p.Ala485=)
17g.58273605G>TCA400370361MPOn.763C>A
c.555C>A (p.Ala185=)
n.470C>A
c.1430C>A (p.Pro477His)
c.1616C>A (p.Pro539His)
c.1145C>A (p.Pro382His)
c.1455C>A (p.Ala485=)
17g.58273606G>ACA400370365MPOn.762C>T
c.554C>T (p.Ala185Val)
n.469C>T
c.1429C>T (p.Pro477Ser)
c.1615C>T (p.Pro539Ser)
c.1144C>T (p.Pro382Ser)
c.1454C>T (p.Ala485Val)
dbSNP gnomAD v2 gnomAD v4
17g.58273606G>CCA400370367MPOn.762C>G
c.554C>G (p.Ala185Gly)
n.469C>G
c.1429C>G (p.Pro477Ala)
c.1615C>G (p.Pro539Ala)
c.1144C>G (p.Pro382Ala)
c.1454C>G (p.Ala485Gly)
17g.58273606G=CA2267631338MPOn.762C=
c.554C= (p.Ala185=)
n.469C=
c.1429C= (p.Pro477=)
c.1615C= (p.Pro539=)
c.1144C= (p.Pro382=)
c.1454C= (p.Ala485=)
17g.58273606G>TCA400370366MPOn.762C>A
c.554C>A (p.Ala185Asp)
n.469C>A
c.1429C>A (p.Pro477Thr)
c.1615C>A (p.Pro539Thr)
c.1144C>A (p.Pro382Thr)
c.1454C>A (p.Ala485Asp)
17g.58273607C>ACA501023093MPOn.761G>T
c.553G>T (p.Ala185Ser)
n.468G>T
c.1428G>T (p.Leu476=)
c.1614G>T (p.Leu538=)
c.1143G>T (p.Leu381=)
c.1453G>T (p.Ala485Ser)
17g.58273607C>GCA501023096MPOn.761G>C
c.553G>C (p.Ala185Pro)
n.468G>C
c.1428G>C (p.Leu476=)
c.1614G>C (p.Leu538=)
c.1143G>C (p.Leu381=)
c.1453G>C (p.Ala485Pro)
17g.58273607C>TCA501023100MPOn.761G>A
c.553G>A (p.Ala185Thr)
n.468G>A
c.1428G>A (p.Leu476=)
c.1614G>A (p.Leu538=)
c.1143G>A (p.Leu381=)
c.1453G>A (p.Ala485Thr)
gnomAD v4
17g.58273608A>CCA400370369MPOn.760T>G
c.552T>G (p.Pro184=)
n.467T>G
c.1427T>G (p.Leu476Arg)
c.1613T>G (p.Leu538Arg)
c.1142T>G (p.Leu381Arg)
c.1452T>G (p.Pro484=)
17g.58273608A>GCA400370371MPOn.760T>C
c.552T>C (p.Pro184=)
n.467T>C
c.1427T>C (p.Leu476Pro)
c.1613T>C (p.Leu538Pro)
c.1142T>C (p.Leu381Pro)
c.1452T>C (p.Pro484=)
gnomAD v4
17g.58273608A>TCA400370372MPOn.760T>A
c.552T>A (p.Pro184=)
n.467T>A
c.1427T>A (p.Leu476Gln)
c.1613T>A (p.Leu538Gln)
c.1142T>A (p.Leu381Gln)
c.1452T>A (p.Pro484=)
17g.58273609G>ACA501023110MPOn.759C>T
c.551C>T (p.Pro184Leu)
n.466C>T
c.1426C>T (p.Leu476=)
c.1612C>T (p.Leu538=)
c.1141C>T (p.Leu381=)
c.1451C>T (p.Pro484Leu)
gnomAD v4
17g.58273609G>CCA400370373MPOn.759C>G
c.551C>G (p.Pro184Arg)
n.466C>G
c.1426C>G (p.Leu476Val)
c.1612C>G (p.Leu538Val)
c.1141C>G (p.Leu381Val)
c.1451C>G (p.Pro484Arg)
17g.58273609G>TCA400370375MPOn.759C>A
c.551C>A (p.Pro184His)
n.466C>A
c.1426C>A (p.Leu476Met)
c.1612C>A (p.Leu538Met)
c.1141C>A (p.Leu381Met)
c.1451C>A (p.Pro484His)
17g.58273610G>ACA501023117MPOn.758C>T
c.550C>T (p.Pro184Ser)
n.465C>T
c.1425C>T (p.Tyr475=)
c.1611C>T (p.Tyr537=)
c.1140C>T (p.Tyr380=)
c.1450C>T (p.Pro484Ser)
dbSNP gnomAD v2 gnomAD v4
17g.58273610G>CCA400370377MPOn.758C>G
c.550C>G (p.Pro184Ala)
n.465C>G
c.1425C>G (p.Tyr475Ter)
c.1611C>G (p.Tyr537Ter)
c.1140C>G (p.Tyr380Ter)
c.1450C>G (p.Pro484Ala)
17g.58273610G=CA2267631339MPOn.758C=
c.550C= (p.Pro184=)
n.465C=
c.1425C= (p.Tyr475=)
c.1611C= (p.Tyr537=)
c.1140C= (p.Tyr380=)
c.1450C= (p.Pro484=)
17g.58273610G>TCA400370378MPOn.758C>A
c.550C>A (p.Pro184Thr)
n.465C>A
c.1425C>A (p.Tyr475Ter)
c.1611C>A (p.Tyr537Ter)
c.1140C>A (p.Tyr380Ter)
c.1450C>A (p.Pro484Thr)
17g.58273611T>ACA400370380MPOn.757A>T
c.549A>T (p.Val183=)
n.464A>T
c.1424A>T (p.Tyr475Phe)
c.1610A>T (p.Tyr537Phe)
c.1139A>T (p.Tyr380Phe)
c.1449A>T (p.Val483=)
17g.58273611T>CCA400370381MPOn.757A>G
c.549A>G (p.Val183=)
n.464A>G
c.1424A>G (p.Tyr475Cys)
c.1610A>G (p.Tyr537Cys)
c.1139A>G (p.Tyr380Cys)
c.1449A>G (p.Val483=)
17g.58273611T>GCA400370382MPOn.757A>C
c.549A>C (p.Val183=)
n.464A>C
c.1424A>C (p.Tyr475Ser)
c.1610A>C (p.Tyr537Ser)
c.1139A>C (p.Tyr380Ser)
c.1449A>C (p.Val483=)
17g.58273612A=CA2267631340MPOn.756T=
c.548T= (p.Val183=)
n.463T=
c.1423T= (p.Tyr475=)
c.1609T= (p.Tyr537=)
c.1138T= (p.Tyr380=)
c.1448T= (p.Val483=)
17g.58273612A>CCA400370384MPOn.756T>G
c.548T>G (p.Val183Gly)
n.463T>G
c.1423T>G (p.Tyr475Asp)
c.1609T>G (p.Tyr537Asp)
c.1138T>G (p.Tyr380Asp)
c.1448T>G (p.Val483Gly)
17g.58273612A>GCA8670642MPOn.756T>C
c.548T>C (p.Val183Ala)
n.463T>C
c.1423T>C (p.Tyr475His)
c.1609T>C (p.Tyr537His)
c.1138T>C (p.Tyr380His)
c.1448T>C (p.Val483Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273612A>TCA400370387MPOn.756T>A
c.548T>A (p.Val183Glu)
n.463T>A
c.1423T>A (p.Tyr475Asn)
c.1609T>A (p.Tyr537Asn)
c.1138T>A (p.Tyr380Asn)
c.1448T>A (p.Val483Glu)
17g.58273613C>ACA400370388MPOn.755G>T
c.547G>T (p.Val183Leu)
n.462G>T
c.1422G>T (p.Lys474Asn)
c.1608G>T (p.Lys536Asn)
c.1137G>T (p.Lys379Asn)
c.1447G>T (p.Val483Leu)
17g.58273613C=CA2267631341MPOn.755G=
c.547G= (p.Val183=)
n.462G=
c.1422G= (p.Lys474=)
c.1608G= (p.Lys536=)
c.1137G= (p.Lys379=)
c.1447G= (p.Val483=)
17g.58273613C>GCA400370389MPOn.755G>C
c.547G>C (p.Val183Leu)
n.462G>C
c.1422G>C (p.Lys474Asn)
c.1608G>C (p.Lys536Asn)
c.1137G>C (p.Lys379Asn)
c.1447G>C (p.Val483Leu)
17g.58273613C>TCA501023135MPOn.755G>A
c.547G>A (p.Val183Ile)
n.462G>A
c.1422G>A (p.Lys474=)
c.1608G>A (p.Lys536=)
c.1137G>A (p.Lys379=)
c.1447G>A (p.Val483Ile)
dbSNP gnomAD v4
17g.58273614T>ACA400370392MPOn.754A>T
c.546A>T (p.Glu182Asp)
n.461A>T
c.1421A>T (p.Lys474Met)
c.1607A>T (p.Lys536Met)
c.1136A>T (p.Lys379Met)
c.1446A>T (p.Glu482Asp)
dbSNP
17g.58273614T>CCA400370394MPOn.754A>G
c.546A>G (p.Glu182=)
n.461A>G
c.1421A>G (p.Lys474Arg)
c.1607A>G (p.Lys536Arg)
c.1136A>G (p.Lys379Arg)
c.1446A>G (p.Glu482=)
gnomAD v4
17g.58273614T>GCA400370395MPOn.754A>C
c.546A>C (p.Glu182Asp)
n.461A>C
c.1421A>C (p.Lys474Thr)
c.1607A>C (p.Lys536Thr)
c.1136A>C (p.Lys379Thr)
c.1446A>C (p.Glu482Asp)
17g.58273614T=CA2267631342MPOn.754A=
c.546A= (p.Glu182=)
n.461A=
c.1421A= (p.Lys474=)
c.1607A= (p.Lys536=)
c.1136A= (p.Lys379=)
c.1446A= (p.Glu482=)
17g.58273615T>ACA400370397MPOn.753A>T
c.545A>T (p.Glu182Val)
n.460A>T
c.1420A>T (p.Lys474Ter)
c.1606A>T (p.Lys536Ter)
c.1135A>T (p.Lys379Ter)
c.1445A>T (p.Glu482Val)
17g.58273615T>CCA400370398MPOn.753A>G
c.545A>G (p.Glu182Gly)
n.460A>G
c.1420A>G (p.Lys474Glu)
c.1606A>G (p.Lys536Glu)
c.1135A>G (p.Lys379Glu)
c.1445A>G (p.Glu482Gly)
17g.58273615T>GCA400370400MPOn.753A>C
c.545A>C (p.Glu182Ala)
n.460A>C
c.1420A>C (p.Lys474Gln)
c.1606A>C (p.Lys536Gln)
c.1135A>C (p.Lys379Gln)
c.1445A>C (p.Glu482Ala)
17g.58273616C>ACA400370402MPOn.752G>T
c.544G>T (p.Glu182Ter)
n.459G>T
c.1419G>T (p.Arg473Ser)
c.1605G>T (p.Arg535Ser)
c.1134G>T (p.Arg378Ser)
c.1444G>T (p.Glu482Ter)
17g.58273616C>GCA400370403MPOn.752G>C
c.544G>C (p.Glu182Gln)
n.459G>C
c.1419G>C (p.Arg473Ser)
c.1605G>C (p.Arg535Ser)
c.1134G>C (p.Arg378Ser)
c.1444G>C (p.Glu482Gln)
17g.58273616C>TCA501023147MPOn.752G>A
c.544G>A (p.Glu182Lys)
n.459G>A
c.1419G>A (p.Arg473=)
c.1605G>A (p.Arg535=)
c.1134G>A (p.Arg378=)
c.1444G>A (p.Glu482Lys)
17g.58273617C>ACA400370405MPOn.751G>T
c.543G>T (p.Glu181Asp)
n.458G>T
c.1418G>T (p.Arg473Met)
c.1604G>T (p.Arg535Met)
c.1133G>T (p.Arg378Met)
c.1443G>T (p.Glu481Asp)
17g.58273617C=CA2267631343MPOn.751G=
c.543G= (p.Glu181=)
n.458G=
c.1418G= (p.Arg473=)
c.1604G= (p.Arg535=)
c.1133G= (p.Arg378=)
c.1443G= (p.Glu481=)
17g.58273617C>GCA400370407MPOn.751G>C
c.543G>C (p.Glu181Asp)
n.458G>C
c.1418G>C (p.Arg473Thr)
c.1604G>C (p.Arg535Thr)
c.1133G>C (p.Arg378Thr)
c.1443G>C (p.Glu481Asp)
17g.58273617C>TCA400370408MPOn.751G>A
c.543G>A (p.Glu181=)
n.458G>A
c.1418G>A (p.Arg473Lys)
c.1604G>A (p.Arg535Lys)
c.1133G>A (p.Arg378Lys)
c.1443G>A (p.Glu481=)
dbSNP gnomAD v4
17g.58273618T>ACA400370411MPOn.750A>T
c.542A>T (p.Glu181Val)
n.457A>T
c.1417A>T (p.Arg473Trp)
c.1603A>T (p.Arg535Trp)
c.1132A>T (p.Arg378Trp)
c.1442A>T (p.Glu481Val)
17g.58273618T>CCA400370409MPOn.750A>G
c.542A>G (p.Glu181Gly)
n.457A>G
c.1417A>G (p.Arg473Gly)
c.1603A>G (p.Arg535Gly)
c.1132A>G (p.Arg378Gly)
c.1442A>G (p.Glu481Gly)
17g.58273618T>GCA501023162MPOn.750A>C
c.542A>C (p.Glu181Ala)
n.457A>C
c.1417A>C (p.Arg473=)
c.1603A>C (p.Arg535=)
c.1132A>C (p.Arg378=)
c.1442A>C (p.Glu481Ala)
17g.58273619C>ACA400370413MPOn.749G>T
c.541G>T (p.Glu181Ter)
n.456G>T
c.1416G>T (p.Met472Ile)
c.1602G>T (p.Met534Ile)
c.1131G>T (p.Met377Ile)
c.1441G>T (p.Glu481Ter)
17g.58273619C>GCA400370415MPOn.749G>C
c.541G>C (p.Glu181Gln)
n.456G>C
c.1416G>C (p.Met472Ile)
c.1602G>C (p.Met534Ile)
c.1131G>C (p.Met377Ile)
c.1441G>C (p.Glu481Gln)
17g.58273619C>TCA400370416MPOn.749G>A
c.541G>A (p.Glu181Lys)
n.456G>A
c.1416G>A (p.Met472Ile)
c.1602G>A (p.Met534Ile)
c.1131G>A (p.Met377Ile)
c.1441G>A (p.Glu481Lys)
17g.58273620A=CA2267631344MPOn.748T=
c.540T= (p.His180=)
n.455T=
c.1415T= (p.Met472=)
c.1601T= (p.Met534=)
c.1130T= (p.Met377=)
c.1440T= (p.His480=)
17g.58273620A>CCA400370417MPOn.748T>G
c.540T>G (p.His180Gln)
n.455T>G
c.1415T>G (p.Met472Arg)
c.1601T>G (p.Met534Arg)
c.1130T>G (p.Met377Arg)
c.1440T>G (p.His480Gln)
dbSNP gnomAD v4
17g.58273620A>GCA8670643MPOn.748T>C
c.540T>C (p.His180=)
n.455T>C
c.1415T>C (p.Met472Thr)
c.1601T>C (p.Met534Thr)
c.1130T>C (p.Met377Thr)
c.1440T>C (p.His480=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273620A>TCA400370419MPOn.748T>A
c.540T>A (p.His180Gln)
n.455T>A
c.1415T>A (p.Met472Lys)
c.1601T>A (p.Met534Lys)
c.1130T>A (p.Met377Lys)
c.1440T>A (p.His480Gln)
gnomAD v4
17g.58273621T>ACA400370420MPOn.747A>T
c.539A>T (p.His180Leu)
n.454A>T
c.1414A>T (p.Met472Leu)
c.1600A>T (p.Met534Leu)
c.1129A>T (p.Met377Leu)
c.1439A>T (p.His480Leu)
17g.58273621T>CCA8670644MPOn.747A>G
c.539A>G (p.His180Arg)
n.454A>G
c.1414A>G (p.Met472Val)
c.1600A>G (p.Met534Val)
c.1129A>G (p.Met377Val)
c.1439A>G (p.His480Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273621T>GCA400370422MPOn.747A>C
c.539A>C (p.His180Pro)
n.454A>C
c.1414A>C (p.Met472Leu)
c.1600A>C (p.Met534Leu)
c.1129A>C (p.Met377Leu)
c.1439A>C (p.His480Pro)
17g.58273621T=CA2267631345MPOn.747A=
c.539A= (p.His180=)
n.454A=
c.1414A= (p.Met472=)
c.1600A= (p.Met534=)
c.1129A= (p.Met377=)
c.1439A= (p.His480=)
17g.58273622G>ACA501023192MPOn.746C>T
c.538C>T (p.His180Tyr)
n.453C>T
c.1413C>T (p.Ala471=)
c.1599C>T (p.Ala533=)
c.1128C>T (p.Ala376=)
c.1438C>T (p.His480Tyr)
17g.58273622G>CCA501023190MPOn.746C>G
c.538C>G (p.His180Asp)
n.453C>G
c.1413C>G (p.Ala471=)
c.1599C>G (p.Ala533=)
c.1128C>G (p.Ala376=)
c.1438C>G (p.His480Asp)
17g.58273622G>TCA501023186MPOn.746C>A
c.538C>A (p.His180Asn)
n.453C>A
c.1413C>A (p.Ala471=)
c.1599C>A (p.Ala533=)
c.1128C>A (p.Ala376=)
c.1438C>A (p.His480Asn)
17g.58273623G>ACA400370424MPOn.745C>T
c.537C>T (p.Gly179=)
n.452C>T
c.1412C>T (p.Ala471Val)
c.1598C>T (p.Ala533Val)
c.1127C>T (p.Ala376Val)
c.1437C>T (p.Gly479=)
17g.58273623G>CCA400370426MPOn.745C>G
c.537C>G (p.Gly179=)
n.452C>G
c.1412C>G (p.Ala471Gly)
c.1598C>G (p.Ala533Gly)
c.1127C>G (p.Ala376Gly)
c.1437C>G (p.Gly479=)
17g.58273623G>TCA400370427MPOn.745C>A
c.537C>A (p.Gly179=)
n.452C>A
c.1412C>A (p.Ala471Asp)
c.1598C>A (p.Ala533Asp)
c.1127C>A (p.Ala376Asp)
c.1437C>A (p.Gly479=)
17g.58273624C>ACA400370431MPOn.744G>T
c.536G>T (p.Gly179Val)
n.451G>T
c.1411G>T (p.Ala471Ser)
c.1597G>T (p.Ala533Ser)
c.1126G>T (p.Ala376Ser)
c.1436G>T (p.Gly479Val)
17g.58273624C>GCA400370433MPOn.744G>C
c.536G>C (p.Gly179Ala)
n.451G>C
c.1411G>C (p.Ala471Pro)
c.1597G>C (p.Ala533Pro)
c.1126G>C (p.Ala376Pro)
c.1436G>C (p.Gly479Ala)
17g.58273624C>TCA400370429MPOn.744G>A
c.536G>A (p.Gly179Asp)
n.451G>A
c.1411G>A (p.Ala471Thr)
c.1597G>A (p.Ala533Thr)
c.1126G>A (p.Ala376Thr)
c.1436G>A (p.Gly479Asp)
COSMIC COSMIC
17g.58273625C>ACA8670646MPOn.743G>T
c.535G>T (p.Gly179Cys)
n.450G>T
c.1410G>T (p.Thr470=)
c.1596G>T (p.Thr532=)
c.1125G>T (p.Thr375=)
c.1435G>T (p.Gly479Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273625C=CA2267631346MPOn.743G=
c.535G= (p.Gly179=)
n.450G=
c.1410G= (p.Thr470=)
c.1596G= (p.Thr532=)
c.1125G= (p.Thr375=)
c.1435G= (p.Gly479=)
17g.58273625C>GCA501023212MPOn.743G>C
c.535G>C (p.Gly179Arg)
n.450G>C
c.1410G>C (p.Thr470=)
c.1596G>C (p.Thr532=)
c.1125G>C (p.Thr375=)
c.1435G>C (p.Gly479Arg)
17g.58273625C>TCA8670645MPOn.743G>A
c.535G>A (p.Gly179Ser)
n.450G>A
c.1410G>A (p.Thr470=)
c.1596G>A (p.Thr532=)
c.1125G>A (p.Thr375=)
c.1435G>A (p.Gly479Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.58273626G>ACA400370436MPOn.742C>T
c.534C>T (p.Asn178=)
n.449C>T
c.1409C>T (p.Thr470Met)
c.1595C>T (p.Thr532Met)
c.1124C>T (p.Thr375Met)
c.1434C>T (p.Asn478=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273626G>CCA400370437MPOn.742C>G
c.534C>G (p.Asn178Lys)
n.449C>G
c.1409C>G (p.Thr470Arg)
c.1595C>G (p.Thr532Arg)
c.1124C>G (p.Thr375Arg)
c.1434C>G (p.Asn478Lys)
gnomAD v4
17g.58273626G=CA2267631347MPOn.742C=
c.534C= (p.Asn178=)
n.449C=
c.1409C= (p.Thr470=)
c.1595C= (p.Thr532=)
c.1124C= (p.Thr375=)
c.1434C= (p.Asn478=)
17g.58273626G>TCA400370439MPOn.742C>A
c.534C>A (p.Asn178Lys)
n.449C>A
c.1409C>A (p.Thr470Lys)
c.1595C>A (p.Thr532Lys)
c.1124C>A (p.Thr375Lys)
c.1434C>A (p.Asn478Lys)
dbSNP gnomAD v2
17g.58273627T>ACA400370444MPOn.741A>T
c.533A>T (p.Asn178Ile)
n.448A>T
c.1408A>T (p.Thr470Ser)
c.1594A>T (p.Thr532Ser)
c.1123A>T (p.Thr375Ser)
c.1433A>T (p.Asn478Ile)
17g.58273627T>CCA400370441MPOn.741A>G
c.533A>G (p.Asn178Ser)
n.448A>G
c.1408A>G (p.Thr470Ala)
c.1594A>G (p.Thr532Ala)
c.1123A>G (p.Thr375Ala)
c.1433A>G (p.Asn478Ser)
17g.58273627T>GCA400370442MPOn.741A>C
c.533A>C (p.Asn178Thr)
n.448A>C
c.1408A>C (p.Thr470Pro)
c.1594A>C (p.Thr532Pro)
c.1123A>C (p.Thr375Pro)
c.1433A>C (p.Asn478Thr)
17g.58273628T>ACA501023507MPOn.740A>T
c.532A>T (p.Asn178Tyr)
n.447A>T
c.1407A>T (p.Pro469=)
c.1593A>T (p.Pro531=)
c.1122A>T (p.Pro374=)
c.1432A>T (p.Asn478Tyr)
17g.58273628T>CCA501023512MPOn.740A>G
c.532A>G (p.Asn178Asp)
n.447A>G
c.1407A>G (p.Pro469=)
c.1593A>G (p.Pro531=)
c.1122A>G (p.Pro374=)
c.1432A>G (p.Asn478Asp)
gnomAD v4
17g.58273628T>GCA501023509MPOn.740A>C
c.532A>C (p.Asn178His)
n.447A>C
c.1407A>C (p.Pro469=)
c.1593A>C (p.Pro531=)
c.1122A>C (p.Pro374=)
c.1432A>C (p.Asn478His)
17g.58273629G>ACA400370445MPOn.739C>T
c.531C>T (p.Ala177=)
n.446C>T
c.1406C>T (p.Pro469Leu)
c.1592C>T (p.Pro531Leu)
c.1121C>T (p.Pro374Leu)
c.1431C>T (p.Ala477=)
17g.58273629G>CCA400370447MPOn.739C>G
c.531C>G (p.Ala177=)
n.446C>G
c.1406C>G (p.Pro469Arg)
c.1592C>G (p.Pro531Arg)
c.1121C>G (p.Pro374Arg)
c.1431C>G (p.Ala477=)
17g.58273629G>TCA400370449MPOn.739C>A
c.531C>A (p.Ala177=)
n.446C>A
c.1406C>A (p.Pro469Gln)
c.1592C>A (p.Pro531Gln)
c.1121C>A (p.Pro374Gln)
c.1431C>A (p.Ala477=)
17g.58273630G>ACA400370450MPOn.738C>T
c.530C>T (p.Ala177Val)
n.445C>T
c.1405C>T (p.Pro469Ser)
c.1591C>T (p.Pro531Ser)
c.1120C>T (p.Pro374Ser)
c.1430C>T (p.Ala477Val)
17g.58273630G>CCA400370452MPOn.738C>G
c.530C>G (p.Ala177Gly)
n.445C>G
c.1405C>G (p.Pro469Ala)
c.1591C>G (p.Pro531Ala)
c.1120C>G (p.Pro374Ala)
c.1430C>G (p.Ala477Gly)
17g.58273630G>TCA400370453MPOn.738C>A
c.530C>A (p.Ala177Asp)
n.445C>A
c.1405C>A (p.Pro469Thr)
c.1591C>A (p.Pro531Thr)
c.1120C>A (p.Pro374Thr)
c.1430C>A (p.Ala477Asp)
17g.58273631C>ACA501023525MPOn.737G>T
c.529G>T (p.Ala177Ser)
n.444G>T
c.1404G>T (p.Gly468=)
c.1590G>T (p.Gly530=)
c.1119G>T (p.Gly373=)
c.1429G>T (p.Ala477Ser)
gnomAD v4
17g.58273631C=CA2267631348MPOn.737G=
c.529G= (p.Ala177=)
n.444G=
c.1404G= (p.Gly468=)
c.1590G= (p.Gly530=)
c.1119G= (p.Gly373=)
c.1429G= (p.Ala477=)
17g.58273631C>GCA501023526MPOn.737G>C
c.529G>C (p.Ala177Pro)
n.444G>C
c.1404G>C (p.Gly468=)
c.1590G>C (p.Gly530=)
c.1119G>C (p.Gly373=)
c.1429G>C (p.Ala477Pro)
17g.58273631C>TCA501023528MPOn.737G>A
c.529G>A (p.Ala177Thr)
n.444G>A
c.1404G>A (p.Gly468=)
c.1590G>A (p.Gly530=)
c.1119G>A (p.Gly373=)
c.1429G>A (p.Ala477Thr)
dbSNP gnomAD v2 gnomAD v4
17g.58273634delCA2513739294MPOn.737del
c.529del (p.Ala177ProfsTer?)
n.444del
c.1404del (p.Pro469GlnfsTer4)
c.1590del (p.Pro531GlnfsTer4)
c.1119del (p.Pro374GlnfsTer4)
c.1429del (p.Ala477ProfsTer?)
dbSNP
17g.58273632C>ACA400370457MPOn.736G>T
c.528G>T (p.Gly176=)
n.443G>T
c.1403G>T (p.Gly468Val)
c.1589G>T (p.Gly530Val)
c.1118G>T (p.Gly373Val)
c.1428G>T (p.Gly476=)
17g.58273632C>GCA400370458MPOn.736G>C
c.528G>C (p.Gly176=)
n.443G>C
c.1403G>C (p.Gly468Ala)
c.1589G>C (p.Gly530Ala)
c.1118G>C (p.Gly373Ala)
c.1428G>C (p.Gly476=)
17g.58273632C>TCA400370455MPOn.736G>A
c.528G>A (p.Gly176=)
n.443G>A
c.1403G>A (p.Gly468Glu)
c.1589G>A (p.Gly530Glu)
c.1118G>A (p.Gly373Glu)
c.1428G>A (p.Gly476=)
17g.58273633C>ACA400370462MPOn.735G>T
c.527G>T (p.Gly176Val)
n.442G>T
c.1402G>T (p.Gly468Trp)
c.1588G>T (p.Gly530Trp)
c.1117G>T (p.Gly373Trp)
c.1427G>T (p.Gly476Val)
17g.58273633C>GCA400370460MPOn.735G>C
c.527G>C (p.Gly176Ala)
n.442G>C
c.1402G>C (p.Gly468Arg)
c.1588G>C (p.Gly530Arg)
c.1117G>C (p.Gly373Arg)
c.1427G>C (p.Gly476Ala)
17g.58273633C>TCA400370464MPOn.735G>A
c.527G>A (p.Gly176Glu)
n.442G>A
c.1402G>A (p.Gly468Arg)
c.1588G>A (p.Gly530Arg)
c.1117G>A (p.Gly373Arg)
c.1427G>A (p.Gly476Glu)
gnomAD v4
17g.58273634C>ACA8670647MPOn.734G>T
c.526G>T (p.Gly176Trp)
n.441G>T
c.1401G>T (p.Leu467=)
c.1587G>T (p.Leu529=)
c.1116G>T (p.Leu372=)
c.1426G>T (p.Gly476Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273634C=CA2267631349MPOn.734G=
c.526G= (p.Gly176=)
n.441G=
c.1401G= (p.Leu467=)
c.1587G= (p.Leu529=)
c.1116G= (p.Leu372=)
c.1426G= (p.Gly476=)
17g.58273634C>GCA501023539MPOn.734G>C
c.526G>C (p.Gly176Arg)
n.441G>C
c.1401G>C (p.Leu467=)
c.1587G>C (p.Leu529=)
c.1116G>C (p.Leu372=)
c.1426G>C (p.Gly476Arg)
17g.58273634C>TCA501023543MPOn.734G>A
c.526G>A (p.Gly176Arg)
n.441G>A
c.1401G>A (p.Leu467=)
c.1587G>A (p.Leu529=)
c.1116G>A (p.Leu372=)
c.1426G>A (p.Gly476Arg)
17g.58273635A>CCA400370468MPOn.733T>G
c.525T>G (p.Ala175=)
n.440T>G
c.1400T>G (p.Leu467Arg)
c.1586T>G (p.Leu529Arg)
c.1115T>G (p.Leu372Arg)
c.1425T>G (p.Ala475=)
17g.58273635A>GCA400370466MPOn.733T>C
c.525T>C (p.Ala175=)
n.440T>C
c.1400T>C (p.Leu467Pro)
c.1586T>C (p.Leu529Pro)
c.1115T>C (p.Leu372Pro)
c.1425T>C (p.Ala475=)
17g.58273635A>TCA400370470MPOn.733T>A
c.525T>A (p.Ala175=)
n.440T>A
c.1400T>A (p.Leu467Gln)
c.1586T>A (p.Leu529Gln)
c.1115T>A (p.Leu372Gln)
c.1425T>A (p.Ala475=)
17g.58273636G>ACA501023547MPOn.732C>T
c.524C>T (p.Ala175Val)
n.439C>T
c.1399C>T (p.Leu467=)
c.1585C>T (p.Leu529=)
c.1114C>T (p.Leu372=)
c.1424C>T (p.Ala475Val)
17g.58273636G>CCA400370471MPOn.732C>G
c.524C>G (p.Ala175Gly)
n.439C>G
c.1399C>G (p.Leu467Val)
c.1585C>G (p.Leu529Val)
c.1114C>G (p.Leu372Val)
c.1424C>G (p.Ala475Gly)
17g.58273636G>TCA400370472MPOn.732C>A
c.524C>A (p.Ala175Asp)
n.439C>A
c.1399C>A (p.Leu467Met)
c.1585C>A (p.Leu529Met)
c.1114C>A (p.Leu372Met)
c.1424C>A (p.Ala475Asp)
17g.58273637C>ACA501023551MPOn.731G>T
c.523G>T (p.Ala175Ser)
n.438G>T
c.1398G>T (p.Val466=)
c.1584G>T (p.Val528=)
c.1113G>T (p.Val371=)
c.1423G>T (p.Ala475Ser)
gnomAD v4
17g.58273637C>GCA501023554MPOn.731G>C
c.523G>C (p.Ala175Pro)
n.438G>C
c.1398G>C (p.Val466=)
c.1584G>C (p.Val528=)
c.1113G>C (p.Val371=)
c.1423G>C (p.Ala475Pro)
17g.58273637C>TCA501023557MPOn.731G>A
c.523G>A (p.Ala175Thr)
n.438G>A
c.1398G>A (p.Val466=)
c.1584G>A (p.Val528=)
c.1113G>A (p.Val371=)
c.1423G>A (p.Ala475Thr)
17g.58273638A>CCA400370474MPOn.730T>G
c.522T>G (p.Gly174=)
n.437T>G
c.1397T>G (p.Val466Gly)
c.1583T>G (p.Val528Gly)
c.1112T>G (p.Val371Gly)
c.1422T>G (p.Gly474=)
17g.58273638A>GCA400370476MPOn.730T>C
c.522T>C (p.Gly174=)
n.437T>C
c.1397T>C (p.Val466Ala)
c.1583T>C (p.Val528Ala)
c.1112T>C (p.Val371Ala)
c.1422T>C (p.Gly474=)
17g.58273638A>TCA400370478MPOn.730T>A
c.522T>A (p.Gly174=)
n.437T>A
c.1397T>A (p.Val466Glu)
c.1583T>A (p.Val528Glu)
c.1112T>A (p.Val371Glu)
c.1422T>A (p.Gly474=)
17g.58273639C>ACA400370479MPOn.729G>T
c.521G>T (p.Gly174Val)
n.436G>T
c.1396G>T (p.Val466Leu)
c.1582G>T (p.Val528Leu)
c.1111G>T (p.Val371Leu)
c.1421G>T (p.Gly474Val)
17g.58273639C>GCA400370480MPOn.729G>C
c.521G>C (p.Gly174Ala)
n.436G>C
c.1396G>C (p.Val466Leu)
c.1582G>C (p.Val528Leu)
c.1111G>C (p.Val371Leu)
c.1421G>C (p.Gly474Ala)
17g.58273639C>TCA400370481MPOn.729G>A
c.521G>A (p.Gly174Asp)
n.436G>A
c.1396G>A (p.Val466Met)
c.1582G>A (p.Val528Met)
c.1111G>A (p.Val371Met)
c.1421G>A (p.Gly474Asp)
gnomAD v4
17g.58273640C>ACA501023560MPOn.728G>T
c.520G>T (p.Gly174Cys)
n.435G>T
c.1395G>T (p.Leu465=)
c.1581G>T (p.Leu527=)
c.1110G>T (p.Leu370=)
c.1420G>T (p.Gly474Cys)
dbSNP gnomAD v4
17g.58273640C=CA2267631351MPOn.728G=
c.520G= (p.Gly174=)
n.435G=
c.1395G= (p.Leu465=)
c.1581G= (p.Leu527=)
c.1110G= (p.Leu370=)
c.1420G= (p.Gly474=)
17g.58273640C>GCA501023561MPOn.728G>C
c.520G>C (p.Gly174Arg)
n.435G>C
c.1395G>C (p.Leu465=)
c.1581G>C (p.Leu527=)
c.1110G>C (p.Leu370=)
c.1420G>C (p.Gly474Arg)
17g.58273640C>TCA501023564MPOn.728G>A
c.520G>A (p.Gly174Ser)
n.435G>A
c.1395G>A (p.Leu465=)
c.1581G>A (p.Leu527=)
c.1110G>A (p.Leu370=)
c.1420G>A (p.Gly474Ser)
gnomAD v4
17g.58273640_58273641delinsCACA2267631350MPOn.727_728delinsTG
c.519_520delinsTG (p.Pro173=)
n.434_435delinsTG
c.1394_1395delinsTG (p.Leu465=)
c.1580_1581delinsTG (p.Leu527=)
c.1109_1110delinsTG (p.Leu370=)
c.1419_1420delinsTG (p.Pro473=)
17g.58273641delCA626724238MPOn.727del
c.519del (p.Gly174ValfsTer?)
n.434del
c.1394del (p.Leu465ArgfsTer8)
c.1580del (p.Leu527ArgfsTer8)
c.1109del (p.Leu370ArgfsTer8)
c.1419del (p.Gly474ValfsTer?)
dbSNP gnomAD v2 gnomAD v4
17g.58273641A=CA2267631352MPOn.727T=
c.519T= (p.Pro173=)
n.434T=
c.1394T= (p.Leu465=)
c.1580T= (p.Leu527=)
c.1109T= (p.Leu370=)
c.1419T= (p.Pro473=)
17g.58273641A>CCA400370482MPOn.727T>G
c.519T>G (p.Pro173=)
n.434T>G
c.1394T>G (p.Leu465Arg)
c.1580T>G (p.Leu527Arg)
c.1109T>G (p.Leu370Arg)
c.1419T>G (p.Pro473=)
dbSNP gnomAD v2
17g.58273641A>GCA400370483MPOn.727T>C
c.519T>C (p.Pro173=)
n.434T>C
c.1394T>C (p.Leu465Pro)
c.1580T>C (p.Leu527Pro)
c.1109T>C (p.Leu370Pro)
c.1419T>C (p.Pro473=)
17g.58273641A>TCA400370485MPOn.727T>A
c.519T>A (p.Pro173=)
n.434T>A
c.1394T>A (p.Leu465Gln)
c.1580T>A (p.Leu527Gln)
c.1109T>A (p.Leu370Gln)
c.1419T>A (p.Pro473=)
17g.58273642G>ACA501023572MPOn.726C>T
c.518C>T (p.Pro173Leu)
n.433C>T
c.1393C>T (p.Leu465=)
c.1579C>T (p.Leu527=)
c.1108C>T (p.Leu370=)
c.1418C>T (p.Pro473Leu)
17g.58273642G>CCA400370486MPOn.726C>G
c.518C>G (p.Pro173Arg)
n.433C>G
c.1393C>G (p.Leu465Val)
c.1579C>G (p.Leu527Val)
c.1108C>G (p.Leu370Val)
c.1418C>G (p.Pro473Arg)
17g.58273642G>TCA400370488MPOn.726C>A
c.518C>A (p.Pro173His)
n.433C>A
c.1393C>A (p.Leu465Met)
c.1579C>A (p.Leu527Met)
c.1108C>A (p.Leu370Met)
c.1418C>A (p.Pro473His)
17g.58273643G>ACA501023579MPOn.725C>T
c.517C>T (p.Pro173Ser)
n.432C>T
c.1392C>T (p.Pro464=)
c.1578C>T (p.Pro526=)
c.1107C>T (p.Pro369=)
c.1417C>T (p.Pro473Ser)
dbSNP gnomAD v4
17g.58273643G>CCA501023581MPOn.725C>G
c.517C>G (p.Pro173Ala)
n.432C>G
c.1392C>G (p.Pro464=)
c.1578C>G (p.Pro526=)
c.1107C>G (p.Pro369=)
c.1417C>G (p.Pro473Ala)
17g.58273643G>TCA501023585MPOn.725C>A
c.517C>A (p.Pro173Thr)
n.432C>A
c.1392C>A (p.Pro464=)
c.1578C>A (p.Pro526=)
c.1107C>A (p.Pro369=)
c.1417C>A (p.Pro473Thr)
17g.58273644G>ACA400370491MPOn.724C>T
c.516C>T (p.Ala172=)
n.431C>T
c.1391C>T (p.Pro464Leu)
c.1577C>T (p.Pro526Leu)
c.1106C>T (p.Pro369Leu)
c.1416C>T (p.Ala472=)
gnomAD v4
17g.58273644G>CCA400370489MPOn.724C>G
c.516C>G (p.Ala172=)
n.431C>G
c.1391C>G (p.Pro464Arg)
c.1577C>G (p.Pro526Arg)
c.1106C>G (p.Pro369Arg)
c.1416C>G (p.Ala472=)
17g.58273644G>TCA400370490MPOn.724C>A
c.516C>A (p.Ala172=)
n.431C>A
c.1391C>A (p.Pro464His)
c.1577C>A (p.Pro526His)
c.1106C>A (p.Pro369His)
c.1416C>A (p.Ala472=)
17g.58273645G>ACA8670648MPOn.723C>T
c.515C>T (p.Ala172Val)
n.430C>T
c.1390C>T (p.Pro464Ser)
c.1576C>T (p.Pro526Ser)
c.1105C>T (p.Pro369Ser)
c.1415C>T (p.Ala472Val)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.58273645G>CCA400370493MPOn.723C>G
c.515C>G (p.Ala172Gly)
n.430C>G
c.1390C>G (p.Pro464Ala)
c.1576C>G (p.Pro526Ala)
c.1105C>G (p.Pro369Ala)
c.1415C>G (p.Ala472Gly)
17g.58273645G=CA2267631353MPOn.723C=
c.515C= (p.Ala172=)
n.430C=
c.1390C= (p.Pro464=)
c.1576C= (p.Pro526=)
c.1105C= (p.Pro369=)
c.1415C= (p.Ala472=)
17g.58273645G>TCA400370494MPOn.723C>A
c.515C>A (p.Ala172Asp)
n.430C>A
c.1390C>A (p.Pro464Thr)
c.1576C>A (p.Pro526Thr)
c.1105C>A (p.Pro369Thr)
c.1415C>A (p.Ala472Asp)
17g.58273646C>ACA501023603MPOn.722G>T
c.514G>T (p.Ala172Ser)
n.429G>T
c.1389G>T (p.Leu463=)
c.1575G>T (p.Leu525=)
c.1104G>T (p.Leu368=)
c.1414G>T (p.Ala472Ser)
17g.58273646C>GCA501023604MPOn.722G>C
c.514G>C (p.Ala172Pro)
n.429G>C
c.1389G>C (p.Leu463=)
c.1575G>C (p.Leu525=)
c.1104G>C (p.Leu368=)
c.1414G>C (p.Ala472Pro)
17g.58273646C>TCA501023607MPOn.722G>A
c.514G>A (p.Ala172Thr)
n.429G>A
c.1389G>A (p.Leu463=)
c.1575G>A (p.Leu525=)
c.1104G>A (p.Leu368=)
c.1414G>A (p.Ala472Thr)
17g.58273647A>CCA400370495MPOn.721T>G
c.513T>G (p.Pro171=)
n.428T>G
c.1388T>G (p.Leu463Arg)
c.1574T>G (p.Leu525Arg)
c.1103T>G (p.Leu368Arg)
c.1413T>G (p.Pro471=)
17g.58273647A>GCA400370496MPOn.721T>C
c.513T>C (p.Pro171=)
n.428T>C
c.1388T>C (p.Leu463Pro)
c.1574T>C (p.Leu525Pro)
c.1103T>C (p.Leu368Pro)
c.1413T>C (p.Pro471=)
17g.58273647A>TCA400370498MPOn.721T>A
c.513T>A (p.Pro171=)
n.428T>A
c.1388T>A (p.Leu463Gln)
c.1574T>A (p.Leu525Gln)
c.1103T>A (p.Leu368Gln)
c.1413T>A (p.Pro471=)
17g.58273648G>ACA501023616MPOn.720C>T
c.512C>T (p.Pro171Leu)
n.427C>T
c.1387C>T (p.Leu463=)
c.1573C>T (p.Leu525=)
c.1102C>T (p.Leu368=)
c.1412C>T (p.Pro471Leu)
COSMIC COSMIC
17g.58273648G>CCA292012411MPOn.720C>G
c.512C>G (p.Pro171Arg)
n.427C>G
c.1387C>G (p.Leu463Val)
c.1573C>G (p.Leu525Val)
c.1102C>G (p.Leu368Val)
c.1412C>G (p.Pro471Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.58273648G=CA2267631354MPOn.720C=
c.512C= (p.Pro171=)
n.427C=
c.1387C= (p.Leu463=)
c.1573C= (p.Leu525=)
c.1102C= (p.Leu368=)
c.1412C= (p.Pro471=)
17g.58273648G>TCA400370501MPOn.720C>A
c.512C>A (p.Pro171His)
n.427C>A
c.1387C>A (p.Leu463Met)
c.1573C>A (p.Leu525Met)
c.1102C>A (p.Leu368Met)
c.1412C>A (p.Pro471His)
gnomAD v4
17g.58273649G>ACA501023623MPOn.719C>T
c.511C>T (p.Pro171Ser)
n.426C>T
c.1386C>T (p.Tyr462=)
c.1572C>T (p.Tyr524=)
c.1101C>T (p.Tyr367=)
c.1411C>T (p.Pro471Ser)
gnomAD v4
17g.58273649G>CCA400370502MPOn.719C>G
c.511C>G (p.Pro171Ala)
n.426C>G
c.1386C>G (p.Tyr462Ter)
c.1572C>G (p.Tyr524Ter)
c.1101C>G (p.Tyr367Ter)
c.1411C>G (p.Pro471Ala)
17g.58273649G>TCA400370503MPOn.719C>A
c.511C>A (p.Pro171Thr)
n.426C>A
c.1386C>A (p.Tyr462Ter)
c.1572C>A (p.Tyr524Ter)
c.1101C>A (p.Tyr367Ter)
c.1411C>A (p.Pro471Thr)
17g.58273650T>ACA400370507MPOn.718A>T
c.510A>T (p.Leu170=)
n.425A>T
c.1385A>T (p.Tyr462Phe)
c.1571A>T (p.Tyr524Phe)
c.1100A>T (p.Tyr367Phe)
c.1410A>T (p.Leu470=)
17g.58273650T>CCA400370509MPOn.718A>G
c.510A>G (p.Leu170=)
n.425A>G
c.1385A>G (p.Tyr462Cys)
c.1571A>G (p.Tyr524Cys)
c.1100A>G (p.Tyr367Cys)
c.1410A>G (p.Leu470=)
17g.58273650T>GCA400370506MPOn.718A>C
c.510A>C (p.Leu170=)
n.425A>C
c.1385A>C (p.Tyr462Ser)
c.1571A>C (p.Tyr524Ser)
c.1100A>C (p.Tyr367Ser)
c.1410A>C (p.Leu470=)
dbSNP
17g.58273650T=CA2267631355MPOn.718A=
c.510A= (p.Leu170=)
n.425A=
c.1385A= (p.Tyr462=)
c.1571A= (p.Tyr524=)
c.1100A= (p.Tyr367=)
c.1410A= (p.Leu470=)
17g.58273651A=CA2267631356MPOn.717T=
c.509T= (p.Leu170=)
n.424T=
c.1384T= (p.Tyr462=)
c.1570T= (p.Tyr524=)
c.1099T= (p.Tyr367=)
c.1409T= (p.Leu470=)
17g.58273651A>CCA400370510MPOn.717T>G
c.509T>G (p.Leu170Arg)
n.424T>G
c.1384T>G (p.Tyr462Asp)
c.1570T>G (p.Tyr524Asp)
c.1099T>G (p.Tyr367Asp)
c.1409T>G (p.Leu470Arg)
17g.58273651A>GCA400370511MPOn.717T>C
c.509T>C (p.Leu170Pro)
n.424T>C
c.1384T>C (p.Tyr462His)
c.1570T>C (p.Tyr524His)
c.1099T>C (p.Tyr367His)
c.1409T>C (p.Leu470Pro)
dbSNP gnomAD v3 gnomAD v4
17g.58273651A>TCA400370512MPOn.717T>A
c.509T>A (p.Leu170Gln)
n.424T>A
c.1384T>A (p.Tyr462Asn)
c.1570T>A (p.Tyr524Asn)
c.1099T>A (p.Tyr367Asn)
c.1409T>A (p.Leu470Gln)
17g.58273652G>ACA501023637MPOn.716C>T
c.508C>T (p.Leu170=)
n.423C>T
c.1383C>T (p.Asp461=)
c.1569C>T (p.Asp523=)
c.1098C>T (p.Asp366=)
c.1408C>T (p.Leu470=)
17g.58273652G>CCA400370514MPOn.716C>G
c.508C>G (p.Leu170Val)
n.423C>G
c.1383C>G (p.Asp461Glu)
c.1569C>G (p.Asp523Glu)
c.1098C>G (p.Asp366Glu)
c.1408C>G (p.Leu470Val)
17g.58273652G>TCA400370516MPOn.716C>A
c.508C>A (p.Leu170Ile)
n.423C>A
c.1383C>A (p.Asp461Glu)
c.1569C>A (p.Asp523Glu)
c.1098C>A (p.Asp366Glu)
c.1408C>A (p.Leu470Ile)
17g.58273653T>ACA400370518MPOn.715A>T
c.507A>T (p.Gly169=)
n.422A>T
c.1382A>T (p.Asp461Val)
c.1568A>T (p.Asp523Val)
c.1097A>T (p.Asp366Val)
c.1407A>T (p.Gly469=)
17g.58273653T>CCA400370519MPOn.715A>G
c.507A>G (p.Gly169=)
n.422A>G
c.1382A>G (p.Asp461Gly)
c.1568A>G (p.Asp523Gly)
c.1097A>G (p.Asp366Gly)
c.1407A>G (p.Gly469=)
COSMIC COSMIC
17g.58273653T>GCA400370521MPOn.715A>C
c.507A>C (p.Gly169=)
n.422A>C
c.1382A>C (p.Asp461Ala)
c.1568A>C (p.Asp523Ala)
c.1097A>C (p.Asp366Ala)
c.1407A>C (p.Gly469=)
17g.58273654C>ACA400370523MPOn.714G>T
c.506G>T (p.Gly169Val)
n.421G>T
c.1381G>T (p.Asp461Tyr)
c.1567G>T (p.Asp523Tyr)
c.1096G>T (p.Asp366Tyr)
c.1406G>T (p.Gly469Val)
17g.58273654C=CA2267631357MPOn.714G=
c.506G= (p.Gly169=)
n.421G=
c.1381G= (p.Asp461=)
c.1567G= (p.Asp523=)
c.1096G= (p.Asp366=)
c.1406G= (p.Gly469=)
17g.58273654C>GCA400370524MPOn.714G>C
c.506G>C (p.Gly169Ala)
n.421G>C
c.1381G>C (p.Asp461His)
c.1567G>C (p.Asp523His)
c.1096G>C (p.Asp366His)
c.1406G>C (p.Gly469Ala)
17g.58273654C>TCA400370525MPOn.714G>A
c.506G>A (p.Gly169Glu)
n.421G>A
c.1381G>A (p.Asp461Asn)
c.1567G>A (p.Asp523Asn)
c.1096G>A (p.Asp366Asn)
c.1406G>A (p.Gly469Glu)
dbSNP gnomAD v4
17g.58273655C>ACA501023655MPOn.713G>T
c.505G>T (p.Gly169Ter)
n.420G>T
c.1380G>T (p.Arg460=)
c.1566G>T (p.Arg522=)
c.1095G>T (p.Arg365=)
c.1405G>T (p.Gly469Ter)
17g.58273655C>GCA501023659MPOn.713G>C
c.505G>C (p.Gly169Arg)
n.420G>C
c.1380G>C (p.Arg460=)
c.1566G>C (p.Arg522=)
c.1095G>C (p.Arg365=)
c.1405G>C (p.Gly469Arg)
17g.58273655C>TCA501023653MPOn.713G>A
c.505G>A (p.Gly169Arg)
n.420G>A
c.1380G>A (p.Arg460=)
c.1566G>A (p.Arg522=)
c.1095G>A (p.Arg365=)
c.1405G>A (p.Gly469Arg)

Number of alleles fetched