Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.120632027_120635038delCA2582342871HGDc.1007-1709_1188+1121del
c.286-1709_467+1121del
c.782-1709_963+1121del
c.584-1709_765+1121del
 ClinVar
3g.120633185C>ACA354072725HGDc.1150G>T (p.Val384Phe)
n.490G>T
c.429G>T (n.429G>T)
c.925G>T (p.Val309Phe)
c.727G>T (p.Val243Phe)
3g.120633185C>GCA354072726HGDc.1150G>C (p.Val384Leu)
n.490G>C
c.429G>C (n.429G>C)
c.925G>C (p.Val309Leu)
c.727G>C (p.Val243Leu)
3g.120633185C>TCA354072727HGDc.1150G>A (p.Val384Ile)
n.490G>A
c.429G>A (n.429G>A)
c.925G>A (p.Val309Ile)
c.727G>A (p.Val243Ile)
 gnomAD v4
3g.120633186C>ACA354072728HGDc.1149G>T (p.Lys383Asn)
n.489G>T
c.428G>T (n.428G>T)
c.924G>T (p.Lys308Asn)
c.726G>T (p.Lys242Asn)
3g.120633186C>GCA354072729HGDc.1149G>C (p.Lys383Asn)
n.489G>C
c.428G>C (n.428G>C)
c.924G>C (p.Lys308Asn)
c.726G>C (p.Lys242Asn)
3g.120633186C>TCA435225782HGDc.1149G>A (p.Lys383=)
n.489G>A
c.428G>A (n.428G>A)
c.924G>A (p.Lys308=)
c.726G>A (p.Lys242=)
3g.120633187T>ACA354072730HGDc.1148A>T (p.Lys383Met)
n.488A>T
c.427A>T (n.427A>T)
c.923A>T (p.Lys308Met)
c.725A>T (p.Lys242Met)
3g.120633187T>CCA354072731HGDc.1148A>G (p.Lys383Arg)
n.488A>G
c.427A>G (n.427A>G)
c.923A>G (p.Lys308Arg)
c.725A>G (p.Lys242Arg)
3g.120633187T>GCA354072732HGDc.1148A>C (p.Lys383Thr)
n.488A>C
c.427A>C (n.427A>C)
c.923A>C (p.Lys308Thr)
c.725A>C (p.Lys242Thr)
3g.120633188T>ACA354072735HGDc.1147A>T (p.Lys383Ter)
n.487A>T
c.426A>T (n.426A>T)
c.922A>T (p.Lys308Ter)
c.724A>T (p.Lys242Ter)
3g.120633188T>CCA354072734HGDc.1147A>G (p.Lys383Glu)
n.487A>G
c.426A>G (n.426A>G)
c.922A>G (p.Lys308Glu)
c.724A>G (p.Lys242Glu)
3g.120633188T>GCA354072733HGDc.1147A>C (p.Lys383Gln)
n.487A>C
c.426A>C (n.426A>C)
c.922A>C (p.Lys308Gln)
c.724A>C (p.Lys242Gln)
3g.120633189G>ACA435225795HGDc.1146C>T (p.Ser382=)
n.486C>T
c.425C>T (n.425C>T)
c.921C>T (p.Ser307=)
c.723C>T (p.Ser241=)
3g.120633189G>CCA354072736HGDc.1146C>G (p.Ser382Arg)
n.486C>G
c.425C>G (n.425C>G)
c.921C>G (p.Ser307Arg)
c.723C>G (p.Ser241Arg)
3g.120633189G>TCA354072737HGDc.1146C>A (p.Ser382Arg)
n.486C>A
c.425C>A (n.425C>A)
c.921C>A (p.Ser307Arg)
c.723C>A (p.Ser241Arg)
3g.120633190C>ACA354072738HGDc.1145G>T (p.Ser382Ile)
n.485G>T
c.424G>T (n.424G>T)
c.920G>T (p.Ser307Ile)
c.722G>T (p.Ser241Ile)
 gnomAD v4
3g.120633190C>GCA354072739HGDc.1145G>C (p.Ser382Thr)
n.485G>C
c.424G>C (n.424G>C)
c.920G>C (p.Ser307Thr)
c.722G>C (p.Ser241Thr)
3g.120633190C>TCA354072740HGDc.1145G>A (p.Ser382Asn)
n.485G>A
c.424G>A (n.424G>A)
c.920G>A (p.Ser307Asn)
c.722G>A (p.Ser241Asn)
 gnomAD v4
3g.120633191T>ACA354072741HGDc.1144A>T (p.Ser382Cys)
n.484A>T
c.423A>T (n.423A>T)
c.919A>T (p.Ser307Cys)
c.721A>T (p.Ser241Cys)
3g.120633191T>CCA354072742HGDc.1144A>G (p.Ser382Gly)
n.484A>G
c.423A>G (n.423A>G)
c.919A>G (p.Ser307Gly)
c.721A>G (p.Ser241Gly)
3g.120633191T>GCA354072743HGDc.1144A>C (p.Ser382Arg)
n.484A>C
c.423A>C (n.423A>C)
c.919A>C (p.Ser307Arg)
c.721A>C (p.Ser241Arg)
 gnomAD v4
3g.120633192G>ACA435225806HGDc.1143C>T (p.Ala381=)
n.483C>T
c.422C>T (n.422C>T)
c.918C>T (p.Ala306=)
c.720C>T (p.Ala240=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120633192G>CCA435225807HGDc.1143C>G (p.Ala381=)
n.483C>G
c.422C>G (n.422C>G)
c.918C>G (p.Ala306=)
c.720C>G (p.Ala240=)
3g.120633192G=CA1397090714HGDc.1143C= (p.Ala381=)
n.483C=
c.422C= (n.422C=)
c.918C= (p.Ala306=)
c.720C= (p.Ala240=)
3g.120633192G>TCA435225809HGDc.1143C>A (p.Ala381=)
n.483C>A
c.422C>A (n.422C>A)
c.918C>A (p.Ala306=)
c.720C>A (p.Ala240=)
3g.120633193G>ACA354072746HGDc.1142C>T (p.Ala381Val)
n.482C>T
c.421C>T (n.421C>T)
c.917C>T (p.Ala306Val)
c.719C>T (p.Ala240Val)
3g.120633193G>CCA354072744HGDc.1142C>G (p.Ala381Gly)
n.482C>G
c.421C>G (n.421C>G)
c.917C>G (p.Ala306Gly)
c.719C>G (p.Ala240Gly)
3g.120633193G>TCA354072745HGDc.1142C>A (p.Ala381Asp)
n.482C>A
c.421C>A (n.421C>A)
c.917C>A (p.Ala306Asp)
c.719C>A (p.Ala240Asp)
 gnomAD v4
3g.120633194C>ACA354072747HGDc.1141G>T (p.Ala381Ser)
n.481G>T
c.420G>T (n.420G>T)
c.916G>T (p.Ala306Ser)
c.718G>T (p.Ala240Ser)
 dbSNP gnomAD v4
3g.120633194C=CA1397090715HGDc.1141G= (p.Ala381=)
n.481G=
c.420G= (n.420G=)
c.916G= (p.Ala306=)
c.718G= (p.Ala240=)
3g.120633194C>GCA354072748HGDc.1141G>C (p.Ala381Pro)
n.481G>C
c.420G>C (n.420G>C)
c.916G>C (p.Ala306Pro)
c.718G>C (p.Ala240Pro)
3g.120633194C>TCA354072749HGDc.1141G>A (p.Ala381Thr)
n.481G>A
c.420G>A (n.420G>A)
c.916G>A (p.Ala306Thr)
c.718G>A (p.Ala240Thr)
 gnomAD v4
3g.120633195C>ACA354072750HGDc.1140G>T (p.Lys380Asn)
n.480G>T
c.419G>T (n.419G>T)
c.915G>T (p.Lys305Asn)
c.717G>T (p.Lys239Asn)
3g.120633195C>GCA354072751HGDc.1140G>C (p.Lys380Asn)
n.480G>C
c.419G>C (n.419G>C)
c.915G>C (p.Lys305Asn)
c.717G>C (p.Lys239Asn)
3g.120633195C>TCA435225816HGDc.1140G>A (p.Lys380=)
n.480G>A
c.419G>A (n.419G>A)
c.915G>A (p.Lys305=)
c.717G>A (p.Lys239=)
3g.120633196T>ACA354072752HGDc.1139A>T (p.Lys380Met)
n.479A>T
c.418A>T (n.418A>T)
c.914A>T (p.Lys305Met)
c.716A>T (p.Lys239Met)
3g.120633196T>CCA354072754HGDc.1139A>G (p.Lys380Arg)
n.479A>G
c.418A>G (n.418A>G)
c.914A>G (p.Lys305Arg)
c.716A>G (p.Lys239Arg)
3g.120633196T>GCA354072753HGDc.1139A>C (p.Lys380Thr)
n.479A>C
c.418A>C (n.418A>C)
c.914A>C (p.Lys305Thr)
c.716A>C (p.Lys239Thr)
3g.120633197T>ACA354072755HGDc.1138A>T (p.Lys380Ter)
n.478A>T
c.417A>T (n.417A>T)
c.913A>T (p.Lys305Ter)
c.715A>T (p.Lys239Ter)
3g.120633197T>CCA354072756HGDc.1138A>G (p.Lys380Glu)
n.478A>G
c.417A>G (n.417A>G)
c.913A>G (p.Lys305Glu)
c.715A>G (p.Lys239Glu)
3g.120633197T>GCA354072757HGDc.1138A>C (p.Lys380Gln)
n.478A>C
c.417A>C (n.417A>C)
c.913A>C (p.Lys305Gln)
c.715A>C (p.Lys239Gln)
3g.120633198C>ACA354072758HGDc.1137G>T (p.Glu379Asp)
n.477G>T
c.416G>T (n.416G>T)
c.912G>T (p.Glu304Asp)
c.714G>T (p.Glu238Asp)
3g.120633198C>GCA354072759HGDc.1137G>C (p.Glu379Asp)
n.477G>C
c.416G>C (n.416G>C)
c.912G>C (p.Glu304Asp)
c.714G>C (p.Glu238Asp)
3g.120633198C>TCA435225824HGDc.1137G>A (p.Glu379=)
n.477G>A
c.416G>A (n.416G>A)
c.912G>A (p.Glu304=)
c.714G>A (p.Glu238=)
3g.120633199T>ACA354072760HGDc.1136A>T (p.Glu379Val)
n.476A>T
c.415A>T (n.415A>T)
c.911A>T (p.Glu304Val)
c.713A>T (p.Glu238Val)
3g.120633199T>CCA354072761HGDc.1136A>G (p.Glu379Gly)
n.476A>G
c.415A>G (n.415A>G)
c.911A>G (p.Glu304Gly)
c.713A>G (p.Glu238Gly)
 gnomAD v4
3g.120633199T>GCA354072762HGDc.1136A>C (p.Glu379Ala)
n.476A>C
c.415A>C (n.415A>C)
c.911A>C (p.Glu304Ala)
c.713A>C (p.Glu238Ala)
3g.120633200C>ACA354072763HGDc.1135G>T (p.Glu379Ter)
n.475G>T
c.414G>T (n.414G>T)
c.910G>T (p.Glu304Ter)
c.712G>T (p.Glu238Ter)
3g.120633200C=CA1397090716HGDc.1135G= (p.Glu379=)
n.475G=
c.414G= (n.414G=)
c.910G= (p.Glu304=)
c.712G= (p.Glu238=)
3g.120633200C>GCA2559965HGDc.1135G>C (p.Glu379Gln)
n.475G>C
c.414G>C (n.414G>C)
c.910G>C (p.Glu304Gln)
c.712G>C (p.Glu238Gln)
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.120633200C>TCA354072764HGDc.1135G>A (p.Glu379Lys)
n.475G>A
c.414G>A (n.414G>A)
c.910G>A (p.Glu304Lys)
c.712G>A (p.Glu238Lys)
3g.120633201A>CCA354072765HGDc.1134T>G (p.Phe378Leu)
n.474T>G
c.413T>G (n.413T>G)
c.909T>G (p.Phe303Leu)
c.711T>G (p.Phe237Leu)
3g.120633201A>GCA435225836HGDc.1134T>C (p.Phe378=)
n.474T>C
c.413T>C (n.413T>C)
c.909T>C (p.Phe303=)
c.711T>C (p.Phe237=)
3g.120633201A>TCA354072766HGDc.1134T>A (p.Phe378Leu)
n.474T>A
c.413T>A (n.413T>A)
c.909T>A (p.Phe303Leu)
c.711T>A (p.Phe237Leu)
3g.120633202A>CCA354072767HGDc.1133T>G (p.Phe378Cys)
n.473T>G
c.412T>G (n.412T>G)
c.908T>G (p.Phe303Cys)
c.710T>G (p.Phe237Cys)
3g.120633202A>GCA354072768HGDc.1133T>C (p.Phe378Ser)
n.473T>C
c.412T>C (n.412T>C)
c.908T>C (p.Phe303Ser)
c.710T>C (p.Phe237Ser)
3g.120633202A>TCA354072769HGDc.1133T>A (p.Phe378Tyr)
n.473T>A
c.412T>A (n.412T>A)
c.908T>A (p.Phe303Tyr)
c.710T>A (p.Phe237Tyr)
3g.120633203A>CCA354072770HGDc.1132T>G (p.Phe378Val)
n.472T>G
c.411T>G (n.411T>G)
c.907T>G (p.Phe303Val)
c.709T>G (p.Phe237Val)
3g.120633203A>GCA354072771HGDc.1132T>C (p.Phe378Leu)
n.472T>C
c.411T>C (n.411T>C)
c.907T>C (p.Phe303Leu)
c.709T>C (p.Phe237Leu)
3g.120633203A>TCA354072772HGDc.1132T>A (p.Phe378Ile)
n.472T>A
c.411T>A (n.411T>A)
c.907T>A (p.Phe303Ile)
c.709T>A (p.Phe237Ile)
3g.120633204G>ACA435225844HGDc.1131C>T (p.Cys377=)
n.471C>T
c.410C>T (n.410C>T)
c.906C>T (p.Cys302=)
c.708C>T (p.Cys236=)
3g.120633204G>CCA354072773HGDc.1131C>G (p.Cys377Trp)
n.471C>G
c.410C>G (n.410C>G)
c.906C>G (p.Cys302Trp)
c.708C>G (p.Cys236Trp)
 gnomAD v4
3g.120633204G>TCA354072774HGDc.1131C>A (p.Cys377Ter)
n.471C>A
c.410C>A (n.410C>A)
c.906C>A (p.Cys302Ter)
c.708C>A (p.Cys236Ter)
 ClinVar
3g.120633205C>ACA354072775HGDc.1130G>T (p.Cys377Phe)
n.470G>T
c.409G>T (n.409G>T)
c.905G>T (p.Cys302Phe)
c.707G>T (p.Cys236Phe)
3g.120633205C>GCA354072776HGDc.1130G>C (p.Cys377Ser)
n.470G>C
c.409G>C (n.409G>C)
c.905G>C (p.Cys302Ser)
c.707G>C (p.Cys236Ser)
3g.120633205C>TCA354072777HGDc.1130G>A (p.Cys377Tyr)
n.470G>A
c.409G>A (n.409G>A)
c.905G>A (p.Cys302Tyr)
c.707G>A (p.Cys236Tyr)
3g.120633206A=CA1397090717HGDc.1129T= (p.Cys377=)
n.469T=
c.408T= (n.408T=)
c.904T= (p.Cys302=)
c.706T= (p.Cys236=)
3g.120633206A>CCA354072778HGDc.1129T>G (p.Cys377Gly)
n.469T>G
c.408T>G (n.408T>G)
c.904T>G (p.Cys302Gly)
c.706T>G (p.Cys236Gly)
3g.120633206A>GCA354072779HGDc.1129T>C (p.Cys377Arg)
n.469T>C
c.408T>C (n.408T>C)
c.904T>C (p.Cys302Arg)
c.706T>C (p.Cys236Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.120633206A>TCA354072780HGDc.1129T>A (p.Cys377Ser)
n.469T>A
c.408T>A (n.408T>A)
c.904T>A (p.Cys302Ser)
c.706T>A (p.Cys236Ser)
3g.120633207G>ACA435225852HGDc.1128C>T (p.Asp376=)
n.468C>T
c.407C>T (n.407C>T)
c.903C>T (p.Asp301=)
c.705C>T (p.Asp235=)
3g.120633207G>CCA2559966HGDc.1128C>G (p.Asp376Glu)
n.468C>G
c.407C>G (n.407C>G)
c.903C>G (p.Asp301Glu)
c.705C>G (p.Asp235Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633207G=CA1397090718HGDc.1128C= (p.Asp376=)
n.468C=
c.407C= (n.407C=)
c.903C= (p.Asp301=)
c.705C= (p.Asp235=)
3g.120633207G>TCA354072781HGDc.1128C>A (p.Asp376Glu)
n.468C>A
c.407C>A (n.407C>A)
c.903C>A (p.Asp301Glu)
c.705C>A (p.Asp235Glu)
3g.120633208T>ACA354072782HGDc.1127A>T (p.Asp376Val)
n.467A>T
c.406A>T (n.406A>T)
c.902A>T (p.Asp301Val)
c.704A>T (p.Asp235Val)
3g.120633208T>CCA354072783HGDc.1127A>G (p.Asp376Gly)
n.467A>G
c.406A>G (n.406A>G)
c.902A>G (p.Asp301Gly)
c.704A>G (p.Asp235Gly)
3g.120633208T>GCA354072784HGDc.1127A>C (p.Asp376Ala)
n.467A>C
c.406A>C (n.406A>C)
c.902A>C (p.Asp301Ala)
c.704A>C (p.Asp235Ala)
3g.120633209C>ACA354072785HGDc.1126G>T (p.Asp376Tyr)
n.466G>T
c.405G>T (n.405G>T)
c.901G>T (p.Asp301Tyr)
c.703G>T (p.Asp235Tyr)
3g.120633209C>GCA354072786HGDc.1126G>C (p.Asp376His)
n.466G>C
c.405G>C (n.405G>C)
c.901G>C (p.Asp301His)
c.703G>C (p.Asp235His)
3g.120633209C>TCA354072787HGDc.1126G>A (p.Asp376Asn)
n.466G>A
c.405G>A (n.405G>A)
c.901G>A (p.Asp301Asn)
c.703G>A (p.Asp235Asn)
3g.120633210A=CA1397090719HGDc.1125T= (p.Ala375=)
n.465T=
c.404T= (n.404T=)
c.900T= (p.Ala300=)
c.702T= (p.Ala234=)
3g.120633210A>CCA435225862HGDc.1125T>G (p.Ala375=)
n.465T>G
c.404T>G (n.404T>G)
c.900T>G (p.Ala300=)
c.702T>G (p.Ala234=)
3g.120633210A>GCA435225864HGDc.1125T>C (p.Ala375=)
n.465T>C
c.404T>C (n.404T>C)
c.900T>C (p.Ala300=)
c.702T>C (p.Ala234=)
 dbSNP gnomAD v4
3g.120633210A>TCA435225866HGDc.1125T>A (p.Ala375=)
n.465T>A
c.404T>A (n.404T>A)
c.900T>A (p.Ala300=)
c.702T>A (p.Ala234=)
 gnomAD v4
3g.120633211G>ACA354072788HGDc.1124C>T (p.Ala375Val)
n.464C>T
c.403C>T (n.403C>T)
c.899C>T (p.Ala300Val)
c.701C>T (p.Ala234Val)
3g.120633211G>CCA354072789HGDc.1124C>G (p.Ala375Gly)
n.464C>G
c.403C>G (n.403C>G)
c.899C>G (p.Ala300Gly)
c.701C>G (p.Ala234Gly)
3g.120633211G>TCA354072790HGDc.1124C>A (p.Ala375Asp)
n.464C>A
c.403C>A (n.403C>A)
c.899C>A (p.Ala300Asp)
c.701C>A (p.Ala234Asp)
3g.120633212C>ACA354072791HGDc.1123G>T (p.Ala375Ser)
n.463G>T
c.402G>T (n.402G>T)
c.898G>T (p.Ala300Ser)
c.700G>T (p.Ala234Ser)
3g.120633212C>GCA354072792HGDc.1123G>C (p.Ala375Pro)
n.463G>C
c.402G>C (n.402G>C)
c.898G>C (p.Ala300Pro)
c.700G>C (p.Ala234Pro)
3g.120633212C>TCA354072793HGDc.1123G>A (p.Ala375Thr)
n.463G>A
c.402G>A (n.402G>A)
c.898G>A (p.Ala300Thr)
c.700G>A (p.Ala234Thr)
3g.120633213A>CCA354072795HGDc.1122T>G (p.Asp374Glu)
n.462T>G
c.401T>G (n.401T>G)
c.897T>G (p.Asp299Glu)
c.699T>G (p.Asp233Glu)
3g.120633213A>GCA435225873HGDc.1122T>C (p.Asp374=)
n.462T>C
c.401T>C (n.401T>C)
c.897T>C (p.Asp299=)
c.699T>C (p.Asp233=)
3g.120633213A>TCA354072794HGDc.1122T>A (p.Asp374Glu)
n.462T>A
c.401T>A (n.401T>A)
c.897T>A (p.Asp299Glu)
c.699T>A (p.Asp233Glu)
3g.120633214T>ACA354072796HGDc.1121A>T (p.Asp374Val)
n.461A>T
c.400A>T (n.400A>T)
c.896A>T (p.Asp299Val)
c.698A>T (p.Asp233Val)
3g.120633214T>CCA354072798HGDc.1121A>G (p.Asp374Gly)
n.461A>G
c.400A>G (n.400A>G)
c.896A>G (p.Asp299Gly)
c.698A>G (p.Asp233Gly)
3g.120633214T>GCA354072797HGDc.1121A>C (p.Asp374Ala)
n.461A>C
c.400A>C (n.400A>C)
c.896A>C (p.Asp299Ala)
c.698A>C (p.Asp233Ala)
3g.120633215C>ACA354072799HGDc.1120G>T (p.Asp374Tyr)
n.460G>T
c.399G>T (n.399G>T)
c.895G>T (p.Asp299Tyr)
c.697G>T (p.Asp233Tyr)
3g.120633215C=CA1397090720HGDc.1120G= (p.Asp374=)
n.460G=
c.399G= (n.399G=)
c.895G= (p.Asp299=)
c.697G= (p.Asp233=)
3g.120633215C>GCA81777915HGDc.1120G>C (p.Asp374His)
n.460G>C
c.399G>C (n.399G>C)
c.895G>C (p.Asp299His)
c.697G>C (p.Asp233His)
 ClinVar dbSNP gnomAD v4
3g.120633215C>TCA354072800HGDc.1120G>A (p.Asp374Asn)
n.460G>A
c.399G>A (n.399G>A)
c.895G>A (p.Asp299Asn)
c.697G>A (p.Asp233Asn)
3g.120633216A>CCA435225884HGDc.1119T>G (p.Pro373=)
n.459T>G
c.398T>G (n.398T>G)
c.894T>G (p.Pro298=)
c.696T>G (p.Pro232=)
3g.120633216A>GCA435225886HGDc.1119T>C (p.Pro373=)
n.459T>C
c.398T>C (n.398T>C)
c.894T>C (p.Pro298=)
c.696T>C (p.Pro232=)
3g.120633216A>TCA435225888HGDc.1119T>A (p.Pro373=)
n.459T>A
c.398T>A (n.398T>A)
c.894T>A (p.Pro298=)
c.696T>A (p.Pro232=)
3g.120633217G>ACA81777922HGDc.1118C>T (p.Pro373Leu)
n.458C>T
c.397C>T (n.397C>T)
c.893C>T (p.Pro298Leu)
c.695C>T (p.Pro232Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120633217G>CCA354072801HGDc.1118C>G (p.Pro373Arg)
n.458C>G
c.397C>G (n.397C>G)
c.893C>G (p.Pro298Arg)
c.695C>G (p.Pro232Arg)
3g.120633217G=CA1397090721HGDc.1118C= (p.Pro373=)
n.458C=
c.397C= (n.397C=)
c.893C= (p.Pro298=)
c.695C= (p.Pro232=)
3g.120633217G>TCA354072802HGDc.1118C>A (p.Pro373His)
n.458C>A
c.397C>A (n.397C>A)
c.893C>A (p.Pro298His)
c.695C>A (p.Pro232His)
3g.120633218G>ACA354072803HGDc.1117C>T (p.Pro373Ser)
n.457C>T
c.396C>T (n.396C>T)
c.892C>T (p.Pro298Ser)
c.694C>T (p.Pro232Ser)
 gnomAD v4
3g.120633218G>CCA354072804HGDc.1117C>G (p.Pro373Ala)
n.457C>G
c.396C>G (n.396C>G)
c.892C>G (p.Pro298Ala)
c.694C>G (p.Pro232Ala)
3g.120633218G>TCA354072805HGDc.1117C>A (p.Pro373Thr)
n.457C>A
c.396C>A (n.396C>A)
c.892C>A (p.Pro298Thr)
c.694C>A (p.Pro232Thr)
3g.120633218_120633220delCA2582342872HGDc.1115_1117del (p.Gly372_Pro373delinsAla)
n.455_457del
c.394_396del (n.394_396del)
c.890_892del (p.Gly297_Pro298delinsAla)
c.692_694del (p.Gly231_Pro232delinsAla)
 ClinVar
3g.120633219T>ACA435225897HGDc.1116A>T (p.Gly372=)
n.456A>T
c.395A>T (n.395A>T)
c.891A>T (p.Gly297=)
c.693A>T (p.Gly231=)
3g.120633219T>CCA435225901HGDc.1116A>G (p.Gly372=)
n.456A>G
c.395A>G (n.395A>G)
c.891A>G (p.Gly297=)
c.693A>G (p.Gly231=)
 gnomAD v4
3g.120633219T>GCA435225899HGDc.1116A>C (p.Gly372=)
n.456A>C
c.395A>C (n.395A>C)
c.891A>C (p.Gly297=)
c.693A>C (p.Gly231=)
3g.120633220C>ACA354072808HGDc.1115G>T (p.Gly372Val)
n.455G>T
c.394G>T (n.394G>T)
c.890G>T (p.Gly297Val)
c.692G>T (p.Gly231Val)
 ClinVar dbSNP gnomAD v4
3g.120633220C=CA1397090722HGDc.1115G= (p.Gly372=)
n.455G=
c.394G= (n.394G=)
c.890G= (p.Gly297=)
c.692G= (p.Gly231=)
3g.120633220C>GCA354072806HGDc.1115G>C (p.Gly372Ala)
n.455G>C
c.394G>C (n.394G>C)
c.890G>C (p.Gly297Ala)
c.692G>C (p.Gly231Ala)
3g.120633220C>TCA354072807HGDc.1115G>A (p.Gly372Glu)
n.455G>A
c.394G>A (n.394G>A)
c.890G>A (p.Gly297Glu)
c.692G>A (p.Gly231Glu)
 gnomAD v4
3g.120633221C>ACA354072809HGDc.1114G>T (p.Gly372Ter)
n.454G>T
c.393G>T (n.393G>T)
c.889G>T (p.Gly297Ter)
c.691G>T (p.Gly231Ter)
3g.120633221C=CA1397090723HGDc.1114G= (p.Gly372=)
n.454G=
c.393G= (n.393G=)
c.889G= (p.Gly297=)
c.691G= (p.Gly231=)
3g.120633221C>GCA354072810HGDc.1114G>C (p.Gly372Arg)
n.454G>C
c.393G>C (n.393G>C)
c.889G>C (p.Gly297Arg)
c.691G>C (p.Gly231Arg)
3g.120633221C>TCA354072811HGDc.1114G>A (p.Gly372Arg)
n.454G>A
c.393G>A (n.393G>A)
c.889G>A (p.Gly297Arg)
c.691G>A (p.Gly231Arg)
 ClinVar dbSNP
3g.120633222A>CCA354072812HGDc.1113T>G (p.His371Gln)
n.453T>G
c.392T>G (n.392T>G)
c.888T>G (p.His296Gln)
c.690T>G (p.His230Gln)
3g.120633222A>GCA435225910HGDc.1113T>C (p.His371=)
n.453T>C
c.392T>C (n.392T>C)
c.888T>C (p.His296=)
c.690T>C (p.His230=)
3g.120633222A>TCA354072813HGDc.1113T>A (p.His371Gln)
n.453T>A
c.392T>A (n.392T>A)
c.888T>A (p.His296Gln)
c.690T>A (p.His230Gln)
3g.120633223T>ACA354072814HGDc.1112A>T (p.His371Leu)
n.452A>T
c.391A>T (n.391A>T)
c.887A>T (p.His296Leu)
c.689A>T (p.His230Leu)
3g.120633223T>CCA277917HGDc.1112A>G (p.His371Arg)
n.452A>G
c.391A>G (n.391A>G)
c.887A>G (p.His296Arg)
c.689A>G (p.His230Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633223T>GCA354072815HGDc.1112A>C (p.His371Pro)
n.452A>C
c.391A>C (n.391A>C)
c.887A>C (p.His296Pro)
c.689A>C (p.His230Pro)
3g.120633223T=CA1397090724HGDc.1112A= (p.His371=)
n.452A=
c.391A= (n.391A=)
c.887A= (p.His296=)
c.689A= (p.His230=)
3g.120633223dupCA2580068663HGDc.1112dup (p.His371GlnfsTer4)
n.452dup
c.391dup (n.391dup)
c.887dup (p.His296GlnfsTer4)
c.689dup (p.His230GlnfsTer4)
 ClinVar gnomAD v4
3g.120633224G>ACA354072816HGDc.1111C>T (p.His371Tyr)
n.451C>T
c.390C>T (n.390C>T)
c.886C>T (p.His296Tyr)
c.688C>T (p.His230Tyr)
3g.120633224G>CCA354072817HGDc.1111C>G (p.His371Asp)
n.451C>G
c.390C>G (n.390C>G)
c.886C>G (p.His296Asp)
c.688C>G (p.His230Asp)
3g.120633224G=CA1397090725HGDc.1111C= (p.His371=)
n.451C=
c.390C= (n.390C=)
c.886C= (p.His296=)
c.688C= (p.His230=)
3g.120633224G>TCA81777944HGDc.1111C>A (p.His371Asn)
n.451C>A
c.390C>A (n.390C>A)
c.886C>A (p.His296Asn)
c.688C>A (p.His230Asn)
 dbSNP gnomAD v4
3g.120633229dupCA344902HGDc.1111dup (p.His371ProfsTer4)
n.451dup
c.390dup (n.390dup)
c.886dup (p.His296ProfsTer4)
c.688dup (p.His230ProfsTer4)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120633229delCA2573136433HGDc.1111del (p.His371MetfsTer?)
n.451del
c.390del (n.390del)
c.886del (p.His296MetfsTer?)
c.688del (p.His230MetfsTer?)
 ClinVar dbSNP gnomAD v4
3g.120633225G>ACA435225923HGDc.1110C>T (p.Pro370=)
n.450C>T
c.389C>T (n.389C>T)
c.885C>T (p.Pro295=)
c.687C>T (p.Pro229=)
 ClinVar gnomAD v4
3g.120633225G>CCA435225925HGDc.1110C>G (p.Pro370=)
n.450C>G
c.389C>G (n.389C>G)
c.885C>G (p.Pro295=)
c.687C>G (p.Pro229=)
3g.120633225G=CA1397090726HGDc.1110C= (p.Pro370=)
n.450C=
c.389C= (n.389C=)
c.885C= (p.Pro295=)
c.687C= (p.Pro229=)
3g.120633225G>TCA2559967HGDc.1110C>A (p.Pro370=)
n.450C>A
c.389C>A (n.389C>A)
c.885C>A (p.Pro295=)
c.687C>A (p.Pro229=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.120633226G>ACA354072818HGDc.1109C>T (p.Pro370Leu)
n.449C>T
c.388C>T (n.388C>T)
c.884C>T (p.Pro295Leu)
c.686C>T (p.Pro229Leu)
 COSMIC
3g.120633226G>CCA354072819HGDc.1109C>G (p.Pro370Arg)
n.449C>G
c.388C>G (n.388C>G)
c.884C>G (p.Pro295Arg)
c.686C>G (p.Pro229Arg)
3g.120633226G>TCA354072820HGDc.1109C>A (p.Pro370His)
n.449C>A
c.388C>A (n.388C>A)
c.884C>A (p.Pro295His)
c.686C>A (p.Pro229His)
3g.120633227G>ACA354072821HGDc.1108C>T (p.Pro370Ser)
n.448C>T
c.387C>T (n.387C>T)
c.883C>T (p.Pro295Ser)
c.685C>T (p.Pro229Ser)
 gnomAD v4
3g.120633227G>CCA354072822HGDc.1108C>G (p.Pro370Ala)
n.448C>G
c.387C>G (n.387C>G)
c.883C>G (p.Pro295Ala)
c.685C>G (p.Pro229Ala)
3g.120633227G>TCA354072823HGDc.1108C>A (p.Pro370Thr)
n.448C>A
c.387C>A (n.387C>A)
c.883C>A (p.Pro295Thr)
c.685C>A (p.Pro229Thr)
3g.120633228G>ACA435225939HGDc.1107C>T (p.Thr369=)
n.447C>T
c.386C>T (n.386C>T)
c.882C>T (p.Thr294=)
c.684C>T (p.Thr228=)
3g.120633228G>CCA435225936HGDc.1107C>G (p.Thr369=)
n.447C>G
c.386C>G (n.386C>G)
c.882C>G (p.Thr294=)
c.684C>G (p.Thr228=)
3g.120633228G=CA1397090727HGDc.1107C= (p.Thr369=)
n.447C=
c.386C= (n.386C=)
c.882C= (p.Thr294=)
c.684C= (p.Thr228=)
3g.120633228G>TCA435225935HGDc.1107C>A (p.Thr369=)
n.447C>A
c.386C>A (n.386C>A)
c.882C>A (p.Thr294=)
c.684C>A (p.Thr228=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.120633229G>ACA354072824HGDc.1106C>T (p.Thr369Ile)
n.446C>T
c.385C>T (n.385C>T)
c.881C>T (p.Thr294Ile)
c.683C>T (p.Thr228Ile)
3g.120633229G>CCA354072825HGDc.1106C>G (p.Thr369Ser)
n.446C>G
c.385C>G (n.385C>G)
c.881C>G (p.Thr294Ser)
c.683C>G (p.Thr228Ser)
 gnomAD v3 gnomAD v4
3g.120633229G=CA1397090728HGDc.1106C= (p.Thr369=)
n.446C=
c.385C= (n.385C=)
c.881C= (p.Thr294=)
c.683C= (p.Thr228=)
3g.120633229G>TCA2559968HGDc.1106C>A (p.Thr369Asn)
n.446C>A
c.385C>A (n.385C>A)
c.881C>A (p.Thr294Asn)
c.683C>A (p.Thr228Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633230T>ACA354072826HGDc.1105A>T (p.Thr369Ser)
n.445A>T
c.384A>T (n.384A>T)
c.880A>T (p.Thr294Ser)
c.682A>T (p.Thr228Ser)
3g.120633230T>CCA354072827HGDc.1105A>G (p.Thr369Ala)
n.445A>G
c.384A>G (n.384A>G)
c.880A>G (p.Thr294Ala)
c.682A>G (p.Thr228Ala)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.120633230T>GCA354072828HGDc.1105A>C (p.Thr369Pro)
n.445A>C
c.384A>C (n.384A>C)
c.880A>C (p.Thr294Pro)
c.682A>C (p.Thr228Pro)
3g.120633230T=CA1397090729HGDc.1105A= (p.Thr369=)
n.445A=
c.384A= (n.384A=)
c.880A= (p.Thr294=)
c.682A= (p.Thr228=)
3g.120633231C>ACA354072829HGDc.1104G>T (p.Met368Ile)
n.444G>T
c.383G>T (n.383G>T)
c.879G>T (p.Met293Ile)
c.681G>T (p.Met227Ile)
 dbSNP
3g.120633231C=CA1397090730HGDc.1104G= (p.Met368=)
n.444G=
c.383G= (n.383G=)
c.879G= (p.Met293=)
c.681G= (p.Met227=)
3g.120633231C>GCA354072830HGDc.1104G>C (p.Met368Ile)
n.444G>C
c.383G>C (n.383G>C)
c.879G>C (p.Met293Ile)
c.681G>C (p.Met227Ile)
3g.120633231C>TCA354072831HGDc.1104G>A (p.Met368Ile)
n.444G>A
c.383G>A (n.383G>A)
c.879G>A (p.Met293Ile)
c.681G>A (p.Met227Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.120633232A>CCA354072832HGDc.1103T>G (p.Met368Arg)
n.443T>G
c.382T>G (n.382T>G)
c.878T>G (p.Met293Arg)
c.680T>G (p.Met227Arg)
3g.120633232A>GCA354072833HGDc.1103T>C (p.Met368Thr)
n.443T>C
c.382T>C (n.382T>C)
c.878T>C (p.Met293Thr)
c.680T>C (p.Met227Thr)
3g.120633232A>TCA354072834HGDc.1103T>A (p.Met368Lys)
n.443T>A
c.382T>A (n.382T>A)
c.878T>A (p.Met293Lys)
c.680T>A (p.Met227Lys)
3g.120633233T>ACA354072835HGDc.1102A>T (p.Met368Leu)
n.442A>T
c.381A>T (n.381A>T)
c.877A>T (p.Met293Leu)
c.679A>T (p.Met227Leu)
3g.120633233T>CCA340048HGDc.1102A>G (p.Met368Val)
n.442A>G
c.381A>G (n.381A>G)
c.877A>G (p.Met293Val)
c.679A>G (p.Met227Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633233T>GCA354072836HGDc.1102A>C (p.Met368Leu)
n.442A>C
c.381A>C (n.381A>C)
c.877A>C (p.Met293Leu)
c.679A>C (p.Met227Leu)
3g.120633233T=CA1397090731HGDc.1102A= (p.Met368=)
n.442A=
c.381A= (n.381A=)
c.877A= (p.Met293=)
c.679A= (p.Met227=)
3g.120633234T>ACA435225960HGDc.1101A>T (p.Thr367=)
n.441A>T
c.380A>T (n.380A>T)
c.876A>T (p.Thr292=)
c.678A>T (p.Thr226=)
3g.120633234T>CCA435225961HGDc.1101A>G (p.Thr367=)
n.441A>G
c.380A>G (n.380A>G)
c.876A>G (p.Thr292=)
c.678A>G (p.Thr226=)
 gnomAD v4
3g.120633234T>GCA435225962HGDc.1101A>C (p.Thr367=)
n.441A>C
c.380A>C (n.380A>C)
c.876A>C (p.Thr292=)
c.678A>C (p.Thr226=)
3g.120633235G>ACA354072839HGDc.1100C>T (p.Thr367Ile)
n.440C>T
c.379C>T (n.379C>T)
c.875C>T (p.Thr292Ile)
c.677C>T (p.Thr226Ile)
 gnomAD v4
3g.120633235G>CCA354072837HGDc.1100C>G (p.Thr367Arg)
n.440C>G
c.379C>G (n.379C>G)
c.875C>G (p.Thr292Arg)
c.677C>G (p.Thr226Arg)
3g.120633235G>TCA354072838HGDc.1100C>A (p.Thr367Lys)
n.440C>A
c.379C>A (n.379C>A)
c.875C>A (p.Thr292Lys)
c.677C>A (p.Thr226Lys)
3g.120633235_120633240dupCA2582342873HGDc.1095_1100dup (p.Thr367_Met368insSerThr)
n.435_440dup
c.374_379dup (n.374_379dup)
c.870_875dup (p.Thr292_Met293insSerThr)
c.672_677dup (p.Thr226_Met227insSerThr)
 ClinVar
3g.120633236T>ACA354072840HGDc.1099A>T (p.Thr367Ser)
n.439A>T
c.378A>T (n.378A>T)
c.874A>T (p.Thr292Ser)
c.676A>T (p.Thr226Ser)
3g.120633236T>CCA354072841HGDc.1099A>G (p.Thr367Ala)
n.439A>G
c.378A>G (n.378A>G)
c.874A>G (p.Thr292Ala)
c.676A>G (p.Thr226Ala)
3g.120633236T>GCA354072842HGDc.1099A>C (p.Thr367Pro)
n.439A>C
c.378A>C (n.378A>C)
c.874A>C (p.Thr292Pro)
c.676A>C (p.Thr226Pro)
3g.120633237G>ACA435225967HGDc.1098C>T (p.Ser366=)
n.438C>T
c.377C>T (n.377C>T)
c.873C>T (p.Ser291=)
c.675C>T (p.Ser225=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.120633237G>CCA354072843HGDc.1098C>G (p.Ser366Arg)
n.438C>G
c.377C>G (n.377C>G)
c.873C>G (p.Ser291Arg)
c.675C>G (p.Ser225Arg)
3g.120633237G=CA1397090732HGDc.1098C= (p.Ser366=)
n.438C=
c.377C= (n.377C=)
c.873C= (p.Ser291=)
c.675C= (p.Ser225=)
3g.120633237G>TCA354072844HGDc.1098C>A (p.Ser366Arg)
n.438C>A
c.377C>A (n.377C>A)
c.873C>A (p.Ser291Arg)
c.675C>A (p.Ser225Arg)
3g.120633238C>ACA354072845HGDc.1097G>T (p.Ser366Ile)
n.437G>T
c.376G>T (n.376G>T)
c.872G>T (p.Ser291Ile)
c.674G>T (p.Ser225Ile)
 gnomAD v4 COSMIC
3g.120633238C=CA1397090733HGDc.1097G= (p.Ser366=)
n.437G=
c.376G= (n.376G=)
c.872G= (p.Ser291=)
c.674G= (p.Ser225=)
3g.120633238C>GCA354072846HGDc.1097G>C (p.Ser366Thr)
n.437G>C
c.376G>C (n.376G>C)
c.872G>C (p.Ser291Thr)
c.674G>C (p.Ser225Thr)
3g.120633238C>TCA2559969HGDc.1097G>A (p.Ser366Asn)
n.437G>A
c.376G>A (n.376G>A)
c.872G>A (p.Ser291Asn)
c.674G>A (p.Ser225Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633238_120633240delinsCTGCA1397090734HGDc.1095_1097delinsCAG (p.His365=)
n.435_437delinsCAG
c.374_376delinsCAG (n.374_376delinsCAG)
c.870_872delinsCAG (p.His290=)
c.672_674delinsCAG (p.His224=)
3g.120633239T>ACA354072847HGDc.1096A>T (p.Ser366Cys)
n.436A>T
c.375A>T (n.375A>T)
c.871A>T (p.Ser291Cys)
c.673A>T (p.Ser225Cys)
3g.120633239T>CCA354072848HGDc.1096A>G (p.Ser366Gly)
n.436A>G
c.375A>G (n.375A>G)
c.871A>G (p.Ser291Gly)
c.673A>G (p.Ser225Gly)
 dbSNP gnomAD v3 gnomAD v4
3g.120633239T>GCA354072849HGDc.1096A>C (p.Ser366Arg)
n.436A>C
c.375A>C (n.375A>C)
c.871A>C (p.Ser291Arg)
c.673A>C (p.Ser225Arg)
3g.120633239T=CA1397090736HGDc.1096A= (p.Ser366=)
n.436A=
c.375A= (n.375A=)
c.871A= (p.Ser291=)
c.673A= (p.Ser225=)
3g.120633242_120633243delCA1397090735HGDc.1095_1096del (p.His365GlnfsTer9)
n.435_436del
c.374_375del (n.374_375del)
c.870_871del (p.His290GlnfsTer9)
c.672_673del (p.His224GlnfsTer9)
 dbSNP
3g.120633240G>ACA435225980HGDc.1095C>T (p.His365=)
n.435C>T
c.374C>T (n.374C>T)
c.870C>T (p.His290=)
c.672C>T (p.His224=)
 dbSNP gnomAD v4
3g.120633240G>CCA354072851HGDc.1095C>G (p.His365Gln)
n.435C>G
c.374C>G (n.374C>G)
c.870C>G (p.His290Gln)
c.672C>G (p.His224Gln)
3g.120633240G=CA1397090737HGDc.1095C= (p.His365=)
n.435C=
c.374C= (n.374C=)
c.870C= (p.His290=)
c.672C= (p.His224=)
3g.120633240G>TCA354072850HGDc.1095C>A (p.His365Gln)
n.435C>A
c.374C>A (n.374C>A)
c.870C>A (p.His290Gln)
c.672C>A (p.His224Gln)
3g.120633241T>ACA354072852HGDc.1094A>T (p.His365Leu)
n.434A>T
c.373A>T (n.373A>T)
c.869A>T (p.His290Leu)
c.671A>T (p.His224Leu)
3g.120633241T>CCA354072854HGDc.1094A>G (p.His365Arg)
n.434A>G
c.373A>G (n.373A>G)
c.869A>G (p.His290Arg)
c.671A>G (p.His224Arg)
3g.120633241T>GCA354072853HGDc.1094A>C (p.His365Pro)
n.434A>C
c.373A>C (n.373A>C)
c.869A>C (p.His290Pro)
c.671A>C (p.His224Pro)
3g.120633242G>ACA354072855HGDc.1093C>T (p.His365Tyr)
n.433C>T
c.372C>T (n.372C>T)
c.868C>T (p.His290Tyr)
c.670C>T (p.His224Tyr)
 gnomAD v4
3g.120633242G>CCA354072856HGDc.1093C>G (p.His365Asp)
n.433C>G
c.372C>G (n.372C>G)
c.868C>G (p.His290Asp)
c.670C>G (p.His224Asp)
3g.120633242G>TCA354072857HGDc.1093C>A (p.His365Asn)
n.433C>A
c.372C>A (n.372C>A)
c.868C>A (p.His290Asn)
c.670C>A (p.His224Asn)
3g.120633243T>ACA435225992HGDc.1092A>T (p.Leu364=)
n.432A>T
c.371A>T (n.371A>T)
c.867A>T (p.Leu289=)
c.669A>T (p.Leu223=)
3g.120633243T>CCA435225993HGDc.1092A>G (p.Leu364=)
n.432A>G
c.371A>G (n.371A>G)
c.867A>G (p.Leu289=)
c.669A>G (p.Leu223=)
 COSMIC
3g.120633243T>GCA435225995HGDc.1092A>C (p.Leu364=)
n.432A>C
c.371A>C (n.371A>C)
c.867A>C (p.Leu289=)
c.669A>C (p.Leu223=)
3g.120633244A>CCA354072858HGDc.1091T>G (p.Leu364Arg)
n.431T>G
c.370T>G (n.370T>G)
c.866T>G (p.Leu289Arg)
c.668T>G (p.Leu223Arg)
3g.120633244A>GCA354072859HGDc.1091T>C (p.Leu364Pro)
n.431T>C
c.370T>C (n.370T>C)
c.866T>C (p.Leu289Pro)
c.668T>C (p.Leu223Pro)
3g.120633244A>TCA354072860HGDc.1091T>A (p.Leu364Gln)
n.431T>A
c.370T>A (n.370T>A)
c.866T>A (p.Leu289Gln)
c.668T>A (p.Leu223Gln)
3g.120633245G>ACA435226000HGDc.1090C>T (p.Leu364=)
n.430C>T
c.369C>T (n.369C>T)
c.865C>T (p.Leu289=)
c.667C>T (p.Leu223=)
3g.120633245G>CCA354072861HGDc.1090C>G (p.Leu364Val)
n.430C>G
c.369C>G (n.369C>G)
c.865C>G (p.Leu289Val)
c.667C>G (p.Leu223Val)
3g.120633245G>TCA354072862HGDc.1090C>A (p.Leu364Ile)
n.430C>A
c.369C>A (n.369C>A)
c.865C>A (p.Leu289Ile)
c.667C>A (p.Leu223Ile)
3g.120633246A>CCA354072863HGDc.1089T>G (p.Ser363Arg)
n.429T>G
c.368T>G (n.368T>G)
c.864T>G (p.Ser288Arg)
c.666T>G (p.Ser222Arg)
3g.120633246A>GCA435226004HGDc.1089T>C (p.Ser363=)
n.429T>C
c.368T>C (n.368T>C)
c.864T>C (p.Ser288=)
c.666T>C (p.Ser222=)
3g.120633246A>TCA354072864HGDc.1089T>A (p.Ser363Arg)
n.429T>A
c.368T>A (n.368T>A)
c.864T>A (p.Ser288Arg)
c.666T>A (p.Ser222Arg)
3g.120633247C>ACA354072867HGDc.1088G>T (p.Ser363Ile)
n.428G>T
c.367G>T (n.367G>T)
c.863G>T (p.Ser288Ile)
c.665G>T (p.Ser222Ile)
3g.120633247C>GCA354072866HGDc.1088G>C (p.Ser363Thr)
n.428G>C
c.367G>C (n.367G>C)
c.863G>C (p.Ser288Thr)
c.665G>C (p.Ser222Thr)
3g.120633247C>TCA354072865HGDc.1088G>A (p.Ser363Asn)
n.428G>A
c.367G>A (n.367G>A)
c.863G>A (p.Ser288Asn)
c.665G>A (p.Ser222Asn)
 gnomAD v4
3g.120633248T>ACA354072868HGDc.1087A>T (p.Ser363Cys)
n.427A>T
c.366A>T (n.366A>T)
c.862A>T (p.Ser288Cys)
c.664A>T (p.Ser222Cys)
3g.120633248T>CCA354072869HGDc.1087A>G (p.Ser363Gly)
n.427A>G
c.366A>G (n.366A>G)
c.862A>G (p.Ser288Gly)
c.664A>G (p.Ser222Gly)
3g.120633248T>GCA354072870HGDc.1087A>C (p.Ser363Arg)
n.427A>C
c.366A>C (n.366A>C)
c.862A>C (p.Ser288Arg)
c.664A>C (p.Ser222Arg)
3g.120633249C>ACA435226014HGDc.1086G>T (p.Gly362=)
n.426G>T
c.365G>T (n.365G>T)
c.861G>T (p.Gly287=)
c.663G>T (p.Gly221=)
3g.120633249C>GCA435226016HGDc.1086G>C (p.Gly362=)
n.426G>C
c.365G>C (n.365G>C)
c.861G>C (p.Gly287=)
c.663G>C (p.Gly221=)
3g.120633249C>TCA435226012HGDc.1086G>A (p.Gly362=)
n.426G>A
c.365G>A (n.365G>A)
c.861G>A (p.Gly287=)
c.663G>A (p.Gly221=)
 gnomAD v4
3g.120633250C>ACA354072871HGDc.1085G>T (p.Gly362Val)
n.425G>T
c.364G>T (n.364G>T)
c.860G>T (p.Gly287Val)
c.662G>T (p.Gly221Val)
3g.120633250C>GCA354072872HGDc.1085G>C (p.Gly362Ala)
n.425G>C
c.364G>C (n.364G>C)
c.860G>C (p.Gly287Ala)
c.662G>C (p.Gly221Ala)
3g.120633250C>TCA354072873HGDc.1085G>A (p.Gly362Glu)
n.425G>A
c.364G>A (n.364G>A)
c.860G>A (p.Gly287Glu)
c.662G>A (p.Gly221Glu)
 ClinVar gnomAD v4 COSMIC
3g.120633251C>ACA354072874HGDc.1084G>T (p.Gly362Trp)
n.424G>T
c.363G>T (n.363G>T)
c.859G>T (p.Gly287Trp)
c.661G>T (p.Gly221Trp)
3g.120633251C>GCA354072875HGDc.1084G>C (p.Gly362Arg)
n.424G>C
c.363G>C (n.363G>C)
c.859G>C (p.Gly287Arg)
c.661G>C (p.Gly221Arg)
 gnomAD v4
3g.120633251C>TCA354072876HGDc.1084G>A (p.Gly362Arg)
n.424G>A
c.363G>A (n.363G>A)
c.859G>A (p.Gly287Arg)
c.661G>A (p.Gly221Arg)
 ClinVar dbSNP gnomAD v4
3g.120633252T>ACA435226024HGDc.1083A>T (p.Gly361=)
n.423A>T
c.362A>T (n.362A>T)
c.858A>T (p.Gly286=)
c.660A>T (p.Gly220=)
3g.120633252T>CCA435226026HGDc.1083A>G (p.Gly361=)
n.423A>G
c.362A>G (n.362A>G)
c.858A>G (p.Gly286=)
c.660A>G (p.Gly220=)
 gnomAD v4
3g.120633252T>GCA435226028HGDc.1083A>C (p.Gly361=)
n.423A>C
c.362A>C (n.362A>C)
c.858A>C (p.Gly286=)
c.660A>C (p.Gly220=)
3g.120633253C>ACA354072877HGDc.1082G>T (p.Gly361Val)
n.422G>T
c.361G>T (n.361G>T)
c.857G>T (p.Gly286Val)
c.659G>T (p.Gly220Val)
3g.120633253C=CA1397090738HGDc.1082G= (p.Gly361=)
n.422G=
c.361G= (n.361G=)
c.857G= (p.Gly286=)
c.659G= (p.Gly220=)
3g.120633253C>GCA81777955HGDc.1082G>C (p.Gly361Ala)
n.422G>C
c.361G>C (n.361G>C)
c.857G>C (p.Gly286Ala)
c.659G>C (p.Gly220Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.120633253C>TCA354072878HGDc.1082G>A (p.Gly361Glu)
n.422G>A
c.361G>A (n.361G>A)
c.857G>A (p.Gly286Glu)
c.659G>A (p.Gly220Glu)
 COSMIC
3g.120633257delCA645535941HGDc.1082del (p.Gly361GlufsTer8)
n.422del
c.361del (n.361del)
c.857del (p.Gly286GlufsTer8)
c.659del (p.Gly220GlufsTer8)
 COSMIC
3g.120633254C>ACA354072880HGDc.1081G>T (p.Gly361Ter)
n.421G>T
c.360G>T (n.360G>T)
c.856G>T (p.Gly286Ter)
c.658G>T (p.Gly220Ter)
3g.120633254C=CA1397090739HGDc.1081G= (p.Gly361=)
n.421G=
c.360G= (n.360G=)
c.856G= (p.Gly286=)
c.658G= (p.Gly220=)
3g.120633254C>GCA2559970HGDc.1081G>C (p.Gly361Arg)
n.421G>C
c.360G>C (n.360G>C)
c.856G>C (p.Gly286Arg)
c.658G>C (p.Gly220Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120633254C>TCA354072879HGDc.1081G>A (p.Gly361Arg)
n.421G>A
c.360G>A (n.360G>A)
c.856G>A (p.Gly286Arg)
c.658G>A (p.Gly220Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.120633255C>ACA435226037HGDc.1080G>T (p.Gly360=)
n.420G>T
c.359G>T (n.359G>T)
c.855G>T (p.Gly285=)
c.657G>T (p.Gly219=)
3g.120633255C=CA1397090740HGDc.1080G= (p.Gly360=)
n.420G=
c.359G= (n.359G=)
c.855G= (p.Gly285=)
c.657G= (p.Gly219=)
3g.120633255C>GCA435226038HGDc.1080G>C (p.Gly360=)
n.420G>C
c.359G>C (n.359G>C)
c.855G>C (p.Gly285=)
c.657G>C (p.Gly219=)
 ClinVar dbSNP
3g.120633255C>TCA2559971HGDc.1080G>A (p.Gly360=)
n.420G>A
c.359G>A (n.359G>A)
c.855G>A (p.Gly285=)
c.657G>A (p.Gly219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.120633256C>ACA354072881HGDc.1079G>T (p.Gly360Val)
n.419G>T
c.358G>T (n.358G>T)
c.854G>T (p.Gly285Val)
c.656G>T (p.Gly219Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120633256C=CA1397090741HGDc.1079G= (p.Gly360=)
n.419G=
c.358G= (n.358G=)
c.854G= (p.Gly285=)
c.656G= (p.Gly219=)
3g.120633256C>GCA354072882HGDc.1079G>C (p.Gly360Ala)
n.419G>C
c.358G>C (n.358G>C)
c.854G>C (p.Gly285Ala)
c.656G>C (p.Gly219Ala)
 ClinVar gnomAD v4
3g.120633256C>TCA354072883HGDc.1079G>A (p.Gly360Glu)
n.419G>A
c.358G>A (n.358G>A)
c.854G>A (p.Gly285Glu)
c.656G>A (p.Gly219Glu)
3g.120633257C>ACA354072884HGDc.1078G>T (p.Gly360Trp)
n.418G>T
c.357G>T (n.357G>T)
c.853G>T (p.Gly285Trp)
c.655G>T (p.Gly219Trp)
3g.120633257C=CA1397090742HGDc.1078G= (p.Gly360=)
n.418G=
c.357G= (n.357G=)
c.853G= (p.Gly285=)
c.655G= (p.Gly219=)
3g.120633257C>GCA2559972HGDc.1078G>C (p.Gly360Arg)
n.418G>C
c.357G>C (n.357G>C)
c.853G>C (p.Gly285Arg)
c.655G>C (p.Gly219Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633257C>TCA354072885HGDc.1078G>A (p.Gly360Arg)
n.418G>A
c.357G>A (n.357G>A)
c.853G>A (p.Gly285Arg)
c.655G>A (p.Gly219Arg)
3g.120633258T>ACA435226049HGDc.1077A>T (p.Pro359=)
n.417A>T
c.356A>T (n.356A>T)
c.852A>T (p.Pro284=)
c.654A>T (p.Pro218=)
3g.120633258T>CCA435226050HGDc.1077A>G (p.Pro359=)
n.417A>G
c.356A>G (n.356A>G)
c.852A>G (p.Pro284=)
c.654A>G (p.Pro218=)
3g.120633258T>GCA435226052HGDc.1077A>C (p.Pro359=)
n.417A>C
c.356A>C (n.356A>C)
c.852A>C (p.Pro284=)
c.654A>C (p.Pro218=)
3g.120633259G>ACA2559973HGDc.1076C>T (p.Pro359Leu)
n.416C>T
c.355C>T (n.355C>T)
c.851C>T (p.Pro284Leu)
c.653C>T (p.Pro218Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633259G>CCA354072886HGDc.1076C>G (p.Pro359Arg)
n.416C>G
c.355C>G (n.355C>G)
c.851C>G (p.Pro284Arg)
c.653C>G (p.Pro218Arg)
3g.120633259G=CA1397090743HGDc.1076C= (p.Pro359=)
n.416C=
c.355C= (n.355C=)
c.851C= (p.Pro284=)
c.653C= (p.Pro218=)
3g.120633259G>TCA354072887HGDc.1076C>A (p.Pro359Gln)
n.416C>A
c.355C>A (n.355C>A)
c.851C>A (p.Pro284Gln)
c.653C>A (p.Pro218Gln)
3g.120633260G>ACA354072888HGDc.1075C>T (p.Pro359Ser)
n.415C>T
c.354C>T (n.354C>T)
c.850C>T (p.Pro284Ser)
c.652C>T (p.Pro218Ser)
 ClinVar
3g.120633260G>CCA354072889HGDc.1075C>G (p.Pro359Ala)
n.415C>G
c.354C>G (n.354C>G)
c.850C>G (p.Pro284Ala)
c.652C>G (p.Pro218Ala)
3g.120633260G>TCA354072890HGDc.1075C>A (p.Pro359Thr)
n.415C>A
c.354C>A (n.354C>A)
c.850C>A (p.Pro284Thr)
c.652C>A (p.Pro218Thr)
3g.120633261C>ACA435226061HGDc.1074G>T (p.Leu358=)
n.414G>T
c.353G>T (n.353G>T)
c.849G>T (p.Leu283=)
c.651G>T (p.Leu217=)
3g.120633261C=CA1397090744HGDc.1074G= (p.Leu358=)
n.414G=
c.353G= (n.353G=)
c.849G= (p.Leu283=)
c.651G= (p.Leu217=)
3g.120633261C>GCA435226063HGDc.1074G>C (p.Leu358=)
n.414G>C
c.353G>C (n.353G>C)
c.849G>C (p.Leu283=)
c.651G>C (p.Leu217=)
3g.120633261C>TCA435226065HGDc.1074G>A (p.Leu358=)
n.414G>A
c.353G>A (n.353G>A)
c.849G>A (p.Leu283=)
c.651G>A (p.Leu217=)
 dbSNP gnomAD v2 gnomAD v4
3g.120633262A>CCA354072893HGDc.1073T>G (p.Leu358Arg)
n.413T>G
c.352T>G (n.352T>G)
c.848T>G (p.Leu283Arg)
c.650T>G (p.Leu217Arg)
3g.120633262A>GCA354072892HGDc.1073T>C (p.Leu358Pro)
n.413T>C
c.352T>C (n.352T>C)
c.848T>C (p.Leu283Pro)
c.650T>C (p.Leu217Pro)
 gnomAD v4
3g.120633262A>TCA354072891HGDc.1073T>A (p.Leu358Gln)
n.413T>A
c.352T>A (n.352T>A)
c.848T>A (p.Leu283Gln)
c.650T>A (p.Leu217Gln)
3g.120633263G>ACA435226070HGDc.1072C>T (p.Leu358=)
n.412C>T
c.351C>T (n.351C>T)
c.847C>T (p.Leu283=)
c.649C>T (p.Leu217=)
3g.120633263G>CCA354072894HGDc.1072C>G (p.Leu358Val)
n.412C>G
c.351C>G (n.351C>G)
c.847C>G (p.Leu283Val)
c.649C>G (p.Leu217Val)
3g.120633263G>TCA354072895HGDc.1072C>A (p.Leu358Met)
n.412C>A
c.351C>A (n.351C>A)
c.847C>A (p.Leu283Met)
c.649C>A (p.Leu217Met)
 gnomAD v4
3g.120633264G>ACA435226073HGDc.1071C>T (p.Phe357=)
n.411C>T
c.350C>T (n.350C>T)
c.846C>T (p.Phe282=)
c.648C>T (p.Phe216=)
 COSMIC
3g.120633264G>CCA354072896HGDc.1071C>G (p.Phe357Leu)
n.411C>G
c.350C>G (n.350C>G)
c.846C>G (p.Phe282Leu)
c.648C>G (p.Phe216Leu)
3g.120633264G>TCA354072897HGDc.1071C>A (p.Phe357Leu)
n.411C>A
c.350C>A (n.350C>A)
c.846C>A (p.Phe282Leu)
c.648C>A (p.Phe216Leu)
 gnomAD v4
3g.120633265A>CCA354072898HGDc.1070T>G (p.Phe357Cys)
n.410T>G
c.349T>G (n.349T>G)
c.845T>G (p.Phe282Cys)
c.647T>G (p.Phe216Cys)
3g.120633265A>GCA354072899HGDc.1070T>C (p.Phe357Ser)
n.410T>C
c.349T>C (n.349T>C)
c.845T>C (p.Phe282Ser)
c.647T>C (p.Phe216Ser)
3g.120633265A>TCA354072900HGDc.1070T>A (p.Phe357Tyr)
n.410T>A
c.349T>A (n.349T>A)
c.845T>A (p.Phe282Tyr)
c.647T>A (p.Phe216Tyr)
3g.120633266A=CA1397090745HGDc.1069T= (p.Phe357=)
n.409T=
c.348T= (n.348T=)
c.844T= (p.Phe282=)
c.646T= (p.Phe216=)
3g.120633266A>CCA354072901HGDc.1069T>G (p.Phe357Val)
n.409T>G
c.348T>G (n.348T>G)
c.844T>G (p.Phe282Val)
c.646T>G (p.Phe216Val)
3g.120633266A>GCA354072902HGDc.1069T>C (p.Phe357Leu)
n.409T>C
c.348T>C (n.348T>C)
c.844T>C (p.Phe282Leu)
c.646T>C (p.Phe216Leu)
 gnomAD v4
3g.120633266A>TCA2559974HGDc.1069T>A (p.Phe357Ile)
n.409T>A
c.348T>A (n.348T>A)
c.844T>A (p.Phe282Ile)
c.646T>A (p.Phe216Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120633267C>ACA435226085HGDc.1068G>T (p.Gly356=)
n.408G>T
c.347G>T (n.347G>T)
c.843G>T (p.Gly281=)
c.645G>T (p.Gly215=)
3g.120633267C=CA1397090746HGDc.1068G= (p.Gly356=)
n.408G=
c.347G= (n.347G=)
c.843G= (p.Gly281=)
c.645G= (p.Gly215=)
3g.120633267C>GCA435226087HGDc.1068G>C (p.Gly356=)
n.408G>C
c.347G>C (n.347G>C)
c.843G>C (p.Gly281=)
c.645G>C (p.Gly215=)
3g.120633267C>TCA435226089HGDc.1068G>A (p.Gly356=)
n.408G>A
c.347G>A (n.347G>A)
c.843G>A (p.Gly281=)
c.645G>A (p.Gly215=)
 ClinVar dbSNP
3g.120633268C>ACA354072903HGDc.1067G>T (p.Gly356Val)
n.407G>T
c.346G>T (n.346G>T)
c.842G>T (p.Gly281Val)
c.644G>T (p.Gly215Val)
3g.120633268C=CA1397090747HGDc.1067G= (p.Gly356=)
n.407G=
c.346G= (n.346G=)
c.842G= (p.Gly281=)
c.644G= (p.Gly215=)
3g.120633268C>GCA354072904HGDc.1067G>C (p.Gly356Ala)
n.407G>C
c.346G>C (n.346G>C)
c.842G>C (p.Gly281Ala)
c.644G>C (p.Gly215Ala)
3g.120633268C>TCA354072905HGDc.1067G>A (p.Gly356Glu)
n.407G>A
c.346G>A (n.346G>A)
c.842G>A (p.Gly281Glu)
c.644G>A (p.Gly215Glu)
 dbSNP gnomAD v2
3g.120633269C>ACA354072908HGDc.1066G>T (p.Gly356Trp)
n.406G>T
c.345G>T (n.345G>T)
c.841G>T (p.Gly281Trp)
c.643G>T (p.Gly215Trp)
3g.120633269C>GCA354072907HGDc.1066G>C (p.Gly356Arg)
n.406G>C
c.345G>C (n.345G>C)
c.841G>C (p.Gly281Arg)
c.643G>C (p.Gly215Arg)
3g.120633269C>TCA354072906HGDc.1066G>A (p.Gly356Arg)
n.406G>A
c.345G>A (n.345G>A)
c.841G>A (p.Gly281Arg)
c.643G>A (p.Gly215Arg)
3g.120633270A=CA1397090748HGDc.1065T= (p.Gly355=)
n.405T=
c.344T= (n.344T=)
c.840T= (p.Gly280=)
c.642T= (p.Gly214=)
3g.120633270A>CCA435226098HGDc.1065T>G (p.Gly355=)
n.405T>G
c.344T>G (n.344T>G)
c.840T>G (p.Gly280=)
c.642T>G (p.Gly214=)
3g.120633270A>GCA435226101HGDc.1065T>C (p.Gly355=)
n.405T>C
c.344T>C (n.344T>C)
c.840T>C (p.Gly280=)
c.642T>C (p.Gly214=)
3g.120633270A>TCA435226099HGDc.1065T>A (p.Gly355=)
n.405T>A
c.344T>A (n.344T>A)
c.840T>A (p.Gly280=)
c.642T>A (p.Gly214=)
3g.120633271C>ACA354072909HGDc.1064G>T (p.Gly355Val)
n.404G>T
c.343G>T (n.343G>T)
c.839G>T (p.Gly280Val)
c.641G>T (p.Gly214Val)
 gnomAD v4
3g.120633271C=CA1397090749HGDc.1064G= (p.Gly355=)
n.404G=
c.343G= (n.343G=)
c.839G= (p.Gly280=)
c.641G= (p.Gly214=)
3g.120633271C>GCA354072910HGDc.1064G>C (p.Gly355Ala)
n.404G>C
c.343G>C (n.343G>C)
c.839G>C (p.Gly280Ala)
c.641G>C (p.Gly214Ala)
3g.120633271C>TCA2559975HGDc.1064G>A (p.Gly355Asp)
n.404G>A
c.343G>A (n.343G>A)
c.839G>A (p.Gly280Asp)
c.641G>A (p.Gly214Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120633272dupCA16040885HGDc.1064dup (p.Gly356TrpfsTer19)
n.404dup
c.343dup (n.343dup)
c.839dup (p.Gly281TrpfsTer19)
c.641dup (p.Gly215TrpfsTer19)
 ClinVar dbSNP
3g.120633272C>ACA354072911HGDc.1063G>T (p.Gly355Cys)
n.403G>T
c.342G>T (n.342G>T)
c.838G>T (p.Gly280Cys)
c.640G>T (p.Gly214Cys)
3g.120633272C=CA1397090750HGDc.1063G= (p.Gly355=)
n.403G=
c.342G= (n.342G=)
c.838G= (p.Gly280=)
c.640G= (p.Gly214=)
3g.120633272C>GCA354072912HGDc.1063G>C (p.Gly355Arg)
n.403G>C
c.342G>C (n.342G>C)
c.838G>C (p.Gly280Arg)
c.640G>C (p.Gly214Arg)
 gnomAD v4
3g.120633272C>TCA81777983HGDc.1063G>A (p.Gly355Ser)
n.403G>A
c.342G>A (n.342G>A)
c.838G>A (p.Gly280Ser)
c.640G>A (p.Gly214Ser)
 dbSNP
3g.120633273T>ACA354072913HGDc.1062A>T (p.Gln354His)
n.402A>T
c.341A>T (n.341A>T)
c.837A>T (p.Gln279His)
c.639A>T (p.Gln213His)
3g.120633273T>CCA435226123HGDc.1062A>G (p.Gln354=)
n.402A>G
c.341A>G (n.341A>G)
c.837A>G (p.Gln279=)
c.639A>G (p.Gln213=)
3g.120633273T>GCA354072914HGDc.1062A>C (p.Gln354His)
n.402A>C
c.341A>C (n.341A>C)
c.837A>C (p.Gln279His)
c.639A>C (p.Gln213His)
3g.120633274T>ACA354072915HGDc.1061A>T (p.Gln354Leu)
n.401A>T
c.340A>T (n.340A>T)
c.836A>T (p.Gln279Leu)
c.638A>T (p.Gln213Leu)
3g.120633274T>CCA354072916HGDc.1061A>G (p.Gln354Arg)
n.401A>G
c.340A>G (n.340A>G)
c.836A>G (p.Gln279Arg)
c.638A>G (p.Gln213Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.120633274T>GCA354072917HGDc.1061A>C (p.Gln354Pro)
n.401A>C
c.340A>C (n.340A>C)
c.836A>C (p.Gln279Pro)
c.638A>C (p.Gln213Pro)
 ClinVar gnomAD v4
3g.120633274T=CA1397090751HGDc.1061A= (p.Gln354=)
n.401A=
c.340A= (n.340A=)
c.836A= (p.Gln279=)
c.638A= (p.Gln213=)
3g.120633275G>ACA2559976HGDc.1060C>T (p.Gln354Ter)
n.400C>T
c.339C>T (n.339C>T)
c.835C>T (p.Gln279Ter)
c.637C>T (p.Gln213Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.120633275G>CCA354072918HGDc.1060C>G (p.Gln354Glu)
n.400C>G
c.339C>G (n.339C>G)
c.835C>G (p.Gln279Glu)
c.637C>G (p.Gln213Glu)
 COSMIC
3g.120633275G=CA1397090752HGDc.1060C= (p.Gln354=)
n.400C=
c.339C= (n.339C=)
c.835C= (p.Gln279=)
c.637C= (p.Gln213=)
3g.120633275G>TCA354072919HGDc.1060C>A (p.Gln354Lys)
n.400C>A
c.339C>A (n.339C>A)
c.835C>A (p.Gln279Lys)
c.637C>A (p.Gln213Lys)
3g.120633276C>ACA354072920HGDc.1059G>T (p.Lys353Asn)
n.399G>T
c.338G>T (n.338G>T)
c.834G>T (p.Lys278Asn)
c.636G>T (p.Lys212Asn)
3g.120633276C>GCA354072921HGDc.1059G>C (p.Lys353Asn)
n.399G>C
c.338G>C (n.338G>C)
c.834G>C (p.Lys278Asn)
c.636G>C (p.Lys212Asn)
3g.120633276C>TCA435226141HGDc.1059G>A (p.Lys353=)
n.399G>A
c.338G>A (n.338G>A)
c.834G>A (p.Lys278=)
c.636G>A (p.Lys212=)
 COSMIC
3g.120633277T>ACA354072924HGDc.1058A>T (p.Lys353Met)
n.398A>T
c.337A>T (n.337A>T)
c.833A>T (p.Lys278Met)
c.635A>T (p.Lys212Met)
3g.120633277T>CCA354072923HGDc.1058A>G (p.Lys353Arg)
n.398A>G
c.337A>G (n.337A>G)
c.833A>G (p.Lys278Arg)
c.635A>G (p.Lys212Arg)
3g.120633277T>GCA354072922HGDc.1058A>C (p.Lys353Thr)
n.398A>C
c.337A>C (n.337A>C)
c.833A>C (p.Lys278Thr)
c.635A>C (p.Lys212Thr)
3g.120633278T>ACA354072925HGDc.1057A>T (p.Lys353Ter)
n.397A>T
c.336A>T (n.336A>T)
c.832A>T (p.Lys278Ter)
c.634A>T (p.Lys212Ter)
3g.120633278T>CCA354072926HGDc.1057A>G (p.Lys353Glu)
n.397A>G
c.336A>G (n.336A>G)
c.832A>G (p.Lys278Glu)
c.634A>G (p.Lys212Glu)
3g.120633278T>GCA354072927HGDc.1057A>C (p.Lys353Gln)
n.397A>C
c.336A>C (n.336A>C)
c.832A>C (p.Lys278Gln)
c.634A>C (p.Lys212Gln)
 ClinVar dbSNP gnomAD v4
3g.120633278T=CA1397090753HGDc.1057A= (p.Lys353=)
n.397A=
c.336A= (n.336A=)
c.832A= (p.Lys278=)
c.634A= (p.Lys212=)
3g.120633279T>ACA435226153HGDc.1056A>T (p.Ala352=)
n.396A>T
c.335A>T (n.335A>T)
c.831A>T (p.Ala277=)
c.633A>T (p.Ala211=)
3g.120633279T>CCA435226154HGDc.1056A>G (p.Ala352=)
n.396A>G
c.335A>G (n.335A>G)
c.831A>G (p.Ala277=)
c.633A>G (p.Ala211=)
3g.120633279T>GCA435226156HGDc.1056A>C (p.Ala352=)
n.396A>C
c.335A>C (n.335A>C)
c.831A>C (p.Ala277=)
c.633A>C (p.Ala211=)
3g.120633280G>ACA354072928HGDc.1055C>T (p.Ala352Val)
n.395C>T
c.334C>T (n.334C>T)
c.830C>T (p.Ala277Val)
c.632C>T (p.Ala211Val)
3g.120633280G>CCA354072929HGDc.1055C>G (p.Ala352Gly)
n.395C>G
c.334C>G (n.334C>G)
c.830C>G (p.Ala277Gly)
c.632C>G (p.Ala211Gly)
3g.120633280G>TCA354072930HGDc.1055C>A (p.Ala352Glu)
n.395C>A
c.334C>A (n.334C>A)
c.830C>A (p.Ala277Glu)
c.632C>A (p.Ala211Glu)
3g.120633281C>ACA354072931HGDc.1054G>T (p.Ala352Ser)
n.394G>T
c.333G>T (n.333G>T)
c.829G>T (p.Ala277Ser)
c.631G>T (p.Ala211Ser)
3g.120633281C>GCA354072932HGDc.1054G>C (p.Ala352Pro)
n.394G>C
c.333G>C (n.333G>C)
c.829G>C (p.Ala277Pro)
c.631G>C (p.Ala211Pro)
3g.120633281C>TCA354072933HGDc.1054G>A (p.Ala352Thr)
n.394G>A
c.333G>A (n.333G>A)
c.829G>A (p.Ala277Thr)
c.631G>A (p.Ala211Thr)
3g.120633282C>ACA354072934HGDc.1053G>T (p.Glu351Asp)
n.393G>T
c.332G>T (n.332G>T)
c.828G>T (p.Glu276Asp)
c.630G>T (p.Glu210Asp)
3g.120633282C=CA1397090754HGDc.1053G= (p.Glu351=)
n.393G=
c.332G= (n.332G=)
c.828G= (p.Glu276=)
c.630G= (p.Glu210=)
3g.120633282C>GCA354072935HGDc.1053G>C (p.Glu351Asp)
n.393G>C
c.332G>C (n.332G>C)
c.828G>C (p.Glu276Asp)
c.630G>C (p.Glu210Asp)
3g.120633282C>TCA435226165HGDc.1053G>A (p.Glu351=)
n.393G>A
c.332G>A (n.332G>A)
c.828G>A (p.Glu276=)
c.630G>A (p.Glu210=)
 dbSNP gnomAD v2 gnomAD v4
3g.120633283T>ACA354072937HGDc.1052A>T (p.Glu351Val)
n.392A>T
c.331A>T (n.331A>T)
c.827A>T (p.Glu276Val)
c.629A>T (p.Glu210Val)
3g.120633283T>CCA354072938HGDc.1052A>G (p.Glu351Gly)
n.392A>G
c.331A>G (n.331A>G)
c.827A>G (p.Glu276Gly)
c.629A>G (p.Glu210Gly)
3g.120633283T>GCA354072936HGDc.1052A>C (p.Glu351Ala)
n.392A>C
c.331A>C (n.331A>C)
c.827A>C (p.Glu276Ala)
c.629A>C (p.Glu210Ala)
3g.120633284C>ACA354072939HGDc.1051G>T (p.Glu351Ter)
n.391G>T
c.330G>T (n.330G>T)
c.826G>T (p.Glu276Ter)
c.628G>T (p.Glu210Ter)
3g.120633284C>GCA354072940HGDc.1051G>C (p.Glu351Gln)
n.391G>C
c.330G>C (n.330G>C)
c.826G>C (p.Glu276Gln)
c.628G>C (p.Glu210Gln)
3g.120633284C>TCA354072941HGDc.1051G>A (p.Glu351Lys)
n.391G>A
c.330G>A (n.330G>A)
c.826G>A (p.Glu276Lys)
c.628G>A (p.Glu210Lys)
3g.120633285A>CCA354072942HGDc.1050T>G (p.Tyr350Ter)
n.390T>G
c.329T>G (n.329T>G)
c.825T>G (p.Tyr275Ter)
c.627T>G (p.Tyr209Ter)
 gnomAD v4
3g.120633285A>GCA435226174HGDc.1050T>C (p.Tyr350=)
n.390T>C
c.329T>C (n.329T>C)
c.825T>C (p.Tyr275=)
c.627T>C (p.Tyr209=)
3g.120633285A>TCA354072943HGDc.1050T>A (p.Tyr350Ter)
n.390T>A
c.329T>A (n.329T>A)
c.825T>A (p.Tyr275Ter)
c.627T>A (p.Tyr209Ter)

Number of alleles fetched