Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.45329096_45333380delinsTACA259818 ClinVar
1g.45332457_45332463delinsCGTGCTACA2473712739MUTYHc.642_648delinsTAGCACG (p.Arg214=)
c.632_638delinsTAGCACG (p.Val211=)
c.*371_*377delinsTAGCACG (p.=)
c.1220_1226delinsTAGCACG (p.Val407=)
c.600_606delinsTAGCACG (p.Arg200=)
c.*605_*611delinsTAGCACG (p.=)
c.591_597delinsTAGCACG (p.Arg197=)
c.707_713delinsTAGCACG (p.Val236=)
c.*329_*335delinsTAGCACG (p.=)
n.660_666delinsTAGCACG (p.=)
c.635_641delinsTAGCACG (p.Val212=)
c.677_683delinsTAGCACG (p.Val226=)
c.674_680delinsTAGCACG (p.Val225=)
c.248_254delinsTAGCACG (p.Val83=)
c.665_671delinsTAGCACG (p.Val222=)
c.716_722delinsTAGCACG (p.Val239=)
n.323_329delinsTAGCACG
n.26_32delinsTAGCACG (p.Val9=)
c.*555_*561delinsTAGCACG (p.=)
c.519_525delinsTAGCACG (p.Arg173=)
c.*445_*451delinsTAGCACG (p.=)
n.619_625delinsTAGCACG
c.187+300_187+306delinsTAGCACG (p.=)
c.*283_*289delinsTAGCACG (p.=)
c.115+1928_115+1934delinsTAGCACG (p.=)
n.261_267delinsTAGCACG (p.Arg87=)
c.356_362delinsTAGCACG (p.Val119=)
c.692_698delinsTAGCACG (p.Val231=)
c.254_260delinsTAGCACG (p.Val85=)
c.245_251delinsTAGCACG (p.Val82=)
c.260_266delinsTAGCACG (p.Val87=)
n.763_769delinsTAGCACG
c.287_293delinsTAGCACG (p.Val96=)
n.890_896delinsTAGCACG
n.704_710delinsTAGCACG
c.116_122delinsTAGCACG (p.Val39=)
n.677_683delinsTAGCACG
n.489_495delinsTAGCACG
n.669_675delinsTAGCACG
n.1204_1210delinsTAGCACG
n.777_783delinsTAGCACG
n.860_866delinsTAGCACG
n.709_715delinsTAGCACG
1g.45332458G>ACA014196MUTYHc.647C>T (p.Thr216Met)
c.637C>T (p.Arg213Trp)
c.*376C>T (p.=)
c.1225C>T (p.Arg409Trp)
c.605C>T (p.Thr202Met)
c.*610C>T (p.=)
c.596C>T (p.Thr199Met)
c.712C>T (p.Arg238Trp)
c.*334C>T (p.=)
n.665C>T (p.=)
c.640C>T (p.Arg214Trp)
c.682C>T (p.Arg228Trp)
c.679C>T (p.Arg227Trp)
c.253C>T (p.Arg85Trp)
c.670C>T (p.Arg224Trp)
c.721C>T (p.Arg241Trp)
n.328C>T
n.31C>T (p.Arg11Trp)
c.*560C>T (p.=)
c.524C>T (p.Thr175Met)
c.*450C>T (p.=)
n.624C>T
c.187+305C>T (p.=)
c.*288C>T (p.=)
c.115+1933C>T (p.=)
n.266C>T (p.Thr89Met)
c.361C>T (p.Arg121Trp)
c.697C>T (p.Arg233Trp)
c.259C>T (p.Arg87Trp)
c.250C>T (p.Arg84Trp)
c.265C>T (p.Arg89Trp)
n.768C>T
c.292C>T (p.Arg98Trp)
n.895C>T
n.709C>T
c.121C>T (p.Arg41Trp)
n.682C>T
n.494C>T
n.674C>T
n.1209C>T
n.782C>T
n.865C>T
n.714C>T
ClinVar dbSNP ExAC gnomAD
1g.45332458G>CCA340134866MUTYHc.647C>G (p.Thr216Arg)
c.637C>G (p.Arg213Gly)
c.*376C>G (p.=)
c.1225C>G (p.Arg409Gly)
c.605C>G (p.Thr202Arg)
c.*610C>G (p.=)
c.596C>G (p.Thr199Arg)
c.712C>G (p.Arg238Gly)
c.*334C>G (p.=)
n.665C>G (p.=)
c.640C>G (p.Arg214Gly)
c.682C>G (p.Arg228Gly)
c.679C>G (p.Arg227Gly)
c.253C>G (p.Arg85Gly)
c.670C>G (p.Arg224Gly)
c.721C>G (p.Arg241Gly)
n.328C>G
n.31C>G (p.Arg11Gly)
c.*560C>G (p.=)
c.524C>G (p.Thr175Arg)
c.*450C>G (p.=)
n.624C>G
c.187+305C>G (p.=)
c.*288C>G (p.=)
c.115+1933C>G (p.=)
n.266C>G (p.Thr89Arg)
c.361C>G (p.Arg121Gly)
c.697C>G (p.Arg233Gly)
c.259C>G (p.Arg87Gly)
c.250C>G (p.Arg84Gly)
c.265C>G (p.Arg89Gly)
n.768C>G
c.292C>G (p.Arg98Gly)
n.895C>G
n.709C>G
c.121C>G (p.Arg41Gly)
n.682C>G
n.494C>G
n.674C>G
n.1209C>G
n.782C>G
n.865C>G
n.714C>G
1g.45332458G=CA1140503448MUTYHc.647C= (p.Thr216=)
c.637C= (p.Arg213=)
c.*376C= (p.=)
c.1225C= (p.Arg409=)
c.605C= (p.Thr202=)
c.*610C= (p.=)
c.596C= (p.Thr199=)
c.712C= (p.Arg238=)
c.*334C= (p.=)
n.665C= (p.=)
c.640C= (p.Arg214=)
c.682C= (p.Arg228=)
c.679C= (p.Arg227=)
c.253C= (p.Arg85=)
c.670C= (p.Arg224=)
c.721C= (p.Arg241=)
n.328C=
n.31C= (p.Arg11=)
c.*560C= (p.=)
c.524C= (p.Thr175=)
c.*450C= (p.=)
n.624C=
c.187+305C= (p.=)
c.*288C= (p.=)
c.115+1933C= (p.=)
n.266C= (p.Thr89=)
c.361C= (p.Arg121=)
c.697C= (p.Arg233=)
c.259C= (p.Arg87=)
c.250C= (p.Arg84=)
c.265C= (p.Arg89=)
n.768C=
c.292C= (p.Arg98=)
n.895C=
n.709C=
c.121C= (p.Arg41=)
n.682C=
n.494C=
n.674C=
n.1209C=
n.782C=
n.865C=
n.714C=
1g.45332458G>TCA417880260MUTYHc.647C>A (p.Thr216Lys)
c.637C>A (p.Arg213=)
c.*376C>A (p.=)
c.1225C>A (p.Arg409=)
c.605C>A (p.Thr202Lys)
c.*610C>A (p.=)
c.596C>A (p.Thr199Lys)
c.712C>A (p.Arg238=)
c.*334C>A (p.=)
n.665C>A (p.=)
c.640C>A (p.Arg214=)
c.682C>A (p.Arg228=)
c.679C>A (p.Arg227=)
c.253C>A (p.Arg85=)
c.670C>A (p.Arg224=)
c.721C>A (p.Arg241=)
n.328C>A
n.31C>A (p.Arg11=)
c.*560C>A (p.=)
c.524C>A (p.Thr175Lys)
c.*450C>A (p.=)
n.624C>A
c.187+305C>A (p.=)
c.*288C>A (p.=)
c.115+1933C>A (p.=)
n.266C>A (p.Thr89Lys)
c.361C>A (p.Arg121=)
c.697C>A (p.Arg233=)
c.259C>A (p.Arg87=)
c.250C>A (p.Arg84=)
c.265C>A (p.Arg89=)
n.768C>A
c.292C>A (p.Arg98=)
n.895C>A
n.709C>A
c.121C>A (p.Arg41=)
n.682C>A
n.494C>A
n.674C>A
n.1209C>A
n.782C>A
n.865C>A
n.714C>A
1g.45332458_45332463delinsAGCAGCTGCA16617162MUTYHc.642_647delinsCAGCTGCT (p.Thr216CysfsTer?)
c.632_637delinsCAGCTGCT (p.Val211AlafsTer28)
c.*371_*376delinsCAGCTGCT (p.=)
c.1220_1225delinsCAGCTGCT (p.Val407AlafsTer28)
c.600_605delinsCAGCTGCT (p.Thr202CysfsTer?)
c.*605_*610delinsCAGCTGCT (p.=)
c.591_596delinsCAGCTGCT (p.Thr199CysfsTer?)
c.707_712delinsCAGCTGCT (p.Val236AlafsTer28)
c.*329_*334delinsCAGCTGCT (p.=)
n.660_665delinsCAGCTGCT (p.=)
c.635_640delinsCAGCTGCT (p.Val212AlafsTer28)
c.677_682delinsCAGCTGCT (p.Val226AlafsTer28)
c.674_679delinsCAGCTGCT (p.Val225AlafsTer28)
c.248_253delinsCAGCTGCT (p.Val83AlafsTer28)
c.665_670delinsCAGCTGCT (p.Val222AlafsTer28)
c.716_721delinsCAGCTGCT (p.Val239AlafsTer28)
n.323_328delinsCAGCTGCT
n.26_31delinsCAGCTGCT (p.Val9AlafsTer28)
c.*555_*560delinsCAGCTGCT (p.=)
c.519_524delinsCAGCTGCT (p.Thr175CysfsTer?)
c.*445_*450delinsCAGCTGCT (p.=)
n.619_624delinsCAGCTGCT
c.187+300_187+305delinsCAGCTGCT (p.=)
c.*283_*288delinsCAGCTGCT (p.=)
c.115+1928_115+1933delinsCAGCTGCT (p.=)
n.261_266delinsCAGCTGCT (p.Thr89CysfsTer?)
c.356_361delinsCAGCTGCT (p.Val119AlafsTer28)
c.692_697delinsCAGCTGCT (p.Val231AlafsTer28)
c.254_259delinsCAGCTGCT (p.Val85AlafsTer28)
c.245_250delinsCAGCTGCT (p.Val82AlafsTer28)
c.260_265delinsCAGCTGCT (p.Val87AlafsTer28)
n.763_768delinsCAGCTGCT
c.287_292delinsCAGCTGCT (p.Val96AlafsTer28)
n.890_895delinsCAGCTGCT
n.704_709delinsCAGCTGCT
c.116_121delinsCAGCTGCT (p.Val39AlafsTer28)
n.677_682delinsCAGCTGCT
n.489_494delinsCAGCTGCT
n.669_674delinsCAGCTGCT
n.1204_1209delinsCAGCTGCT
n.777_782delinsCAGCTGCT
n.860_865delinsCAGCTGCT
n.709_714delinsCAGCTGCT
ClinVar dbSNP
1g.45332459T>ACA417880261MUTYHc.646A>T (p.Thr216Ser)
c.636A>T (p.Ala212=)
c.*375A>T (p.=)
c.1224A>T (p.Ala408=)
c.604A>T (p.Thr202Ser)
c.*609A>T (p.=)
c.595A>T (p.Thr199Ser)
c.711A>T (p.Ala237=)
c.*333A>T (p.=)
n.664A>T (p.=)
c.639A>T (p.Ala213=)
c.681A>T (p.Ala227=)
c.678A>T (p.Ala226=)
c.252A>T (p.Ala84=)
c.669A>T (p.Ala223=)
c.720A>T (p.Ala240=)
n.327A>T
n.30A>T (p.Ala10=)
c.*559A>T (p.=)
c.523A>T (p.Thr175Ser)
c.*449A>T (p.=)
n.623A>T
c.187+304A>T (p.=)
c.*287A>T (p.=)
c.115+1932A>T (p.=)
n.265A>T (p.Thr89Ser)
c.360A>T (p.Ala120=)
c.696A>T (p.Ala232=)
c.258A>T (p.Ala86=)
c.249A>T (p.Ala83=)
c.264A>T (p.Ala88=)
n.767A>T
c.291A>T (p.Ala97=)
n.894A>T
n.708A>T
c.120A>T (p.Ala40=)
n.681A>T
n.493A>T
n.673A>T
n.1208A>T
n.781A>T
n.864A>T
n.713A>T
1g.45332459T>CCA417880262MUTYHc.646A>G (p.Thr216Ala)
c.636A>G (p.Ala212=)
c.*375A>G (p.=)
c.1224A>G (p.Ala408=)
c.604A>G (p.Thr202Ala)
c.*609A>G (p.=)
c.595A>G (p.Thr199Ala)
c.711A>G (p.Ala237=)
c.*333A>G (p.=)
n.664A>G (p.=)
c.639A>G (p.Ala213=)
c.681A>G (p.Ala227=)
c.678A>G (p.Ala226=)
c.252A>G (p.Ala84=)
c.669A>G (p.Ala223=)
c.720A>G (p.Ala240=)
n.327A>G
n.30A>G (p.Ala10=)
c.*559A>G (p.=)
c.523A>G (p.Thr175Ala)
c.*449A>G (p.=)
n.623A>G
c.187+304A>G (p.=)
c.*287A>G (p.=)
c.115+1932A>G (p.=)
n.265A>G (p.Thr89Ala)
c.360A>G (p.Ala120=)
c.696A>G (p.Ala232=)
c.258A>G (p.Ala86=)
c.249A>G (p.Ala83=)
c.264A>G (p.Ala88=)
n.767A>G
c.291A>G (p.Ala97=)
n.894A>G
n.708A>G
c.120A>G (p.Ala40=)
n.681A>G
n.493A>G
n.673A>G
n.1208A>G
n.781A>G
n.864A>G
n.713A>G
1g.45332459T>GCA417880263MUTYHc.646A>C (p.Thr216Pro)
c.636A>C (p.Ala212=)
c.*375A>C (p.=)
c.1224A>C (p.Ala408=)
c.604A>C (p.Thr202Pro)
c.*609A>C (p.=)
c.595A>C (p.Thr199Pro)
c.711A>C (p.Ala237=)
c.*333A>C (p.=)
n.664A>C (p.=)
c.639A>C (p.Ala213=)
c.681A>C (p.Ala227=)
c.678A>C (p.Ala226=)
c.252A>C (p.Ala84=)
c.669A>C (p.Ala223=)
c.720A>C (p.Ala240=)
n.327A>C
n.30A>C (p.Ala10=)
c.*559A>C (p.=)
c.523A>C (p.Thr175Pro)
c.*449A>C (p.=)
n.623A>C
c.187+304A>C (p.=)
c.*287A>C (p.=)
c.115+1932A>C (p.=)
n.265A>C (p.Thr89Pro)
c.360A>C (p.Ala120=)
c.696A>C (p.Ala232=)
c.258A>C (p.Ala86=)
c.249A>C (p.Ala83=)
c.264A>C (p.Ala88=)
n.767A>C
c.291A>C (p.Ala97=)
n.894A>C
n.708A>C
c.120A>C (p.Ala40=)
n.681A>C
n.493A>C
n.673A>C
n.1208A>C
n.781A>C
n.864A>C
n.713A>C
1g.45332460G>ACA014186MUTYHc.645C>T (p.Ser215=)
c.635C>T (p.Ala212Val)
c.*374C>T (p.=)
c.1223C>T (p.Ala408Val)
c.603C>T (p.Ser201=)
c.*608C>T (p.=)
c.594C>T (p.Ser198=)
c.710C>T (p.Ala237Val)
c.*332C>T (p.=)
n.663C>T (p.=)
c.638C>T (p.Ala213Val)
c.680C>T (p.Ala227Val)
c.677C>T (p.Ala226Val)
c.251C>T (p.Ala84Val)
c.668C>T (p.Ala223Val)
c.719C>T (p.Ala240Val)
n.326C>T
n.29C>T (p.Ala10Val)
c.*558C>T (p.=)
c.522C>T (p.Ser174=)
c.*448C>T (p.=)
n.622C>T
c.187+303C>T (p.=)
c.*286C>T (p.=)
c.115+1931C>T (p.=)
n.264C>T (p.Ser88=)
c.359C>T (p.Ala120Val)
c.695C>T (p.Ala232Val)
c.257C>T (p.Ala86Val)
c.248C>T (p.Ala83Val)
c.263C>T (p.Ala88Val)
n.766C>T
c.290C>T (p.Ala97Val)
n.893C>T
n.707C>T
c.119C>T (p.Ala40Val)
n.680C>T
n.492C>T
n.672C>T
n.1207C>T
n.780C>T
n.863C>T
n.712C>T
ClinVar dbSNP ExAC gnomAD
1g.45332460G>CCA340134868MUTYHc.645C>G (p.Ser215Arg)
c.635C>G (p.Ala212Gly)
c.*374C>G (p.=)
c.1223C>G (p.Ala408Gly)
c.603C>G (p.Ser201Arg)
c.*608C>G (p.=)
c.594C>G (p.Ser198Arg)
c.710C>G (p.Ala237Gly)
c.*332C>G (p.=)
n.663C>G (p.=)
c.638C>G (p.Ala213Gly)
c.680C>G (p.Ala227Gly)
c.677C>G (p.Ala226Gly)
c.251C>G (p.Ala84Gly)
c.668C>G (p.Ala223Gly)
c.719C>G (p.Ala240Gly)
n.326C>G
n.29C>G (p.Ala10Gly)
c.*558C>G (p.=)
c.522C>G (p.Ser174Arg)
c.*448C>G (p.=)
n.622C>G
c.187+303C>G (p.=)
c.*286C>G (p.=)
c.115+1931C>G (p.=)
n.264C>G (p.Ser88Arg)
c.359C>G (p.Ala120Gly)
c.695C>G (p.Ala232Gly)
c.257C>G (p.Ala86Gly)
c.248C>G (p.Ala83Gly)
c.263C>G (p.Ala88Gly)
n.766C>G
c.290C>G (p.Ala97Gly)
n.893C>G
n.707C>G
c.119C>G (p.Ala40Gly)
n.680C>G
n.492C>G
n.672C>G
n.1207C>G
n.780C>G
n.863C>G
n.712C>G
1g.45332460G=CA1143642607MUTYHc.645C= (p.Ser215=)
c.635C= (p.Ala212=)
c.*374C= (p.=)
c.1223C= (p.Ala408=)
c.603C= (p.Ser201=)
c.*608C= (p.=)
c.594C= (p.Ser198=)
c.710C= (p.Ala237=)
c.*332C= (p.=)
n.663C= (p.=)
c.638C= (p.Ala213=)
c.680C= (p.Ala227=)
c.677C= (p.Ala226=)
c.251C= (p.Ala84=)
c.668C= (p.Ala223=)
c.719C= (p.Ala240=)
n.326C=
n.29C= (p.Ala10=)
c.*558C= (p.=)
c.522C= (p.Ser174=)
c.*448C= (p.=)
n.622C=
c.187+303C= (p.=)
c.*286C= (p.=)
c.115+1931C= (p.=)
n.264C= (p.Ser88=)
c.359C= (p.Ala120=)
c.695C= (p.Ala232=)
c.257C= (p.Ala86=)
c.248C= (p.Ala83=)
c.263C= (p.Ala88=)
n.766C=
c.290C= (p.Ala97=)
n.893C=
n.707C=
c.119C= (p.Ala40=)
n.680C=
n.492C=
n.672C=
n.1207C=
n.780C=
n.863C=
n.712C=
1g.45332460G>TCA340134870MUTYHc.645C>A (p.Ser215Arg)
c.635C>A (p.Ala212Glu)
c.*374C>A (p.=)
c.1223C>A (p.Ala408Glu)
c.603C>A (p.Ser201Arg)
c.*608C>A (p.=)
c.594C>A (p.Ser198Arg)
c.710C>A (p.Ala237Glu)
c.*332C>A (p.=)
n.663C>A (p.=)
c.638C>A (p.Ala213Glu)
c.680C>A (p.Ala227Glu)
c.677C>A (p.Ala226Glu)
c.251C>A (p.Ala84Glu)
c.668C>A (p.Ala223Glu)
c.719C>A (p.Ala240Glu)
n.326C>A
n.29C>A (p.Ala10Glu)
c.*558C>A (p.=)
c.522C>A (p.Ser174Arg)
c.*448C>A (p.=)
n.622C>A
c.187+303C>A (p.=)
c.*286C>A (p.=)
c.115+1931C>A (p.=)
n.264C>A (p.Ser88Arg)
c.359C>A (p.Ala120Glu)
c.695C>A (p.Ala232Glu)
c.257C>A (p.Ala86Glu)
c.248C>A (p.Ala83Glu)
c.263C>A (p.Ala88Glu)
n.766C>A
c.290C>A (p.Ala97Glu)
n.893C>A
n.707C>A
c.119C>A (p.Ala40Glu)
n.680C>A
n.492C>A
n.672C>A
n.1207C>A
n.780C>A
n.863C>A
n.712C>A
1g.45332461C>ACA340134871MUTYHc.644G>T (p.Ser215Ile)
c.634G>T (p.Ala212Ser)
c.*373G>T (p.=)
c.1222G>T (p.Ala408Ser)
c.602G>T (p.Ser201Ile)
c.*607G>T (p.=)
c.593G>T (p.Ser198Ile)
c.709G>T (p.Ala237Ser)
c.*331G>T (p.=)
n.662G>T (p.=)
c.637G>T (p.Ala213Ser)
c.679G>T (p.Ala227Ser)
c.676G>T (p.Ala226Ser)
c.250G>T (p.Ala84Ser)
c.667G>T (p.Ala223Ser)
c.718G>T (p.Ala240Ser)
n.325G>T
n.28G>T (p.Ala10Ser)
c.*557G>T (p.=)
c.521G>T (p.Ser174Ile)
c.*447G>T (p.=)
n.621G>T
c.187+302G>T (p.=)
c.*285G>T (p.=)
c.115+1930G>T (p.=)
n.263G>T (p.Ser88Ile)
c.358G>T (p.Ala120Ser)
c.694G>T (p.Ala232Ser)
c.256G>T (p.Ala86Ser)
c.247G>T (p.Ala83Ser)
c.262G>T (p.Ala88Ser)
n.765G>T
c.289G>T (p.Ala97Ser)
n.892G>T
n.706G>T
c.118G>T (p.Ala40Ser)
n.679G>T
n.491G>T
n.671G>T
n.1206G>T
n.779G>T
n.862G>T
n.711G>T
1g.45332461C=CA2473712740MUTYHc.644G= (p.Ser215=)
c.634G= (p.Ala212=)
c.*373G= (p.=)
c.1222G= (p.Ala408=)
c.602G= (p.Ser201=)
c.*607G= (p.=)
c.593G= (p.Ser198=)
c.709G= (p.Ala237=)
c.*331G= (p.=)
n.662G= (p.=)
c.637G= (p.Ala213=)
c.679G= (p.Ala227=)
c.676G= (p.Ala226=)
c.250G= (p.Ala84=)
c.667G= (p.Ala223=)
c.718G= (p.Ala240=)
n.325G=
n.28G= (p.Ala10=)
c.*557G= (p.=)
c.521G= (p.Ser174=)
c.*447G= (p.=)
n.621G=
c.187+302G= (p.=)
c.*285G= (p.=)
c.115+1930G= (p.=)
n.263G= (p.Ser88=)
c.358G= (p.Ala120=)
c.694G= (p.Ala232=)
c.256G= (p.Ala86=)
c.247G= (p.Ala83=)
c.262G= (p.Ala88=)
n.765G=
c.289G= (p.Ala97=)
n.892G=
n.706G=
c.118G= (p.Ala40=)
n.679G=
n.491G=
n.671G=
n.1206G=
n.779G=
n.862G=
n.711G=
1g.45332461C>GCA340134873MUTYHc.644G>C (p.Ser215Thr)
c.634G>C (p.Ala212Pro)
c.*373G>C (p.=)
c.1222G>C (p.Ala408Pro)
c.602G>C (p.Ser201Thr)
c.*607G>C (p.=)
c.593G>C (p.Ser198Thr)
c.709G>C (p.Ala237Pro)
c.*331G>C (p.=)
n.662G>C (p.=)
c.637G>C (p.Ala213Pro)
c.679G>C (p.Ala227Pro)
c.676G>C (p.Ala226Pro)
c.250G>C (p.Ala84Pro)
c.667G>C (p.Ala223Pro)
c.718G>C (p.Ala240Pro)
n.325G>C
n.28G>C (p.Ala10Pro)
c.*557G>C (p.=)
c.521G>C (p.Ser174Thr)
c.*447G>C (p.=)
n.621G>C
c.187+302G>C (p.=)
c.*285G>C (p.=)
c.115+1930G>C (p.=)
n.263G>C (p.Ser88Thr)
c.358G>C (p.Ala120Pro)
c.694G>C (p.Ala232Pro)
c.256G>C (p.Ala86Pro)
c.247G>C (p.Ala83Pro)
c.262G>C (p.Ala88Pro)
n.765G>C
c.289G>C (p.Ala97Pro)
n.892G>C
n.706G>C
c.118G>C (p.Ala40Pro)
n.679G>C
n.491G>C
n.671G>C
n.1206G>C
n.779G>C
n.862G>C
n.711G>C
ClinVar
1g.45332461C>TCA058824MUTYHc.644G>A (p.Ser215Asn)
c.634G>A (p.Ala212Thr)
c.*373G>A (p.=)
c.1222G>A (p.Ala408Thr)
c.602G>A (p.Ser201Asn)
c.*607G>A (p.=)
c.593G>A (p.Ser198Asn)
c.709G>A (p.Ala237Thr)
c.*331G>A (p.=)
n.662G>A (p.=)
c.637G>A (p.Ala213Thr)
c.679G>A (p.Ala227Thr)
c.676G>A (p.Ala226Thr)
c.250G>A (p.Ala84Thr)
c.667G>A (p.Ala223Thr)
c.718G>A (p.Ala240Thr)
n.325G>A
n.28G>A (p.Ala10Thr)
c.*557G>A (p.=)
c.521G>A (p.Ser174Asn)
c.*447G>A (p.=)
n.621G>A
c.187+302G>A (p.=)
c.*285G>A (p.=)
c.115+1930G>A (p.=)
n.263G>A (p.Ser88Asn)
c.358G>A (p.Ala120Thr)
c.694G>A (p.Ala232Thr)
c.256G>A (p.Ala86Thr)
c.247G>A (p.Ala83Thr)
c.262G>A (p.Ala88Thr)
n.765G>A
c.289G>A (p.Ala97Thr)
n.892G>A
n.706G>A
c.118G>A (p.Ala40Thr)
n.679G>A
n.491G>A
n.671G>A
n.1206G>A
n.779G>A
n.862G>A
n.711G>A
ClinVar dbSNP ExAC gnomAD
1g.45332462T>ACA417880265MUTYHc.643A>T (p.Ser215Cys)
c.633A>T (p.Val211=)
c.*372A>T (p.=)
c.1221A>T (p.Val407=)
c.601A>T (p.Ser201Cys)
c.*606A>T (p.=)
c.592A>T (p.Ser198Cys)
c.708A>T (p.Val236=)
c.*330A>T (p.=)
n.661A>T (p.=)
c.636A>T (p.Val212=)
c.678A>T (p.Val226=)
c.675A>T (p.Val225=)
c.249A>T (p.Val83=)
c.666A>T (p.Val222=)
c.717A>T (p.Val239=)
n.324A>T
n.27A>T (p.Val9=)
c.*556A>T (p.=)
c.520A>T (p.Ser174Cys)
c.*446A>T (p.=)
n.620A>T
c.187+301A>T (p.=)
c.*284A>T (p.=)
c.115+1929A>T (p.=)
n.262A>T (p.Ser88Cys)
c.357A>T (p.Val119=)
c.693A>T (p.Val231=)
c.255A>T (p.Val85=)
c.246A>T (p.Val82=)
c.261A>T (p.Val87=)
n.764A>T
c.288A>T (p.Val96=)
n.891A>T
n.705A>T
c.117A>T (p.Val39=)
n.678A>T
n.490A>T
n.670A>T
n.1205A>T
n.778A>T
n.861A>T
n.710A>T
1g.45332462T>CCA417880266MUTYHc.643A>G (p.Ser215Gly)
c.633A>G (p.Val211=)
c.*372A>G (p.=)
c.1221A>G (p.Val407=)
c.601A>G (p.Ser201Gly)
c.*606A>G (p.=)
c.592A>G (p.Ser198Gly)
c.708A>G (p.Val236=)
c.*330A>G (p.=)
n.661A>G (p.=)
c.636A>G (p.Val212=)
c.678A>G (p.Val226=)
c.675A>G (p.Val225=)
c.249A>G (p.Val83=)
c.666A>G (p.Val222=)
c.717A>G (p.Val239=)
n.324A>G
n.27A>G (p.Val9=)
c.*556A>G (p.=)
c.520A>G (p.Ser174Gly)
c.*446A>G (p.=)
n.620A>G
c.187+301A>G (p.=)
c.*284A>G (p.=)
c.115+1929A>G (p.=)
n.262A>G (p.Ser88Gly)
c.357A>G (p.Val119=)
c.693A>G (p.Val231=)
c.255A>G (p.Val85=)
c.246A>G (p.Val82=)
c.261A>G (p.Val87=)
n.764A>G
c.288A>G (p.Val96=)
n.891A>G
n.705A>G
c.117A>G (p.Val39=)
n.678A>G
n.490A>G
n.670A>G
n.1205A>G
n.778A>G
n.861A>G
n.710A>G
ClinVar
1g.45332462T>GCA417880264MUTYHc.643A>C (p.Ser215Arg)
c.633A>C (p.Val211=)
c.*372A>C (p.=)
c.1221A>C (p.Val407=)
c.601A>C (p.Ser201Arg)
c.*606A>C (p.=)
c.592A>C (p.Ser198Arg)
c.708A>C (p.Val236=)
c.*330A>C (p.=)
n.661A>C (p.=)
c.636A>C (p.Val212=)
c.678A>C (p.Val226=)
c.675A>C (p.Val225=)
c.249A>C (p.Val83=)
c.666A>C (p.Val222=)
c.717A>C (p.Val239=)
n.324A>C
n.27A>C (p.Val9=)
c.*556A>C (p.=)
c.520A>C (p.Ser174Arg)
c.*446A>C (p.=)
n.620A>C
c.187+301A>C (p.=)
c.*284A>C (p.=)
c.115+1929A>C (p.=)
n.262A>C (p.Ser88Arg)
c.357A>C (p.Val119=)
c.693A>C (p.Val231=)
c.255A>C (p.Val85=)
c.246A>C (p.Val82=)
c.261A>C (p.Val87=)
n.764A>C
c.288A>C (p.Val96=)
n.891A>C
n.705A>C
c.117A>C (p.Val39=)
n.678A>C
n.490A>C
n.670A>C
n.1205A>C
n.778A>C
n.861A>C
n.710A>C
1g.45332462T=CA2473712741MUTYHc.643A= (p.Ser215=)
c.633A= (p.Val211=)
c.*372A= (p.=)
c.1221A= (p.Val407=)
c.601A= (p.Ser201=)
c.*606A= (p.=)
c.592A= (p.Ser198=)
c.708A= (p.Val236=)
c.*330A= (p.=)
n.661A= (p.=)
c.636A= (p.Val212=)
c.678A= (p.Val226=)
c.675A= (p.Val225=)
c.249A= (p.Val83=)
c.666A= (p.Val222=)
c.717A= (p.Val239=)
n.324A=
n.27A= (p.Val9=)
c.*556A= (p.=)
c.520A= (p.Ser174=)
c.*446A= (p.=)
n.620A=
c.187+301A= (p.=)
c.*284A= (p.=)
c.115+1929A= (p.=)
n.262A= (p.Ser88=)
c.357A= (p.Val119=)
c.693A= (p.Val231=)
c.255A= (p.Val85=)
c.246A= (p.Val82=)
c.261A= (p.Val87=)
n.764A=
c.288A= (p.Val96=)
n.891A=
n.705A=
c.117A= (p.Val39=)
n.678A=
n.490A=
n.670A=
n.1205A=
n.778A=
n.861A=
n.710A=
1g.45332463A>CCA340134875MUTYHc.642T>G (p.Arg214=)
c.632T>G (p.Val211Gly)
c.*371T>G (p.=)
c.1220T>G (p.Val407Gly)
c.600T>G (p.Arg200=)
c.*605T>G (p.=)
c.591T>G (p.Arg197=)
c.707T>G (p.Val236Gly)
c.*329T>G (p.=)
n.660T>G (p.=)
c.635T>G (p.Val212Gly)
c.677T>G (p.Val226Gly)
c.674T>G (p.Val225Gly)
c.248T>G (p.Val83Gly)
c.665T>G (p.Val222Gly)
c.716T>G (p.Val239Gly)
n.323T>G
n.26T>G (p.Val9Gly)
c.*555T>G (p.=)
c.519T>G (p.Arg173=)
c.*445T>G (p.=)
n.619T>G
c.187+300T>G (p.=)
c.*283T>G (p.=)
c.115+1928T>G (p.=)
n.261T>G (p.Arg87=)
c.356T>G (p.Val119Gly)
c.692T>G (p.Val231Gly)
c.254T>G (p.Val85Gly)
c.245T>G (p.Val82Gly)
c.260T>G (p.Val87Gly)
n.763T>G
c.287T>G (p.Val96Gly)
n.890T>G
n.704T>G
c.116T>G (p.Val39Gly)
n.677T>G
n.489T>G
n.669T>G
n.1204T>G
n.777T>G
n.860T>G
n.709T>G
1g.45332463A>GCA340134877MUTYHc.642T>C (p.Arg214=)
c.632T>C (p.Val211Ala)
c.*371T>C (p.=)
c.1220T>C (p.Val407Ala)
c.600T>C (p.Arg200=)
c.*605T>C (p.=)
c.591T>C (p.Arg197=)
c.707T>C (p.Val236Ala)
c.*329T>C (p.=)
n.660T>C (p.=)
c.635T>C (p.Val212Ala)
c.677T>C (p.Val226Ala)
c.674T>C (p.Val225Ala)
c.248T>C (p.Val83Ala)
c.665T>C (p.Val222Ala)
c.716T>C (p.Val239Ala)
n.323T>C
n.26T>C (p.Val9Ala)
c.*555T>C (p.=)
c.519T>C (p.Arg173=)
c.*445T>C (p.=)
n.619T>C
c.187+300T>C (p.=)
c.*283T>C (p.=)
c.115+1928T>C (p.=)
n.261T>C (p.Arg87=)
c.356T>C (p.Val119Ala)
c.692T>C (p.Val231Ala)
c.254T>C (p.Val85Ala)
c.245T>C (p.Val82Ala)
c.260T>C (p.Val87Ala)
n.763T>C
c.287T>C (p.Val96Ala)
n.890T>C
n.704T>C
c.116T>C (p.Val39Ala)
n.677T>C
n.489T>C
n.669T>C
n.1204T>C
n.777T>C
n.860T>C
n.709T>C
1g.45332463A>TCA340134879MUTYHc.642T>A (p.Arg214=)
c.632T>A (p.Val211Glu)
c.*371T>A (p.=)
c.1220T>A (p.Val407Glu)
c.600T>A (p.Arg200=)
c.*605T>A (p.=)
c.591T>A (p.Arg197=)
c.707T>A (p.Val236Glu)
c.*329T>A (p.=)
n.660T>A (p.=)
c.635T>A (p.Val212Glu)
c.677T>A (p.Val226Glu)
c.674T>A (p.Val225Glu)
c.248T>A (p.Val83Glu)
c.665T>A (p.Val222Glu)
c.716T>A (p.Val239Glu)
n.323T>A
n.26T>A (p.Val9Glu)
c.*555T>A (p.=)
c.519T>A (p.Arg173=)
c.*445T>A (p.=)
n.619T>A
c.187+300T>A (p.=)
c.*283T>A (p.=)
c.115+1928T>A (p.=)
n.261T>A (p.Arg87=)
c.356T>A (p.Val119Glu)
c.692T>A (p.Val231Glu)
c.254T>A (p.Val85Glu)
c.245T>A (p.Val82Glu)
c.260T>A (p.Val87Glu)
n.763T>A
c.287T>A (p.Val96Glu)
n.890T>A
n.704T>A
c.116T>A (p.Val39Glu)
n.677T>A
n.489T>A
n.669T>A
n.1204T>A
n.777T>A
n.860T>A
n.709T>A
1g.45332464C>ACA340134880MUTYHc.641G>T (p.Arg214Leu)
c.631G>T (p.Val211Leu)
c.*370G>T (p.=)
c.1219G>T (p.Val407Leu)
c.599G>T (p.Arg200Leu)
c.*604G>T (p.=)
c.590G>T (p.Arg197Leu)
c.706G>T (p.Val236Leu)
c.*328G>T (p.=)
n.659G>T (p.=)
c.634G>T (p.Val212Leu)
c.676G>T (p.Val226Leu)
c.673G>T (p.Val225Leu)
c.247G>T (p.Val83Leu)
c.664G>T (p.Val222Leu)
c.715G>T (p.Val239Leu)
n.322G>T
n.25G>T (p.Val9Leu)
c.*554G>T (p.=)
c.518G>T (p.Arg173Leu)
c.*444G>T (p.=)
n.618G>T
c.187+299G>T (p.=)
c.*282G>T (p.=)
c.115+1927G>T (p.=)
n.260G>T (p.Arg87Leu)
c.355G>T (p.Val119Leu)
c.691G>T (p.Val231Leu)
c.253G>T (p.Val85Leu)
c.244G>T (p.Val82Leu)
c.259G>T (p.Val87Leu)
n.762G>T
c.286G>T (p.Val96Leu)
n.889G>T
n.703G>T
c.115G>T (p.Val39Leu)
n.676G>T
n.488G>T
n.668G>T
n.1203G>T
n.776G>T
n.859G>T
n.708G>T
1g.45332464C=CA2473712742MUTYHc.641G= (p.Arg214=)
c.631G= (p.Val211=)
c.*370G= (p.=)
c.1219G= (p.Val407=)
c.599G= (p.Arg200=)
c.*604G= (p.=)
c.590G= (p.Arg197=)
c.706G= (p.Val236=)
c.*328G= (p.=)
n.659G= (p.=)
c.634G= (p.Val212=)
c.676G= (p.Val226=)
c.673G= (p.Val225=)
c.247G= (p.Val83=)
c.664G= (p.Val222=)
c.715G= (p.Val239=)
n.322G=
n.25G= (p.Val9=)
c.*554G= (p.=)
c.518G= (p.Arg173=)
c.*444G= (p.=)
n.618G=
c.187+299G= (p.=)
c.*282G= (p.=)
c.115+1927G= (p.=)
n.260G= (p.Arg87=)
c.355G= (p.Val119=)
c.691G= (p.Val231=)
c.253G= (p.Val85=)
c.244G= (p.Val82=)
c.259G= (p.Val87=)
n.762G=
c.286G= (p.Val96=)
n.889G=
n.703G=
c.115G= (p.Val39=)
n.676G=
n.488G=
n.668G=
n.1203G=
n.776G=
n.859G=
n.708G=
1g.45332464C>GCA340134881MUTYHc.641G>C (p.Arg214Pro)
c.631G>C (p.Val211Leu)
c.*370G>C (p.=)
c.1219G>C (p.Val407Leu)
c.599G>C (p.Arg200Pro)
c.*604G>C (p.=)
c.590G>C (p.Arg197Pro)
c.706G>C (p.Val236Leu)
c.*328G>C (p.=)
n.659G>C (p.=)
c.634G>C (p.Val212Leu)
c.676G>C (p.Val226Leu)
c.673G>C (p.Val225Leu)
c.247G>C (p.Val83Leu)
c.664G>C (p.Val222Leu)
c.715G>C (p.Val239Leu)
n.322G>C
n.25G>C (p.Val9Leu)
c.*554G>C (p.=)
c.518G>C (p.Arg173Pro)
c.*444G>C (p.=)
n.618G>C
c.187+299G>C (p.=)
c.*282G>C (p.=)
c.115+1927G>C (p.=)
n.260G>C (p.Arg87Pro)
c.355G>C (p.Val119Leu)
c.691G>C (p.Val231Leu)
c.253G>C (p.Val85Leu)
c.244G>C (p.Val82Leu)
c.259G>C (p.Val87Leu)
n.762G>C
c.286G>C (p.Val96Leu)
n.889G>C
n.703G>C
c.115G>C (p.Val39Leu)
n.676G>C
n.488G>C
n.668G>C
n.1203G>C
n.776G>C
n.859G>C
n.708G>C
ClinVar
1g.45332464C>TCA014175MUTYHc.641G>A (p.Arg214His)
c.631G>A (p.Val211Ile)
c.*370G>A (p.=)
c.1219G>A (p.Val407Ile)
c.599G>A (p.Arg200His)
c.*604G>A (p.=)
c.590G>A (p.Arg197His)
c.706G>A (p.Val236Ile)
c.*328G>A (p.=)
n.659G>A (p.=)
c.634G>A (p.Val212Ile)
c.676G>A (p.Val226Ile)
c.673G>A (p.Val225Ile)
c.247G>A (p.Val83Ile)
c.664G>A (p.Val222Ile)
c.715G>A (p.Val239Ile)
n.322G>A
n.25G>A (p.Val9Ile)
c.*554G>A (p.=)
c.518G>A (p.Arg173His)
c.*444G>A (p.=)
n.618G>A
c.187+299G>A (p.=)
c.*282G>A (p.=)
c.115+1927G>A (p.=)
n.260G>A (p.Arg87His)
c.355G>A (p.Val119Ile)
c.691G>A (p.Val231Ile)
c.253G>A (p.Val85Ile)
c.244G>A (p.Val82Ile)
c.259G>A (p.Val87Ile)
n.762G>A
c.286G>A (p.Val96Ile)
n.889G>A
n.703G>A
c.115G>A (p.Val39Ile)
n.676G>A
n.488G>A
n.668G>A
n.1203G>A
n.776G>A
n.859G>A
n.708G>A
ClinVar dbSNP ExAC gnomAD
1g.45332465G>ACA014164MUTYHc.640C>T (p.Arg214Cys)
c.630C>T (p.Asn210=)
c.*369C>T (p.=)
c.1218C>T (p.Asn406=)
c.598C>T (p.Arg200Cys)
c.*603C>T (p.=)
c.589C>T (p.Arg197Cys)
c.705C>T (p.Asn235=)
c.*327C>T (p.=)
n.658C>T (p.=)
c.633C>T (p.Asn211=)
c.675C>T (p.Asn225=)
c.672C>T (p.Asn224=)
c.246C>T (p.Asn82=)
c.663C>T (p.Asn221=)
c.714C>T (p.Asn238=)
n.321C>T
n.24C>T (p.Asn8=)
c.*553C>T (p.=)
c.517C>T (p.Arg173Cys)
c.*443C>T (p.=)
n.617C>T
c.187+298C>T (p.=)
c.*281C>T (p.=)
c.115+1926C>T (p.=)
n.259C>T (p.Arg87Cys)
c.354C>T (p.Asn118=)
c.690C>T (p.Asn230=)
c.252C>T (p.Asn84=)
c.243C>T (p.Asn81=)
c.258C>T (p.Asn86=)
n.761C>T
c.285C>T (p.Asn95=)
n.888C>T
n.702C>T
c.114C>T (p.Asn38=)
n.675C>T
n.487C>T
n.667C>T
n.1202C>T
n.775C>T
n.858C>T
n.707C>T
ClinVar dbSNP ExAC gnomAD
1g.45332465G>CCA340134883MUTYHc.640C>G (p.Arg214Gly)
c.630C>G (p.Asn210Lys)
c.*369C>G (p.=)
c.1218C>G (p.Asn406Lys)
c.598C>G (p.Arg200Gly)
c.*603C>G (p.=)
c.589C>G (p.Arg197Gly)
c.705C>G (p.Asn235Lys)
c.*327C>G (p.=)
n.658C>G (p.=)
c.633C>G (p.Asn211Lys)
c.675C>G (p.Asn225Lys)
c.672C>G (p.Asn224Lys)
c.246C>G (p.Asn82Lys)
c.663C>G (p.Asn221Lys)
c.714C>G (p.Asn238Lys)
n.321C>G
n.24C>G (p.Asn8Lys)
c.*553C>G (p.=)
c.517C>G (p.Arg173Gly)
c.*443C>G (p.=)
n.617C>G
c.187+298C>G (p.=)
c.*281C>G (p.=)
c.115+1926C>G (p.=)
n.259C>G (p.Arg87Gly)
c.354C>G (p.Asn118Lys)
c.690C>G (p.Asn230Lys)
c.252C>G (p.Asn84Lys)
c.243C>G (p.Asn81Lys)
c.258C>G (p.Asn86Lys)
n.761C>G
c.285C>G (p.Asn95Lys)
n.888C>G
n.702C>G
c.114C>G (p.Asn38Lys)
n.675C>G
n.487C>G
n.667C>G
n.1202C>G
n.775C>G
n.858C>G
n.707C>G
1g.45332465G=CA2473712743MUTYHc.640C= (p.Arg214=)
c.630C= (p.Asn210=)
c.*369C= (p.=)
c.1218C= (p.Asn406=)
c.598C= (p.Arg200=)
c.*603C= (p.=)
c.589C= (p.Arg197=)
c.705C= (p.Asn235=)
c.*327C= (p.=)
n.658C= (p.=)
c.633C= (p.Asn211=)
c.675C= (p.Asn225=)
c.672C= (p.Asn224=)
c.246C= (p.Asn82=)
c.663C= (p.Asn221=)
c.714C= (p.Asn238=)
n.321C=
n.24C= (p.Asn8=)
c.*553C= (p.=)
c.517C= (p.Arg173=)
c.*443C= (p.=)
n.617C=
c.187+298C= (p.=)
c.*281C= (p.=)
c.115+1926C= (p.=)
n.259C= (p.Arg87=)
c.354C= (p.Asn118=)
c.690C= (p.Asn230=)
c.252C= (p.Asn84=)
c.243C= (p.Asn81=)
c.258C= (p.Asn86=)
n.761C=
c.285C= (p.Asn95=)
n.888C=
n.702C=
c.114C= (p.Asn38=)
n.675C=
n.487C=
n.667C=
n.1202C=
n.775C=
n.858C=
n.707C=
1g.45332465G>TCA340134885MUTYHc.640C>A (p.Arg214Ser)
c.630C>A (p.Asn210Lys)
c.*369C>A (p.=)
c.1218C>A (p.Asn406Lys)
c.598C>A (p.Arg200Ser)
c.*603C>A (p.=)
c.589C>A (p.Arg197Ser)
c.705C>A (p.Asn235Lys)
c.*327C>A (p.=)
n.658C>A (p.=)
c.633C>A (p.Asn211Lys)
c.675C>A (p.Asn225Lys)
c.672C>A (p.Asn224Lys)
c.246C>A (p.Asn82Lys)
c.663C>A (p.Asn221Lys)
c.714C>A (p.Asn238Lys)
n.321C>A
n.24C>A (p.Asn8Lys)
c.*553C>A (p.=)
c.517C>A (p.Arg173Ser)
c.*443C>A (p.=)
n.617C>A
c.187+298C>A (p.=)
c.*281C>A (p.=)
c.115+1926C>A (p.=)
n.259C>A (p.Arg87Ser)
c.354C>A (p.Asn118Lys)
c.690C>A (p.Asn230Lys)
c.252C>A (p.Asn84Lys)
c.243C>A (p.Asn81Lys)
c.258C>A (p.Asn86Lys)
n.761C>A
c.285C>A (p.Asn95Lys)
n.888C>A
n.702C>A
c.114C>A (p.Asn38Lys)
n.675C>A
n.487C>A
n.667C>A
n.1202C>A
n.775C>A
n.858C>A
n.707C>A
1g.45332466T>ACA340134886MUTYHc.639A>T (p.Gln213His)
c.629A>T (p.Asn210Ile)
c.*368A>T (p.=)
c.1217A>T (p.Asn406Ile)
c.597A>T (p.Gln199His)
c.*602A>T (p.=)
c.588A>T (p.Gln196His)
c.704A>T (p.Asn235Ile)
c.*326A>T (p.=)
n.657A>T (p.=)
c.632A>T (p.Asn211Ile)
c.674A>T (p.Asn225Ile)
c.671A>T (p.Asn224Ile)
c.245A>T (p.Asn82Ile)
c.662A>T (p.Asn221Ile)
c.713A>T (p.Asn238Ile)
n.320A>T
n.23A>T (p.Asn8Ile)
c.*552A>T (p.=)
c.516A>T (p.Gln172His)
c.*442A>T (p.=)
n.616A>T
c.187+297A>T (p.=)
c.*280A>T (p.=)
c.115+1925A>T (p.=)
n.258A>T (p.Gln86His)
c.353A>T (p.Asn118Ile)
c.689A>T (p.Asn230Ile)
c.251A>T (p.Asn84Ile)
c.242A>T (p.Asn81Ile)
c.257A>T (p.Asn86Ile)
n.760A>T
c.284A>T (p.Asn95Ile)
n.887A>T
n.701A>T
c.113A>T (p.Asn38Ile)
n.674A>T
n.486A>T
n.666A>T
n.1201A>T
n.774A>T
n.857A>T
n.706A>T
1g.45332466T>CCA16042398MUTYHc.639A>G (p.Gln213=)
c.629A>G (p.Asn210Ser)
c.*368A>G (p.=)
c.1217A>G (p.Asn406Ser)
c.597A>G (p.Gln199=)
c.*602A>G (p.=)
c.588A>G (p.Gln196=)
c.704A>G (p.Asn235Ser)
c.*326A>G (p.=)
n.657A>G (p.=)
c.632A>G (p.Asn211Ser)
c.674A>G (p.Asn225Ser)
c.671A>G (p.Asn224Ser)
c.245A>G (p.Asn82Ser)
c.662A>G (p.Asn221Ser)
c.713A>G (p.Asn238Ser)
n.320A>G
n.23A>G (p.Asn8Ser)
c.*552A>G (p.=)
c.516A>G (p.Gln172=)
c.*442A>G (p.=)
n.616A>G
c.187+297A>G (p.=)
c.*280A>G (p.=)
c.115+1925A>G (p.=)
n.258A>G (p.Gln86=)
c.353A>G (p.Asn118Ser)
c.689A>G (p.Asn230Ser)
c.251A>G (p.Asn84Ser)
c.242A>G (p.Asn81Ser)
c.257A>G (p.Asn86Ser)
n.760A>G
c.284A>G (p.Asn95Ser)
n.887A>G
n.701A>G
c.113A>G (p.Asn38Ser)
n.674A>G
n.486A>G
n.666A>G
n.1201A>G
n.774A>G
n.857A>G
n.706A>G
ClinVar dbSNP
1g.45332466T>GCA16617163MUTYHc.639A>C (p.Gln213His)
c.629A>C (p.Asn210Thr)
c.*368A>C (p.=)
c.1217A>C (p.Asn406Thr)
c.597A>C (p.Gln199His)
c.*602A>C (p.=)
c.588A>C (p.Gln196His)
c.704A>C (p.Asn235Thr)
c.*326A>C (p.=)
n.657A>C (p.=)
c.632A>C (p.Asn211Thr)
c.674A>C (p.Asn225Thr)
c.671A>C (p.Asn224Thr)
c.245A>C (p.Asn82Thr)
c.662A>C (p.Asn221Thr)
c.713A>C (p.Asn238Thr)
n.320A>C
n.23A>C (p.Asn8Thr)
c.*552A>C (p.=)
c.516A>C (p.Gln172His)
c.*442A>C (p.=)
n.616A>C
c.187+297A>C (p.=)
c.*280A>C (p.=)
c.115+1925A>C (p.=)
n.258A>C (p.Gln86His)
c.353A>C (p.Asn118Thr)
c.689A>C (p.Asn230Thr)
c.251A>C (p.Asn84Thr)
c.242A>C (p.Asn81Thr)
c.257A>C (p.Asn86Thr)
n.760A>C
c.284A>C (p.Asn95Thr)
n.887A>C
n.701A>C
c.113A>C (p.Asn38Thr)
n.674A>C
n.486A>C
n.666A>C
n.1201A>C
n.774A>C
n.857A>C
n.706A>C
ClinVar
1g.45332466T=CA2473712744MUTYHc.639A= (p.Gln213=)
c.629A= (p.Asn210=)
c.*368A= (p.=)
c.1217A= (p.Asn406=)
c.597A= (p.Gln199=)
c.*602A= (p.=)
c.588A= (p.Gln196=)
c.704A= (p.Asn235=)
c.*326A= (p.=)
n.657A= (p.=)
c.632A= (p.Asn211=)
c.674A= (p.Asn225=)
c.671A= (p.Asn224=)
c.245A= (p.Asn82=)
c.662A= (p.Asn221=)
c.713A= (p.Asn238=)
n.320A=
n.23A= (p.Asn8=)
c.*552A= (p.=)
c.516A= (p.Gln172=)
c.*442A= (p.=)
n.616A=
c.187+297A= (p.=)
c.*280A= (p.=)
c.115+1925A= (p.=)
n.258A= (p.Gln86=)
c.353A= (p.Asn118=)
c.689A= (p.Asn230=)
c.251A= (p.Asn84=)
c.242A= (p.Asn81=)
c.257A= (p.Asn86=)
n.760A=
c.284A= (p.Asn95=)
n.887A=
n.701A=
c.113A= (p.Asn38=)
n.674A=
n.486A=
n.666A=
n.1201A=
n.774A=
n.857A=
n.706A=
1g.45332467T>ACA340134890MUTYHc.638A>T (p.Gln213Leu)
c.628A>T (p.Asn210Tyr)
c.*367A>T (p.=)
c.1216A>T (p.Asn406Tyr)
c.596A>T (p.Gln199Leu)
c.*601A>T (p.=)
c.587A>T (p.Gln196Leu)
c.703A>T (p.Asn235Tyr)
c.*325A>T (p.=)
n.656A>T (p.=)
c.631A>T (p.Asn211Tyr)
c.673A>T (p.Asn225Tyr)
c.670A>T (p.Asn224Tyr)
c.244A>T (p.Asn82Tyr)
c.661A>T (p.Asn221Tyr)
c.712A>T (p.Asn238Tyr)
n.319A>T
n.22A>T (p.Asn8Tyr)
c.*551A>T (p.=)
c.515A>T (p.Gln172Leu)
c.*441A>T (p.=)
n.615A>T
c.187+296A>T (p.=)
c.*279A>T (p.=)
c.115+1924A>T (p.=)
n.257A>T (p.Gln86Leu)
c.352A>T (p.Asn118Tyr)
c.688A>T (p.Asn230Tyr)
c.250A>T (p.Asn84Tyr)
c.241A>T (p.Asn81Tyr)
c.256A>T (p.Asn86Tyr)
n.759A>T
c.283A>T (p.Asn95Tyr)
n.886A>T
n.700A>T
c.112A>T (p.Asn38Tyr)
n.673A>T
n.485A>T
n.665A>T
n.1200A>T
n.773A>T
n.856A>T
n.705A>T
1g.45332467T>CCA340134891MUTYHc.638A>G (p.Gln213Arg)
c.628A>G (p.Asn210Asp)
c.*367A>G (p.=)
c.1216A>G (p.Asn406Asp)
c.596A>G (p.Gln199Arg)
c.*601A>G (p.=)
c.587A>G (p.Gln196Arg)
c.703A>G (p.Asn235Asp)
c.*325A>G (p.=)
n.656A>G (p.=)
c.631A>G (p.Asn211Asp)
c.673A>G (p.Asn225Asp)
c.670A>G (p.Asn224Asp)
c.244A>G (p.Asn82Asp)
c.661A>G (p.Asn221Asp)
c.712A>G (p.Asn238Asp)
n.319A>G
n.22A>G (p.Asn8Asp)
c.*551A>G (p.=)
c.515A>G (p.Gln172Arg)
c.*441A>G (p.=)
n.615A>G
c.187+296A>G (p.=)
c.*279A>G (p.=)
c.115+1924A>G (p.=)
n.257A>G (p.Gln86Arg)
c.352A>G (p.Asn118Asp)
c.688A>G (p.Asn230Asp)
c.250A>G (p.Asn84Asp)
c.241A>G (p.Asn81Asp)
c.256A>G (p.Asn86Asp)
n.759A>G
c.283A>G (p.Asn95Asp)
n.886A>G
n.700A>G
c.112A>G (p.Asn38Asp)
n.673A>G
n.485A>G
n.665A>G
n.1200A>G
n.773A>G
n.856A>G
n.705A>G
1g.45332467T>GCA340134889MUTYHc.638A>C (p.Gln213Pro)
c.628A>C (p.Asn210His)
c.*367A>C (p.=)
c.1216A>C (p.Asn406His)
c.596A>C (p.Gln199Pro)
c.*601A>C (p.=)
c.587A>C (p.Gln196Pro)
c.703A>C (p.Asn235His)
c.*325A>C (p.=)
n.656A>C (p.=)
c.631A>C (p.Asn211His)
c.673A>C (p.Asn225His)
c.670A>C (p.Asn224His)
c.244A>C (p.Asn82His)
c.661A>C (p.Asn221His)
c.712A>C (p.Asn238His)
n.319A>C
n.22A>C (p.Asn8His)
c.*551A>C (p.=)
c.515A>C (p.Gln172Pro)
c.*441A>C (p.=)
n.615A>C
c.187+296A>C (p.=)
c.*279A>C (p.=)
c.115+1924A>C (p.=)
n.257A>C (p.Gln86Pro)
c.352A>C (p.Asn118His)
c.688A>C (p.Asn230His)
c.250A>C (p.Asn84His)
c.241A>C (p.Asn81His)
c.256A>C (p.Asn86His)
n.759A>C
c.283A>C (p.Asn95His)
n.886A>C
n.700A>C
c.112A>C (p.Asn38His)
n.673A>C
n.485A>C
n.665A>C
n.1200A>C
n.773A>C
n.856A>C
n.705A>C
1g.45332467_45332468delinsTGCA2473712745MUTYHc.637_638delinsCA (p.Gln213=)
c.627_628delinsCA (p.Gly209=)
c.*366_*367delinsCA (p.=)
c.1215_1216delinsCA (p.Gly405=)
c.595_596delinsCA (p.Gln199=)
c.*600_*601delinsCA (p.=)
c.586_587delinsCA (p.Gln196=)
c.702_703delinsCA (p.Gly234=)
c.*324_*325delinsCA (p.=)
n.655_656delinsCA (p.=)
c.630_631delinsCA (p.Gly210=)
c.672_673delinsCA (p.Gly224=)
c.669_670delinsCA (p.Gly223=)
c.243_244delinsCA (p.Gly81=)
c.660_661delinsCA (p.Gly220=)
c.711_712delinsCA (p.Gly237=)
n.318_319delinsCA
n.21_22delinsCA (p.Gly7=)
c.*550_*551delinsCA (p.=)
c.514_515delinsCA (p.Gln172=)
c.*440_*441delinsCA (p.=)
n.614_615delinsCA
c.187+295_187+296delinsCA (p.=)
c.*278_*279delinsCA (p.=)
c.115+1923_115+1924delinsCA (p.=)
n.256_257delinsCA (p.Gln86=)
c.351_352delinsCA (p.Gly117=)
c.687_688delinsCA (p.Gly229=)
c.249_250delinsCA (p.Gly83=)
c.240_241delinsCA (p.Gly80=)
c.255_256delinsCA (p.Gly85=)
n.758_759delinsCA
c.282_283delinsCA (p.Gly94=)
n.885_886delinsCA
n.699_700delinsCA
c.111_112delinsCA (p.Gly37=)
n.672_673delinsCA
n.484_485delinsCA
n.664_665delinsCA
n.1199_1200delinsCA
n.772_773delinsCA
n.855_856delinsCA
n.704_705delinsCA
1g.45332468delCA2473712746MUTYHc.637del (p.Gln213AsnfsTer?)
c.627del (p.Asn210ThrfsTer2)
c.*366del (p.=)
c.1215del (p.Asn406ThrfsTer2)
c.595del (p.Gln199AsnfsTer?)
c.*600del (p.=)
c.586del (p.Gln196AsnfsTer?)
c.702del (p.Asn235ThrfsTer2)
c.*324del (p.=)
n.655del (p.=)
c.630del (p.Asn211ThrfsTer2)
c.672del (p.Asn225ThrfsTer2)
c.669del (p.Asn224ThrfsTer2)
c.243del (p.Asn82ThrfsTer2)
c.660del (p.Asn221ThrfsTer2)
c.711del (p.Asn238ThrfsTer2)
n.318del
n.21del (p.Asn8ThrfsTer2)
c.*550del (p.=)
c.514del (p.Gln172AsnfsTer?)
c.*440del (p.=)
n.614del
c.187+295del (p.=)
c.*278del (p.=)
c.115+1923del (p.=)
n.256del (p.Gln86AsnfsTer?)
c.351del (p.Asn118ThrfsTer2)
c.687del (p.Asn230ThrfsTer2)
c.249del (p.Asn84ThrfsTer2)
c.240del (p.Asn81ThrfsTer2)
c.255del (p.Asn86ThrfsTer2)
n.758del
c.282del (p.Asn95ThrfsTer2)
n.885del
n.699del
c.111del (p.Asn38ThrfsTer2)
n.672del
n.484del
n.664del
n.1199del
n.772del
n.855del
n.704del
dbSNP
1g.45332468G>ACA417880269MUTYHc.637C>T (p.Gln213Ter)
c.627C>T (p.Gly209=)
c.*366C>T (p.=)
c.1215C>T (p.Gly405=)
c.595C>T (p.Gln199Ter)
c.*600C>T (p.=)
c.586C>T (p.Gln196Ter)
c.702C>T (p.Gly234=)
c.*324C>T (p.=)
n.655C>T (p.=)
c.630C>T (p.Gly210=)
c.672C>T (p.Gly224=)
c.669C>T (p.Gly223=)
c.243C>T (p.Gly81=)
c.660C>T (p.Gly220=)
c.711C>T (p.Gly237=)
n.318C>T
n.21C>T (p.Gly7=)
c.*550C>T (p.=)
c.514C>T (p.Gln172Ter)
c.*440C>T (p.=)
n.614C>T
c.187+295C>T (p.=)
c.*278C>T (p.=)
c.115+1923C>T (p.=)
n.256C>T (p.Gln86Ter)
c.351C>T (p.Gly117=)
c.687C>T (p.Gly229=)
c.249C>T (p.Gly83=)
c.240C>T (p.Gly80=)
c.255C>T (p.Gly85=)
n.758C>T
c.282C>T (p.Gly94=)
n.885C>T
n.699C>T
c.111C>T (p.Gly37=)
n.672C>T
n.484C>T
n.664C>T
n.1199C>T
n.772C>T
n.855C>T
n.704C>T
1g.45332468G>CCA417880268MUTYHc.637C>G (p.Gln213Glu)
c.627C>G (p.Gly209=)
c.*366C>G (p.=)
c.1215C>G (p.Gly405=)
c.595C>G (p.Gln199Glu)
c.*600C>G (p.=)
c.586C>G (p.Gln196Glu)
c.702C>G (p.Gly234=)
c.*324C>G (p.=)
n.655C>G (p.=)
c.630C>G (p.Gly210=)
c.672C>G (p.Gly224=)
c.669C>G (p.Gly223=)
c.243C>G (p.Gly81=)
c.660C>G (p.Gly220=)
c.711C>G (p.Gly237=)
n.318C>G
n.21C>G (p.Gly7=)
c.*550C>G (p.=)
c.514C>G (p.Gln172Glu)
c.*440C>G (p.=)
n.614C>G
c.187+295C>G (p.=)
c.*278C>G (p.=)
c.115+1923C>G (p.=)
n.256C>G (p.Gln86Glu)
c.351C>G (p.Gly117=)
c.687C>G (p.Gly229=)
c.249C>G (p.Gly83=)
c.240C>G (p.Gly80=)
c.255C>G (p.Gly85=)
n.758C>G
c.282C>G (p.Gly94=)
n.885C>G
n.699C>G
c.111C>G (p.Gly37=)
n.672C>G
n.484C>G
n.664C>G
n.1199C>G
n.772C>G
n.855C>G
n.704C>G
1g.45332468G>TCA417880267MUTYHc.637C>A (p.Gln213Lys)
c.627C>A (p.Gly209=)
c.*366C>A (p.=)
c.1215C>A (p.Gly405=)
c.595C>A (p.Gln199Lys)
c.*600C>A (p.=)
c.586C>A (p.Gln196Lys)
c.702C>A (p.Gly234=)
c.*324C>A (p.=)
n.655C>A (p.=)
c.630C>A (p.Gly210=)
c.672C>A (p.Gly224=)
c.669C>A (p.Gly223=)
c.243C>A (p.Gly81=)
c.660C>A (p.Gly220=)
c.711C>A (p.Gly237=)
n.318C>A
n.21C>A (p.Gly7=)
c.*550C>A (p.=)
c.514C>A (p.Gln172Lys)
c.*440C>A (p.=)
n.614C>A
c.187+295C>A (p.=)
c.*278C>A (p.=)
c.115+1923C>A (p.=)
n.256C>A (p.Gln86Lys)
c.351C>A (p.Gly117=)
c.687C>A (p.Gly229=)
c.249C>A (p.Gly83=)
c.240C>A (p.Gly80=)
c.255C>A (p.Gly85=)
n.758C>A
c.282C>A (p.Gly94=)
n.885C>A
n.699C>A
c.111C>A (p.Gly37=)
n.672C>A
n.484C>A
n.664C>A
n.1199C>A
n.772C>A
n.855C>A
n.704C>A
1g.45332469C>ACA340134893MUTYHc.636G>T (p.Trp212Cys)
c.626G>T (p.Gly209Val)
c.*365G>T (p.=)
c.1214G>T (p.Gly405Val)
c.594G>T (p.Trp198Cys)
c.*599G>T (p.=)
c.585G>T (p.Trp195Cys)
c.701G>T (p.Gly234Val)
c.*323G>T (p.=)
n.654G>T (p.=)
c.629G>T (p.Gly210Val)
c.671G>T (p.Gly224Val)
c.668G>T (p.Gly223Val)
c.242G>T (p.Gly81Val)
c.659G>T (p.Gly220Val)
c.710G>T (p.Gly237Val)
n.317G>T
n.20G>T (p.Gly7Val)
c.*549G>T (p.=)
c.513G>T (p.Trp171Cys)
c.*439G>T (p.=)
n.613G>T
c.187+294G>T (p.=)
c.*277G>T (p.=)
c.115+1922G>T (p.=)
n.255G>T (p.Trp85Cys)
c.350G>T (p.Gly117Val)
c.686G>T (p.Gly229Val)
c.248G>T (p.Gly83Val)
c.239G>T (p.Gly80Val)
c.254G>T (p.Gly85Val)
n.757G>T
c.281G>T (p.Gly94Val)
n.884G>T
n.698G>T
c.110G>T (p.Gly37Val)
n.671G>T
n.483G>T
n.663G>T
n.1198G>T
n.771G>T
n.854G>T
n.703G>T
1g.45332469C=CA2473712747MUTYHc.636G= (p.Trp212=)
c.626G= (p.Gly209=)
c.*365G= (p.=)
c.1214G= (p.Gly405=)
c.594G= (p.Trp198=)
c.*599G= (p.=)
c.585G= (p.Trp195=)
c.701G= (p.Gly234=)
c.*323G= (p.=)
n.654G= (p.=)
c.629G= (p.Gly210=)
c.671G= (p.Gly224=)
c.668G= (p.Gly223=)
c.242G= (p.Gly81=)
c.659G= (p.Gly220=)
c.710G= (p.Gly237=)
n.317G=
n.20G= (p.Gly7=)
c.*549G= (p.=)
c.513G= (p.Trp171=)
c.*439G= (p.=)
n.613G=
c.187+294G= (p.=)
c.*277G= (p.=)
c.115+1922G= (p.=)
n.255G= (p.Trp85=)
c.350G= (p.Gly117=)
c.686G= (p.Gly229=)
c.248G= (p.Gly83=)
c.239G= (p.Gly80=)
c.254G= (p.Gly85=)
n.757G=
c.281G= (p.Gly94=)
n.884G=
n.698G=
c.110G= (p.Gly37=)
n.671G=
n.483G=
n.663G=
n.1198G=
n.771G=
n.854G=
n.703G=
1g.45332469C>GCA340134897MUTYHc.636G>C (p.Trp212Cys)
c.626G>C (p.Gly209Ala)
c.*365G>C (p.=)
c.1214G>C (p.Gly405Ala)
c.594G>C (p.Trp198Cys)
c.*599G>C (p.=)
c.585G>C (p.Trp195Cys)
c.701G>C (p.Gly234Ala)
c.*323G>C (p.=)
n.654G>C (p.=)
c.629G>C (p.Gly210Ala)
c.671G>C (p.Gly224Ala)
c.668G>C (p.Gly223Ala)
c.242G>C (p.Gly81Ala)
c.659G>C (p.Gly220Ala)
c.710G>C (p.Gly237Ala)
n.317G>C
n.20G>C (p.Gly7Ala)
c.*549G>C (p.=)
c.513G>C (p.Trp171Cys)
c.*439G>C (p.=)
n.613G>C
c.187+294G>C (p.=)
c.*277G>C (p.=)
c.115+1922G>C (p.=)
n.255G>C (p.Trp85Cys)
c.350G>C (p.Gly117Ala)
c.686G>C (p.Gly229Ala)
c.248G>C (p.Gly83Ala)
c.239G>C (p.Gly80Ala)
c.254G>C (p.Gly85Ala)
n.757G>C
c.281G>C (p.Gly94Ala)
n.884G>C
n.698G>C
c.110G>C (p.Gly37Ala)
n.671G>C
n.483G>C
n.663G>C
n.1198G>C
n.771G>C
n.854G>C
n.703G>C
1g.45332469C>TCA340134895MUTYHc.636G>A (p.Trp212Ter)
c.626G>A (p.Gly209Asp)
c.*365G>A (p.=)
c.1214G>A (p.Gly405Asp)
c.594G>A (p.Trp198Ter)
c.*599G>A (p.=)
c.585G>A (p.Trp195Ter)
c.701G>A (p.Gly234Asp)
c.*323G>A (p.=)
n.654G>A (p.=)
c.629G>A (p.Gly210Asp)
c.671G>A (p.Gly224Asp)
c.668G>A (p.Gly223Asp)
c.242G>A (p.Gly81Asp)
c.659G>A (p.Gly220Asp)
c.710G>A (p.Gly237Asp)
n.317G>A
n.20G>A (p.Gly7Asp)
c.*549G>A (p.=)
c.513G>A (p.Trp171Ter)
c.*439G>A (p.=)
n.613G>A
c.187+294G>A (p.=)
c.*277G>A (p.=)
c.115+1922G>A (p.=)
n.255G>A (p.Trp85Ter)
c.350G>A (p.Gly117Asp)
c.686G>A (p.Gly229Asp)
c.248G>A (p.Gly83Asp)
c.239G>A (p.Gly80Asp)
c.254G>A (p.Gly85Asp)
n.757G>A
c.281G>A (p.Gly94Asp)
n.884G>A
n.698G>A
c.110G>A (p.Gly37Asp)
n.671G>A
n.483G>A
n.663G>A
n.1198G>A
n.771G>A
n.854G>A
n.703G>A
ClinVar
1g.45332470C>ACA340134898MUTYHc.635G>T (p.Trp212Leu)
c.625G>T (p.Gly209Cys)
c.*364G>T (p.=)
c.1213G>T (p.Gly405Cys)
c.593G>T (p.Trp198Leu)
c.*598G>T (p.=)
c.584G>T (p.Trp195Leu)
c.700G>T (p.Gly234Cys)
c.*322G>T (p.=)
n.653G>T (p.=)
c.628G>T (p.Gly210Cys)
c.670G>T (p.Gly224Cys)
c.667G>T (p.Gly223Cys)
c.241G>T (p.Gly81Cys)
c.658G>T (p.Gly220Cys)
c.709G>T (p.Gly237Cys)
n.316G>T
n.19G>T (p.Gly7Cys)
c.*548G>T (p.=)
c.512G>T (p.Trp171Leu)
c.*438G>T (p.=)
n.612G>T
c.187+293G>T (p.=)
c.*276G>T (p.=)
c.115+1921G>T (p.=)
n.254G>T (p.Trp85Leu)
c.349G>T (p.Gly117Cys)
c.685G>T (p.Gly229Cys)
c.247G>T (p.Gly83Cys)
c.238G>T (p.Gly80Cys)
c.253G>T (p.Gly85Cys)
n.756G>T
c.280G>T (p.Gly94Cys)
n.883G>T
n.697G>T
c.109G>T (p.Gly37Cys)
n.670G>T
n.482G>T
n.662G>T
n.1197G>T
n.770G>T
n.853G>T
n.702G>T

Number of alleles fetched