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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.45329096_45333380delinsTA | CA259818 | ClinVar | ||
| 1 | g.45332457_45332463delinsCGTGCTA | CA2473712739 | MUTYH | c.248_254delinsTAGCACG (p.Val83=) c.665_671delinsTAGCACG (p.Val222=) c.632_638delinsTAGCACG (p.Val211=) c.650_656delinsTAGCACG (p.Val217=) c.674_680delinsTAGCACG (p.Val225=) c.255_261delinsTAGCACG (p.Arg85=) c.*544_*550delinsTAGCACG (n.*544_*550delinsTAGCACG) c.716_722delinsTAGCACG (p.Val239=) c.707_713delinsTAGCACG (p.Val236=) c.642_648delinsTAGCACG (p.Arg214=) c.*371_*377delinsTAGCACG (n.*371_*377delinsTAGCACG) c.1220_1226delinsTAGCACG (p.Val407=) c.600_606delinsTAGCACG (p.Arg200=) c.*605_*611delinsTAGCACG (n.*605_*611delinsTAGCACG) c.591_597delinsTAGCACG (p.Arg197=) c.*329_*335delinsTAGCACG (n.*329_*335delinsTAGCACG) c.660_666delinsTAGCACG (n.660_666delinsTAGCACG) c.635_641delinsTAGCACG (p.Val212=) c.677_683delinsTAGCACG (p.Val226=) n.323_329delinsTAGCACG c.26_32delinsTAGCACG (p.Val9=) c.*555_*561delinsTAGCACG (n.*555_*561delinsTAGCACG) c.519_525delinsTAGCACG (p.Arg173=) c.*445_*451delinsTAGCACG (n.*445_*451delinsTAGCACG) n.619_625delinsTAGCACG c.187+300_187+306delinsTAGCACG (n.187+300_187+306delinsTAGCACG) c.*283_*289delinsTAGCACG (n.*283_*289delinsTAGCACG) c.115+1928_115+1934delinsTAGCACG (n.115+1928_115+1934delinsTAGCACG) c.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 | |
| 1 | g.45332458G>A | CA014196 | MUTYH | c.253C>T (p.Arg85Trp) c.670C>T (p.Arg224Trp) c.637C>T (p.Arg213Trp) c.655C>T (p.Arg219Trp) c.679C>T (p.Arg227Trp) c.260C>T (p.Thr87Met) c.*549C>T (n.*549C>T) c.721C>T (p.Arg241Trp) c.712C>T (p.Arg238Trp) c.647C>T (p.Thr216Met) c.*376C>T (n.*376C>T) c.1225C>T (p.Arg409Trp) c.605C>T (p.Thr202Met) c.*610C>T (n.*610C>T) c.596C>T (p.Thr199Met) c.*334C>T (n.*334C>T) c.665C>T (n.665C>T) c.640C>T (p.Arg214Trp) c.682C>T (p.Arg228Trp) n.328C>T c.31C>T (p.Arg11Trp) c.*560C>T (n.*560C>T) c.524C>T (p.Thr175Met) c.*450C>T (n.*450C>T) n.624C>T c.187+305C>T (n.187+305C>T) c.*288C>T (n.*288C>T) c.115+1933C>T (n.115+1933C>T) c.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 v2 gnomAD v3 gnomAD v4 |
| 1 | g.45332458G>C | CA340134866 | MUTYH | c.253C>G (p.Arg85Gly) c.670C>G (p.Arg224Gly) c.637C>G (p.Arg213Gly) c.655C>G (p.Arg219Gly) c.679C>G (p.Arg227Gly) c.260C>G (p.Thr87Arg) c.*549C>G (n.*549C>G) c.721C>G (p.Arg241Gly) c.712C>G (p.Arg238Gly) c.647C>G (p.Thr216Arg) c.*376C>G (n.*376C>G) c.1225C>G (p.Arg409Gly) c.605C>G (p.Thr202Arg) c.*610C>G (n.*610C>G) c.596C>G (p.Thr199Arg) c.*334C>G (n.*334C>G) c.665C>G (n.665C>G) c.640C>G (p.Arg214Gly) c.682C>G (p.Arg228Gly) n.328C>G c.31C>G (p.Arg11Gly) c.*560C>G (n.*560C>G) c.524C>G (p.Thr175Arg) c.*450C>G (n.*450C>G) n.624C>G c.187+305C>G (n.187+305C>G) c.*288C>G (n.*288C>G) c.115+1933C>G (n.115+1933C>G) c.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 | |
| 1 | g.45332458G= | CA1140503448 | MUTYH | c.253C= (p.Arg85=) c.670C= (p.Arg224=) c.637C= (p.Arg213=) c.655C= (p.Arg219=) c.679C= (p.Arg227=) c.260C= (p.Thr87=) c.*549C= (n.*549C=) c.721C= (p.Arg241=) c.712C= (p.Arg238=) c.647C= (p.Thr216=) c.*376C= (n.*376C=) c.1225C= (p.Arg409=) c.605C= (p.Thr202=) c.*610C= (n.*610C=) c.596C= (p.Thr199=) c.*334C= (n.*334C=) c.665C= (n.665C=) c.640C= (p.Arg214=) c.682C= (p.Arg228=) n.328C= c.31C= (p.Arg11=) c.*560C= (n.*560C=) c.524C= (p.Thr175=) c.*450C= (n.*450C=) n.624C= c.187+305C= (n.187+305C=) c.*288C= (n.*288C=) c.115+1933C= (n.115+1933C=) c.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= | |
| 1 | g.45332458G>T | CA417880260 | MUTYH | c.253C>A (p.Arg85=) c.670C>A (p.Arg224=) c.637C>A (p.Arg213=) c.655C>A (p.Arg219=) c.679C>A (p.Arg227=) c.260C>A (p.Thr87Lys) c.*549C>A (n.*549C>A) c.721C>A (p.Arg241=) c.712C>A (p.Arg238=) c.647C>A (p.Thr216Lys) c.*376C>A (n.*376C>A) c.1225C>A (p.Arg409=) c.605C>A (p.Thr202Lys) c.*610C>A (n.*610C>A) c.596C>A (p.Thr199Lys) c.*334C>A (n.*334C>A) c.665C>A (n.665C>A) c.640C>A (p.Arg214=) c.682C>A (p.Arg228=) n.328C>A c.31C>A (p.Arg11=) c.*560C>A (n.*560C>A) c.524C>A (p.Thr175Lys) c.*450C>A (n.*450C>A) n.624C>A c.187+305C>A (n.187+305C>A) c.*288C>A (n.*288C>A) c.115+1933C>A (n.115+1933C>A) c.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 | |
| 1 | g.45332458_45332463delinsAGCAGCTG | CA16617162 | MUTYH | c.248_253delinsCAGCTGCT (p.Val83AlafsTer28) c.665_670delinsCAGCTGCT (p.Val222AlafsTer28) c.632_637delinsCAGCTGCT (p.Val211AlafsTer28) c.650_655delinsCAGCTGCT (p.Val217AlafsTer28) c.674_679delinsCAGCTGCT (p.Val225AlafsTer28) c.255_260delinsCAGCTGCT (p.Thr87CysfsTer?) c.*544_*549delinsCAGCTGCT (n.*544_*549delinsCAGCTGCT) c.716_721delinsCAGCTGCT (p.Val239AlafsTer28) c.707_712delinsCAGCTGCT (p.Val236AlafsTer28) c.642_647delinsCAGCTGCT (p.Thr216CysfsTer?) c.*371_*376delinsCAGCTGCT (n.*371_*376delinsCAGCTGCT) c.1220_1225delinsCAGCTGCT (p.Val407AlafsTer28) c.600_605delinsCAGCTGCT (p.Thr202CysfsTer?) c.*605_*610delinsCAGCTGCT (n.*605_*610delinsCAGCTGCT) c.591_596delinsCAGCTGCT (p.Thr199CysfsTer?) c.*329_*334delinsCAGCTGCT (n.*329_*334delinsCAGCTGCT) c.660_665delinsCAGCTGCT (n.660_665delinsCAGCTGCT) c.635_640delinsCAGCTGCT (p.Val212AlafsTer28) c.677_682delinsCAGCTGCT (p.Val226AlafsTer28) n.323_328delinsCAGCTGCT c.26_31delinsCAGCTGCT (p.Val9AlafsTer28) c.*555_*560delinsCAGCTGCT (n.*555_*560delinsCAGCTGCT) c.519_524delinsCAGCTGCT (p.Thr175CysfsTer?) c.*445_*450delinsCAGCTGCT (n.*445_*450delinsCAGCTGCT) n.619_624delinsCAGCTGCT c.187+300_187+305delinsCAGCTGCT (n.187+300_187+305delinsCAGCTGCT) c.*283_*288delinsCAGCTGCT (n.*283_*288delinsCAGCTGCT) c.115+1928_115+1933delinsCAGCTGCT (n.115+1928_115+1933delinsCAGCTGCT) c.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 |
| 1 | g.45332459T>A | CA417880261 | MUTYH | c.252A>T (p.Ala84=) c.669A>T (p.Ala223=) c.636A>T (p.Ala212=) c.654A>T (p.Ala218=) c.678A>T (p.Ala226=) c.259A>T (p.Thr87Ser) c.*548A>T (n.*548A>T) c.720A>T (p.Ala240=) c.711A>T (p.Ala237=) c.646A>T (p.Thr216Ser) c.*375A>T (n.*375A>T) c.1224A>T (p.Ala408=) c.604A>T (p.Thr202Ser) c.*609A>T (n.*609A>T) c.595A>T (p.Thr199Ser) c.*333A>T (n.*333A>T) c.664A>T (n.664A>T) c.639A>T (p.Ala213=) c.681A>T (p.Ala227=) n.327A>T c.30A>T (p.Ala10=) c.*559A>T (n.*559A>T) c.523A>T (p.Thr175Ser) c.*449A>T (n.*449A>T) n.623A>T c.187+304A>T (n.187+304A>T) c.*287A>T (n.*287A>T) c.115+1932A>T (n.115+1932A>T) c.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 | ClinVar dbSNP |
| 1 | g.45332459T>C | CA417880262 | MUTYH | c.252A>G (p.Ala84=) c.669A>G (p.Ala223=) c.636A>G (p.Ala212=) c.654A>G (p.Ala218=) c.678A>G (p.Ala226=) c.259A>G (p.Thr87Ala) c.*548A>G (n.*548A>G) c.720A>G (p.Ala240=) c.711A>G (p.Ala237=) c.646A>G (p.Thr216Ala) c.*375A>G (n.*375A>G) c.1224A>G (p.Ala408=) c.604A>G (p.Thr202Ala) c.*609A>G (n.*609A>G) c.595A>G (p.Thr199Ala) c.*333A>G (n.*333A>G) c.664A>G (n.664A>G) c.639A>G (p.Ala213=) c.681A>G (p.Ala227=) n.327A>G c.30A>G (p.Ala10=) c.*559A>G (n.*559A>G) c.523A>G (p.Thr175Ala) c.*449A>G (n.*449A>G) n.623A>G c.187+304A>G (n.187+304A>G) c.*287A>G (n.*287A>G) c.115+1932A>G (n.115+1932A>G) c.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 | ClinVar |
| 1 | g.45332459T>G | CA417880263 | MUTYH | c.252A>C (p.Ala84=) c.669A>C (p.Ala223=) c.636A>C (p.Ala212=) c.654A>C (p.Ala218=) c.678A>C (p.Ala226=) c.259A>C (p.Thr87Pro) c.*548A>C (n.*548A>C) c.720A>C (p.Ala240=) c.711A>C (p.Ala237=) c.646A>C (p.Thr216Pro) c.*375A>C (n.*375A>C) c.1224A>C (p.Ala408=) c.604A>C (p.Thr202Pro) c.*609A>C (n.*609A>C) c.595A>C (p.Thr199Pro) c.*333A>C (n.*333A>C) c.664A>C (n.664A>C) c.639A>C (p.Ala213=) c.681A>C (p.Ala227=) n.327A>C c.30A>C (p.Ala10=) c.*559A>C (n.*559A>C) c.523A>C (p.Thr175Pro) c.*449A>C (n.*449A>C) n.623A>C c.187+304A>C (n.187+304A>C) c.*287A>C (n.*287A>C) c.115+1932A>C (n.115+1932A>C) c.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 | |
| 1 | g.45332460G>A | CA014186 | MUTYH | c.251C>T (p.Ala84Val) c.668C>T (p.Ala223Val) c.635C>T (p.Ala212Val) c.653C>T (p.Ala218Val) c.677C>T (p.Ala226Val) c.258C>T (p.Ser86=) c.*547C>T (n.*547C>T) c.719C>T (p.Ala240Val) c.710C>T (p.Ala237Val) c.645C>T (p.Ser215=) c.*374C>T (n.*374C>T) c.1223C>T (p.Ala408Val) c.603C>T (p.Ser201=) c.*608C>T (n.*608C>T) c.594C>T (p.Ser198=) c.*332C>T (n.*332C>T) c.663C>T (n.663C>T) c.638C>T (p.Ala213Val) c.680C>T (p.Ala227Val) n.326C>T c.29C>T (p.Ala10Val) c.*558C>T (n.*558C>T) c.522C>T (p.Ser174=) c.*448C>T (n.*448C>T) n.622C>T c.187+303C>T (n.187+303C>T) c.*286C>T (n.*286C>T) c.115+1931C>T (n.115+1931C>T) c.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 v2 gnomAD v3 gnomAD v4 |
| 1 | g.45332460G>C | CA340134868 | MUTYH | c.251C>G (p.Ala84Gly) c.668C>G (p.Ala223Gly) c.635C>G (p.Ala212Gly) c.653C>G (p.Ala218Gly) c.677C>G (p.Ala226Gly) c.258C>G (p.Ser86Arg) c.*547C>G (n.*547C>G) c.719C>G (p.Ala240Gly) c.710C>G (p.Ala237Gly) c.645C>G (p.Ser215Arg) c.*374C>G (n.*374C>G) c.1223C>G (p.Ala408Gly) c.603C>G (p.Ser201Arg) c.*608C>G (n.*608C>G) c.594C>G (p.Ser198Arg) c.*332C>G (n.*332C>G) c.663C>G (n.663C>G) c.638C>G (p.Ala213Gly) c.680C>G (p.Ala227Gly) n.326C>G c.29C>G (p.Ala10Gly) c.*558C>G (n.*558C>G) c.522C>G (p.Ser174Arg) c.*448C>G (n.*448C>G) n.622C>G c.187+303C>G (n.187+303C>G) c.*286C>G (n.*286C>G) c.115+1931C>G (n.115+1931C>G) c.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 | ClinVar |
| 1 | g.45332460G= | CA1143642607 | MUTYH | c.251C= (p.Ala84=) c.668C= (p.Ala223=) c.635C= (p.Ala212=) c.653C= (p.Ala218=) c.677C= (p.Ala226=) c.258C= (p.Ser86=) c.*547C= (n.*547C=) c.719C= (p.Ala240=) c.710C= (p.Ala237=) c.645C= (p.Ser215=) c.*374C= (n.*374C=) c.1223C= (p.Ala408=) c.603C= (p.Ser201=) c.*608C= (n.*608C=) c.594C= (p.Ser198=) c.*332C= (n.*332C=) c.663C= (n.663C=) c.638C= (p.Ala213=) c.680C= (p.Ala227=) n.326C= c.29C= (p.Ala10=) c.*558C= (n.*558C=) c.522C= (p.Ser174=) c.*448C= (n.*448C=) n.622C= c.187+303C= (n.187+303C=) c.*286C= (n.*286C=) c.115+1931C= (n.115+1931C=) c.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= | |
| 1 | g.45332460G>T | CA340134870 | MUTYH | c.251C>A (p.Ala84Glu) c.668C>A (p.Ala223Glu) c.635C>A (p.Ala212Glu) c.653C>A (p.Ala218Glu) c.677C>A (p.Ala226Glu) c.258C>A (p.Ser86Arg) c.*547C>A (n.*547C>A) c.719C>A (p.Ala240Glu) c.710C>A (p.Ala237Glu) c.645C>A (p.Ser215Arg) c.*374C>A (n.*374C>A) c.1223C>A (p.Ala408Glu) c.603C>A (p.Ser201Arg) c.*608C>A (n.*608C>A) c.594C>A (p.Ser198Arg) c.*332C>A (n.*332C>A) c.663C>A (n.663C>A) c.638C>A (p.Ala213Glu) c.680C>A (p.Ala227Glu) n.326C>A c.29C>A (p.Ala10Glu) c.*558C>A (n.*558C>A) c.522C>A (p.Ser174Arg) c.*448C>A (n.*448C>A) n.622C>A c.187+303C>A (n.187+303C>A) c.*286C>A (n.*286C>A) c.115+1931C>A (n.115+1931C>A) c.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 | |
| 1 | g.45332461C>A | CA340134871 | MUTYH | c.250G>T (p.Ala84Ser) c.667G>T (p.Ala223Ser) c.634G>T (p.Ala212Ser) c.652G>T (p.Ala218Ser) c.676G>T (p.Ala226Ser) c.257G>T (p.Ser86Ile) c.*546G>T (n.*546G>T) c.718G>T (p.Ala240Ser) c.709G>T (p.Ala237Ser) c.644G>T (p.Ser215Ile) c.*373G>T (n.*373G>T) c.1222G>T (p.Ala408Ser) c.602G>T (p.Ser201Ile) c.*607G>T (n.*607G>T) c.593G>T (p.Ser198Ile) c.*331G>T (n.*331G>T) c.662G>T (n.662G>T) c.637G>T (p.Ala213Ser) c.679G>T (p.Ala227Ser) n.325G>T c.28G>T (p.Ala10Ser) c.*557G>T (n.*557G>T) c.521G>T (p.Ser174Ile) c.*447G>T (n.*447G>T) n.621G>T c.187+302G>T (n.187+302G>T) c.*285G>T (n.*285G>T) c.115+1930G>T (n.115+1930G>T) c.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 | |
| 1 | g.45332461C= | CA2473712740 | MUTYH | c.250G= (p.Ala84=) c.667G= (p.Ala223=) c.634G= (p.Ala212=) c.652G= (p.Ala218=) c.676G= (p.Ala226=) c.257G= (p.Ser86=) c.*546G= (n.*546G=) c.718G= (p.Ala240=) c.709G= (p.Ala237=) c.644G= (p.Ser215=) c.*373G= (n.*373G=) c.1222G= (p.Ala408=) c.602G= (p.Ser201=) c.*607G= (n.*607G=) c.593G= (p.Ser198=) c.*331G= (n.*331G=) c.662G= (n.662G=) c.637G= (p.Ala213=) c.679G= (p.Ala227=) n.325G= c.28G= (p.Ala10=) c.*557G= (n.*557G=) c.521G= (p.Ser174=) c.*447G= (n.*447G=) n.621G= c.187+302G= (n.187+302G=) c.*285G= (n.*285G=) c.115+1930G= (n.115+1930G=) c.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= | |
| 1 | g.45332461C>G | CA340134873 | MUTYH | c.250G>C (p.Ala84Pro) c.667G>C (p.Ala223Pro) c.634G>C (p.Ala212Pro) c.652G>C (p.Ala218Pro) c.676G>C (p.Ala226Pro) c.257G>C (p.Ser86Thr) c.*546G>C (n.*546G>C) c.718G>C (p.Ala240Pro) c.709G>C (p.Ala237Pro) c.644G>C (p.Ser215Thr) c.*373G>C (n.*373G>C) c.1222G>C (p.Ala408Pro) c.602G>C (p.Ser201Thr) c.*607G>C (n.*607G>C) c.593G>C (p.Ser198Thr) c.*331G>C (n.*331G>C) c.662G>C (n.662G>C) c.637G>C (p.Ala213Pro) c.679G>C (p.Ala227Pro) n.325G>C c.28G>C (p.Ala10Pro) c.*557G>C (n.*557G>C) c.521G>C (p.Ser174Thr) c.*447G>C (n.*447G>C) n.621G>C c.187+302G>C (n.187+302G>C) c.*285G>C (n.*285G>C) c.115+1930G>C (n.115+1930G>C) c.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 dbSNP |
| 1 | g.45332461C>T | CA058824 | MUTYH | c.250G>A (p.Ala84Thr) c.667G>A (p.Ala223Thr) c.634G>A (p.Ala212Thr) c.652G>A (p.Ala218Thr) c.676G>A (p.Ala226Thr) c.257G>A (p.Ser86Asn) c.*546G>A (n.*546G>A) c.718G>A (p.Ala240Thr) c.709G>A (p.Ala237Thr) c.644G>A (p.Ser215Asn) c.*373G>A (n.*373G>A) c.1222G>A (p.Ala408Thr) c.602G>A (p.Ser201Asn) c.*607G>A (n.*607G>A) c.593G>A (p.Ser198Asn) c.*331G>A (n.*331G>A) c.662G>A (n.662G>A) c.637G>A (p.Ala213Thr) c.679G>A (p.Ala227Thr) n.325G>A c.28G>A (p.Ala10Thr) c.*557G>A (n.*557G>A) c.521G>A (p.Ser174Asn) c.*447G>A (n.*447G>A) n.621G>A c.187+302G>A (n.187+302G>A) c.*285G>A (n.*285G>A) c.115+1930G>A (n.115+1930G>A) c.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 v2 gnomAD v3 gnomAD v4 |
| 1 | g.45332462T>A | CA417880265 | MUTYH | c.249A>T (p.Val83=) c.666A>T (p.Val222=) c.633A>T (p.Val211=) c.651A>T (p.Val217=) c.675A>T (p.Val225=) c.256A>T (p.Ser86Cys) c.*545A>T (n.*545A>T) c.717A>T (p.Val239=) c.708A>T (p.Val236=) c.643A>T (p.Ser215Cys) c.*372A>T (n.*372A>T) c.1221A>T (p.Val407=) c.601A>T (p.Ser201Cys) c.*606A>T (n.*606A>T) c.592A>T (p.Ser198Cys) c.*330A>T (n.*330A>T) c.661A>T (n.661A>T) c.636A>T (p.Val212=) c.678A>T (p.Val226=) n.324A>T c.27A>T (p.Val9=) c.*556A>T (n.*556A>T) c.520A>T (p.Ser174Cys) c.*446A>T (n.*446A>T) n.620A>T c.187+301A>T (n.187+301A>T) c.*284A>T (n.*284A>T) c.115+1929A>T (n.115+1929A>T) c.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 | |
| 1 | g.45332462T>C | CA417880266 | MUTYH | c.249A>G (p.Val83=) c.666A>G (p.Val222=) c.633A>G (p.Val211=) c.651A>G (p.Val217=) c.675A>G (p.Val225=) c.256A>G (p.Ser86Gly) c.*545A>G (n.*545A>G) c.717A>G (p.Val239=) c.708A>G (p.Val236=) c.643A>G (p.Ser215Gly) c.*372A>G (n.*372A>G) c.1221A>G (p.Val407=) c.601A>G (p.Ser201Gly) c.*606A>G (n.*606A>G) c.592A>G (p.Ser198Gly) c.*330A>G (n.*330A>G) c.661A>G (n.661A>G) c.636A>G (p.Val212=) c.678A>G (p.Val226=) n.324A>G c.27A>G (p.Val9=) c.*556A>G (n.*556A>G) c.520A>G (p.Ser174Gly) c.*446A>G (n.*446A>G) n.620A>G c.187+301A>G (n.187+301A>G) c.*284A>G (n.*284A>G) c.115+1929A>G (n.115+1929A>G) c.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 dbSNP gnomAD v4 |
| 1 | g.45332462T>G | CA417880264 | MUTYH | c.249A>C (p.Val83=) c.666A>C (p.Val222=) c.633A>C (p.Val211=) c.651A>C (p.Val217=) c.675A>C (p.Val225=) c.256A>C (p.Ser86Arg) c.*545A>C (n.*545A>C) c.717A>C (p.Val239=) c.708A>C (p.Val236=) c.643A>C (p.Ser215Arg) c.*372A>C (n.*372A>C) c.1221A>C (p.Val407=) c.601A>C (p.Ser201Arg) c.*606A>C (n.*606A>C) c.592A>C (p.Ser198Arg) c.*330A>C (n.*330A>C) c.661A>C (n.661A>C) c.636A>C (p.Val212=) c.678A>C (p.Val226=) n.324A>C c.27A>C (p.Val9=) c.*556A>C (n.*556A>C) c.520A>C (p.Ser174Arg) c.*446A>C (n.*446A>C) n.620A>C c.187+301A>C (n.187+301A>C) c.*284A>C (n.*284A>C) c.115+1929A>C (n.115+1929A>C) c.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 | |
| 1 | g.45332462T= | CA2473712741 | MUTYH | c.249A= (p.Val83=) c.666A= (p.Val222=) c.633A= (p.Val211=) c.651A= (p.Val217=) c.675A= (p.Val225=) c.256A= (p.Ser86=) c.*545A= (n.*545A=) c.717A= (p.Val239=) c.708A= (p.Val236=) c.643A= (p.Ser215=) c.*372A= (n.*372A=) c.1221A= (p.Val407=) c.601A= (p.Ser201=) c.*606A= (n.*606A=) c.592A= (p.Ser198=) c.*330A= (n.*330A=) c.661A= (n.661A=) c.636A= (p.Val212=) c.678A= (p.Val226=) n.324A= c.27A= (p.Val9=) c.*556A= (n.*556A=) c.520A= (p.Ser174=) c.*446A= (n.*446A=) n.620A= c.187+301A= (n.187+301A=) c.*284A= (n.*284A=) c.115+1929A= (n.115+1929A=) c.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= | |
| 1 | g.45332463A>C | CA340134875 | MUTYH | c.248T>G (p.Val83Gly) c.665T>G (p.Val222Gly) c.632T>G (p.Val211Gly) c.650T>G (p.Val217Gly) c.674T>G (p.Val225Gly) c.255T>G (p.Arg85=) c.*544T>G (n.*544T>G) c.716T>G (p.Val239Gly) c.707T>G (p.Val236Gly) c.642T>G (p.Arg214=) c.*371T>G (n.*371T>G) c.1220T>G (p.Val407Gly) c.600T>G (p.Arg200=) c.*605T>G (n.*605T>G) c.591T>G (p.Arg197=) c.*329T>G (n.*329T>G) c.660T>G (n.660T>G) c.635T>G (p.Val212Gly) c.677T>G (p.Val226Gly) n.323T>G c.26T>G (p.Val9Gly) c.*555T>G (n.*555T>G) c.519T>G (p.Arg173=) c.*445T>G (n.*445T>G) n.619T>G c.187+300T>G (n.187+300T>G) c.*283T>G (n.*283T>G) c.115+1928T>G (n.115+1928T>G) c.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 | dbSNP |
| 1 | g.45332463A>G | CA340134877 | MUTYH | c.248T>C (p.Val83Ala) c.665T>C (p.Val222Ala) c.632T>C (p.Val211Ala) c.650T>C (p.Val217Ala) c.674T>C (p.Val225Ala) c.255T>C (p.Arg85=) c.*544T>C (n.*544T>C) c.716T>C (p.Val239Ala) c.707T>C (p.Val236Ala) c.642T>C (p.Arg214=) c.*371T>C (n.*371T>C) c.1220T>C (p.Val407Ala) c.600T>C (p.Arg200=) c.*605T>C (n.*605T>C) c.591T>C (p.Arg197=) c.*329T>C (n.*329T>C) c.660T>C (n.660T>C) c.635T>C (p.Val212Ala) c.677T>C (p.Val226Ala) n.323T>C c.26T>C (p.Val9Ala) c.*555T>C (n.*555T>C) c.519T>C (p.Arg173=) c.*445T>C (n.*445T>C) n.619T>C c.187+300T>C (n.187+300T>C) c.*283T>C (n.*283T>C) c.115+1928T>C (n.115+1928T>C) c.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 | |
| 1 | g.45332463A>T | CA340134879 | MUTYH | c.248T>A (p.Val83Glu) c.665T>A (p.Val222Glu) c.632T>A (p.Val211Glu) c.650T>A (p.Val217Glu) c.674T>A (p.Val225Glu) c.255T>A (p.Arg85=) c.*544T>A (n.*544T>A) c.716T>A (p.Val239Glu) c.707T>A (p.Val236Glu) c.642T>A (p.Arg214=) c.*371T>A (n.*371T>A) c.1220T>A (p.Val407Glu) c.600T>A (p.Arg200=) c.*605T>A (n.*605T>A) c.591T>A (p.Arg197=) c.*329T>A (n.*329T>A) c.660T>A (n.660T>A) c.635T>A (p.Val212Glu) c.677T>A (p.Val226Glu) n.323T>A c.26T>A (p.Val9Glu) c.*555T>A (n.*555T>A) c.519T>A (p.Arg173=) c.*445T>A (n.*445T>A) n.619T>A c.187+300T>A (n.187+300T>A) c.*283T>A (n.*283T>A) c.115+1928T>A (n.115+1928T>A) c.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 | |
| 1 | g.45332464C>A | CA340134880 | MUTYH | c.247G>T (p.Val83Leu) c.664G>T (p.Val222Leu) c.631G>T (p.Val211Leu) c.649G>T (p.Val217Leu) c.673G>T (p.Val225Leu) c.254G>T (p.Arg85Leu) c.*543G>T (n.*543G>T) c.715G>T (p.Val239Leu) c.706G>T (p.Val236Leu) c.641G>T (p.Arg214Leu) c.*370G>T (n.*370G>T) c.1219G>T (p.Val407Leu) c.599G>T (p.Arg200Leu) c.*604G>T (n.*604G>T) c.590G>T (p.Arg197Leu) c.*328G>T (n.*328G>T) c.659G>T (n.659G>T) c.634G>T (p.Val212Leu) c.676G>T (p.Val226Leu) n.322G>T c.25G>T (p.Val9Leu) c.*554G>T (n.*554G>T) c.518G>T (p.Arg173Leu) c.*444G>T (n.*444G>T) n.618G>T c.187+299G>T (n.187+299G>T) c.*282G>T (n.*282G>T) c.115+1927G>T (n.115+1927G>T) c.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 | ClinVar |
| 1 | g.45332464C= | CA2473712742 | MUTYH | c.247G= (p.Val83=) c.664G= (p.Val222=) c.631G= (p.Val211=) c.649G= (p.Val217=) c.673G= (p.Val225=) c.254G= (p.Arg85=) c.*543G= (n.*543G=) c.715G= (p.Val239=) c.706G= (p.Val236=) c.641G= (p.Arg214=) c.*370G= (n.*370G=) c.1219G= (p.Val407=) c.599G= (p.Arg200=) c.*604G= (n.*604G=) c.590G= (p.Arg197=) c.*328G= (n.*328G=) c.659G= (n.659G=) c.634G= (p.Val212=) c.676G= (p.Val226=) n.322G= c.25G= (p.Val9=) c.*554G= (n.*554G=) c.518G= (p.Arg173=) c.*444G= (n.*444G=) n.618G= c.187+299G= (n.187+299G=) c.*282G= (n.*282G=) c.115+1927G= (n.115+1927G=) c.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= | |
| 1 | g.45332464C>G | CA340134881 | MUTYH | c.247G>C (p.Val83Leu) c.664G>C (p.Val222Leu) c.631G>C (p.Val211Leu) c.649G>C (p.Val217Leu) c.673G>C (p.Val225Leu) c.254G>C (p.Arg85Pro) c.*543G>C (n.*543G>C) c.715G>C (p.Val239Leu) c.706G>C (p.Val236Leu) c.641G>C (p.Arg214Pro) c.*370G>C (n.*370G>C) c.1219G>C (p.Val407Leu) c.599G>C (p.Arg200Pro) c.*604G>C (n.*604G>C) c.590G>C (p.Arg197Pro) c.*328G>C (n.*328G>C) c.659G>C (n.659G>C) c.634G>C (p.Val212Leu) c.676G>C (p.Val226Leu) n.322G>C c.25G>C (p.Val9Leu) c.*554G>C (n.*554G>C) c.518G>C (p.Arg173Pro) c.*444G>C (n.*444G>C) n.618G>C c.187+299G>C (n.187+299G>C) c.*282G>C (n.*282G>C) c.115+1927G>C (n.115+1927G>C) c.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 dbSNP |
| 1 | g.45332464C>T | CA014175 | MUTYH | c.247G>A (p.Val83Ile) c.664G>A (p.Val222Ile) c.631G>A (p.Val211Ile) c.649G>A (p.Val217Ile) c.673G>A (p.Val225Ile) c.254G>A (p.Arg85His) c.*543G>A (n.*543G>A) c.715G>A (p.Val239Ile) c.706G>A (p.Val236Ile) c.641G>A (p.Arg214His) c.*370G>A (n.*370G>A) c.1219G>A (p.Val407Ile) c.599G>A (p.Arg200His) c.*604G>A (n.*604G>A) c.590G>A (p.Arg197His) c.*328G>A (n.*328G>A) c.659G>A (n.659G>A) c.634G>A (p.Val212Ile) c.676G>A (p.Val226Ile) n.322G>A c.25G>A (p.Val9Ile) c.*554G>A (n.*554G>A) c.518G>A (p.Arg173His) c.*444G>A (n.*444G>A) n.618G>A c.187+299G>A (n.187+299G>A) c.*282G>A (n.*282G>A) c.115+1927G>A (n.115+1927G>A) c.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 v2 gnomAD v3 gnomAD v4 |
| 1 | g.45332465G>A | CA014164 | MUTYH | c.246C>T (p.Asn82=) c.663C>T (p.Asn221=) c.630C>T (p.Asn210=) c.648C>T (p.Asn216=) c.672C>T (p.Asn224=) c.253C>T (p.Arg85Cys) c.*542C>T (n.*542C>T) c.714C>T (p.Asn238=) c.705C>T (p.Asn235=) c.640C>T (p.Arg214Cys) c.*369C>T (n.*369C>T) c.1218C>T (p.Asn406=) c.598C>T (p.Arg200Cys) c.*603C>T (n.*603C>T) c.589C>T (p.Arg197Cys) c.*327C>T (n.*327C>T) c.658C>T (n.658C>T) c.633C>T (p.Asn211=) c.675C>T (p.Asn225=) n.321C>T c.24C>T (p.Asn8=) c.*553C>T (n.*553C>T) c.517C>T (p.Arg173Cys) c.*443C>T (n.*443C>T) n.617C>T c.187+298C>T (n.187+298C>T) c.*281C>T (n.*281C>T) c.115+1926C>T (n.115+1926C>T) c.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 v2 gnomAD v3 gnomAD v4 |
| 1 | g.45332465G>C | CA340134883 | MUTYH | c.246C>G (p.Asn82Lys) c.663C>G (p.Asn221Lys) c.630C>G (p.Asn210Lys) c.648C>G (p.Asn216Lys) c.672C>G (p.Asn224Lys) c.253C>G (p.Arg85Gly) c.*542C>G (n.*542C>G) c.714C>G (p.Asn238Lys) c.705C>G (p.Asn235Lys) c.640C>G (p.Arg214Gly) c.*369C>G (n.*369C>G) c.1218C>G (p.Asn406Lys) c.598C>G (p.Arg200Gly) c.*603C>G (n.*603C>G) c.589C>G (p.Arg197Gly) c.*327C>G (n.*327C>G) c.658C>G (n.658C>G) c.633C>G (p.Asn211Lys) c.675C>G (p.Asn225Lys) n.321C>G c.24C>G (p.Asn8Lys) c.*553C>G (n.*553C>G) c.517C>G (p.Arg173Gly) c.*443C>G (n.*443C>G) n.617C>G c.187+298C>G (n.187+298C>G) c.*281C>G (n.*281C>G) c.115+1926C>G (n.115+1926C>G) c.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 | dbSNP |
| 1 | g.45332465G= | CA2473712743 | MUTYH | c.246C= (p.Asn82=) c.663C= (p.Asn221=) c.630C= (p.Asn210=) c.648C= (p.Asn216=) c.672C= (p.Asn224=) c.253C= (p.Arg85=) c.*542C= (n.*542C=) c.714C= (p.Asn238=) c.705C= (p.Asn235=) c.640C= (p.Arg214=) c.*369C= (n.*369C=) c.1218C= (p.Asn406=) c.598C= (p.Arg200=) c.*603C= (n.*603C=) c.589C= (p.Arg197=) c.*327C= (n.*327C=) c.658C= (n.658C=) c.633C= (p.Asn211=) c.675C= (p.Asn225=) n.321C= c.24C= (p.Asn8=) c.*553C= (n.*553C=) c.517C= (p.Arg173=) c.*443C= (n.*443C=) n.617C= c.187+298C= (n.187+298C=) c.*281C= (n.*281C=) c.115+1926C= (n.115+1926C=) c.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= | |
| 1 | g.45332465G>T | CA340134885 | MUTYH | c.246C>A (p.Asn82Lys) c.663C>A (p.Asn221Lys) c.630C>A (p.Asn210Lys) c.648C>A (p.Asn216Lys) c.672C>A (p.Asn224Lys) c.253C>A (p.Arg85Ser) c.*542C>A (n.*542C>A) c.714C>A (p.Asn238Lys) c.705C>A (p.Asn235Lys) c.640C>A (p.Arg214Ser) c.*369C>A (n.*369C>A) c.1218C>A (p.Asn406Lys) c.598C>A (p.Arg200Ser) c.*603C>A (n.*603C>A) c.589C>A (p.Arg197Ser) c.*327C>A (n.*327C>A) c.658C>A (n.658C>A) c.633C>A (p.Asn211Lys) c.675C>A (p.Asn225Lys) n.321C>A c.24C>A (p.Asn8Lys) c.*553C>A (n.*553C>A) c.517C>A (p.Arg173Ser) c.*443C>A (n.*443C>A) n.617C>A c.187+298C>A (n.187+298C>A) c.*281C>A (n.*281C>A) c.115+1926C>A (n.115+1926C>A) c.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 | |
| 1 | g.45332466T>A | CA340134886 | MUTYH | c.245A>T (p.Asn82Ile) c.662A>T (p.Asn221Ile) c.629A>T (p.Asn210Ile) c.647A>T (p.Asn216Ile) c.671A>T (p.Asn224Ile) c.252A>T (p.Gln84His) c.*541A>T (n.*541A>T) c.713A>T (p.Asn238Ile) c.704A>T (p.Asn235Ile) c.639A>T (p.Gln213His) c.*368A>T (n.*368A>T) c.1217A>T (p.Asn406Ile) c.597A>T (p.Gln199His) c.*602A>T (n.*602A>T) c.588A>T (p.Gln196His) c.*326A>T (n.*326A>T) c.657A>T (n.657A>T) c.632A>T (p.Asn211Ile) c.674A>T (p.Asn225Ile) n.320A>T c.23A>T (p.Asn8Ile) c.*552A>T (n.*552A>T) c.516A>T (p.Gln172His) c.*442A>T (n.*442A>T) n.616A>T c.187+297A>T (n.187+297A>T) c.*280A>T (n.*280A>T) c.115+1925A>T (n.115+1925A>T) c.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 | |
| 1 | g.45332466T>C | CA16042398 | MUTYH | c.245A>G (p.Asn82Ser) c.662A>G (p.Asn221Ser) c.629A>G (p.Asn210Ser) c.647A>G (p.Asn216Ser) c.671A>G (p.Asn224Ser) c.252A>G (p.Gln84=) c.*541A>G (n.*541A>G) c.713A>G (p.Asn238Ser) c.704A>G (p.Asn235Ser) c.639A>G (p.Gln213=) c.*368A>G (n.*368A>G) c.1217A>G (p.Asn406Ser) c.597A>G (p.Gln199=) c.*602A>G (n.*602A>G) c.588A>G (p.Gln196=) c.*326A>G (n.*326A>G) c.657A>G (n.657A>G) c.632A>G (p.Asn211Ser) c.674A>G (p.Asn225Ser) n.320A>G c.23A>G (p.Asn8Ser) c.*552A>G (n.*552A>G) c.516A>G (p.Gln172=) c.*442A>G (n.*442A>G) n.616A>G c.187+297A>G (n.187+297A>G) c.*280A>G (n.*280A>G) c.115+1925A>G (n.115+1925A>G) c.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 gnomAD v4 |
| 1 | g.45332466T>G | CA16617163 | MUTYH | c.245A>C (p.Asn82Thr) c.662A>C (p.Asn221Thr) c.629A>C (p.Asn210Thr) c.647A>C (p.Asn216Thr) c.671A>C (p.Asn224Thr) c.252A>C (p.Gln84His) c.*541A>C (n.*541A>C) c.713A>C (p.Asn238Thr) c.704A>C (p.Asn235Thr) c.639A>C (p.Gln213His) c.*368A>C (n.*368A>C) c.1217A>C (p.Asn406Thr) c.597A>C (p.Gln199His) c.*602A>C (n.*602A>C) c.588A>C (p.Gln196His) c.*326A>C (n.*326A>C) c.657A>C (n.657A>C) c.632A>C (p.Asn211Thr) c.674A>C (p.Asn225Thr) n.320A>C c.23A>C (p.Asn8Thr) c.*552A>C (n.*552A>C) c.516A>C (p.Gln172His) c.*442A>C (n.*442A>C) n.616A>C c.187+297A>C (n.187+297A>C) c.*280A>C (n.*280A>C) c.115+1925A>C (n.115+1925A>C) c.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 dbSNP gnomAD v4 |
| 1 | g.45332466T= | CA2473712744 | MUTYH | c.245A= (p.Asn82=) c.662A= (p.Asn221=) c.629A= (p.Asn210=) c.647A= (p.Asn216=) c.671A= (p.Asn224=) c.252A= (p.Gln84=) c.*541A= (n.*541A=) c.713A= (p.Asn238=) c.704A= (p.Asn235=) c.639A= (p.Gln213=) c.*368A= (n.*368A=) c.1217A= (p.Asn406=) c.597A= (p.Gln199=) c.*602A= (n.*602A=) c.588A= (p.Gln196=) c.*326A= (n.*326A=) c.657A= (n.657A=) c.632A= (p.Asn211=) c.674A= (p.Asn225=) n.320A= c.23A= (p.Asn8=) c.*552A= (n.*552A=) c.516A= (p.Gln172=) c.*442A= (n.*442A=) n.616A= c.187+297A= (n.187+297A=) c.*280A= (n.*280A=) c.115+1925A= (n.115+1925A=) c.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= | |
| 1 | g.45332467T>A | CA340134890 | MUTYH | c.244A>T (p.Asn82Tyr) c.661A>T (p.Asn221Tyr) c.628A>T (p.Asn210Tyr) c.646A>T (p.Asn216Tyr) c.670A>T (p.Asn224Tyr) c.251A>T (p.Gln84Leu) c.*540A>T (n.*540A>T) c.712A>T (p.Asn238Tyr) c.703A>T (p.Asn235Tyr) c.638A>T (p.Gln213Leu) c.*367A>T (n.*367A>T) c.1216A>T (p.Asn406Tyr) c.596A>T (p.Gln199Leu) c.*601A>T (n.*601A>T) c.587A>T (p.Gln196Leu) c.*325A>T (n.*325A>T) c.656A>T (n.656A>T) c.631A>T (p.Asn211Tyr) c.673A>T (p.Asn225Tyr) n.319A>T c.22A>T (p.Asn8Tyr) c.*551A>T (n.*551A>T) c.515A>T (p.Gln172Leu) c.*441A>T (n.*441A>T) n.615A>T c.187+296A>T (n.187+296A>T) c.*279A>T (n.*279A>T) c.115+1924A>T (n.115+1924A>T) c.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 | |
| 1 | g.45332467T>C | CA340134891 | MUTYH | c.244A>G (p.Asn82Asp) c.661A>G (p.Asn221Asp) c.628A>G (p.Asn210Asp) c.646A>G (p.Asn216Asp) c.670A>G (p.Asn224Asp) c.251A>G (p.Gln84Arg) c.*540A>G (n.*540A>G) c.712A>G (p.Asn238Asp) c.703A>G (p.Asn235Asp) c.638A>G (p.Gln213Arg) c.*367A>G (n.*367A>G) c.1216A>G (p.Asn406Asp) c.596A>G (p.Gln199Arg) c.*601A>G (n.*601A>G) c.587A>G (p.Gln196Arg) c.*325A>G (n.*325A>G) c.656A>G (n.656A>G) c.631A>G (p.Asn211Asp) c.673A>G (p.Asn225Asp) n.319A>G c.22A>G (p.Asn8Asp) c.*551A>G (n.*551A>G) c.515A>G (p.Gln172Arg) c.*441A>G (n.*441A>G) n.615A>G c.187+296A>G (n.187+296A>G) c.*279A>G (n.*279A>G) c.115+1924A>G (n.115+1924A>G) c.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 | |
| 1 | g.45332467T>G | CA340134889 | MUTYH | c.244A>C (p.Asn82His) c.661A>C (p.Asn221His) c.628A>C (p.Asn210His) c.646A>C (p.Asn216His) c.670A>C (p.Asn224His) c.251A>C (p.Gln84Pro) c.*540A>C (n.*540A>C) c.712A>C (p.Asn238His) c.703A>C (p.Asn235His) c.638A>C (p.Gln213Pro) c.*367A>C (n.*367A>C) c.1216A>C (p.Asn406His) c.596A>C (p.Gln199Pro) c.*601A>C (n.*601A>C) c.587A>C (p.Gln196Pro) c.*325A>C (n.*325A>C) c.656A>C (n.656A>C) c.631A>C (p.Asn211His) c.673A>C (p.Asn225His) n.319A>C c.22A>C (p.Asn8His) c.*551A>C (n.*551A>C) c.515A>C (p.Gln172Pro) c.*441A>C (n.*441A>C) n.615A>C c.187+296A>C (n.187+296A>C) c.*279A>C (n.*279A>C) c.115+1924A>C (n.115+1924A>C) c.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 | |
| 1 | g.45332467_45332468delinsTG | CA2473712745 | MUTYH | c.243_244delinsCA (p.Gly81=) c.660_661delinsCA (p.Gly220=) c.627_628delinsCA (p.Gly209=) c.645_646delinsCA (p.Gly215=) c.669_670delinsCA (p.Gly223=) c.250_251delinsCA (p.Gln84=) c.*539_*540delinsCA (n.*539_*540delinsCA) c.711_712delinsCA (p.Gly237=) c.702_703delinsCA (p.Gly234=) c.637_638delinsCA (p.Gln213=) c.*366_*367delinsCA (n.*366_*367delinsCA) c.1215_1216delinsCA (p.Gly405=) c.595_596delinsCA (p.Gln199=) c.*600_*601delinsCA (n.*600_*601delinsCA) c.586_587delinsCA (p.Gln196=) c.*324_*325delinsCA (n.*324_*325delinsCA) c.655_656delinsCA (n.655_656delinsCA) c.630_631delinsCA (p.Gly210=) c.672_673delinsCA (p.Gly224=) n.318_319delinsCA c.21_22delinsCA (p.Gly7=) c.*550_*551delinsCA (n.*550_*551delinsCA) c.514_515delinsCA (p.Gln172=) c.*440_*441delinsCA (n.*440_*441delinsCA) n.614_615delinsCA c.187+295_187+296delinsCA (n.187+295_187+296delinsCA) c.*278_*279delinsCA (n.*278_*279delinsCA) c.115+1923_115+1924delinsCA (n.115+1923_115+1924delinsCA) c.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 | |
| 1 | g.45332468del | CA2473712746 | MUTYH | c.243del (p.Asn82ThrfsTer2) c.660del (p.Asn221ThrfsTer2) c.627del (p.Asn210ThrfsTer2) c.645del (p.Asn216ThrfsTer2) c.669del (p.Asn224ThrfsTer2) c.250del (p.Gln84AsnfsTer?) c.*539del (n.*539del) c.711del (p.Asn238ThrfsTer2) c.702del (p.Asn235ThrfsTer2) c.637del (p.Gln213AsnfsTer?) c.*366del (n.*366del) c.1215del (p.Asn406ThrfsTer2) c.595del (p.Gln199AsnfsTer?) c.*600del (n.*600del) c.586del (p.Gln196AsnfsTer?) c.*324del (n.*324del) c.655del (n.655del) c.630del (p.Asn211ThrfsTer2) c.672del (p.Asn225ThrfsTer2) n.318del c.21del (p.Asn8ThrfsTer2) c.*550del (n.*550del) c.514del (p.Gln172AsnfsTer?) c.*440del (n.*440del) n.614del c.187+295del (n.187+295del) c.*278del (n.*278del) c.115+1923del (n.115+1923del) c.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 | ClinVar dbSNP |
| 1 | g.45332468G>A | CA417880269 | MUTYH | c.243C>T (p.Gly81=) c.660C>T (p.Gly220=) c.627C>T (p.Gly209=) c.645C>T (p.Gly215=) c.669C>T (p.Gly223=) c.250C>T (p.Gln84Ter) c.*539C>T (n.*539C>T) c.711C>T (p.Gly237=) c.702C>T (p.Gly234=) c.637C>T (p.Gln213Ter) c.*366C>T (n.*366C>T) c.1215C>T (p.Gly405=) c.595C>T (p.Gln199Ter) c.*600C>T (n.*600C>T) c.586C>T (p.Gln196Ter) c.*324C>T (n.*324C>T) c.655C>T (n.655C>T) c.630C>T (p.Gly210=) c.672C>T (p.Gly224=) n.318C>T c.21C>T (p.Gly7=) c.*550C>T (n.*550C>T) c.514C>T (p.Gln172Ter) c.*440C>T (n.*440C>T) n.614C>T c.187+295C>T (n.187+295C>T) c.*278C>T (n.*278C>T) c.115+1923C>T (n.115+1923C>T) c.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 | ClinVar dbSNP gnomAD v4 |
| 1 | g.45332468G>C | CA417880268 | MUTYH | c.243C>G (p.Gly81=) c.660C>G (p.Gly220=) c.627C>G (p.Gly209=) c.645C>G (p.Gly215=) c.669C>G (p.Gly223=) c.250C>G (p.Gln84Glu) c.*539C>G (n.*539C>G) c.711C>G (p.Gly237=) c.702C>G (p.Gly234=) c.637C>G (p.Gln213Glu) c.*366C>G (n.*366C>G) c.1215C>G (p.Gly405=) c.595C>G (p.Gln199Glu) c.*600C>G (n.*600C>G) c.586C>G (p.Gln196Glu) c.*324C>G (n.*324C>G) c.655C>G (n.655C>G) c.630C>G (p.Gly210=) c.672C>G (p.Gly224=) n.318C>G c.21C>G (p.Gly7=) c.*550C>G (n.*550C>G) c.514C>G (p.Gln172Glu) c.*440C>G (n.*440C>G) n.614C>G c.187+295C>G (n.187+295C>G) c.*278C>G (n.*278C>G) c.115+1923C>G (n.115+1923C>G) c.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 | |
| 1 | g.45332468G>T | CA417880267 | MUTYH | c.243C>A (p.Gly81=) c.660C>A (p.Gly220=) c.627C>A (p.Gly209=) c.645C>A (p.Gly215=) c.669C>A (p.Gly223=) c.250C>A (p.Gln84Lys) c.*539C>A (n.*539C>A) c.711C>A (p.Gly237=) c.702C>A (p.Gly234=) c.637C>A (p.Gln213Lys) c.*366C>A (n.*366C>A) c.1215C>A (p.Gly405=) c.595C>A (p.Gln199Lys) c.*600C>A (n.*600C>A) c.586C>A (p.Gln196Lys) c.*324C>A (n.*324C>A) c.655C>A (n.655C>A) c.630C>A (p.Gly210=) c.672C>A (p.Gly224=) n.318C>A c.21C>A (p.Gly7=) c.*550C>A (n.*550C>A) c.514C>A (p.Gln172Lys) c.*440C>A (n.*440C>A) n.614C>A c.187+295C>A (n.187+295C>A) c.*278C>A (n.*278C>A) c.115+1923C>A (n.115+1923C>A) c.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 | |
| 1 | g.45332469C>A | CA340134893 | MUTYH | c.242G>T (p.Gly81Val) c.659G>T (p.Gly220Val) c.626G>T (p.Gly209Val) c.644G>T (p.Gly215Val) c.668G>T (p.Gly223Val) c.249G>T (p.Trp83Cys) c.*538G>T (n.*538G>T) c.710G>T (p.Gly237Val) c.701G>T (p.Gly234Val) c.636G>T (p.Trp212Cys) c.*365G>T (n.*365G>T) c.1214G>T (p.Gly405Val) c.594G>T (p.Trp198Cys) c.*599G>T (n.*599G>T) c.585G>T (p.Trp195Cys) c.*323G>T (n.*323G>T) c.654G>T (n.654G>T) c.629G>T (p.Gly210Val) c.671G>T (p.Gly224Val) n.317G>T c.20G>T (p.Gly7Val) c.*549G>T (n.*549G>T) c.513G>T (p.Trp171Cys) c.*439G>T (n.*439G>T) n.613G>T c.187+294G>T (n.187+294G>T) c.*277G>T (n.*277G>T) c.115+1922G>T (n.115+1922G>T) c.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 | |
| 1 | g.45332469C= | CA2473712747 | MUTYH | c.242G= (p.Gly81=) c.659G= (p.Gly220=) c.626G= (p.Gly209=) c.644G= (p.Gly215=) c.668G= (p.Gly223=) c.249G= (p.Trp83=) c.*538G= (n.*538G=) c.710G= (p.Gly237=) c.701G= (p.Gly234=) c.636G= (p.Trp212=) c.*365G= (n.*365G=) c.1214G= (p.Gly405=) c.594G= (p.Trp198=) c.*599G= (n.*599G=) c.585G= (p.Trp195=) c.*323G= (n.*323G=) c.654G= (n.654G=) c.629G= (p.Gly210=) c.671G= (p.Gly224=) n.317G= c.20G= (p.Gly7=) c.*549G= (n.*549G=) c.513G= (p.Trp171=) c.*439G= (n.*439G=) n.613G= c.187+294G= (n.187+294G=) c.*277G= (n.*277G=) c.115+1922G= (n.115+1922G=) c.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= | |
| 1 | g.45332469C>G | CA340134897 | MUTYH | c.242G>C (p.Gly81Ala) c.659G>C (p.Gly220Ala) c.626G>C (p.Gly209Ala) c.644G>C (p.Gly215Ala) c.668G>C (p.Gly223Ala) c.249G>C (p.Trp83Cys) c.*538G>C (n.*538G>C) c.710G>C (p.Gly237Ala) c.701G>C (p.Gly234Ala) c.636G>C (p.Trp212Cys) c.*365G>C (n.*365G>C) c.1214G>C (p.Gly405Ala) c.594G>C (p.Trp198Cys) c.*599G>C (n.*599G>C) c.585G>C (p.Trp195Cys) c.*323G>C (n.*323G>C) c.654G>C (n.654G>C) c.629G>C (p.Gly210Ala) c.671G>C (p.Gly224Ala) n.317G>C c.20G>C (p.Gly7Ala) c.*549G>C (n.*549G>C) c.513G>C (p.Trp171Cys) c.*439G>C (n.*439G>C) n.613G>C c.187+294G>C (n.187+294G>C) c.*277G>C (n.*277G>C) c.115+1922G>C (n.115+1922G>C) c.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 | |
| 1 | g.45332469C>T | CA340134895 | MUTYH | c.242G>A (p.Gly81Asp) c.659G>A (p.Gly220Asp) c.626G>A (p.Gly209Asp) c.644G>A (p.Gly215Asp) c.668G>A (p.Gly223Asp) c.249G>A (p.Trp83Ter) c.*538G>A (n.*538G>A) c.710G>A (p.Gly237Asp) c.701G>A (p.Gly234Asp) c.636G>A (p.Trp212Ter) c.*365G>A (n.*365G>A) c.1214G>A (p.Gly405Asp) c.594G>A (p.Trp198Ter) c.*599G>A (n.*599G>A) c.585G>A (p.Trp195Ter) c.*323G>A (n.*323G>A) c.654G>A (n.654G>A) c.629G>A (p.Gly210Asp) c.671G>A (p.Gly224Asp) n.317G>A c.20G>A (p.Gly7Asp) c.*549G>A (n.*549G>A) c.513G>A (p.Trp171Ter) c.*439G>A (n.*439G>A) n.613G>A c.187+294G>A (n.187+294G>A) c.*277G>A (n.*277G>A) c.115+1922G>A (n.115+1922G>A) c.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 dbSNP |
| 1 | g.45332470C>A | CA340134898 | MUTYH | c.241G>T (p.Gly81Cys) c.658G>T (p.Gly220Cys) c.625G>T (p.Gly209Cys) c.643G>T (p.Gly215Cys) c.667G>T (p.Gly223Cys) c.248G>T (p.Trp83Leu) c.*537G>T (n.*537G>T) c.709G>T (p.Gly237Cys) c.700G>T (p.Gly234Cys) c.635G>T (p.Trp212Leu) c.*364G>T (n.*364G>T) c.1213G>T (p.Gly405Cys) c.593G>T (p.Trp198Leu) c.*598G>T (n.*598G>T) c.584G>T (p.Trp195Leu) c.*322G>T (n.*322G>T) c.653G>T (n.653G>T) c.628G>T (p.Gly210Cys) c.670G>T (p.Gly224Cys) n.316G>T c.19G>T (p.Gly7Cys) c.*548G>T (n.*548G>T) c.512G>T (p.Trp171Leu) c.*438G>T (n.*438G>T) n.612G>T c.187+293G>T (n.187+293G>T) c.*276G>T (n.*276G>T) c.115+1921G>T (n.115+1921G>T) c.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 |