| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67181284dup | CA2739269519 | SMAD3 | c.117dup (p.Ile40HisfsTer?) c.387dup (p.Ile130HisfsTer?) c.702dup (p.Ile235HisfsTer?) n.405dup c.570dup (p.Ile191HisfsTer?) n.282+6700dup c.555dup (p.Ile186HisfsTer?) | ClinVar |
| 15 | g.67181284C>A | CA490914502 | SMAD3 | c.117C>A (p.Ser39=) c.387C>A (p.Ser129=) c.702C>A (p.Ser234=) n.405C>A c.570C>A (p.Ser190=) n.282+6700C>A c.555C>A (p.Ser185=) | |
| 15 | g.67181284C>G | CA490914506 | SMAD3 | c.117C>G (p.Ser39=) c.387C>G (p.Ser129=) c.702C>G (p.Ser234=) n.405C>G c.570C>G (p.Ser190=) n.282+6700C>G c.555C>G (p.Ser185=) | |
| 15 | g.67181284C>T | CA490914504 | SMAD3 | c.117C>T (p.Ser39=) c.387C>T (p.Ser129=) c.702C>T (p.Ser234=) n.405C>T c.570C>T (p.Ser190=) n.282+6700C>T c.555C>T (p.Ser185=) | |
| 15 | g.67181285A= | CA2184414559 | SMAD3 | c.118A= (p.Ile40=) c.388A= (p.Ile130=) c.703A= (p.Ile235=) n.406A= c.571A= (p.Ile191=) n.282+6701A= c.556A= (p.Ile186=) | |
| 15 | g.67181285A>C | CA392955966 | SMAD3 | c.118A>C (p.Ile40Leu) c.388A>C (p.Ile130Leu) c.703A>C (p.Ile235Leu) n.406A>C c.571A>C (p.Ile191Leu) n.282+6701A>C c.556A>C (p.Ile186Leu) | |
| 15 | g.67181285A>G | CA392955968 | SMAD3 | c.118A>G (p.Ile40Val) c.388A>G (p.Ile130Val) c.703A>G (p.Ile235Val) n.406A>G c.571A>G (p.Ile191Val) n.282+6701A>G c.556A>G (p.Ile186Val) | dbSNP gnomAD v4 |
| 15 | g.67181285A>T | CA392955969 | SMAD3 | c.118A>T (p.Ile40Phe) c.388A>T (p.Ile130Phe) c.703A>T (p.Ile235Phe) n.406A>T c.571A>T (p.Ile191Phe) n.282+6701A>T c.556A>T (p.Ile186Phe) | |
| 15 | g.67181286T>A | CA392955971 | SMAD3 | c.119T>A (p.Ile40Asn) c.389T>A (p.Ile130Asn) c.704T>A (p.Ile235Asn) n.407T>A c.572T>A (p.Ile191Asn) n.282+6702T>A c.557T>A (p.Ile186Asn) | |
| 15 | g.67181286T>C | CA392955974 | SMAD3 | c.119T>C (p.Ile40Thr) c.389T>C (p.Ile130Thr) c.704T>C (p.Ile235Thr) n.407T>C c.572T>C (p.Ile191Thr) n.282+6702T>C c.557T>C (p.Ile186Thr) | |
| 15 | g.67181286T>G | CA392955973 | SMAD3 | c.119T>G (p.Ile40Ser) c.389T>G (p.Ile130Ser) c.704T>G (p.Ile235Ser) n.407T>G c.572T>G (p.Ile191Ser) n.282+6702T>G c.557T>G (p.Ile186Ser) | |
| 15 | g.67181287C>A | CA490914522 | SMAD3 | c.120C>A (p.Ile40=) c.390C>A (p.Ile130=) c.705C>A (p.Ile235=) n.408C>A c.573C>A (p.Ile191=) n.282+6703C>A c.558C>A (p.Ile186=) | |
| 15 | g.67181287C>G | CA392955976 | SMAD3 | c.120C>G (p.Ile40Met) c.390C>G (p.Ile130Met) c.705C>G (p.Ile235Met) n.408C>G c.573C>G (p.Ile191Met) n.282+6703C>G c.558C>G (p.Ile186Met) | dbSNP |
| 15 | g.67181287C>T | CA490914529 | SMAD3 | c.120C>T (p.Ile40=) c.390C>T (p.Ile130=) c.705C>T (p.Ile235=) n.408C>T c.573C>T (p.Ile191=) n.282+6703C>T c.558C>T (p.Ile186=) | |
| 15 | g.67181288T>A | CA392955979 | SMAD3 | c.121T>A (p.Ser41Thr) c.391T>A (p.Ser131Thr) c.706T>A (p.Ser236Thr) n.409T>A c.574T>A (p.Ser192Thr) n.282+6704T>A c.559T>A (p.Ser187Thr) | |
| 15 | g.67181288T>C | CA392955980 | SMAD3 | c.121T>C (p.Ser41Pro) c.391T>C (p.Ser131Pro) c.706T>C (p.Ser236Pro) n.409T>C c.574T>C (p.Ser192Pro) n.282+6704T>C c.559T>C (p.Ser187Pro) | |
| 15 | g.67181288T>G | CA392955981 | SMAD3 | c.121T>G (p.Ser41Ala) c.391T>G (p.Ser131Ala) c.706T>G (p.Ser236Ala) n.409T>G c.574T>G (p.Ser192Ala) n.282+6704T>G c.559T>G (p.Ser187Ala) | |
| 15 | g.67181289C>A | CA392955984 | SMAD3 | c.122C>A (p.Ser41Tyr) c.392C>A (p.Ser131Tyr) c.707C>A (p.Ser236Tyr) n.410C>A c.575C>A (p.Ser192Tyr) n.282+6705C>A c.560C>A (p.Ser187Tyr) | |
| 15 | g.67181289C= | CA2184414564 | SMAD3 | c.122C= (p.Ser41=) c.392C= (p.Ser131=) c.707C= (p.Ser236=) n.410C= c.575C= (p.Ser192=) n.282+6705C= c.560C= (p.Ser187=) | |
| 15 | g.67181289C>G | CA392955986 | SMAD3 | c.122C>G (p.Ser41Cys) c.392C>G (p.Ser131Cys) c.707C>G (p.Ser236Cys) n.410C>G c.575C>G (p.Ser192Cys) n.282+6705C>G c.560C>G (p.Ser187Cys) | |
| 15 | g.67181289C>T | CA392955987 | SMAD3 | c.122C>T (p.Ser41Phe) c.392C>T (p.Ser131Phe) c.707C>T (p.Ser236Phe) n.410C>T c.575C>T (p.Ser192Phe) n.282+6705C>T c.560C>T (p.Ser187Phe) | ClinVar dbSNP |
| 15 | g.67181289_67181292delinsCCTA | CA2184414566 | SMAD3 | c.122_125delinsCCTA (p.Ser41=) c.392_395delinsCCTA (p.Ser131=) c.707_710delinsCCTA (p.Ser236=) n.410_413delinsCCTA c.575_578delinsCCTA (p.Ser192=) n.282+6705_282+6708delinsCCTA c.560_563delinsCCTA (p.Ser187=) | |
| 15 | g.67181290C>A | CA490914538 | SMAD3 | c.123C>A (p.Ser41=) c.393C>A (p.Ser131=) c.708C>A (p.Ser236=) n.411C>A c.576C>A (p.Ser192=) n.282+6706C>A c.561C>A (p.Ser187=) | |
| 15 | g.67181290C= | CA2184414569 | SMAD3 | c.123C= (p.Ser41=) c.393C= (p.Ser131=) c.708C= (p.Ser236=) n.411C= c.576C= (p.Ser192=) n.282+6706C= c.561C= (p.Ser187=) | |
| 15 | g.67181290C>G | CA490914547 | SMAD3 | c.123C>G (p.Ser41=) c.393C>G (p.Ser131=) c.708C>G (p.Ser236=) n.411C>G c.576C>G (p.Ser192=) n.282+6706C>G c.561C>G (p.Ser187=) | |
| 15 | g.67181290C>T | CA062594 | SMAD3 | c.123C>T (p.Ser41=) c.393C>T (p.Ser131=) c.708C>T (p.Ser236=) n.411C>T c.576C>T (p.Ser192=) n.282+6706C>T c.561C>T (p.Ser187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.67181294_67181296del | CA323607 | SMAD3 | c.127_129del (p.Tyr43del) c.397_399del (p.Tyr133del) c.712_714del (p.Tyr238del) n.415_417del c.580_582del (p.Tyr194del) n.282+6710_282+6712del c.565_567del (p.Tyr189del) | ClinVar dbSNP |
| 15 | g.67181291T>A | CA392955990 | SMAD3 | c.124T>A (p.Tyr42Asn) c.394T>A (p.Tyr132Asn) c.709T>A (p.Tyr237Asn) n.412T>A c.577T>A (p.Tyr193Asn) n.282+6707T>A c.562T>A (p.Tyr188Asn) | |
| 15 | g.67181291T>C | CA392955992 | SMAD3 | c.124T>C (p.Tyr42His) c.394T>C (p.Tyr132His) c.709T>C (p.Tyr237His) n.412T>C c.577T>C (p.Tyr193His) n.282+6707T>C c.562T>C (p.Tyr188His) | |
| 15 | g.67181291T>G | CA392955994 | SMAD3 | c.124T>G (p.Tyr42Asp) c.394T>G (p.Tyr132Asp) c.709T>G (p.Tyr237Asp) n.412T>G c.577T>G (p.Tyr193Asp) n.282+6707T>G c.562T>G (p.Tyr188Asp) | |
| 15 | g.67181292A>C | CA392955995 | SMAD3 | c.125A>C (p.Tyr42Ser) c.395A>C (p.Tyr132Ser) c.710A>C (p.Tyr237Ser) n.413A>C c.578A>C (p.Tyr193Ser) n.282+6708A>C c.563A>C (p.Tyr188Ser) | |
| 15 | g.67181292A>G | CA392955996 | SMAD3 | c.125A>G (p.Tyr42Cys) c.395A>G (p.Tyr132Cys) c.710A>G (p.Tyr237Cys) n.413A>G c.578A>G (p.Tyr193Cys) n.282+6708A>G c.563A>G (p.Tyr188Cys) | COSMIC |
| 15 | g.67181292A>T | CA392955998 | SMAD3 | c.125A>T (p.Tyr42Phe) c.395A>T (p.Tyr132Phe) c.710A>T (p.Tyr237Phe) n.413A>T c.578A>T (p.Tyr193Phe) n.282+6708A>T c.563A>T (p.Tyr188Phe) | |
| 15 | g.67181293C>A | CA392956001 | SMAD3 | c.126C>A (p.Tyr42Ter) c.396C>A (p.Tyr132Ter) c.711C>A (p.Tyr237Ter) n.414C>A c.579C>A (p.Tyr193Ter) n.282+6709C>A c.564C>A (p.Tyr188Ter) | |
| 15 | g.67181293C>G | CA392956000 | SMAD3 | c.126C>G (p.Tyr42Ter) c.396C>G (p.Tyr132Ter) c.711C>G (p.Tyr237Ter) n.414C>G c.579C>G (p.Tyr193Ter) n.282+6709C>G c.564C>G (p.Tyr188Ter) | |
| 15 | g.67181293C>T | CA490914556 | SMAD3 | c.126C>T (p.Tyr42=) c.396C>T (p.Tyr132=) c.711C>T (p.Tyr237=) n.414C>T c.579C>T (p.Tyr193=) n.282+6709C>T c.564C>T (p.Tyr188=) | ClinVar dbSNP |
| 15 | g.67181294T>A | CA392956003 | SMAD3 | c.127T>A (p.Tyr43Asn) c.397T>A (p.Tyr133Asn) c.712T>A (p.Tyr238Asn) n.415T>A c.580T>A (p.Tyr194Asn) n.282+6710T>A c.565T>A (p.Tyr189Asn) | |
| 15 | g.67181294T>C | CA392956004 | SMAD3 | c.127T>C (p.Tyr43His) c.397T>C (p.Tyr133His) c.712T>C (p.Tyr238His) n.415T>C c.580T>C (p.Tyr194His) n.282+6710T>C c.565T>C (p.Tyr189His) | |
| 15 | g.67181294T>G | CA392956006 | SMAD3 | c.127T>G (p.Tyr43Asp) c.397T>G (p.Tyr133Asp) c.712T>G (p.Tyr238Asp) n.415T>G c.580T>G (p.Tyr194Asp) n.282+6710T>G c.565T>G (p.Tyr189Asp) | |
| 15 | g.67181295A>C | CA392956008 | SMAD3 | c.128A>C (p.Tyr43Ser) c.398A>C (p.Tyr133Ser) c.713A>C (p.Tyr238Ser) n.416A>C c.581A>C (p.Tyr194Ser) n.282+6711A>C c.566A>C (p.Tyr189Ser) | |
| 15 | g.67181295A>G | CA392956010 | SMAD3 | c.128A>G (p.Tyr43Cys) c.398A>G (p.Tyr133Cys) c.713A>G (p.Tyr238Cys) n.416A>G c.581A>G (p.Tyr194Cys) n.282+6711A>G c.566A>G (p.Tyr189Cys) | |
| 15 | g.67181295A>T | CA392956011 | SMAD3 | c.128A>T (p.Tyr43Phe) c.398A>T (p.Tyr133Phe) c.713A>T (p.Tyr238Phe) n.416A>T c.581A>T (p.Tyr194Phe) n.282+6711A>T c.566A>T (p.Tyr189Phe) | |
| 15 | g.67181296C>A | CA392956013 | SMAD3 | c.129C>A (p.Tyr43Ter) c.399C>A (p.Tyr133Ter) c.714C>A (p.Tyr238Ter) n.417C>A c.582C>A (p.Tyr194Ter) n.282+6712C>A c.567C>A (p.Tyr189Ter) | ClinVar |
| 15 | g.67181296C= | CA2184414577 | SMAD3 | c.129C= (p.Tyr43=) c.399C= (p.Tyr133=) c.714C= (p.Tyr238=) n.417C= c.582C= (p.Tyr194=) n.282+6712C= c.567C= (p.Tyr189=) | |
| 15 | g.67181296C>G | CA392956015 | SMAD3 | c.129C>G (p.Tyr43Ter) c.399C>G (p.Tyr133Ter) c.714C>G (p.Tyr238Ter) n.417C>G c.582C>G (p.Tyr194Ter) n.282+6712C>G c.567C>G (p.Tyr189Ter) | |
| 15 | g.67181296C>T | CA062600 | SMAD3 | c.129C>T (p.Tyr43=) c.399C>T (p.Tyr133=) c.714C>T (p.Tyr238=) n.417C>T c.582C>T (p.Tyr194=) n.282+6712C>T c.567C>T (p.Tyr189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67181297G>A | CA020100 | SMAD3 | c.130G>A (p.Glu44Lys) c.400G>A (p.Glu134Lys) c.715G>A (p.Glu239Lys) n.418G>A c.583G>A (p.Glu195Lys) n.282+6713G>A c.568G>A (p.Glu190Lys) | ClinVar dbSNP COSMIC COSMIC |
| 15 | g.67181297G>C | CA392956019 | SMAD3 | c.130G>C (p.Glu44Gln) c.400G>C (p.Glu134Gln) c.715G>C (p.Glu239Gln) n.418G>C c.583G>C (p.Glu195Gln) n.282+6713G>C c.568G>C (p.Glu190Gln) | |
| 15 | g.67181297G= | CA2184414586 | SMAD3 | c.130G= (p.Glu44=) c.400G= (p.Glu134=) c.715G= (p.Glu239=) n.418G= c.583G= (p.Glu195=) n.282+6713G= c.568G= (p.Glu190=) | |
| 15 | g.67181297G>T | CA392956020 | SMAD3 | c.130G>T (p.Glu44Ter) c.400G>T (p.Glu134Ter) c.715G>T (p.Glu239Ter) n.418G>T c.583G>T (p.Glu195Ter) n.282+6713G>T c.568G>T (p.Glu190Ter) | ClinVar dbSNP COSMIC COSMIC |