UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.156901502del | CA2563391781 | ARID1B | c.2113del (p.Gln705SerfsTer?) c.127del (p.Gln43SerfsTer?) c.2152del (p.Gln718SerfsTer?) c.1864del (p.Gln622SerfsTer?) c.361del (p.Gln121SerfsTer?) n.176del c.394del (p.Gln132SerfsTer?) c.139del (p.Gln47SerfsTer?) c.330del c.1903del (p.Gln635SerfsTer?) n.820del c.1853del c.130del (p.Gln44SerfsTer?) c.772del (p.Gln258SerfsTer?) c.352del (p.Gln118SerfsTer?) n.1986del | dbSNP |
| 6 | g.156901502C>A | CA366380915 | ARID1B | c.2113C>A (p.Gln705Lys) c.127C>A (p.Gln43Lys) c.2152C>A (p.Gln718Lys) c.1864C>A (p.Gln622Lys) c.361C>A (p.Gln121Lys) n.176C>A c.394C>A (p.Gln132Lys) c.139C>A (p.Gln47Lys) c.330C>A c.1903C>A (p.Gln635Lys) n.820C>A c.1853C>A c.130C>A (p.Gln44Lys) c.772C>A (p.Gln258Lys) c.352C>A (p.Gln118Lys) n.1986C>A | |
| 6 | g.156901502C= | CA1675400808 | ARID1B | c.2113C= (p.Gln705=) c.127C= (p.Gln43=) c.2152C= (p.Gln718=) c.1864C= (p.Gln622=) c.361C= (p.Gln121=) n.176C= c.394C= (p.Gln132=) c.139C= (p.Gln47=) c.330C= c.1903C= (p.Gln635=) n.820C= c.1853C= c.130C= (p.Gln44=) c.772C= (p.Gln258=) c.352C= (p.Gln118=) n.1986C= | |
| 6 | g.156901502C>G | CA366380916 | ARID1B | c.2113C>G (p.Gln705Glu) c.127C>G (p.Gln43Glu) c.2152C>G (p.Gln718Glu) c.1864C>G (p.Gln622Glu) c.361C>G (p.Gln121Glu) n.176C>G c.394C>G (p.Gln132Glu) c.139C>G (p.Gln47Glu) c.330C>G c.1903C>G (p.Gln635Glu) n.820C>G c.1853C>G c.130C>G (p.Gln44Glu) c.772C>G (p.Gln258Glu) c.352C>G (p.Gln118Glu) n.1986C>G | |
| 6 | g.156901502C>T | CA129766 | ARID1B | c.2113C>T (p.Gln705Ter) c.127C>T (p.Gln43Ter) c.2152C>T (p.Gln718Ter) c.1864C>T (p.Gln622Ter) c.361C>T (p.Gln121Ter) n.176C>T c.394C>T (p.Gln132Ter) c.139C>T (p.Gln47Ter) c.330C>T c.1903C>T (p.Gln635Ter) n.820C>T c.1853C>T c.130C>T (p.Gln44Ter) c.772C>T (p.Gln258Ter) c.352C>T (p.Gln118Ter) n.1986C>T | ClinVar dbSNP |
| 6 | g.156901503A>C | CA366380919 | ARID1B | c.2114A>C (p.Gln705Pro) c.128A>C (p.Gln43Pro) c.2153A>C (p.Gln718Pro) c.1865A>C (p.Gln622Pro) c.362A>C (p.Gln121Pro) n.177A>C c.395A>C (p.Gln132Pro) c.140A>C (p.Gln47Pro) c.331A>C c.1904A>C (p.Gln635Pro) n.821A>C c.1854A>C c.131A>C (p.Gln44Pro) c.773A>C (p.Gln258Pro) c.353A>C (p.Gln118Pro) n.1987A>C | |
| 6 | g.156901503A>G | CA366380921 | ARID1B | c.2114A>G (p.Gln705Arg) c.128A>G (p.Gln43Arg) c.2153A>G (p.Gln718Arg) c.1865A>G (p.Gln622Arg) c.362A>G (p.Gln121Arg) n.177A>G c.395A>G (p.Gln132Arg) c.140A>G (p.Gln47Arg) c.331A>G c.1904A>G (p.Gln635Arg) n.821A>G c.1854A>G c.131A>G (p.Gln44Arg) c.773A>G (p.Gln258Arg) c.353A>G (p.Gln118Arg) n.1987A>G | |
| 6 | g.156901503A>T | CA366380922 | ARID1B | c.2114A>T (p.Gln705Leu) c.128A>T (p.Gln43Leu) c.2153A>T (p.Gln718Leu) c.1865A>T (p.Gln622Leu) c.362A>T (p.Gln121Leu) n.177A>T c.395A>T (p.Gln132Leu) c.140A>T (p.Gln47Leu) c.331A>T c.1904A>T (p.Gln635Leu) n.821A>T c.1854A>T c.131A>T (p.Gln44Leu) c.773A>T (p.Gln258Leu) c.353A>T (p.Gln118Leu) n.1987A>T | |
| 6 | g.156901504G>A | CA452935924 | ARID1B | c.2115G>A (p.Gln705=) c.129G>A (p.Gln43=) c.2154G>A (p.Gln718=) c.1866G>A (p.Gln622=) c.363G>A (p.Gln121=) n.178G>A c.396G>A (p.Gln132=) c.141G>A (p.Gln47=) c.332G>A c.1905G>A (p.Gln635=) n.822G>A c.1855G>A c.132G>A (p.Gln44=) c.774G>A (p.Gln258=) c.354G>A (p.Gln118=) n.1988G>A | |
| 6 | g.156901504G>C | CA366380923 | ARID1B | c.2115G>C (p.Gln705His) c.129G>C (p.Gln43His) c.2154G>C (p.Gln718His) c.1866G>C (p.Gln622His) c.363G>C (p.Gln121His) n.178G>C c.396G>C (p.Gln132His) c.141G>C (p.Gln47His) c.332G>C c.1905G>C (p.Gln635His) n.822G>C c.1855G>C c.132G>C (p.Gln44His) c.774G>C (p.Gln258His) c.354G>C (p.Gln118His) n.1988G>C | |
| 6 | g.156901504G>T | CA366380925 | ARID1B | c.2115G>T (p.Gln705His) c.129G>T (p.Gln43His) c.2154G>T (p.Gln718His) c.1866G>T (p.Gln622His) c.363G>T (p.Gln121His) n.178G>T c.396G>T (p.Gln132His) c.141G>T (p.Gln47His) c.332G>T c.1905G>T (p.Gln635His) n.822G>T c.1855G>T c.132G>T (p.Gln44His) c.774G>T (p.Gln258His) c.354G>T (p.Gln118His) n.1988G>T | |
| 6 | g.156901505C>A | CA366380927 | ARID1B | c.2116C>A (p.Gln706Lys) c.130C>A (p.Gln44Lys) c.2155C>A (p.Gln719Lys) c.1867C>A (p.Gln623Lys) c.364C>A (p.Gln122Lys) n.179C>A c.397C>A (p.Gln133Lys) c.142C>A (p.Gln48Lys) c.333C>A c.1906C>A (p.Gln636Lys) n.823C>A c.1856C>A c.133C>A (p.Gln45Lys) c.775C>A (p.Gln259Lys) c.355C>A (p.Gln119Lys) n.1989C>A | |
| 6 | g.156901505C>G | CA366380930 | ARID1B | c.2116C>G (p.Gln706Glu) c.130C>G (p.Gln44Glu) c.2155C>G (p.Gln719Glu) c.1867C>G (p.Gln623Glu) c.364C>G (p.Gln122Glu) n.179C>G c.397C>G (p.Gln133Glu) c.142C>G (p.Gln48Glu) c.333C>G c.1906C>G (p.Gln636Glu) n.823C>G c.1856C>G c.133C>G (p.Gln45Glu) c.775C>G (p.Gln259Glu) c.355C>G (p.Gln119Glu) n.1989C>G | |
| 6 | g.156901505C>T | CA366380928 | ARID1B | c.2116C>T (p.Gln706Ter) c.130C>T (p.Gln44Ter) c.2155C>T (p.Gln719Ter) c.1867C>T (p.Gln623Ter) c.364C>T (p.Gln122Ter) n.179C>T c.397C>T (p.Gln133Ter) c.142C>T (p.Gln48Ter) c.333C>T c.1906C>T (p.Gln636Ter) n.823C>T c.1856C>T c.133C>T (p.Gln45Ter) c.775C>T (p.Gln259Ter) c.355C>T (p.Gln119Ter) n.1989C>T | dbSNP |
| 6 | g.156901506A= | CA1675400809 | ARID1B | c.2117A= (p.Gln706=) c.131A= (p.Gln44=) c.2156A= (p.Gln719=) c.1868A= (p.Gln623=) c.365A= (p.Gln122=) n.180A= c.398A= (p.Gln133=) c.143A= (p.Gln48=) c.334A= c.1907A= (p.Gln636=) n.824A= c.1857A= c.134A= (p.Gln45=) c.776A= (p.Gln259=) c.356A= (p.Gln119=) n.1990A= | |
| 6 | g.156901506A>C | CA366380932 | ARID1B | c.2117A>C (p.Gln706Pro) c.131A>C (p.Gln44Pro) c.2156A>C (p.Gln719Pro) c.1868A>C (p.Gln623Pro) c.365A>C (p.Gln122Pro) n.180A>C c.398A>C (p.Gln133Pro) c.143A>C (p.Gln48Pro) c.334A>C c.1907A>C (p.Gln636Pro) n.824A>C c.1857A>C c.134A>C (p.Gln45Pro) c.776A>C (p.Gln259Pro) c.356A>C (p.Gln119Pro) n.1990A>C | |
| 6 | g.156901506A>G | CA4066930 | ARID1B | c.2117A>G (p.Gln706Arg) c.131A>G (p.Gln44Arg) c.2156A>G (p.Gln719Arg) c.1868A>G (p.Gln623Arg) c.365A>G (p.Gln122Arg) n.180A>G c.398A>G (p.Gln133Arg) c.143A>G (p.Gln48Arg) c.334A>G c.1907A>G (p.Gln636Arg) n.824A>G c.1857A>G c.134A>G (p.Gln45Arg) c.776A>G (p.Gln259Arg) c.356A>G (p.Gln119Arg) n.1990A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.156901506A>T | CA366380933 | ARID1B | c.2117A>T (p.Gln706Leu) c.131A>T (p.Gln44Leu) c.2156A>T (p.Gln719Leu) c.1868A>T (p.Gln623Leu) c.365A>T (p.Gln122Leu) n.180A>T c.398A>T (p.Gln133Leu) c.143A>T (p.Gln48Leu) c.334A>T c.1907A>T (p.Gln636Leu) n.824A>T c.1857A>T c.134A>T (p.Gln45Leu) c.776A>T (p.Gln259Leu) c.356A>T (p.Gln119Leu) n.1990A>T | |
| 6 | g.156901507G>A | CA452935935 | ARID1B | c.2118G>A (p.Gln706=) c.132G>A (p.Gln44=) c.2157G>A (p.Gln719=) c.1869G>A (p.Gln623=) c.366G>A (p.Gln122=) n.181G>A c.399G>A (p.Gln133=) c.144G>A (p.Gln48=) c.335G>A c.1908G>A (p.Gln636=) n.825G>A c.1858G>A c.135G>A (p.Gln45=) c.777G>A (p.Gln259=) c.357G>A (p.Gln119=) n.1991G>A | |
| 6 | g.156901507G>C | CA366380936 | ARID1B | c.2118G>C (p.Gln706His) c.132G>C (p.Gln44His) c.2157G>C (p.Gln719His) c.1869G>C (p.Gln623His) c.366G>C (p.Gln122His) n.181G>C c.399G>C (p.Gln133His) c.144G>C (p.Gln48His) c.335G>C c.1908G>C (p.Gln636His) n.825G>C c.1858G>C c.135G>C (p.Gln45His) c.777G>C (p.Gln259His) c.357G>C (p.Gln119His) n.1991G>C | |
| 6 | g.156901507G>T | CA366380938 | ARID1B | c.2118G>T (p.Gln706His) c.132G>T (p.Gln44His) c.2157G>T (p.Gln719His) c.1869G>T (p.Gln623His) c.366G>T (p.Gln122His) n.181G>T c.399G>T (p.Gln133His) c.144G>T (p.Gln48His) c.335G>T c.1908G>T (p.Gln636His) n.825G>T c.1858G>T c.135G>T (p.Gln45His) c.777G>T (p.Gln259His) c.357G>T (p.Gln119His) n.1991G>T | dbSNP |
| 6 | g.156901508A>C | CA452935942 | ARID1B | c.2119A>C (p.Arg707=) c.133A>C (p.Arg45=) c.2158A>C (p.Arg720=) c.1870A>C (p.Arg624=) c.367A>C (p.Arg123=) n.182A>C c.400A>C (p.Arg134=) c.145A>C (p.Arg49=) c.336A>C c.1909A>C (p.Arg637=) n.826A>C c.1859A>C c.136A>C (p.Arg46=) c.778A>C (p.Arg260=) c.358A>C (p.Arg120=) n.1992A>C | |
| 6 | g.156901508A>G | CA366380939 | ARID1B | c.2119A>G (p.Arg707Gly) c.133A>G (p.Arg45Gly) c.2158A>G (p.Arg720Gly) c.1870A>G (p.Arg624Gly) c.367A>G (p.Arg123Gly) n.182A>G c.400A>G (p.Arg134Gly) c.145A>G (p.Arg49Gly) c.336A>G c.1909A>G (p.Arg637Gly) n.826A>G c.1859A>G c.136A>G (p.Arg46Gly) c.778A>G (p.Arg260Gly) c.358A>G (p.Arg120Gly) n.1992A>G | dbSNP |
| 6 | g.156901508A>T | CA366380941 | ARID1B | c.2119A>T (p.Arg707Trp) c.133A>T (p.Arg45Trp) c.2158A>T (p.Arg720Trp) c.1870A>T (p.Arg624Trp) c.367A>T (p.Arg123Trp) n.182A>T c.400A>T (p.Arg134Trp) c.145A>T (p.Arg49Trp) c.336A>T c.1909A>T (p.Arg637Trp) n.826A>T c.1859A>T c.136A>T (p.Arg46Trp) c.778A>T (p.Arg260Trp) c.358A>T (p.Arg120Trp) n.1992A>T | |
| 6 | g.156901509G>A | CA366380943 | ARID1B | c.2120G>A (p.Arg707Lys) c.134G>A (p.Arg45Lys) c.2159G>A (p.Arg720Lys) c.1871G>A (p.Arg624Lys) c.368G>A (p.Arg123Lys) n.183G>A c.401G>A (p.Arg134Lys) c.146G>A (p.Arg49Lys) c.337G>A c.1910G>A (p.Arg637Lys) n.827G>A c.1860G>A c.137G>A (p.Arg46Lys) c.779G>A (p.Arg260Lys) c.359G>A (p.Arg120Lys) n.1993G>A | |
| 6 | g.156901509G>C | CA366380945 | ARID1B | c.2120G>C (p.Arg707Thr) c.134G>C (p.Arg45Thr) c.2159G>C (p.Arg720Thr) c.1871G>C (p.Arg624Thr) c.368G>C (p.Arg123Thr) n.183G>C c.401G>C (p.Arg134Thr) c.146G>C (p.Arg49Thr) c.337G>C c.1910G>C (p.Arg637Thr) n.827G>C c.1860G>C c.137G>C (p.Arg46Thr) c.779G>C (p.Arg260Thr) c.359G>C (p.Arg120Thr) n.1993G>C | |
| 6 | g.156901509G>T | CA366380946 | ARID1B | c.2120G>T (p.Arg707Met) c.134G>T (p.Arg45Met) c.2159G>T (p.Arg720Met) c.1871G>T (p.Arg624Met) c.368G>T (p.Arg123Met) n.183G>T c.401G>T (p.Arg134Met) c.146G>T (p.Arg49Met) c.337G>T c.1910G>T (p.Arg637Met) n.827G>T c.1860G>T c.137G>T (p.Arg46Met) c.779G>T (p.Arg260Met) c.359G>T (p.Arg120Met) n.1993G>T | |
| 6 | g.156901509_156901510del | CA2695207171 | ARID1B | c.2120_2121del (p.Arg707IlefsTer15) c.134_135del (p.Arg45IlefsTer15) c.2159_2160del (p.Arg720IlefsTer15) c.1871_1872del (p.Arg624IlefsTer15) c.368_369del (p.Arg123IlefsTer15) n.183_184del c.401_402del (p.Arg134IlefsTer15) c.146_147del (p.Arg49IlefsTer15) c.337_338del c.1910_1911del (p.Arg637IlefsTer15) n.827_828del c.1860_1861del c.137_138del (p.Arg46IlefsTer15) c.779_780del (p.Arg260IlefsTer15) c.359_360del (p.Arg120IlefsTer15) n.1993_1994del | |
| 6 | g.156901510G>A | CA452935946 | ARID1B | c.2121G>A (p.Arg707=) c.135G>A (p.Arg45=) c.2160G>A (p.Arg720=) c.1872G>A (p.Arg624=) c.369G>A (p.Arg123=) n.184G>A c.402G>A (p.Arg134=) c.147G>A (p.Arg49=) c.338G>A c.1911G>A (p.Arg637=) n.828G>A c.1861G>A c.138G>A (p.Arg46=) c.780G>A (p.Arg260=) c.360G>A (p.Arg120=) n.1994G>A | dbSNP |
| 6 | g.156901510G>C | CA366380949 | ARID1B | c.2121G>C (p.Arg707Ser) c.135G>C (p.Arg45Ser) c.2160G>C (p.Arg720Ser) c.1872G>C (p.Arg624Ser) c.369G>C (p.Arg123Ser) n.184G>C c.402G>C (p.Arg134Ser) c.147G>C (p.Arg49Ser) c.338G>C c.1911G>C (p.Arg637Ser) n.828G>C c.1861G>C c.138G>C (p.Arg46Ser) c.780G>C (p.Arg260Ser) c.360G>C (p.Arg120Ser) n.1994G>C | |
| 6 | g.156901510G>T | CA366380951 | ARID1B | c.2121G>T (p.Arg707Ser) c.135G>T (p.Arg45Ser) c.2160G>T (p.Arg720Ser) c.1872G>T (p.Arg624Ser) c.369G>T (p.Arg123Ser) n.184G>T c.402G>T (p.Arg134Ser) c.147G>T (p.Arg49Ser) c.338G>T c.1911G>T (p.Arg637Ser) n.828G>T c.1861G>T c.138G>T (p.Arg46Ser) c.780G>T (p.Arg260Ser) c.360G>T (p.Arg120Ser) n.1994G>T | |
| 6 | g.156901511T>A | CA366380957 | ARID1B | c.2122T>A (p.Tyr708Asn) c.136T>A (p.Tyr46Asn) c.2161T>A (p.Tyr721Asn) c.1873T>A (p.Tyr625Asn) c.370T>A (p.Tyr124Asn) n.185T>A c.403T>A (p.Tyr135Asn) c.148T>A (p.Tyr50Asn) c.339T>A c.1912T>A (p.Tyr638Asn) n.829T>A c.1862T>A c.139T>A (p.Tyr47Asn) c.781T>A (p.Tyr261Asn) c.361T>A (p.Tyr121Asn) n.1995T>A | |
| 6 | g.156901511T>C | CA366380953 | ARID1B | c.2122T>C (p.Tyr708His) c.136T>C (p.Tyr46His) c.2161T>C (p.Tyr721His) c.1873T>C (p.Tyr625His) c.370T>C (p.Tyr124His) n.185T>C c.403T>C (p.Tyr135His) c.148T>C (p.Tyr50His) c.339T>C c.1912T>C (p.Tyr638His) n.829T>C c.1862T>C c.139T>C (p.Tyr47His) c.781T>C (p.Tyr261His) c.361T>C (p.Tyr121His) n.1995T>C | |
| 6 | g.156901511T>G | CA366380955 | ARID1B | c.2122T>G (p.Tyr708Asp) c.136T>G (p.Tyr46Asp) c.2161T>G (p.Tyr721Asp) c.1873T>G (p.Tyr625Asp) c.370T>G (p.Tyr124Asp) n.185T>G c.403T>G (p.Tyr135Asp) c.148T>G (p.Tyr50Asp) c.339T>G c.1912T>G (p.Tyr638Asp) n.829T>G c.1862T>G c.139T>G (p.Tyr47Asp) c.781T>G (p.Tyr261Asp) c.361T>G (p.Tyr121Asp) n.1995T>G | |
| 6 | g.156901512A= | CA1675400810 | ARID1B | c.2123A= (p.Tyr708=) c.137A= (p.Tyr46=) c.2162A= (p.Tyr721=) c.1874A= (p.Tyr625=) c.371A= (p.Tyr124=) n.186A= c.404A= (p.Tyr135=) c.149A= (p.Tyr50=) c.340A= c.1913A= (p.Tyr638=) n.830A= c.1863A= c.140A= (p.Tyr47=) c.782A= (p.Tyr261=) c.362A= (p.Tyr121=) n.1996A= | |
| 6 | g.156901512A>C | CA4066931 | ARID1B | c.2123A>C (p.Tyr708Ser) c.137A>C (p.Tyr46Ser) c.2162A>C (p.Tyr721Ser) c.1874A>C (p.Tyr625Ser) c.371A>C (p.Tyr124Ser) n.186A>C c.404A>C (p.Tyr135Ser) c.149A>C (p.Tyr50Ser) c.340A>C c.1913A>C (p.Tyr638Ser) n.830A>C c.1863A>C c.140A>C (p.Tyr47Ser) c.782A>C (p.Tyr261Ser) c.362A>C (p.Tyr121Ser) n.1996A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.156901512A>G | CA366380959 | ARID1B | c.2123A>G (p.Tyr708Cys) c.137A>G (p.Tyr46Cys) c.2162A>G (p.Tyr721Cys) c.1874A>G (p.Tyr625Cys) c.371A>G (p.Tyr124Cys) n.186A>G c.404A>G (p.Tyr135Cys) c.149A>G (p.Tyr50Cys) c.340A>G c.1913A>G (p.Tyr638Cys) n.830A>G c.1863A>G c.140A>G (p.Tyr47Cys) c.782A>G (p.Tyr261Cys) c.362A>G (p.Tyr121Cys) n.1996A>G | |
| 6 | g.156901512A>T | CA4066932 | ARID1B | c.2123A>T (p.Tyr708Phe) c.137A>T (p.Tyr46Phe) c.2162A>T (p.Tyr721Phe) c.1874A>T (p.Tyr625Phe) c.371A>T (p.Tyr124Phe) n.186A>T c.404A>T (p.Tyr135Phe) c.149A>T (p.Tyr50Phe) c.340A>T c.1913A>T (p.Tyr638Phe) n.830A>T c.1863A>T c.140A>T (p.Tyr47Phe) c.782A>T (p.Tyr261Phe) c.362A>T (p.Tyr121Phe) n.1996A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.156901513C>A | CA366380962 | ARID1B | c.2124C>A (p.Tyr708Ter) c.138C>A (p.Tyr46Ter) c.2163C>A (p.Tyr721Ter) c.1875C>A (p.Tyr625Ter) c.372C>A (p.Tyr124Ter) n.187C>A c.405C>A (p.Tyr135Ter) c.150C>A (p.Tyr50Ter) c.341C>A c.1914C>A (p.Tyr638Ter) n.831C>A c.1864C>A c.141C>A (p.Tyr47Ter) c.783C>A (p.Tyr261Ter) c.363C>A (p.Tyr121Ter) n.1997C>A | ClinVar dbSNP |
| 6 | g.156901513C= | CA1675400811 | ARID1B | c.2124C= (p.Tyr708=) c.138C= (p.Tyr46=) c.2163C= (p.Tyr721=) c.1875C= (p.Tyr625=) c.372C= (p.Tyr124=) n.187C= c.405C= (p.Tyr135=) c.150C= (p.Tyr50=) c.341C= c.1914C= (p.Tyr638=) n.831C= c.1864C= c.141C= (p.Tyr47=) c.783C= (p.Tyr261=) c.363C= (p.Tyr121=) n.1997C= | |
| 6 | g.156901513C>G | CA366380963 | ARID1B | c.2124C>G (p.Tyr708Ter) c.138C>G (p.Tyr46Ter) c.2163C>G (p.Tyr721Ter) c.1875C>G (p.Tyr625Ter) c.372C>G (p.Tyr124Ter) n.187C>G c.405C>G (p.Tyr135Ter) c.150C>G (p.Tyr50Ter) c.341C>G c.1914C>G (p.Tyr638Ter) n.831C>G c.1864C>G c.141C>G (p.Tyr47Ter) c.783C>G (p.Tyr261Ter) c.363C>G (p.Tyr121Ter) n.1997C>G | |
| 6 | g.156901513C>T | CA4066933 | ARID1B | c.2124C>T (p.Tyr708=) c.138C>T (p.Tyr46=) c.2163C>T (p.Tyr721=) c.1875C>T (p.Tyr625=) c.372C>T (p.Tyr124=) n.187C>T c.405C>T (p.Tyr135=) c.150C>T (p.Tyr50=) c.341C>T c.1914C>T (p.Tyr638=) n.831C>T c.1864C>T c.141C>T (p.Tyr47=) c.783C>T (p.Tyr261=) c.363C>T (p.Tyr121=) n.1997C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.156901514C>A | CA366380966 | ARID1B | c.2125C>A (p.Gln709Lys) c.139C>A (p.Gln47Lys) c.2164C>A (p.Gln722Lys) c.1876C>A (p.Gln626Lys) c.373C>A (p.Gln125Lys) n.188C>A c.406C>A (p.Gln136Lys) c.151C>A (p.Gln51Lys) c.342C>A c.1915C>A (p.Gln639Lys) n.832C>A c.1865C>A c.142C>A (p.Gln48Lys) c.784C>A (p.Gln262Lys) c.364C>A (p.Gln122Lys) n.1998C>A | |
| 6 | g.156901514C>G | CA366380968 | ARID1B | c.2125C>G (p.Gln709Glu) c.139C>G (p.Gln47Glu) c.2164C>G (p.Gln722Glu) c.1876C>G (p.Gln626Glu) c.373C>G (p.Gln125Glu) n.188C>G c.406C>G (p.Gln136Glu) c.151C>G (p.Gln51Glu) c.342C>G c.1915C>G (p.Gln639Glu) n.832C>G c.1865C>G c.142C>G (p.Gln48Glu) c.784C>G (p.Gln262Glu) c.364C>G (p.Gln122Glu) n.1998C>G | |
| 6 | g.156901514C>T | CA366380970 | ARID1B | c.2125C>T (p.Gln709Ter) c.139C>T (p.Gln47Ter) c.2164C>T (p.Gln722Ter) c.1876C>T (p.Gln626Ter) c.373C>T (p.Gln125Ter) n.188C>T c.406C>T (p.Gln136Ter) c.151C>T (p.Gln51Ter) c.342C>T c.1915C>T (p.Gln639Ter) n.832C>T c.1865C>T c.142C>T (p.Gln48Ter) c.784C>T (p.Gln262Ter) c.364C>T (p.Gln122Ter) n.1998C>T | dbSNP |
| 6 | g.156901515A>C | CA366380972 | ARID1B | c.2126A>C (p.Gln709Pro) c.140A>C (p.Gln47Pro) c.2165A>C (p.Gln722Pro) c.1877A>C (p.Gln626Pro) c.374A>C (p.Gln125Pro) n.189A>C c.407A>C (p.Gln136Pro) c.152A>C (p.Gln51Pro) c.343A>C c.1916A>C (p.Gln639Pro) n.833A>C c.1866A>C c.143A>C (p.Gln48Pro) c.785A>C (p.Gln262Pro) c.365A>C (p.Gln122Pro) n.1999A>C | |
| 6 | g.156901515A>G | CA366380974 | ARID1B | c.2126A>G (p.Gln709Arg) c.140A>G (p.Gln47Arg) c.2165A>G (p.Gln722Arg) c.1877A>G (p.Gln626Arg) c.374A>G (p.Gln125Arg) n.189A>G c.407A>G (p.Gln136Arg) c.152A>G (p.Gln51Arg) c.343A>G c.1916A>G (p.Gln639Arg) n.833A>G c.1866A>G c.143A>G (p.Gln48Arg) c.785A>G (p.Gln262Arg) c.365A>G (p.Gln122Arg) n.1999A>G | |
| 6 | g.156901515A>T | CA366380976 | ARID1B | c.2126A>T (p.Gln709Leu) c.140A>T (p.Gln47Leu) c.2165A>T (p.Gln722Leu) c.1877A>T (p.Gln626Leu) c.374A>T (p.Gln125Leu) n.189A>T c.407A>T (p.Gln136Leu) c.152A>T (p.Gln51Leu) c.343A>T c.1916A>T (p.Gln639Leu) n.833A>T c.1866A>T c.143A>T (p.Gln48Leu) c.785A>T (p.Gln262Leu) c.365A>T (p.Gln122Leu) n.1999A>T | ClinVar |
| 6 | g.156901515_156901516delinsGC | CA2580075253 | ARID1B | c.2126_2127delinsGC (p.Gln709Arg) c.140_141delinsGC (p.Gln47Arg) c.2165_2166delinsGC (p.Gln722Arg) c.1877_1878delinsGC (p.Gln626Arg) c.374_375delinsGC (p.Gln125Arg) n.189_190delinsGC c.407_408delinsGC (p.Gln136Arg) c.152_153delinsGC (p.Gln51Arg) c.343_344delinsGC c.1916_1917delinsGC (p.Gln639Arg) n.833_834delinsGC c.1866_1867delinsGC c.143_144delinsGC (p.Gln48Arg) c.785_786delinsGC (p.Gln262Arg) c.365_366delinsGC (p.Gln122Arg) n.1999_2000delinsGC | ClinVar |
| 6 | g.156901516G>A | CA452935971 | ARID1B | c.2127G>A (p.Gln709=) c.141G>A (p.Gln47=) c.2166G>A (p.Gln722=) c.1878G>A (p.Gln626=) c.375G>A (p.Gln125=) n.190G>A c.408G>A (p.Gln136=) c.153G>A (p.Gln51=) c.344G>A c.1917G>A (p.Gln639=) n.834G>A c.1867G>A c.144G>A (p.Gln48=) c.786G>A (p.Gln262=) c.366G>A (p.Gln122=) n.2000G>A | dbSNP |