Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110812668C>A | CA378373141 | RBM20 | c.2271C>A (p.Asp757Glu) c.1887C>A (p.Asp629Glu) c.2106C>A (p.Asp702Glu) | |
10 | g.110812668C>G | CA378373143 | RBM20 | c.2271C>G (p.Asp757Glu) c.1887C>G (p.Asp629Glu) c.2106C>G (p.Asp702Glu) | |
10 | g.110812668C>T | CA471507335 | RBM20 | c.2271C>T (p.Asp757=) c.1887C>T (p.Asp629=) c.2106C>T (p.Asp702=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.110812669G>A | CA378373148 | RBM20 | c.2272G>A (p.Gly758Ser) c.1888G>A (p.Gly630Ser) c.2107G>A (p.Gly703Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812669G>C | CA378373146 | RBM20 | c.2272G>C (p.Gly758Arg) c.1888G>C (p.Gly630Arg) c.2107G>C (p.Gly703Arg) | gnomAD v4 |
10 | g.110812669G>T | CA378373144 | RBM20 | c.2272G>T (p.Gly758Cys) c.1888G>T (p.Gly630Cys) c.2107G>T (p.Gly703Cys) | gnomAD v4 |
10 | g.110812670G>A | CA378373149 | RBM20 | c.2273G>A (p.Gly758Asp) c.1889G>A (p.Gly630Asp) c.2108G>A (p.Gly703Asp) | |
10 | g.110812670G>C | CA378373151 | RBM20 | c.2273G>C (p.Gly758Ala) c.1889G>C (p.Gly630Ala) c.2108G>C (p.Gly703Ala) | gnomAD v4 |
10 | g.110812670G>T | CA378373152 | RBM20 | c.2273G>T (p.Gly758Val) c.1889G>T (p.Gly630Val) c.2108G>T (p.Gly703Val) | |
10 | g.110812671C>A | CA471507336 | RBM20 | c.2274C>A (p.Gly758=) c.1890C>A (p.Gly630=) c.2109C>A (p.Gly703=) | |
10 | g.110812671C>G | CA471507337 | RBM20 | c.2274C>G (p.Gly758=) c.1890C>G (p.Gly630=) c.2109C>G (p.Gly703=) | |
10 | g.110812671C>T | CA471507338 | RBM20 | c.2274C>T (p.Gly758=) c.1890C>T (p.Gly630=) c.2109C>T (p.Gly703=) | |
10 | g.110812672T>A | CA378373154 | RBM20 | c.2275T>A (p.Tyr759Asn) c.1891T>A (p.Tyr631Asn) c.2110T>A (p.Tyr704Asn) | |
10 | g.110812672T>C | CA378373156 | RBM20 | c.2275T>C (p.Tyr759His) c.1891T>C (p.Tyr631His) c.2110T>C (p.Tyr704His) | dbSNP |
10 | g.110812672T>G | CA378373158 | RBM20 | c.2275T>G (p.Tyr759Asp) c.1891T>G (p.Tyr631Asp) c.2110T>G (p.Tyr704Asp) | |
10 | g.110812673A>C | CA378373164 | RBM20 | c.2276A>C (p.Tyr759Ser) c.1892A>C (p.Tyr631Ser) c.2111A>C (p.Tyr704Ser) | |
10 | g.110812673A>G | CA378373161 | RBM20 | c.2276A>G (p.Tyr759Cys) c.1892A>G (p.Tyr631Cys) c.2111A>G (p.Tyr704Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812673A>T | CA378373162 | RBM20 | c.2276A>T (p.Tyr759Phe) c.1892A>T (p.Tyr631Phe) c.2111A>T (p.Tyr704Phe) | |
10 | g.110812674C>A | CA378373165 | RBM20 | c.2277C>A (p.Tyr759Ter) c.1893C>A (p.Tyr631Ter) c.2112C>A (p.Tyr704Ter) | |
10 | g.110812674C>G | CA378373166 | RBM20 | c.2277C>G (p.Tyr759Ter) c.1893C>G (p.Tyr631Ter) c.2112C>G (p.Tyr704Ter) | |
10 | g.110812674C>T | CA471507342 | RBM20 | c.2277C>T (p.Tyr759=) c.1893C>T (p.Tyr631=) c.2112C>T (p.Tyr704=) | |
10 | g.110812675T>A | CA378373168 | RBM20 | c.2278T>A (p.Tyr760Asn) c.1894T>A (p.Tyr632Asn) c.2113T>A (p.Tyr705Asn) | dbSNP gnomAD v4 |
10 | g.110812675T>C | CA378373170 | RBM20 | c.2278T>C (p.Tyr760His) c.1894T>C (p.Tyr632His) c.2113T>C (p.Tyr705His) | |
10 | g.110812675T>G | CA378373171 | RBM20 | c.2278T>G (p.Tyr760Asp) c.1894T>G (p.Tyr632Asp) c.2113T>G (p.Tyr705Asp) | |
10 | g.110812676A>C | CA378373176 | RBM20 | c.2279A>C (p.Tyr760Ser) c.1895A>C (p.Tyr632Ser) c.2114A>C (p.Tyr705Ser) | |
10 | g.110812676A>G | CA378373177 | RBM20 | c.2279A>G (p.Tyr760Cys) c.1895A>G (p.Tyr632Cys) c.2114A>G (p.Tyr705Cys) | |
10 | g.110812676A>T | CA378373178 | RBM20 | c.2279A>T (p.Tyr760Phe) c.1895A>T (p.Tyr632Phe) c.2114A>T (p.Tyr705Phe) | |
10 | g.110812677C>A | CA378373179 | RBM20 | c.2280C>A (p.Tyr760Ter) c.1896C>A (p.Tyr632Ter) c.2115C>A (p.Tyr705Ter) | |
10 | g.110812677C>G | CA378373180 | RBM20 | c.2280C>G (p.Tyr760Ter) c.1896C>G (p.Tyr632Ter) c.2115C>G (p.Tyr705Ter) | |
10 | g.110812677C>T | CA471507348 | RBM20 | c.2280C>T (p.Tyr760=) c.1896C>T (p.Tyr632=) c.2115C>T (p.Tyr705=) | |
10 | g.110812677_110812679dup | CA2497307631 | RBM20 | c.2280_2282dup (p.Arg761_Lys762insArg) c.1896_1898dup (p.Arg633_Lys634insArg) c.2115_2117dup (p.Arg706_Lys707insArg) | ClinVar dbSNP |
10 | g.110812678C>A | CA471507349 | RBM20 | c.2281C>A (p.Arg761=) c.1897C>A (p.Arg633=) c.2116C>A (p.Arg706=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812678C>G | CA378373182 | RBM20 | c.2281C>G (p.Arg761Gly) c.1897C>G (p.Arg633Gly) c.2116C>G (p.Arg706Gly) | |
10 | g.110812678C>T | CA5688677 | RBM20 | c.2281C>T (p.Arg761Trp) c.1897C>T (p.Arg633Trp) c.2116C>T (p.Arg706Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812679G>A | CA5688678 | RBM20 | c.2282G>A (p.Arg761Gln) c.1898G>A (p.Arg633Gln) c.2117G>A (p.Arg706Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812679G>C | CA378373188 | RBM20 | c.2282G>C (p.Arg761Pro) c.1898G>C (p.Arg633Pro) c.2117G>C (p.Arg706Pro) | |
10 | g.110812679G>T | CA378373186 | RBM20 | c.2282G>T (p.Arg761Leu) c.1898G>T (p.Arg633Leu) c.2117G>T (p.Arg706Leu) | dbSNP |
10 | g.110812680G>A | CA471507358 | RBM20 | c.2283G>A (p.Arg761=) c.1899G>A (p.Arg633=) c.2118G>A (p.Arg706=) | |
10 | g.110812680G>C | CA471507359 | RBM20 | c.2283G>C (p.Arg761=) c.1899G>C (p.Arg633=) c.2118G>C (p.Arg706=) | |
10 | g.110812680G>T | CA471507360 | RBM20 | c.2283G>T (p.Arg761=) c.1899G>T (p.Arg633=) c.2118G>T (p.Arg706=) | ClinVar dbSNP |
10 | g.110812682_110812685dup | CA2610892822 | RBM20 | c.2285_2288dup (p.Pro764ArgfsTer?) c.1901_1904dup (p.Pro636ArgfsTer?) c.2120_2123dup (p.Pro709ArgfsTer?) | gnomAD v4 |
10 | g.110812681A>C | CA378373190 | RBM20 | c.2284A>C (p.Lys762Gln) c.1900A>C (p.Lys634Gln) c.2119A>C (p.Lys707Gln) | |
10 | g.110812681A>G | CA378373191 | RBM20 | c.2284A>G (p.Lys762Glu) c.1900A>G (p.Lys634Glu) c.2119A>G (p.Lys707Glu) | ClinVar gnomAD v4 |
10 | g.110812681A>T | CA378373192 | RBM20 | c.2284A>T (p.Lys762Ter) c.1900A>T (p.Lys634Ter) c.2119A>T (p.Lys707Ter) | |
10 | g.110812683dup | CA10576771 | RBM20 | c.2286dup (p.Glu763ArgfsTer?) c.1902dup (p.Glu635ArgfsTer?) c.2121dup (p.Glu708ArgfsTer?) | ClinVar dbSNP |
10 | g.110812682A>C | CA378373193 | RBM20 | c.2285A>C (p.Lys762Thr) c.1901A>C (p.Lys634Thr) c.2120A>C (p.Lys707Thr) | |
10 | g.110812682A>G | CA378373195 | RBM20 | c.2285A>G (p.Lys762Arg) c.1901A>G (p.Lys634Arg) c.2120A>G (p.Lys707Arg) | |
10 | g.110812682A>T | CA378373196 | RBM20 | c.2285A>T (p.Lys762Ile) c.1901A>T (p.Lys634Ile) c.2120A>T (p.Lys707Ile) | |
10 | g.110812683A>C | CA378373198 | RBM20 | c.2286A>C (p.Lys762Asn) c.1902A>C (p.Lys634Asn) c.2121A>C (p.Lys707Asn) | |
10 | g.110812683A>G | CA471507365 | RBM20 | c.2286A>G (p.Lys762=) c.1902A>G (p.Lys634=) c.2121A>G (p.Lys707=) | ClinVar dbSNP gnomAD v4 |