Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.218584682C>A | CA350569142 | CNOT9 | c.391C>A (p.Pro131Thr) n.695+1596C>A c.232C>A (p.Pro78Thr) c.229C>A (p.Pro77Thr) n.436+1596C>A | |
2 | g.218584682C= | CA1328827424 | CNOT9 | c.391C= (p.Pro131=) n.695+1596C= c.232C= (p.Pro78=) c.229C= (p.Pro77=) n.436+1596C= | |
2 | g.218584682C>G | CA350569143 | CNOT9 | c.391C>G (p.Pro131Ala) n.695+1596C>G c.232C>G (p.Pro78Ala) c.229C>G (p.Pro77Ala) n.436+1596C>G | |
2 | g.218584682C>T | CA16602954 | CNOT9 | c.391C>T (p.Pro131Ser) n.695+1596C>T c.232C>T (p.Pro78Ser) c.229C>T (p.Pro77Ser) n.436+1596C>T | ClinVar dbSNP COSMIC |
2 | g.218584682_218584683delinsTT | CA645517062 | CNOT9 | c.391_392delinsTT (p.Pro131Phe) n.695+1596_695+1597delinsTT c.232_233delinsTT (p.Pro78Phe) c.229_230delinsTT (p.Pro77Phe) n.436+1596_436+1597delinsTT | COSMIC |
2 | g.218584683C>A | CA350569144 | CNOT9 | c.392C>A (p.Pro131His) n.695+1597C>A c.233C>A (p.Pro78His) c.230C>A (p.Pro77His) n.436+1597C>A | |
2 | g.218584683C= | CA1328827425 | CNOT9 | c.392C= (p.Pro131=) n.695+1597C= c.233C= (p.Pro78=) c.230C= (p.Pro77=) n.436+1597C= | |
2 | g.218584683C>G | CA350569145 | CNOT9 | c.392C>G (p.Pro131Arg) n.695+1597C>G c.233C>G (p.Pro78Arg) c.230C>G (p.Pro77Arg) n.436+1597C>G | |
2 | g.218584683C>T | CA16602256 | CNOT9 | c.392C>T (p.Pro131Leu) n.695+1597C>T c.233C>T (p.Pro78Leu) c.230C>T (p.Pro77Leu) n.436+1597C>T | ClinVar dbSNP COSMIC |
2 | g.218584683_218584684delinsTT | CA645517063 | CNOT9 | c.392_393delinsTT (p.Pro131Leu) n.695+1597_695+1598delinsTT c.233_234delinsTT (p.Pro78Leu) c.230_231delinsTT (p.Pro77Leu) n.436+1597_436+1598delinsTT | COSMIC |
2 | g.218584684C>A | CA431228461 | CNOT9 | c.393C>A (p.Pro131=) n.695+1598C>A c.234C>A (p.Pro78=) c.231C>A (p.Pro77=) n.436+1598C>A | |
2 | g.218584684C>G | CA431228462 | CNOT9 | c.393C>G (p.Pro131=) n.695+1598C>G c.234C>G (p.Pro78=) c.231C>G (p.Pro77=) n.436+1598C>G | |
2 | g.218584684C>T | CA431228463 | CNOT9 | c.393C>T (p.Pro131=) n.695+1598C>T c.234C>T (p.Pro78=) c.231C>T (p.Pro77=) n.436+1598C>T | gnomAD v4 |
2 | g.218584685T>A | CA350569146 | CNOT9 | c.394T>A (p.Phe132Ile) n.695+1599T>A c.235T>A (p.Phe79Ile) c.232T>A (p.Phe78Ile) n.436+1599T>A | |
2 | g.218584685T>C | CA350569147 | CNOT9 | c.394T>C (p.Phe132Leu) n.695+1599T>C c.235T>C (p.Phe79Leu) c.232T>C (p.Phe78Leu) n.436+1599T>C | |
2 | g.218584685T>G | CA350569148 | CNOT9 | c.394T>G (p.Phe132Val) n.695+1599T>G c.235T>G (p.Phe79Val) c.232T>G (p.Phe78Val) n.436+1599T>G | |
2 | g.218584686T>A | CA350569151 | CNOT9 | c.395T>A (p.Phe132Tyr) n.695+1600T>A c.236T>A (p.Phe79Tyr) c.233T>A (p.Phe78Tyr) n.436+1600T>A | |
2 | g.218584686T>C | CA350569149 | CNOT9 | c.395T>C (p.Phe132Ser) n.695+1600T>C c.236T>C (p.Phe79Ser) c.233T>C (p.Phe78Ser) n.436+1600T>C | |
2 | g.218584686T>G | CA350569150 | CNOT9 | c.395T>G (p.Phe132Cys) n.695+1600T>G c.236T>G (p.Phe79Cys) c.233T>G (p.Phe78Cys) n.436+1600T>G | |
2 | g.218584687T>A | CA350569152 | CNOT9 | c.396T>A (p.Phe132Leu) n.695+1601T>A c.237T>A (p.Phe79Leu) c.234T>A (p.Phe78Leu) n.436+1601T>A | |
2 | g.218584687T>C | CA431228464 | CNOT9 | c.396T>C (p.Phe132=) n.695+1601T>C c.237T>C (p.Phe79=) c.234T>C (p.Phe78=) n.436+1601T>C | |
2 | g.218584687T>G | CA350569153 | CNOT9 | c.396T>G (p.Phe132Leu) n.695+1601T>G c.237T>G (p.Phe79Leu) c.234T>G (p.Phe78Leu) n.436+1601T>G | |
2 | g.218584688G>A | CA350569154 | CNOT9 | c.397G>A (p.Glu133Lys) n.695+1602G>A c.238G>A (p.Glu80Lys) c.235G>A (p.Glu79Lys) n.436+1602G>A | |
2 | g.218584688G>C | CA350569156 | CNOT9 | c.397G>C (p.Glu133Gln) n.695+1602G>C c.238G>C (p.Glu80Gln) c.235G>C (p.Glu79Gln) n.436+1602G>C | |
2 | g.218584688G>T | CA350569155 | CNOT9 | c.397G>T (p.Glu133Ter) n.695+1602G>T c.238G>T (p.Glu80Ter) c.235G>T (p.Glu79Ter) n.436+1602G>T | |
2 | g.218584689A>C | CA350569157 | CNOT9 | c.398A>C (p.Glu133Ala) n.695+1603A>C c.239A>C (p.Glu80Ala) c.236A>C (p.Glu79Ala) n.436+1603A>C | |
2 | g.218584689A>G | CA350569159 | CNOT9 | c.398A>G (p.Glu133Gly) n.695+1603A>G c.239A>G (p.Glu80Gly) c.236A>G (p.Glu79Gly) n.436+1603A>G | |
2 | g.218584689A>T | CA350569158 | CNOT9 | c.398A>T (p.Glu133Val) n.695+1603A>T c.239A>T (p.Glu80Val) c.236A>T (p.Glu79Val) n.436+1603A>T | |
2 | g.218584690G>A | CA431228465 | CNOT9 | c.399G>A (p.Glu133=) n.695+1604G>A c.240G>A (p.Glu80=) c.237G>A (p.Glu79=) n.436+1604G>A | gnomAD v4 |
2 | g.218584690G>C | CA350569160 | CNOT9 | c.399G>C (p.Glu133Asp) n.695+1604G>C c.240G>C (p.Glu80Asp) c.237G>C (p.Glu79Asp) n.436+1604G>C | gnomAD v4 |
2 | g.218584690G>T | CA350569161 | CNOT9 | c.399G>T (p.Glu133Asp) n.695+1604G>T c.240G>T (p.Glu80Asp) c.237G>T (p.Glu79Asp) n.436+1604G>T | |
2 | g.218584691T>A | CA350569162 | CNOT9 | c.400T>A (p.Tyr134Asn) n.695+1605T>A c.241T>A (p.Tyr81Asn) c.238T>A (p.Tyr80Asn) n.436+1605T>A | |
2 | g.218584691T>C | CA350569163 | CNOT9 | c.400T>C (p.Tyr134His) n.695+1605T>C c.241T>C (p.Tyr81His) c.238T>C (p.Tyr80His) n.436+1605T>C | |
2 | g.218584691T>G | CA350569164 | CNOT9 | c.400T>G (p.Tyr134Asp) n.695+1605T>G c.241T>G (p.Tyr81Asp) c.238T>G (p.Tyr80Asp) n.436+1605T>G | |
2 | g.218584692A>C | CA350569165 | CNOT9 | c.401A>C (p.Tyr134Ser) n.695+1606A>C c.242A>C (p.Tyr81Ser) c.239A>C (p.Tyr80Ser) n.436+1606A>C | |
2 | g.218584692A>G | CA350569166 | CNOT9 | c.401A>G (p.Tyr134Cys) n.695+1606A>G c.242A>G (p.Tyr81Cys) c.239A>G (p.Tyr80Cys) n.436+1606A>G | |
2 | g.218584692A>T | CA350569167 | CNOT9 | c.401A>T (p.Tyr134Phe) n.695+1606A>T c.242A>T (p.Tyr81Phe) c.239A>T (p.Tyr80Phe) n.436+1606A>T | |
2 | g.218584693T>A | CA350569168 | CNOT9 | c.402T>A (p.Tyr134Ter) n.695+1607T>A c.243T>A (p.Tyr81Ter) c.240T>A (p.Tyr80Ter) n.436+1607T>A | |
2 | g.218584693T>C | CA431228466 | CNOT9 | c.402T>C (p.Tyr134=) n.695+1607T>C c.243T>C (p.Tyr81=) c.240T>C (p.Tyr80=) n.436+1607T>C | dbSNP gnomAD v4 |
2 | g.218584693T>G | CA350569169 | CNOT9 | c.402T>G (p.Tyr134Ter) n.695+1607T>G c.243T>G (p.Tyr81Ter) c.240T>G (p.Tyr80Ter) n.436+1607T>G | |
2 | g.218584693T= | CA1328827426 | CNOT9 | c.402T= (p.Tyr134=) n.695+1607T= c.243T= (p.Tyr81=) c.240T= (p.Tyr80=) n.436+1607T= | |
2 | g.218584694C>A | CA350569172 | CNOT9 | c.403C>A (p.Leu135Ile) n.695+1608C>A c.244C>A (p.Leu82Ile) c.241C>A (p.Leu81Ile) n.436+1608C>A | |
2 | g.218584694C>G | CA350569171 | CNOT9 | c.403C>G (p.Leu135Val) n.695+1608C>G c.244C>G (p.Leu82Val) c.241C>G (p.Leu81Val) n.436+1608C>G | |
2 | g.218584694C>T | CA350569170 | CNOT9 | c.403C>T (p.Leu135Phe) n.695+1608C>T c.244C>T (p.Leu82Phe) c.241C>T (p.Leu81Phe) n.436+1608C>T | |
2 | g.218584695T>A | CA350569173 | CNOT9 | c.404T>A (p.Leu135His) n.695+1609T>A c.245T>A (p.Leu82His) c.242T>A (p.Leu81His) n.436+1609T>A | |
2 | g.218584695T>C | CA350569174 | CNOT9 | c.404T>C (p.Leu135Pro) n.695+1609T>C c.245T>C (p.Leu82Pro) c.242T>C (p.Leu81Pro) n.436+1609T>C | |
2 | g.218584695T>G | CA350569175 | CNOT9 | c.404T>G (p.Leu135Arg) n.695+1609T>G c.245T>G (p.Leu82Arg) c.242T>G (p.Leu81Arg) n.436+1609T>G | |
2 | g.218584696C>A | CA431228467 | CNOT9 | c.405C>A (p.Leu135=) n.695+1610C>A c.246C>A (p.Leu82=) c.243C>A (p.Leu81=) n.436+1610C>A | |
2 | g.218584696C= | CA1328827427 | CNOT9 | c.405C= (p.Leu135=) n.695+1610C= c.246C= (p.Leu82=) c.243C= (p.Leu81=) n.436+1610C= | |
2 | g.218584696C>G | CA431228468 | CNOT9 | c.405C>G (p.Leu135=) n.695+1610C>G c.246C>G (p.Leu82=) c.243C>G (p.Leu81=) n.436+1610C>G | dbSNP gnomAD v2 gnomAD v4 |