Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.218584682C>ACA350569142CNOT9c.391C>A (p.Pro131Thr)
n.695+1596C>A
c.232C>A (p.Pro78Thr)
c.229C>A (p.Pro77Thr)
n.436+1596C>A
2g.218584682C=CA1328827424CNOT9c.391C= (p.Pro131=)
n.695+1596C=
c.232C= (p.Pro78=)
c.229C= (p.Pro77=)
n.436+1596C=
2g.218584682C>GCA350569143CNOT9c.391C>G (p.Pro131Ala)
n.695+1596C>G
c.232C>G (p.Pro78Ala)
c.229C>G (p.Pro77Ala)
n.436+1596C>G
2g.218584682C>TCA16602954CNOT9c.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
2g.218584682_218584683delinsTTCA645517062CNOT9c.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
2g.218584683C>ACA350569144CNOT9c.392C>A (p.Pro131His)
n.695+1597C>A
c.233C>A (p.Pro78His)
c.230C>A (p.Pro77His)
n.436+1597C>A
2g.218584683C=CA1328827425CNOT9c.392C= (p.Pro131=)
n.695+1597C=
c.233C= (p.Pro78=)
c.230C= (p.Pro77=)
n.436+1597C=
2g.218584683C>GCA350569145CNOT9c.392C>G (p.Pro131Arg)
n.695+1597C>G
c.233C>G (p.Pro78Arg)
c.230C>G (p.Pro77Arg)
n.436+1597C>G
2g.218584683C>TCA16602256CNOT9c.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
2g.218584683_218584684delinsTTCA645517063CNOT9c.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
2g.218584684C>ACA431228461CNOT9c.393C>A (p.Pro131=)
n.695+1598C>A
c.234C>A (p.Pro78=)
c.231C>A (p.Pro77=)
n.436+1598C>A
2g.218584684C>GCA431228462CNOT9c.393C>G (p.Pro131=)
n.695+1598C>G
c.234C>G (p.Pro78=)
c.231C>G (p.Pro77=)
n.436+1598C>G
2g.218584684C>TCA431228463CNOT9c.393C>T (p.Pro131=)
n.695+1598C>T
c.234C>T (p.Pro78=)
c.231C>T (p.Pro77=)
n.436+1598C>T
gnomAD v4
2g.218584685T>ACA350569146CNOT9c.394T>A (p.Phe132Ile)
n.695+1599T>A
c.235T>A (p.Phe79Ile)
c.232T>A (p.Phe78Ile)
n.436+1599T>A
2g.218584685T>CCA350569147CNOT9c.394T>C (p.Phe132Leu)
n.695+1599T>C
c.235T>C (p.Phe79Leu)
c.232T>C (p.Phe78Leu)
n.436+1599T>C
2g.218584685T>GCA350569148CNOT9c.394T>G (p.Phe132Val)
n.695+1599T>G
c.235T>G (p.Phe79Val)
c.232T>G (p.Phe78Val)
n.436+1599T>G
2g.218584686T>ACA350569151CNOT9c.395T>A (p.Phe132Tyr)
n.695+1600T>A
c.236T>A (p.Phe79Tyr)
c.233T>A (p.Phe78Tyr)
n.436+1600T>A
2g.218584686T>CCA350569149CNOT9c.395T>C (p.Phe132Ser)
n.695+1600T>C
c.236T>C (p.Phe79Ser)
c.233T>C (p.Phe78Ser)
n.436+1600T>C
2g.218584686T>GCA350569150CNOT9c.395T>G (p.Phe132Cys)
n.695+1600T>G
c.236T>G (p.Phe79Cys)
c.233T>G (p.Phe78Cys)
n.436+1600T>G
2g.218584687T>ACA350569152CNOT9c.396T>A (p.Phe132Leu)
n.695+1601T>A
c.237T>A (p.Phe79Leu)
c.234T>A (p.Phe78Leu)
n.436+1601T>A
2g.218584687T>CCA431228464CNOT9c.396T>C (p.Phe132=)
n.695+1601T>C
c.237T>C (p.Phe79=)
c.234T>C (p.Phe78=)
n.436+1601T>C
2g.218584687T>GCA350569153CNOT9c.396T>G (p.Phe132Leu)
n.695+1601T>G
c.237T>G (p.Phe79Leu)
c.234T>G (p.Phe78Leu)
n.436+1601T>G
2g.218584688G>ACA350569154CNOT9c.397G>A (p.Glu133Lys)
n.695+1602G>A
c.238G>A (p.Glu80Lys)
c.235G>A (p.Glu79Lys)
n.436+1602G>A
2g.218584688G>CCA350569156CNOT9c.397G>C (p.Glu133Gln)
n.695+1602G>C
c.238G>C (p.Glu80Gln)
c.235G>C (p.Glu79Gln)
n.436+1602G>C
2g.218584688G>TCA350569155CNOT9c.397G>T (p.Glu133Ter)
n.695+1602G>T
c.238G>T (p.Glu80Ter)
c.235G>T (p.Glu79Ter)
n.436+1602G>T
2g.218584689A>CCA350569157CNOT9c.398A>C (p.Glu133Ala)
n.695+1603A>C
c.239A>C (p.Glu80Ala)
c.236A>C (p.Glu79Ala)
n.436+1603A>C
2g.218584689A>GCA350569159CNOT9c.398A>G (p.Glu133Gly)
n.695+1603A>G
c.239A>G (p.Glu80Gly)
c.236A>G (p.Glu79Gly)
n.436+1603A>G
2g.218584689A>TCA350569158CNOT9c.398A>T (p.Glu133Val)
n.695+1603A>T
c.239A>T (p.Glu80Val)
c.236A>T (p.Glu79Val)
n.436+1603A>T
2g.218584690G>ACA431228465CNOT9c.399G>A (p.Glu133=)
n.695+1604G>A
c.240G>A (p.Glu80=)
c.237G>A (p.Glu79=)
n.436+1604G>A
gnomAD v4
2g.218584690G>CCA350569160CNOT9c.399G>C (p.Glu133Asp)
n.695+1604G>C
c.240G>C (p.Glu80Asp)
c.237G>C (p.Glu79Asp)
n.436+1604G>C
gnomAD v4
2g.218584690G>TCA350569161CNOT9c.399G>T (p.Glu133Asp)
n.695+1604G>T
c.240G>T (p.Glu80Asp)
c.237G>T (p.Glu79Asp)
n.436+1604G>T
2g.218584691T>ACA350569162CNOT9c.400T>A (p.Tyr134Asn)
n.695+1605T>A
c.241T>A (p.Tyr81Asn)
c.238T>A (p.Tyr80Asn)
n.436+1605T>A
2g.218584691T>CCA350569163CNOT9c.400T>C (p.Tyr134His)
n.695+1605T>C
c.241T>C (p.Tyr81His)
c.238T>C (p.Tyr80His)
n.436+1605T>C
2g.218584691T>GCA350569164CNOT9c.400T>G (p.Tyr134Asp)
n.695+1605T>G
c.241T>G (p.Tyr81Asp)
c.238T>G (p.Tyr80Asp)
n.436+1605T>G
2g.218584692A>CCA350569165CNOT9c.401A>C (p.Tyr134Ser)
n.695+1606A>C
c.242A>C (p.Tyr81Ser)
c.239A>C (p.Tyr80Ser)
n.436+1606A>C
2g.218584692A>GCA350569166CNOT9c.401A>G (p.Tyr134Cys)
n.695+1606A>G
c.242A>G (p.Tyr81Cys)
c.239A>G (p.Tyr80Cys)
n.436+1606A>G
2g.218584692A>TCA350569167CNOT9c.401A>T (p.Tyr134Phe)
n.695+1606A>T
c.242A>T (p.Tyr81Phe)
c.239A>T (p.Tyr80Phe)
n.436+1606A>T
2g.218584693T>ACA350569168CNOT9c.402T>A (p.Tyr134Ter)
n.695+1607T>A
c.243T>A (p.Tyr81Ter)
c.240T>A (p.Tyr80Ter)
n.436+1607T>A
2g.218584693T>CCA431228466CNOT9c.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
2g.218584693T>GCA350569169CNOT9c.402T>G (p.Tyr134Ter)
n.695+1607T>G
c.243T>G (p.Tyr81Ter)
c.240T>G (p.Tyr80Ter)
n.436+1607T>G
2g.218584693T=CA1328827426CNOT9c.402T= (p.Tyr134=)
n.695+1607T=
c.243T= (p.Tyr81=)
c.240T= (p.Tyr80=)
n.436+1607T=
2g.218584694C>ACA350569172CNOT9c.403C>A (p.Leu135Ile)
n.695+1608C>A
c.244C>A (p.Leu82Ile)
c.241C>A (p.Leu81Ile)
n.436+1608C>A
2g.218584694C>GCA350569171CNOT9c.403C>G (p.Leu135Val)
n.695+1608C>G
c.244C>G (p.Leu82Val)
c.241C>G (p.Leu81Val)
n.436+1608C>G
2g.218584694C>TCA350569170CNOT9c.403C>T (p.Leu135Phe)
n.695+1608C>T
c.244C>T (p.Leu82Phe)
c.241C>T (p.Leu81Phe)
n.436+1608C>T
2g.218584695T>ACA350569173CNOT9c.404T>A (p.Leu135His)
n.695+1609T>A
c.245T>A (p.Leu82His)
c.242T>A (p.Leu81His)
n.436+1609T>A
2g.218584695T>CCA350569174CNOT9c.404T>C (p.Leu135Pro)
n.695+1609T>C
c.245T>C (p.Leu82Pro)
c.242T>C (p.Leu81Pro)
n.436+1609T>C
2g.218584695T>GCA350569175CNOT9c.404T>G (p.Leu135Arg)
n.695+1609T>G
c.245T>G (p.Leu82Arg)
c.242T>G (p.Leu81Arg)
n.436+1609T>G
2g.218584696C>ACA431228467CNOT9c.405C>A (p.Leu135=)
n.695+1610C>A
c.246C>A (p.Leu82=)
c.243C>A (p.Leu81=)
n.436+1610C>A
2g.218584696C=CA1328827427CNOT9c.405C= (p.Leu135=)
n.695+1610C=
c.246C= (p.Leu82=)
c.243C= (p.Leu81=)
n.436+1610C=
2g.218584696C>GCA431228468CNOT9c.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

Number of alleles fetched