Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54628088C>ACA370981674RP1c.4206C>A (p.Cys1402Ter)
c.787+5800C>A (n.787+5800C>A)
c.4227C>A (p.Cys1409Ter)
8g.54628088C>GCA370981675RP1c.4206C>G (p.Cys1402Trp)
c.787+5800C>G (n.787+5800C>G)
c.4227C>G (p.Cys1409Trp)
8g.54628088C>TCA461099849RP1c.4206C>T (p.Cys1402=)
c.787+5800C>T (n.787+5800C>T)
c.4227C>T (p.Cys1409=)
8g.54628089C>ACA370981679RP1c.4207C>A (p.Leu1403Ile)
c.787+5801C>A (n.787+5801C>A)
c.4228C>A (p.Leu1410Ile)
8g.54628089C=CA1785189027RP1c.4207C= (p.Leu1403=)
c.787+5801C= (n.787+5801C=)
c.4228C= (p.Leu1410=)
8g.54628089C>GCA370981681RP1c.4207C>G (p.Leu1403Val)
c.787+5801C>G (n.787+5801C>G)
c.4228C>G (p.Leu1410Val)
8g.54628089C>TCA461099852RP1c.4207C>T (p.Leu1403=)
c.787+5801C>T (n.787+5801C>T)
c.4228C>T (p.Leu1410=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54628090T>ACA370981684RP1c.4208T>A (p.Leu1403Gln)
c.787+5802T>A (n.787+5802T>A)
c.4229T>A (p.Leu1410Gln)
8g.54628090T>CCA370981686RP1c.4208T>C (p.Leu1403Pro)
c.787+5802T>C (n.787+5802T>C)
c.4229T>C (p.Leu1410Pro)
8g.54628090T>GCA370981688RP1c.4208T>G (p.Leu1403Arg)
c.787+5802T>G (n.787+5802T>G)
c.4229T>G (p.Leu1410Arg)
8g.54628091A>CCA461099854RP1c.4209A>C (p.Leu1403=)
c.787+5803A>C (n.787+5803A>C)
c.4230A>C (p.Leu1410=)
8g.54628091A>GCA461099855RP1c.4209A>G (p.Leu1403=)
c.787+5803A>G (n.787+5803A>G)
c.4230A>G (p.Leu1410=)
8g.54628091A>TCA461099856RP1c.4209A>T (p.Leu1403=)
c.787+5803A>T (n.787+5803A>T)
c.4230A>T (p.Leu1410=)
8g.54628092A>CCA370981691RP1c.4210A>C (p.Ser1404Arg)
c.787+5804A>C (n.787+5804A>C)
c.4231A>C (p.Ser1411Arg)
 gnomAD v4
8g.54628092A>GCA370981694RP1c.4210A>G (p.Ser1404Gly)
c.787+5804A>G (n.787+5804A>G)
c.4231A>G (p.Ser1411Gly)
8g.54628092A>TCA370981695RP1c.4210A>T (p.Ser1404Cys)
c.787+5804A>T (n.787+5804A>T)
c.4231A>T (p.Ser1411Cys)
 COSMIC
8g.54628093G>ACA370981696RP1c.4211G>A (p.Ser1404Asn)
c.787+5805G>A (n.787+5805G>A)
c.4232G>A (p.Ser1411Asn)
 dbSNP
8g.54628093G>CCA370981697RP1c.4211G>C (p.Ser1404Thr)
c.787+5805G>C (n.787+5805G>C)
c.4232G>C (p.Ser1411Thr)
8g.54628093G=CA1785189028RP1c.4211G= (p.Ser1404=)
c.787+5805G= (n.787+5805G=)
c.4232G= (p.Ser1411=)
8g.54628093G>TCA370981698RP1c.4211G>T (p.Ser1404Ile)
c.787+5805G>T (n.787+5805G>T)
c.4232G>T (p.Ser1411Ile)
8g.54628093_54628094delinsGTCA1785189029RP1c.4211_4212delinsGT (p.Ser1404=)
c.787+5805_787+5806delinsGT (n.787+5805_787+5806delinsGT)
c.4232_4233delinsGT (p.Ser1411=)
8g.54628094delCA1785189030RP1c.4212del (p.Ser1404ArgfsTer14)
c.787+5806del (n.787+5806del)
c.4233del (p.Ser1411ArgfsTer14)
 ClinVar dbSNP gnomAD v4
8g.54628094T>ACA370981699RP1c.4212T>A (p.Ser1404Arg)
c.787+5806T>A (n.787+5806T>A)
c.4233T>A (p.Ser1411Arg)
8g.54628094T>CCA461099858RP1c.4212T>C (p.Ser1404=)
c.787+5806T>C (n.787+5806T>C)
c.4233T>C (p.Ser1411=)
8g.54628094T>GCA370981700RP1c.4212T>G (p.Ser1404Arg)
c.787+5806T>G (n.787+5806T>G)
c.4233T>G (p.Ser1411Arg)
8g.54628095G>ACA177181438RP1c.4213G>A (p.Glu1405Lys)
c.787+5807G>A (n.787+5807G>A)
c.4234G>A (p.Glu1412Lys)
 dbSNP COSMIC
8g.54628095G>CCA370981701RP1c.4213G>C (p.Glu1405Gln)
c.787+5807G>C (n.787+5807G>C)
c.4234G>C (p.Glu1412Gln)
8g.54628095G=CA1785189031RP1c.4213G= (p.Glu1405=)
c.787+5807G= (n.787+5807G=)
c.4234G= (p.Glu1412=)
8g.54628095G>TCA370981702RP1c.4213G>T (p.Glu1405Ter)
c.787+5807G>T (n.787+5807G>T)
c.4234G>T (p.Glu1412Ter)
 gnomAD v4 COSMIC
8g.54628096A=CA1785189032RP1c.4214A= (p.Glu1405=)
c.787+5808A= (n.787+5808A=)
c.4235A= (p.Glu1412=)
8g.54628096A>CCA370981703RP1c.4214A>C (p.Glu1405Ala)
c.787+5808A>C (n.787+5808A>C)
c.4235A>C (p.Glu1412Ala)
8g.54628096A>GCA370981704RP1c.4214A>G (p.Glu1405Gly)
c.787+5808A>G (n.787+5808A>G)
c.4235A>G (p.Glu1412Gly)
 dbSNP
8g.54628096A>TCA370981705RP1c.4214A>T (p.Glu1405Val)
c.787+5808A>T (n.787+5808A>T)
c.4235A>T (p.Glu1412Val)
8g.54628097A>CCA370981706RP1c.4215A>C (p.Glu1405Asp)
c.787+5809A>C (n.787+5809A>C)
c.4236A>C (p.Glu1412Asp)
8g.54628097A>GCA461099868RP1c.4215A>G (p.Glu1405=)
c.787+5809A>G (n.787+5809A>G)
c.4236A>G (p.Glu1412=)
8g.54628097A>TCA370981707RP1c.4215A>T (p.Glu1405Asp)
c.787+5809A>T (n.787+5809A>T)
c.4236A>T (p.Glu1412Asp)
8g.54628097_54628101delinsAAAAGCA1785189033RP1c.4215_4219delinsAAAAG (p.Glu1405=)
c.787+5809_787+5813delinsAAAAG (n.787+5809_787+5813delinsAAAAG)
c.4236_4240delinsAAAAG (p.Glu1412=)
8g.54628098A=CA1785189034RP1c.4216A= (p.Lys1406=)
c.787+5810A= (n.787+5810A=)
c.4237A= (p.Lys1413=)
8g.54628098A>CCA370981708RP1c.4216A>C (p.Lys1406Gln)
c.787+5810A>C (n.787+5810A>C)
c.4237A>C (p.Lys1413Gln)
 dbSNP gnomAD v4
8g.54628098A>GCA4751820RP1c.4216A>G (p.Lys1406Glu)
c.787+5810A>G (n.787+5810A>G)
c.4237A>G (p.Lys1413Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54628098A>TCA370981709RP1c.4216A>T (p.Lys1406Ter)
c.787+5810A>T (n.787+5810A>T)
c.4237A>T (p.Lys1413Ter)
8g.54628100_54628103delCA1139660542RP1c.4218_4221del (p.Glu1407GlnfsTer10)
c.787+5812_787+5815del (n.787+5812_787+5815del)
c.4239_4242del (p.Glu1414GlnfsTer10)
 ClinVar dbSNP
8g.54628099A>CCA370981710RP1c.4217A>C (p.Lys1406Thr)
c.787+5811A>C (n.787+5811A>C)
c.4238A>C (p.Lys1413Thr)
8g.54628099A>GCA370981711RP1c.4217A>G (p.Lys1406Arg)
c.787+5811A>G (n.787+5811A>G)
c.4238A>G (p.Lys1413Arg)
8g.54628099A>TCA370981712RP1c.4217A>T (p.Lys1406Ile)
c.787+5811A>T (n.787+5811A>T)
c.4238A>T (p.Lys1413Ile)
8g.54628100A>CCA370981713RP1c.4218A>C (p.Lys1406Asn)
c.787+5812A>C (n.787+5812A>C)
c.4239A>C (p.Lys1413Asn)
 gnomAD v4
8g.54628100A>GCA461099877RP1c.4218A>G (p.Lys1406=)
c.787+5812A>G (n.787+5812A>G)
c.4239A>G (p.Lys1413=)
 COSMIC
8g.54628100A>TCA370981714RP1c.4218A>T (p.Lys1406Asn)
c.787+5812A>T (n.787+5812A>T)
c.4239A>T (p.Lys1413Asn)
8g.54628101G>ACA370981715RP1c.4219G>A (p.Glu1407Lys)
c.787+5813G>A (n.787+5813G>A)
c.4240G>A (p.Glu1414Lys)
8g.54628101G>CCA370981716RP1c.4219G>C (p.Glu1407Gln)
c.787+5813G>C (n.787+5813G>C)
c.4240G>C (p.Glu1414Gln)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched