Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.8957144_8957150delinsCAGCCTGCA1152580640CA6c.267_273delinsCAGCCTG (p.Ile89=)
c.87_93delinsCAGCCTG (p.Ile29=)
n.99-1766_99-1760delinsCAGCCTG
c.171_177delinsCAGCCTG (p.Ile57=)
c.25-1766_25-1760delinsCAGCCTG (n.25-1766_25-1760delinsCAGCCTG)
c.279_285delinsCAGCCTG (p.Ile93=)
1g.8957145A=CA1139925314CA6c.268A= (p.Ser90=)
c.88A= (p.Ser30=)
n.99-1765A=
c.172A= (p.Ser58=)
c.25-1765A= (n.25-1765A=)
c.280A= (p.Ser94=)
1g.8957145A>CCA338184642CA6c.268A>C (p.Ser90Arg)
c.88A>C (p.Ser30Arg)
n.99-1765A>C
c.172A>C (p.Ser58Arg)
c.25-1765A>C (n.25-1765A>C)
c.280A>C (p.Ser94Arg)
1g.8957145A>GCA572947CA6c.268A>G (p.Ser90Gly)
c.88A>G (p.Ser30Gly)
n.99-1765A>G
c.172A>G (p.Ser58Gly)
c.25-1765A>G (n.25-1765A>G)
c.280A>G (p.Ser94Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957145A>TCA338184643CA6c.268A>T (p.Ser90Cys)
c.88A>T (p.Ser30Cys)
n.99-1765A>T
c.172A>T (p.Ser58Cys)
c.25-1765A>T (n.25-1765A>T)
c.280A>T (p.Ser94Cys)
 gnomAD v4
1g.8957145_8957150delCA572946CA6c.268_273del (p.Ser90_Leu91del)
c.88_93del (p.Ser30_Leu31del)
n.99-1765_99-1760del
c.172_177del (p.Ser58_Leu59del)
c.25-1765_25-1760del (n.25-1765_25-1760del)
c.280_285del (p.Ser94_Leu95del)
 dbSNP ExAC
1g.8957146G>ACA338184645CA6c.269G>A (p.Ser90Asn)
c.89G>A (p.Ser30Asn)
n.99-1764G>A
c.173G>A (p.Ser58Asn)
c.25-1764G>A (n.25-1764G>A)
c.281G>A (p.Ser94Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.8957146G>CCA338184646CA6c.269G>C (p.Ser90Thr)
c.89G>C (p.Ser30Thr)
n.99-1764G>C
c.173G>C (p.Ser58Thr)
c.25-1764G>C (n.25-1764G>C)
c.281G>C (p.Ser94Thr)
1g.8957146G=CA1152580646CA6c.269G= (p.Ser90=)
c.89G= (p.Ser30=)
n.99-1764G=
c.173G= (p.Ser58=)
c.25-1764G= (n.25-1764G=)
c.281G= (p.Ser94=)
1g.8957146G>TCA338184644CA6c.269G>T (p.Ser90Ile)
c.89G>T (p.Ser30Ile)
n.99-1764G>T
c.173G>T (p.Ser58Ile)
c.25-1764G>T (n.25-1764G>T)
c.281G>T (p.Ser94Ile)
1g.8957147C>ACA338184647CA6c.270C>A (p.Ser90Arg)
c.90C>A (p.Ser30Arg)
n.99-1763C>A
c.174C>A (p.Ser58Arg)
c.25-1763C>A (n.25-1763C>A)
c.282C>A (p.Ser94Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.8957147C=CA1152580649CA6c.270C= (p.Ser90=)
c.90C= (p.Ser30=)
n.99-1763C=
c.174C= (p.Ser58=)
c.25-1763C= (n.25-1763C=)
c.282C= (p.Ser94=)
1g.8957147C>GCA338184648CA6c.270C>G (p.Ser90Arg)
c.90C>G (p.Ser30Arg)
n.99-1763C>G
c.174C>G (p.Ser58Arg)
c.25-1763C>G (n.25-1763C>G)
c.282C>G (p.Ser94Arg)
1g.8957147C>TCA415858525CA6c.270C>T (p.Ser90=)
c.90C>T (p.Ser30=)
n.99-1763C>T
c.174C>T (p.Ser58=)
c.25-1763C>T (n.25-1763C>T)
c.282C>T (p.Ser94=)
1g.8957148C>ACA338184649CA6c.271C>A (p.Leu91Met)
c.91C>A (p.Leu31Met)
n.99-1762C>A
c.175C>A (p.Leu59Met)
c.25-1762C>A (n.25-1762C>A)
c.283C>A (p.Leu95Met)
 gnomAD v4
1g.8957148C>GCA338184650CA6c.271C>G (p.Leu91Val)
c.91C>G (p.Leu31Val)
n.99-1762C>G
c.175C>G (p.Leu59Val)
c.25-1762C>G (n.25-1762C>G)
c.283C>G (p.Leu95Val)
1g.8957148C>TCA415858526CA6c.271C>T (p.Leu91=)
c.91C>T (p.Leu31=)
n.99-1762C>T
c.175C>T (p.Leu59=)
c.25-1762C>T (n.25-1762C>T)
c.283C>T (p.Leu95=)
 gnomAD v4
1g.8957149T>ACA338184651CA6c.272T>A (p.Leu91Gln)
c.92T>A (p.Leu31Gln)
n.99-1761T>A
c.176T>A (p.Leu59Gln)
c.25-1761T>A (n.25-1761T>A)
c.284T>A (p.Leu95Gln)
1g.8957149T>CCA338184652CA6c.272T>C (p.Leu91Pro)
c.92T>C (p.Leu31Pro)
n.99-1761T>C
c.176T>C (p.Leu59Pro)
c.25-1761T>C (n.25-1761T>C)
c.284T>C (p.Leu95Pro)
1g.8957149T>GCA338184653CA6c.272T>G (p.Leu91Arg)
c.92T>G (p.Leu31Arg)
n.99-1761T>G
c.176T>G (p.Leu59Arg)
c.25-1761T>G (n.25-1761T>G)
c.284T>G (p.Leu95Arg)
1g.8957150G>ACA415858527CA6c.273G>A (p.Leu91=)
c.93G>A (p.Leu31=)
n.99-1760G>A
c.177G>A (p.Leu59=)
c.25-1760G>A (n.25-1760G>A)
c.285G>A (p.Leu95=)
1g.8957150G>CCA415858528CA6c.273G>C (p.Leu91=)
c.93G>C (p.Leu31=)
n.99-1760G>C
c.177G>C (p.Leu59=)
c.25-1760G>C (n.25-1760G>C)
c.285G>C (p.Leu95=)
1g.8957150G>TCA415858529CA6c.273G>T (p.Leu91=)
c.93G>T (p.Leu31=)
n.99-1760G>T
c.177G>T (p.Leu59=)
c.25-1760G>T (n.25-1760G>T)
c.285G>T (p.Leu95=)
1g.8957151C>ACA338184654CA6c.274C>A (p.Pro92Thr)
c.94C>A (p.Pro32Thr)
n.99-1759C>A
c.178C>A (p.Pro60Thr)
c.25-1759C>A (n.25-1759C>A)
c.286C>A (p.Pro96Thr)
1g.8957151C>GCA338184655CA6c.274C>G (p.Pro92Ala)
c.94C>G (p.Pro32Ala)
n.99-1759C>G
c.178C>G (p.Pro60Ala)
c.25-1759C>G (n.25-1759C>G)
c.286C>G (p.Pro96Ala)
1g.8957151C>TCA338184656CA6c.274C>T (p.Pro92Ser)
c.94C>T (p.Pro32Ser)
n.99-1759C>T
c.178C>T (p.Pro60Ser)
c.25-1759C>T (n.25-1759C>T)
c.286C>T (p.Pro96Ser)
1g.8957152C>ACA338184657CA6c.275C>A (p.Pro92His)
c.95C>A (p.Pro32His)
n.99-1758C>A
c.179C>A (p.Pro60His)
c.25-1758C>A (n.25-1758C>A)
c.287C>A (p.Pro96His)
 gnomAD v4
1g.8957152C>GCA338184658CA6c.275C>G (p.Pro92Arg)
c.95C>G (p.Pro32Arg)
n.99-1758C>G
c.179C>G (p.Pro60Arg)
c.25-1758C>G (n.25-1758C>G)
c.287C>G (p.Pro96Arg)
1g.8957152C>TCA338184659CA6c.275C>T (p.Pro92Leu)
c.95C>T (p.Pro32Leu)
n.99-1758C>T
c.179C>T (p.Pro60Leu)
c.25-1758C>T (n.25-1758C>T)
c.287C>T (p.Pro96Leu)
 gnomAD v4
1g.8957153C>ACA415858530CA6c.276C>A (p.Pro92=)
c.96C>A (p.Pro32=)
n.99-1757C>A
c.180C>A (p.Pro60=)
c.25-1757C>A (n.25-1757C>A)
c.288C>A (p.Pro96=)
1g.8957153C=CA1152580654CA6c.276C= (p.Pro92=)
c.96C= (p.Pro32=)
n.99-1757C=
c.180C= (p.Pro60=)
c.25-1757C= (n.25-1757C=)
c.288C= (p.Pro96=)
1g.8957153C>GCA415858531CA6c.276C>G (p.Pro92=)
c.96C>G (p.Pro32=)
n.99-1757C>G
c.180C>G (p.Pro60=)
c.25-1757C>G (n.25-1757C>G)
c.288C>G (p.Pro96=)
1g.8957153C>TCA572948CA6c.276C>T (p.Pro92=)
c.96C>T (p.Pro32=)
n.99-1757C>T
c.180C>T (p.Pro60=)
c.25-1757C>T (n.25-1757C>T)
c.288C>T (p.Pro96=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8957154T>ACA338184660CA6c.277T>A (p.Ser93Thr)
c.97T>A (p.Ser33Thr)
n.99-1756T>A
c.181T>A (p.Ser61Thr)
c.25-1756T>A (n.25-1756T>A)
c.289T>A (p.Ser97Thr)
1g.8957154T>CCA338184661CA6c.277T>C (p.Ser93Pro)
c.97T>C (p.Ser33Pro)
n.99-1756T>C
c.181T>C (p.Ser61Pro)
c.25-1756T>C (n.25-1756T>C)
c.289T>C (p.Ser97Pro)
 dbSNP
1g.8957154T>GCA338184662CA6c.277T>G (p.Ser93Ala)
c.97T>G (p.Ser33Ala)
n.99-1756T>G
c.181T>G (p.Ser61Ala)
c.25-1756T>G (n.25-1756T>G)
c.289T>G (p.Ser97Ala)
1g.8957154T=CA1152580658CA6c.277T= (p.Ser93=)
c.97T= (p.Ser33=)
n.99-1756T=
c.181T= (p.Ser61=)
c.25-1756T= (n.25-1756T=)
c.289T= (p.Ser97=)
1g.8957155C>ACA338184663CA6c.278C>A (p.Ser93Tyr)
c.98C>A (p.Ser33Tyr)
n.99-1755C>A
c.182C>A (p.Ser61Tyr)
c.25-1755C>A (n.25-1755C>A)
c.290C>A (p.Ser97Tyr)
 gnomAD v4
1g.8957155C>GCA338184664CA6c.278C>G (p.Ser93Cys)
c.98C>G (p.Ser33Cys)
n.99-1755C>G
c.182C>G (p.Ser61Cys)
c.25-1755C>G (n.25-1755C>G)
c.290C>G (p.Ser97Cys)
1g.8957155C>TCA338184665CA6c.278C>T (p.Ser93Phe)
c.98C>T (p.Ser33Phe)
n.99-1755C>T
c.182C>T (p.Ser61Phe)
c.25-1755C>T (n.25-1755C>T)
c.290C>T (p.Ser97Phe)
1g.8957156C>ACA415858541CA6c.279C>A (p.Ser93=)
c.99C>A (p.Ser33=)
n.99-1754C>A
c.183C>A (p.Ser61=)
c.25-1754C>A (n.25-1754C>A)
c.291C>A (p.Ser97=)
 gnomAD v4
1g.8957156C=CA1152580660CA6c.279C= (p.Ser93=)
c.99C= (p.Ser33=)
n.99-1754C=
c.183C= (p.Ser61=)
c.25-1754C= (n.25-1754C=)
c.291C= (p.Ser97=)
1g.8957156C>GCA415858542CA6c.279C>G (p.Ser93=)
c.99C>G (p.Ser33=)
n.99-1754C>G
c.183C>G (p.Ser61=)
c.25-1754C>G (n.25-1754C>G)
c.291C>G (p.Ser97=)
 dbSNP
1g.8957156C>TCA415858545CA6c.279C>T (p.Ser93=)
c.99C>T (p.Ser33=)
n.99-1754C>T
c.183C>T (p.Ser61=)
c.25-1754C>T (n.25-1754C>T)
c.291C>T (p.Ser97=)
 dbSNP gnomAD v2 gnomAD v4
1g.8957157A>CCA338184666CA6c.280A>C (p.Thr94Pro)
c.100A>C (p.Thr34Pro)
n.99-1753A>C
c.184A>C (p.Thr62Pro)
c.25-1753A>C (n.25-1753A>C)
c.292A>C (p.Thr98Pro)
1g.8957157A>GCA338184667CA6c.280A>G (p.Thr94Ala)
c.100A>G (p.Thr34Ala)
n.99-1753A>G
c.184A>G (p.Thr62Ala)
c.25-1753A>G (n.25-1753A>G)
c.292A>G (p.Thr98Ala)
1g.8957157A>TCA338184668CA6c.280A>T (p.Thr94Ser)
c.100A>T (p.Thr34Ser)
n.99-1753A>T
c.184A>T (p.Thr62Ser)
c.25-1753A>T (n.25-1753A>T)
c.292A>T (p.Thr98Ser)
1g.8957158C>ACA338184669CA6c.281C>A (p.Thr94Asn)
c.101C>A (p.Thr34Asn)
n.99-1752C>A
c.185C>A (p.Thr62Asn)
c.25-1752C>A (n.25-1752C>A)
c.293C>A (p.Thr98Asn)
1g.8957158C>GCA338184670CA6c.281C>G (p.Thr94Ser)
c.101C>G (p.Thr34Ser)
n.99-1752C>G
c.185C>G (p.Thr62Ser)
c.25-1752C>G (n.25-1752C>G)
c.293C>G (p.Thr98Ser)
1g.8957158C>TCA338184671CA6c.281C>T (p.Thr94Ile)
c.101C>T (p.Thr34Ile)
n.99-1752C>T
c.185C>T (p.Thr62Ile)
c.25-1752C>T (n.25-1752C>T)
c.293C>T (p.Thr98Ile)

Number of alleles fetched