Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197102968T>ACA344023255ASPMn.2108-6804A>T
c.6283A>T (p.Lys2095Ter)
n.6283A>T (p.Lys2095Ter)
c.4066-6804A>T (p.=)
c.1816-6804A>T (p.=)
c.562-321A>T (p.=)
1g.197102968T>CCA344023256ASPMn.2108-6804A>G
c.6283A>G (p.Lys2095Glu)
n.6283A>G (p.Lys2095Glu)
c.4066-6804A>G (p.=)
c.1816-6804A>G (p.=)
c.562-321A>G (p.=)
1g.197102968T>GCA344023257ASPMn.2108-6804A>C
c.6283A>C (p.Lys2095Gln)
n.6283A>C (p.Lys2095Gln)
c.4066-6804A>C (p.=)
c.1816-6804A>C (p.=)
c.562-321A>C (p.=)
1g.197102969C>ACA344023258ASPMn.2108-6805G>T
c.6282G>T (p.Lys2094Asn)
n.6282G>T (p.Lys2094Asn)
c.4066-6805G>T (p.=)
c.1816-6805G>T (p.=)
c.562-322G>T (p.=)
1g.197102969C>GCA344023259ASPMn.2108-6805G>C
c.6282G>C (p.Lys2094Asn)
n.6282G>C (p.Lys2094Asn)
c.4066-6805G>C (p.=)
c.1816-6805G>C (p.=)
c.562-322G>C (p.=)
1g.197102969C>TCA422806600ASPMn.2108-6805G>A
c.6282G>A (p.Lys2094=)
n.6282G>A (p.Lys2094=)
c.4066-6805G>A (p.=)
c.1816-6805G>A (p.=)
c.562-322G>A (p.=)
1g.197102969_197102975delinsCTTCAAACA1217930489ASPMn.2108-6811_2108-6805delinsTTTGAAG
c.6276_6282delinsTTTGAAG (p.Asn2092=)
n.6276_6282delinsTTTGAAG (p.Asn2092=)
c.4066-6811_4066-6805delinsTTTGAAG (p.=)
c.1816-6811_1816-6805delinsTTTGAAG (p.=)
c.562-328_562-322delinsTTTGAAG (p.=)
1g.197102970T>ACA344023260ASPMn.2108-6806A>T
c.6281A>T (p.Lys2094Met)
n.6281A>T (p.Lys2094Met)
c.4066-6806A>T (p.=)
c.1816-6806A>T (p.=)
c.562-323A>T (p.=)
1g.197102970T>CCA344023261ASPMn.2108-6806A>G
c.6281A>G (p.Lys2094Arg)
n.6281A>G (p.Lys2094Arg)
c.4066-6806A>G (p.=)
c.1816-6806A>G (p.=)
c.562-323A>G (p.=)
1g.197102970T>GCA344023262ASPMn.2108-6806A>C
c.6281A>C (p.Lys2094Thr)
n.6281A>C (p.Lys2094Thr)
c.4066-6806A>C (p.=)
c.1816-6806A>C (p.=)
c.562-323A>C (p.=)
1g.197102972_197102977delCA1309609ASPMn.2108-6811_2108-6806del
c.6276_6281del (p.Asn2092_Leu2093del)
n.6276_6281del (p.Asn2092_Leu2093del)
c.4066-6811_4066-6806del (p.=)
c.1816-6811_1816-6806del (p.=)
c.562-328_562-323del (p.=)
dbSNP ExAC gnomAD
1g.197102971T>ACA344023263ASPMn.2108-6807A>T
c.6280A>T (p.Lys2094Ter)
n.6280A>T (p.Lys2094Ter)
c.4066-6807A>T (p.=)
c.1816-6807A>T (p.=)
c.562-324A>T (p.=)
1g.197102971T>CCA344023264ASPMn.2108-6807A>G
c.6280A>G (p.Lys2094Glu)
n.6280A>G (p.Lys2094Glu)
c.4066-6807A>G (p.=)
c.1816-6807A>G (p.=)
c.562-324A>G (p.=)
1g.197102971T>GCA344023265ASPMn.2108-6807A>C
c.6280A>C (p.Lys2094Gln)
n.6280A>C (p.Lys2094Gln)
c.4066-6807A>C (p.=)
c.1816-6807A>C (p.=)
c.562-324A>C (p.=)
1g.197102972C>ACA344023266ASPMn.2108-6808G>T
c.6279G>T (p.Leu2093Phe)
n.6279G>T (p.Leu2093Phe)
c.4066-6808G>T (p.=)
c.1816-6808G>T (p.=)
c.562-325G>T (p.=)
1g.197102972C>GCA344023267ASPMn.2108-6808G>C
c.6279G>C (p.Leu2093Phe)
n.6279G>C (p.Leu2093Phe)
c.4066-6808G>C (p.=)
c.1816-6808G>C (p.=)
c.562-325G>C (p.=)
1g.197102972C>TCA422806604ASPMn.2108-6808G>A
c.6279G>A (p.Leu2093=)
n.6279G>A (p.Leu2093=)
c.4066-6808G>A (p.=)
c.1816-6808G>A (p.=)
c.562-325G>A (p.=)
1g.197102973A=CA1217930490ASPMn.2108-6809T=
c.6278T= (p.Leu2093=)
n.6278T= (p.Leu2093=)
c.4066-6809T= (p.=)
c.1816-6809T= (p.=)
c.562-326T= (p.=)
1g.197102973A>CCA344023268ASPMn.2108-6809T>G
c.6278T>G (p.Leu2093Trp)
n.6278T>G (p.Leu2093Trp)
c.4066-6809T>G (p.=)
c.1816-6809T>G (p.=)
c.562-326T>G (p.=)
1g.197102973A>GCA344023269ASPMn.2108-6809T>C
c.6278T>C (p.Leu2093Ser)
n.6278T>C (p.Leu2093Ser)
c.4066-6809T>C (p.=)
c.1816-6809T>C (p.=)
c.562-326T>C (p.=)
1g.197102973A>TCA344023270ASPMn.2108-6809T>A
c.6278T>A (p.Leu2093Ter)
n.6278T>A (p.Leu2093Ter)
c.4066-6809T>A (p.=)
c.1816-6809T>A (p.=)
c.562-326T>A (p.=)
1g.197102974A>CCA344023271ASPMn.2108-6810T>G
c.6277T>G (p.Leu2093Val)
n.6277T>G (p.Leu2093Val)
c.4066-6810T>G (p.=)
c.1816-6810T>G (p.=)
c.562-327T>G (p.=)
1g.197102974A>GCA422806609ASPMn.2108-6810T>C
c.6277T>C (p.Leu2093=)
n.6277T>C (p.Leu2093=)
c.4066-6810T>C (p.=)
c.1816-6810T>C (p.=)
c.562-327T>C (p.=)
1g.197102974A>TCA344023272ASPMn.2108-6810T>A
c.6277T>A (p.Leu2093Met)
n.6277T>A (p.Leu2093Met)
c.4066-6810T>A (p.=)
c.1816-6810T>A (p.=)
c.562-327T>A (p.=)
1g.197102975A>CCA344023273ASPMn.2108-6811T>G
c.6276T>G (p.Asn2092Lys)
n.6276T>G (p.Asn2092Lys)
c.4066-6811T>G (p.=)
c.1816-6811T>G (p.=)
c.562-328T>G (p.=)
1g.197102975A>GCA422806610ASPMn.2108-6811T>C
c.6276T>C (p.Asn2092=)
n.6276T>C (p.Asn2092=)
c.4066-6811T>C (p.=)
c.1816-6811T>C (p.=)
c.562-328T>C (p.=)
1g.197102975A>TCA344023274ASPMn.2108-6811T>A
c.6276T>A (p.Asn2092Lys)
n.6276T>A (p.Asn2092Lys)
c.4066-6811T>A (p.=)
c.1816-6811T>A (p.=)
c.562-328T>A (p.=)
1g.197102976T>ACA1309610ASPMn.2108-6812A>T
c.6275A>T (p.Asn2092Ile)
n.6275A>T (p.Asn2092Ile)
c.4066-6812A>T (p.=)
c.1816-6812A>T (p.=)
c.562-329A>T (p.=)
ClinVar dbSNP ExAC gnomAD
1g.197102976T>CCA344023275ASPMn.2108-6812A>G
c.6275A>G (p.Asn2092Ser)
n.6275A>G (p.Asn2092Ser)
c.4066-6812A>G (p.=)
c.1816-6812A>G (p.=)
c.562-329A>G (p.=)
1g.197102976T>GCA344023276ASPMn.2108-6812A>C
c.6275A>C (p.Asn2092Thr)
n.6275A>C (p.Asn2092Thr)
c.4066-6812A>C (p.=)
c.1816-6812A>C (p.=)
c.562-329A>C (p.=)
1g.197102976T=CA1142000161ASPMn.2108-6812A=
c.6275A= (p.Asn2092=)
n.6275A= (p.Asn2092=)
c.4066-6812A= (p.=)
c.1816-6812A= (p.=)
c.562-329A= (p.=)
1g.197102977T>ACA344023277ASPMn.2108-6813A>T
c.6274A>T (p.Asn2092Tyr)
n.6274A>T (p.Asn2092Tyr)
c.4066-6813A>T (p.=)
c.1816-6813A>T (p.=)
c.562-330A>T (p.=)
1g.197102977T>CCA35871407ASPMn.2108-6813A>G
c.6274A>G (p.Asn2092Asp)
n.6274A>G (p.Asn2092Asp)
c.4066-6813A>G (p.=)
c.1816-6813A>G (p.=)
c.562-330A>G (p.=)
dbSNP gnomAD
1g.197102977T>GCA344023278ASPMn.2108-6813A>C
c.6274A>C (p.Asn2092His)
n.6274A>C (p.Asn2092His)
c.4066-6813A>C (p.=)
c.1816-6813A>C (p.=)
c.562-330A>C (p.=)
1g.197102977T=CA1143377732ASPMn.2108-6813A=
c.6274A= (p.Asn2092=)
n.6274A= (p.Asn2092=)
c.4066-6813A= (p.=)
c.1816-6813A= (p.=)
c.562-330A= (p.=)
1g.197102978A>CCA422806627ASPMn.2108-6814T>G
c.6273T>G (p.Leu2091=)
n.6273T>G (p.Leu2091=)
c.4066-6814T>G (p.=)
c.1816-6814T>G (p.=)
c.562-331T>G (p.=)
1g.197102978A>GCA422806624ASPMn.2108-6814T>C
c.6273T>C (p.Leu2091=)
n.6273T>C (p.Leu2091=)
c.4066-6814T>C (p.=)
c.1816-6814T>C (p.=)
c.562-331T>C (p.=)
1g.197102978A>TCA422806625ASPMn.2108-6814T>A
c.6273T>A (p.Leu2091=)
n.6273T>A (p.Leu2091=)
c.4066-6814T>A (p.=)
c.1816-6814T>A (p.=)
c.562-331T>A (p.=)
1g.197102979A>CCA344023279ASPMn.2108-6815T>G
c.6272T>G (p.Leu2091Arg)
n.6272T>G (p.Leu2091Arg)
c.4066-6815T>G (p.=)
c.1816-6815T>G (p.=)
c.562-332T>G (p.=)
1g.197102979A>GCA344023281ASPMn.2108-6815T>C
c.6272T>C (p.Leu2091Pro)
n.6272T>C (p.Leu2091Pro)
c.4066-6815T>C (p.=)
c.1816-6815T>C (p.=)
c.562-332T>C (p.=)
1g.197102979A>TCA344023280ASPMn.2108-6815T>A
c.6272T>A (p.Leu2091His)
n.6272T>A (p.Leu2091His)
c.4066-6815T>A (p.=)
c.1816-6815T>A (p.=)
c.562-332T>A (p.=)
1g.197102980G>ACA344023282ASPMn.2108-6816C>T
c.6271C>T (p.Leu2091Phe)
n.6271C>T (p.Leu2091Phe)
c.4066-6816C>T (p.=)
c.1816-6816C>T (p.=)
c.562-333C>T (p.=)
1g.197102980G>CCA344023283ASPMn.2108-6816C>G
c.6271C>G (p.Leu2091Val)
n.6271C>G (p.Leu2091Val)
c.4066-6816C>G (p.=)
c.1816-6816C>G (p.=)
c.562-333C>G (p.=)
1g.197102980G>TCA344023284ASPMn.2108-6816C>A
c.6271C>A (p.Leu2091Ile)
n.6271C>A (p.Leu2091Ile)
c.4066-6816C>A (p.=)
c.1816-6816C>A (p.=)
c.562-333C>A (p.=)
1g.197102981A>CCA344023285ASPMn.2108-6817T>G
c.6270T>G (p.Tyr2090Ter)
n.6270T>G (p.Tyr2090Ter)
c.4066-6817T>G (p.=)
c.1816-6817T>G (p.=)
c.562-334T>G (p.=)
1g.197102981A>GCA422806631ASPMn.2108-6817T>C
c.6270T>C (p.Tyr2090=)
n.6270T>C (p.Tyr2090=)
c.4066-6817T>C (p.=)
c.1816-6817T>C (p.=)
c.562-334T>C (p.=)
1g.197102981A>TCA344023286ASPMn.2108-6817T>A
c.6270T>A (p.Tyr2090Ter)
n.6270T>A (p.Tyr2090Ter)
c.4066-6817T>A (p.=)
c.1816-6817T>A (p.=)
c.562-334T>A (p.=)
1g.197102982T>ACA344023287ASPMn.2108-6818A>T
c.6269A>T (p.Tyr2090Phe)
n.6269A>T (p.Tyr2090Phe)
c.4066-6818A>T (p.=)
c.1816-6818A>T (p.=)
c.562-335A>T (p.=)
1g.197102982T>CCA344023288ASPMn.2108-6818A>G
c.6269A>G (p.Tyr2090Cys)
n.6269A>G (p.Tyr2090Cys)
c.4066-6818A>G (p.=)
c.1816-6818A>G (p.=)
c.562-335A>G (p.=)
1g.197102982T>GCA344023289ASPMn.2108-6818A>C
c.6269A>C (p.Tyr2090Ser)
n.6269A>C (p.Tyr2090Ser)
c.4066-6818A>C (p.=)
c.1816-6818A>C (p.=)
c.562-335A>C (p.=)

Number of alleles fetched