Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31524701_31524709delinsAGCTTGAAGCA2293857286DSG2n.660-2_666delinsAGCTTGAAG
c.660-2_666delinsAGCTTGAAG
c.829-2_835delinsAGCTTGAAG
c.295-2_301delinsAGCTTGAAG
18g.31524701_31524713delinsAGCTTGAAGGGATCA2293857285DSG2n.660-2_670delinsAGCTTGAAGGGAT
c.660-2_670delinsAGCTTGAAGGGAT
c.829-2_839delinsAGCTTGAAGGGAT
c.295-2_305delinsAGCTTGAAGGGAT
18g.31524703_31524710delCA778437092DSG2n.660_667del
c.660_667del
c.829_836del
c.295_302del
 dbSNP
18g.31524703_31524714delCA022276DSG2n.660_671del
c.660_671del
c.829_840del
c.295_306del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524703_31524715delCA2695227358DSG2n.660_672del
c.660_672del
c.829_841del
c.295_307del
18g.31524703C>ACA402135360DSG2n.660C>A
c.660C>A
c.829C>A (p.Leu277Ile)
c.295C>A (p.Leu99Ile)
18g.31524703C>GCA402135362DSG2n.660C>G
c.660C>G
c.829C>G (p.Leu277Val)
c.295C>G (p.Leu99Val)
18g.31524703C>TCA402135363DSG2n.660C>T
c.660C>T
c.829C>T (p.Leu277Phe)
c.295C>T (p.Leu99Phe)
18g.31524704T>ACA402135367DSG2n.661T>A
c.661T>A
c.830T>A (p.Leu277His)
c.296T>A (p.Leu99His)
18g.31524704T>CCA402135366DSG2n.661T>C
c.661T>C
c.830T>C (p.Leu277Pro)
c.296T>C (p.Leu99Pro)
18g.31524704T>GCA402135364DSG2n.661T>G
c.661T>G
c.830T>G (p.Leu277Arg)
c.296T>G (p.Leu99Arg)
18g.31524705T>ACA503599237DSG2n.662T>A
c.662T>A
c.831T>A (p.Leu277=)
c.297T>A (p.Leu99=)
18g.31524705T>CCA503599238DSG2n.662T>C
c.662T>C
c.831T>C (p.Leu277=)
c.297T>C (p.Leu99=)
 gnomAD v4
18g.31524705T>GCA503599239DSG2n.662T>G
c.662T>G
c.831T>G (p.Leu277=)
c.297T>G (p.Leu99=)
18g.31524706G>ACA402135369DSG2n.663G>A
c.663G>A
c.832G>A (p.Glu278Lys)
c.298G>A (p.Glu100Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31524706G>CCA402135370DSG2n.663G>C
c.663G>C
c.832G>C (p.Glu278Gln)
c.298G>C (p.Glu100Gln)
18g.31524706G=CA2293857295DSG2n.663G=
c.663G=
c.832G= (p.Glu278=)
c.298G= (p.Glu100=)
18g.31524706G>TCA402135372DSG2n.663G>T
c.663G>T
c.832G>T (p.Glu278Ter)
c.298G>T (p.Glu100Ter)
18g.31524707A=CA2293857298DSG2n.664A=
c.664A=
c.833A= (p.Glu278=)
c.299A= (p.Glu100=)
18g.31524707A>CCA402135374DSG2n.664A>C
c.664A>C
c.833A>C (p.Glu278Ala)
c.299A>C (p.Glu100Ala)
18g.31524707A>GCA402135376DSG2n.664A>G
c.664A>G
c.833A>G (p.Glu278Gly)
c.299A>G (p.Glu100Gly)
 gnomAD v4
18g.31524707A>TCA402135377DSG2n.664A>T
c.664A>T
c.833A>T (p.Glu278Val)
c.299A>T (p.Glu100Val)
 dbSNP
18g.31524708A=CA2293857301DSG2n.665A=
c.665A=
c.834A= (p.Glu278=)
c.300A= (p.Glu100=)
18g.31524708A>CCA402135379DSG2n.665A>C
c.665A>C
c.834A>C (p.Glu278Asp)
c.300A>C (p.Glu100Asp)
18g.31524708A>GCA503599241DSG2n.665A>G
c.665A>G
c.834A>G (p.Glu278=)
c.300A>G (p.Glu100=)
 ClinVar dbSNP
18g.31524708A>TCA402135380DSG2n.665A>T
c.665A>T
c.834A>T (p.Glu278Asp)
c.300A>T (p.Glu100Asp)
18g.31524709G>ACA402135381DSG2n.666G>A
c.666G>A
c.835G>A (p.Gly279Arg)
c.301G>A (p.Gly101Arg)
18g.31524709G>CCA402135383DSG2n.666G>C
c.666G>C
c.835G>C (p.Gly279Arg)
c.301G>C (p.Gly101Arg)
18g.31524709G>TCA402135384DSG2n.666G>T
c.666G>T
c.835G>T (p.Gly279Trp)
c.301G>T (p.Gly101Trp)
18g.31524710G>ACA402135385DSG2n.667G>A
c.667G>A
c.836G>A (p.Gly279Glu)
c.302G>A (p.Gly101Glu)
18g.31524710G>CCA402135386DSG2n.667G>C
c.667G>C
c.836G>C (p.Gly279Ala)
c.302G>C (p.Gly101Ala)
18g.31524710G>TCA402135387DSG2n.667G>T
c.667G>T
c.836G>T (p.Gly279Val)
c.302G>T (p.Gly101Val)
18g.31524711G>ACA297732069DSG2n.668G>A
c.668G>A
c.837G>A (p.Gly279=)
c.303G>A (p.Gly101=)
 dbSNP
18g.31524711G>CCA503599243DSG2n.668G>C
c.668G>C
c.837G>C (p.Gly279=)
c.303G>C (p.Gly101=)
18g.31524711G=CA2293857306DSG2n.668G=
c.668G=
c.837G= (p.Gly279=)
c.303G= (p.Gly101=)
18g.31524711G>TCA503599242DSG2n.668G>T
c.668G>T
c.837G>T (p.Gly279=)
c.303G>T (p.Gly101=)
18g.31524712A=CA2293857309DSG2n.669A=
c.669A=
c.838A= (p.Met280=)
c.304A= (p.Met102=)
18g.31524712A>CCA402135389DSG2n.669A>C
c.669A>C
c.838A>C (p.Met280Leu)
c.304A>C (p.Met102Leu)
 ClinVar dbSNP
18g.31524712A>GCA402135390DSG2n.669A>G
c.669A>G
c.838A>G (p.Met280Val)
c.304A>G (p.Met102Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31524712A>TCA402135388DSG2n.669A>T
c.669A>T
c.838A>T (p.Met280Leu)
c.304A>T (p.Met102Leu)
 gnomAD v4
18g.31524713T>ACA402135392DSG2n.670T>A
c.670T>A
c.839T>A (p.Met280Lys)
c.305T>A (p.Met102Lys)
18g.31524713T>CCA297732071DSG2n.670T>C
c.670T>C
c.839T>C (p.Met280Thr)
c.305T>C (p.Met102Thr)
 ClinVar dbSNP gnomAD v4
18g.31524713T>GCA402135395DSG2n.670T>G
c.670T>G
c.839T>G (p.Met280Arg)
c.305T>G (p.Met102Arg)
18g.31524713T=CA2293857313DSG2n.670T=
c.670T=
c.839T= (p.Met280=)
c.305T= (p.Met102=)
18g.31524714G>ACA402135396DSG2n.671G>A
c.671G>A
c.840G>A (p.Met280Ile)
c.306G>A (p.Met102Ile)
18g.31524714G>CCA402135397DSG2n.671G>C
c.671G>C
c.840G>C (p.Met280Ile)
c.306G>C (p.Met102Ile)
18g.31524714G>TCA402135399DSG2n.671G>T
c.671G>T
c.840G>T (p.Met280Ile)
c.306G>T (p.Met102Ile)
18g.31524715G>ACA022282DSG2n.672G>A
c.672G>A
c.841G>A (p.Val281Ile)
c.307G>A (p.Val103Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524715G>CCA402135402DSG2n.672G>C
c.672G>C
c.841G>C (p.Val281Leu)
c.307G>C (p.Val103Leu)
18g.31524715G=CA2293857317DSG2n.672G=
c.672G=
c.841G= (p.Val281=)
c.307G= (p.Val103=)

Number of alleles fetched