Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97691710C>ACA2646707071DPYDc.762+7G>T (n.762+7G>T)
n.533G>T
c.651+7G>T (n.651+7G>T)
c.267+7G>T (n.267+7G>T)
 gnomAD v4
1g.97691710C=CA1182979299DPYDc.762+7G= (n.762+7G=)
n.533G=
c.651+7G= (n.651+7G=)
c.267+7G= (n.267+7G=)
1g.97691710C>TCA524790375DPYDc.762+7G>A (n.762+7G>A)
n.533G>A
c.651+7G>A (n.651+7G>A)
c.267+7G>A (n.267+7G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.97691711A=CA1182979300DPYDc.762+6T= (n.762+6T=)
n.532T=
c.651+6T= (n.651+6T=)
c.267+6T= (n.267+6T=)
1g.97691711A>CCA1004794514DPYDc.762+6T>G (n.762+6T>G)
n.532T>G
c.651+6T>G (n.651+6T>G)
c.267+6T>G (n.267+6T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.97691711A>GCA524790376DPYDc.762+6T>C (n.762+6T>C)
n.532T>C
c.651+6T>C (n.651+6T>C)
c.267+6T>C (n.267+6T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.97691711A>TCA524790377DPYDc.762+6T>A (n.762+6T>A)
n.532T>A
c.651+6T>A (n.651+6T>A)
c.267+6T>A (n.267+6T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.97691712T>ACA740830857DPYDc.762+5A>T (n.762+5A>T)
n.531A>T
c.651+5A>T (n.651+5A>T)
c.267+5A>T (n.267+5A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.97691712T>CCA27624661DPYDc.762+5A>G (n.762+5A>G)
n.531A>G
c.651+5A>G (n.651+5A>G)
c.267+5A>G (n.267+5A>G)
 dbSNP
1g.97691712T=CA1182979301DPYDc.762+5A= (n.762+5A=)
n.531A=
c.651+5A= (n.651+5A=)
c.267+5A= (n.267+5A=)
1g.97691715A=CA1182979302DPYDc.762+2T= (n.762+2T=)
n.528T=
c.651+2T= (n.651+2T=)
c.267+2T= (n.267+2T=)
1g.97691715A>CCA341379173DPYDc.762+2T>G (n.762+2T>G)
n.528T>G
c.651+2T>G (n.651+2T>G)
c.267+2T>G (n.267+2T>G)
1g.97691715A>GCA16040812DPYDc.762+2T>C (n.762+2T>C)
n.528T>C
c.651+2T>C (n.651+2T>C)
c.267+2T>C (n.267+2T>C)
 ClinVar dbSNP gnomAD v4
1g.97691715A>TCA341379174DPYDc.762+2T>A (n.762+2T>A)
n.528T>A
c.651+2T>A (n.651+2T>A)
c.267+2T>A (n.267+2T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.97691716C>ACA341379175DPYDc.762+1G>T (n.762+1G>T)
n.527G>T
c.651+1G>T (n.651+1G>T)
c.267+1G>T (n.267+1G>T)
 gnomAD v4
1g.97691716C=CA1143906682DPYDc.762+1G= (n.762+1G=)
n.527G=
c.651+1G= (n.651+1G=)
c.267+1G= (n.267+1G=)
1g.97691716C>GCA341379176DPYDc.762+1G>C (n.762+1G>C)
n.527G>C
c.651+1G>C (n.651+1G>C)
c.267+1G>C (n.267+1G>C)
 gnomAD v4
1g.97691716C>TCA963572DPYDc.762+1G>A (n.762+1G>A)
n.527G>A
c.651+1G>A (n.651+1G>A)
c.267+1G>A (n.267+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97691717C>ACA341379177DPYDc.762G>T (p.Lys254Asn)
n.526G>T
c.651G>T (p.Lys217Asn)
c.267G>T (p.Lys89Asn)
 dbSNP
1g.97691717C=CA1182979303DPYDc.762G= (p.Lys254=)
n.526G=
c.651G= (p.Lys217=)
c.267G= (p.Lys89=)
1g.97691717C>GCA341379178DPYDc.762G>C (p.Lys254Asn)
n.526G>C
c.651G>C (p.Lys217Asn)
c.267G>C (p.Lys89Asn)
1g.97691717C>TCA419147863DPYDc.762G>A (p.Lys254=)
n.526G>A
c.651G>A (p.Lys217=)
c.267G>A (p.Lys89=)
 dbSNP gnomAD v2 gnomAD v4
1g.97691718T>ACA341379179DPYDc.761A>T (p.Lys254Met)
n.525A>T
c.650A>T (p.Lys217Met)
c.266A>T (p.Lys89Met)
1g.97691718T>CCA341379180DPYDc.761A>G (p.Lys254Arg)
n.525A>G
c.650A>G (p.Lys217Arg)
c.266A>G (p.Lys89Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.97691718T>GCA341379181DPYDc.761A>C (p.Lys254Thr)
n.525A>C
c.650A>C (p.Lys217Thr)
c.266A>C (p.Lys89Thr)
1g.97691718T=CA1182979304DPYDc.761A= (p.Lys254=)
n.525A=
c.650A= (p.Lys217=)
c.266A= (p.Lys89=)
1g.97691719T>ACA341379182DPYDc.760A>T (p.Lys254Ter)
n.524A>T
c.649A>T (p.Lys217Ter)
c.265A>T (p.Lys89Ter)
1g.97691719T>CCA341379184DPYDc.760A>G (p.Lys254Glu)
n.524A>G
c.649A>G (p.Lys217Glu)
c.265A>G (p.Lys89Glu)
1g.97691719T>GCA341379183DPYDc.760A>C (p.Lys254Gln)
n.524A>C
c.649A>C (p.Lys217Gln)
c.265A>C (p.Lys89Gln)
1g.97691720T>ACA419147866DPYDc.759A>T (p.Val253=)
n.523A>T
c.648A>T (p.Val216=)
c.264A>T (p.Val88=)
1g.97691720T>CCA419147864DPYDc.759A>G (p.Val253=)
n.523A>G
c.648A>G (p.Val216=)
c.264A>G (p.Val88=)
1g.97691720T>GCA419147865DPYDc.759A>C (p.Val253=)
n.523A>C
c.648A>C (p.Val216=)
c.264A>C (p.Val88=)
1g.97691721A>CCA341379185DPYDc.758T>G (p.Val253Gly)
n.522T>G
c.647T>G (p.Val216Gly)
c.263T>G (p.Val88Gly)
1g.97691721A>GCA341379186DPYDc.758T>C (p.Val253Ala)
n.522T>C
c.647T>C (p.Val216Ala)
c.263T>C (p.Val88Ala)
1g.97691721A>TCA341379187DPYDc.758T>A (p.Val253Glu)
n.522T>A
c.647T>A (p.Val216Glu)
c.263T>A (p.Val88Glu)
1g.97691722C>ACA341379188DPYDc.757G>T (p.Val253Leu)
n.521G>T
c.646G>T (p.Val216Leu)
c.262G>T (p.Val88Leu)
1g.97691722C>GCA341379189DPYDc.757G>C (p.Val253Leu)
n.521G>C
c.646G>C (p.Val216Leu)
c.262G>C (p.Val88Leu)
1g.97691722C>TCA341379190DPYDc.757G>A (p.Val253Ile)
n.521G>A
c.646G>A (p.Val216Ile)
c.262G>A (p.Val88Ile)
1g.97691723A=CA1140088165DPYDc.756T= (p.Gly252=)
n.520T=
c.645T= (p.Gly215=)
c.261T= (p.Gly87=)
1g.97691723A>CCA419147867DPYDc.756T>G (p.Gly252=)
n.520T>G
c.645T>G (p.Gly215=)
c.261T>G (p.Gly87=)
1g.97691723A>GCA27624667DPYDc.756T>C (p.Gly252=)
n.520T>C
c.645T>C (p.Gly215=)
c.261T>C (p.Gly87=)
 dbSNP gnomAD v4
1g.97691723A>TCA419147868DPYDc.756T>A (p.Gly252=)
n.520T>A
c.645T>A (p.Gly215=)
c.261T>A (p.Gly87=)
1g.97691724C>ACA341379191DPYDc.755G>T (p.Gly252Val)
n.519G>T
c.644G>T (p.Gly215Val)
c.260G>T (p.Gly87Val)
 gnomAD v4 COSMIC
1g.97691724C=CA1182979305DPYDc.755G= (p.Gly252=)
n.519G=
c.644G= (p.Gly215=)
c.260G= (p.Gly87=)
1g.97691724C>GCA341379192DPYDc.755G>C (p.Gly252Ala)
n.519G>C
c.644G>C (p.Gly215Ala)
c.260G>C (p.Gly87Ala)
 dbSNP
1g.97691724C>TCA341379193DPYDc.755G>A (p.Gly252Asp)
n.519G>A
c.644G>A (p.Gly215Asp)
c.260G>A (p.Gly87Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.97691725C>ACA963573DPYDc.754G>T (p.Gly252Cys)
n.518G>T
c.643G>T (p.Gly215Cys)
c.259G>T (p.Gly87Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97691725C=CA1182979306DPYDc.754G= (p.Gly252=)
n.518G=
c.643G= (p.Gly215=)
c.259G= (p.Gly87=)
1g.97691725C>GCA341379194DPYDc.754G>C (p.Gly252Arg)
n.518G>C
c.643G>C (p.Gly215Arg)
c.259G>C (p.Gly87Arg)
 gnomAD v4
1g.97691725C>TCA341379195DPYDc.754G>A (p.Gly252Ser)
n.518G>A
c.643G>A (p.Gly215Ser)
c.259G>A (p.Gly87Ser)
 dbSNP

Number of alleles fetched