Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67545785G>ACA10436303ARc.639G>A (p.Glu213=)
n.966G>A
c.69G>A (p.Glu23=)
c.-1145G>A (p.=)
ClinVar dbSNP ExAC gnomAD COSMIC COSMIC
Xg.67545785G>CCA413425324ARc.639G>C (p.Glu213Asp)
n.966G>C
c.69G>C (p.Glu23Asp)
c.-1145G>C (p.=)
Xg.67545785G>TCA413425323ARc.639G>T (p.Glu213Asp)
n.966G>T
c.69G>T (p.Glu23Asp)
c.-1145G>T (p.=)
Xg.67545785_67545787delinsACA920417017ARc.639_641delinsA (p.Ala214LeufsTer20)
n.966_968delinsA
c.69_71delinsA (p.Ala24LeufsTer20)
c.-1145_-1143delinsA (p.=)
dbSNP
Xg.67545786G>ACA413425325ARc.640G>A (p.Ala214Thr)
n.967G>A
c.70G>A (p.Ala24Thr)
c.-1144G>A (p.=)
Xg.67545786G>CCA413425326ARc.640G>C (p.Ala214Pro)
n.967G>C
c.70G>C (p.Ala24Pro)
c.-1144G>C (p.=)
Xg.67545786G>TCA413425327ARc.640G>T (p.Ala214Ser)
n.967G>T
c.70G>T (p.Ala24Ser)
c.-1144G>T (p.=)
Xg.67545786_67545787delCA920417019ARc.640_641del (p.Ala214LeufsTer20)
n.967_968del
c.70_71del (p.Ala24LeufsTer20)
c.-1144_-1143del (p.=)
dbSNP
Xg.67545787C>ACA413425328ARc.641C>A (p.Ala214Asp)
n.968C>A
c.71C>A (p.Ala24Asp)
c.-1143C>A (p.=)
Xg.67545787C>GCA413425329ARc.641C>G (p.Ala214Gly)
n.968C>G
c.71C>G (p.Ala24Gly)
c.-1143C>G (p.=)
Xg.67545787C>TCA413425330ARc.641C>T (p.Ala214Val)
n.968C>T
c.71C>T (p.Ala24Val)
c.-1143C>T (p.=)
Xg.67545788C>ACA517048181ARc.642C>A (p.Ala214=)
n.969C>A
c.72C>A (p.Ala24=)
c.-1142C>A (p.=)
Xg.67545788C>GCA517048184ARc.642C>G (p.Ala214=)
n.969C>G
c.72C>G (p.Ala24=)
c.-1142C>G (p.=)
Xg.67545788C>TCA517048186ARc.642C>T (p.Ala214=)
n.969C>T
c.72C>T (p.Ala24=)
c.-1142C>T (p.=)
Xg.67545789T>ACA413425331ARc.643T>A (p.Ser215Thr)
n.970T>A
c.73T>A (p.Ser25Thr)
c.-1141T>A (p.=)
Xg.67545789T>CCA413425333ARc.643T>C (p.Ser215Pro)
n.970T>C
c.73T>C (p.Ser25Pro)
c.-1141T>C (p.=)
Xg.67545789T>GCA413425332ARc.643T>G (p.Ser215Ala)
n.970T>G
c.73T>G (p.Ser25Ala)
c.-1141T>G (p.=)
Xg.67545790C>ACA413425334ARc.644C>A (p.Ser215Ter)
n.971C>A
c.74C>A (p.Ser25Ter)
c.-1140C>A (p.=)
Xg.67545790C>GCA413425335ARc.644C>G (p.Ser215Trp)
n.971C>G
c.74C>G (p.Ser25Trp)
c.-1140C>G (p.=)
Xg.67545790C>TCA413425336ARc.644C>T (p.Ser215Leu)
n.971C>T
c.74C>T (p.Ser25Leu)
c.-1140C>T (p.=)
COSMIC COSMIC
Xg.67545791G>ACA517048196ARc.645G>A (p.Ser215=)
n.972G>A
c.75G>A (p.Ser25=)
c.-1139G>A (p.=)
gnomAD
Xg.67545791G>CCA517048198ARc.645G>C (p.Ser215=)
n.972G>C
c.75G>C (p.Ser25=)
c.-1139G>C (p.=)
Xg.67545791G>TCA10436304ARc.645G>T (p.Ser215=)
n.972G>T
c.75G>T (p.Ser25=)
c.-1139G>T (p.=)
dbSNP ExAC gnomAD
Xg.67545792G>ACA10436305ARc.646G>A (p.Gly216Arg)
n.973G>A
c.76G>A (p.Gly26Arg)
c.-1138G>A (p.=)
ClinVar dbSNP ExAC gnomAD
Xg.67545792G>CCA10436306ARc.646G>C (p.Gly216Arg)
n.973G>C
c.76G>C (p.Gly26Arg)
c.-1138G>C (p.=)
dbSNP ExAC gnomAD
Xg.67545792G>TCA413425337ARc.646G>T (p.Gly216Trp)
n.973G>T
c.76G>T (p.Gly26Trp)
c.-1138G>T (p.=)
Xg.67545793G>ACA413425338ARc.647G>A (p.Gly216Glu)
n.974G>A
c.77G>A (p.Gly26Glu)
c.-1137G>A (p.=)
Xg.67545793G>CCA413425340ARc.647G>C (p.Gly216Ala)
n.974G>C
c.77G>C (p.Gly26Ala)
c.-1137G>C (p.=)
Xg.67545793G>TCA413425339ARc.647G>T (p.Gly216Val)
n.974G>T
c.77G>T (p.Gly26Val)
c.-1137G>T (p.=)
Xg.67545794G>ACA517048207ARc.648G>A (p.Gly216=)
n.975G>A
c.78G>A (p.Gly26=)
c.-1136G>A (p.=)
Xg.67545794G>CCA517048210ARc.648G>C (p.Gly216=)
n.975G>C
c.78G>C (p.Gly26=)
c.-1136G>C (p.=)
Xg.67545794G>TCA517048212ARc.648G>T (p.Gly216=)
n.975G>T
c.78G>T (p.Gly26=)
c.-1136G>T (p.=)
Xg.67545795G>ACA413425341ARc.649G>A (p.Ala217Thr)
n.976G>A
c.79G>A (p.Ala27Thr)
c.-1135G>A (p.=)
Xg.67545795G>CCA413425343ARc.649G>C (p.Ala217Pro)
n.976G>C
c.79G>C (p.Ala27Pro)
c.-1135G>C (p.=)
Xg.67545795G>TCA413425342ARc.649G>T (p.Ala217Ser)
n.976G>T
c.79G>T (p.Ala27Ser)
c.-1135G>T (p.=)
Xg.67545796C>ACA413425344ARc.650C>A (p.Ala217Asp)
n.977C>A
c.80C>A (p.Ala27Asp)
c.-1134C>A (p.=)
Xg.67545796C>GCA413425346ARc.650C>G (p.Ala217Gly)
n.977C>G
c.80C>G (p.Ala27Gly)
c.-1134C>G (p.=)
Xg.67545796C>TCA413425345ARc.650C>T (p.Ala217Val)
n.977C>T
c.80C>T (p.Ala27Val)
c.-1134C>T (p.=)
Xg.67545797T>ACA517048215ARc.651T>A (p.Ala217=)
n.978T>A
c.81T>A (p.Ala27=)
c.-1133T>A (p.=)
Xg.67545797T>CCA517048216ARc.651T>C (p.Ala217=)
n.978T>C
c.81T>C (p.Ala27=)
c.-1133T>C (p.=)
Xg.67545797T>GCA517048217ARc.651T>G (p.Ala217=)
n.978T>G
c.81T>G (p.Ala27=)
c.-1133T>G (p.=)
Xg.67545798C>ACA413425347ARc.652C>A (p.Pro218Thr)
n.979C>A
c.82C>A (p.Pro28Thr)
c.-1132C>A (p.=)
Xg.67545798C>GCA413425349ARc.652C>G (p.Pro218Ala)
n.979C>G
c.82C>G (p.Pro28Ala)
c.-1132C>G (p.=)
Xg.67545798C>TCA413425348ARc.652C>T (p.Pro218Ser)
n.979C>T
c.82C>T (p.Pro28Ser)
c.-1132C>T (p.=)
Xg.67545799C>ACA413425350ARc.653C>A (p.Pro218His)
n.980C>A
c.83C>A (p.Pro28His)
c.-1131C>A (p.=)
Xg.67545799C>GCA413425352ARc.653C>G (p.Pro218Arg)
n.980C>G
c.83C>G (p.Pro28Arg)
c.-1131C>G (p.=)
Xg.67545799C>TCA413425351ARc.653C>T (p.Pro218Leu)
n.980C>T
c.83C>T (p.Pro28Leu)
c.-1131C>T (p.=)
Xg.67545800C>ACA517048229ARc.654C>A (p.Pro218=)
n.981C>A
c.84C>A (p.Pro28=)
c.-1130C>A (p.=)
Xg.67545800C>GCA517048233ARc.654C>G (p.Pro218=)
n.981C>G
c.84C>G (p.Pro28=)
c.-1130C>G (p.=)
Xg.67545800C>TCA10436307ARc.654C>T (p.Pro218=)
n.981C>T
c.84C>T (p.Pro28=)
c.-1130C>T (p.=)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched