Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.15445688_15445718delinsACACCCGCAAGAAGCCGGTAGTCTACACCCGCA1144232719CTRCc.731_761delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (p.Asn244=)
c.*185_*215delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (n.*185_*215delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG)
n.495_525delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG
c.585_615delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (p.Gln195=)
1g.15445695_15445718delCA345648CTRCc.738_761del (p.Lys247_Arg254del)
c.*192_*215del (n.*192_*215del)
n.502_525del
c.592_615del (p.Gln198_Pro205del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445717C>ACA416207426CTRCc.760C>A (p.Arg254=)
c.*214C>A (n.*214C>A)
n.524C>A
c.614C>A (p.Pro205Gln)
1g.15445717C=CA1141580597CTRCc.760C= (p.Arg254=)
c.*214C= (n.*214C=)
n.524C=
c.614C= (p.Pro205=)
1g.15445717C>GCA338567920CTRCc.760C>G (p.Arg254Gly)
c.*214C>G (n.*214C>G)
n.524C>G
c.614C>G (p.Pro205Arg)
1g.15445717C>TCA119351CTRCc.760C>T (p.Arg254Trp)
c.*214C>T (n.*214C>T)
n.524C>T
c.614C>T (p.Pro205Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445718G>ACA613463CTRCc.761G>A (p.Arg254Gln)
c.*215G>A (n.*215G>A)
n.525G>A
c.615G>A (p.Pro205=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445718G>CCA613464CTRCc.761G>C (p.Arg254Pro)
c.*215G>C (n.*215G>C)
n.525G>C
c.615G>C (p.Pro205=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445718G=CA1155328764CTRCc.761G= (p.Arg254=)
c.*215G= (n.*215G=)
n.525G=
c.615G= (p.Pro205=)
1g.15445718G>TCA338567926CTRCc.761G>T (p.Arg254Leu)
c.*215G>T (n.*215G>T)
n.525G>T
c.615G>T (p.Pro205=)
1g.15445720delCA2500775821CTRCc.763del (p.Val255CysfsTer?)
c.*217del (n.*217del)
n.527del
c.617del (p.Gly206ValfsTer15)
 gnomAD v4
1g.15445719G>ACA416207430CTRCc.762G>A (p.Arg254=)
c.*216G>A (n.*216G>A)
n.526G>A
c.616G>A (p.Gly206Ser)
 ClinVar
1g.15445719G>CCA416207431CTRCc.762G>C (p.Arg254=)
c.*216G>C (n.*216G>C)
n.526G>C
c.616G>C (p.Gly206Arg)
 ClinVar
1g.15445719G=CA1149038692CTRCc.762G= (p.Arg254=)
c.*216G= (n.*216G=)
n.526G=
c.616G= (p.Gly206=)
1g.15445719G>TCA613465CTRCc.762G>T (p.Arg254=)
c.*216G>T (n.*216G>T)
n.526G>T
c.616G>T (p.Gly206Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445720G>ACA18253843CTRCc.763G>A (p.Val255Met)
c.*217G>A (n.*217G>A)
n.527G>A
c.617G>A (p.Gly206Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.15445720G>CCA338567934CTRCc.763G>C (p.Val255Leu)
c.*217G>C (n.*217G>C)
n.527G>C
c.617G>C (p.Gly206Ala)
 ClinVar
1g.15445720G=CA1141199444CTRCc.763G= (p.Val255=)
c.*217G= (n.*217G=)
n.527G=
c.617G= (p.Gly206=)
1g.15445720G>TCA338567935CTRCc.763G>T (p.Val255Leu)
c.*217G>T (n.*217G>T)
n.527G>T
c.617G>T (p.Gly206Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.15445721T>ACA338567938CTRCc.764T>A (p.Val255Glu)
c.*218T>A (n.*218T>A)
n.528T>A
c.618T>A (p.Gly206=)
 ClinVar dbSNP gnomAD v4
1g.15445721T>CCA338567939CTRCc.764T>C (p.Val255Ala)
c.*218T>C (n.*218T>C)
n.528T>C
c.618T>C (p.Gly206=)
1g.15445721T>GCA338567942CTRCc.764T>G (p.Val255Gly)
c.*218T>G (n.*218T>G)
n.528T>G
c.618T>G (p.Gly206=)
 ClinVar dbSNP
1g.15445721T=CA1155328779CTRCc.764T= (p.Val255=)
c.*218T= (n.*218T=)
n.528T=
c.618T= (p.Gly206=)
1g.15445722G>ACA416207433CTRCc.765G>A (p.Val255=)
c.*219G>A (n.*219G>A)
n.529G>A
c.619G>A (p.Val207Ile)
 ClinVar dbSNP gnomAD v4
1g.15445722G>CCA416207435CTRCc.765G>C (p.Val255=)
c.*219G>C (n.*219G>C)
n.529G>C
c.619G>C (p.Val207Leu)
1g.15445722G=CA1155328781CTRCc.765G= (p.Val255=)
c.*219G= (n.*219G=)
n.529G=
c.619G= (p.Val207=)
1g.15445722G>TCA416207434CTRCc.765G>T (p.Val255=)
c.*219G>T (n.*219G>T)
n.529G>T
c.619G>T (p.Val207Phe)
1g.15445723T>ACA338567950CTRCc.766T>A (p.Ser256Thr)
c.*220T>A (n.*220T>A)
n.530T>A
c.620T>A (p.Val207Asp)
1g.15445723T>CCA338567948CTRCc.766T>C (p.Ser256Pro)
c.*220T>C (n.*220T>C)
n.530T>C
c.620T>C (p.Val207Ala)
1g.15445723T>GCA338567947CTRCc.766T>G (p.Ser256Ala)
c.*220T>G (n.*220T>G)
n.530T>G
c.620T>G (p.Val207Gly)
1g.15445724C>ACA338567953CTRCc.767C>A (p.Ser256Tyr)
c.*221C>A (n.*221C>A)
n.531C>A
c.621C>A (p.Val207=)
1g.15445724C=CA1155328787CTRCc.767C= (p.Ser256=)
c.*221C= (n.*221C=)
n.531C=
c.621C= (p.Val207=)
1g.15445724C>GCA613466CTRCc.767C>G (p.Ser256Cys)
c.*221C>G (n.*221C>G)
n.531C>G
c.621C>G (p.Val207=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445724C>TCA338567956CTRCc.767C>T (p.Ser256Phe)
c.*221C>T (n.*221C>T)
n.531C>T
c.621C>T (p.Val207=)
1g.15445725C>ACA416207440CTRCc.768C>A (p.Ser256=)
c.*222C>A (n.*222C>A)
n.532C>A
c.622C>A (p.Arg208Ser)
1g.15445725C=CA1155328792CTRCc.768C= (p.Ser256=)
c.*222C= (n.*222C=)
n.532C=
c.622C= (p.Arg208=)
1g.15445725C>GCA416207438CTRCc.768C>G (p.Ser256=)
c.*222C>G (n.*222C>G)
n.532C>G
c.622C>G (p.Arg208Gly)
1g.15445725C>TCA613467CTRCc.768C>T (p.Ser256=)
c.*222C>T (n.*222C>T)
n.532C>T
c.622C>T (p.Arg208Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445726G>ACA613468CTRCc.769G>A (p.Ala257Thr)
c.*223G>A (n.*223G>A)
n.533G>A
c.623G>A (p.Arg208His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445726G>CCA338567963CTRCc.769G>C (p.Ala257Pro)
c.*223G>C (n.*223G>C)
n.533G>C
c.623G>C (p.Arg208Pro)
1g.15445726G=CA1143414703CTRCc.769G= (p.Ala257=)
c.*223G= (n.*223G=)
n.533G=
c.623G= (p.Arg208=)
1g.15445726G>TCA338567966CTRCc.769G>T (p.Ala257Ser)
c.*223G>T (n.*223G>T)
n.533G>T
c.623G>T (p.Arg208Leu)
1g.15445727C>ACA338567970CTRCc.770C>A (p.Ala257Asp)
c.*224C>A (n.*224C>A)
n.534C>A
c.624C>A (p.Arg208=)
 gnomAD v4
1g.15445727C>GCA338567972CTRCc.770C>G (p.Ala257Gly)
c.*224C>G (n.*224C>G)
n.534C>G
c.624C>G (p.Arg208=)
1g.15445727C>TCA338567974CTRCc.770C>T (p.Ala257Val)
c.*224C>T (n.*224C>T)
n.534C>T
c.624C>T (p.Arg208=)
1g.15445728delCA2643487265CTRCc.771del (p.Tyr258ThrfsTer?)
c.*225del (n.*225del)
n.535del
c.625del (p.Leu209TyrfsTer12)
 gnomAD v4
1g.15445728C>ACA416207445CTRCc.771C>A (p.Ala257=)
c.*225C>A (n.*225C>A)
n.535C>A
c.625C>A (p.Leu209Ile)
1g.15445728C=CA1155328803CTRCc.771C= (p.Ala257=)
c.*225C= (n.*225C=)
n.535C=
c.625C= (p.Leu209=)
1g.15445728C>GCA416207444CTRCc.771C>G (p.Ala257=)
c.*225C>G (n.*225C>G)
n.535C>G
c.625C>G (p.Leu209Val)
1g.15445728C>TCA416207442CTRCc.771C>T (p.Ala257=)
c.*225C>T (n.*225C>T)
n.535C>T
c.625C>T (p.Leu209=)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched