Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169541913A>CCA343119111F5c.3177T>G (p.Phe1059Leu)
c.3192T>G (p.Phe1064Leu)
c.2766T>G (p.Phe922Leu)
1g.169541913A>GCA421930635F5c.3177T>C (p.Phe1059=)
c.3192T>C (p.Phe1064=)
c.2766T>C (p.Phe922=)
1g.169541913A>TCA343119112F5c.3177T>A (p.Phe1059Leu)
c.3192T>A (p.Phe1064Leu)
c.2766T>A (p.Phe922Leu)
1g.169541914A>CCA343119113F5c.3176T>G (p.Phe1059Cys)
c.3191T>G (p.Phe1064Cys)
c.2765T>G (p.Phe922Cys)
1g.169541914A>GCA343119114F5c.3176T>C (p.Phe1059Ser)
c.3191T>C (p.Phe1064Ser)
c.2765T>C (p.Phe922Ser)
1g.169541914A>TCA343119115F5c.3176T>A (p.Phe1059Tyr)
c.3191T>A (p.Phe1064Tyr)
c.2765T>A (p.Phe922Tyr)
1g.169541915A>CCA343119116F5c.3175T>G (p.Phe1059Val)
c.3190T>G (p.Phe1064Val)
c.2764T>G (p.Phe922Val)
1g.169541915A>GCA343119118F5c.3175T>C (p.Phe1059Leu)
c.3190T>C (p.Phe1064Leu)
c.2764T>C (p.Phe922Leu)
1g.169541915A>TCA343119117F5c.3175T>A (p.Phe1059Ile)
c.3190T>A (p.Phe1064Ile)
c.2764T>A (p.Phe922Ile)
1g.169541915_169541920delinsATGTGTCA1206132524F5c.3170_3175delinsACACAT (p.Asn1057=)
c.3185_3190delinsACACAT (p.Asn1062=)
c.2759_2764delinsACACAT (p.Asn920=)
1g.169541916T>ACA421930638F5c.3174A>T (p.Thr1058=)
c.3189A>T (p.Thr1063=)
c.2763A>T (p.Thr921=)
 dbSNP
1g.169541916T>CCA1233958F5c.3174A>G (p.Thr1058=)
c.3189A>G (p.Thr1063=)
c.2763A>G (p.Thr921=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541916T>GCA421930639F5c.3174A>C (p.Thr1058=)
c.3189A>C (p.Thr1063=)
c.2763A>C (p.Thr921=)
1g.169541916T=CA1148296537F5c.3174A= (p.Thr1058=)
c.3189A= (p.Thr1063=)
c.2763A= (p.Thr921=)
1g.169541919_169541923delCA915943655F5c.3170_3174del (p.Asn1057IlefsTer7)
c.3185_3189del (p.Asn1062IlefsTer7)
c.2759_2763del (p.Asn920IlefsTer7)
 ClinVar dbSNP
1g.169541917G>ACA1233959F5c.3173C>T (p.Thr1058Ile)
c.3188C>T (p.Thr1063Ile)
c.2762C>T (p.Thr921Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541917G>CCA343119119F5c.3173C>G (p.Thr1058Arg)
c.3188C>G (p.Thr1063Arg)
c.2762C>G (p.Thr921Arg)
1g.169541917G=CA1206132528F5c.3173C= (p.Thr1058=)
c.3188C= (p.Thr1063=)
c.2762C= (p.Thr921=)
1g.169541917G>TCA343119120F5c.3173C>A (p.Thr1058Lys)
c.3188C>A (p.Thr1063Lys)
c.2762C>A (p.Thr921Lys)
 dbSNP gnomAD v4
1g.169541918T>ACA343119121F5c.3172A>T (p.Thr1058Ser)
c.3187A>T (p.Thr1063Ser)
c.2761A>T (p.Thr921Ser)
 gnomAD v4
1g.169541918T>CCA343119122F5c.3172A>G (p.Thr1058Ala)
c.3187A>G (p.Thr1063Ala)
c.2761A>G (p.Thr921Ala)
1g.169541918T>GCA343119123F5c.3172A>C (p.Thr1058Pro)
c.3187A>C (p.Thr1063Pro)
c.2761A>C (p.Thr921Pro)
1g.169541919G>ACA421930641F5c.3171C>T (p.Asn1057=)
c.3186C>T (p.Asn1062=)
c.2760C>T (p.Asn920=)
1g.169541919G>CCA343119124F5c.3171C>G (p.Asn1057Lys)
c.3186C>G (p.Asn1062Lys)
c.2760C>G (p.Asn920Lys)
1g.169541919G>TCA343119125F5c.3171C>A (p.Asn1057Lys)
c.3186C>A (p.Asn1062Lys)
c.2760C>A (p.Asn920Lys)
 COSMIC
1g.169541920T>ACA343119126F5c.3170A>T (p.Asn1057Ile)
c.3185A>T (p.Asn1062Ile)
c.2759A>T (p.Asn920Ile)
1g.169541920T>CCA343119127F5c.3170A>G (p.Asn1057Ser)
c.3185A>G (p.Asn1062Ser)
c.2759A>G (p.Asn920Ser)
1g.169541920T>GCA343119128F5c.3170A>C (p.Asn1057Thr)
c.3185A>C (p.Asn1062Thr)
c.2759A>C (p.Asn920Thr)
1g.169541921T>ACA343119130F5c.3169A>T (p.Asn1057Tyr)
c.3184A>T (p.Asn1062Tyr)
c.2758A>T (p.Asn920Tyr)
1g.169541921T>CCA343119131F5c.3169A>G (p.Asn1057Asp)
c.3184A>G (p.Asn1062Asp)
c.2758A>G (p.Asn920Asp)
1g.169541921T>GCA343119129F5c.3169A>C (p.Asn1057His)
c.3184A>C (p.Asn1062His)
c.2758A>C (p.Asn920His)
1g.169541922G>ACA421930644F5c.3168C>T (p.Tyr1056=)
c.3183C>T (p.Tyr1061=)
c.2757C>T (p.Tyr919=)
 ClinVar
1g.169541922G>CCA343119133F5c.3168C>G (p.Tyr1056Ter)
c.3183C>G (p.Tyr1061Ter)
c.2757C>G (p.Tyr919Ter)
1g.169541922G=CA1206132529F5c.3168C= (p.Tyr1056=)
c.3183C= (p.Tyr1061=)
c.2757C= (p.Tyr919=)
1g.169541922G>TCA343119132F5c.3168C>A (p.Tyr1056Ter)
c.3183C>A (p.Tyr1061Ter)
c.2757C>A (p.Tyr919Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.169541923T>ACA343119134F5c.3167A>T (p.Tyr1056Phe)
c.3182A>T (p.Tyr1061Phe)
c.2756A>T (p.Tyr919Phe)
1g.169541923T>CCA1233960F5c.3167A>G (p.Tyr1056Cys)
c.3182A>G (p.Tyr1061Cys)
c.2756A>G (p.Tyr919Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541923T>GCA343119135F5c.3167A>C (p.Tyr1056Ser)
c.3182A>C (p.Tyr1061Ser)
c.2756A>C (p.Tyr919Ser)
1g.169541923T=CA1206132531F5c.3167A= (p.Tyr1056=)
c.3182A= (p.Tyr1061=)
c.2756A= (p.Tyr919=)
1g.169541924A>CCA343119136F5c.3166T>G (p.Tyr1056Asp)
c.3181T>G (p.Tyr1061Asp)
c.2755T>G (p.Tyr919Asp)
1g.169541924A>GCA343119137F5c.3166T>C (p.Tyr1056His)
c.3181T>C (p.Tyr1061His)
c.2755T>C (p.Tyr919His)
1g.169541924A>TCA343119138F5c.3166T>A (p.Tyr1056Asn)
c.3181T>A (p.Tyr1061Asn)
c.2755T>A (p.Tyr919Asn)
1g.169541925G>ACA421930650F5c.3165C>T (p.Ala1055=)
c.3180C>T (p.Ala1060=)
c.2754C>T (p.Ala918=)
1g.169541925G>CCA421930649F5c.3165C>G (p.Ala1055=)
c.3180C>G (p.Ala1060=)
c.2754C>G (p.Ala918=)
1g.169541925G=CA1206132533F5c.3165C= (p.Ala1055=)
c.3180C= (p.Ala1060=)
c.2754C= (p.Ala918=)
1g.169541925G>TCA421930648F5c.3165C>A (p.Ala1055=)
c.3180C>A (p.Ala1060=)
c.2754C>A (p.Ala918=)
 ClinVar dbSNP gnomAD v4
1g.169541926G>ACA343119139F5c.3164C>T (p.Ala1055Val)
c.3179C>T (p.Ala1060Val)
c.2753C>T (p.Ala918Val)
1g.169541926G>CCA343119140F5c.3164C>G (p.Ala1055Gly)
c.3179C>G (p.Ala1060Gly)
c.2753C>G (p.Ala918Gly)
1g.169541926G>TCA343119141F5c.3164C>A (p.Ala1055Asp)
c.3179C>A (p.Ala1060Asp)
c.2753C>A (p.Ala918Asp)
1g.169541927C>ACA343119142F5c.3163G>T (p.Ala1055Ser)
c.3178G>T (p.Ala1060Ser)
c.2752G>T (p.Ala918Ser)

Number of alleles fetched