Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.49470353_49470354insAAGGTGGACCTTAAGCAGCCAGCCCTCA274708ERCC6c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203ArgfsTer33)
n.678_679insGGGCTGGCTGCTTAAGGTCCACCTTA
n.753_754insGGGCTGGCTGCTTAAGGTCCACCTTA
n.656_657insGGGCTGGCTGCTTAAGGTCCACCTTA
n.5010_5011insGGGCTGGCTGCTTAAGGTCCACCTTA
c.3448_3449insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1150ArgfsTer33)
c.*1903_*1904insGGGCTGGCTGCTTAAGGTCCACCTTA (n.*1903_*1904insGGGCTGGCTGCTTAAGGTCCACCTTA)
c.1717_1718insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys573ArgfsTer33)
c.1439_1440insGGGCTGGCTGCTTAAGGTCCACCTTA
n.243-1212_243-1211insAAGGTGGACCTTAAGCAGCCAGCCCT
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.49470353T=CA1908749361ERCC6c.3607A= (p.Lys1203=)
n.678A=
n.753A=
n.656A=
n.5010A=
c.3448A= (p.Lys1150=)
c.*1903A= (n.*1903A=)
c.1717A= (p.Lys573=)
c.1439A=
n.243-1212T=
 dbSNP dbSNP

Number of alleles fetched