Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.112094876del | CA279936 | SDHD | c.*125del (n.*125del) c.314+5865del (n.314+5865del) c.386del (p.Leu129TrpfsTer6) c.269del (p.Leu90TrpfsTer6) n.319+5865del c.*84del (n.*84del) c.241del (p.Trp81GlyfsTer?) c.379del (p.Trp127GlyfsTer?) c.430del c.145+5865del n.524del n.475del | ClinVar dbSNP |
11 | g.112094873_112094876dup | CA1139662340 | SDHD | c.*122_*125dup (n.*122_*125dup) c.314+5862_314+5865dup (n.314+5862_314+5865dup) c.383_386dup (p.Leu129PhefsTer?) c.266_269dup (p.Leu90PhefsTer?) n.319+5862_319+5865dup c.*81_*84dup (n.*81_*84dup) c.238_241dup (p.Trp81PhefsTer?) c.376_379dup (p.Trp127PhefsTer?) c.427_430dup c.145+5862_145+5865dup n.521_524dup n.472_475dup | ClinVar dbSNP |