| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109561056_109561058dup | CA278562 | MMAB | c.570_572dup (p.Arg191_Ala192insArg) c.*135_*137dup (n.*135_*137dup) c.414_416dup (p.Arg139_Ala140insArg) c.795_797dup (n.795_797dup) c.*451_*453dup (n.*451_*453dup) n.730_732dup c.415_417dup (p.Pro139_Gly140insPro) c.297_299dup (p.Arg100_Ala101insArg) c.294_296dup (p.Arg99_Ala100insArg) n.681_683dup | ClinVar dbSNP gnomAD v4 |
| 12 | g.109561056_109561058del | CA607285580 | MMAB | c.570_572del (p.Arg191del) c.*135_*137del (n.*135_*137del) c.414_416del (p.Arg139del) c.795_797del (n.795_797del) c.*451_*453del (n.*451_*453del) n.730_732del c.415_417del (p.Pro139del) c.297_299del (p.Arg100del) c.294_296del (p.Arg99del) n.681_683del | dbSNP gnomAD v2 gnomAD v4 |