| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149027244_149027245del | CA342379 | SH3TC2 | c.2387_2388del c.2491_2492del (p.Leu832HisfsTer8) c.*1775_*1776del (n.*1775_*1776del) c.*2001_*2002del (n.*2001_*2002del) c.*1879_*1880del (n.*1879_*1880del) c.2021_2022del (n.2021_2022del) c.1541_1542del c.*2271_*2272del (n.*2271_*2272del) c.2470_2471del (p.Leu825HisfsTer8) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149027242_149027245del | CA1139659132 | SH3TC2 | c.2385_2388del c.2489_2492del (p.Glu830ValfsTer22) c.*1773_*1776del (n.*1773_*1776del) c.*1999_*2002del (n.*1999_*2002del) c.*1877_*1880del (n.*1877_*1880del) c.2019_2022del (n.2019_2022del) c.1539_1542del c.*2269_*2272del (n.*2269_*2272del) c.2468_2471del (p.Glu823ValfsTer22) | ClinVar dbSNP gnomAD v4 |