| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71612672C>G | CA1706944 | DYSF | c.1667C>G (p.Pro556Arg) c.884C>G (p.Pro295Arg) c.842C>G (p.Pro281Arg) c.4199C>G (p.Pro1400Arg) c.4253C>G (p.Pro1418Arg) c.4202C>G (p.Pro1401Arg) c.4250C>G (p.Pro1417Arg) c.4295C>G (p.Pro1432Arg) c.4160C>G (p.Pro1387Arg) c.4292C>G (p.Pro1431Arg) n.435C>G n.583C>G n.1084C>G n.418C>G n.497C>G c.4157C>G (p.Pro1386Arg) n.4453C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71612672C>A | CA49779936 | DYSF | c.1667C>A (p.Pro556His) c.884C>A (p.Pro295His) c.842C>A (p.Pro281His) c.4199C>A (p.Pro1400His) c.4253C>A (p.Pro1418His) c.4202C>A (p.Pro1401His) c.4250C>A (p.Pro1417His) c.4295C>A (p.Pro1432His) c.4160C>A (p.Pro1387His) c.4292C>A (p.Pro1431His) n.435C>A n.583C>A n.1084C>A n.418C>A n.497C>A c.4157C>A (p.Pro1386His) n.4453C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71612672C>T | CA347229240 | DYSF | c.1667C>T (p.Pro556Leu) c.884C>T (p.Pro295Leu) c.842C>T (p.Pro281Leu) c.4199C>T (p.Pro1400Leu) c.4253C>T (p.Pro1418Leu) c.4202C>T (p.Pro1401Leu) c.4250C>T (p.Pro1417Leu) c.4295C>T (p.Pro1432Leu) c.4160C>T (p.Pro1387Leu) c.4292C>T (p.Pro1431Leu) n.435C>T n.583C>T n.1084C>T n.418C>T n.497C>T c.4157C>T (p.Pro1386Leu) n.4453C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |