| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36227397C>T | CA5056559 | CLTA,GNE | c.1225G>A (p.Asp409Asn) c.955G>A (p.Asp319Asn) c.1132G>A (p.Asp378Asn) c.485+23218C>T (n.485+23218C>T) c.802G>A (p.Asp268Asn) c.1117G>A (p.Asp373Asn) c.1072G>A (p.Asp358Asn) c.979G>A (p.Asp327Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36227397C>A | CA5056560 | CLTA,GNE | c.1225G>T (p.Asp409Tyr) c.955G>T (p.Asp319Tyr) c.1132G>T (p.Asp378Tyr) c.485+23218C>A (n.485+23218C>A) c.802G>T (p.Asp268Tyr) c.1117G>T (p.Asp373Tyr) c.1072G>T (p.Asp358Tyr) c.979G>T (p.Asp327Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36227397C>G | CA373428995 | CLTA,GNE | c.1225G>C (p.Asp409His) c.955G>C (p.Asp319His) c.1132G>C (p.Asp378His) c.485+23218C>G (n.485+23218C>G) c.802G>C (p.Asp268His) c.1117G>C (p.Asp373His) c.1072G>C (p.Asp358His) c.979G>C (p.Asp327His) | ClinVar dbSNP gnomAD v4 |