| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.2595307A>G | CA542373 | MMEL1 | c.1553T>C (p.Met518Thr) c.1082T>C (p.Met361Thr) c.1616T>C (p.Met539Thr) c.1562T>C (p.Met521Thr) c.1538T>C (p.Met513Thr) c.1304T>C (p.Met435Thr) c.845T>C (p.Met282Thr) c.782T>C (p.Met261Thr) n.1830T>C n.1767T>C c.1499T>C (p.Met500Thr) c.1475T>C (p.Met492Thr) c.1424T>C (p.Met475Thr) c.1241T>C (p.Met414Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2595307A>C | CA337983950 | MMEL1 | c.1553T>G (p.Met518Arg) c.1082T>G (p.Met361Arg) c.1616T>G (p.Met539Arg) c.1562T>G (p.Met521Arg) c.1538T>G (p.Met513Arg) c.1304T>G (p.Met435Arg) c.845T>G (p.Met282Arg) c.782T>G (p.Met261Arg) n.1830T>G n.1767T>G c.1499T>G (p.Met500Arg) c.1475T>G (p.Met492Arg) c.1424T>G (p.Met475Arg) c.1241T>G (p.Met414Arg) | dbSNP |
| 1 | g.2595307A>T | CA337983952 | MMEL1 | c.1553T>A (p.Met518Lys) c.1082T>A (p.Met361Lys) c.1616T>A (p.Met539Lys) c.1562T>A (p.Met521Lys) c.1538T>A (p.Met513Lys) c.1304T>A (p.Met435Lys) c.845T>A (p.Met282Lys) c.782T>A (p.Met261Lys) n.1830T>A n.1767T>A c.1499T>A (p.Met500Lys) c.1475T>A (p.Met492Lys) c.1424T>A (p.Met475Lys) c.1241T>A (p.Met414Lys) | dbSNP gnomAD v4 |