| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.169800667T>C | CA2697634 | LRRC34 | c.745A>G (p.Ser249Gly) n.722A>G c.657+3386A>G (n.657+3386A>G) n.727A>G c.562A>G (p.Ser188Gly) n.593A>G n.545A>G c.691A>G (p.Ser231Gly) c.742A>G (p.Ser248Gly) c.559A>G (p.Ser187Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.169800667T>G | CA2697635 | LRRC34 | c.745A>C (p.Ser249Arg) n.722A>C c.657+3386A>C (n.657+3386A>C) n.727A>C c.562A>C (p.Ser188Arg) n.593A>C n.545A>C c.691A>C (p.Ser231Arg) c.742A>C (p.Ser248Arg) c.559A>C (p.Ser187Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.169800667T>A | CA355077185 | LRRC34 | c.745A>T (p.Ser249Cys) n.722A>T c.657+3386A>T (n.657+3386A>T) n.727A>T c.562A>T (p.Ser188Cys) n.593A>T n.545A>T c.691A>T (p.Ser231Cys) c.742A>T (p.Ser248Cys) c.559A>T (p.Ser187Cys) | dbSNP gnomAD v4 |