| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.142954267G>A | CA4534465 | KEL | c.841C>T (p.Arg281Trp) n.959C>T c.877C>T (p.Arg293Trp) c.-107C>T (n.-107C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.142954267G>C | CA369628081 | KEL | c.841C>G (p.Arg281Gly) n.959C>G c.877C>G (p.Arg293Gly) c.-107C>G (n.-107C>G) | dbSNP |
| 7 | g.142954267G= | CA1748722909 | KEL | c.841C= (p.Arg281=) n.959C= c.877C= (p.Arg293=) c.-107C= (n.-107C=) | dbSNP |