Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.136822705A>C | CA119078 | PEX7 | c.40A>C (p.Thr14Pro) | ClinVar dbSNP gnomAD v4 |
6 | g.136822705A= | CA3134712005 | PEX7 | c.40A= (p.Thr14=) | dbSNP |
6 | g.136822705A>G | CA365855155 | PEX7 | c.40A>G (p.Thr14Ala) | dbSNP gnomAD v4 |
6 | g.136822705A>T | CA365855157 | PEX7 | c.40A>T (p.Thr14Ser) | dbSNP gnomAD v4 |