Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.77335605C>A | CA2047797840 | NAV3 | c.-337+10391C>A (n.-337+10391C>A) n.217-5123G>T | dbSNP |
12 | g.77335605C>G | CA2047797841 | NAV3 | c.-337+10391C>G (n.-337+10391C>G) n.217-5123G>C | dbSNP |
12 | g.77335605C>T | CA240020108 | NAV3 | c.-337+10391C>T (n.-337+10391C>T) n.217-5123G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |