Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.34799485G>A | CA2169194308 | GJD2-DT | n.300-11011G>A | dbSNP |
15 | g.34799485G>C | CA2169194307 | GJD2-DT | n.300-11011G>C | dbSNP |
15 | g.34799485G>T | CA14097805 | GJD2-DT | n.300-11011G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |