Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.54957212G>T | CA666548137 | PCDH15 | c.-79-59712C>A (n.-79-59712C>A) c.-156-8611C>A (n.-156-8611C>A) | dbSNP |
10 | g.54957212G>A | CA207655465 | PCDH15 | c.-79-59712C>T (n.-79-59712C>T) c.-156-8611C>T (n.-156-8611C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |