| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101789951G>A | CA340007 | GNPTAB | c.310C>T (p.Gln104Ter) n.104C>T c.229C>T (p.Gln77Ter) c.94C>T (p.Gln32Ter) c.-1041C>T (n.-1041C>T) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.101789951G= | CA2058966539 | GNPTAB | c.310C= (p.Gln104=) n.104C= c.229C= (p.Gln77=) c.94C= (p.Gln32=) c.-1041C= (n.-1041C=) | dbSNP |
| 12 | g.101789951G>C | CA386305358 | GNPTAB | c.310C>G (p.Gln104Glu) n.104C>G c.229C>G (p.Gln77Glu) c.94C>G (p.Gln32Glu) c.-1041C>G (n.-1041C>G) | dbSNP gnomAD v4 |
| 12 | g.101789951G>T | CA386305359 | GNPTAB | c.310C>A (p.Gln104Lys) n.104C>A c.229C>A (p.Gln77Lys) c.94C>A (p.Gln32Lys) c.-1041C>A (n.-1041C>A) | dbSNP gnomAD v4 |