| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.674806C>T | CA12018850 | TPPP | c.311+2944G>A (n.311+2944G>A) c.512+2944G>A (n.512+2944G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.674806C>A | CA1522220204 | TPPP | c.311+2944G>T (n.311+2944G>T) c.512+2944G>T (n.512+2944G>T) | dbSNP |
| 5 | g.674806C= | CA1522220202 | TPPP | c.311+2944G= (n.311+2944G=) c.512+2944G= (n.512+2944G=) | dbSNP |