| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.6709693C>T | CA9129324 | C3 | c.1713G>A (p.Thr571=) c.960G>A (p.Thr320=) c.777G>A (n.777G>A) n.1200G>A c.1836G>A (p.Thr612=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.6709693C>A | CA505124741 | C3 | c.1713G>T (p.Thr571=) c.960G>T (p.Thr320=) c.777G>T (n.777G>T) n.1200G>T c.1836G>T (p.Thr612=) | dbSNP |
| 19 | g.6709693C>G | CA505124742 | C3 | c.1713G>C (p.Thr571=) c.960G>C (p.Thr320=) c.777G>C (n.777G>C) n.1200G>C c.1836G>C (p.Thr612=) | dbSNP |
| 19 | g.6709693C= | CA2320565911 | C3 | c.1713G= (p.Thr571=) c.960G= (p.Thr320=) c.777G= (n.777G=) n.1200G= c.1836G= (p.Thr612=) | dbSNP |