| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131581278G>A | CA339972 | ARG1,MED23 | c.365G>A (p.Trp122Ter) c.311G>A (p.Trp104Ter) c.*252G>A (n.*252G>A) c.306-1782G>A (n.306-1782G>A) n.349G>A c.4095+6431C>T (n.4095+6431C>T) c.389G>A (p.Trp130Ter) c.4077+6431C>T (n.4077+6431C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131581278G= | CA1664135341 | ARG1,MED23 | c.365G= (p.Trp122=) c.311G= (p.Trp104=) c.*252G= (n.*252G=) c.306-1782G= (n.306-1782G=) n.349G= c.4095+6431C= (n.4095+6431C=) c.389G= (p.Trp130=) c.4077+6431C= (n.4077+6431C=) | dbSNP |