| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131583808C>G | CA339970 | ARG1,MED23 | c.869C>G (p.Thr290Ser) c.611C>G (p.Thr204Ser) c.815C>G (p.Thr272Ser) c.*756C>G (n.*756C>G) c.614C>G (p.Thr205Ser) c.4095+3901G>C (n.4095+3901G>C) c.893C>G (p.Thr298Ser) c.4077+3901G>C (n.4077+3901G>C) n.853C>G | ClinVar dbSNP |
| 6 | g.131583808C= | CA1664137837 | ARG1,MED23 | c.869C= (p.Thr290=) c.611C= (p.Thr204=) c.815C= (p.Thr272=) c.*756C= (n.*756C=) c.614C= (p.Thr205=) c.4095+3901G= (n.4095+3901G=) c.893C= (p.Thr298=) c.4077+3901G= (n.4077+3901G=) n.853C= | dbSNP |
| 6 | g.131583808C>A | CA365653616 | ARG1,MED23 | c.869C>A (p.Thr290Asn) c.611C>A (p.Thr204Asn) c.815C>A (p.Thr272Asn) c.*756C>A (n.*756C>A) c.614C>A (p.Thr205Asn) c.4095+3901G>T (n.4095+3901G>T) c.893C>A (p.Thr298Asn) c.4077+3901G>T (n.4077+3901G>T) n.853C>A | dbSNP gnomAD v4 |
| 6 | g.131583808C>T | CA365653617 | ARG1,MED23 | c.869C>T (p.Thr290Ile) c.611C>T (p.Thr204Ile) c.815C>T (p.Thr272Ile) c.*756C>T (n.*756C>T) c.614C>T (p.Thr205Ile) c.4095+3901G>A (n.4095+3901G>A) c.893C>T (p.Thr298Ile) c.4077+3901G>A (n.4077+3901G>A) n.853C>T | dbSNP gnomAD v4 |