| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.79042898T>C | CA16042559 | PHIP | c.563A>G (p.His188Arg) c.485A>G (p.His162Arg) c.545A>G (p.His182Arg) c.*356A>G (n.*356A>G) n.473A>G c.29A>G (p.His10Arg) n.771A>G c.-1185A>G (n.-1185A>G) | ClinVar dbSNP |
| 6 | g.79042898T= | CA1640421487 | PHIP | c.563A= (p.His188=) c.485A= (p.His162=) c.545A= (p.His182=) c.*356A= (n.*356A=) n.473A= c.29A= (p.His10=) n.771A= c.-1185A= (n.-1185A=) | dbSNP |
| 6 | g.79042898T>G | CA364643074 | PHIP | c.563A>C (p.His188Pro) c.485A>C (p.His162Pro) c.545A>C (p.His182Pro) c.*356A>C (n.*356A>C) n.473A>C c.29A>C (p.His10Pro) n.771A>C c.-1185A>C (n.-1185A>C) | ClinVar dbSNP |