| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24238273G>A | CA7130276 | GMPR2,TINF2 | c.725G>A (p.Gly242Asp) c.728G>A (p.Gly243Asp) c.779G>A (p.Gly260Asp) c.641G>A (p.Gly214Asp) n.86G>A c.305G>A (p.Gly102Asp) c.28G>A c.263G>A (p.Gly88Asp) c.680G>A (p.Gly227Asp) c.*521G>A (n.*521G>A) c.626G>A (p.Gly209Asp) c.123-316G>A c.*647G>A (n.*647G>A) c.617G>A (p.Gly206Asp) n.1210G>A c.1221+1791C>T (n.1221+1791C>T) c.236G>A (p.Gly79Asp) n.1010G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24238273G>T | CA7130277 | GMPR2,TINF2 | c.725G>T (p.Gly242Val) c.728G>T (p.Gly243Val) c.779G>T (p.Gly260Val) c.641G>T (p.Gly214Val) n.86G>T c.305G>T (p.Gly102Val) c.28G>T c.263G>T (p.Gly88Val) c.680G>T (p.Gly227Val) c.*521G>T (n.*521G>T) c.626G>T (p.Gly209Val) c.123-316G>T c.*647G>T (n.*647G>T) c.617G>T (p.Gly206Val) n.1210G>T c.1221+1791C>A (n.1221+1791C>A) c.236G>T (p.Gly79Val) n.1010G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24238273G= | CA2123845325 | GMPR2,TINF2 | c.725G= (p.Gly242=) c.728G= (p.Gly243=) c.779G= (p.Gly260=) c.641G= (p.Gly214=) n.86G= c.305G= (p.Gly102=) c.28G= c.263G= (p.Gly88=) c.680G= (p.Gly227=) c.*521G= (n.*521G=) c.626G= (p.Gly209=) c.123-316G= c.*647G= (n.*647G=) c.617G= (p.Gly206=) n.1210G= c.1221+1791C= (n.1221+1791C=) c.236G= (p.Gly79=) n.1010G= | dbSNP |