| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.8389364C>T | CA463860426 | PTPRD | c.4254G>A (p.Gly1418=) c.3042G>A (p.Gly1014=) n.3632G>A c.3036G>A (p.Gly1012=) c.3033G>A (p.Gly1011=) c.3024G>A (p.Gly1008=) c.3006G>A (p.Gly1002=) c.4305G>A (p.Gly1435=) c.4299G>A (p.Gly1433=) c.4257G>A (p.Gly1419=) c.4197G>A (p.Gly1399=) c.3021G>A (p.Gly1007=) c.3003G>A (p.Gly1001=) c.2991G>A (p.Gly997=) c.4311G>A (p.Gly1437=) c.4308G>A (p.Gly1436=) c.4302G>A (p.Gly1434=) c.4293G>A (p.Gly1431=) c.4284G>A (p.Gly1428=) c.4281G>A (p.Gly1427=) c.4272G>A (p.Gly1424=) c.4269G>A (p.Gly1423=) c.4227G>A (p.Gly1409=) c.4188G>A (p.Gly1396=) c.3078G>A (p.Gly1026=) c.3075G>A (p.Gly1025=) c.4314G>A (p.Gly1438=) c.4296G>A (p.Gly1432=) c.4287G>A (p.Gly1429=) c.4275G>A (p.Gly1425=) c.4266G>A (p.Gly1422=) c.3081G>A (p.Gly1027=) c.3069G>A (p.Gly1023=) c.3066G>A (p.Gly1022=) c.3063G>A (p.Gly1021=) c.3048G>A (p.Gly1016=) c.3045G>A (p.Gly1015=) c.3039G>A (p.Gly1013=) c.3027G>A (p.Gly1009=) c.2052G>A (p.Gly684=) c.3015G>A (p.Gly1005=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.8389364C>G | CA4983419 | PTPRD | c.4254G>C (p.Gly1418=) c.3042G>C (p.Gly1014=) n.3632G>C c.3036G>C (p.Gly1012=) c.3033G>C (p.Gly1011=) c.3024G>C (p.Gly1008=) c.3006G>C (p.Gly1002=) c.4305G>C (p.Gly1435=) c.4299G>C (p.Gly1433=) c.4257G>C (p.Gly1419=) c.4197G>C (p.Gly1399=) c.3021G>C (p.Gly1007=) c.3003G>C (p.Gly1001=) c.2991G>C (p.Gly997=) c.4311G>C (p.Gly1437=) c.4308G>C (p.Gly1436=) c.4302G>C (p.Gly1434=) c.4293G>C (p.Gly1431=) c.4284G>C (p.Gly1428=) c.4281G>C (p.Gly1427=) c.4272G>C (p.Gly1424=) c.4269G>C (p.Gly1423=) c.4227G>C (p.Gly1409=) c.4188G>C (p.Gly1396=) c.3078G>C (p.Gly1026=) c.3075G>C (p.Gly1025=) c.4314G>C (p.Gly1438=) c.4296G>C (p.Gly1432=) c.4287G>C (p.Gly1429=) c.4275G>C (p.Gly1425=) c.4266G>C (p.Gly1422=) c.3081G>C (p.Gly1027=) c.3069G>C (p.Gly1023=) c.3066G>C (p.Gly1022=) c.3063G>C (p.Gly1021=) c.3048G>C (p.Gly1016=) c.3045G>C (p.Gly1015=) c.3039G>C (p.Gly1013=) c.3027G>C (p.Gly1009=) c.2052G>C (p.Gly684=) c.3015G>C (p.Gly1005=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |