| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.8325956C>A | CA338162602 | SLC45A1 | c.629C>A (p.Ala210Glu) c.731C>A (p.Ala244Glu) c.638C>A (p.Ala213Glu) c.23C>A (p.Ala8Glu) c.536C>A (p.Ala179Glu) | |
| 1 | g.8325956C= | CA1142370835 | SLC45A1 | c.629C= (p.Ala210=) c.731C= (p.Ala244=) c.638C= (p.Ala213=) c.23C= (p.Ala8=) c.536C= (p.Ala179=) | |
| 1 | g.8325956C>G | CA338162604 | SLC45A1 | c.629C>G (p.Ala210Gly) c.731C>G (p.Ala244Gly) c.638C>G (p.Ala213Gly) c.23C>G (p.Ala8Gly) c.536C>G (p.Ala179Gly) | |
| 1 | g.8325956C>T | CA570148 | SLC45A1 | c.629C>T (p.Ala210Val) c.731C>T (p.Ala244Val) c.638C>T (p.Ala213Val) c.23C>T (p.Ala8Val) c.536C>T (p.Ala179Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8325957G>A | CA570149 | SLC45A1 | c.630G>A (p.Ala210=) c.732G>A (p.Ala244=) c.639G>A (p.Ala213=) c.24G>A (p.Ala8=) c.537G>A (p.Ala179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.8325957G>C | CA415835864 | SLC45A1 | c.630G>C (p.Ala210=) c.732G>C (p.Ala244=) c.639G>C (p.Ala213=) c.24G>C (p.Ala8=) c.537G>C (p.Ala179=) | |
| 1 | g.8325957G= | CA1140725578 | SLC45A1 | c.630G= (p.Ala210=) c.732G= (p.Ala244=) c.639G= (p.Ala213=) c.24G= (p.Ala8=) c.537G= (p.Ala179=) | |
| 1 | g.8325957G>T | CA415835863 | SLC45A1 | c.630G>T (p.Ala210=) c.732G>T (p.Ala244=) c.639G>T (p.Ala213=) c.24G>T (p.Ala8=) c.537G>T (p.Ala179=) | |
| 1 | g.8325958G>A | CA338162610 | SLC45A1 | c.631G>A (p.Asp211Asn) c.733G>A (p.Asp245Asn) c.640G>A (p.Asp214Asn) c.25G>A (p.Asp9Asn) c.538G>A (p.Asp180Asn) | COSMIC COSMIC |
| 1 | g.8325958G>C | CA338162612 | SLC45A1 | c.631G>C (p.Asp211His) c.733G>C (p.Asp245His) c.640G>C (p.Asp214His) c.25G>C (p.Asp9His) c.538G>C (p.Asp180His) | |
| 1 | g.8325958G>T | CA338162608 | SLC45A1 | c.631G>T (p.Asp211Tyr) c.733G>T (p.Asp245Tyr) c.640G>T (p.Asp214Tyr) c.25G>T (p.Asp9Tyr) c.538G>T (p.Asp180Tyr) | |
| 1 | g.8325959A>C | CA338162613 | SLC45A1 | c.632A>C (p.Asp211Ala) c.734A>C (p.Asp245Ala) c.641A>C (p.Asp214Ala) c.26A>C (p.Asp9Ala) c.539A>C (p.Asp180Ala) | |
| 1 | g.8325959A>G | CA338162614 | SLC45A1 | c.632A>G (p.Asp211Gly) c.734A>G (p.Asp245Gly) c.641A>G (p.Asp214Gly) c.26A>G (p.Asp9Gly) c.539A>G (p.Asp180Gly) | |
| 1 | g.8325959A>T | CA338162616 | SLC45A1 | c.632A>T (p.Asp211Val) c.734A>T (p.Asp245Val) c.641A>T (p.Asp214Val) c.26A>T (p.Asp9Val) c.539A>T (p.Asp180Val) | |
| 1 | g.8325960C>A | CA338162620 | SLC45A1 | c.633C>A (p.Asp211Glu) c.735C>A (p.Asp245Glu) c.642C>A (p.Asp214Glu) c.27C>A (p.Asp9Glu) c.540C>A (p.Asp180Glu) | |
| 1 | g.8325960C>G | CA338162621 | SLC45A1 | c.633C>G (p.Asp211Glu) c.735C>G (p.Asp245Glu) c.642C>G (p.Asp214Glu) c.27C>G (p.Asp9Glu) c.540C>G (p.Asp180Glu) | |
| 1 | g.8325960C>T | CA415835866 | SLC45A1 | c.633C>T (p.Asp211=) c.735C>T (p.Asp245=) c.642C>T (p.Asp214=) c.27C>T (p.Asp9=) c.540C>T (p.Asp180=) | |
| 1 | g.8325961A>C | CA338162627 | SLC45A1 | c.634A>C (p.Asn212His) c.736A>C (p.Asn246His) c.643A>C (p.Asn215His) c.28A>C (p.Asn10His) c.541A>C (p.Asn181His) | |
| 1 | g.8325961A>G | CA338162623 | SLC45A1 | c.634A>G (p.Asn212Asp) c.736A>G (p.Asn246Asp) c.643A>G (p.Asn215Asp) c.28A>G (p.Asn10Asp) c.541A>G (p.Asn181Asp) | |
| 1 | g.8325961A>T | CA338162625 | SLC45A1 | c.634A>T (p.Asn212Tyr) c.736A>T (p.Asn246Tyr) c.643A>T (p.Asn215Tyr) c.28A>T (p.Asn10Tyr) c.541A>T (p.Asn181Tyr) | |
| 1 | g.8325962A= | CA1152270645 | SLC45A1 | c.635A= (p.Asn212=) c.737A= (p.Asn246=) c.644A= (p.Asn215=) c.29A= (p.Asn10=) c.542A= (p.Asn181=) | |
| 1 | g.8325962A>C | CA338162630 | SLC45A1 | c.635A>C (p.Asn212Thr) c.737A>C (p.Asn246Thr) c.644A>C (p.Asn215Thr) c.29A>C (p.Asn10Thr) c.542A>C (p.Asn181Thr) | dbSNP gnomAD v2 |
| 1 | g.8325962A>G | CA338162631 | SLC45A1 | c.635A>G (p.Asn212Ser) c.737A>G (p.Asn246Ser) c.644A>G (p.Asn215Ser) c.29A>G (p.Asn10Ser) c.542A>G (p.Asn181Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.8325962A>T | CA338162632 | SLC45A1 | c.635A>T (p.Asn212Ile) c.737A>T (p.Asn246Ile) c.644A>T (p.Asn215Ile) c.29A>T (p.Asn10Ile) c.542A>T (p.Asn181Ile) | |
| 1 | g.8325963C>A | CA338162634 | SLC45A1 | c.636C>A (p.Asn212Lys) c.738C>A (p.Asn246Lys) c.645C>A (p.Asn215Lys) c.30C>A (p.Asn10Lys) c.543C>A (p.Asn181Lys) | |
| 1 | g.8325963C>G | CA338162636 | SLC45A1 | c.636C>G (p.Asn212Lys) c.738C>G (p.Asn246Lys) c.645C>G (p.Asn215Lys) c.30C>G (p.Asn10Lys) c.543C>G (p.Asn181Lys) | gnomAD v4 |
| 1 | g.8325963C>T | CA415835872 | SLC45A1 | c.636C>T (p.Asn212=) c.738C>T (p.Asn246=) c.645C>T (p.Asn215=) c.30C>T (p.Asn10=) c.543C>T (p.Asn181=) | |
| 1 | g.8325966del | CA2643069219 | SLC45A1 | c.639del (p.Ser214AlafsTer5) c.741del (p.Ser248AlafsTer5) c.648del (p.Ser217AlafsTer5) c.33del (p.Ser12AlafsTer5) c.546del (p.Ser183AlafsTer5) | gnomAD v4 |
| 1 | g.8325964C>A | CA338162638 | SLC45A1 | c.637C>A (p.Pro213Thr) c.739C>A (p.Pro247Thr) c.646C>A (p.Pro216Thr) c.31C>A (p.Pro11Thr) c.544C>A (p.Pro182Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.8325964C= | CA1152270648 | SLC45A1 | c.637C= (p.Pro213=) c.739C= (p.Pro247=) c.646C= (p.Pro216=) c.31C= (p.Pro11=) c.544C= (p.Pro182=) | |
| 1 | g.8325964C>G | CA338162642 | SLC45A1 | c.637C>G (p.Pro213Ala) c.739C>G (p.Pro247Ala) c.646C>G (p.Pro216Ala) c.31C>G (p.Pro11Ala) c.544C>G (p.Pro182Ala) | |
| 1 | g.8325964C>T | CA338162640 | SLC45A1 | c.637C>T (p.Pro213Ser) c.739C>T (p.Pro247Ser) c.646C>T (p.Pro216Ser) c.31C>T (p.Pro11Ser) c.544C>T (p.Pro182Ser) | |
| 1 | g.8325965C>A | CA338162644 | SLC45A1 | c.638C>A (p.Pro213His) c.740C>A (p.Pro247His) c.647C>A (p.Pro216His) c.32C>A (p.Pro11His) c.545C>A (p.Pro182His) | |
| 1 | g.8325965C>G | CA338162646 | SLC45A1 | c.638C>G (p.Pro213Arg) c.740C>G (p.Pro247Arg) c.647C>G (p.Pro216Arg) c.32C>G (p.Pro11Arg) c.545C>G (p.Pro182Arg) | |
| 1 | g.8325965C>T | CA338162648 | SLC45A1 | c.638C>T (p.Pro213Leu) c.740C>T (p.Pro247Leu) c.647C>T (p.Pro216Leu) c.32C>T (p.Pro11Leu) c.545C>T (p.Pro182Leu) | |
| 1 | g.8325966C>A | CA415835880 | SLC45A1 | c.639C>A (p.Pro213=) c.741C>A (p.Pro247=) c.648C>A (p.Pro216=) c.33C>A (p.Pro11=) c.546C>A (p.Pro182=) | |
| 1 | g.8325966C>G | CA415835881 | SLC45A1 | c.639C>G (p.Pro213=) c.741C>G (p.Pro247=) c.648C>G (p.Pro216=) c.33C>G (p.Pro11=) c.546C>G (p.Pro182=) | |
| 1 | g.8325966C>T | CA415835882 | SLC45A1 | c.639C>T (p.Pro213=) c.741C>T (p.Pro247=) c.648C>T (p.Pro216=) c.33C>T (p.Pro11=) c.546C>T (p.Pro182=) | |
| 1 | g.8325967A>C | CA338162649 | SLC45A1 | c.640A>C (p.Ser214Arg) c.742A>C (p.Ser248Arg) c.649A>C (p.Ser217Arg) c.34A>C (p.Ser12Arg) c.547A>C (p.Ser183Arg) | |
| 1 | g.8325967A>G | CA338162650 | SLC45A1 | c.640A>G (p.Ser214Gly) c.742A>G (p.Ser248Gly) c.649A>G (p.Ser217Gly) c.34A>G (p.Ser12Gly) c.547A>G (p.Ser183Gly) | |
| 1 | g.8325967A>T | CA338162653 | SLC45A1 | c.640A>T (p.Ser214Cys) c.742A>T (p.Ser248Cys) c.649A>T (p.Ser217Cys) c.34A>T (p.Ser12Cys) c.547A>T (p.Ser183Cys) | |
| 1 | g.8325968G>A | CA338162657 | SLC45A1 | c.641G>A (p.Ser214Asn) c.743G>A (p.Ser248Asn) c.650G>A (p.Ser217Asn) c.35G>A (p.Ser12Asn) c.548G>A (p.Ser183Asn) | |
| 1 | g.8325968G>C | CA338162655 | SLC45A1 | c.641G>C (p.Ser214Thr) c.743G>C (p.Ser248Thr) c.650G>C (p.Ser217Thr) c.35G>C (p.Ser12Thr) c.548G>C (p.Ser183Thr) | |
| 1 | g.8325968G>T | CA338162656 | SLC45A1 | c.641G>T (p.Ser214Ile) c.743G>T (p.Ser248Ile) c.650G>T (p.Ser217Ile) c.35G>T (p.Ser12Ile) c.548G>T (p.Ser183Ile) | |
| 1 | g.8325969C>A | CA338162659 | SLC45A1 | c.642C>A (p.Ser214Arg) c.744C>A (p.Ser248Arg) c.651C>A (p.Ser217Arg) c.36C>A (p.Ser12Arg) c.549C>A (p.Ser183Arg) | |
| 1 | g.8325969C>G | CA338162661 | SLC45A1 | c.642C>G (p.Ser214Arg) c.744C>G (p.Ser248Arg) c.651C>G (p.Ser217Arg) c.36C>G (p.Ser12Arg) c.549C>G (p.Ser183Arg) | |
| 1 | g.8325969C>T | CA415835885 | SLC45A1 | c.642C>T (p.Ser214=) c.744C>T (p.Ser248=) c.651C>T (p.Ser217=) c.36C>T (p.Ser12=) c.549C>T (p.Ser183=) | gnomAD v4 |
| 1 | g.8325970C>A | CA570150 | SLC45A1 | c.643C>A (p.His215Asn) c.745C>A (p.His249Asn) c.652C>A (p.His218Asn) c.37C>A (p.His13Asn) c.550C>A (p.His184Asn) | dbSNP ExAC gnomAD v2 |
| 1 | g.8325970C= | CA1152270650 | SLC45A1 | c.643C= (p.His215=) c.745C= (p.His249=) c.652C= (p.His218=) c.37C= (p.His13=) c.550C= (p.His184=) | |
| 1 | g.8325970C>G | CA338162664 | SLC45A1 | c.643C>G (p.His215Asp) c.745C>G (p.His249Asp) c.652C>G (p.His218Asp) c.37C>G (p.His13Asp) c.550C>G (p.His184Asp) |