| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143575429_143575430del | CA2688943834 | NAPRT | c.1286_1287del (p.Ser429Ter) c.264_265del n.830_831del c.1205_1206del (p.Ser402Ter) c.602_603del (p.Ser201Ter) c.1505_1506del (p.Ser502Ter) c.923_924del (p.Ser308Ter) c.521_522del (p.Ser174Ter) | gnomAD v4 |
| 8 | g.143575430G>A | CA4912706 | NAPRT | c.1284C>T (p.Gly428=) c.262C>T n.828C>T c.1203C>T (p.Gly401=) c.600C>T (p.Gly200=) c.1503C>T (p.Gly501=) c.921C>T (p.Gly307=) c.519C>T (p.Gly173=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143575430G>C | CA463512231 | NAPRT | c.1284C>G (p.Gly428=) c.262C>G n.828C>G c.1203C>G (p.Gly401=) c.600C>G (p.Gly200=) c.1503C>G (p.Gly501=) c.921C>G (p.Gly307=) c.519C>G (p.Gly173=) | |
| 8 | g.143575430G= | CA1825861451 | NAPRT | c.1284C= (p.Gly428=) c.262C= n.828C= c.1203C= (p.Gly401=) c.600C= (p.Gly200=) c.1503C= (p.Gly501=) c.921C= (p.Gly307=) c.519C= (p.Gly173=) | |
| 8 | g.143575430G>T | CA463512229 | NAPRT | c.1284C>A (p.Gly428=) c.262C>A n.828C>A c.1203C>A (p.Gly401=) c.600C>A (p.Gly200=) c.1503C>A (p.Gly501=) c.921C>A (p.Gly307=) c.519C>A (p.Gly173=) | |
| 8 | g.143575431C>A | CA372450716 | NAPRT | c.1283G>T (p.Gly428Val) c.261G>T n.827G>T c.1202G>T (p.Gly401Val) c.599G>T (p.Gly200Val) c.1502G>T (p.Gly501Val) c.920G>T (p.Gly307Val) c.518G>T (p.Gly173Val) | |
| 8 | g.143575431C>G | CA372450720 | NAPRT | c.1283G>C (p.Gly428Ala) c.261G>C n.827G>C c.1202G>C (p.Gly401Ala) c.599G>C (p.Gly200Ala) c.1502G>C (p.Gly501Ala) c.920G>C (p.Gly307Ala) c.518G>C (p.Gly173Ala) | |
| 8 | g.143575431C>T | CA372450728 | NAPRT | c.1283G>A (p.Gly428Asp) c.261G>A n.827G>A c.1202G>A (p.Gly401Asp) c.599G>A (p.Gly200Asp) c.1502G>A (p.Gly501Asp) c.920G>A (p.Gly307Asp) c.518G>A (p.Gly173Asp) | |
| 8 | g.143575432C>A | CA372450729 | NAPRT | c.1282G>T (p.Gly428Cys) c.260G>T n.826G>T c.1066G>T c.1201G>T (p.Gly401Cys) c.598G>T (p.Gly200Cys) c.1501G>T (p.Gly501Cys) c.919G>T (p.Gly307Cys) c.517G>T (p.Gly173Cys) | gnomAD v4 |
| 8 | g.143575432C= | CA1825861452 | NAPRT | c.1282G= (p.Gly428=) c.260G= n.826G= c.1066G= c.1201G= (p.Gly401=) c.598G= (p.Gly200=) c.1501G= (p.Gly501=) c.919G= (p.Gly307=) c.517G= (p.Gly173=) | |
| 8 | g.143575432C>G | CA372450730 | NAPRT | c.1282G>C (p.Gly428Arg) c.260G>C n.826G>C c.1066G>C c.1201G>C (p.Gly401Arg) c.598G>C (p.Gly200Arg) c.1501G>C (p.Gly501Arg) c.919G>C (p.Gly307Arg) c.517G>C (p.Gly173Arg) | |
| 8 | g.143575432C>T | CA372450731 | NAPRT | c.1282G>A (p.Gly428Ser) c.260G>A n.826G>A c.1066G>A c.1201G>A (p.Gly401Ser) c.598G>A (p.Gly200Ser) c.1501G>A (p.Gly501Ser) c.919G>A (p.Gly307Ser) c.517G>A (p.Gly173Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143575433C>A | CA463512238 | NAPRT | c.1281G>T (p.Leu427=) c.259G>T n.825G>T c.1065G>T c.1200G>T (p.Leu400=) c.597G>T (p.Leu199=) c.1500G>T (p.Leu500=) c.918G>T (p.Leu306=) c.516G>T (p.Leu172=) | |
| 8 | g.143575433C>G | CA463512254 | NAPRT | c.1281G>C (p.Leu427=) c.259G>C n.825G>C c.1065G>C c.1200G>C (p.Leu400=) c.597G>C (p.Leu199=) c.1500G>C (p.Leu500=) c.918G>C (p.Leu306=) c.516G>C (p.Leu172=) | |
| 8 | g.143575433C>T | CA463512255 | NAPRT | c.1281G>A (p.Leu427=) c.259G>A n.825G>A c.1065G>A c.1200G>A (p.Leu400=) c.597G>A (p.Leu199=) c.1500G>A (p.Leu500=) c.918G>A (p.Leu306=) c.516G>A (p.Leu172=) | gnomAD v4 |
| 8 | g.143575434A= | CA1825861453 | NAPRT | c.1280T= (p.Leu427=) c.258T= n.824T= c.1064T= c.1199T= (p.Leu400=) c.596T= (p.Leu199=) c.1499T= (p.Leu500=) c.917T= (p.Leu306=) c.515T= (p.Leu172=) | |
| 8 | g.143575434A>C | CA372450735 | NAPRT | c.1280T>G (p.Leu427Arg) c.258T>G n.824T>G c.1064T>G c.1199T>G (p.Leu400Arg) c.596T>G (p.Leu199Arg) c.1499T>G (p.Leu500Arg) c.917T>G (p.Leu306Arg) c.515T>G (p.Leu172Arg) | |
| 8 | g.143575434A>G | CA4912707 | NAPRT | c.1280T>C (p.Leu427Pro) c.258T>C n.824T>C c.1064T>C c.1199T>C (p.Leu400Pro) c.596T>C (p.Leu199Pro) c.1499T>C (p.Leu500Pro) c.917T>C (p.Leu306Pro) c.515T>C (p.Leu172Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143575434A>T | CA372450742 | NAPRT | c.1280T>A (p.Leu427Gln) c.258T>A n.824T>A c.1064T>A c.1199T>A (p.Leu400Gln) c.596T>A (p.Leu199Gln) c.1499T>A (p.Leu500Gln) c.917T>A (p.Leu306Gln) c.515T>A (p.Leu172Gln) | |
| 8 | g.143575435G>A | CA463512256 | NAPRT | c.1279C>T (p.Leu427=) c.257C>T n.823C>T c.1063C>T c.1198C>T (p.Leu400=) c.595C>T (p.Leu199=) c.1498C>T (p.Leu500=) c.916C>T (p.Leu306=) c.514C>T (p.Leu172=) | gnomAD v4 |
| 8 | g.143575435G>C | CA372450753 | NAPRT | c.1279C>G (p.Leu427Val) c.257C>G n.823C>G c.1063C>G c.1198C>G (p.Leu400Val) c.595C>G (p.Leu199Val) c.1498C>G (p.Leu500Val) c.916C>G (p.Leu306Val) c.514C>G (p.Leu172Val) | |
| 8 | g.143575435G>T | CA372450768 | NAPRT | c.1279C>A (p.Leu427Met) c.257C>A n.823C>A c.1063C>A c.1198C>A (p.Leu400Met) c.595C>A (p.Leu199Met) c.1498C>A (p.Leu500Met) c.916C>A (p.Leu306Met) c.514C>A (p.Leu172Met) | gnomAD v4 |
| 8 | g.143575436del | CA2688943846 | NAPRT | c.1279del (p.Leu427TrpfsTer14) c.257del n.823del c.1063del c.1279del (p.Leu427TrpfsTer25) c.1198del (p.Leu400TrpfsTer14) c.595del (p.Leu199TrpfsTer14) c.1498del (p.Leu500TrpfsTer14) c.1498del (p.Leu500TrpfsTer25) c.916del (p.Leu306TrpfsTer25) c.514del (p.Leu172TrpfsTer14) | gnomAD v4 |
| 8 | g.143575436G>A | CA187547773 | NAPRT | c.1278C>T (p.Leu426=) c.256C>T n.822C>T c.1062C>T c.1197C>T (p.Leu399=) c.594C>T (p.Leu198=) c.1497C>T (p.Leu499=) c.915C>T (p.Leu305=) c.513C>T (p.Leu171=) | dbSNP |
| 8 | g.143575436G>C | CA463512257 | NAPRT | c.1278C>G (p.Leu426=) c.256C>G n.822C>G c.1062C>G c.1197C>G (p.Leu399=) c.594C>G (p.Leu198=) c.1497C>G (p.Leu499=) c.915C>G (p.Leu305=) c.513C>G (p.Leu171=) | |
| 8 | g.143575436G= | CA1825861454 | NAPRT | c.1278C= (p.Leu426=) c.256C= n.822C= c.1062C= c.1197C= (p.Leu399=) c.594C= (p.Leu198=) c.1497C= (p.Leu499=) c.915C= (p.Leu305=) c.513C= (p.Leu171=) | |
| 8 | g.143575436G>T | CA463512258 | NAPRT | c.1278C>A (p.Leu426=) c.256C>A n.822C>A c.1062C>A c.1197C>A (p.Leu399=) c.594C>A (p.Leu198=) c.1497C>A (p.Leu499=) c.915C>A (p.Leu305=) c.513C>A (p.Leu171=) | |
| 8 | g.143575437A>C | CA372450774 | NAPRT | c.1277T>G (p.Leu426Arg) c.255T>G n.821T>G c.1061T>G c.1196T>G (p.Leu399Arg) c.593T>G (p.Leu198Arg) c.1496T>G (p.Leu499Arg) c.914T>G (p.Leu305Arg) c.512T>G (p.Leu171Arg) | |
| 8 | g.143575437A>G | CA372450773 | NAPRT | c.1277T>C (p.Leu426Pro) c.255T>C n.821T>C c.1061T>C c.1196T>C (p.Leu399Pro) c.593T>C (p.Leu198Pro) c.1496T>C (p.Leu499Pro) c.914T>C (p.Leu305Pro) c.512T>C (p.Leu171Pro) | |
| 8 | g.143575437A>T | CA372450772 | NAPRT | c.1277T>A (p.Leu426His) c.255T>A n.821T>A c.1061T>A c.1196T>A (p.Leu399His) c.593T>A (p.Leu198His) c.1496T>A (p.Leu499His) c.914T>A (p.Leu305His) c.512T>A (p.Leu171His) | |
| 8 | g.143575438G>A | CA372450777 | NAPRT | c.1276C>T (p.Leu426Phe) c.254C>T n.820C>T c.1060C>T c.1195C>T (p.Leu399Phe) c.592C>T (p.Leu198Phe) c.1495C>T (p.Leu499Phe) c.913C>T (p.Leu305Phe) c.511C>T (p.Leu171Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143575438G>C | CA372450783 | NAPRT | c.1276C>G (p.Leu426Val) c.254C>G n.820C>G c.1060C>G c.1195C>G (p.Leu399Val) c.592C>G (p.Leu198Val) c.1495C>G (p.Leu499Val) c.913C>G (p.Leu305Val) c.511C>G (p.Leu171Val) | gnomAD v4 |
| 8 | g.143575438G= | CA1825861455 | NAPRT | c.1276C= (p.Leu426=) c.254C= n.820C= c.1060C= c.1195C= (p.Leu399=) c.592C= (p.Leu198=) c.1495C= (p.Leu499=) c.913C= (p.Leu305=) c.511C= (p.Leu171=) | |
| 8 | g.143575438G>T | CA372450789 | NAPRT | c.1276C>A (p.Leu426Ile) c.254C>A n.820C>A c.1060C>A c.1195C>A (p.Leu399Ile) c.592C>A (p.Leu198Ile) c.1495C>A (p.Leu499Ile) c.913C>A (p.Leu305Ile) c.511C>A (p.Leu171Ile) | |
| 8 | g.143575439C>A | CA463512259 | NAPRT | c.1275G>T (p.Arg425=) c.253G>T n.819G>T c.1059G>T c.1194G>T (p.Arg398=) c.591G>T (p.Arg197=) c.1494G>T (p.Arg498=) c.912G>T (p.Arg304=) c.510G>T (p.Arg170=) | |
| 8 | g.143575439C>G | CA463512260 | NAPRT | c.1275G>C (p.Arg425=) c.253G>C n.819G>C c.1059G>C c.1194G>C (p.Arg398=) c.591G>C (p.Arg197=) c.1494G>C (p.Arg498=) c.912G>C (p.Arg304=) c.510G>C (p.Arg170=) | gnomAD v4 |
| 8 | g.143575439C>T | CA463512261 | NAPRT | c.1275G>A (p.Arg425=) c.253G>A n.819G>A c.1059G>A c.1194G>A (p.Arg398=) c.591G>A (p.Arg197=) c.1494G>A (p.Arg498=) c.912G>A (p.Arg304=) c.510G>A (p.Arg170=) | |
| 8 | g.143575440C>A | CA372450793 | NAPRT | c.1274G>T (p.Arg425Leu) c.252G>T n.818G>T c.1058G>T c.1193G>T (p.Arg398Leu) c.590G>T (p.Arg197Leu) c.1493G>T (p.Arg498Leu) c.911G>T (p.Arg304Leu) c.509G>T (p.Arg170Leu) | |
| 8 | g.143575440C= | CA1825861456 | NAPRT | c.1274G= (p.Arg425=) c.252G= n.818G= c.1058G= c.1193G= (p.Arg398=) c.590G= (p.Arg197=) c.1493G= (p.Arg498=) c.911G= (p.Arg304=) c.509G= (p.Arg170=) | |
| 8 | g.143575440C>G | CA4912709 | NAPRT | c.1274G>C (p.Arg425Pro) c.252G>C n.818G>C c.1058G>C c.1193G>C (p.Arg398Pro) c.590G>C (p.Arg197Pro) c.1493G>C (p.Arg498Pro) c.911G>C (p.Arg304Pro) c.509G>C (p.Arg170Pro) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.143575440C>T | CA4912708 | NAPRT | c.1274G>A (p.Arg425Gln) c.252G>A n.818G>A c.1058G>A c.1193G>A (p.Arg398Gln) c.590G>A (p.Arg197Gln) c.1493G>A (p.Arg498Gln) c.911G>A (p.Arg304Gln) c.509G>A (p.Arg170Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143575441G>A | CA4912710 | NAPRT | c.1273C>T (p.Arg425Trp) c.251C>T n.817C>T c.1057C>T c.1192C>T (p.Arg398Trp) c.589C>T (p.Arg197Trp) c.1492C>T (p.Arg498Trp) c.910C>T (p.Arg304Trp) c.508C>T (p.Arg170Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143575441G>C | CA372450805 | NAPRT | c.1273C>G (p.Arg425Gly) c.251C>G n.817C>G c.1057C>G c.1192C>G (p.Arg398Gly) c.589C>G (p.Arg197Gly) c.1492C>G (p.Arg498Gly) c.910C>G (p.Arg304Gly) c.508C>G (p.Arg170Gly) | |
| 8 | g.143575441G= | CA1825861457 | NAPRT | c.1273C= (p.Arg425=) c.251C= n.817C= c.1057C= c.1192C= (p.Arg398=) c.589C= (p.Arg197=) c.1492C= (p.Arg498=) c.910C= (p.Arg304=) c.508C= (p.Arg170=) | |
| 8 | g.143575441G>T | CA463512262 | NAPRT | c.1273C>A (p.Arg425=) c.251C>A n.817C>A c.1057C>A c.1192C>A (p.Arg398=) c.589C>A (p.Arg197=) c.1492C>A (p.Arg498=) c.910C>A (p.Arg304=) c.508C>A (p.Arg170=) | gnomAD v4 |
| 8 | g.143575442G>A | CA463512263 | NAPRT | c.1272C>T (p.Phe424=) c.250C>T n.816C>T c.1056C>T c.1191C>T (p.Phe397=) c.588C>T (p.Phe196=) c.1491C>T (p.Phe497=) c.909C>T (p.Phe303=) c.507C>T (p.Phe169=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143575442G>C | CA372450810 | NAPRT | c.1272C>G (p.Phe424Leu) c.250C>G n.816C>G c.1056C>G c.1191C>G (p.Phe397Leu) c.588C>G (p.Phe196Leu) c.1491C>G (p.Phe497Leu) c.909C>G (p.Phe303Leu) c.507C>G (p.Phe169Leu) | |
| 8 | g.143575442G= | CA1825861458 | NAPRT | c.1272C= (p.Phe424=) c.250C= n.816C= c.1056C= c.1191C= (p.Phe397=) c.588C= (p.Phe196=) c.1491C= (p.Phe497=) c.909C= (p.Phe303=) c.507C= (p.Phe169=) | |
| 8 | g.143575442G>T | CA372450812 | NAPRT | c.1272C>A (p.Phe424Leu) c.250C>A n.816C>A c.1056C>A c.1191C>A (p.Phe397Leu) c.588C>A (p.Phe196Leu) c.1491C>A (p.Phe497Leu) c.909C>A (p.Phe303Leu) c.507C>A (p.Phe169Leu) | |
| 8 | g.143575443A>C | CA372450819 | NAPRT | c.1271T>G (p.Phe424Cys) c.249T>G n.815T>G c.1055T>G c.1190T>G (p.Phe397Cys) c.587T>G (p.Phe196Cys) c.1490T>G (p.Phe497Cys) c.908T>G (p.Phe303Cys) c.506T>G (p.Phe169Cys) |