| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.22178281_22178299del | CA645509038 | PHEX | c.45_63del (p.Phe15LeufsTer11) n.275_293del n.1165_1183del c.1491_1509del (p.Phe497LeufsTer11) c.735_753del (p.Phe245LeufsTer11) c.384_402del (p.Phe128LeufsTer11) c.1200_1218del (p.Phe400LeufsTer11) n.2331_2349del | |
| X | g.22178282T>A | CA412574774 | PHEX | c.46T>A (p.Ser16Thr) n.276T>A n.1166T>A c.1492T>A (p.Ser498Thr) c.736T>A (p.Ser246Thr) c.385T>A (p.Ser129Thr) c.1201T>A (p.Ser401Thr) n.2332T>A | |
| X | g.22178282T>C | CA412574776 | PHEX | c.46T>C (p.Ser16Pro) n.276T>C n.1166T>C c.1492T>C (p.Ser498Pro) c.736T>C (p.Ser246Pro) c.385T>C (p.Ser129Pro) c.1201T>C (p.Ser401Pro) n.2332T>C | |
| X | g.22178282T>G | CA412574779 | PHEX | c.46T>G (p.Ser16Ala) n.276T>G n.1166T>G c.1492T>G (p.Ser498Ala) c.736T>G (p.Ser246Ala) c.385T>G (p.Ser129Ala) c.1201T>G (p.Ser401Ala) n.2332T>G | |
| X | g.22178283C>A | CA412574785 | PHEX | c.47C>A (p.Ser16Ter) n.277C>A n.1167C>A c.1493C>A (p.Ser498Ter) c.737C>A (p.Ser246Ter) c.386C>A (p.Ser129Ter) c.1202C>A (p.Ser401Ter) n.2333C>A | gnomAD v4 |
| X | g.22178283C>G | CA412574788 | PHEX | c.47C>G (p.Ser16Ter) n.277C>G n.1167C>G c.1493C>G (p.Ser498Ter) c.737C>G (p.Ser246Ter) c.386C>G (p.Ser129Ter) c.1202C>G (p.Ser401Ter) n.2333C>G | |
| X | g.22178283C>T | CA412574791 | PHEX | c.47C>T (p.Ser16Leu) n.277C>T n.1167C>T c.1493C>T (p.Ser498Leu) c.737C>T (p.Ser246Leu) c.386C>T (p.Ser129Leu) c.1202C>T (p.Ser401Leu) n.2333C>T | |
| X | g.22178284A>C | CA515431791 | PHEX | c.48A>C (p.Ser16=) n.278A>C n.1168A>C c.1494A>C (p.Ser498=) c.738A>C (p.Ser246=) c.387A>C (p.Ser129=) c.1203A>C (p.Ser401=) n.2334A>C | |
| X | g.22178284A>G | CA515431792 | PHEX | c.48A>G (p.Ser16=) n.278A>G n.1168A>G c.1494A>G (p.Ser498=) c.738A>G (p.Ser246=) c.387A>G (p.Ser129=) c.1203A>G (p.Ser401=) n.2334A>G | |
| X | g.22178284A>T | CA515431793 | PHEX | c.48A>T (p.Ser16=) n.278A>T n.1168A>T c.1494A>T (p.Ser498=) c.738A>T (p.Ser246=) c.387A>T (p.Ser129=) c.1203A>T (p.Ser401=) n.2334A>T | |
| X | g.22178285G>A | CA412574794 | PHEX | c.49G>A (p.Glu17Lys) n.279G>A n.1169G>A c.1495G>A (p.Glu499Lys) c.739G>A (p.Glu247Lys) c.388G>A (p.Glu130Lys) c.1204G>A (p.Glu402Lys) n.2335G>A | |
| X | g.22178285G>C | CA412574797 | PHEX | c.49G>C (p.Glu17Gln) n.279G>C n.1169G>C c.1495G>C (p.Glu499Gln) c.739G>C (p.Glu247Gln) c.388G>C (p.Glu130Gln) c.1204G>C (p.Glu402Gln) n.2335G>C | |
| X | g.22178285G= | CA2419195567 | PHEX | c.49G= (p.Glu17=) n.279G= n.1169G= c.1495G= (p.Glu499=) c.739G= (p.Glu247=) c.388G= (p.Glu130=) c.1204G= (p.Glu402=) n.2335G= | |
| X | g.22178285G>T | CA412574799 | PHEX | c.49G>T (p.Glu17Ter) n.279G>T n.1169G>T c.1495G>T (p.Glu499Ter) c.739G>T (p.Glu247Ter) c.388G>T (p.Glu130Ter) c.1204G>T (p.Glu402Ter) n.2335G>T | ClinVar gnomAD v4 |
| X | g.22178286A>C | CA412574802 | PHEX | c.50A>C (p.Glu17Ala) n.280A>C n.1170A>C c.1496A>C (p.Glu499Ala) c.740A>C (p.Glu247Ala) c.389A>C (p.Glu130Ala) c.1205A>C (p.Glu402Ala) n.2336A>C | |
| X | g.22178286A>G | CA412574805 | PHEX | c.50A>G (p.Glu17Gly) n.280A>G n.1170A>G c.1496A>G (p.Glu499Gly) c.740A>G (p.Glu247Gly) c.389A>G (p.Glu130Gly) c.1205A>G (p.Glu402Gly) n.2336A>G | |
| X | g.22178286A>T | CA412574807 | PHEX | c.50A>T (p.Glu17Val) n.280A>T n.1170A>T c.1496A>T (p.Glu499Val) c.740A>T (p.Glu247Val) c.389A>T (p.Glu130Val) c.1205A>T (p.Glu402Val) n.2336A>T | |
| X | g.22178286_22178287insTCA | CA915950811 | PHEX | c.50_51insTCA (p.Glu17delinsAspGln) n.280_281insTCA n.1170_1171insTCA c.1496_1497insTCA (p.Glu499delinsAspGln) c.740_741insTCA (p.Glu247delinsAspGln) c.389_390insTCA (p.Glu130delinsAspGln) c.1205_1206insTCA (p.Glu402delinsAspGln) n.2336_2337insTCA | ClinVar dbSNP |
| X | g.22178287A>C | CA412574811 | PHEX | c.51A>C (p.Glu17Asp) n.281A>C n.1171A>C c.1497A>C (p.Glu499Asp) c.741A>C (p.Glu247Asp) c.390A>C (p.Glu130Asp) c.1206A>C (p.Glu402Asp) n.2337A>C | |
| X | g.22178287A>G | CA515431794 | PHEX | c.51A>G (p.Glu17=) n.281A>G n.1171A>G c.1497A>G (p.Glu499=) c.741A>G (p.Glu247=) c.390A>G (p.Glu130=) c.1206A>G (p.Glu402=) n.2337A>G | |
| X | g.22178287A>T | CA412574810 | PHEX | c.51A>T (p.Glu17Asp) n.281A>T n.1171A>T c.1497A>T (p.Glu499Asp) c.741A>T (p.Glu247Asp) c.390A>T (p.Glu130Asp) c.1206A>T (p.Glu402Asp) n.2337A>T | |
| X | g.22178288G>A | CA10368280 | PHEX | c.52G>A (p.Ala18Thr) n.282G>A n.1172G>A c.1498G>A (p.Ala500Thr) c.742G>A (p.Ala248Thr) c.391G>A (p.Ala131Thr) c.1207G>A (p.Ala403Thr) n.2338G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.22178288G>C | CA412574812 | PHEX | c.52G>C (p.Ala18Pro) n.282G>C n.1172G>C c.1498G>C (p.Ala500Pro) c.742G>C (p.Ala248Pro) c.391G>C (p.Ala131Pro) c.1207G>C (p.Ala403Pro) n.2338G>C | |
| X | g.22178288G= | CA2419195568 | PHEX | c.52G= (p.Ala18=) n.282G= n.1172G= c.1498G= (p.Ala500=) c.742G= (p.Ala248=) c.391G= (p.Ala131=) c.1207G= (p.Ala403=) n.2338G= | |
| X | g.22178288G>T | CA412574813 | PHEX | c.52G>T (p.Ala18Ser) n.282G>T n.1172G>T c.1498G>T (p.Ala500Ser) c.742G>T (p.Ala248Ser) c.391G>T (p.Ala131Ser) c.1207G>T (p.Ala403Ser) n.2338G>T | |
| X | g.22178289C>A | CA10368281 | PHEX | c.53C>A (p.Ala18Asp) n.283C>A n.1173C>A c.1499C>A (p.Ala500Asp) c.743C>A (p.Ala248Asp) c.392C>A (p.Ala131Asp) c.1208C>A (p.Ala403Asp) n.2339C>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.22178289C= | CA2419195569 | PHEX | c.53C= (p.Ala18=) n.283C= n.1173C= c.1499C= (p.Ala500=) c.743C= (p.Ala248=) c.392C= (p.Ala131=) c.1208C= (p.Ala403=) n.2339C= | |
| X | g.22178289C>G | CA412574815 | PHEX | c.53C>G (p.Ala18Gly) n.283C>G n.1173C>G c.1499C>G (p.Ala500Gly) c.743C>G (p.Ala248Gly) c.392C>G (p.Ala131Gly) c.1208C>G (p.Ala403Gly) n.2339C>G | |
| X | g.22178289C>T | CA412574816 | PHEX | c.53C>T (p.Ala18Val) n.283C>T n.1173C>T c.1499C>T (p.Ala500Val) c.743C>T (p.Ala248Val) c.392C>T (p.Ala131Val) c.1208C>T (p.Ala403Val) n.2339C>T | gnomAD v4 |
| X | g.22178290C>A | CA515431795 | PHEX | c.54C>A (p.Ala18=) n.284C>A n.1174C>A c.1500C>A (p.Ala500=) c.744C>A (p.Ala248=) c.393C>A (p.Ala131=) c.1209C>A (p.Ala403=) n.2340C>A | gnomAD v4 |
| X | g.22178290C= | CA2419195570 | PHEX | c.54C= (p.Ala18=) n.284C= n.1174C= c.1500C= (p.Ala500=) c.744C= (p.Ala248=) c.393C= (p.Ala131=) c.1209C= (p.Ala403=) n.2340C= | |
| X | g.22178290C>G | CA515431796 | PHEX | c.54C>G (p.Ala18=) n.284C>G n.1174C>G c.1500C>G (p.Ala500=) c.744C>G (p.Ala248=) c.393C>G (p.Ala131=) c.1209C>G (p.Ala403=) n.2340C>G | |
| X | g.22178290C>T | CA515431797 | PHEX | c.54C>T (p.Ala18=) n.284C>T n.1174C>T c.1500C>T (p.Ala500=) c.744C>T (p.Ala248=) c.393C>T (p.Ala131=) c.1209C>T (p.Ala403=) n.2340C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.22178291_22178296del | CA2573158620 | PHEX | c.55_60del (p.Asp19_Tyr20del) n.285_290del n.1175_1180del c.1501_1506del (p.Asp501_Tyr502del) c.745_750del (p.Asp249_Tyr250del) c.394_399del (p.Asp132_Tyr133del) c.1210_1215del (p.Asp404_Tyr405del) n.2341_2346del | ClinVar dbSNP |
| X | g.22178291G>A | CA327528669 | PHEX | c.55G>A (p.Asp19Asn) n.285G>A n.1175G>A c.1501G>A (p.Asp501Asn) c.745G>A (p.Asp249Asn) c.394G>A (p.Asp132Asn) c.1210G>A (p.Asp404Asn) n.2341G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22178291G>C | CA412574817 | PHEX | c.55G>C (p.Asp19His) n.285G>C n.1175G>C c.1501G>C (p.Asp501His) c.745G>C (p.Asp249His) c.394G>C (p.Asp132His) c.1210G>C (p.Asp404His) n.2341G>C | |
| X | g.22178291G= | CA2419195571 | PHEX | c.55G= (p.Asp19=) n.285G= n.1175G= c.1501G= (p.Asp501=) c.745G= (p.Asp249=) c.394G= (p.Asp132=) c.1210G= (p.Asp404=) n.2341G= | |
| X | g.22178291G>T | CA327528670 | PHEX | c.55G>T (p.Asp19Tyr) n.285G>T n.1175G>T c.1501G>T (p.Asp501Tyr) c.745G>T (p.Asp249Tyr) c.394G>T (p.Asp132Tyr) c.1210G>T (p.Asp404Tyr) n.2341G>T | dbSNP gnomAD v4 |
| X | g.22178291_22178294dup | CA2695233013 | PHEX | c.55_58dup (p.Tyr20Ter) n.285_288dup n.1175_1178dup c.1501_1504dup (p.Tyr502Ter) c.745_748dup (p.Tyr250Ter) c.394_397dup (p.Tyr133Ter) c.1210_1213dup (p.Tyr405Ter) n.2341_2344dup | |
| X | g.22178292A= | CA2419195572 | PHEX | c.56A= (p.Asp19=) n.286A= n.1176A= c.1502A= (p.Asp501=) c.746A= (p.Asp249=) c.395A= (p.Asp132=) c.1211A= (p.Asp404=) n.2342A= | |
| X | g.22178292A>C | CA412574818 | PHEX | c.56A>C (p.Asp19Ala) n.286A>C n.1176A>C c.1502A>C (p.Asp501Ala) c.746A>C (p.Asp249Ala) c.395A>C (p.Asp132Ala) c.1211A>C (p.Asp404Ala) n.2342A>C | |
| X | g.22178292A>G | CA10368282 | PHEX | c.56A>G (p.Asp19Gly) n.286A>G n.1176A>G c.1502A>G (p.Asp501Gly) c.746A>G (p.Asp249Gly) c.395A>G (p.Asp132Gly) c.1211A>G (p.Asp404Gly) n.2342A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.22178292A>T | CA412574819 | PHEX | c.56A>T (p.Asp19Val) n.286A>T n.1176A>T c.1502A>T (p.Asp501Val) c.746A>T (p.Asp249Val) c.395A>T (p.Asp132Val) c.1211A>T (p.Asp404Val) n.2342A>T | gnomAD v4 |
| X | g.22178293C>A | CA412574820 | PHEX | c.57C>A (p.Asp19Glu) n.287C>A n.1177C>A c.1503C>A (p.Asp501Glu) c.747C>A (p.Asp249Glu) c.396C>A (p.Asp132Glu) c.1212C>A (p.Asp404Glu) n.2343C>A | gnomAD v4 |
| X | g.22178293C>G | CA412574821 | PHEX | c.57C>G (p.Asp19Glu) n.287C>G n.1177C>G c.1503C>G (p.Asp501Glu) c.747C>G (p.Asp249Glu) c.396C>G (p.Asp132Glu) c.1212C>G (p.Asp404Glu) n.2343C>G | |
| X | g.22178293C>T | CA515431798 | PHEX | c.57C>T (p.Asp19=) n.287C>T n.1177C>T c.1503C>T (p.Asp501=) c.747C>T (p.Asp249=) c.396C>T (p.Asp132=) c.1212C>T (p.Asp404=) n.2343C>T | gnomAD v4 |
| X | g.22178294T>A | CA412574824 | PHEX | c.58T>A (p.Tyr20Asn) n.288T>A n.1178T>A c.1504T>A (p.Tyr502Asn) c.748T>A (p.Tyr250Asn) c.397T>A (p.Tyr133Asn) c.1213T>A (p.Tyr405Asn) n.2344T>A | |
| X | g.22178294T>C | CA412574822 | PHEX | c.58T>C (p.Tyr20His) n.288T>C n.1178T>C c.1504T>C (p.Tyr502His) c.748T>C (p.Tyr250His) c.397T>C (p.Tyr133His) c.1213T>C (p.Tyr405His) n.2344T>C | |
| X | g.22178294T>G | CA412574823 | PHEX | c.58T>G (p.Tyr20Asp) n.288T>G n.1178T>G c.1504T>G (p.Tyr502Asp) c.748T>G (p.Tyr250Asp) c.397T>G (p.Tyr133Asp) c.1213T>G (p.Tyr405Asp) n.2344T>G | |
| X | g.22178295A>C | CA412574825 | PHEX | c.59A>C (p.Tyr20Ser) n.289A>C n.1179A>C c.1505A>C (p.Tyr502Ser) c.749A>C (p.Tyr250Ser) c.398A>C (p.Tyr133Ser) c.1214A>C (p.Tyr405Ser) n.2345A>C |