UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.5863896G>A | CA415786947 | NPHP4 | c.4134C>T (p.Ser1378=) n.3285C>T c.*3035C>T (n.*3035C>T) n.2882C>T n.3866C>T c.*1945C>T (n.*1945C>T) c.2595C>T (p.Ser865=) c.2598C>T (p.Ser866=) n.4949C>T c.4131C>T (p.Ser1377=) c.4092C>T (p.Ser1364=) c.4023C>T (p.Ser1341=) c.4080C>T (p.Ser1360=) c.4089C>T (p.Ser1363=) c.3606C>T (p.Ser1202=) c.3336C>T (p.Ser1112=) n.4000C>T n.3985C>T n.4901C>T | COSMIC |
| 1 | g.5863896G>C | CA415786948 | NPHP4 | c.4134C>G (p.Ser1378=) n.3285C>G c.*3035C>G (n.*3035C>G) n.2882C>G n.3866C>G c.*1945C>G (n.*1945C>G) c.2595C>G (p.Ser865=) c.2598C>G (p.Ser866=) n.4949C>G c.4131C>G (p.Ser1377=) c.4092C>G (p.Ser1364=) c.4023C>G (p.Ser1341=) c.4080C>G (p.Ser1360=) c.4089C>G (p.Ser1363=) c.3606C>G (p.Ser1202=) c.3336C>G (p.Ser1112=) n.4000C>G n.3985C>G n.4901C>G | |
| 1 | g.5863896G>T | CA415786949 | NPHP4 | c.4134C>A (p.Ser1378=) n.3285C>A c.*3035C>A (n.*3035C>A) n.2882C>A n.3866C>A c.*1945C>A (n.*1945C>A) c.2595C>A (p.Ser865=) c.2598C>A (p.Ser866=) n.4949C>A c.4131C>A (p.Ser1377=) c.4092C>A (p.Ser1364=) c.4023C>A (p.Ser1341=) c.4080C>A (p.Ser1360=) c.4089C>A (p.Ser1363=) c.3606C>A (p.Ser1202=) c.3336C>A (p.Ser1112=) n.4000C>A n.3985C>A n.4901C>A | |
| 1 | g.5863897G>A | CA338048770 | NPHP4 | c.4133C>T (p.Ser1378Phe) n.3284C>T c.*3034C>T (n.*3034C>T) n.2881C>T n.3865C>T c.*1944C>T (n.*1944C>T) c.2594C>T (p.Ser865Phe) c.2597C>T (p.Ser866Phe) n.4948C>T c.4130C>T (p.Ser1377Phe) c.4091C>T (p.Ser1364Phe) c.4022C>T (p.Ser1341Phe) c.4079C>T (p.Ser1360Phe) c.4088C>T (p.Ser1363Phe) c.3605C>T (p.Ser1202Phe) c.3335C>T (p.Ser1112Phe) n.3999C>T n.3984C>T n.4900C>T | gnomAD v4 COSMIC |
| 1 | g.5863897G>C | CA338048772 | NPHP4 | c.4133C>G (p.Ser1378Cys) n.3284C>G c.*3034C>G (n.*3034C>G) n.2881C>G n.3865C>G c.*1944C>G (n.*1944C>G) c.2594C>G (p.Ser865Cys) c.2597C>G (p.Ser866Cys) n.4948C>G c.4130C>G (p.Ser1377Cys) c.4091C>G (p.Ser1364Cys) c.4022C>G (p.Ser1341Cys) c.4079C>G (p.Ser1360Cys) c.4088C>G (p.Ser1363Cys) c.3605C>G (p.Ser1202Cys) c.3335C>G (p.Ser1112Cys) n.3999C>G n.3984C>G n.4900C>G | |
| 1 | g.5863897G>T | CA338048773 | NPHP4 | c.4133C>A (p.Ser1378Tyr) n.3284C>A c.*3034C>A (n.*3034C>A) n.2881C>A n.3865C>A c.*1944C>A (n.*1944C>A) c.2594C>A (p.Ser865Tyr) c.2597C>A (p.Ser866Tyr) n.4948C>A c.4130C>A (p.Ser1377Tyr) c.4091C>A (p.Ser1364Tyr) c.4022C>A (p.Ser1341Tyr) c.4079C>A (p.Ser1360Tyr) c.4088C>A (p.Ser1363Tyr) c.3605C>A (p.Ser1202Tyr) c.3335C>A (p.Ser1112Tyr) n.3999C>A n.3984C>A n.4900C>A | gnomAD v4 |
| 1 | g.5863898A= | CA1143781744 | NPHP4 | c.4132T= (p.Ser1378=) n.3283T= c.*3033T= (n.*3033T=) n.2880T= n.3864T= c.*1943T= (n.*1943T=) c.2593T= (p.Ser865=) c.2596T= (p.Ser866=) n.4947T= c.4129T= (p.Ser1377=) c.4090T= (p.Ser1364=) c.4021T= (p.Ser1341=) c.4078T= (p.Ser1360=) c.4087T= (p.Ser1363=) c.3604T= (p.Ser1202=) c.3334T= (p.Ser1112=) n.3998T= n.3983T= n.4899T= | |
| 1 | g.5863898A>C | CA17124822 | NPHP4 | c.4132T>G (p.Ser1378Ala) n.3283T>G c.*3033T>G (n.*3033T>G) n.2880T>G n.3864T>G c.*1943T>G (n.*1943T>G) c.2593T>G (p.Ser865Ala) c.2596T>G (p.Ser866Ala) n.4947T>G c.4129T>G (p.Ser1377Ala) c.4090T>G (p.Ser1364Ala) c.4021T>G (p.Ser1341Ala) c.4078T>G (p.Ser1360Ala) c.4087T>G (p.Ser1363Ala) c.3604T>G (p.Ser1202Ala) c.3334T>G (p.Ser1112Ala) n.3998T>G n.3983T>G n.4899T>G | dbSNP |
| 1 | g.5863898A>G | CA338048776 | NPHP4 | c.4132T>C (p.Ser1378Pro) n.3283T>C c.*3033T>C (n.*3033T>C) n.2880T>C n.3864T>C c.*1943T>C (n.*1943T>C) c.2593T>C (p.Ser865Pro) c.2596T>C (p.Ser866Pro) n.4947T>C c.4129T>C (p.Ser1377Pro) c.4090T>C (p.Ser1364Pro) c.4021T>C (p.Ser1341Pro) c.4078T>C (p.Ser1360Pro) c.4087T>C (p.Ser1363Pro) c.3604T>C (p.Ser1202Pro) c.3334T>C (p.Ser1112Pro) n.3998T>C n.3983T>C n.4899T>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.5863898A>T | CA338048778 | NPHP4 | c.4132T>A (p.Ser1378Thr) n.3283T>A c.*3033T>A (n.*3033T>A) n.2880T>A n.3864T>A c.*1943T>A (n.*1943T>A) c.2593T>A (p.Ser865Thr) c.2596T>A (p.Ser866Thr) n.4947T>A c.4129T>A (p.Ser1377Thr) c.4090T>A (p.Ser1364Thr) c.4021T>A (p.Ser1341Thr) c.4078T>A (p.Ser1360Thr) c.4087T>A (p.Ser1363Thr) c.3604T>A (p.Ser1202Thr) c.3334T>A (p.Ser1112Thr) n.3998T>A n.3983T>A n.4899T>A | gnomAD v4 COSMIC |
| 1 | g.5863899G>A | CA415786950 | NPHP4 | c.4131C>T (p.Asp1377=) n.3282C>T c.*3032C>T (n.*3032C>T) n.2879C>T n.3863C>T c.*1942C>T (n.*1942C>T) c.2592C>T (p.Asp864=) c.2595C>T (p.Asp865=) n.4946C>T c.4128C>T (p.Asp1376=) c.4089C>T (p.Asp1363=) c.4020C>T (p.Asp1340=) c.4077C>T (p.Asp1359=) c.4086C>T (p.Asp1362=) c.3603C>T (p.Asp1201=) c.3333C>T (p.Asp1111=) n.3997C>T n.3982C>T n.4898C>T | |
| 1 | g.5863899G>C | CA338048779 | NPHP4 | c.4131C>G (p.Asp1377Glu) n.3282C>G c.*3032C>G (n.*3032C>G) n.2879C>G n.3863C>G c.*1942C>G (n.*1942C>G) c.2592C>G (p.Asp864Glu) c.2595C>G (p.Asp865Glu) n.4946C>G c.4128C>G (p.Asp1376Glu) c.4089C>G (p.Asp1363Glu) c.4020C>G (p.Asp1340Glu) c.4077C>G (p.Asp1359Glu) c.4086C>G (p.Asp1362Glu) c.3603C>G (p.Asp1201Glu) c.3333C>G (p.Asp1111Glu) n.3997C>G n.3982C>G n.4898C>G | gnomAD v4 |
| 1 | g.5863899G>T | CA338048780 | NPHP4 | c.4131C>A (p.Asp1377Glu) n.3282C>A c.*3032C>A (n.*3032C>A) n.2879C>A n.3863C>A c.*1942C>A (n.*1942C>A) c.2592C>A (p.Asp864Glu) c.2595C>A (p.Asp865Glu) n.4946C>A c.4128C>A (p.Asp1376Glu) c.4089C>A (p.Asp1363Glu) c.4020C>A (p.Asp1340Glu) c.4077C>A (p.Asp1359Glu) c.4086C>A (p.Asp1362Glu) c.3603C>A (p.Asp1201Glu) c.3333C>A (p.Asp1111Glu) n.3997C>A n.3982C>A n.4898C>A | |
| 1 | g.5863900T>A | CA338048783 | NPHP4 | c.4130A>T (p.Asp1377Val) n.3281A>T c.*3031A>T (n.*3031A>T) n.2878A>T n.3862A>T c.*1941A>T (n.*1941A>T) c.2591A>T (p.Asp864Val) c.2594A>T (p.Asp865Val) n.4945A>T c.4127A>T (p.Asp1376Val) c.4088A>T (p.Asp1363Val) c.4019A>T (p.Asp1340Val) c.4076A>T (p.Asp1359Val) c.4085A>T (p.Asp1362Val) c.3602A>T (p.Asp1201Val) c.3332A>T (p.Asp1111Val) n.3996A>T n.3981A>T n.4897A>T | gnomAD v4 |
| 1 | g.5863900T>C | CA338048785 | NPHP4 | c.4130A>G (p.Asp1377Gly) n.3281A>G c.*3031A>G (n.*3031A>G) n.2878A>G n.3862A>G c.*1941A>G (n.*1941A>G) c.2591A>G (p.Asp864Gly) c.2594A>G (p.Asp865Gly) n.4945A>G c.4127A>G (p.Asp1376Gly) c.4088A>G (p.Asp1363Gly) c.4019A>G (p.Asp1340Gly) c.4076A>G (p.Asp1359Gly) c.4085A>G (p.Asp1362Gly) c.3602A>G (p.Asp1201Gly) c.3332A>G (p.Asp1111Gly) n.3996A>G n.3981A>G n.4897A>G | |
| 1 | g.5863900T>G | CA338048786 | NPHP4 | c.4130A>C (p.Asp1377Ala) n.3281A>C c.*3031A>C (n.*3031A>C) n.2878A>C n.3862A>C c.*1941A>C (n.*1941A>C) c.2591A>C (p.Asp864Ala) c.2594A>C (p.Asp865Ala) n.4945A>C c.4127A>C (p.Asp1376Ala) c.4088A>C (p.Asp1363Ala) c.4019A>C (p.Asp1340Ala) c.4076A>C (p.Asp1359Ala) c.4085A>C (p.Asp1362Ala) c.3602A>C (p.Asp1201Ala) c.3332A>C (p.Asp1111Ala) n.3996A>C n.3981A>C n.4897A>C | |
| 1 | g.5863901C>A | CA338048787 | NPHP4 | c.4129G>T (p.Asp1377Tyr) n.3280G>T c.*3030G>T (n.*3030G>T) n.2877G>T n.3861G>T c.*1940G>T (n.*1940G>T) c.2590G>T (p.Asp864Tyr) c.2593G>T (p.Asp865Tyr) n.4944G>T c.4126G>T (p.Asp1376Tyr) c.4087G>T (p.Asp1363Tyr) c.4018G>T (p.Asp1340Tyr) c.4075G>T (p.Asp1359Tyr) c.4084G>T (p.Asp1362Tyr) c.3601G>T (p.Asp1201Tyr) c.3331G>T (p.Asp1111Tyr) n.3995G>T n.3980G>T n.4896G>T | gnomAD v4 |
| 1 | g.5863901C>G | CA338048791 | NPHP4 | c.4129G>C (p.Asp1377His) n.3280G>C c.*3030G>C (n.*3030G>C) n.2877G>C n.3861G>C c.*1940G>C (n.*1940G>C) c.2590G>C (p.Asp864His) c.2593G>C (p.Asp865His) n.4944G>C c.4126G>C (p.Asp1376His) c.4087G>C (p.Asp1363His) c.4018G>C (p.Asp1340His) c.4075G>C (p.Asp1359His) c.4084G>C (p.Asp1362His) c.3601G>C (p.Asp1201His) c.3331G>C (p.Asp1111His) n.3995G>C n.3980G>C n.4896G>C | |
| 1 | g.5863901C>T | CA338048789 | NPHP4 | c.4129G>A (p.Asp1377Asn) n.3280G>A c.*3030G>A (n.*3030G>A) n.2877G>A n.3861G>A c.*1940G>A (n.*1940G>A) c.2590G>A (p.Asp864Asn) c.2593G>A (p.Asp865Asn) n.4944G>A c.4126G>A (p.Asp1376Asn) c.4087G>A (p.Asp1363Asn) c.4018G>A (p.Asp1340Asn) c.4075G>A (p.Asp1359Asn) c.4084G>A (p.Asp1362Asn) c.3601G>A (p.Asp1201Asn) c.3331G>A (p.Asp1111Asn) n.3995G>A n.3980G>A n.4896G>A | |
| 1 | g.5863902C>A | CA338048793 | NPHP4 | c.4128G>T (p.Glu1376Asp) n.3279G>T c.*3029G>T (n.*3029G>T) n.2876G>T n.3860G>T c.*1939G>T (n.*1939G>T) c.2589G>T (p.Glu863Asp) c.2592G>T (p.Glu864Asp) n.4943G>T c.4125G>T (p.Glu1375Asp) c.4086G>T (p.Glu1362Asp) c.4017G>T (p.Glu1339Asp) c.4074G>T (p.Glu1358Asp) c.4083G>T (p.Glu1361Asp) c.3600G>T (p.Glu1200Asp) c.3330G>T (p.Glu1110Asp) n.3994G>T n.3979G>T n.4895G>T | |
| 1 | g.5863902C>G | CA338048794 | NPHP4 | c.4128G>C (p.Glu1376Asp) n.3279G>C c.*3029G>C (n.*3029G>C) n.2876G>C n.3860G>C c.*1939G>C (n.*1939G>C) c.2589G>C (p.Glu863Asp) c.2592G>C (p.Glu864Asp) n.4943G>C c.4125G>C (p.Glu1375Asp) c.4086G>C (p.Glu1362Asp) c.4017G>C (p.Glu1339Asp) c.4074G>C (p.Glu1358Asp) c.4083G>C (p.Glu1361Asp) c.3600G>C (p.Glu1200Asp) c.3330G>C (p.Glu1110Asp) n.3994G>C n.3979G>C n.4895G>C | |
| 1 | g.5863902C>T | CA415786951 | NPHP4 | c.4128G>A (p.Glu1376=) n.3279G>A c.*3029G>A (n.*3029G>A) n.2876G>A n.3860G>A c.*1939G>A (n.*1939G>A) c.2589G>A (p.Glu863=) c.2592G>A (p.Glu864=) n.4943G>A c.4125G>A (p.Glu1375=) c.4086G>A (p.Glu1362=) c.4017G>A (p.Glu1339=) c.4074G>A (p.Glu1358=) c.4083G>A (p.Glu1361=) c.3600G>A (p.Glu1200=) c.3330G>A (p.Glu1110=) n.3994G>A n.3979G>A n.4895G>A | |
| 1 | g.5863903T>A | CA338048797 | NPHP4 | c.4127A>T (p.Glu1376Val) n.3278A>T c.*3028A>T (n.*3028A>T) n.2875A>T n.3859A>T c.*1938A>T (n.*1938A>T) c.2588A>T (p.Glu863Val) c.2591A>T (p.Glu864Val) n.4942A>T c.4124A>T (p.Glu1375Val) c.4085A>T (p.Glu1362Val) c.4016A>T (p.Glu1339Val) c.4073A>T (p.Glu1358Val) c.4082A>T (p.Glu1361Val) c.3599A>T (p.Glu1200Val) c.3329A>T (p.Glu1110Val) n.3993A>T n.3978A>T n.4894A>T | |
| 1 | g.5863903T>C | CA553348 | NPHP4 | c.4127A>G (p.Glu1376Gly) n.3278A>G c.*3028A>G (n.*3028A>G) n.2875A>G n.3859A>G c.*1938A>G (n.*1938A>G) c.2588A>G (p.Glu863Gly) c.2591A>G (p.Glu864Gly) n.4942A>G c.4124A>G (p.Glu1375Gly) c.4085A>G (p.Glu1362Gly) c.4016A>G (p.Glu1339Gly) c.4073A>G (p.Glu1358Gly) c.4082A>G (p.Glu1361Gly) c.3599A>G (p.Glu1200Gly) c.3329A>G (p.Glu1110Gly) n.3993A>G n.3978A>G n.4894A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.5863903T>G | CA338048799 | NPHP4 | c.4127A>C (p.Glu1376Ala) n.3278A>C c.*3028A>C (n.*3028A>C) n.2875A>C n.3859A>C c.*1938A>C (n.*1938A>C) c.2588A>C (p.Glu863Ala) c.2591A>C (p.Glu864Ala) n.4942A>C c.4124A>C (p.Glu1375Ala) c.4085A>C (p.Glu1362Ala) c.4016A>C (p.Glu1339Ala) c.4073A>C (p.Glu1358Ala) c.4082A>C (p.Glu1361Ala) c.3599A>C (p.Glu1200Ala) c.3329A>C (p.Glu1110Ala) n.3993A>C n.3978A>C n.4894A>C | |
| 1 | g.5863903T= | CA1149071166 | NPHP4 | c.4127A= (p.Glu1376=) n.3278A= c.*3028A= (n.*3028A=) n.2875A= n.3859A= c.*1938A= (n.*1938A=) c.2588A= (p.Glu863=) c.2591A= (p.Glu864=) n.4942A= c.4124A= (p.Glu1375=) c.4085A= (p.Glu1362=) c.4016A= (p.Glu1339=) c.4073A= (p.Glu1358=) c.4082A= (p.Glu1361=) c.3599A= (p.Glu1200=) c.3329A= (p.Glu1110=) n.3993A= n.3978A= n.4894A= | |
| 1 | g.5863904C>A | CA338048801 | NPHP4 | c.4126G>T (p.Glu1376Ter) n.3277G>T c.*3027G>T (n.*3027G>T) n.2874G>T n.3858G>T c.*1937G>T (n.*1937G>T) c.2587G>T (p.Glu863Ter) c.2590G>T (p.Glu864Ter) n.4941G>T c.4123G>T (p.Glu1375Ter) c.4084G>T (p.Glu1362Ter) c.4015G>T (p.Glu1339Ter) c.4072G>T (p.Glu1358Ter) c.4081G>T (p.Glu1361Ter) c.3598G>T (p.Glu1200Ter) c.3328G>T (p.Glu1110Ter) n.3992G>T n.3977G>T n.4893G>T | |
| 1 | g.5863904C= | CA1151209087 | NPHP4 | c.4126G= (p.Glu1376=) n.3277G= c.*3027G= (n.*3027G=) n.2874G= n.3858G= c.*1937G= (n.*1937G=) c.2587G= (p.Glu863=) c.2590G= (p.Glu864=) n.4941G= c.4123G= (p.Glu1375=) c.4084G= (p.Glu1362=) c.4015G= (p.Glu1339=) c.4072G= (p.Glu1358=) c.4081G= (p.Glu1361=) c.3598G= (p.Glu1200=) c.3328G= (p.Glu1110=) n.3992G= n.3977G= n.4893G= | |
| 1 | g.5863904C>G | CA338048803 | NPHP4 | c.4126G>C (p.Glu1376Gln) n.3277G>C c.*3027G>C (n.*3027G>C) n.2874G>C n.3858G>C c.*1937G>C (n.*1937G>C) c.2587G>C (p.Glu863Gln) c.2590G>C (p.Glu864Gln) n.4941G>C c.4123G>C (p.Glu1375Gln) c.4084G>C (p.Glu1362Gln) c.4015G>C (p.Glu1339Gln) c.4072G>C (p.Glu1358Gln) c.4081G>C (p.Glu1361Gln) c.3598G>C (p.Glu1200Gln) c.3328G>C (p.Glu1110Gln) n.3992G>C n.3977G>C n.4893G>C | dbSNP |
| 1 | g.5863904C>T | CA338048804 | NPHP4 | c.4126G>A (p.Glu1376Lys) n.3277G>A c.*3027G>A (n.*3027G>A) n.2874G>A n.3858G>A c.*1937G>A (n.*1937G>A) c.2587G>A (p.Glu863Lys) c.2590G>A (p.Glu864Lys) n.4941G>A c.4123G>A (p.Glu1375Lys) c.4084G>A (p.Glu1362Lys) c.4015G>A (p.Glu1339Lys) c.4072G>A (p.Glu1358Lys) c.4081G>A (p.Glu1361Lys) c.3598G>A (p.Glu1200Lys) c.3328G>A (p.Glu1110Lys) n.3992G>A n.3977G>A n.4893G>A | gnomAD v4 |
| 1 | g.5863905T>A | CA338048807 | NPHP4 | c.4125A>T (p.Arg1375Ser) n.3276A>T c.*3026A>T (n.*3026A>T) n.2873A>T n.3857A>T c.*1936A>T (n.*1936A>T) c.2586A>T (p.Arg862Ser) c.2589A>T (p.Arg863Ser) n.4940A>T c.4122A>T (p.Arg1374Ser) c.4083A>T (p.Arg1361Ser) c.4014A>T (p.Arg1338Ser) c.4071A>T (p.Arg1357Ser) c.4080A>T (p.Arg1360Ser) c.3597A>T (p.Arg1199Ser) c.3327A>T (p.Arg1109Ser) n.3991A>T n.3976A>T n.4892A>T | |
| 1 | g.5863905T>C | CA415786952 | NPHP4 | c.4125A>G (p.Arg1375=) n.3276A>G c.*3026A>G (n.*3026A>G) n.2873A>G n.3857A>G c.*1936A>G (n.*1936A>G) c.2586A>G (p.Arg862=) c.2589A>G (p.Arg863=) n.4940A>G c.4122A>G (p.Arg1374=) c.4083A>G (p.Arg1361=) c.4014A>G (p.Arg1338=) c.4071A>G (p.Arg1357=) c.4080A>G (p.Arg1360=) c.3597A>G (p.Arg1199=) c.3327A>G (p.Arg1109=) n.3991A>G n.3976A>G n.4892A>G | dbSNP |
| 1 | g.5863905T>G | CA338048808 | NPHP4 | c.4125A>C (p.Arg1375Ser) n.3276A>C c.*3026A>C (n.*3026A>C) n.2873A>C n.3857A>C c.*1936A>C (n.*1936A>C) c.2586A>C (p.Arg862Ser) c.2589A>C (p.Arg863Ser) n.4940A>C c.4122A>C (p.Arg1374Ser) c.4083A>C (p.Arg1361Ser) c.4014A>C (p.Arg1338Ser) c.4071A>C (p.Arg1357Ser) c.4080A>C (p.Arg1360Ser) c.3597A>C (p.Arg1199Ser) c.3327A>C (p.Arg1109Ser) n.3991A>C n.3976A>C n.4892A>C | |
| 1 | g.5863906C>A | CA338048810 | NPHP4 | c.4124G>T (p.Arg1375Ile) n.3275G>T c.*3025G>T (n.*3025G>T) n.2872G>T n.3856G>T c.*1935G>T (n.*1935G>T) c.2585G>T (p.Arg862Ile) c.2588G>T (p.Arg863Ile) n.4939G>T c.4121G>T (p.Arg1374Ile) c.4082G>T (p.Arg1361Ile) c.4013G>T (p.Arg1338Ile) c.4070G>T (p.Arg1357Ile) c.4079G>T (p.Arg1360Ile) c.3596G>T (p.Arg1199Ile) c.3326G>T (p.Arg1109Ile) n.3990G>T n.3975G>T n.4891G>T | |
| 1 | g.5863906C>G | CA338048813 | NPHP4 | c.4124G>C (p.Arg1375Thr) n.3275G>C c.*3025G>C (n.*3025G>C) n.2872G>C n.3856G>C c.*1935G>C (n.*1935G>C) c.2585G>C (p.Arg862Thr) c.2588G>C (p.Arg863Thr) n.4939G>C c.4121G>C (p.Arg1374Thr) c.4082G>C (p.Arg1361Thr) c.4013G>C (p.Arg1338Thr) c.4070G>C (p.Arg1357Thr) c.4079G>C (p.Arg1360Thr) c.3596G>C (p.Arg1199Thr) c.3326G>C (p.Arg1109Thr) n.3990G>C n.3975G>C n.4891G>C | |
| 1 | g.5863906C>T | CA338048812 | NPHP4 | c.4124G>A (p.Arg1375Lys) n.3275G>A c.*3025G>A (n.*3025G>A) n.2872G>A n.3856G>A c.*1935G>A (n.*1935G>A) c.2585G>A (p.Arg862Lys) c.2588G>A (p.Arg863Lys) n.4939G>A c.4121G>A (p.Arg1374Lys) c.4082G>A (p.Arg1361Lys) c.4013G>A (p.Arg1338Lys) c.4070G>A (p.Arg1357Lys) c.4079G>A (p.Arg1360Lys) c.3596G>A (p.Arg1199Lys) c.3326G>A (p.Arg1109Lys) n.3990G>A n.3975G>A n.4891G>A | COSMIC |
| 1 | g.5863907T>A | CA338048815 | NPHP4 | c.4123A>T (p.Arg1375Ter) n.3274A>T c.*3024A>T (n.*3024A>T) n.2871A>T n.3855A>T c.*1934A>T (n.*1934A>T) c.2584A>T (p.Arg862Ter) c.2587A>T (p.Arg863Ter) n.4938A>T c.4120A>T (p.Arg1374Ter) c.4081A>T (p.Arg1361Ter) c.4012A>T (p.Arg1338Ter) c.4069A>T (p.Arg1357Ter) c.4078A>T (p.Arg1360Ter) c.3595A>T (p.Arg1199Ter) c.3325A>T (p.Arg1109Ter) n.3989A>T n.3974A>T n.4890A>T | |
| 1 | g.5863907T>C | CA338048816 | NPHP4 | c.4123A>G (p.Arg1375Gly) n.3274A>G c.*3024A>G (n.*3024A>G) n.2871A>G n.3855A>G c.*1934A>G (n.*1934A>G) c.2584A>G (p.Arg862Gly) c.2587A>G (p.Arg863Gly) n.4938A>G c.4120A>G (p.Arg1374Gly) c.4081A>G (p.Arg1361Gly) c.4012A>G (p.Arg1338Gly) c.4069A>G (p.Arg1357Gly) c.4078A>G (p.Arg1360Gly) c.3595A>G (p.Arg1199Gly) c.3325A>G (p.Arg1109Gly) n.3989A>G n.3974A>G n.4890A>G | |
| 1 | g.5863907T>G | CA415786953 | NPHP4 | c.4123A>C (p.Arg1375=) n.3274A>C c.*3024A>C (n.*3024A>C) n.2871A>C n.3855A>C c.*1934A>C (n.*1934A>C) c.2584A>C (p.Arg862=) c.2587A>C (p.Arg863=) n.4938A>C c.4120A>C (p.Arg1374=) c.4081A>C (p.Arg1361=) c.4012A>C (p.Arg1338=) c.4069A>C (p.Arg1357=) c.4078A>C (p.Arg1360=) c.3595A>C (p.Arg1199=) c.3325A>C (p.Arg1109=) n.3989A>C n.3974A>C n.4890A>C | |
| 1 | g.5863908G>A | CA415786954 | NPHP4 | c.4122C>T (p.Phe1374=) n.3273C>T c.*3023C>T (n.*3023C>T) n.2870C>T n.3854C>T c.*1933C>T (n.*1933C>T) c.2583C>T (p.Phe861=) c.2586C>T (p.Phe862=) n.4937C>T c.4119C>T (p.Phe1373=) c.4080C>T (p.Phe1360=) c.4011C>T (p.Phe1337=) c.4068C>T (p.Phe1356=) c.4077C>T (p.Phe1359=) c.3594C>T (p.Phe1198=) c.3324C>T (p.Phe1108=) n.3988C>T n.3973C>T n.4889C>T | |
| 1 | g.5863908G>C | CA338048818 | NPHP4 | c.4122C>G (p.Phe1374Leu) n.3273C>G c.*3023C>G (n.*3023C>G) n.2870C>G n.3854C>G c.*1933C>G (n.*1933C>G) c.2583C>G (p.Phe861Leu) c.2586C>G (p.Phe862Leu) n.4937C>G c.4119C>G (p.Phe1373Leu) c.4080C>G (p.Phe1360Leu) c.4011C>G (p.Phe1337Leu) c.4068C>G (p.Phe1356Leu) c.4077C>G (p.Phe1359Leu) c.3594C>G (p.Phe1198Leu) c.3324C>G (p.Phe1108Leu) n.3988C>G n.3973C>G n.4889C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.5863908G= | CA1151209090 | NPHP4 | c.4122C= (p.Phe1374=) n.3273C= c.*3023C= (n.*3023C=) n.2870C= n.3854C= c.*1933C= (n.*1933C=) c.2583C= (p.Phe861=) c.2586C= (p.Phe862=) n.4937C= c.4119C= (p.Phe1373=) c.4080C= (p.Phe1360=) c.4011C= (p.Phe1337=) c.4068C= (p.Phe1356=) c.4077C= (p.Phe1359=) c.3594C= (p.Phe1198=) c.3324C= (p.Phe1108=) n.3988C= n.3973C= n.4889C= | |
| 1 | g.5863908G>T | CA338048820 | NPHP4 | c.4122C>A (p.Phe1374Leu) n.3273C>A c.*3023C>A (n.*3023C>A) n.2870C>A n.3854C>A c.*1933C>A (n.*1933C>A) c.2583C>A (p.Phe861Leu) c.2586C>A (p.Phe862Leu) n.4937C>A c.4119C>A (p.Phe1373Leu) c.4080C>A (p.Phe1360Leu) c.4011C>A (p.Phe1337Leu) c.4068C>A (p.Phe1356Leu) c.4077C>A (p.Phe1359Leu) c.3594C>A (p.Phe1198Leu) c.3324C>A (p.Phe1108Leu) n.3988C>A n.3973C>A n.4889C>A | |
| 1 | g.5863909A= | CA1151209092 | NPHP4 | c.4121T= (p.Phe1374=) n.3272T= c.*3022T= (n.*3022T=) n.2869T= n.3853T= c.*1932T= (n.*1932T=) c.2582T= (p.Phe861=) c.2585T= (p.Phe862=) n.4936T= c.4118T= (p.Phe1373=) c.4079T= (p.Phe1360=) c.4010T= (p.Phe1337=) c.4067T= (p.Phe1356=) c.4076T= (p.Phe1359=) c.3593T= (p.Phe1198=) c.3323T= (p.Phe1108=) n.3987T= n.3972T= n.4888T= | |
| 1 | g.5863909A>C | CA338048822 | NPHP4 | c.4121T>G (p.Phe1374Cys) n.3272T>G c.*3022T>G (n.*3022T>G) n.2869T>G n.3853T>G c.*1932T>G (n.*1932T>G) c.2582T>G (p.Phe861Cys) c.2585T>G (p.Phe862Cys) n.4936T>G c.4118T>G (p.Phe1373Cys) c.4079T>G (p.Phe1360Cys) c.4010T>G (p.Phe1337Cys) c.4067T>G (p.Phe1356Cys) c.4076T>G (p.Phe1359Cys) c.3593T>G (p.Phe1198Cys) c.3323T>G (p.Phe1108Cys) n.3987T>G n.3972T>G n.4888T>G | |
| 1 | g.5863909A>G | CA338048823 | NPHP4 | c.4121T>C (p.Phe1374Ser) n.3272T>C c.*3022T>C (n.*3022T>C) n.2869T>C n.3853T>C c.*1932T>C (n.*1932T>C) c.2582T>C (p.Phe861Ser) c.2585T>C (p.Phe862Ser) n.4936T>C c.4118T>C (p.Phe1373Ser) c.4079T>C (p.Phe1360Ser) c.4010T>C (p.Phe1337Ser) c.4067T>C (p.Phe1356Ser) c.4076T>C (p.Phe1359Ser) c.3593T>C (p.Phe1198Ser) c.3323T>C (p.Phe1108Ser) n.3987T>C n.3972T>C n.4888T>C | dbSNP |
| 1 | g.5863909A>T | CA338048825 | NPHP4 | c.4121T>A (p.Phe1374Tyr) n.3272T>A c.*3022T>A (n.*3022T>A) n.2869T>A n.3853T>A c.*1932T>A (n.*1932T>A) c.2582T>A (p.Phe861Tyr) c.2585T>A (p.Phe862Tyr) n.4936T>A c.4118T>A (p.Phe1373Tyr) c.4079T>A (p.Phe1360Tyr) c.4010T>A (p.Phe1337Tyr) c.4067T>A (p.Phe1356Tyr) c.4076T>A (p.Phe1359Tyr) c.3593T>A (p.Phe1198Tyr) c.3323T>A (p.Phe1108Tyr) n.3987T>A n.3972T>A n.4888T>A | |
| 1 | g.5863910A>C | CA338048827 | NPHP4 | c.4120T>G (p.Phe1374Val) n.3271T>G c.*3021T>G (n.*3021T>G) n.2868T>G n.3852T>G c.*1931T>G (n.*1931T>G) c.2581T>G (p.Phe861Val) c.2584T>G (p.Phe862Val) n.4935T>G c.4117T>G (p.Phe1373Val) c.4078T>G (p.Phe1360Val) c.4009T>G (p.Phe1337Val) c.4066T>G (p.Phe1356Val) c.4075T>G (p.Phe1359Val) c.3592T>G (p.Phe1198Val) c.3322T>G (p.Phe1108Val) n.3986T>G n.3971T>G n.4887T>G | |
| 1 | g.5863910A>G | CA338048829 | NPHP4 | c.4120T>C (p.Phe1374Leu) n.3271T>C c.*3021T>C (n.*3021T>C) n.2868T>C n.3852T>C c.*1931T>C (n.*1931T>C) c.2581T>C (p.Phe861Leu) c.2584T>C (p.Phe862Leu) n.4935T>C c.4117T>C (p.Phe1373Leu) c.4078T>C (p.Phe1360Leu) c.4009T>C (p.Phe1337Leu) c.4066T>C (p.Phe1356Leu) c.4075T>C (p.Phe1359Leu) c.3592T>C (p.Phe1198Leu) c.3322T>C (p.Phe1108Leu) n.3986T>C n.3971T>C n.4887T>C | |
| 1 | g.5863910A>T | CA338048831 | NPHP4 | c.4120T>A (p.Phe1374Ile) n.3271T>A c.*3021T>A (n.*3021T>A) n.2868T>A n.3852T>A c.*1931T>A (n.*1931T>A) c.2581T>A (p.Phe861Ile) c.2584T>A (p.Phe862Ile) n.4935T>A c.4117T>A (p.Phe1373Ile) c.4078T>A (p.Phe1360Ile) c.4009T>A (p.Phe1337Ile) c.4066T>A (p.Phe1356Ile) c.4075T>A (p.Phe1359Ile) c.3592T>A (p.Phe1198Ile) c.3322T>A (p.Phe1108Ile) n.3986T>A n.3971T>A n.4887T>A |