Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.5863892G>A | CA338048754 | NPHP4 | c.4138C>T (p.Gln1380Ter) n.3289C>T c.*3039C>T (n.*3039C>T) n.2886C>T n.3870C>T c.*1949C>T (n.*1949C>T) c.2599C>T (p.Gln867Ter) c.2602C>T (p.Gln868Ter) n.4953C>T c.4135C>T (p.Gln1379Ter) c.4096C>T (p.Gln1366Ter) c.4027C>T (p.Gln1343Ter) c.4084C>T (p.Gln1362Ter) c.4093C>T (p.Gln1365Ter) c.3610C>T (p.Gln1204Ter) c.3340C>T (p.Gln1114Ter) n.4004C>T n.3989C>T n.4905C>T | dbSNP gnomAD v4 |
1 | g.5863892G>C | CA338048755 | NPHP4 | c.4138C>G (p.Gln1380Glu) n.3289C>G c.*3039C>G (n.*3039C>G) n.2886C>G n.3870C>G c.*1949C>G (n.*1949C>G) c.2599C>G (p.Gln867Glu) c.2602C>G (p.Gln868Glu) n.4953C>G c.4135C>G (p.Gln1379Glu) c.4096C>G (p.Gln1366Glu) c.4027C>G (p.Gln1343Glu) c.4084C>G (p.Gln1362Glu) c.4093C>G (p.Gln1365Glu) c.3610C>G (p.Gln1204Glu) c.3340C>G (p.Gln1114Glu) n.4004C>G n.3989C>G n.4905C>G | |
1 | g.5863892G= | CA1151209075 | NPHP4 | c.4138C= (p.Gln1380=) n.3289C= c.*3039C= (n.*3039C=) n.2886C= n.3870C= c.*1949C= (n.*1949C=) c.2599C= (p.Gln867=) c.2602C= (p.Gln868=) n.4953C= c.4135C= (p.Gln1379=) c.4096C= (p.Gln1366=) c.4027C= (p.Gln1343=) c.4084C= (p.Gln1362=) c.4093C= (p.Gln1365=) c.3610C= (p.Gln1204=) c.3340C= (p.Gln1114=) n.4004C= n.3989C= n.4905C= | |
1 | g.5863892G>T | CA338048757 | NPHP4 | c.4138C>A (p.Gln1380Lys) n.3289C>A c.*3039C>A (n.*3039C>A) n.2886C>A n.3870C>A c.*1949C>A (n.*1949C>A) c.2599C>A (p.Gln867Lys) c.2602C>A (p.Gln868Lys) n.4953C>A c.4135C>A (p.Gln1379Lys) c.4096C>A (p.Gln1366Lys) c.4027C>A (p.Gln1343Lys) c.4084C>A (p.Gln1362Lys) c.4093C>A (p.Gln1365Lys) c.3610C>A (p.Gln1204Lys) c.3340C>A (p.Gln1114Lys) n.4004C>A n.3989C>A n.4905C>A | |
1 | g.5863893G>A | CA415786946 | NPHP4 | c.4137C>T (p.Phe1379=) n.3288C>T c.*3038C>T (n.*3038C>T) n.2885C>T n.3869C>T c.*1948C>T (n.*1948C>T) c.2598C>T (p.Phe866=) c.2601C>T (p.Phe867=) n.4952C>T c.4134C>T (p.Phe1378=) c.4095C>T (p.Phe1365=) c.4026C>T (p.Phe1342=) c.4083C>T (p.Phe1361=) c.4092C>T (p.Phe1364=) c.3609C>T (p.Phe1203=) c.3339C>T (p.Phe1113=) n.4003C>T n.3988C>T n.4904C>T | COSMIC |
1 | g.5863893G>C | CA553347 | NPHP4 | c.4137C>G (p.Phe1379Leu) n.3288C>G c.*3038C>G (n.*3038C>G) n.2885C>G n.3869C>G c.*1948C>G (n.*1948C>G) c.2598C>G (p.Phe866Leu) c.2601C>G (p.Phe867Leu) n.4952C>G c.4134C>G (p.Phe1378Leu) c.4095C>G (p.Phe1365Leu) c.4026C>G (p.Phe1342Leu) c.4083C>G (p.Phe1361Leu) c.4092C>G (p.Phe1364Leu) c.3609C>G (p.Phe1203Leu) c.3339C>G (p.Phe1113Leu) n.4003C>G n.3988C>G n.4904C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863893G= | CA1151209080 | NPHP4 | c.4137C= (p.Phe1379=) n.3288C= c.*3038C= (n.*3038C=) n.2885C= n.3869C= c.*1948C= (n.*1948C=) c.2598C= (p.Phe866=) c.2601C= (p.Phe867=) n.4952C= c.4134C= (p.Phe1378=) c.4095C= (p.Phe1365=) c.4026C= (p.Phe1342=) c.4083C= (p.Phe1361=) c.4092C= (p.Phe1364=) c.3609C= (p.Phe1203=) c.3339C= (p.Phe1113=) n.4003C= n.3988C= n.4904C= | |
1 | g.5863893G>T | CA338048759 | NPHP4 | c.4137C>A (p.Phe1379Leu) n.3288C>A c.*3038C>A (n.*3038C>A) n.2885C>A n.3869C>A c.*1948C>A (n.*1948C>A) c.2598C>A (p.Phe866Leu) c.2601C>A (p.Phe867Leu) n.4952C>A c.4134C>A (p.Phe1378Leu) c.4095C>A (p.Phe1365Leu) c.4026C>A (p.Phe1342Leu) c.4083C>A (p.Phe1361Leu) c.4092C>A (p.Phe1364Leu) c.3609C>A (p.Phe1203Leu) c.3339C>A (p.Phe1113Leu) n.4003C>A n.3988C>A n.4904C>A | |
1 | g.5863894A>C | CA338048761 | NPHP4 | c.4136T>G (p.Phe1379Cys) n.3287T>G c.*3037T>G (n.*3037T>G) n.2884T>G n.3868T>G c.*1947T>G (n.*1947T>G) c.2597T>G (p.Phe866Cys) c.2600T>G (p.Phe867Cys) n.4951T>G c.4133T>G (p.Phe1378Cys) c.4094T>G (p.Phe1365Cys) c.4025T>G (p.Phe1342Cys) c.4082T>G (p.Phe1361Cys) c.4091T>G (p.Phe1364Cys) c.3608T>G (p.Phe1203Cys) c.3338T>G (p.Phe1113Cys) n.4002T>G n.3987T>G n.4903T>G | |
1 | g.5863894A>G | CA338048765 | NPHP4 | c.4136T>C (p.Phe1379Ser) n.3287T>C c.*3037T>C (n.*3037T>C) n.2884T>C n.3868T>C c.*1947T>C (n.*1947T>C) c.2597T>C (p.Phe866Ser) c.2600T>C (p.Phe867Ser) n.4951T>C c.4133T>C (p.Phe1378Ser) c.4094T>C (p.Phe1365Ser) c.4025T>C (p.Phe1342Ser) c.4082T>C (p.Phe1361Ser) c.4091T>C (p.Phe1364Ser) c.3608T>C (p.Phe1203Ser) c.3338T>C (p.Phe1113Ser) n.4002T>C n.3987T>C n.4903T>C | |
1 | g.5863894A>T | CA338048763 | NPHP4 | c.4136T>A (p.Phe1379Tyr) n.3287T>A c.*3037T>A (n.*3037T>A) n.2884T>A n.3868T>A c.*1947T>A (n.*1947T>A) c.2597T>A (p.Phe866Tyr) c.2600T>A (p.Phe867Tyr) n.4951T>A c.4133T>A (p.Phe1378Tyr) c.4094T>A (p.Phe1365Tyr) c.4025T>A (p.Phe1342Tyr) c.4082T>A (p.Phe1361Tyr) c.4091T>A (p.Phe1364Tyr) c.3608T>A (p.Phe1203Tyr) c.3338T>A (p.Phe1113Tyr) n.4002T>A n.3987T>A n.4903T>A | |
1 | g.5863895del | CA2642901775 | NPHP4 | c.4136del (p.Phe1379SerfsTer27) n.3287del c.*3037del (n.*3037del) n.2884del n.3868del c.*1947del (n.*1947del) c.2597del (p.Phe866SerfsTer27) c.2600del (p.Phe867SerfsTer27) n.4951del c.4133del (p.Phe1378SerfsTer27) c.4094del (p.Phe1365SerfsTer27) c.4025del (p.Phe1342SerfsTer27) c.4082del (p.Phe1361SerfsTer27) c.4091del (p.Phe1364SerfsTer27) c.3608del (p.Phe1203SerfsTer27) c.3338del (p.Phe1113SerfsTer27) n.4002del n.3987del n.4903del | gnomAD v4 |
1 | g.5863895A>C | CA338048766 | NPHP4 | c.4135T>G (p.Phe1379Val) n.3286T>G c.*3036T>G (n.*3036T>G) n.2883T>G n.3867T>G c.*1946T>G (n.*1946T>G) c.2596T>G (p.Phe866Val) c.2599T>G (p.Phe867Val) n.4950T>G c.4132T>G (p.Phe1378Val) c.4093T>G (p.Phe1365Val) c.4024T>G (p.Phe1342Val) c.4081T>G (p.Phe1361Val) c.4090T>G (p.Phe1364Val) c.3607T>G (p.Phe1203Val) c.3337T>G (p.Phe1113Val) n.4001T>G n.3986T>G n.4902T>G | |
1 | g.5863895A>G | CA338048767 | NPHP4 | c.4135T>C (p.Phe1379Leu) n.3286T>C c.*3036T>C (n.*3036T>C) n.2883T>C n.3867T>C c.*1946T>C (n.*1946T>C) c.2596T>C (p.Phe866Leu) c.2599T>C (p.Phe867Leu) n.4950T>C c.4132T>C (p.Phe1378Leu) c.4093T>C (p.Phe1365Leu) c.4024T>C (p.Phe1342Leu) c.4081T>C (p.Phe1361Leu) c.4090T>C (p.Phe1364Leu) c.3607T>C (p.Phe1203Leu) c.3337T>C (p.Phe1113Leu) n.4001T>C n.3986T>C n.4902T>C | |
1 | g.5863895A>T | CA338048769 | NPHP4 | c.4135T>A (p.Phe1379Ile) n.3286T>A c.*3036T>A (n.*3036T>A) n.2883T>A n.3867T>A c.*1946T>A (n.*1946T>A) c.2596T>A (p.Phe866Ile) c.2599T>A (p.Phe867Ile) n.4950T>A c.4132T>A (p.Phe1378Ile) c.4093T>A (p.Phe1365Ile) c.4024T>A (p.Phe1342Ile) c.4081T>A (p.Phe1361Ile) c.4090T>A (p.Phe1364Ile) c.3607T>A (p.Phe1203Ile) c.3337T>A (p.Phe1113Ile) n.4001T>A n.3986T>A n.4902T>A | |
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 | |
1 | g.5863911C>A | CA415786955 | NPHP4 | c.4119G>T (p.Arg1373=) n.3270G>T c.*3020G>T (n.*3020G>T) n.2867G>T n.3851G>T c.*1930G>T (n.*1930G>T) c.2580G>T (p.Arg860=) c.2583G>T (p.Arg861=) n.4934G>T c.4116G>T (p.Arg1372=) c.4077G>T (p.Arg1359=) c.4008G>T (p.Arg1336=) c.4065G>T (p.Arg1355=) c.4074G>T (p.Arg1358=) c.3591G>T (p.Arg1197=) c.3321G>T (p.Arg1107=) n.3985G>T n.3970G>T n.4886G>T | COSMIC |
1 | g.5863911C>G | CA415786957 | NPHP4 | c.4119G>C (p.Arg1373=) n.3270G>C c.*3020G>C (n.*3020G>C) n.2867G>C n.3851G>C c.*1930G>C (n.*1930G>C) c.2580G>C (p.Arg860=) c.2583G>C (p.Arg861=) n.4934G>C c.4116G>C (p.Arg1372=) c.4077G>C (p.Arg1359=) c.4008G>C (p.Arg1336=) c.4065G>C (p.Arg1355=) c.4074G>C (p.Arg1358=) c.3591G>C (p.Arg1197=) c.3321G>C (p.Arg1107=) n.3985G>C n.3970G>C n.4886G>C | gnomAD v4 |
1 | g.5863911C>T | CA415786956 | NPHP4 | c.4119G>A (p.Arg1373=) n.3270G>A c.*3020G>A (n.*3020G>A) n.2867G>A n.3851G>A c.*1930G>A (n.*1930G>A) c.2580G>A (p.Arg860=) c.2583G>A (p.Arg861=) n.4934G>A c.4116G>A (p.Arg1372=) c.4077G>A (p.Arg1359=) c.4008G>A (p.Arg1336=) c.4065G>A (p.Arg1355=) c.4074G>A (p.Arg1358=) c.3591G>A (p.Arg1197=) c.3321G>A (p.Arg1107=) n.3985G>A n.3970G>A n.4886G>A | gnomAD v4 |
1 | g.5863912C>A | CA553349 | NPHP4 | c.4118G>T (p.Arg1373Leu) n.3269G>T c.*3019G>T (n.*3019G>T) n.2866G>T n.3850G>T c.*1929G>T (n.*1929G>T) c.2579G>T (p.Arg860Leu) c.2582G>T (p.Arg861Leu) n.4933G>T c.4115G>T (p.Arg1372Leu) c.4076G>T (p.Arg1359Leu) c.4007G>T (p.Arg1336Leu) c.4064G>T (p.Arg1355Leu) c.4073G>T (p.Arg1358Leu) c.3590G>T (p.Arg1197Leu) c.3320G>T (p.Arg1107Leu) n.3984G>T n.3969G>T n.4885G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863912C= | CA1151209097 | NPHP4 | c.4118G= (p.Arg1373=) n.3269G= c.*3019G= (n.*3019G=) n.2866G= n.3850G= c.*1929G= (n.*1929G=) c.2579G= (p.Arg860=) c.2582G= (p.Arg861=) n.4933G= c.4115G= (p.Arg1372=) c.4076G= (p.Arg1359=) c.4007G= (p.Arg1336=) c.4064G= (p.Arg1355=) c.4073G= (p.Arg1358=) c.3590G= (p.Arg1197=) c.3320G= (p.Arg1107=) n.3984G= n.3969G= n.4885G= | |
1 | g.5863912C>G | CA338048833 | NPHP4 | c.4118G>C (p.Arg1373Pro) n.3269G>C c.*3019G>C (n.*3019G>C) n.2866G>C n.3850G>C c.*1929G>C (n.*1929G>C) c.2579G>C (p.Arg860Pro) c.2582G>C (p.Arg861Pro) n.4933G>C c.4115G>C (p.Arg1372Pro) c.4076G>C (p.Arg1359Pro) c.4007G>C (p.Arg1336Pro) c.4064G>C (p.Arg1355Pro) c.4073G>C (p.Arg1358Pro) c.3590G>C (p.Arg1197Pro) c.3320G>C (p.Arg1107Pro) n.3984G>C n.3969G>C n.4885G>C | gnomAD v4 |
1 | g.5863912C>T | CA338048835 | NPHP4 | c.4118G>A (p.Arg1373Gln) n.3269G>A c.*3019G>A (n.*3019G>A) n.2866G>A n.3850G>A c.*1929G>A (n.*1929G>A) c.2579G>A (p.Arg860Gln) c.2582G>A (p.Arg861Gln) n.4933G>A c.4115G>A (p.Arg1372Gln) c.4076G>A (p.Arg1359Gln) c.4007G>A (p.Arg1336Gln) c.4064G>A (p.Arg1355Gln) c.4073G>A (p.Arg1358Gln) c.3590G>A (p.Arg1197Gln) c.3320G>A (p.Arg1107Gln) n.3984G>A n.3969G>A n.4885G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.5863913G>A | CA338048837 | NPHP4 | c.4117C>T (p.Arg1373Trp) n.3268C>T c.*3018C>T (n.*3018C>T) n.2865C>T n.3849C>T c.*1928C>T (n.*1928C>T) c.2578C>T (p.Arg860Trp) c.2581C>T (p.Arg861Trp) n.4932C>T c.4114C>T (p.Arg1372Trp) c.4075C>T (p.Arg1359Trp) c.4006C>T (p.Arg1336Trp) c.4063C>T (p.Arg1355Trp) c.4072C>T (p.Arg1358Trp) c.3589C>T (p.Arg1197Trp) c.3319C>T (p.Arg1107Trp) n.3983C>T n.3968C>T n.4884C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863913G>C | CA338048839 | NPHP4 | c.4117C>G (p.Arg1373Gly) n.3268C>G c.*3018C>G (n.*3018C>G) n.2865C>G n.3849C>G c.*1928C>G (n.*1928C>G) c.2578C>G (p.Arg860Gly) c.2581C>G (p.Arg861Gly) n.4932C>G c.4114C>G (p.Arg1372Gly) c.4075C>G (p.Arg1359Gly) c.4006C>G (p.Arg1336Gly) c.4063C>G (p.Arg1355Gly) c.4072C>G (p.Arg1358Gly) c.3589C>G (p.Arg1197Gly) c.3319C>G (p.Arg1107Gly) n.3983C>G n.3968C>G n.4884C>G | |
1 | g.5863913G= | CA1151209103 | NPHP4 | c.4117C= (p.Arg1373=) n.3268C= c.*3018C= (n.*3018C=) n.2865C= n.3849C= c.*1928C= (n.*1928C=) c.2578C= (p.Arg860=) c.2581C= (p.Arg861=) n.4932C= c.4114C= (p.Arg1372=) c.4075C= (p.Arg1359=) c.4006C= (p.Arg1336=) c.4063C= (p.Arg1355=) c.4072C= (p.Arg1358=) c.3589C= (p.Arg1197=) c.3319C= (p.Arg1107=) n.3983C= n.3968C= n.4884C= | |
1 | g.5863913G>T | CA415786958 | NPHP4 | c.4117C>A (p.Arg1373=) n.3268C>A c.*3018C>A (n.*3018C>A) n.2865C>A n.3849C>A c.*1928C>A (n.*1928C>A) c.2578C>A (p.Arg860=) c.2581C>A (p.Arg861=) n.4932C>A c.4114C>A (p.Arg1372=) c.4075C>A (p.Arg1359=) c.4006C>A (p.Arg1336=) c.4063C>A (p.Arg1355=) c.4072C>A (p.Arg1358=) c.3589C>A (p.Arg1197=) c.3319C>A (p.Arg1107=) n.3983C>A n.3968C>A n.4884C>A | |
1 | g.5863914C>A | CA415786959 | NPHP4 | c.4116G>T (p.Leu1372=) n.3267G>T c.*3017G>T (n.*3017G>T) n.2864G>T n.3848G>T c.*1927G>T (n.*1927G>T) c.2577G>T (p.Leu859=) c.2580G>T (p.Leu860=) n.4931G>T c.4113G>T (p.Leu1371=) c.4074G>T (p.Leu1358=) c.4005G>T (p.Leu1335=) c.4062G>T (p.Leu1354=) c.4071G>T (p.Leu1357=) c.3588G>T (p.Leu1196=) c.3318G>T (p.Leu1106=) n.3982G>T n.3967G>T n.4883G>T | |
1 | g.5863914C>G | CA415786960 | NPHP4 | c.4116G>C (p.Leu1372=) n.3267G>C c.*3017G>C (n.*3017G>C) n.2864G>C n.3848G>C c.*1927G>C (n.*1927G>C) c.2577G>C (p.Leu859=) c.2580G>C (p.Leu860=) n.4931G>C c.4113G>C (p.Leu1371=) c.4074G>C (p.Leu1358=) c.4005G>C (p.Leu1335=) c.4062G>C (p.Leu1354=) c.4071G>C (p.Leu1357=) c.3588G>C (p.Leu1196=) c.3318G>C (p.Leu1106=) n.3982G>C n.3967G>C n.4883G>C | |
1 | g.5863914C>T | CA415786961 | NPHP4 | c.4116G>A (p.Leu1372=) n.3267G>A c.*3017G>A (n.*3017G>A) n.2864G>A n.3848G>A c.*1927G>A (n.*1927G>A) c.2577G>A (p.Leu859=) c.2580G>A (p.Leu860=) n.4931G>A c.4113G>A (p.Leu1371=) c.4074G>A (p.Leu1358=) c.4005G>A (p.Leu1335=) c.4062G>A (p.Leu1354=) c.4071G>A (p.Leu1357=) c.3588G>A (p.Leu1196=) c.3318G>A (p.Leu1106=) n.3982G>A n.3967G>A n.4883G>A | gnomAD v4 |
1 | g.5863915A= | CA1151209110 | NPHP4 | c.4115T= (p.Leu1372=) n.3266T= c.*3016T= (n.*3016T=) n.2863T= n.3847T= c.*1926T= (n.*1926T=) c.2576T= (p.Leu859=) c.2579T= (p.Leu860=) n.4930T= c.4112T= (p.Leu1371=) c.4073T= (p.Leu1358=) c.4004T= (p.Leu1335=) c.4061T= (p.Leu1354=) c.4070T= (p.Leu1357=) c.3587T= (p.Leu1196=) c.3317T= (p.Leu1106=) n.3981T= n.3966T= n.4882T= | |
1 | g.5863915A>C | CA338048844 | NPHP4 | c.4115T>G (p.Leu1372Arg) n.3266T>G c.*3016T>G (n.*3016T>G) n.2863T>G n.3847T>G c.*1926T>G (n.*1926T>G) c.2576T>G (p.Leu859Arg) c.2579T>G (p.Leu860Arg) n.4930T>G c.4112T>G (p.Leu1371Arg) c.4073T>G (p.Leu1358Arg) c.4004T>G (p.Leu1335Arg) c.4061T>G (p.Leu1354Arg) c.4070T>G (p.Leu1357Arg) c.3587T>G (p.Leu1196Arg) c.3317T>G (p.Leu1106Arg) n.3981T>G n.3966T>G n.4882T>G | |
1 | g.5863915A>G | CA17124832 | NPHP4 | c.4115T>C (p.Leu1372Pro) n.3266T>C c.*3016T>C (n.*3016T>C) n.2863T>C n.3847T>C c.*1926T>C (n.*1926T>C) c.2576T>C (p.Leu859Pro) c.2579T>C (p.Leu860Pro) n.4930T>C c.4112T>C (p.Leu1371Pro) c.4073T>C (p.Leu1358Pro) c.4004T>C (p.Leu1335Pro) c.4061T>C (p.Leu1354Pro) c.4070T>C (p.Leu1357Pro) c.3587T>C (p.Leu1196Pro) c.3317T>C (p.Leu1106Pro) n.3981T>C n.3966T>C n.4882T>C | ClinVar dbSNP gnomAD v4 |
1 | g.5863915A>T | CA338048842 | NPHP4 | c.4115T>A (p.Leu1372Gln) n.3266T>A c.*3016T>A (n.*3016T>A) n.2863T>A n.3847T>A c.*1926T>A (n.*1926T>A) c.2576T>A (p.Leu859Gln) c.2579T>A (p.Leu860Gln) n.4930T>A c.4112T>A (p.Leu1371Gln) c.4073T>A (p.Leu1358Gln) c.4004T>A (p.Leu1335Gln) c.4061T>A (p.Leu1354Gln) c.4070T>A (p.Leu1357Gln) c.3587T>A (p.Leu1196Gln) c.3317T>A (p.Leu1106Gln) n.3981T>A n.3966T>A n.4882T>A | COSMIC |
1 | g.5863916G>A | CA337751 | NPHP4 | c.4114C>T (p.Leu1372=) n.3265C>T c.*3015C>T (n.*3015C>T) n.2862C>T n.3846C>T c.*1925C>T (n.*1925C>T) c.2575C>T (p.Leu859=) c.2578C>T (p.Leu860=) n.4929C>T c.4111C>T (p.Leu1371=) c.4072C>T (p.Leu1358=) c.4003C>T (p.Leu1335=) c.4060C>T (p.Leu1354=) c.4069C>T (p.Leu1357=) c.3586C>T (p.Leu1196=) c.3316C>T (p.Leu1106=) n.3980C>T n.3965C>T n.4881C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863916G>C | CA338048846 | NPHP4 | c.4114C>G (p.Leu1372Val) n.3265C>G c.*3015C>G (n.*3015C>G) n.2862C>G n.3846C>G c.*1925C>G (n.*1925C>G) c.2575C>G (p.Leu859Val) c.2578C>G (p.Leu860Val) n.4929C>G c.4111C>G (p.Leu1371Val) c.4072C>G (p.Leu1358Val) c.4003C>G (p.Leu1335Val) c.4060C>G (p.Leu1354Val) c.4069C>G (p.Leu1357Val) c.3586C>G (p.Leu1196Val) c.3316C>G (p.Leu1106Val) n.3980C>G n.3965C>G n.4881C>G | |
1 | g.5863916G= | CA1143974410 | NPHP4 | c.4114C= (p.Leu1372=) n.3265C= c.*3015C= (n.*3015C=) n.2862C= n.3846C= c.*1925C= (n.*1925C=) c.2575C= (p.Leu859=) c.2578C= (p.Leu860=) n.4929C= c.4111C= (p.Leu1371=) c.4072C= (p.Leu1358=) c.4003C= (p.Leu1335=) c.4060C= (p.Leu1354=) c.4069C= (p.Leu1357=) c.3586C= (p.Leu1196=) c.3316C= (p.Leu1106=) n.3980C= n.3965C= n.4881C= | |
1 | g.5863916G>T | CA338048848 | NPHP4 | c.4114C>A (p.Leu1372Met) n.3265C>A c.*3015C>A (n.*3015C>A) n.2862C>A n.3846C>A c.*1925C>A (n.*1925C>A) c.2575C>A (p.Leu859Met) c.2578C>A (p.Leu860Met) n.4929C>A c.4111C>A (p.Leu1371Met) c.4072C>A (p.Leu1358Met) c.4003C>A (p.Leu1335Met) c.4060C>A (p.Leu1354Met) c.4069C>A (p.Leu1357Met) c.3586C>A (p.Leu1196Met) c.3316C>A (p.Leu1106Met) n.3980C>A n.3965C>A n.4881C>A | |
1 | g.5863917C>A | CA553350 | NPHP4 | c.4113G>T (p.Leu1371=) n.3264G>T c.*3014G>T (n.*3014G>T) n.2861G>T n.3845G>T c.*1924G>T (n.*1924G>T) c.2574G>T (p.Leu858=) c.2577G>T (p.Leu859=) n.4928G>T c.4110G>T (p.Leu1370=) c.4071G>T (p.Leu1357=) c.4002G>T (p.Leu1334=) c.4059G>T (p.Leu1353=) c.4068G>T (p.Leu1356=) c.3585G>T (p.Leu1195=) c.3315G>T (p.Leu1105=) n.3979G>T n.3964G>T n.4880G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863917C= | CA1148435677 | NPHP4 | c.4113G= (p.Leu1371=) n.3264G= c.*3014G= (n.*3014G=) n.2861G= n.3845G= c.*1924G= (n.*1924G=) c.2574G= (p.Leu858=) c.2577G= (p.Leu859=) n.4928G= c.4110G= (p.Leu1370=) c.4071G= (p.Leu1357=) c.4002G= (p.Leu1334=) c.4059G= (p.Leu1353=) c.4068G= (p.Leu1356=) c.3585G= (p.Leu1195=) c.3315G= (p.Leu1105=) n.3979G= n.3964G= n.4880G= | |
1 | g.5863917C>G | CA415786962 | NPHP4 | c.4113G>C (p.Leu1371=) n.3264G>C c.*3014G>C (n.*3014G>C) n.2861G>C n.3845G>C c.*1924G>C (n.*1924G>C) c.2574G>C (p.Leu858=) c.2577G>C (p.Leu859=) n.4928G>C c.4110G>C (p.Leu1370=) c.4071G>C (p.Leu1357=) c.4002G>C (p.Leu1334=) c.4059G>C (p.Leu1353=) c.4068G>C (p.Leu1356=) c.3585G>C (p.Leu1195=) c.3315G>C (p.Leu1105=) n.3979G>C n.3964G>C n.4880G>C | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.5863917C>T | CA415786963 | NPHP4 | c.4113G>A (p.Leu1371=) n.3264G>A c.*3014G>A (n.*3014G>A) n.2861G>A n.3845G>A c.*1924G>A (n.*1924G>A) c.2574G>A (p.Leu858=) c.2577G>A (p.Leu859=) n.4928G>A c.4110G>A (p.Leu1370=) c.4071G>A (p.Leu1357=) c.4002G>A (p.Leu1334=) c.4059G>A (p.Leu1353=) c.4068G>A (p.Leu1356=) c.3585G>A (p.Leu1195=) c.3315G>A (p.Leu1105=) n.3979G>A n.3964G>A n.4880G>A | |
1 | g.5863917_5863918insGAACCCTTCAACCCGCGGTTCATTG | CA2552022047 | NPHP4 | c.4112_4113insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1372AsnfsTer33) n.3263_3264insCAATGAACCGCGGGTTGAAGGGTTC c.*3013_*3014insCAATGAACCGCGGGTTGAAGGGTTC (n.*3013_*3014insCAATGAACCGCGGGTTGAAGGGTTC) n.2860_2861insCAATGAACCGCGGGTTGAAGGGTTC n.3844_3845insCAATGAACCGCGGGTTGAAGGGTTC c.*1923_*1924insCAATGAACCGCGGGTTGAAGGGTTC (n.*1923_*1924insCAATGAACCGCGGGTTGAAGGGTTC) c.2573_2574insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu859AsnfsTer33) c.2576_2577insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu860AsnfsTer33) n.4927_4928insCAATGAACCGCGGGTTGAAGGGTTC c.4109_4110insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1371AsnfsTer33) c.4070_4071insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1358AsnfsTer33) c.4001_4002insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1335AsnfsTer33) c.4058_4059insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1354AsnfsTer33) c.4067_4068insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1357AsnfsTer33) c.3584_3585insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1196AsnfsTer33) c.3314_3315insCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1106AsnfsTer33) n.3978_3979insCAATGAACCGCGGGTTGAAGGGTTC n.3963_3964insCAATGAACCGCGGGTTGAAGGGTTC n.4879_4880insCAATGAACCGCGGGTTGAAGGGTTC | |
1 | g.5863917_5863918insGAACCCTTCAACCCGCGGTTCATTGAG | CA2532726099 | NPHP4 | c.4112_4113insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1371_Leu1372insSerMetAsnArgGlyLeuLysGlySer) n.3263_3264insCTCAATGAACCGCGGGTTGAAGGGTTC c.*3013_*3014insCTCAATGAACCGCGGGTTGAAGGGTTC (n.*3013_*3014insCTCAATGAACCGCGGGTTGAAGGGTTC) n.2860_2861insCTCAATGAACCGCGGGTTGAAGGGTTC n.3844_3845insCTCAATGAACCGCGGGTTGAAGGGTTC c.*1923_*1924insCTCAATGAACCGCGGGTTGAAGGGTTC (n.*1923_*1924insCTCAATGAACCGCGGGTTGAAGGGTTC) c.2573_2574insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu858_Leu859insSerMetAsnArgGlyLeuLysGlySer) c.2576_2577insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu859_Leu860insSerMetAsnArgGlyLeuLysGlySer) n.4927_4928insCTCAATGAACCGCGGGTTGAAGGGTTC c.4109_4110insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1370_Leu1371insSerMetAsnArgGlyLeuLysGlySer) c.4070_4071insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1357_Leu1358insSerMetAsnArgGlyLeuLysGlySer) c.4001_4002insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1334_Leu1335insSerMetAsnArgGlyLeuLysGlySer) c.4058_4059insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1353_Leu1354insSerMetAsnArgGlyLeuLysGlySer) c.4067_4068insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1356_Leu1357insSerMetAsnArgGlyLeuLysGlySer) c.3584_3585insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1195_Leu1196insSerMetAsnArgGlyLeuLysGlySer) c.3314_3315insCTCAATGAACCGCGGGTTGAAGGGTTC (p.Leu1105_Leu1106insSerMetAsnArgGlyLeuLysGlySer) n.3978_3979insCTCAATGAACCGCGGGTTGAAGGGTTC n.3963_3964insCTCAATGAACCGCGGGTTGAAGGGTTC n.4879_4880insCTCAATGAACCGCGGGTTGAAGGGTTC | |
1 | g.5863918A>C | CA338048851 | NPHP4 | c.4112T>G (p.Leu1371Arg) n.3263T>G c.*3013T>G (n.*3013T>G) n.2860T>G n.3844T>G c.*1923T>G (n.*1923T>G) c.2573T>G (p.Leu858Arg) c.2576T>G (p.Leu859Arg) n.4927T>G c.4109T>G (p.Leu1370Arg) c.4070T>G (p.Leu1357Arg) c.4001T>G (p.Leu1334Arg) c.4058T>G (p.Leu1353Arg) c.4067T>G (p.Leu1356Arg) c.3584T>G (p.Leu1195Arg) c.3314T>G (p.Leu1105Arg) n.3978T>G n.3963T>G n.4879T>G | |
1 | g.5863918A>G | CA338048853 | NPHP4 | c.4112T>C (p.Leu1371Pro) n.3263T>C c.*3013T>C (n.*3013T>C) n.2860T>C n.3844T>C c.*1923T>C (n.*1923T>C) c.2573T>C (p.Leu858Pro) c.2576T>C (p.Leu859Pro) n.4927T>C c.4109T>C (p.Leu1370Pro) c.4070T>C (p.Leu1357Pro) c.4001T>C (p.Leu1334Pro) c.4058T>C (p.Leu1353Pro) c.4067T>C (p.Leu1356Pro) c.3584T>C (p.Leu1195Pro) c.3314T>C (p.Leu1105Pro) n.3978T>C n.3963T>C n.4879T>C | |
1 | g.5863918A>T | CA338048855 | NPHP4 | c.4112T>A (p.Leu1371Gln) n.3263T>A c.*3013T>A (n.*3013T>A) n.2860T>A n.3844T>A c.*1923T>A (n.*1923T>A) c.2573T>A (p.Leu858Gln) c.2576T>A (p.Leu859Gln) n.4927T>A c.4109T>A (p.Leu1370Gln) c.4070T>A (p.Leu1357Gln) c.4001T>A (p.Leu1334Gln) c.4058T>A (p.Leu1353Gln) c.4067T>A (p.Leu1356Gln) c.3584T>A (p.Leu1195Gln) c.3314T>A (p.Leu1105Gln) n.3978T>A n.3963T>A n.4879T>A | |
1 | g.5863919G>A | CA553351 | NPHP4 | c.4111C>T (p.Leu1371=) n.3262C>T c.*3012C>T (n.*3012C>T) n.2859C>T n.3843C>T c.*1922C>T (n.*1922C>T) c.2572C>T (p.Leu858=) c.2575C>T (p.Leu859=) n.4926C>T c.4108C>T (p.Leu1370=) c.4069C>T (p.Leu1357=) c.4000C>T (p.Leu1334=) c.4057C>T (p.Leu1353=) c.4066C>T (p.Leu1356=) c.3583C>T (p.Leu1195=) c.3313C>T (p.Leu1105=) n.3977C>T n.3962C>T n.4878C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863919G>C | CA338048857 | NPHP4 | c.4111C>G (p.Leu1371Val) n.3262C>G c.*3012C>G (n.*3012C>G) n.2859C>G n.3843C>G c.*1922C>G (n.*1922C>G) c.2572C>G (p.Leu858Val) c.2575C>G (p.Leu859Val) n.4926C>G c.4108C>G (p.Leu1370Val) c.4069C>G (p.Leu1357Val) c.4000C>G (p.Leu1334Val) c.4057C>G (p.Leu1353Val) c.4066C>G (p.Leu1356Val) c.3583C>G (p.Leu1195Val) c.3313C>G (p.Leu1105Val) n.3977C>G n.3962C>G n.4878C>G | |
1 | g.5863919G= | CA1143606858 | NPHP4 | c.4111C= (p.Leu1371=) n.3262C= c.*3012C= (n.*3012C=) n.2859C= n.3843C= c.*1922C= (n.*1922C=) c.2572C= (p.Leu858=) c.2575C= (p.Leu859=) n.4926C= c.4108C= (p.Leu1370=) c.4069C= (p.Leu1357=) c.4000C= (p.Leu1334=) c.4057C= (p.Leu1353=) c.4066C= (p.Leu1356=) c.3583C= (p.Leu1195=) c.3313C= (p.Leu1105=) n.3977C= n.3962C= n.4878C= | |
1 | g.5863919G>T | CA338048858 | NPHP4 | c.4111C>A (p.Leu1371Met) n.3262C>A c.*3012C>A (n.*3012C>A) n.2859C>A n.3843C>A c.*1922C>A (n.*1922C>A) c.2572C>A (p.Leu858Met) c.2575C>A (p.Leu859Met) n.4926C>A c.4108C>A (p.Leu1370Met) c.4069C>A (p.Leu1357Met) c.4000C>A (p.Leu1334Met) c.4057C>A (p.Leu1353Met) c.4066C>A (p.Leu1356Met) c.3583C>A (p.Leu1195Met) c.3313C>A (p.Leu1105Met) n.3977C>A n.3962C>A n.4878C>A | |
1 | g.5863919_5863920insAGTGGCCGCGAAGACATTCAGCGCACCTACGACTAC | CA2537045425 | NPHP4 | c.4110_4111insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1370_Leu1371insValValValGlyAlaLeuAsnValPheAlaAlaThr) n.3261_3262insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT c.*3011_*3012insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (n.*3011_*3012insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT) n.2858_2859insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT n.3842_3843insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT c.*1921_*1922insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (n.*1921_*1922insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT) c.2571_2572insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu857_Leu858insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.2574_2575insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu858_Leu859insValValValGlyAlaLeuAsnValPheAlaAlaThr) n.4925_4926insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT c.4107_4108insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1369_Leu1370insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.4068_4069insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1356_Leu1357insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.3999_4000insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1333_Leu1334insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.4056_4057insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1352_Leu1353insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.4065_4066insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1355_Leu1356insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.3582_3583insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1194_Leu1195insValValValGlyAlaLeuAsnValPheAlaAlaThr) c.3312_3313insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT (p.Glu1104_Leu1105insValValValGlyAlaLeuAsnValPheAlaAlaThr) n.3976_3977insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT n.3961_3962insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT n.4877_4878insGTAGTCGTAGGTGCGCTGAATGTCTTCGCGGCCACT | |
1 | g.5863920C>A | CA338048860 | NPHP4 | c.4110G>T (p.Glu1370Asp) n.3261G>T c.*3011G>T (n.*3011G>T) n.2858G>T n.3842G>T c.*1921G>T (n.*1921G>T) c.2571G>T (p.Glu857Asp) c.2574G>T (p.Glu858Asp) n.4925G>T c.4107G>T (p.Glu1369Asp) c.4068G>T (p.Glu1356Asp) c.3999G>T (p.Glu1333Asp) c.4056G>T (p.Glu1352Asp) c.4065G>T (p.Glu1355Asp) c.3582G>T (p.Glu1194Asp) c.3312G>T (p.Glu1104Asp) n.3976G>T n.3961G>T n.4877G>T | |
1 | g.5863920C>G | CA338048863 | NPHP4 | c.4110G>C (p.Glu1370Asp) n.3261G>C c.*3011G>C (n.*3011G>C) n.2858G>C n.3842G>C c.*1921G>C (n.*1921G>C) c.2571G>C (p.Glu857Asp) c.2574G>C (p.Glu858Asp) n.4925G>C c.4107G>C (p.Glu1369Asp) c.4068G>C (p.Glu1356Asp) c.3999G>C (p.Glu1333Asp) c.4056G>C (p.Glu1352Asp) c.4065G>C (p.Glu1355Asp) c.3582G>C (p.Glu1194Asp) c.3312G>C (p.Glu1104Asp) n.3976G>C n.3961G>C n.4877G>C | |
1 | g.5863920C>T | CA415786964 | NPHP4 | c.4110G>A (p.Glu1370=) n.3261G>A c.*3011G>A (n.*3011G>A) n.2858G>A n.3842G>A c.*1921G>A (n.*1921G>A) c.2571G>A (p.Glu857=) c.2574G>A (p.Glu858=) n.4925G>A c.4107G>A (p.Glu1369=) c.4068G>A (p.Glu1356=) c.3999G>A (p.Glu1333=) c.4056G>A (p.Glu1352=) c.4065G>A (p.Glu1355=) c.3582G>A (p.Glu1194=) c.3312G>A (p.Glu1104=) n.3976G>A n.3961G>A n.4877G>A | |
1 | g.5863921_5863922del | CA2642901858 | NPHP4 | c.4109_4110del (p.Glu1370AlafsTer26) n.3260_3261del c.*3010_*3011del (n.*3010_*3011del) n.2857_2858del n.3841_3842del c.*1920_*1921del (n.*1920_*1921del) c.2570_2571del (p.Glu857AlafsTer26) c.2573_2574del (p.Glu858AlafsTer26) n.4924_4925del c.4106_4107del (p.Glu1369AlafsTer26) c.4067_4068del (p.Glu1356AlafsTer26) c.3998_3999del (p.Glu1333AlafsTer26) c.4055_4056del (p.Glu1352AlafsTer26) c.4064_4065del (p.Glu1355AlafsTer26) c.3581_3582del (p.Glu1194AlafsTer26) c.3311_3312del (p.Glu1104AlafsTer26) n.3975_3976del n.3960_3961del n.4876_4877del | gnomAD v4 |
1 | g.5863920_5863921insGG | CA2540869744 | NPHP4 | c.4109_4110insCC (p.Glu1370AspfsTer?) n.3260_3261insCC c.*3010_*3011insCC (n.*3010_*3011insCC) n.2857_2858insCC n.3841_3842insCC c.*1920_*1921insCC (n.*1920_*1921insCC) c.2570_2571insCC (p.Glu857AspfsTer?) c.2573_2574insCC (p.Glu858AspfsTer?) n.4924_4925insCC c.4106_4107insCC (p.Glu1369AspfsTer?) c.4067_4068insCC (p.Glu1356AspfsTer?) c.3998_3999insCC (p.Glu1333AspfsTer?) c.4055_4056insCC (p.Glu1352AspfsTer?) c.4064_4065insCC (p.Glu1355AspfsTer?) c.3581_3582insCC (p.Glu1194AspfsTer?) c.3311_3312insCC (p.Glu1104AspfsTer?) n.3975_3976insCC n.3960_3961insCC n.4876_4877insCC | |
1 | g.5863920_5863921insGGCCGCGAAGACAT | CA2515184818 | NPHP4 | c.4109_4110insATGTCTTCGCGGCC (p.Leu1371CysfsTer?) n.3260_3261insATGTCTTCGCGGCC c.*3010_*3011insATGTCTTCGCGGCC (n.*3010_*3011insATGTCTTCGCGGCC) n.2857_2858insATGTCTTCGCGGCC n.3841_3842insATGTCTTCGCGGCC c.*1920_*1921insATGTCTTCGCGGCC (n.*1920_*1921insATGTCTTCGCGGCC) c.2570_2571insATGTCTTCGCGGCC (p.Leu858CysfsTer?) c.2573_2574insATGTCTTCGCGGCC (p.Leu859CysfsTer?) n.4924_4925insATGTCTTCGCGGCC c.4106_4107insATGTCTTCGCGGCC (p.Leu1370CysfsTer?) c.4067_4068insATGTCTTCGCGGCC (p.Leu1357CysfsTer?) c.3998_3999insATGTCTTCGCGGCC (p.Leu1334CysfsTer?) c.4055_4056insATGTCTTCGCGGCC (p.Leu1353CysfsTer?) c.4064_4065insATGTCTTCGCGGCC (p.Leu1356CysfsTer?) c.3581_3582insATGTCTTCGCGGCC (p.Leu1195CysfsTer?) c.3311_3312insATGTCTTCGCGGCC (p.Leu1105CysfsTer?) n.3975_3976insATGTCTTCGCGGCC n.3960_3961insATGTCTTCGCGGCC n.4876_4877insATGTCTTCGCGGCC | |
1 | g.5863921T>A | CA338048864 | NPHP4 | c.4109A>T (p.Glu1370Val) n.3260A>T c.*3010A>T (n.*3010A>T) n.2857A>T n.3841A>T c.*1920A>T (n.*1920A>T) c.2570A>T (p.Glu857Val) c.2573A>T (p.Glu858Val) n.4924A>T c.4106A>T (p.Glu1369Val) c.4067A>T (p.Glu1356Val) c.3998A>T (p.Glu1333Val) c.4055A>T (p.Glu1352Val) c.4064A>T (p.Glu1355Val) c.3581A>T (p.Glu1194Val) c.3311A>T (p.Glu1104Val) n.3975A>T n.3960A>T n.4876A>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863921T>C | CA338048868 | NPHP4 | c.4109A>G (p.Glu1370Gly) n.3260A>G c.*3010A>G (n.*3010A>G) n.2857A>G n.3841A>G c.*1920A>G (n.*1920A>G) c.2570A>G (p.Glu857Gly) c.2573A>G (p.Glu858Gly) n.4924A>G c.4106A>G (p.Glu1369Gly) c.4067A>G (p.Glu1356Gly) c.3998A>G (p.Glu1333Gly) c.4055A>G (p.Glu1352Gly) c.4064A>G (p.Glu1355Gly) c.3581A>G (p.Glu1194Gly) c.3311A>G (p.Glu1104Gly) n.3975A>G n.3960A>G n.4876A>G | |
1 | g.5863921T>G | CA338048865 | NPHP4 | c.4109A>C (p.Glu1370Ala) n.3260A>C c.*3010A>C (n.*3010A>C) n.2857A>C n.3841A>C c.*1920A>C (n.*1920A>C) c.2570A>C (p.Glu857Ala) c.2573A>C (p.Glu858Ala) n.4924A>C c.4106A>C (p.Glu1369Ala) c.4067A>C (p.Glu1356Ala) c.3998A>C (p.Glu1333Ala) c.4055A>C (p.Glu1352Ala) c.4064A>C (p.Glu1355Ala) c.3581A>C (p.Glu1194Ala) c.3311A>C (p.Glu1104Ala) n.3975A>C n.3960A>C n.4876A>C | gnomAD v4 |
1 | g.5863921T= | CA1151209125 | NPHP4 | c.4109A= (p.Glu1370=) n.3260A= c.*3010A= (n.*3010A=) n.2857A= n.3841A= c.*1920A= (n.*1920A=) c.2570A= (p.Glu857=) c.2573A= (p.Glu858=) n.4924A= c.4106A= (p.Glu1369=) c.4067A= (p.Glu1356=) c.3998A= (p.Glu1333=) c.4055A= (p.Glu1352=) c.4064A= (p.Glu1355=) c.3581A= (p.Glu1194=) c.3311A= (p.Glu1104=) n.3975A= n.3960A= n.4876A= | |
1 | g.5863922C>A | CA338048870 | NPHP4 | c.4108G>T (p.Glu1370Ter) n.3259G>T c.*3009G>T (n.*3009G>T) n.2856G>T n.3840G>T c.*1919G>T (n.*1919G>T) c.2569G>T (p.Glu857Ter) c.2572G>T (p.Glu858Ter) n.4923G>T c.4105G>T (p.Glu1369Ter) c.4066G>T (p.Glu1356Ter) c.3997G>T (p.Glu1333Ter) c.4054G>T (p.Glu1352Ter) c.4063G>T (p.Glu1355Ter) c.3580G>T (p.Glu1194Ter) c.3310G>T (p.Glu1104Ter) n.3974G>T n.3959G>T n.4875G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863922C= | CA1151209131 | NPHP4 | c.4108G= (p.Glu1370=) n.3259G= c.*3009G= (n.*3009G=) n.2856G= n.3840G= c.*1919G= (n.*1919G=) c.2569G= (p.Glu857=) c.2572G= (p.Glu858=) n.4923G= c.4105G= (p.Glu1369=) c.4066G= (p.Glu1356=) c.3997G= (p.Glu1333=) c.4054G= (p.Glu1352=) c.4063G= (p.Glu1355=) c.3580G= (p.Glu1194=) c.3310G= (p.Glu1104=) n.3974G= n.3959G= n.4875G= | |
1 | g.5863922C>G | CA338048872 | NPHP4 | c.4108G>C (p.Glu1370Gln) n.3259G>C c.*3009G>C (n.*3009G>C) n.2856G>C n.3840G>C c.*1919G>C (n.*1919G>C) c.2569G>C (p.Glu857Gln) c.2572G>C (p.Glu858Gln) n.4923G>C c.4105G>C (p.Glu1369Gln) c.4066G>C (p.Glu1356Gln) c.3997G>C (p.Glu1333Gln) c.4054G>C (p.Glu1352Gln) c.4063G>C (p.Glu1355Gln) c.3580G>C (p.Glu1194Gln) c.3310G>C (p.Glu1104Gln) n.3974G>C n.3959G>C n.4875G>C | |
1 | g.5863922C>T | CA338048873 | NPHP4 | c.4108G>A (p.Glu1370Lys) n.3259G>A c.*3009G>A (n.*3009G>A) n.2856G>A n.3840G>A c.*1919G>A (n.*1919G>A) c.2569G>A (p.Glu857Lys) c.2572G>A (p.Glu858Lys) n.4923G>A c.4105G>A (p.Glu1369Lys) c.4066G>A (p.Glu1356Lys) c.3997G>A (p.Glu1333Lys) c.4054G>A (p.Glu1352Lys) c.4063G>A (p.Glu1355Lys) c.3580G>A (p.Glu1194Lys) c.3310G>A (p.Glu1104Lys) n.3974G>A n.3959G>A n.4875G>A | |
1 | g.5863922_5863923insGAGCACATGGAACTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACCGTGTACTGCTT | CA2570248983 | NPHP4 | c.4107_4108insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1370LysfsTer?) n.3258_3259insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC c.*3008_*3009insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (n.*3008_*3009insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC) n.2855_2856insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC n.3839_3840insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC c.*1918_*1919insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (n.*1918_*1919insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC) c.2568_2569insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu857LysfsTer?) c.2571_2572insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu858LysfsTer?) n.4922_4923insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC c.4104_4105insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1369LysfsTer?) c.4065_4066insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1356LysfsTer?) c.3996_3997insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1333LysfsTer?) c.4053_4054insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1352LysfsTer?) c.4062_4063insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1355LysfsTer?) c.3579_3580insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1194LysfsTer?) c.3309_3310insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC (p.Glu1104LysfsTer?) n.3973_3974insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC n.3958_3959insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC n.4874_4875insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTC | |
1 | g.5863922_5863923insAGCGCACCTATGACTACCTCGAGCACATGGAGCTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACTGTGTACTGCTT | CA2536038692 | NPHP4 | c.4107_4108insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1370LysfsTer23) n.3258_3259insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT c.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (n.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT) n.2855_2856insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT n.3839_3840insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT c.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (n.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT) c.2568_2569insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu857LysfsTer23) c.2571_2572insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu858LysfsTer23) n.4922_4923insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT c.4104_4105insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1369LysfsTer23) c.4065_4066insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1356LysfsTer23) c.3996_3997insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1333LysfsTer23) c.4053_4054insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1352LysfsTer23) c.4062_4063insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1355LysfsTer23) c.3579_3580insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1194LysfsTer23) c.3309_3310insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT (p.Glu1104LysfsTer23) n.3973_3974insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT n.3958_3959insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT n.4874_4875insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGCTCCATGTGCTCGAGGTAGTCATAGGTGCGCT | |
1 | g.5863922_5863923insAGCGCACCTACGACTACCTCGAGCACATGGAACTGAGCGGACTGCTTAAGCGCATCCATGAGGCTCGCACTGTGTACTGCTT | CA2511156962 | NPHP4 | c.4107_4108insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1370LysfsTer23) n.3258_3259insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT) n.2855_2856insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.3839_3840insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT) c.2568_2569insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu857LysfsTer23) c.2571_2572insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu858LysfsTer23) n.4922_4923insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.4104_4105insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1369LysfsTer23) c.4065_4066insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1356LysfsTer23) c.3996_3997insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1333LysfsTer23) c.4053_4054insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1352LysfsTer23) c.4062_4063insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1355LysfsTer23) c.3579_3580insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1194LysfsTer23) c.3309_3310insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1104LysfsTer23) n.3973_3974insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.3958_3959insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.4874_4875insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTAAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT | |
1 | g.5863922_5863923insAGCGCACCTACGACTACCTCGAGCACATGGAATTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACTGTGTACTGCTT | CA2543593564 | NPHP4 | c.4107_4108insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1370LysfsTer23) n.3258_3259insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT) n.2855_2856insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.3839_3840insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT) c.2568_2569insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu857LysfsTer23) c.2571_2572insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu858LysfsTer23) n.4922_4923insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.4104_4105insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1369LysfsTer23) c.4065_4066insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1356LysfsTer23) c.3996_3997insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1333LysfsTer23) c.4053_4054insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1352LysfsTer23) c.4062_4063insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1355LysfsTer23) c.3579_3580insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1194LysfsTer23) c.3309_3310insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1104LysfsTer23) n.3973_3974insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.3958_3959insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.4874_4875insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAATTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT | |
1 | g.5863922_5863923insAGCGCACCTACGACTACCTCGAGCACATGGAACTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACTGTGTACTGCTT | CA2561931016 | NPHP4 | c.4107_4108insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1370LysfsTer23) n.3258_3259insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*3008_*3009insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT) n.2855_2856insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.3839_3840insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (n.*1918_*1919insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT) c.2568_2569insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu857LysfsTer23) c.2571_2572insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu858LysfsTer23) n.4922_4923insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT c.4104_4105insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1369LysfsTer23) c.4065_4066insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1356LysfsTer23) c.3996_3997insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1333LysfsTer23) c.4053_4054insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1352LysfsTer23) c.4062_4063insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1355LysfsTer23) c.3579_3580insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1194LysfsTer23) c.3309_3310insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT (p.Glu1104LysfsTer23) n.3973_3974insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.3958_3959insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT n.4874_4875insAAGCAGTACACAGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTGCGCT | |
1 | g.5863922_5863923insGCGAAGATATTCAGCGTACCTACGACTACCTCGAGCACATGGAACTGAGCGGACTGCTCAAGCGCATCCATGAGGCTCGCACCGTGTACTGCTT | CA2561929802 | NPHP4 | c.4107_4108insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1370LysfsTer23) n.3258_3259insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC c.*3008_*3009insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (n.*3008_*3009insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC) n.2855_2856insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC n.3839_3840insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC c.*1918_*1919insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (n.*1918_*1919insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC) c.2568_2569insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu857LysfsTer23) c.2571_2572insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu858LysfsTer23) n.4922_4923insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC c.4104_4105insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1369LysfsTer23) c.4065_4066insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1356LysfsTer23) c.3996_3997insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1333LysfsTer23) c.4053_4054insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1352LysfsTer23) c.4062_4063insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1355LysfsTer23) c.3579_3580insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1194LysfsTer23) c.3309_3310insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC (p.Glu1104LysfsTer23) n.3973_3974insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC n.3958_3959insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC n.4874_4875insAAGCAGTACACGGTGCGAGCCTCATGGATGCGCTTGAGCAGTCCGCTCAGTTCCATGTGCTCGAGGTAGTCGTAGGTACGCTGAATATCTTCGC | |
1 | g.5863923C>A | CA415786966 | NPHP4 | c.4107G>T (p.Pro1369=) n.3258G>T c.*3008G>T (n.*3008G>T) n.2855G>T n.3839G>T c.*1918G>T (n.*1918G>T) c.2568G>T (p.Pro856=) c.2571G>T (p.Pro857=) n.4922G>T c.4104G>T (p.Pro1368=) c.4065G>T (p.Pro1355=) c.3996G>T (p.Pro1332=) c.4053G>T (p.Pro1351=) c.4062G>T (p.Pro1354=) c.3579G>T (p.Pro1193=) c.3309G>T (p.Pro1103=) n.3973G>T n.3958G>T n.4874G>T | |
1 | g.5863923C= | CA1143426023 | NPHP4 | c.4107G= (p.Pro1369=) n.3258G= c.*3008G= (n.*3008G=) n.2855G= n.3839G= c.*1918G= (n.*1918G=) c.2568G= (p.Pro856=) c.2571G= (p.Pro857=) n.4922G= c.4104G= (p.Pro1368=) c.4065G= (p.Pro1355=) c.3996G= (p.Pro1332=) c.4053G= (p.Pro1351=) c.4062G= (p.Pro1354=) c.3579G= (p.Pro1193=) c.3309G= (p.Pro1103=) n.3973G= n.3958G= n.4874G= | |
1 | g.5863923C>G | CA415786967 | NPHP4 | c.4107G>C (p.Pro1369=) n.3258G>C c.*3008G>C (n.*3008G>C) n.2855G>C n.3839G>C c.*1918G>C (n.*1918G>C) c.2568G>C (p.Pro856=) c.2571G>C (p.Pro857=) n.4922G>C c.4104G>C (p.Pro1368=) c.4065G>C (p.Pro1355=) c.3996G>C (p.Pro1332=) c.4053G>C (p.Pro1351=) c.4062G>C (p.Pro1354=) c.3579G>C (p.Pro1193=) c.3309G>C (p.Pro1103=) n.3973G>C n.3958G>C n.4874G>C | |
1 | g.5863923C>T | CA553352 | NPHP4 | c.4107G>A (p.Pro1369=) n.3258G>A c.*3008G>A (n.*3008G>A) n.2855G>A n.3839G>A c.*1918G>A (n.*1918G>A) c.2568G>A (p.Pro856=) c.2571G>A (p.Pro857=) n.4922G>A c.4104G>A (p.Pro1368=) c.4065G>A (p.Pro1355=) c.3996G>A (p.Pro1332=) c.4053G>A (p.Pro1351=) c.4062G>A (p.Pro1354=) c.3579G>A (p.Pro1193=) c.3309G>A (p.Pro1103=) n.3973G>A n.3958G>A n.4874G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863924G>A | CA553353 | NPHP4 | c.4106C>T (p.Pro1369Leu) n.3257C>T c.*3007C>T (n.*3007C>T) n.2854C>T n.3838C>T c.*1917C>T (n.*1917C>T) c.2567C>T (p.Pro856Leu) c.2570C>T (p.Pro857Leu) n.4921C>T c.4103C>T (p.Pro1368Leu) c.4064C>T (p.Pro1355Leu) c.3995C>T (p.Pro1332Leu) c.4052C>T (p.Pro1351Leu) c.4061C>T (p.Pro1354Leu) c.3578C>T (p.Pro1193Leu) c.3308C>T (p.Pro1103Leu) n.3972C>T n.3957C>T n.4873C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863924G>C | CA338048877 | NPHP4 | c.4106C>G (p.Pro1369Arg) n.3257C>G c.*3007C>G (n.*3007C>G) n.2854C>G n.3838C>G c.*1917C>G (n.*1917C>G) c.2567C>G (p.Pro856Arg) c.2570C>G (p.Pro857Arg) n.4921C>G c.4103C>G (p.Pro1368Arg) c.4064C>G (p.Pro1355Arg) c.3995C>G (p.Pro1332Arg) c.4052C>G (p.Pro1351Arg) c.4061C>G (p.Pro1354Arg) c.3578C>G (p.Pro1193Arg) c.3308C>G (p.Pro1103Arg) n.3972C>G n.3957C>G n.4873C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863924G= | CA1148296660 | NPHP4 | c.4106C= (p.Pro1369=) n.3257C= c.*3007C= (n.*3007C=) n.2854C= n.3838C= c.*1917C= (n.*1917C=) c.2567C= (p.Pro856=) c.2570C= (p.Pro857=) n.4921C= c.4103C= (p.Pro1368=) c.4064C= (p.Pro1355=) c.3995C= (p.Pro1332=) c.4052C= (p.Pro1351=) c.4061C= (p.Pro1354=) c.3578C= (p.Pro1193=) c.3308C= (p.Pro1103=) n.3972C= n.3957C= n.4873C= | |
1 | g.5863924G>T | CA338048878 | NPHP4 | c.4106C>A (p.Pro1369Gln) n.3257C>A c.*3007C>A (n.*3007C>A) n.2854C>A n.3838C>A c.*1917C>A (n.*1917C>A) c.2567C>A (p.Pro856Gln) c.2570C>A (p.Pro857Gln) n.4921C>A c.4103C>A (p.Pro1368Gln) c.4064C>A (p.Pro1355Gln) c.3995C>A (p.Pro1332Gln) c.4052C>A (p.Pro1351Gln) c.4061C>A (p.Pro1354Gln) c.3578C>A (p.Pro1193Gln) c.3308C>A (p.Pro1103Gln) n.3972C>A n.3957C>A n.4873C>A | |
1 | g.5863925G>A | CA553354 | NPHP4 | c.4105C>T (p.Pro1369Ser) n.3256C>T c.*3006C>T (n.*3006C>T) n.2853C>T n.3837C>T c.*1916C>T (n.*1916C>T) c.2566C>T (p.Pro856Ser) c.2569C>T (p.Pro857Ser) n.4920C>T c.4102C>T (p.Pro1368Ser) c.4063C>T (p.Pro1355Ser) c.3994C>T (p.Pro1332Ser) c.4051C>T (p.Pro1351Ser) c.4060C>T (p.Pro1354Ser) c.3577C>T (p.Pro1193Ser) c.3307C>T (p.Pro1103Ser) n.3971C>T n.3956C>T n.4872C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863925G>C | CA338048881 | NPHP4 | c.4105C>G (p.Pro1369Ala) n.3256C>G c.*3006C>G (n.*3006C>G) n.2853C>G n.3837C>G c.*1916C>G (n.*1916C>G) c.2566C>G (p.Pro856Ala) c.2569C>G (p.Pro857Ala) n.4920C>G c.4102C>G (p.Pro1368Ala) c.4063C>G (p.Pro1355Ala) c.3994C>G (p.Pro1332Ala) c.4051C>G (p.Pro1351Ala) c.4060C>G (p.Pro1354Ala) c.3577C>G (p.Pro1193Ala) c.3307C>G (p.Pro1103Ala) n.3971C>G n.3956C>G n.4872C>G | |
1 | g.5863925G= | CA1144142368 | NPHP4 | c.4105C= (p.Pro1369=) n.3256C= c.*3006C= (n.*3006C=) n.2853C= n.3837C= c.*1916C= (n.*1916C=) c.2566C= (p.Pro856=) c.2569C= (p.Pro857=) n.4920C= c.4102C= (p.Pro1368=) c.4063C= (p.Pro1355=) c.3994C= (p.Pro1332=) c.4051C= (p.Pro1351=) c.4060C= (p.Pro1354=) c.3577C= (p.Pro1193=) c.3307C= (p.Pro1103=) n.3971C= n.3956C= n.4872C= | |
1 | g.5863925G>T | CA338048883 | NPHP4 | c.4105C>A (p.Pro1369Thr) n.3256C>A c.*3006C>A (n.*3006C>A) n.2853C>A n.3837C>A c.*1916C>A (n.*1916C>A) c.2566C>A (p.Pro856Thr) c.2569C>A (p.Pro857Thr) n.4920C>A c.4102C>A (p.Pro1368Thr) c.4063C>A (p.Pro1355Thr) c.3994C>A (p.Pro1332Thr) c.4051C>A (p.Pro1351Thr) c.4060C>A (p.Pro1354Thr) c.3577C>A (p.Pro1193Thr) c.3307C>A (p.Pro1103Thr) n.3971C>A n.3956C>A n.4872C>A | |
1 | g.5863926G>A | CA415786973 | NPHP4 | c.4104C>T (p.His1368=) n.3255C>T c.*3005C>T (n.*3005C>T) n.2852C>T n.3836C>T c.*1915C>T (n.*1915C>T) c.2565C>T (p.His855=) c.2568C>T (p.His856=) n.4919C>T c.4101C>T (p.His1367=) c.4062C>T (p.His1354=) c.3993C>T (p.His1331=) c.4050C>T (p.His1350=) c.4059C>T (p.His1353=) c.3576C>T (p.His1192=) c.3306C>T (p.His1102=) n.3970C>T n.3955C>T n.4871C>T | |
1 | g.5863926G>C | CA338048885 | NPHP4 | c.4104C>G (p.His1368Gln) n.3255C>G c.*3005C>G (n.*3005C>G) n.2852C>G n.3836C>G c.*1915C>G (n.*1915C>G) c.2565C>G (p.His855Gln) c.2568C>G (p.His856Gln) n.4919C>G c.4101C>G (p.His1367Gln) c.4062C>G (p.His1354Gln) c.3993C>G (p.His1331Gln) c.4050C>G (p.His1350Gln) c.4059C>G (p.His1353Gln) c.3576C>G (p.His1192Gln) c.3306C>G (p.His1102Gln) n.3970C>G n.3955C>G n.4871C>G | |
1 | g.5863926G>T | CA338048887 | NPHP4 | c.4104C>A (p.His1368Gln) n.3255C>A c.*3005C>A (n.*3005C>A) n.2852C>A n.3836C>A c.*1915C>A (n.*1915C>A) c.2565C>A (p.His855Gln) c.2568C>A (p.His856Gln) n.4919C>A c.4101C>A (p.His1367Gln) c.4062C>A (p.His1354Gln) c.3993C>A (p.His1331Gln) c.4050C>A (p.His1350Gln) c.4059C>A (p.His1353Gln) c.3576C>A (p.His1192Gln) c.3306C>A (p.His1102Gln) n.3970C>A n.3955C>A n.4871C>A | |
1 | g.5863927T>A | CA338048891 | NPHP4 | c.4103A>T (p.His1368Leu) n.3254A>T c.*3004A>T (n.*3004A>T) n.2851A>T n.3835A>T c.*1914A>T (n.*1914A>T) c.2564A>T (p.His855Leu) c.2567A>T (p.His856Leu) n.4918A>T c.4100A>T (p.His1367Leu) c.4061A>T (p.His1354Leu) c.3992A>T (p.His1331Leu) c.4049A>T (p.His1350Leu) c.4058A>T (p.His1353Leu) c.3575A>T (p.His1192Leu) c.3305A>T (p.His1102Leu) n.3969A>T n.3954A>T n.4870A>T | |
1 | g.5863927T>C | CA338048889 | NPHP4 | c.4103A>G (p.His1368Arg) n.3254A>G c.*3004A>G (n.*3004A>G) n.2851A>G n.3835A>G c.*1914A>G (n.*1914A>G) c.2564A>G (p.His855Arg) c.2567A>G (p.His856Arg) n.4918A>G c.4100A>G (p.His1367Arg) c.4061A>G (p.His1354Arg) c.3992A>G (p.His1331Arg) c.4049A>G (p.His1350Arg) c.4058A>G (p.His1353Arg) c.3575A>G (p.His1192Arg) c.3305A>G (p.His1102Arg) n.3969A>G n.3954A>G n.4870A>G | gnomAD v4 |
1 | g.5863927T>G | CA338048890 | NPHP4 | c.4103A>C (p.His1368Pro) n.3254A>C c.*3004A>C (n.*3004A>C) n.2851A>C n.3835A>C c.*1914A>C (n.*1914A>C) c.2564A>C (p.His855Pro) c.2567A>C (p.His856Pro) n.4918A>C c.4100A>C (p.His1367Pro) c.4061A>C (p.His1354Pro) c.3992A>C (p.His1331Pro) c.4049A>C (p.His1350Pro) c.4058A>C (p.His1353Pro) c.3575A>C (p.His1192Pro) c.3305A>C (p.His1102Pro) n.3969A>C n.3954A>C n.4870A>C | COSMIC |
1 | g.5863928G>A | CA338048892 | NPHP4 | c.4102C>T (p.His1368Tyr) n.3253C>T c.*3003C>T (n.*3003C>T) n.2850C>T n.3834C>T c.*1913C>T (n.*1913C>T) c.2563C>T (p.His855Tyr) c.2566C>T (p.His856Tyr) n.4917C>T c.4099C>T (p.His1367Tyr) c.4060C>T (p.His1354Tyr) c.3991C>T (p.His1331Tyr) c.4048C>T (p.His1350Tyr) c.4057C>T (p.His1353Tyr) c.3574C>T (p.His1192Tyr) c.3304C>T (p.His1102Tyr) n.3968C>T n.3953C>T n.4869C>T | dbSNP |
1 | g.5863928G>C | CA338048893 | NPHP4 | c.4102C>G (p.His1368Asp) n.3253C>G c.*3003C>G (n.*3003C>G) n.2850C>G n.3834C>G c.*1913C>G (n.*1913C>G) c.2563C>G (p.His855Asp) c.2566C>G (p.His856Asp) n.4917C>G c.4099C>G (p.His1367Asp) c.4060C>G (p.His1354Asp) c.3991C>G (p.His1331Asp) c.4048C>G (p.His1350Asp) c.4057C>G (p.His1353Asp) c.3574C>G (p.His1192Asp) c.3304C>G (p.His1102Asp) n.3968C>G n.3953C>G n.4869C>G | |
1 | g.5863928G= | CA1151209142 | NPHP4 | c.4102C= (p.His1368=) n.3253C= c.*3003C= (n.*3003C=) n.2850C= n.3834C= c.*1913C= (n.*1913C=) c.2563C= (p.His855=) c.2566C= (p.His856=) n.4917C= c.4099C= (p.His1367=) c.4060C= (p.His1354=) c.3991C= (p.His1331=) c.4048C= (p.His1350=) c.4057C= (p.His1353=) c.3574C= (p.His1192=) c.3304C= (p.His1102=) n.3968C= n.3953C= n.4869C= | |
1 | g.5863928G>T | CA338048894 | NPHP4 | c.4102C>A (p.His1368Asn) n.3253C>A c.*3003C>A (n.*3003C>A) n.2850C>A n.3834C>A c.*1913C>A (n.*1913C>A) c.2563C>A (p.His855Asn) c.2566C>A (p.His856Asn) n.4917C>A c.4099C>A (p.His1367Asn) c.4060C>A (p.His1354Asn) c.3991C>A (p.His1331Asn) c.4048C>A (p.His1350Asn) c.4057C>A (p.His1353Asn) c.3574C>A (p.His1192Asn) c.3304C>A (p.His1102Asn) n.3968C>A n.3953C>A n.4869C>A | |
1 | g.5863929G>A | CA17124844 | NPHP4 | c.4101C>T (p.Asp1367=) n.3252C>T c.*3002C>T (n.*3002C>T) n.2849C>T n.3833C>T c.*1912C>T (n.*1912C>T) c.2562C>T (p.Asp854=) c.2565C>T (p.Asp855=) n.4916C>T c.4098C>T (p.Asp1366=) c.4059C>T (p.Asp1353=) c.3990C>T (p.Asp1330=) c.4047C>T (p.Asp1349=) c.4056C>T (p.Asp1352=) c.3573C>T (p.Asp1191=) c.3303C>T (p.Asp1101=) n.3967C>T n.3952C>T n.4868C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863929G>C | CA338048895 | NPHP4 | c.4101C>G (p.Asp1367Glu) n.3252C>G c.*3002C>G (n.*3002C>G) n.2849C>G n.3833C>G c.*1912C>G (n.*1912C>G) c.2562C>G (p.Asp854Glu) c.2565C>G (p.Asp855Glu) n.4916C>G c.4098C>G (p.Asp1366Glu) c.4059C>G (p.Asp1353Glu) c.3990C>G (p.Asp1330Glu) c.4047C>G (p.Asp1349Glu) c.4056C>G (p.Asp1352Glu) c.3573C>G (p.Asp1191Glu) c.3303C>G (p.Asp1101Glu) n.3967C>G n.3952C>G n.4868C>G | |
1 | g.5863929G= | CA1151209145 | NPHP4 | c.4101C= (p.Asp1367=) n.3252C= c.*3002C= (n.*3002C=) n.2849C= n.3833C= c.*1912C= (n.*1912C=) c.2562C= (p.Asp854=) c.2565C= (p.Asp855=) n.4916C= c.4098C= (p.Asp1366=) c.4059C= (p.Asp1353=) c.3990C= (p.Asp1330=) c.4047C= (p.Asp1349=) c.4056C= (p.Asp1352=) c.3573C= (p.Asp1191=) c.3303C= (p.Asp1101=) n.3967C= n.3952C= n.4868C= | |
1 | g.5863929G>T | CA338048896 | NPHP4 | c.4101C>A (p.Asp1367Glu) n.3252C>A c.*3002C>A (n.*3002C>A) n.2849C>A n.3833C>A c.*1912C>A (n.*1912C>A) c.2562C>A (p.Asp854Glu) c.2565C>A (p.Asp855Glu) n.4916C>A c.4098C>A (p.Asp1366Glu) c.4059C>A (p.Asp1353Glu) c.3990C>A (p.Asp1330Glu) c.4047C>A (p.Asp1349Glu) c.4056C>A (p.Asp1352Glu) c.3573C>A (p.Asp1191Glu) c.3303C>A (p.Asp1101Glu) n.3967C>A n.3952C>A n.4868C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863930T>A | CA338048898 | NPHP4 | c.4100A>T (p.Asp1367Val) n.3251A>T c.*3001A>T (n.*3001A>T) n.2848A>T n.3832A>T c.*1911A>T (n.*1911A>T) c.2561A>T (p.Asp854Val) c.2564A>T (p.Asp855Val) n.4915A>T c.4097A>T (p.Asp1366Val) c.4058A>T (p.Asp1353Val) c.3989A>T (p.Asp1330Val) c.4046A>T (p.Asp1349Val) c.4055A>T (p.Asp1352Val) c.3572A>T (p.Asp1191Val) c.3302A>T (p.Asp1101Val) n.3966A>T n.3951A>T n.4867A>T | |
1 | g.5863930T>C | CA338048899 | NPHP4 | c.4100A>G (p.Asp1367Gly) n.3251A>G c.*3001A>G (n.*3001A>G) n.2848A>G n.3832A>G c.*1911A>G (n.*1911A>G) c.2561A>G (p.Asp854Gly) c.2564A>G (p.Asp855Gly) n.4915A>G c.4097A>G (p.Asp1366Gly) c.4058A>G (p.Asp1353Gly) c.3989A>G (p.Asp1330Gly) c.4046A>G (p.Asp1349Gly) c.4055A>G (p.Asp1352Gly) c.3572A>G (p.Asp1191Gly) c.3302A>G (p.Asp1101Gly) n.3966A>G n.3951A>G n.4867A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863930T>G | CA338048901 | NPHP4 | c.4100A>C (p.Asp1367Ala) n.3251A>C c.*3001A>C (n.*3001A>C) n.2848A>C n.3832A>C c.*1911A>C (n.*1911A>C) c.2561A>C (p.Asp854Ala) c.2564A>C (p.Asp855Ala) n.4915A>C c.4097A>C (p.Asp1366Ala) c.4058A>C (p.Asp1353Ala) c.3989A>C (p.Asp1330Ala) c.4046A>C (p.Asp1349Ala) c.4055A>C (p.Asp1352Ala) c.3572A>C (p.Asp1191Ala) c.3302A>C (p.Asp1101Ala) n.3966A>C n.3951A>C n.4867A>C | |
1 | g.5863930T= | CA1151209151 | NPHP4 | c.4100A= (p.Asp1367=) n.3251A= c.*3001A= (n.*3001A=) n.2848A= n.3832A= c.*1911A= (n.*1911A=) c.2561A= (p.Asp854=) c.2564A= (p.Asp855=) n.4915A= c.4097A= (p.Asp1366=) c.4058A= (p.Asp1353=) c.3989A= (p.Asp1330=) c.4046A= (p.Asp1349=) c.4055A= (p.Asp1352=) c.3572A= (p.Asp1191=) c.3302A= (p.Asp1101=) n.3966A= n.3951A= n.4867A= | |
1 | g.5863931C>A | CA338048904 | NPHP4 | c.4099G>T (p.Asp1367Tyr) n.3250G>T c.*3000G>T (n.*3000G>T) n.2847G>T n.3831G>T c.*1910G>T (n.*1910G>T) c.2560G>T (p.Asp854Tyr) c.2563G>T (p.Asp855Tyr) n.4914G>T c.4096G>T (p.Asp1366Tyr) c.4057G>T (p.Asp1353Tyr) c.3988G>T (p.Asp1330Tyr) c.4045G>T (p.Asp1349Tyr) c.4054G>T (p.Asp1352Tyr) c.3571G>T (p.Asp1191Tyr) c.3301G>T (p.Asp1101Tyr) n.3965G>T n.3950G>T n.4866G>T | |
1 | g.5863931C= | CA1143543632 | NPHP4 | c.4099G= (p.Asp1367=) n.3250G= c.*3000G= (n.*3000G=) n.2847G= n.3831G= c.*1910G= (n.*1910G=) c.2560G= (p.Asp854=) c.2563G= (p.Asp855=) n.4914G= c.4096G= (p.Asp1366=) c.4057G= (p.Asp1353=) c.3988G= (p.Asp1330=) c.4045G= (p.Asp1349=) c.4054G= (p.Asp1352=) c.3571G= (p.Asp1191=) c.3301G= (p.Asp1101=) n.3965G= n.3950G= n.4866G= | |
1 | g.5863931C>G | CA338048905 | NPHP4 | c.4099G>C (p.Asp1367His) n.3250G>C c.*3000G>C (n.*3000G>C) n.2847G>C n.3831G>C c.*1910G>C (n.*1910G>C) c.2560G>C (p.Asp854His) c.2563G>C (p.Asp855His) n.4914G>C c.4096G>C (p.Asp1366His) c.4057G>C (p.Asp1353His) c.3988G>C (p.Asp1330His) c.4045G>C (p.Asp1349His) c.4054G>C (p.Asp1352His) c.3571G>C (p.Asp1191His) c.3301G>C (p.Asp1101His) n.3965G>C n.3950G>C n.4866G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863931C>T | CA553355 | NPHP4 | c.4099G>A (p.Asp1367Asn) n.3250G>A c.*3000G>A (n.*3000G>A) n.2847G>A n.3831G>A c.*1910G>A (n.*1910G>A) c.2560G>A (p.Asp854Asn) c.2563G>A (p.Asp855Asn) n.4914G>A c.4096G>A (p.Asp1366Asn) c.4057G>A (p.Asp1353Asn) c.3988G>A (p.Asp1330Asn) c.4045G>A (p.Asp1349Asn) c.4054G>A (p.Asp1352Asn) c.3571G>A (p.Asp1191Asn) c.3301G>A (p.Asp1101Asn) n.3965G>A n.3950G>A n.4866G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863932G>A | CA17124846 | NPHP4 | c.4098C>T (p.Ser1366=) n.3249C>T c.*2999C>T (n.*2999C>T) n.2846C>T n.3830C>T c.*1909C>T (n.*1909C>T) c.2559C>T (p.Ser853=) c.2562C>T (p.Ser854=) n.4913C>T c.4095C>T (p.Ser1365=) c.4056C>T (p.Ser1352=) c.3987C>T (p.Ser1329=) c.4044C>T (p.Ser1348=) c.4053C>T (p.Ser1351=) c.3570C>T (p.Ser1190=) c.3300C>T (p.Ser1100=) n.3964C>T n.3949C>T n.4865C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863932G>C | CA338048910 | NPHP4 | c.4098C>G (p.Ser1366Arg) n.3249C>G c.*2999C>G (n.*2999C>G) n.2846C>G n.3830C>G c.*1909C>G (n.*1909C>G) c.2559C>G (p.Ser853Arg) c.2562C>G (p.Ser854Arg) n.4913C>G c.4095C>G (p.Ser1365Arg) c.4056C>G (p.Ser1352Arg) c.3987C>G (p.Ser1329Arg) c.4044C>G (p.Ser1348Arg) c.4053C>G (p.Ser1351Arg) c.3570C>G (p.Ser1190Arg) c.3300C>G (p.Ser1100Arg) n.3964C>G n.3949C>G n.4865C>G | |
1 | g.5863932G= | CA1143821227 | NPHP4 | c.4098C= (p.Ser1366=) n.3249C= c.*2999C= (n.*2999C=) n.2846C= n.3830C= c.*1909C= (n.*1909C=) c.2559C= (p.Ser853=) c.2562C= (p.Ser854=) n.4913C= c.4095C= (p.Ser1365=) c.4056C= (p.Ser1352=) c.3987C= (p.Ser1329=) c.4044C= (p.Ser1348=) c.4053C= (p.Ser1351=) c.3570C= (p.Ser1190=) c.3300C= (p.Ser1100=) n.3964C= n.3949C= n.4865C= | |
1 | g.5863932G>T | CA338048908 | NPHP4 | c.4098C>A (p.Ser1366Arg) n.3249C>A c.*2999C>A (n.*2999C>A) n.2846C>A n.3830C>A c.*1909C>A (n.*1909C>A) c.2559C>A (p.Ser853Arg) c.2562C>A (p.Ser854Arg) n.4913C>A c.4095C>A (p.Ser1365Arg) c.4056C>A (p.Ser1352Arg) c.3987C>A (p.Ser1329Arg) c.4044C>A (p.Ser1348Arg) c.4053C>A (p.Ser1351Arg) c.3570C>A (p.Ser1190Arg) c.3300C>A (p.Ser1100Arg) n.3964C>A n.3949C>A n.4865C>A | gnomAD v4 |
1 | g.5863933C>A | CA338048915 | NPHP4 | c.4097G>T (p.Ser1366Ile) n.3248G>T c.*2998G>T (n.*2998G>T) n.2845G>T n.3829G>T c.*1908G>T (n.*1908G>T) c.2558G>T (p.Ser853Ile) c.2561G>T (p.Ser854Ile) n.4912G>T c.4094G>T (p.Ser1365Ile) c.4055G>T (p.Ser1352Ile) c.3986G>T (p.Ser1329Ile) c.4043G>T (p.Ser1348Ile) c.4052G>T (p.Ser1351Ile) c.3569G>T (p.Ser1190Ile) c.3299G>T (p.Ser1100Ile) n.3963G>T n.3948G>T n.4864G>T | |
1 | g.5863933C>G | CA338048911 | NPHP4 | c.4097G>C (p.Ser1366Thr) n.3248G>C c.*2998G>C (n.*2998G>C) n.2845G>C n.3829G>C c.*1908G>C (n.*1908G>C) c.2558G>C (p.Ser853Thr) c.2561G>C (p.Ser854Thr) n.4912G>C c.4094G>C (p.Ser1365Thr) c.4055G>C (p.Ser1352Thr) c.3986G>C (p.Ser1329Thr) c.4043G>C (p.Ser1348Thr) c.4052G>C (p.Ser1351Thr) c.3569G>C (p.Ser1190Thr) c.3299G>C (p.Ser1100Thr) n.3963G>C n.3948G>C n.4864G>C | |
1 | g.5863933C>T | CA338048913 | NPHP4 | c.4097G>A (p.Ser1366Asn) n.3248G>A c.*2998G>A (n.*2998G>A) n.2845G>A n.3829G>A c.*1908G>A (n.*1908G>A) c.2558G>A (p.Ser853Asn) c.2561G>A (p.Ser854Asn) n.4912G>A c.4094G>A (p.Ser1365Asn) c.4055G>A (p.Ser1352Asn) c.3986G>A (p.Ser1329Asn) c.4043G>A (p.Ser1348Asn) c.4052G>A (p.Ser1351Asn) c.3569G>A (p.Ser1190Asn) c.3299G>A (p.Ser1100Asn) n.3963G>A n.3948G>A n.4864G>A | |
1 | g.5863934T>A | CA338048917 | NPHP4 | c.4096A>T (p.Ser1366Cys) n.3247A>T c.*2997A>T (n.*2997A>T) n.2844A>T n.3828A>T c.*1907A>T (n.*1907A>T) c.2557A>T (p.Ser853Cys) c.2560A>T (p.Ser854Cys) n.4911A>T c.4093A>T (p.Ser1365Cys) c.4054A>T (p.Ser1352Cys) c.3985A>T (p.Ser1329Cys) c.4042A>T (p.Ser1348Cys) c.4051A>T (p.Ser1351Cys) c.3568A>T (p.Ser1190Cys) c.3298A>T (p.Ser1100Cys) n.3962A>T n.3947A>T n.4863A>T | COSMIC |
1 | g.5863934T>C | CA338048919 | NPHP4 | c.4096A>G (p.Ser1366Gly) n.3247A>G c.*2997A>G (n.*2997A>G) n.2844A>G n.3828A>G c.*1907A>G (n.*1907A>G) c.2557A>G (p.Ser853Gly) c.2560A>G (p.Ser854Gly) n.4911A>G c.4093A>G (p.Ser1365Gly) c.4054A>G (p.Ser1352Gly) c.3985A>G (p.Ser1329Gly) c.4042A>G (p.Ser1348Gly) c.4051A>G (p.Ser1351Gly) c.3568A>G (p.Ser1190Gly) c.3298A>G (p.Ser1100Gly) n.3962A>G n.3947A>G n.4863A>G | |
1 | g.5863934T>G | CA338048920 | NPHP4 | c.4096A>C (p.Ser1366Arg) n.3247A>C c.*2997A>C (n.*2997A>C) n.2844A>C n.3828A>C c.*1907A>C (n.*1907A>C) c.2557A>C (p.Ser853Arg) c.2560A>C (p.Ser854Arg) n.4911A>C c.4093A>C (p.Ser1365Arg) c.4054A>C (p.Ser1352Arg) c.3985A>C (p.Ser1329Arg) c.4042A>C (p.Ser1348Arg) c.4051A>C (p.Ser1351Arg) c.3568A>C (p.Ser1190Arg) c.3298A>C (p.Ser1100Arg) n.3962A>C n.3947A>C n.4863A>C | |
1 | g.5863935G>A | CA415786978 | NPHP4 | c.4095C>T (p.His1365=) n.3246C>T c.*2996C>T (n.*2996C>T) n.2843C>T n.3827C>T c.*1906C>T (n.*1906C>T) c.2556C>T (p.His852=) c.2559C>T (p.His853=) n.4910C>T c.4092C>T (p.His1364=) c.4053C>T (p.His1351=) c.3984C>T (p.His1328=) c.4041C>T (p.His1347=) c.4050C>T (p.His1350=) c.3567C>T (p.His1189=) c.3297C>T (p.His1099=) n.3961C>T n.3946C>T n.4862C>T | |
1 | g.5863935G>C | CA553356 | NPHP4 | c.4095C>G (p.His1365Gln) n.3246C>G c.*2996C>G (n.*2996C>G) n.2843C>G n.3827C>G c.*1906C>G (n.*1906C>G) c.2556C>G (p.His852Gln) c.2559C>G (p.His853Gln) n.4910C>G c.4092C>G (p.His1364Gln) c.4053C>G (p.His1351Gln) c.3984C>G (p.His1328Gln) c.4041C>G (p.His1347Gln) c.4050C>G (p.His1350Gln) c.3567C>G (p.His1189Gln) c.3297C>G (p.His1099Gln) n.3961C>G n.3946C>G n.4862C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863935G= | CA1151209154 | NPHP4 | c.4095C= (p.His1365=) n.3246C= c.*2996C= (n.*2996C=) n.2843C= n.3827C= c.*1906C= (n.*1906C=) c.2556C= (p.His852=) c.2559C= (p.His853=) n.4910C= c.4092C= (p.His1364=) c.4053C= (p.His1351=) c.3984C= (p.His1328=) c.4041C= (p.His1347=) c.4050C= (p.His1350=) c.3567C= (p.His1189=) c.3297C= (p.His1099=) n.3961C= n.3946C= n.4862C= | |
1 | g.5863935G>T | CA338048922 | NPHP4 | c.4095C>A (p.His1365Gln) n.3246C>A c.*2996C>A (n.*2996C>A) n.2843C>A n.3827C>A c.*1906C>A (n.*1906C>A) c.2556C>A (p.His852Gln) c.2559C>A (p.His853Gln) n.4910C>A c.4092C>A (p.His1364Gln) c.4053C>A (p.His1351Gln) c.3984C>A (p.His1328Gln) c.4041C>A (p.His1347Gln) c.4050C>A (p.His1350Gln) c.3567C>A (p.His1189Gln) c.3297C>A (p.His1099Gln) n.3961C>A n.3946C>A n.4862C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.5863936T>A | CA338048924 | NPHP4 | c.4094A>T (p.His1365Leu) n.3245A>T c.*2995A>T (n.*2995A>T) n.2842A>T n.3826A>T c.*1905A>T (n.*1905A>T) c.2555A>T (p.His852Leu) c.2558A>T (p.His853Leu) n.4909A>T c.4091A>T (p.His1364Leu) c.4052A>T (p.His1351Leu) c.3983A>T (p.His1328Leu) c.4040A>T (p.His1347Leu) c.4049A>T (p.His1350Leu) c.3566A>T (p.His1189Leu) c.3296A>T (p.His1099Leu) n.3960A>T n.3945A>T n.4861A>T | |
1 | g.5863936T>C | CA338048927 | NPHP4 | c.4094A>G (p.His1365Arg) n.3245A>G c.*2995A>G (n.*2995A>G) n.2842A>G n.3826A>G c.*1905A>G (n.*1905A>G) c.2555A>G (p.His852Arg) c.2558A>G (p.His853Arg) n.4909A>G c.4091A>G (p.His1364Arg) c.4052A>G (p.His1351Arg) c.3983A>G (p.His1328Arg) c.4040A>G (p.His1347Arg) c.4049A>G (p.His1350Arg) c.3566A>G (p.His1189Arg) c.3296A>G (p.His1099Arg) n.3960A>G n.3945A>G n.4861A>G | gnomAD v4 |
1 | g.5863936T>G | CA338048925 | NPHP4 | c.4094A>C (p.His1365Pro) n.3245A>C c.*2995A>C (n.*2995A>C) n.2842A>C n.3826A>C c.*1905A>C (n.*1905A>C) c.2555A>C (p.His852Pro) c.2558A>C (p.His853Pro) n.4909A>C c.4091A>C (p.His1364Pro) c.4052A>C (p.His1351Pro) c.3983A>C (p.His1328Pro) c.4040A>C (p.His1347Pro) c.4049A>C (p.His1350Pro) c.3566A>C (p.His1189Pro) c.3296A>C (p.His1099Pro) n.3960A>C n.3945A>C n.4861A>C | |
1 | g.5863937G>A | CA338048928 | NPHP4 | c.4093C>T (p.His1365Tyr) n.3244C>T c.*2994C>T (n.*2994C>T) n.2841C>T n.3825C>T c.*1904C>T (n.*1904C>T) c.2554C>T (p.His852Tyr) c.2557C>T (p.His853Tyr) n.4908C>T c.4090C>T (p.His1364Tyr) c.4051C>T (p.His1351Tyr) c.3982C>T (p.His1328Tyr) c.4039C>T (p.His1347Tyr) c.4048C>T (p.His1350Tyr) c.3565C>T (p.His1189Tyr) c.3295C>T (p.His1099Tyr) n.3959C>T n.3944C>T n.4860C>T | ClinVar dbSNP |
1 | g.5863937G>C | CA338048930 | NPHP4 | c.4093C>G (p.His1365Asp) n.3244C>G c.*2994C>G (n.*2994C>G) n.2841C>G n.3825C>G c.*1904C>G (n.*1904C>G) c.2554C>G (p.His852Asp) c.2557C>G (p.His853Asp) n.4908C>G c.4090C>G (p.His1364Asp) c.4051C>G (p.His1351Asp) c.3982C>G (p.His1328Asp) c.4039C>G (p.His1347Asp) c.4048C>G (p.His1350Asp) c.3565C>G (p.His1189Asp) c.3295C>G (p.His1099Asp) n.3959C>G n.3944C>G n.4860C>G | |
1 | g.5863937G>T | CA338048932 | NPHP4 | c.4093C>A (p.His1365Asn) n.3244C>A c.*2994C>A (n.*2994C>A) n.2841C>A n.3825C>A c.*1904C>A (n.*1904C>A) c.2554C>A (p.His852Asn) c.2557C>A (p.His853Asn) n.4908C>A c.4090C>A (p.His1364Asn) c.4051C>A (p.His1351Asn) c.3982C>A (p.His1328Asn) c.4039C>A (p.His1347Asn) c.4048C>A (p.His1350Asn) c.3565C>A (p.His1189Asn) c.3295C>A (p.His1099Asn) n.3959C>A n.3944C>A n.4860C>A | |
1 | g.5863938C>A | CA415786991 | NPHP4 | c.4092G>T (p.Leu1364=) n.3243G>T c.*2993G>T (n.*2993G>T) n.2840G>T n.3824G>T c.*1903G>T (n.*1903G>T) c.2553G>T (p.Leu851=) c.2556G>T (p.Leu852=) n.4907G>T c.4089G>T (p.Leu1363=) c.4050G>T (p.Leu1350=) c.3981G>T (p.Leu1327=) c.4038G>T (p.Leu1346=) c.4047G>T (p.Leu1349=) c.3564G>T (p.Leu1188=) c.3294G>T (p.Leu1098=) n.3958G>T n.3943G>T n.4859G>T | |
1 | g.5863938C= | CA1144101880 | NPHP4 | c.4092G= (p.Leu1364=) n.3243G= c.*2993G= (n.*2993G=) n.2840G= n.3824G= c.*1903G= (n.*1903G=) c.2553G= (p.Leu851=) c.2556G= (p.Leu852=) n.4907G= c.4089G= (p.Leu1363=) c.4050G= (p.Leu1350=) c.3981G= (p.Leu1327=) c.4038G= (p.Leu1346=) c.4047G= (p.Leu1349=) c.3564G= (p.Leu1188=) c.3294G= (p.Leu1098=) n.3958G= n.3943G= n.4859G= | |
1 | g.5863938C>G | CA415786992 | NPHP4 | c.4092G>C (p.Leu1364=) n.3243G>C c.*2993G>C (n.*2993G>C) n.2840G>C n.3824G>C c.*1903G>C (n.*1903G>C) c.2553G>C (p.Leu851=) c.2556G>C (p.Leu852=) n.4907G>C c.4089G>C (p.Leu1363=) c.4050G>C (p.Leu1350=) c.3981G>C (p.Leu1327=) c.4038G>C (p.Leu1346=) c.4047G>C (p.Leu1349=) c.3564G>C (p.Leu1188=) c.3294G>C (p.Leu1098=) n.3958G>C n.3943G>C n.4859G>C | ClinVar |
1 | g.5863938C>T | CA553357 | NPHP4 | c.4092G>A (p.Leu1364=) n.3243G>A c.*2993G>A (n.*2993G>A) n.2840G>A n.3824G>A c.*1903G>A (n.*1903G>A) c.2553G>A (p.Leu851=) c.2556G>A (p.Leu852=) n.4907G>A c.4089G>A (p.Leu1363=) c.4050G>A (p.Leu1350=) c.3981G>A (p.Leu1327=) c.4038G>A (p.Leu1346=) c.4047G>A (p.Leu1349=) c.3564G>A (p.Leu1188=) c.3294G>A (p.Leu1098=) n.3958G>A n.3943G>A n.4859G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863939A= | CA1151209162 | NPHP4 | c.4091T= (p.Leu1364=) n.3242T= c.*2992T= (n.*2992T=) n.2839T= n.3823T= c.*1902T= (n.*1902T=) c.2552T= (p.Leu851=) c.2555T= (p.Leu852=) n.4906T= c.4088T= (p.Leu1363=) c.4049T= (p.Leu1350=) c.3980T= (p.Leu1327=) c.4037T= (p.Leu1346=) c.4046T= (p.Leu1349=) c.3563T= (p.Leu1188=) c.3293T= (p.Leu1098=) n.3957T= n.3942T= n.4858T= | |
1 | g.5863939A>C | CA338048934 | NPHP4 | c.4091T>G (p.Leu1364Arg) n.3242T>G c.*2992T>G (n.*2992T>G) n.2839T>G n.3823T>G c.*1902T>G (n.*1902T>G) c.2552T>G (p.Leu851Arg) c.2555T>G (p.Leu852Arg) n.4906T>G c.4088T>G (p.Leu1363Arg) c.4049T>G (p.Leu1350Arg) c.3980T>G (p.Leu1327Arg) c.4037T>G (p.Leu1346Arg) c.4046T>G (p.Leu1349Arg) c.3563T>G (p.Leu1188Arg) c.3293T>G (p.Leu1098Arg) n.3957T>G n.3942T>G n.4858T>G | |
1 | g.5863939A>G | CA553358 | NPHP4 | c.4091T>C (p.Leu1364Pro) n.3242T>C c.*2992T>C (n.*2992T>C) n.2839T>C n.3823T>C c.*1902T>C (n.*1902T>C) c.2552T>C (p.Leu851Pro) c.2555T>C (p.Leu852Pro) n.4906T>C c.4088T>C (p.Leu1363Pro) c.4049T>C (p.Leu1350Pro) c.3980T>C (p.Leu1327Pro) c.4037T>C (p.Leu1346Pro) c.4046T>C (p.Leu1349Pro) c.3563T>C (p.Leu1188Pro) c.3293T>C (p.Leu1098Pro) n.3957T>C n.3942T>C n.4858T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863939A>T | CA338048935 | NPHP4 | c.4091T>A (p.Leu1364Gln) n.3242T>A c.*2992T>A (n.*2992T>A) n.2839T>A n.3823T>A c.*1902T>A (n.*1902T>A) c.2552T>A (p.Leu851Gln) c.2555T>A (p.Leu852Gln) n.4906T>A c.4088T>A (p.Leu1363Gln) c.4049T>A (p.Leu1350Gln) c.3980T>A (p.Leu1327Gln) c.4037T>A (p.Leu1346Gln) c.4046T>A (p.Leu1349Gln) c.3563T>A (p.Leu1188Gln) c.3293T>A (p.Leu1098Gln) n.3957T>A n.3942T>A n.4858T>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863940G>A | CA415786993 | NPHP4 | c.4090C>T (p.Leu1364=) n.3241C>T c.*2991C>T (n.*2991C>T) n.2838C>T n.3822C>T c.*1901C>T (n.*1901C>T) c.2551C>T (p.Leu851=) c.2554C>T (p.Leu852=) n.4905C>T c.4087C>T (p.Leu1363=) c.4048C>T (p.Leu1350=) c.3979C>T (p.Leu1327=) c.4036C>T (p.Leu1346=) c.4045C>T (p.Leu1349=) c.3562C>T (p.Leu1188=) c.3292C>T (p.Leu1098=) n.3956C>T n.3941C>T n.4857C>T | |
1 | g.5863940G>C | CA338048938 | NPHP4 | c.4090C>G (p.Leu1364Val) n.3241C>G c.*2991C>G (n.*2991C>G) n.2838C>G n.3822C>G c.*1901C>G (n.*1901C>G) c.2551C>G (p.Leu851Val) c.2554C>G (p.Leu852Val) n.4905C>G c.4087C>G (p.Leu1363Val) c.4048C>G (p.Leu1350Val) c.3979C>G (p.Leu1327Val) c.4036C>G (p.Leu1346Val) c.4045C>G (p.Leu1349Val) c.3562C>G (p.Leu1188Val) c.3292C>G (p.Leu1098Val) n.3956C>G n.3941C>G n.4857C>G | |
1 | g.5863940G>T | CA338048939 | NPHP4 | c.4090C>A (p.Leu1364Met) n.3241C>A c.*2991C>A (n.*2991C>A) n.2838C>A n.3822C>A c.*1901C>A (n.*1901C>A) c.2551C>A (p.Leu851Met) c.2554C>A (p.Leu852Met) n.4905C>A c.4087C>A (p.Leu1363Met) c.4048C>A (p.Leu1350Met) c.3979C>A (p.Leu1327Met) c.4036C>A (p.Leu1346Met) c.4045C>A (p.Leu1349Met) c.3562C>A (p.Leu1188Met) c.3292C>A (p.Leu1098Met) n.3956C>A n.3941C>A n.4857C>A | COSMIC |
1 | g.5863941G>A | CA553359 | NPHP4 | c.4089C>T (p.His1363=) n.3240C>T c.*2990C>T (n.*2990C>T) n.2837C>T n.3821C>T c.*1900C>T (n.*1900C>T) c.2550C>T (p.His850=) c.2553C>T (p.His851=) n.4904C>T c.4086C>T (p.His1362=) c.4047C>T (p.His1349=) c.3978C>T (p.His1326=) c.4035C>T (p.His1345=) c.4044C>T (p.His1348=) c.3561C>T (p.His1187=) c.3291C>T (p.His1097=) n.3955C>T n.3940C>T n.4856C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863941G>C | CA338048942 | NPHP4 | c.4089C>G (p.His1363Gln) n.3240C>G c.*2990C>G (n.*2990C>G) n.2837C>G n.3821C>G c.*1900C>G (n.*1900C>G) c.2550C>G (p.His850Gln) c.2553C>G (p.His851Gln) n.4904C>G c.4086C>G (p.His1362Gln) c.4047C>G (p.His1349Gln) c.3978C>G (p.His1326Gln) c.4035C>G (p.His1345Gln) c.4044C>G (p.His1348Gln) c.3561C>G (p.His1187Gln) c.3291C>G (p.His1097Gln) n.3955C>G n.3940C>G n.4856C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863941G= | CA1151209165 | NPHP4 | c.4089C= (p.His1363=) n.3240C= c.*2990C= (n.*2990C=) n.2837C= n.3821C= c.*1900C= (n.*1900C=) c.2550C= (p.His850=) c.2553C= (p.His851=) n.4904C= c.4086C= (p.His1362=) c.4047C= (p.His1349=) c.3978C= (p.His1326=) c.4035C= (p.His1345=) c.4044C= (p.His1348=) c.3561C= (p.His1187=) c.3291C= (p.His1097=) n.3955C= n.3940C= n.4856C= | |
1 | g.5863941G>T | CA338048944 | NPHP4 | c.4089C>A (p.His1363Gln) n.3240C>A c.*2990C>A (n.*2990C>A) n.2837C>A n.3821C>A c.*1900C>A (n.*1900C>A) c.2550C>A (p.His850Gln) c.2553C>A (p.His851Gln) n.4904C>A c.4086C>A (p.His1362Gln) c.4047C>A (p.His1349Gln) c.3978C>A (p.His1326Gln) c.4035C>A (p.His1345Gln) c.4044C>A (p.His1348Gln) c.3561C>A (p.His1187Gln) c.3291C>A (p.His1097Gln) n.3955C>A n.3940C>A n.4856C>A | |
1 | g.5863942T>A | CA338048945 | NPHP4 | c.4088A>T (p.His1363Leu) n.3239A>T c.*2989A>T (n.*2989A>T) n.2836A>T n.3820A>T c.*1899A>T (n.*1899A>T) c.2549A>T (p.His850Leu) c.2552A>T (p.His851Leu) n.4903A>T c.4085A>T (p.His1362Leu) c.4046A>T (p.His1349Leu) c.3977A>T (p.His1326Leu) c.4034A>T (p.His1345Leu) c.4043A>T (p.His1348Leu) c.3560A>T (p.His1187Leu) c.3290A>T (p.His1097Leu) n.3954A>T n.3939A>T n.4855A>T | |
1 | g.5863942T>C | CA553360 | NPHP4 | c.4088A>G (p.His1363Arg) n.3239A>G c.*2989A>G (n.*2989A>G) n.2836A>G n.3820A>G c.*1899A>G (n.*1899A>G) c.2549A>G (p.His850Arg) c.2552A>G (p.His851Arg) n.4903A>G c.4085A>G (p.His1362Arg) c.4046A>G (p.His1349Arg) c.3977A>G (p.His1326Arg) c.4034A>G (p.His1345Arg) c.4043A>G (p.His1348Arg) c.3560A>G (p.His1187Arg) c.3290A>G (p.His1097Arg) n.3954A>G n.3939A>G n.4855A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863942T>G | CA338048949 | NPHP4 | c.4088A>C (p.His1363Pro) n.3239A>C c.*2989A>C (n.*2989A>C) n.2836A>C n.3820A>C c.*1899A>C (n.*1899A>C) c.2549A>C (p.His850Pro) c.2552A>C (p.His851Pro) n.4903A>C c.4085A>C (p.His1362Pro) c.4046A>C (p.His1349Pro) c.3977A>C (p.His1326Pro) c.4034A>C (p.His1345Pro) c.4043A>C (p.His1348Pro) c.3560A>C (p.His1187Pro) c.3290A>C (p.His1097Pro) n.3954A>C n.3939A>C n.4855A>C | dbSNP |
1 | g.5863942T= | CA1147127733 | NPHP4 | c.4088A= (p.His1363=) n.3239A= c.*2989A= (n.*2989A=) n.2836A= n.3820A= c.*1899A= (n.*1899A=) c.2549A= (p.His850=) c.2552A= (p.His851=) n.4903A= c.4085A= (p.His1362=) c.4046A= (p.His1349=) c.3977A= (p.His1326=) c.4034A= (p.His1345=) c.4043A= (p.His1348=) c.3560A= (p.His1187=) c.3290A= (p.His1097=) n.3954A= n.3939A= n.4855A= | |
1 | g.5863943G>A | CA338048951 | NPHP4 | c.4087C>T (p.His1363Tyr) n.3238C>T c.*2988C>T (n.*2988C>T) n.2835C>T n.3819C>T c.*1898C>T (n.*1898C>T) c.2548C>T (p.His850Tyr) c.2551C>T (p.His851Tyr) n.4902C>T c.4084C>T (p.His1362Tyr) c.4045C>T (p.His1349Tyr) c.3976C>T (p.His1326Tyr) c.4033C>T (p.His1345Tyr) c.4042C>T (p.His1348Tyr) c.3559C>T (p.His1187Tyr) c.3289C>T (p.His1097Tyr) n.3953C>T n.3938C>T n.4854C>T | |
1 | g.5863943G>C | CA338048953 | NPHP4 | c.4087C>G (p.His1363Asp) n.3238C>G c.*2988C>G (n.*2988C>G) n.2835C>G n.3819C>G c.*1898C>G (n.*1898C>G) c.2548C>G (p.His850Asp) c.2551C>G (p.His851Asp) n.4902C>G c.4084C>G (p.His1362Asp) c.4045C>G (p.His1349Asp) c.3976C>G (p.His1326Asp) c.4033C>G (p.His1345Asp) c.4042C>G (p.His1348Asp) c.3559C>G (p.His1187Asp) c.3289C>G (p.His1097Asp) n.3953C>G n.3938C>G n.4854C>G | |
1 | g.5863943G>T | CA338048954 | NPHP4 | c.4087C>A (p.His1363Asn) n.3238C>A c.*2988C>A (n.*2988C>A) n.2835C>A n.3819C>A c.*1898C>A (n.*1898C>A) c.2548C>A (p.His850Asn) c.2551C>A (p.His851Asn) n.4902C>A c.4084C>A (p.His1362Asn) c.4045C>A (p.His1349Asn) c.3976C>A (p.His1326Asn) c.4033C>A (p.His1345Asn) c.4042C>A (p.His1348Asn) c.3559C>A (p.His1187Asn) c.3289C>A (p.His1097Asn) n.3953C>A n.3938C>A n.4854C>A | |
1 | g.5863944G>A | CA415786996 | NPHP4 | c.4086C>T (p.Phe1362=) n.3237C>T c.*2987C>T (n.*2987C>T) n.2834C>T n.3818C>T c.*1897C>T (n.*1897C>T) c.2547C>T (p.Phe849=) c.2550C>T (p.Phe850=) n.4901C>T c.4083C>T (p.Phe1361=) c.4044C>T (p.Phe1348=) c.3975C>T (p.Phe1325=) c.4032C>T (p.Phe1344=) c.4041C>T (p.Phe1347=) c.3558C>T (p.Phe1186=) c.3288C>T (p.Phe1096=) n.3952C>T n.3937C>T n.4853C>T | |
1 | g.5863944G>C | CA338048956 | NPHP4 | c.4086C>G (p.Phe1362Leu) n.3237C>G c.*2987C>G (n.*2987C>G) n.2834C>G n.3818C>G c.*1897C>G (n.*1897C>G) c.2547C>G (p.Phe849Leu) c.2550C>G (p.Phe850Leu) n.4901C>G c.4083C>G (p.Phe1361Leu) c.4044C>G (p.Phe1348Leu) c.3975C>G (p.Phe1325Leu) c.4032C>G (p.Phe1344Leu) c.4041C>G (p.Phe1347Leu) c.3558C>G (p.Phe1186Leu) c.3288C>G (p.Phe1096Leu) n.3952C>G n.3937C>G n.4853C>G | |
1 | g.5863944G>T | CA338048958 | NPHP4 | c.4086C>A (p.Phe1362Leu) n.3237C>A c.*2987C>A (n.*2987C>A) n.2834C>A n.3818C>A c.*1897C>A (n.*1897C>A) c.2547C>A (p.Phe849Leu) c.2550C>A (p.Phe850Leu) n.4901C>A c.4083C>A (p.Phe1361Leu) c.4044C>A (p.Phe1348Leu) c.3975C>A (p.Phe1325Leu) c.4032C>A (p.Phe1344Leu) c.4041C>A (p.Phe1347Leu) c.3558C>A (p.Phe1186Leu) c.3288C>A (p.Phe1096Leu) n.3952C>A n.3937C>A n.4853C>A | |
1 | g.5863945A= | CA1151209170 | NPHP4 | c.4085T= (p.Phe1362=) n.3236T= c.*2986T= (n.*2986T=) n.2833T= n.3817T= c.*1896T= (n.*1896T=) c.2546T= (p.Phe849=) c.2549T= (p.Phe850=) n.4900T= c.4082T= (p.Phe1361=) c.4043T= (p.Phe1348=) c.3974T= (p.Phe1325=) c.4031T= (p.Phe1344=) c.4040T= (p.Phe1347=) c.3557T= (p.Phe1186=) c.3287T= (p.Phe1096=) n.3951T= n.3936T= n.4852T= | |
1 | g.5863945A>C | CA338048960 | NPHP4 | c.4085T>G (p.Phe1362Cys) n.3236T>G c.*2986T>G (n.*2986T>G) n.2833T>G n.3817T>G c.*1896T>G (n.*1896T>G) c.2546T>G (p.Phe849Cys) c.2549T>G (p.Phe850Cys) n.4900T>G c.4082T>G (p.Phe1361Cys) c.4043T>G (p.Phe1348Cys) c.3974T>G (p.Phe1325Cys) c.4031T>G (p.Phe1344Cys) c.4040T>G (p.Phe1347Cys) c.3557T>G (p.Phe1186Cys) c.3287T>G (p.Phe1096Cys) n.3951T>G n.3936T>G n.4852T>G | dbSNP |
1 | g.5863945A>G | CA338048961 | NPHP4 | c.4085T>C (p.Phe1362Ser) n.3236T>C c.*2986T>C (n.*2986T>C) n.2833T>C n.3817T>C c.*1896T>C (n.*1896T>C) c.2546T>C (p.Phe849Ser) c.2549T>C (p.Phe850Ser) n.4900T>C c.4082T>C (p.Phe1361Ser) c.4043T>C (p.Phe1348Ser) c.3974T>C (p.Phe1325Ser) c.4031T>C (p.Phe1344Ser) c.4040T>C (p.Phe1347Ser) c.3557T>C (p.Phe1186Ser) c.3287T>C (p.Phe1096Ser) n.3951T>C n.3936T>C n.4852T>C | |
1 | g.5863945A>T | CA338048963 | NPHP4 | c.4085T>A (p.Phe1362Tyr) n.3236T>A c.*2986T>A (n.*2986T>A) n.2833T>A n.3817T>A c.*1896T>A (n.*1896T>A) c.2546T>A (p.Phe849Tyr) c.2549T>A (p.Phe850Tyr) n.4900T>A c.4082T>A (p.Phe1361Tyr) c.4043T>A (p.Phe1348Tyr) c.3974T>A (p.Phe1325Tyr) c.4031T>A (p.Phe1344Tyr) c.4040T>A (p.Phe1347Tyr) c.3557T>A (p.Phe1186Tyr) c.3287T>A (p.Phe1096Tyr) n.3951T>A n.3936T>A n.4852T>A | |
1 | g.5863946A= | CA1151209175 | NPHP4 | c.4084T= (p.Phe1362=) n.3235T= c.*2985T= (n.*2985T=) n.2832T= n.3816T= c.*1895T= (n.*1895T=) c.2545T= (p.Phe849=) c.2548T= (p.Phe850=) n.4899T= c.4081T= (p.Phe1361=) c.4042T= (p.Phe1348=) c.3973T= (p.Phe1325=) c.4030T= (p.Phe1344=) c.4039T= (p.Phe1347=) c.3556T= (p.Phe1186=) c.3286T= (p.Phe1096=) n.3950T= n.3935T= n.4851T= | |
1 | g.5863946A>C | CA338048965 | NPHP4 | c.4084T>G (p.Phe1362Val) n.3235T>G c.*2985T>G (n.*2985T>G) n.2832T>G n.3816T>G c.*1895T>G (n.*1895T>G) c.2545T>G (p.Phe849Val) c.2548T>G (p.Phe850Val) n.4899T>G c.4081T>G (p.Phe1361Val) c.4042T>G (p.Phe1348Val) c.3973T>G (p.Phe1325Val) c.4030T>G (p.Phe1344Val) c.4039T>G (p.Phe1347Val) c.3556T>G (p.Phe1186Val) c.3286T>G (p.Phe1096Val) n.3950T>G n.3935T>G n.4851T>G | |
1 | g.5863946A>G | CA553361 | NPHP4 | c.4084T>C (p.Phe1362Leu) n.3235T>C c.*2985T>C (n.*2985T>C) n.2832T>C n.3816T>C c.*1895T>C (n.*1895T>C) c.2545T>C (p.Phe849Leu) c.2548T>C (p.Phe850Leu) n.4899T>C c.4081T>C (p.Phe1361Leu) c.4042T>C (p.Phe1348Leu) c.3973T>C (p.Phe1325Leu) c.4030T>C (p.Phe1344Leu) c.4039T>C (p.Phe1347Leu) c.3556T>C (p.Phe1186Leu) c.3286T>C (p.Phe1096Leu) n.3950T>C n.3935T>C n.4851T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863946A>T | CA338048968 | NPHP4 | c.4084T>A (p.Phe1362Ile) n.3235T>A c.*2985T>A (n.*2985T>A) n.2832T>A n.3816T>A c.*1895T>A (n.*1895T>A) c.2545T>A (p.Phe849Ile) c.2548T>A (p.Phe850Ile) n.4899T>A c.4081T>A (p.Phe1361Ile) c.4042T>A (p.Phe1348Ile) c.3973T>A (p.Phe1325Ile) c.4030T>A (p.Phe1344Ile) c.4039T>A (p.Phe1347Ile) c.3556T>A (p.Phe1186Ile) c.3286T>A (p.Phe1096Ile) n.3950T>A n.3935T>A n.4851T>A | |
1 | g.5863947T>A | CA415786999 | NPHP4 | c.4083A>T (p.Thr1361=) n.3234A>T c.*2984A>T (n.*2984A>T) n.2831A>T n.3815A>T c.*1894A>T (n.*1894A>T) c.2544A>T (p.Thr848=) c.2547A>T (p.Thr849=) n.4898A>T c.4080A>T (p.Thr1360=) c.4041A>T (p.Thr1347=) c.3972A>T (p.Thr1324=) c.4029A>T (p.Thr1343=) c.4038A>T (p.Thr1346=) c.3555A>T (p.Thr1185=) c.3285A>T (p.Thr1095=) n.3949A>T n.3934A>T n.4850A>T | |
1 | g.5863947T>C | CA415786998 | NPHP4 | c.4083A>G (p.Thr1361=) n.3234A>G c.*2984A>G (n.*2984A>G) n.2831A>G n.3815A>G c.*1894A>G (n.*1894A>G) c.2544A>G (p.Thr848=) c.2547A>G (p.Thr849=) n.4898A>G c.4080A>G (p.Thr1360=) c.4041A>G (p.Thr1347=) c.3972A>G (p.Thr1324=) c.4029A>G (p.Thr1343=) c.4038A>G (p.Thr1346=) c.3555A>G (p.Thr1185=) c.3285A>G (p.Thr1095=) n.3949A>G n.3934A>G n.4850A>G | dbSNP |
1 | g.5863947T>G | CA415786997 | NPHP4 | c.4083A>C (p.Thr1361=) n.3234A>C c.*2984A>C (n.*2984A>C) n.2831A>C n.3815A>C c.*1894A>C (n.*1894A>C) c.2544A>C (p.Thr848=) c.2547A>C (p.Thr849=) n.4898A>C c.4080A>C (p.Thr1360=) c.4041A>C (p.Thr1347=) c.3972A>C (p.Thr1324=) c.4029A>C (p.Thr1343=) c.4038A>C (p.Thr1346=) c.3555A>C (p.Thr1185=) c.3285A>C (p.Thr1095=) n.3949A>C n.3934A>C n.4850A>C | |
1 | g.5863948G>A | CA338048970 | NPHP4 | c.4082C>T (p.Thr1361Ile) n.3233C>T c.*2983C>T (n.*2983C>T) n.2830C>T n.3814C>T c.*1893C>T (n.*1893C>T) c.2543C>T (p.Thr848Ile) c.2546C>T (p.Thr849Ile) n.4897C>T c.4079C>T (p.Thr1360Ile) c.4040C>T (p.Thr1347Ile) c.3971C>T (p.Thr1324Ile) c.4028C>T (p.Thr1343Ile) c.4037C>T (p.Thr1346Ile) c.3554C>T (p.Thr1185Ile) c.3284C>T (p.Thr1095Ile) n.3948C>T n.3933C>T n.4849C>T | |
1 | g.5863948G>C | CA338048971 | NPHP4 | c.4082C>G (p.Thr1361Arg) n.3233C>G c.*2983C>G (n.*2983C>G) n.2830C>G n.3814C>G c.*1893C>G (n.*1893C>G) c.2543C>G (p.Thr848Arg) c.2546C>G (p.Thr849Arg) n.4897C>G c.4079C>G (p.Thr1360Arg) c.4040C>G (p.Thr1347Arg) c.3971C>G (p.Thr1324Arg) c.4028C>G (p.Thr1343Arg) c.4037C>G (p.Thr1346Arg) c.3554C>G (p.Thr1185Arg) c.3284C>G (p.Thr1095Arg) n.3948C>G n.3933C>G n.4849C>G | |
1 | g.5863948G>T | CA338048973 | NPHP4 | c.4082C>A (p.Thr1361Lys) n.3233C>A c.*2983C>A (n.*2983C>A) n.2830C>A n.3814C>A c.*1893C>A (n.*1893C>A) c.2543C>A (p.Thr848Lys) c.2546C>A (p.Thr849Lys) n.4897C>A c.4079C>A (p.Thr1360Lys) c.4040C>A (p.Thr1347Lys) c.3971C>A (p.Thr1324Lys) c.4028C>A (p.Thr1343Lys) c.4037C>A (p.Thr1346Lys) c.3554C>A (p.Thr1185Lys) c.3284C>A (p.Thr1095Lys) n.3948C>A n.3933C>A n.4849C>A | |
1 | g.5863949T>A | CA338048975 | NPHP4 | c.4081A>T (p.Thr1361Ser) n.3232A>T c.*2982A>T (n.*2982A>T) n.2829A>T n.3813A>T c.*1892A>T (n.*1892A>T) c.2542A>T (p.Thr848Ser) c.2545A>T (p.Thr849Ser) n.4896A>T c.4078A>T (p.Thr1360Ser) c.4039A>T (p.Thr1347Ser) c.3970A>T (p.Thr1324Ser) c.4027A>T (p.Thr1343Ser) c.4036A>T (p.Thr1346Ser) c.3553A>T (p.Thr1185Ser) c.3283A>T (p.Thr1095Ser) n.3947A>T n.3932A>T n.4848A>T | |
1 | g.5863949T>C | CA338048977 | NPHP4 | c.4081A>G (p.Thr1361Ala) n.3232A>G c.*2982A>G (n.*2982A>G) n.2829A>G n.3813A>G c.*1892A>G (n.*1892A>G) c.2542A>G (p.Thr848Ala) c.2545A>G (p.Thr849Ala) n.4896A>G c.4078A>G (p.Thr1360Ala) c.4039A>G (p.Thr1347Ala) c.3970A>G (p.Thr1324Ala) c.4027A>G (p.Thr1343Ala) c.4036A>G (p.Thr1346Ala) c.3553A>G (p.Thr1185Ala) c.3283A>G (p.Thr1095Ala) n.3947A>G n.3932A>G n.4848A>G | |
1 | g.5863949T>G | CA338048978 | NPHP4 | c.4081A>C (p.Thr1361Pro) n.3232A>C c.*2982A>C (n.*2982A>C) n.2829A>C n.3813A>C c.*1892A>C (n.*1892A>C) c.2542A>C (p.Thr848Pro) c.2545A>C (p.Thr849Pro) n.4896A>C c.4078A>C (p.Thr1360Pro) c.4039A>C (p.Thr1347Pro) c.3970A>C (p.Thr1324Pro) c.4027A>C (p.Thr1343Pro) c.4036A>C (p.Thr1346Pro) c.3553A>C (p.Thr1185Pro) c.3283A>C (p.Thr1095Pro) n.3947A>C n.3932A>C n.4848A>C | |
1 | g.5863950C>A | CA338048982 | NPHP4 | c.4080G>T (p.Arg1360Ser) n.3231G>T c.*2981G>T (n.*2981G>T) n.2828G>T n.3812G>T c.*1891G>T (n.*1891G>T) c.2541G>T (p.Arg847Ser) c.2544G>T (p.Arg848Ser) n.4895G>T c.4077G>T (p.Arg1359Ser) c.4038G>T (p.Arg1346Ser) c.3969G>T (p.Arg1323Ser) c.4026G>T (p.Arg1342Ser) c.4035G>T (p.Arg1345Ser) c.3552G>T (p.Arg1184Ser) c.3282G>T (p.Arg1094Ser) n.3946G>T n.3931G>T n.4847G>T | |
1 | g.5863950C= | CA1151209178 | NPHP4 | c.4080G= (p.Arg1360=) n.3231G= c.*2981G= (n.*2981G=) n.2828G= n.3812G= c.*1891G= (n.*1891G=) c.2541G= (p.Arg847=) c.2544G= (p.Arg848=) n.4895G= c.4077G= (p.Arg1359=) c.4038G= (p.Arg1346=) c.3969G= (p.Arg1323=) c.4026G= (p.Arg1342=) c.4035G= (p.Arg1345=) c.3552G= (p.Arg1184=) c.3282G= (p.Arg1094=) n.3946G= n.3931G= n.4847G= | |
1 | g.5863950C>G | CA338048983 | NPHP4 | c.4080G>C (p.Arg1360Ser) n.3231G>C c.*2981G>C (n.*2981G>C) n.2828G>C n.3812G>C c.*1891G>C (n.*1891G>C) c.2541G>C (p.Arg847Ser) c.2544G>C (p.Arg848Ser) n.4895G>C c.4077G>C (p.Arg1359Ser) c.4038G>C (p.Arg1346Ser) c.3969G>C (p.Arg1323Ser) c.4026G>C (p.Arg1342Ser) c.4035G>C (p.Arg1345Ser) c.3552G>C (p.Arg1184Ser) c.3282G>C (p.Arg1094Ser) n.3946G>C n.3931G>C n.4847G>C | |
1 | g.5863950C>T | CA553362 | NPHP4 | c.4080G>A (p.Arg1360=) n.3231G>A c.*2981G>A (n.*2981G>A) n.2828G>A n.3812G>A c.*1891G>A (n.*1891G>A) c.2541G>A (p.Arg847=) c.2544G>A (p.Arg848=) n.4895G>A c.4077G>A (p.Arg1359=) c.4038G>A (p.Arg1346=) c.3969G>A (p.Arg1323=) c.4026G>A (p.Arg1342=) c.4035G>A (p.Arg1345=) c.3552G>A (p.Arg1184=) c.3282G>A (p.Arg1094=) n.3946G>A n.3931G>A n.4847G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863951C>A | CA338048985 | NPHP4 | c.4079G>T (p.Arg1360Met) n.3230G>T c.*2980G>T (n.*2980G>T) n.2827G>T n.3811G>T c.*1890G>T (n.*1890G>T) c.2540G>T (p.Arg847Met) c.2543G>T (p.Arg848Met) n.4894G>T c.4076G>T (p.Arg1359Met) c.4037G>T (p.Arg1346Met) c.3968G>T (p.Arg1323Met) c.4025G>T (p.Arg1342Met) c.4034G>T (p.Arg1345Met) c.3551G>T (p.Arg1184Met) c.3281G>T (p.Arg1094Met) n.3945G>T n.3930G>T n.4846G>T | |
1 | g.5863951C>G | CA338048987 | NPHP4 | c.4079G>C (p.Arg1360Thr) n.3230G>C c.*2980G>C (n.*2980G>C) n.2827G>C n.3811G>C c.*1890G>C (n.*1890G>C) c.2540G>C (p.Arg847Thr) c.2543G>C (p.Arg848Thr) n.4894G>C c.4076G>C (p.Arg1359Thr) c.4037G>C (p.Arg1346Thr) c.3968G>C (p.Arg1323Thr) c.4025G>C (p.Arg1342Thr) c.4034G>C (p.Arg1345Thr) c.3551G>C (p.Arg1184Thr) c.3281G>C (p.Arg1094Thr) n.3945G>C n.3930G>C n.4846G>C | gnomAD v4 |
1 | g.5863951C>T | CA338048988 | NPHP4 | c.4079G>A (p.Arg1360Lys) n.3230G>A c.*2980G>A (n.*2980G>A) n.2827G>A n.3811G>A c.*1890G>A (n.*1890G>A) c.2540G>A (p.Arg847Lys) c.2543G>A (p.Arg848Lys) n.4894G>A c.4076G>A (p.Arg1359Lys) c.4037G>A (p.Arg1346Lys) c.3968G>A (p.Arg1323Lys) c.4025G>A (p.Arg1342Lys) c.4034G>A (p.Arg1345Lys) c.3551G>A (p.Arg1184Lys) c.3281G>A (p.Arg1094Lys) n.3945G>A n.3930G>A n.4846G>A | |
1 | g.5863952T>A | CA338048990 | NPHP4 | c.4078A>T (p.Arg1360Trp) n.3229A>T c.*2979A>T (n.*2979A>T) n.2826A>T n.3810A>T c.*1889A>T (n.*1889A>T) c.2539A>T (p.Arg847Trp) c.2542A>T (p.Arg848Trp) n.4893A>T c.4075A>T (p.Arg1359Trp) c.4036A>T (p.Arg1346Trp) c.3967A>T (p.Arg1323Trp) c.4024A>T (p.Arg1342Trp) c.4033A>T (p.Arg1345Trp) c.3550A>T (p.Arg1184Trp) c.3280A>T (p.Arg1094Trp) n.3944A>T n.3929A>T n.4845A>T | |
1 | g.5863952T>C | CA338048991 | NPHP4 | c.4078A>G (p.Arg1360Gly) n.3229A>G c.*2979A>G (n.*2979A>G) n.2826A>G n.3810A>G c.*1889A>G (n.*1889A>G) c.2539A>G (p.Arg847Gly) c.2542A>G (p.Arg848Gly) n.4893A>G c.4075A>G (p.Arg1359Gly) c.4036A>G (p.Arg1346Gly) c.3967A>G (p.Arg1323Gly) c.4024A>G (p.Arg1342Gly) c.4033A>G (p.Arg1345Gly) c.3550A>G (p.Arg1184Gly) c.3280A>G (p.Arg1094Gly) n.3944A>G n.3929A>G n.4845A>G | |
1 | g.5863952T>G | CA415787000 | NPHP4 | c.4078A>C (p.Arg1360=) n.3229A>C c.*2979A>C (n.*2979A>C) n.2826A>C n.3810A>C c.*1889A>C (n.*1889A>C) c.2539A>C (p.Arg847=) c.2542A>C (p.Arg848=) n.4893A>C c.4075A>C (p.Arg1359=) c.4036A>C (p.Arg1346=) c.3967A>C (p.Arg1323=) c.4024A>C (p.Arg1342=) c.4033A>C (p.Arg1345=) c.3550A>C (p.Arg1184=) c.3280A>C (p.Arg1094=) n.3944A>C n.3929A>C n.4845A>C | |
1 | g.5863953C>A | CA415787001 | NPHP4 | c.4077G>T (p.Arg1359=) n.3228G>T c.*2978G>T (n.*2978G>T) n.2825G>T n.3809G>T c.*1888G>T (n.*1888G>T) c.2538G>T (p.Arg846=) c.2541G>T (p.Arg847=) n.4892G>T c.4074G>T (p.Arg1358=) c.4035G>T (p.Arg1345=) c.3966G>T (p.Arg1322=) c.4023G>T (p.Arg1341=) c.4032G>T (p.Arg1344=) c.3549G>T (p.Arg1183=) c.3279G>T (p.Arg1093=) n.3943G>T n.3928G>T n.4844G>T | |
1 | g.5863953C>G | CA415787003 | NPHP4 | c.4077G>C (p.Arg1359=) n.3228G>C c.*2978G>C (n.*2978G>C) n.2825G>C n.3809G>C c.*1888G>C (n.*1888G>C) c.2538G>C (p.Arg846=) c.2541G>C (p.Arg847=) n.4892G>C c.4074G>C (p.Arg1358=) c.4035G>C (p.Arg1345=) c.3966G>C (p.Arg1322=) c.4023G>C (p.Arg1341=) c.4032G>C (p.Arg1344=) c.3549G>C (p.Arg1183=) c.3279G>C (p.Arg1093=) n.3943G>C n.3928G>C n.4844G>C | |
1 | g.5863953C>T | CA415787002 | NPHP4 | c.4077G>A (p.Arg1359=) n.3228G>A c.*2978G>A (n.*2978G>A) n.2825G>A n.3809G>A c.*1888G>A (n.*1888G>A) c.2538G>A (p.Arg846=) c.2541G>A (p.Arg847=) n.4892G>A c.4074G>A (p.Arg1358=) c.4035G>A (p.Arg1345=) c.3966G>A (p.Arg1322=) c.4023G>A (p.Arg1341=) c.4032G>A (p.Arg1344=) c.3549G>A (p.Arg1183=) c.3279G>A (p.Arg1093=) n.3943G>A n.3928G>A n.4844G>A | gnomAD v4 |
1 | g.5863954C>A | CA338048996 | NPHP4 | c.4076G>T (p.Arg1359Leu) n.3227G>T c.*2977G>T (n.*2977G>T) n.2824G>T n.3808G>T c.*1887G>T (n.*1887G>T) c.2537G>T (p.Arg846Leu) c.2540G>T (p.Arg847Leu) n.4891G>T c.4073G>T (p.Arg1358Leu) c.4034G>T (p.Arg1345Leu) c.3965G>T (p.Arg1322Leu) c.4022G>T (p.Arg1341Leu) c.4031G>T (p.Arg1344Leu) c.3548G>T (p.Arg1183Leu) c.3278G>T (p.Arg1093Leu) n.3942G>T n.3927G>T n.4843G>T | |
1 | g.5863954C= | CA1151209184 | NPHP4 | c.4076G= (p.Arg1359=) n.3227G= c.*2977G= (n.*2977G=) n.2824G= n.3808G= c.*1887G= (n.*1887G=) c.2537G= (p.Arg846=) c.2540G= (p.Arg847=) n.4891G= c.4073G= (p.Arg1358=) c.4034G= (p.Arg1345=) c.3965G= (p.Arg1322=) c.4022G= (p.Arg1341=) c.4031G= (p.Arg1344=) c.3548G= (p.Arg1183=) c.3278G= (p.Arg1093=) n.3942G= n.3927G= n.4843G= | |
1 | g.5863954C>G | CA338048993 | NPHP4 | c.4076G>C (p.Arg1359Pro) n.3227G>C c.*2977G>C (n.*2977G>C) n.2824G>C n.3808G>C c.*1887G>C (n.*1887G>C) c.2537G>C (p.Arg846Pro) c.2540G>C (p.Arg847Pro) n.4891G>C c.4073G>C (p.Arg1358Pro) c.4034G>C (p.Arg1345Pro) c.3965G>C (p.Arg1322Pro) c.4022G>C (p.Arg1341Pro) c.4031G>C (p.Arg1344Pro) c.3548G>C (p.Arg1183Pro) c.3278G>C (p.Arg1093Pro) n.3942G>C n.3927G>C n.4843G>C | |
1 | g.5863954C>T | CA553363 | NPHP4 | c.4076G>A (p.Arg1359Gln) n.3227G>A c.*2977G>A (n.*2977G>A) n.2824G>A n.3808G>A c.*1887G>A (n.*1887G>A) c.2537G>A (p.Arg846Gln) c.2540G>A (p.Arg847Gln) n.4891G>A c.4073G>A (p.Arg1358Gln) c.4034G>A (p.Arg1345Gln) c.3965G>A (p.Arg1322Gln) c.4022G>A (p.Arg1341Gln) c.4031G>A (p.Arg1344Gln) c.3548G>A (p.Arg1183Gln) c.3278G>A (p.Arg1093Gln) n.3942G>A n.3927G>A n.4843G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863955G>A | CA235731 | NPHP4 | c.4075C>T (p.Arg1359Trp) n.3226C>T c.*2976C>T (n.*2976C>T) n.2823C>T n.3807C>T c.*1886C>T (n.*1886C>T) c.2536C>T (p.Arg846Trp) c.2539C>T (p.Arg847Trp) n.4890C>T c.4072C>T (p.Arg1358Trp) c.4033C>T (p.Arg1345Trp) c.3964C>T (p.Arg1322Trp) c.4021C>T (p.Arg1341Trp) c.4030C>T (p.Arg1344Trp) c.3547C>T (p.Arg1183Trp) c.3277C>T (p.Arg1093Trp) n.3941C>T n.3926C>T n.4842C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.5863955G>C | CA338048999 | NPHP4 | c.4075C>G (p.Arg1359Gly) n.3226C>G c.*2976C>G (n.*2976C>G) n.2823C>G n.3807C>G c.*1886C>G (n.*1886C>G) c.2536C>G (p.Arg846Gly) c.2539C>G (p.Arg847Gly) n.4890C>G c.4072C>G (p.Arg1358Gly) c.4033C>G (p.Arg1345Gly) c.3964C>G (p.Arg1322Gly) c.4021C>G (p.Arg1341Gly) c.4030C>G (p.Arg1344Gly) c.3547C>G (p.Arg1183Gly) c.3277C>G (p.Arg1093Gly) n.3941C>G n.3926C>G n.4842C>G | |
1 | g.5863955G= | CA1143645390 | NPHP4 | c.4075C= (p.Arg1359=) n.3226C= c.*2976C= (n.*2976C=) n.2823C= n.3807C= c.*1886C= (n.*1886C=) c.2536C= (p.Arg846=) c.2539C= (p.Arg847=) n.4890C= c.4072C= (p.Arg1358=) c.4033C= (p.Arg1345=) c.3964C= (p.Arg1322=) c.4021C= (p.Arg1341=) c.4030C= (p.Arg1344=) c.3547C= (p.Arg1183=) c.3277C= (p.Arg1093=) n.3941C= n.3926C= n.4842C= | |
1 | g.5863955G>T | CA415787004 | NPHP4 | c.4075C>A (p.Arg1359=) n.3226C>A c.*2976C>A (n.*2976C>A) n.2823C>A n.3807C>A c.*1886C>A (n.*1886C>A) c.2536C>A (p.Arg846=) c.2539C>A (p.Arg847=) n.4890C>A c.4072C>A (p.Arg1358=) c.4033C>A (p.Arg1345=) c.3964C>A (p.Arg1322=) c.4021C>A (p.Arg1341=) c.4030C>A (p.Arg1344=) c.3547C>A (p.Arg1183=) c.3277C>A (p.Arg1093=) n.3941C>A n.3926C>A n.4842C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863956G>A | CA415787005 | NPHP4 | c.4074C>T (p.Ser1358=) n.3225C>T c.*2975C>T (n.*2975C>T) n.2822C>T n.3806C>T c.*1885C>T (n.*1885C>T) c.2535C>T (p.Ser845=) c.2538C>T (p.Ser846=) n.4889C>T c.4071C>T (p.Ser1357=) c.4032C>T (p.Ser1344=) c.3963C>T (p.Ser1321=) c.4020C>T (p.Ser1340=) c.4029C>T (p.Ser1343=) c.3546C>T (p.Ser1182=) c.3276C>T (p.Ser1092=) n.3940C>T n.3925C>T n.4841C>T | |
1 | g.5863956G>C | CA415787006 | NPHP4 | c.4074C>G (p.Ser1358=) n.3225C>G c.*2975C>G (n.*2975C>G) n.2822C>G n.3806C>G c.*1885C>G (n.*1885C>G) c.2535C>G (p.Ser845=) c.2538C>G (p.Ser846=) n.4889C>G c.4071C>G (p.Ser1357=) c.4032C>G (p.Ser1344=) c.3963C>G (p.Ser1321=) c.4020C>G (p.Ser1340=) c.4029C>G (p.Ser1343=) c.3546C>G (p.Ser1182=) c.3276C>G (p.Ser1092=) n.3940C>G n.3925C>G n.4841C>G | |
1 | g.5863956G>T | CA415787007 | NPHP4 | c.4074C>A (p.Ser1358=) n.3225C>A c.*2975C>A (n.*2975C>A) n.2822C>A n.3806C>A c.*1885C>A (n.*1885C>A) c.2535C>A (p.Ser845=) c.2538C>A (p.Ser846=) n.4889C>A c.4071C>A (p.Ser1357=) c.4032C>A (p.Ser1344=) c.3963C>A (p.Ser1321=) c.4020C>A (p.Ser1340=) c.4029C>A (p.Ser1343=) c.3546C>A (p.Ser1182=) c.3276C>A (p.Ser1092=) n.3940C>A n.3925C>A n.4841C>A | |
1 | g.5863957G>A | CA553364 | NPHP4 | c.4073C>T (p.Ser1358Phe) n.3224C>T c.*2974C>T (n.*2974C>T) n.2821C>T n.3805C>T c.*1884C>T (n.*1884C>T) c.2534C>T (p.Ser845Phe) c.2537C>T (p.Ser846Phe) n.4888C>T c.4070C>T (p.Ser1357Phe) c.4031C>T (p.Ser1344Phe) c.3962C>T (p.Ser1321Phe) c.4019C>T (p.Ser1340Phe) c.4028C>T (p.Ser1343Phe) c.3545C>T (p.Ser1182Phe) c.3275C>T (p.Ser1092Phe) n.3939C>T n.3924C>T n.4840C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863957G>C | CA338049001 | NPHP4 | c.4073C>G (p.Ser1358Cys) n.3224C>G c.*2974C>G (n.*2974C>G) n.2821C>G n.3805C>G c.*1884C>G (n.*1884C>G) c.2534C>G (p.Ser845Cys) c.2537C>G (p.Ser846Cys) n.4888C>G c.4070C>G (p.Ser1357Cys) c.4031C>G (p.Ser1344Cys) c.3962C>G (p.Ser1321Cys) c.4019C>G (p.Ser1340Cys) c.4028C>G (p.Ser1343Cys) c.3545C>G (p.Ser1182Cys) c.3275C>G (p.Ser1092Cys) n.3939C>G n.3924C>G n.4840C>G | |
1 | g.5863957G= | CA1151209195 | NPHP4 | c.4073C= (p.Ser1358=) n.3224C= c.*2974C= (n.*2974C=) n.2821C= n.3805C= c.*1884C= (n.*1884C=) c.2534C= (p.Ser845=) c.2537C= (p.Ser846=) n.4888C= c.4070C= (p.Ser1357=) c.4031C= (p.Ser1344=) c.3962C= (p.Ser1321=) c.4019C= (p.Ser1340=) c.4028C= (p.Ser1343=) c.3545C= (p.Ser1182=) c.3275C= (p.Ser1092=) n.3939C= n.3924C= n.4840C= | |
1 | g.5863957G>T | CA338049003 | NPHP4 | c.4073C>A (p.Ser1358Tyr) n.3224C>A c.*2974C>A (n.*2974C>A) n.2821C>A n.3805C>A c.*1884C>A (n.*1884C>A) c.2534C>A (p.Ser845Tyr) c.2537C>A (p.Ser846Tyr) n.4888C>A c.4070C>A (p.Ser1357Tyr) c.4031C>A (p.Ser1344Tyr) c.3962C>A (p.Ser1321Tyr) c.4019C>A (p.Ser1340Tyr) c.4028C>A (p.Ser1343Tyr) c.3545C>A (p.Ser1182Tyr) c.3275C>A (p.Ser1092Tyr) n.3939C>A n.3924C>A n.4840C>A | |
1 | g.5863958A>C | CA338049009 | NPHP4 | c.4072T>G (p.Ser1358Ala) n.3223T>G c.*2973T>G (n.*2973T>G) n.2820T>G n.3804T>G c.*1883T>G (n.*1883T>G) c.2533T>G (p.Ser845Ala) c.2536T>G (p.Ser846Ala) n.4887T>G c.4069T>G (p.Ser1357Ala) c.4030T>G (p.Ser1344Ala) c.3961T>G (p.Ser1321Ala) c.4018T>G (p.Ser1340Ala) c.4027T>G (p.Ser1343Ala) c.3544T>G (p.Ser1182Ala) c.3274T>G (p.Ser1092Ala) n.3938T>G n.3923T>G n.4839T>G | |
1 | g.5863958A>G | CA338049006 | NPHP4 | c.4072T>C (p.Ser1358Pro) n.3223T>C c.*2973T>C (n.*2973T>C) n.2820T>C n.3804T>C c.*1883T>C (n.*1883T>C) c.2533T>C (p.Ser845Pro) c.2536T>C (p.Ser846Pro) n.4887T>C c.4069T>C (p.Ser1357Pro) c.4030T>C (p.Ser1344Pro) c.3961T>C (p.Ser1321Pro) c.4018T>C (p.Ser1340Pro) c.4027T>C (p.Ser1343Pro) c.3544T>C (p.Ser1182Pro) c.3274T>C (p.Ser1092Pro) n.3938T>C n.3923T>C n.4839T>C | |
1 | g.5863958A>T | CA338049005 | NPHP4 | c.4072T>A (p.Ser1358Thr) n.3223T>A c.*2973T>A (n.*2973T>A) n.2820T>A n.3804T>A c.*1883T>A (n.*1883T>A) c.2533T>A (p.Ser845Thr) c.2536T>A (p.Ser846Thr) n.4887T>A c.4069T>A (p.Ser1357Thr) c.4030T>A (p.Ser1344Thr) c.3961T>A (p.Ser1321Thr) c.4018T>A (p.Ser1340Thr) c.4027T>A (p.Ser1343Thr) c.3544T>A (p.Ser1182Thr) c.3274T>A (p.Ser1092Thr) n.3938T>A n.3923T>A n.4839T>A | |
1 | g.5863959G>A | CA415787008 | NPHP4 | c.4071C>T (p.Pro1357=) n.3222C>T c.*2972C>T (n.*2972C>T) n.2819C>T n.3803C>T c.*1882C>T (n.*1882C>T) c.2532C>T (p.Pro844=) c.2535C>T (p.Pro845=) n.4886C>T c.4068C>T (p.Pro1356=) c.4029C>T (p.Pro1343=) c.3960C>T (p.Pro1320=) c.4017C>T (p.Pro1339=) c.4026C>T (p.Pro1342=) c.3543C>T (p.Pro1181=) c.3273C>T (p.Pro1091=) n.3937C>T n.3922C>T n.4838C>T | |
1 | g.5863959G>C | CA415787009 | NPHP4 | c.4071C>G (p.Pro1357=) n.3222C>G c.*2972C>G (n.*2972C>G) n.2819C>G n.3803C>G c.*1882C>G (n.*1882C>G) c.2532C>G (p.Pro844=) c.2535C>G (p.Pro845=) n.4886C>G c.4068C>G (p.Pro1356=) c.4029C>G (p.Pro1343=) c.3960C>G (p.Pro1320=) c.4017C>G (p.Pro1339=) c.4026C>G (p.Pro1342=) c.3543C>G (p.Pro1181=) c.3273C>G (p.Pro1091=) n.3937C>G n.3922C>G n.4838C>G | gnomAD v4 |
1 | g.5863959G>T | CA415787010 | NPHP4 | c.4071C>A (p.Pro1357=) n.3222C>A c.*2972C>A (n.*2972C>A) n.2819C>A n.3803C>A c.*1882C>A (n.*1882C>A) c.2532C>A (p.Pro844=) c.2535C>A (p.Pro845=) n.4886C>A c.4068C>A (p.Pro1356=) c.4029C>A (p.Pro1343=) c.3960C>A (p.Pro1320=) c.4017C>A (p.Pro1339=) c.4026C>A (p.Pro1342=) c.3543C>A (p.Pro1181=) c.3273C>A (p.Pro1091=) n.3937C>A n.3922C>A n.4838C>A | gnomAD v4 |
1 | g.5863960G>A | CA553365 | NPHP4 | c.4070C>T (p.Pro1357Leu) n.3221C>T c.*2971C>T (n.*2971C>T) n.2818C>T n.3802C>T c.*1881C>T (n.*1881C>T) c.2531C>T (p.Pro844Leu) c.2534C>T (p.Pro845Leu) n.4885C>T c.4067C>T (p.Pro1356Leu) c.4028C>T (p.Pro1343Leu) c.3959C>T (p.Pro1320Leu) c.4016C>T (p.Pro1339Leu) c.4025C>T (p.Pro1342Leu) c.3542C>T (p.Pro1181Leu) c.3272C>T (p.Pro1091Leu) n.3936C>T n.3921C>T n.4837C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863960G>C | CA338049014 | NPHP4 | c.4070C>G (p.Pro1357Arg) n.3221C>G c.*2971C>G (n.*2971C>G) n.2818C>G n.3802C>G c.*1881C>G (n.*1881C>G) c.2531C>G (p.Pro844Arg) c.2534C>G (p.Pro845Arg) n.4885C>G c.4067C>G (p.Pro1356Arg) c.4028C>G (p.Pro1343Arg) c.3959C>G (p.Pro1320Arg) c.4016C>G (p.Pro1339Arg) c.4025C>G (p.Pro1342Arg) c.3542C>G (p.Pro1181Arg) c.3272C>G (p.Pro1091Arg) n.3936C>G n.3921C>G n.4837C>G | |
1 | g.5863960G= | CA1151209198 | NPHP4 | c.4070C= (p.Pro1357=) n.3221C= c.*2971C= (n.*2971C=) n.2818C= n.3802C= c.*1881C= (n.*1881C=) c.2531C= (p.Pro844=) c.2534C= (p.Pro845=) n.4885C= c.4067C= (p.Pro1356=) c.4028C= (p.Pro1343=) c.3959C= (p.Pro1320=) c.4016C= (p.Pro1339=) c.4025C= (p.Pro1342=) c.3542C= (p.Pro1181=) c.3272C= (p.Pro1091=) n.3936C= n.3921C= n.4837C= | |
1 | g.5863960G>T | CA338049012 | NPHP4 | c.4070C>A (p.Pro1357His) n.3221C>A c.*2971C>A (n.*2971C>A) n.2818C>A n.3802C>A c.*1881C>A (n.*1881C>A) c.2531C>A (p.Pro844His) c.2534C>A (p.Pro845His) n.4885C>A c.4067C>A (p.Pro1356His) c.4028C>A (p.Pro1343His) c.3959C>A (p.Pro1320His) c.4016C>A (p.Pro1339His) c.4025C>A (p.Pro1342His) c.3542C>A (p.Pro1181His) c.3272C>A (p.Pro1091His) n.3936C>A n.3921C>A n.4837C>A | |
1 | g.5863961G>A | CA338049015 | NPHP4 | c.4069C>T (p.Pro1357Ser) n.3220C>T c.*2970C>T (n.*2970C>T) n.2817C>T n.3801C>T c.*1880C>T (n.*1880C>T) c.2530C>T (p.Pro844Ser) c.2533C>T (p.Pro845Ser) n.4884C>T c.4066C>T (p.Pro1356Ser) c.4027C>T (p.Pro1343Ser) c.3958C>T (p.Pro1320Ser) c.4015C>T (p.Pro1339Ser) c.4024C>T (p.Pro1342Ser) c.3541C>T (p.Pro1181Ser) c.3271C>T (p.Pro1091Ser) n.3935C>T n.3920C>T n.4836C>T | |
1 | g.5863961G>C | CA338049019 | NPHP4 | c.4069C>G (p.Pro1357Ala) n.3220C>G c.*2970C>G (n.*2970C>G) n.2817C>G n.3801C>G c.*1880C>G (n.*1880C>G) c.2530C>G (p.Pro844Ala) c.2533C>G (p.Pro845Ala) n.4884C>G c.4066C>G (p.Pro1356Ala) c.4027C>G (p.Pro1343Ala) c.3958C>G (p.Pro1320Ala) c.4015C>G (p.Pro1339Ala) c.4024C>G (p.Pro1342Ala) c.3541C>G (p.Pro1181Ala) c.3271C>G (p.Pro1091Ala) n.3935C>G n.3920C>G n.4836C>G | gnomAD v4 |
1 | g.5863961G= | CA1151209200 | NPHP4 | c.4069C= (p.Pro1357=) n.3220C= c.*2970C= (n.*2970C=) n.2817C= n.3801C= c.*1880C= (n.*1880C=) c.2530C= (p.Pro844=) c.2533C= (p.Pro845=) n.4884C= c.4066C= (p.Pro1356=) c.4027C= (p.Pro1343=) c.3958C= (p.Pro1320=) c.4015C= (p.Pro1339=) c.4024C= (p.Pro1342=) c.3541C= (p.Pro1181=) c.3271C= (p.Pro1091=) n.3935C= n.3920C= n.4836C= | |
1 | g.5863961G>T | CA338049017 | NPHP4 | c.4069C>A (p.Pro1357Thr) n.3220C>A c.*2970C>A (n.*2970C>A) n.2817C>A n.3801C>A c.*1880C>A (n.*1880C>A) c.2530C>A (p.Pro844Thr) c.2533C>A (p.Pro845Thr) n.4884C>A c.4066C>A (p.Pro1356Thr) c.4027C>A (p.Pro1343Thr) c.3958C>A (p.Pro1320Thr) c.4015C>A (p.Pro1339Thr) c.4024C>A (p.Pro1342Thr) c.3541C>A (p.Pro1181Thr) c.3271C>A (p.Pro1091Thr) n.3935C>A n.3920C>A n.4836C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863962G>A | CA415787011 | NPHP4 | c.4068C>T (p.Tyr1356=) n.3219C>T c.*2969C>T (n.*2969C>T) n.2816C>T n.3800C>T c.*1879C>T (n.*1879C>T) c.2529C>T (p.Tyr843=) c.2532C>T (p.Tyr844=) n.4883C>T c.4065C>T (p.Tyr1355=) c.4026C>T (p.Tyr1342=) c.3957C>T (p.Tyr1319=) c.4014C>T (p.Tyr1338=) c.4023C>T (p.Tyr1341=) c.3540C>T (p.Tyr1180=) c.3270C>T (p.Tyr1090=) n.3934C>T n.3919C>T n.4835C>T | |
1 | g.5863962G>C | CA338049021 | NPHP4 | c.4068C>G (p.Tyr1356Ter) n.3219C>G c.*2969C>G (n.*2969C>G) n.2816C>G n.3800C>G c.*1879C>G (n.*1879C>G) c.2529C>G (p.Tyr843Ter) c.2532C>G (p.Tyr844Ter) n.4883C>G c.4065C>G (p.Tyr1355Ter) c.4026C>G (p.Tyr1342Ter) c.3957C>G (p.Tyr1319Ter) c.4014C>G (p.Tyr1338Ter) c.4023C>G (p.Tyr1341Ter) c.3540C>G (p.Tyr1180Ter) c.3270C>G (p.Tyr1090Ter) n.3934C>G n.3919C>G n.4835C>G | |
1 | g.5863962G>T | CA338049023 | NPHP4 | c.4068C>A (p.Tyr1356Ter) n.3219C>A c.*2969C>A (n.*2969C>A) n.2816C>A n.3800C>A c.*1879C>A (n.*1879C>A) c.2529C>A (p.Tyr843Ter) c.2532C>A (p.Tyr844Ter) n.4883C>A c.4065C>A (p.Tyr1355Ter) c.4026C>A (p.Tyr1342Ter) c.3957C>A (p.Tyr1319Ter) c.4014C>A (p.Tyr1338Ter) c.4023C>A (p.Tyr1341Ter) c.3540C>A (p.Tyr1180Ter) c.3270C>A (p.Tyr1090Ter) n.3934C>A n.3919C>A n.4835C>A | |
1 | g.5863963T>A | CA338049026 | NPHP4 | c.4067A>T (p.Tyr1356Phe) n.3218A>T c.*2968A>T (n.*2968A>T) n.2815A>T n.3799A>T c.*1878A>T (n.*1878A>T) c.2528A>T (p.Tyr843Phe) c.2531A>T (p.Tyr844Phe) n.4882A>T c.4064A>T (p.Tyr1355Phe) c.4025A>T (p.Tyr1342Phe) c.3956A>T (p.Tyr1319Phe) c.4013A>T (p.Tyr1338Phe) c.4022A>T (p.Tyr1341Phe) c.3539A>T (p.Tyr1180Phe) c.3269A>T (p.Tyr1090Phe) n.3933A>T n.3918A>T n.4834A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863963T>C | CA553367 | NPHP4 | c.4067A>G (p.Tyr1356Cys) n.3218A>G c.*2968A>G (n.*2968A>G) n.2815A>G n.3799A>G c.*1878A>G (n.*1878A>G) c.2528A>G (p.Tyr843Cys) c.2531A>G (p.Tyr844Cys) n.4882A>G c.4064A>G (p.Tyr1355Cys) c.4025A>G (p.Tyr1342Cys) c.3956A>G (p.Tyr1319Cys) c.4013A>G (p.Tyr1338Cys) c.4022A>G (p.Tyr1341Cys) c.3539A>G (p.Tyr1180Cys) c.3269A>G (p.Tyr1090Cys) n.3933A>G n.3918A>G n.4834A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863963T>G | CA553366 | NPHP4 | c.4067A>C (p.Tyr1356Ser) n.3218A>C c.*2968A>C (n.*2968A>C) n.2815A>C n.3799A>C c.*1878A>C (n.*1878A>C) c.2528A>C (p.Tyr843Ser) c.2531A>C (p.Tyr844Ser) n.4882A>C c.4064A>C (p.Tyr1355Ser) c.4025A>C (p.Tyr1342Ser) c.3956A>C (p.Tyr1319Ser) c.4013A>C (p.Tyr1338Ser) c.4022A>C (p.Tyr1341Ser) c.3539A>C (p.Tyr1180Ser) c.3269A>C (p.Tyr1090Ser) n.3933A>C n.3918A>C n.4834A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863963T= | CA1148433686 | NPHP4 | c.4067A= (p.Tyr1356=) n.3218A= c.*2968A= (n.*2968A=) n.2815A= n.3799A= c.*1878A= (n.*1878A=) c.2528A= (p.Tyr843=) c.2531A= (p.Tyr844=) n.4882A= c.4064A= (p.Tyr1355=) c.4025A= (p.Tyr1342=) c.3956A= (p.Tyr1319=) c.4013A= (p.Tyr1338=) c.4022A= (p.Tyr1341=) c.3539A= (p.Tyr1180=) c.3269A= (p.Tyr1090=) n.3933A= n.3918A= n.4834A= | |
1 | g.5863964A>C | CA338049029 | NPHP4 | c.4066T>G (p.Tyr1356Asp) n.3217T>G c.*2967T>G (n.*2967T>G) n.2814T>G n.3798T>G c.*1877T>G (n.*1877T>G) c.2527T>G (p.Tyr843Asp) c.2530T>G (p.Tyr844Asp) n.4881T>G c.4063T>G (p.Tyr1355Asp) c.4024T>G (p.Tyr1342Asp) c.3955T>G (p.Tyr1319Asp) c.4012T>G (p.Tyr1338Asp) c.4021T>G (p.Tyr1341Asp) c.3538T>G (p.Tyr1180Asp) c.3268T>G (p.Tyr1090Asp) n.3932T>G n.3917T>G n.4833T>G | |
1 | g.5863964A>G | CA338049031 | NPHP4 | c.4066T>C (p.Tyr1356His) n.3217T>C c.*2967T>C (n.*2967T>C) n.2814T>C n.3798T>C c.*1877T>C (n.*1877T>C) c.2527T>C (p.Tyr843His) c.2530T>C (p.Tyr844His) n.4881T>C c.4063T>C (p.Tyr1355His) c.4024T>C (p.Tyr1342His) c.3955T>C (p.Tyr1319His) c.4012T>C (p.Tyr1338His) c.4021T>C (p.Tyr1341His) c.3538T>C (p.Tyr1180His) c.3268T>C (p.Tyr1090His) n.3932T>C n.3917T>C n.4833T>C | |
1 | g.5863964A>T | CA338049032 | NPHP4 | c.4066T>A (p.Tyr1356Asn) n.3217T>A c.*2967T>A (n.*2967T>A) n.2814T>A n.3798T>A c.*1877T>A (n.*1877T>A) c.2527T>A (p.Tyr843Asn) c.2530T>A (p.Tyr844Asn) n.4881T>A c.4063T>A (p.Tyr1355Asn) c.4024T>A (p.Tyr1342Asn) c.3955T>A (p.Tyr1319Asn) c.4012T>A (p.Tyr1338Asn) c.4021T>A (p.Tyr1341Asn) c.3538T>A (p.Tyr1180Asn) c.3268T>A (p.Tyr1090Asn) n.3932T>A n.3917T>A n.4833T>A | |
1 | g.5863965G>A | CA415787013 | NPHP4 | c.4065C>T (p.Pro1355=) n.3216C>T c.*2966C>T (n.*2966C>T) n.2813C>T n.3797C>T c.*1876C>T (n.*1876C>T) c.2526C>T (p.Pro842=) c.2529C>T (p.Pro843=) n.4880C>T c.4062C>T (p.Pro1354=) c.4023C>T (p.Pro1341=) c.3954C>T (p.Pro1318=) c.4011C>T (p.Pro1337=) c.4020C>T (p.Pro1340=) c.3537C>T (p.Pro1179=) c.3267C>T (p.Pro1089=) n.3931C>T n.3916C>T n.4832C>T | ClinVar dbSNP |
1 | g.5863965G>C | CA415787014 | NPHP4 | c.4065C>G (p.Pro1355=) n.3216C>G c.*2966C>G (n.*2966C>G) n.2813C>G n.3797C>G c.*1876C>G (n.*1876C>G) c.2526C>G (p.Pro842=) c.2529C>G (p.Pro843=) n.4880C>G c.4062C>G (p.Pro1354=) c.4023C>G (p.Pro1341=) c.3954C>G (p.Pro1318=) c.4011C>G (p.Pro1337=) c.4020C>G (p.Pro1340=) c.3537C>G (p.Pro1179=) c.3267C>G (p.Pro1089=) n.3931C>G n.3916C>G n.4832C>G | |
1 | g.5863965G>T | CA415787015 | NPHP4 | c.4065C>A (p.Pro1355=) n.3216C>A c.*2966C>A (n.*2966C>A) n.2813C>A n.3797C>A c.*1876C>A (n.*1876C>A) c.2526C>A (p.Pro842=) c.2529C>A (p.Pro843=) n.4880C>A c.4062C>A (p.Pro1354=) c.4023C>A (p.Pro1341=) c.3954C>A (p.Pro1318=) c.4011C>A (p.Pro1337=) c.4020C>A (p.Pro1340=) c.3537C>A (p.Pro1179=) c.3267C>A (p.Pro1089=) n.3931C>A n.3916C>A n.4832C>A | |
1 | g.5863968del | CA2580062649 | NPHP4 | c.4065del (p.Tyr1356ThrfsTer?) n.3216del c.*2966del (n.*2966del) n.2813del n.3797del c.*1876del (n.*1876del) c.2526del (p.Tyr843ThrfsTer?) c.2529del (p.Tyr844ThrfsTer?) n.4880del c.4062del (p.Tyr1355ThrfsTer?) c.4023del (p.Tyr1342ThrfsTer?) c.3954del (p.Tyr1319ThrfsTer?) c.4011del (p.Tyr1338ThrfsTer?) c.4020del (p.Tyr1341ThrfsTer?) c.3537del (p.Tyr1180ThrfsTer?) c.3267del (p.Tyr1090ThrfsTer?) n.3931del n.3916del n.4832del | ClinVar |
1 | g.5863966G>A | CA338049033 | NPHP4 | c.4064C>T (p.Pro1355Leu) n.3215C>T c.*2965C>T (n.*2965C>T) n.2812C>T n.3796C>T c.*1875C>T (n.*1875C>T) c.2525C>T (p.Pro842Leu) c.2528C>T (p.Pro843Leu) n.4879C>T c.4061C>T (p.Pro1354Leu) c.4022C>T (p.Pro1341Leu) c.3953C>T (p.Pro1318Leu) c.4010C>T (p.Pro1337Leu) c.4019C>T (p.Pro1340Leu) c.3536C>T (p.Pro1179Leu) c.3266C>T (p.Pro1089Leu) n.3930C>T n.3915C>T n.4831C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863966G>C | CA338049034 | NPHP4 | c.4064C>G (p.Pro1355Arg) n.3215C>G c.*2965C>G (n.*2965C>G) n.2812C>G n.3796C>G c.*1875C>G (n.*1875C>G) c.2525C>G (p.Pro842Arg) c.2528C>G (p.Pro843Arg) n.4879C>G c.4061C>G (p.Pro1354Arg) c.4022C>G (p.Pro1341Arg) c.3953C>G (p.Pro1318Arg) c.4010C>G (p.Pro1337Arg) c.4019C>G (p.Pro1340Arg) c.3536C>G (p.Pro1179Arg) c.3266C>G (p.Pro1089Arg) n.3930C>G n.3915C>G n.4831C>G | |
1 | g.5863966G= | CA1151209205 | NPHP4 | c.4064C= (p.Pro1355=) n.3215C= c.*2965C= (n.*2965C=) n.2812C= n.3796C= c.*1875C= (n.*1875C=) c.2525C= (p.Pro842=) c.2528C= (p.Pro843=) n.4879C= c.4061C= (p.Pro1354=) c.4022C= (p.Pro1341=) c.3953C= (p.Pro1318=) c.4010C= (p.Pro1337=) c.4019C= (p.Pro1340=) c.3536C= (p.Pro1179=) c.3266C= (p.Pro1089=) n.3930C= n.3915C= n.4831C= | |
1 | g.5863966G>T | CA338049036 | NPHP4 | c.4064C>A (p.Pro1355His) n.3215C>A c.*2965C>A (n.*2965C>A) n.2812C>A n.3796C>A c.*1875C>A (n.*1875C>A) c.2525C>A (p.Pro842His) c.2528C>A (p.Pro843His) n.4879C>A c.4061C>A (p.Pro1354His) c.4022C>A (p.Pro1341His) c.3953C>A (p.Pro1318His) c.4010C>A (p.Pro1337His) c.4019C>A (p.Pro1340His) c.3536C>A (p.Pro1179His) c.3266C>A (p.Pro1089His) n.3930C>A n.3915C>A n.4831C>A | |
1 | g.5863967G>A | CA338049038 | NPHP4 | c.4063C>T (p.Pro1355Ser) n.3214C>T c.*2964C>T (n.*2964C>T) n.2811C>T n.3795C>T c.*1874C>T (n.*1874C>T) c.2524C>T (p.Pro842Ser) c.2527C>T (p.Pro843Ser) n.4878C>T c.4060C>T (p.Pro1354Ser) c.4021C>T (p.Pro1341Ser) c.3952C>T (p.Pro1318Ser) c.4009C>T (p.Pro1337Ser) c.4018C>T (p.Pro1340Ser) c.3535C>T (p.Pro1179Ser) c.3265C>T (p.Pro1089Ser) n.3929C>T n.3914C>T n.4830C>T | dbSNP gnomAD v4 |
1 | g.5863967G>C | CA338049039 | NPHP4 | c.4063C>G (p.Pro1355Ala) n.3214C>G c.*2964C>G (n.*2964C>G) n.2811C>G n.3795C>G c.*1874C>G (n.*1874C>G) c.2524C>G (p.Pro842Ala) c.2527C>G (p.Pro843Ala) n.4878C>G c.4060C>G (p.Pro1354Ala) c.4021C>G (p.Pro1341Ala) c.3952C>G (p.Pro1318Ala) c.4009C>G (p.Pro1337Ala) c.4018C>G (p.Pro1340Ala) c.3535C>G (p.Pro1179Ala) c.3265C>G (p.Pro1089Ala) n.3929C>G n.3914C>G n.4830C>G | gnomAD v4 |
1 | g.5863967G= | CA1151209209 | NPHP4 | c.4063C= (p.Pro1355=) n.3214C= c.*2964C= (n.*2964C=) n.2811C= n.3795C= c.*1874C= (n.*1874C=) c.2524C= (p.Pro842=) c.2527C= (p.Pro843=) n.4878C= c.4060C= (p.Pro1354=) c.4021C= (p.Pro1341=) c.3952C= (p.Pro1318=) c.4009C= (p.Pro1337=) c.4018C= (p.Pro1340=) c.3535C= (p.Pro1179=) c.3265C= (p.Pro1089=) n.3929C= n.3914C= n.4830C= | |
1 | g.5863967G>T | CA338049041 | NPHP4 | c.4063C>A (p.Pro1355Thr) n.3214C>A c.*2964C>A (n.*2964C>A) n.2811C>A n.3795C>A c.*1874C>A (n.*1874C>A) c.2524C>A (p.Pro842Thr) c.2527C>A (p.Pro843Thr) n.4878C>A c.4060C>A (p.Pro1354Thr) c.4021C>A (p.Pro1341Thr) c.3952C>A (p.Pro1318Thr) c.4009C>A (p.Pro1337Thr) c.4018C>A (p.Pro1340Thr) c.3535C>A (p.Pro1179Thr) c.3265C>A (p.Pro1089Thr) n.3929C>A n.3914C>A n.4830C>A | |
1 | g.5863968G>A | CA415787017 | NPHP4 | c.4062C>T (p.Asn1354=) n.3213C>T c.*2963C>T (n.*2963C>T) n.2810C>T n.3794C>T c.*1873C>T (n.*1873C>T) c.2523C>T (p.Asn841=) c.2526C>T (p.Asn842=) n.4877C>T c.4059C>T (p.Asn1353=) c.4020C>T (p.Asn1340=) c.3951C>T (p.Asn1317=) c.4008C>T (p.Asn1336=) c.4017C>T (p.Asn1339=) c.3534C>T (p.Asn1178=) c.3264C>T (p.Asn1088=) n.3928C>T n.3913C>T n.4829C>T | ClinVar gnomAD v4 |
1 | g.5863968G>C | CA338049045 | NPHP4 | c.4062C>G (p.Asn1354Lys) n.3213C>G c.*2963C>G (n.*2963C>G) n.2810C>G n.3794C>G c.*1873C>G (n.*1873C>G) c.2523C>G (p.Asn841Lys) c.2526C>G (p.Asn842Lys) n.4877C>G c.4059C>G (p.Asn1353Lys) c.4020C>G (p.Asn1340Lys) c.3951C>G (p.Asn1317Lys) c.4008C>G (p.Asn1336Lys) c.4017C>G (p.Asn1339Lys) c.3534C>G (p.Asn1178Lys) c.3264C>G (p.Asn1088Lys) n.3928C>G n.3913C>G n.4829C>G | |
1 | g.5863968G>T | CA338049043 | NPHP4 | c.4062C>A (p.Asn1354Lys) n.3213C>A c.*2963C>A (n.*2963C>A) n.2810C>A n.3794C>A c.*1873C>A (n.*1873C>A) c.2523C>A (p.Asn841Lys) c.2526C>A (p.Asn842Lys) n.4877C>A c.4059C>A (p.Asn1353Lys) c.4020C>A (p.Asn1340Lys) c.3951C>A (p.Asn1317Lys) c.4008C>A (p.Asn1336Lys) c.4017C>A (p.Asn1339Lys) c.3534C>A (p.Asn1178Lys) c.3264C>A (p.Asn1088Lys) n.3928C>A n.3913C>A n.4829C>A | |
1 | g.5863969T>A | CA338049047 | NPHP4 | c.4061A>T (p.Asn1354Ile) n.3212A>T c.*2962A>T (n.*2962A>T) n.2809A>T n.3793A>T c.*1872A>T (n.*1872A>T) c.2522A>T (p.Asn841Ile) c.2525A>T (p.Asn842Ile) n.4876A>T c.4058A>T (p.Asn1353Ile) c.4019A>T (p.Asn1340Ile) c.3950A>T (p.Asn1317Ile) c.4007A>T (p.Asn1336Ile) c.4016A>T (p.Asn1339Ile) c.3533A>T (p.Asn1178Ile) c.3263A>T (p.Asn1088Ile) n.3927A>T n.3912A>T n.4828A>T | |
1 | g.5863969T>C | CA338049048 | NPHP4 | c.4061A>G (p.Asn1354Ser) n.3212A>G c.*2962A>G (n.*2962A>G) n.2809A>G n.3793A>G c.*1872A>G (n.*1872A>G) c.2522A>G (p.Asn841Ser) c.2525A>G (p.Asn842Ser) n.4876A>G c.4058A>G (p.Asn1353Ser) c.4019A>G (p.Asn1340Ser) c.3950A>G (p.Asn1317Ser) c.4007A>G (p.Asn1336Ser) c.4016A>G (p.Asn1339Ser) c.3533A>G (p.Asn1178Ser) c.3263A>G (p.Asn1088Ser) n.3927A>G n.3912A>G n.4828A>G | |
1 | g.5863969T>G | CA338049050 | NPHP4 | c.4061A>C (p.Asn1354Thr) n.3212A>C c.*2962A>C (n.*2962A>C) n.2809A>C n.3793A>C c.*1872A>C (n.*1872A>C) c.2522A>C (p.Asn841Thr) c.2525A>C (p.Asn842Thr) n.4876A>C c.4058A>C (p.Asn1353Thr) c.4019A>C (p.Asn1340Thr) c.3950A>C (p.Asn1317Thr) c.4007A>C (p.Asn1336Thr) c.4016A>C (p.Asn1339Thr) c.3533A>C (p.Asn1178Thr) c.3263A>C (p.Asn1088Thr) n.3927A>C n.3912A>C n.4828A>C | gnomAD v4 |
1 | g.5863970T>A | CA338049052 | NPHP4 | c.4060A>T (p.Asn1354Tyr) n.3211A>T c.*2961A>T (n.*2961A>T) n.2808A>T n.3792A>T c.*1871A>T (n.*1871A>T) c.2521A>T (p.Asn841Tyr) c.2524A>T (p.Asn842Tyr) n.4875A>T c.4057A>T (p.Asn1353Tyr) c.4018A>T (p.Asn1340Tyr) c.3949A>T (p.Asn1317Tyr) c.4006A>T (p.Asn1336Tyr) c.4015A>T (p.Asn1339Tyr) c.3532A>T (p.Asn1178Tyr) c.3262A>T (p.Asn1088Tyr) n.3926A>T n.3911A>T n.4827A>T | |
1 | g.5863970T>C | CA338049054 | NPHP4 | c.4060A>G (p.Asn1354Asp) n.3211A>G c.*2961A>G (n.*2961A>G) n.2808A>G n.3792A>G c.*1871A>G (n.*1871A>G) c.2521A>G (p.Asn841Asp) c.2524A>G (p.Asn842Asp) n.4875A>G c.4057A>G (p.Asn1353Asp) c.4018A>G (p.Asn1340Asp) c.3949A>G (p.Asn1317Asp) c.4006A>G (p.Asn1336Asp) c.4015A>G (p.Asn1339Asp) c.3532A>G (p.Asn1178Asp) c.3262A>G (p.Asn1088Asp) n.3926A>G n.3911A>G n.4827A>G | |
1 | g.5863970T>G | CA338049055 | NPHP4 | c.4060A>C (p.Asn1354His) n.3211A>C c.*2961A>C (n.*2961A>C) n.2808A>C n.3792A>C c.*1871A>C (n.*1871A>C) c.2521A>C (p.Asn841His) c.2524A>C (p.Asn842His) n.4875A>C c.4057A>C (p.Asn1353His) c.4018A>C (p.Asn1340His) c.3949A>C (p.Asn1317His) c.4006A>C (p.Asn1336His) c.4015A>C (p.Asn1339His) c.3532A>C (p.Asn1178His) c.3262A>C (p.Asn1088His) n.3926A>C n.3911A>C n.4827A>C | |
1 | g.5863971G>A | CA415787018 | NPHP4 | c.4059C>T (p.Thr1353=) n.3210C>T c.*2960C>T (n.*2960C>T) n.2807C>T n.3791C>T c.*1870C>T (n.*1870C>T) c.2520C>T (p.Thr840=) c.2523C>T (p.Thr841=) n.4874C>T c.4056C>T (p.Thr1352=) c.4017C>T (p.Thr1339=) c.3948C>T (p.Thr1316=) c.4005C>T (p.Thr1335=) c.4014C>T (p.Thr1338=) c.3531C>T (p.Thr1177=) c.3261C>T (p.Thr1087=) n.3925C>T n.3910C>T n.4826C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863971G>C | CA415787019 | NPHP4 | c.4059C>G (p.Thr1353=) n.3210C>G c.*2960C>G (n.*2960C>G) n.2807C>G n.3791C>G c.*1870C>G (n.*1870C>G) c.2520C>G (p.Thr840=) c.2523C>G (p.Thr841=) n.4874C>G c.4056C>G (p.Thr1352=) c.4017C>G (p.Thr1339=) c.3948C>G (p.Thr1316=) c.4005C>G (p.Thr1335=) c.4014C>G (p.Thr1338=) c.3531C>G (p.Thr1177=) c.3261C>G (p.Thr1087=) n.3925C>G n.3910C>G n.4826C>G | |
1 | g.5863971G= | CA1151209212 | NPHP4 | c.4059C= (p.Thr1353=) n.3210C= c.*2960C= (n.*2960C=) n.2807C= n.3791C= c.*1870C= (n.*1870C=) c.2520C= (p.Thr840=) c.2523C= (p.Thr841=) n.4874C= c.4056C= (p.Thr1352=) c.4017C= (p.Thr1339=) c.3948C= (p.Thr1316=) c.4005C= (p.Thr1335=) c.4014C= (p.Thr1338=) c.3531C= (p.Thr1177=) c.3261C= (p.Thr1087=) n.3925C= n.3910C= n.4826C= | |
1 | g.5863971G>T | CA415787020 | NPHP4 | c.4059C>A (p.Thr1353=) n.3210C>A c.*2960C>A (n.*2960C>A) n.2807C>A n.3791C>A c.*1870C>A (n.*1870C>A) c.2520C>A (p.Thr840=) c.2523C>A (p.Thr841=) n.4874C>A c.4056C>A (p.Thr1352=) c.4017C>A (p.Thr1339=) c.3948C>A (p.Thr1316=) c.4005C>A (p.Thr1335=) c.4014C>A (p.Thr1338=) c.3531C>A (p.Thr1177=) c.3261C>A (p.Thr1087=) n.3925C>A n.3910C>A n.4826C>A | |
1 | g.5863972G>A | CA338049057 | NPHP4 | c.4058C>T (p.Thr1353Ile) n.3209C>T c.*2959C>T (n.*2959C>T) n.2806C>T n.3790C>T c.*1869C>T (n.*1869C>T) c.2519C>T (p.Thr840Ile) c.2522C>T (p.Thr841Ile) n.4873C>T c.4055C>T (p.Thr1352Ile) c.4016C>T (p.Thr1339Ile) c.3947C>T (p.Thr1316Ile) c.4004C>T (p.Thr1335Ile) c.4013C>T (p.Thr1338Ile) c.3530C>T (p.Thr1177Ile) c.3260C>T (p.Thr1087Ile) n.3924C>T n.3909C>T n.4825C>T | |
1 | g.5863972G>C | CA338049059 | NPHP4 | c.4058C>G (p.Thr1353Ser) n.3209C>G c.*2959C>G (n.*2959C>G) n.2806C>G n.3790C>G c.*1869C>G (n.*1869C>G) c.2519C>G (p.Thr840Ser) c.2522C>G (p.Thr841Ser) n.4873C>G c.4055C>G (p.Thr1352Ser) c.4016C>G (p.Thr1339Ser) c.3947C>G (p.Thr1316Ser) c.4004C>G (p.Thr1335Ser) c.4013C>G (p.Thr1338Ser) c.3530C>G (p.Thr1177Ser) c.3260C>G (p.Thr1087Ser) n.3924C>G n.3909C>G n.4825C>G | |
1 | g.5863972G>T | CA338049063 | NPHP4 | c.4058C>A (p.Thr1353Asn) n.3209C>A c.*2959C>A (n.*2959C>A) n.2806C>A n.3790C>A c.*1869C>A (n.*1869C>A) c.2519C>A (p.Thr840Asn) c.2522C>A (p.Thr841Asn) n.4873C>A c.4055C>A (p.Thr1352Asn) c.4016C>A (p.Thr1339Asn) c.3947C>A (p.Thr1316Asn) c.4004C>A (p.Thr1335Asn) c.4013C>A (p.Thr1338Asn) c.3530C>A (p.Thr1177Asn) c.3260C>A (p.Thr1087Asn) n.3924C>A n.3909C>A n.4825C>A | |
1 | g.5863973T>A | CA338049066 | NPHP4 | c.4057A>T (p.Thr1353Ser) n.3208A>T c.*2958A>T (n.*2958A>T) n.2805A>T n.3789A>T c.*1868A>T (n.*1868A>T) c.2518A>T (p.Thr840Ser) c.2521A>T (p.Thr841Ser) n.4872A>T c.4054A>T (p.Thr1352Ser) c.4015A>T (p.Thr1339Ser) c.3946A>T (p.Thr1316Ser) c.4003A>T (p.Thr1335Ser) c.4012A>T (p.Thr1338Ser) c.3529A>T (p.Thr1177Ser) c.3259A>T (p.Thr1087Ser) n.3923A>T n.3908A>T n.4824A>T | |
1 | g.5863973T>C | CA17124862 | NPHP4 | c.4057A>G (p.Thr1353Ala) n.3208A>G c.*2958A>G (n.*2958A>G) n.2805A>G n.3789A>G c.*1868A>G (n.*1868A>G) c.2518A>G (p.Thr840Ala) c.2521A>G (p.Thr841Ala) n.4872A>G c.4054A>G (p.Thr1352Ala) c.4015A>G (p.Thr1339Ala) c.3946A>G (p.Thr1316Ala) c.4003A>G (p.Thr1335Ala) c.4012A>G (p.Thr1338Ala) c.3529A>G (p.Thr1177Ala) c.3259A>G (p.Thr1087Ala) n.3923A>G n.3908A>G n.4824A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863973T>G | CA338049069 | NPHP4 | c.4057A>C (p.Thr1353Pro) n.3208A>C c.*2958A>C (n.*2958A>C) n.2805A>C n.3789A>C c.*1868A>C (n.*1868A>C) c.2518A>C (p.Thr840Pro) c.2521A>C (p.Thr841Pro) n.4872A>C c.4054A>C (p.Thr1352Pro) c.4015A>C (p.Thr1339Pro) c.3946A>C (p.Thr1316Pro) c.4003A>C (p.Thr1335Pro) c.4012A>C (p.Thr1338Pro) c.3529A>C (p.Thr1177Pro) c.3259A>C (p.Thr1087Pro) n.3923A>C n.3908A>C n.4824A>C | |
1 | g.5863973T= | CA1151209214 | NPHP4 | c.4057A= (p.Thr1353=) n.3208A= c.*2958A= (n.*2958A=) n.2805A= n.3789A= c.*1868A= (n.*1868A=) c.2518A= (p.Thr840=) c.2521A= (p.Thr841=) n.4872A= c.4054A= (p.Thr1352=) c.4015A= (p.Thr1339=) c.3946A= (p.Thr1316=) c.4003A= (p.Thr1335=) c.4012A= (p.Thr1338=) c.3529A= (p.Thr1177=) c.3259A= (p.Thr1087=) n.3923A= n.3908A= n.4824A= | |
1 | g.5863974G>A | CA415787021 | NPHP4 | c.4056C>T (p.Tyr1352=) n.3207C>T c.*2957C>T (n.*2957C>T) n.2804C>T n.3788C>T c.*1867C>T (n.*1867C>T) c.2517C>T (p.Tyr839=) c.2520C>T (p.Tyr840=) n.4871C>T c.4053C>T (p.Tyr1351=) c.4014C>T (p.Tyr1338=) c.3945C>T (p.Tyr1315=) c.4002C>T (p.Tyr1334=) c.4011C>T (p.Tyr1337=) c.3528C>T (p.Tyr1176=) c.3258C>T (p.Tyr1086=) n.3922C>T n.3907C>T n.4823C>T | |
1 | g.5863974G>C | CA338049071 | NPHP4 | c.4056C>G (p.Tyr1352Ter) n.3207C>G c.*2957C>G (n.*2957C>G) n.2804C>G n.3788C>G c.*1867C>G (n.*1867C>G) c.2517C>G (p.Tyr839Ter) c.2520C>G (p.Tyr840Ter) n.4871C>G c.4053C>G (p.Tyr1351Ter) c.4014C>G (p.Tyr1338Ter) c.3945C>G (p.Tyr1315Ter) c.4002C>G (p.Tyr1334Ter) c.4011C>G (p.Tyr1337Ter) c.3528C>G (p.Tyr1176Ter) c.3258C>G (p.Tyr1086Ter) n.3922C>G n.3907C>G n.4823C>G | |
1 | g.5863974G>T | CA338049073 | NPHP4 | c.4056C>A (p.Tyr1352Ter) n.3207C>A c.*2957C>A (n.*2957C>A) n.2804C>A n.3788C>A c.*1867C>A (n.*1867C>A) c.2517C>A (p.Tyr839Ter) c.2520C>A (p.Tyr840Ter) n.4871C>A c.4053C>A (p.Tyr1351Ter) c.4014C>A (p.Tyr1338Ter) c.3945C>A (p.Tyr1315Ter) c.4002C>A (p.Tyr1334Ter) c.4011C>A (p.Tyr1337Ter) c.3528C>A (p.Tyr1176Ter) c.3258C>A (p.Tyr1086Ter) n.3922C>A n.3907C>A n.4823C>A | gnomAD v4 |
1 | g.5863975T>A | CA338049075 | NPHP4 | c.4055A>T (p.Tyr1352Phe) n.3206A>T c.*2956A>T (n.*2956A>T) n.2803A>T n.3787A>T c.*1866A>T (n.*1866A>T) c.2516A>T (p.Tyr839Phe) c.2519A>T (p.Tyr840Phe) n.4870A>T c.4052A>T (p.Tyr1351Phe) c.4013A>T (p.Tyr1338Phe) c.3944A>T (p.Tyr1315Phe) c.4001A>T (p.Tyr1334Phe) c.4010A>T (p.Tyr1337Phe) c.3527A>T (p.Tyr1176Phe) c.3257A>T (p.Tyr1086Phe) n.3921A>T n.3906A>T n.4822A>T | |
1 | g.5863975T>C | CA553368 | NPHP4 | c.4055A>G (p.Tyr1352Cys) n.3206A>G c.*2956A>G (n.*2956A>G) n.2803A>G n.3787A>G c.*1866A>G (n.*1866A>G) c.2516A>G (p.Tyr839Cys) c.2519A>G (p.Tyr840Cys) n.4870A>G c.4052A>G (p.Tyr1351Cys) c.4013A>G (p.Tyr1338Cys) c.3944A>G (p.Tyr1315Cys) c.4001A>G (p.Tyr1334Cys) c.4010A>G (p.Tyr1337Cys) c.3527A>G (p.Tyr1176Cys) c.3257A>G (p.Tyr1086Cys) n.3921A>G n.3906A>G n.4822A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863975T>G | CA338049077 | NPHP4 | c.4055A>C (p.Tyr1352Ser) n.3206A>C c.*2956A>C (n.*2956A>C) n.2803A>C n.3787A>C c.*1866A>C (n.*1866A>C) c.2516A>C (p.Tyr839Ser) c.2519A>C (p.Tyr840Ser) n.4870A>C c.4052A>C (p.Tyr1351Ser) c.4013A>C (p.Tyr1338Ser) c.3944A>C (p.Tyr1315Ser) c.4001A>C (p.Tyr1334Ser) c.4010A>C (p.Tyr1337Ser) c.3527A>C (p.Tyr1176Ser) c.3257A>C (p.Tyr1086Ser) n.3921A>C n.3906A>C n.4822A>C | |
1 | g.5863975T= | CA1151209219 | NPHP4 | c.4055A= (p.Tyr1352=) n.3206A= c.*2956A= (n.*2956A=) n.2803A= n.3787A= c.*1866A= (n.*1866A=) c.2516A= (p.Tyr839=) c.2519A= (p.Tyr840=) n.4870A= c.4052A= (p.Tyr1351=) c.4013A= (p.Tyr1338=) c.3944A= (p.Tyr1315=) c.4001A= (p.Tyr1334=) c.4010A= (p.Tyr1337=) c.3527A= (p.Tyr1176=) c.3257A= (p.Tyr1086=) n.3921A= n.3906A= n.4822A= | |
1 | g.5863976A= | CA1151209223 | NPHP4 | c.4054T= (p.Tyr1352=) n.3205T= c.*2955T= (n.*2955T=) n.2802T= n.3786T= c.*1865T= (n.*1865T=) c.2515T= (p.Tyr839=) c.2518T= (p.Tyr840=) n.4869T= c.4051T= (p.Tyr1351=) c.4012T= (p.Tyr1338=) c.3943T= (p.Tyr1315=) c.4000T= (p.Tyr1334=) c.4009T= (p.Tyr1337=) c.3526T= (p.Tyr1176=) c.3256T= (p.Tyr1086=) n.3920T= n.3905T= n.4821T= | |
1 | g.5863976A>C | CA338049079 | NPHP4 | c.4054T>G (p.Tyr1352Asp) n.3205T>G c.*2955T>G (n.*2955T>G) n.2802T>G n.3786T>G c.*1865T>G (n.*1865T>G) c.2515T>G (p.Tyr839Asp) c.2518T>G (p.Tyr840Asp) n.4869T>G c.4051T>G (p.Tyr1351Asp) c.4012T>G (p.Tyr1338Asp) c.3943T>G (p.Tyr1315Asp) c.4000T>G (p.Tyr1334Asp) c.4009T>G (p.Tyr1337Asp) c.3526T>G (p.Tyr1176Asp) c.3256T>G (p.Tyr1086Asp) n.3920T>G n.3905T>G n.4821T>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.5863976A>G | CA338049081 | NPHP4 | c.4054T>C (p.Tyr1352His) n.3205T>C c.*2955T>C (n.*2955T>C) n.2802T>C n.3786T>C c.*1865T>C (n.*1865T>C) c.2515T>C (p.Tyr839His) c.2518T>C (p.Tyr840His) n.4869T>C c.4051T>C (p.Tyr1351His) c.4012T>C (p.Tyr1338His) c.3943T>C (p.Tyr1315His) c.4000T>C (p.Tyr1334His) c.4009T>C (p.Tyr1337His) c.3526T>C (p.Tyr1176His) c.3256T>C (p.Tyr1086His) n.3920T>C n.3905T>C n.4821T>C | |
1 | g.5863976A>T | CA338049082 | NPHP4 | c.4054T>A (p.Tyr1352Asn) n.3205T>A c.*2955T>A (n.*2955T>A) n.2802T>A n.3786T>A c.*1865T>A (n.*1865T>A) c.2515T>A (p.Tyr839Asn) c.2518T>A (p.Tyr840Asn) n.4869T>A c.4051T>A (p.Tyr1351Asn) c.4012T>A (p.Tyr1338Asn) c.3943T>A (p.Tyr1315Asn) c.4000T>A (p.Tyr1334Asn) c.4009T>A (p.Tyr1337Asn) c.3526T>A (p.Tyr1176Asn) c.3256T>A (p.Tyr1086Asn) n.3920T>A n.3905T>A n.4821T>A | |
1 | g.5863977G>A | CA415787022 | NPHP4 | c.4053C>T (p.Thr1351=) n.3204C>T c.*2954C>T (n.*2954C>T) n.2801C>T n.3785C>T c.*1864C>T (n.*1864C>T) c.2514C>T (p.Thr838=) c.2517C>T (p.Thr839=) n.4868C>T c.4050C>T (p.Thr1350=) c.4011C>T (p.Thr1337=) c.3942C>T (p.Thr1314=) c.3999C>T (p.Thr1333=) c.4008C>T (p.Thr1336=) c.3525C>T (p.Thr1175=) c.3255C>T (p.Thr1085=) n.3919C>T n.3904C>T n.4820C>T | |
1 | g.5863977G>C | CA415787023 | NPHP4 | c.4053C>G (p.Thr1351=) n.3204C>G c.*2954C>G (n.*2954C>G) n.2801C>G n.3785C>G c.*1864C>G (n.*1864C>G) c.2514C>G (p.Thr838=) c.2517C>G (p.Thr839=) n.4868C>G c.4050C>G (p.Thr1350=) c.4011C>G (p.Thr1337=) c.3942C>G (p.Thr1314=) c.3999C>G (p.Thr1333=) c.4008C>G (p.Thr1336=) c.3525C>G (p.Thr1175=) c.3255C>G (p.Thr1085=) n.3919C>G n.3904C>G n.4820C>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863977G= | CA1151209225 | NPHP4 | c.4053C= (p.Thr1351=) n.3204C= c.*2954C= (n.*2954C=) n.2801C= n.3785C= c.*1864C= (n.*1864C=) c.2514C= (p.Thr838=) c.2517C= (p.Thr839=) n.4868C= c.4050C= (p.Thr1350=) c.4011C= (p.Thr1337=) c.3942C= (p.Thr1314=) c.3999C= (p.Thr1333=) c.4008C= (p.Thr1336=) c.3525C= (p.Thr1175=) c.3255C= (p.Thr1085=) n.3919C= n.3904C= n.4820C= | |
1 | g.5863977G>T | CA415787024 | NPHP4 | c.4053C>A (p.Thr1351=) n.3204C>A c.*2954C>A (n.*2954C>A) n.2801C>A n.3785C>A c.*1864C>A (n.*1864C>A) c.2514C>A (p.Thr838=) c.2517C>A (p.Thr839=) n.4868C>A c.4050C>A (p.Thr1350=) c.4011C>A (p.Thr1337=) c.3942C>A (p.Thr1314=) c.3999C>A (p.Thr1333=) c.4008C>A (p.Thr1336=) c.3525C>A (p.Thr1175=) c.3255C>A (p.Thr1085=) n.3919C>A n.3904C>A n.4820C>A | gnomAD v4 |
1 | g.5863978G>A | CA338049084 | NPHP4 | c.4052C>T (p.Thr1351Ile) n.3203C>T c.*2953C>T (n.*2953C>T) n.2800C>T n.3784C>T c.*1863C>T (n.*1863C>T) c.2513C>T (p.Thr838Ile) c.2516C>T (p.Thr839Ile) n.4867C>T c.4049C>T (p.Thr1350Ile) c.4010C>T (p.Thr1337Ile) c.3941C>T (p.Thr1314Ile) c.3998C>T (p.Thr1333Ile) c.4007C>T (p.Thr1336Ile) c.3524C>T (p.Thr1175Ile) c.3254C>T (p.Thr1085Ile) n.3918C>T n.3903C>T n.4819C>T | |
1 | g.5863978G>C | CA338049085 | NPHP4 | c.4052C>G (p.Thr1351Ser) n.3203C>G c.*2953C>G (n.*2953C>G) n.2800C>G n.3784C>G c.*1863C>G (n.*1863C>G) c.2513C>G (p.Thr838Ser) c.2516C>G (p.Thr839Ser) n.4867C>G c.4049C>G (p.Thr1350Ser) c.4010C>G (p.Thr1337Ser) c.3941C>G (p.Thr1314Ser) c.3998C>G (p.Thr1333Ser) c.4007C>G (p.Thr1336Ser) c.3524C>G (p.Thr1175Ser) c.3254C>G (p.Thr1085Ser) n.3918C>G n.3903C>G n.4819C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.5863978G= | CA1151209228 | NPHP4 | c.4052C= (p.Thr1351=) n.3203C= c.*2953C= (n.*2953C=) n.2800C= n.3784C= c.*1863C= (n.*1863C=) c.2513C= (p.Thr838=) c.2516C= (p.Thr839=) n.4867C= c.4049C= (p.Thr1350=) c.4010C= (p.Thr1337=) c.3941C= (p.Thr1314=) c.3998C= (p.Thr1333=) c.4007C= (p.Thr1336=) c.3524C= (p.Thr1175=) c.3254C= (p.Thr1085=) n.3918C= n.3903C= n.4819C= | |
1 | g.5863978G>T | CA338049088 | NPHP4 | c.4052C>A (p.Thr1351Asn) n.3203C>A c.*2953C>A (n.*2953C>A) n.2800C>A n.3784C>A c.*1863C>A (n.*1863C>A) c.2513C>A (p.Thr838Asn) c.2516C>A (p.Thr839Asn) n.4867C>A c.4049C>A (p.Thr1350Asn) c.4010C>A (p.Thr1337Asn) c.3941C>A (p.Thr1314Asn) c.3998C>A (p.Thr1333Asn) c.4007C>A (p.Thr1336Asn) c.3524C>A (p.Thr1175Asn) c.3254C>A (p.Thr1085Asn) n.3918C>A n.3903C>A n.4819C>A | |
1 | g.5863979T>A | CA338049089 | NPHP4 | c.4051A>T (p.Thr1351Ser) n.3202A>T c.*2952A>T (n.*2952A>T) n.2799A>T n.3783A>T c.*1862A>T (n.*1862A>T) c.2512A>T (p.Thr838Ser) c.2515A>T (p.Thr839Ser) n.4866A>T c.4048A>T (p.Thr1350Ser) c.4009A>T (p.Thr1337Ser) c.3940A>T (p.Thr1314Ser) c.3997A>T (p.Thr1333Ser) c.4006A>T (p.Thr1336Ser) c.3523A>T (p.Thr1175Ser) c.3253A>T (p.Thr1085Ser) n.3917A>T n.3902A>T n.4818A>T | |
1 | g.5863979T>C | CA338049091 | NPHP4 | c.4051A>G (p.Thr1351Ala) n.3202A>G c.*2952A>G (n.*2952A>G) n.2799A>G n.3783A>G c.*1862A>G (n.*1862A>G) c.2512A>G (p.Thr838Ala) c.2515A>G (p.Thr839Ala) n.4866A>G c.4048A>G (p.Thr1350Ala) c.4009A>G (p.Thr1337Ala) c.3940A>G (p.Thr1314Ala) c.3997A>G (p.Thr1333Ala) c.4006A>G (p.Thr1336Ala) c.3523A>G (p.Thr1175Ala) c.3253A>G (p.Thr1085Ala) n.3917A>G n.3902A>G n.4818A>G | |
1 | g.5863979T>G | CA553369 | NPHP4 | c.4051A>C (p.Thr1351Pro) n.3202A>C c.*2952A>C (n.*2952A>C) n.2799A>C n.3783A>C c.*1862A>C (n.*1862A>C) c.2512A>C (p.Thr838Pro) c.2515A>C (p.Thr839Pro) n.4866A>C c.4048A>C (p.Thr1350Pro) c.4009A>C (p.Thr1337Pro) c.3940A>C (p.Thr1314Pro) c.3997A>C (p.Thr1333Pro) c.4006A>C (p.Thr1336Pro) c.3523A>C (p.Thr1175Pro) c.3253A>C (p.Thr1085Pro) n.3917A>C n.3902A>C n.4818A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.5863979T= | CA1148286732 | NPHP4 | c.4051A= (p.Thr1351=) n.3202A= c.*2952A= (n.*2952A=) n.2799A= n.3783A= c.*1862A= (n.*1862A=) c.2512A= (p.Thr838=) c.2515A= (p.Thr839=) n.4866A= c.4048A= (p.Thr1350=) c.4009A= (p.Thr1337=) c.3940A= (p.Thr1314=) c.3997A= (p.Thr1333=) c.4006A= (p.Thr1336=) c.3523A= (p.Thr1175=) c.3253A= (p.Thr1085=) n.3917A= n.3902A= n.4818A= | |
1 | g.5863980del | CA2642901904 | NPHP4 | c.4050del (p.Thr1351ProfsTer?) n.3201del c.*2951del (n.*2951del) n.2798del n.3782del c.*1861del (n.*1861del) c.2511del (p.Thr838ProfsTer?) c.2514del (p.Thr839ProfsTer?) n.4865del c.4047del (p.Thr1350ProfsTer?) c.4008del (p.Thr1337ProfsTer?) c.3939del (p.Thr1314ProfsTer?) c.3996del (p.Thr1333ProfsTer?) c.4005del (p.Thr1336ProfsTer?) c.3522del (p.Thr1175ProfsTer?) c.3252del (p.Thr1085ProfsTer?) n.3916del n.3901del n.4817del | gnomAD v4 |
1 | g.5863980G>A | CA415787025 | NPHP4 | c.4050C>T (p.Ile1350=) n.3201C>T c.*2951C>T (n.*2951C>T) n.2798C>T n.3782C>T c.*1861C>T (n.*1861C>T) c.2511C>T (p.Ile837=) c.2514C>T (p.Ile838=) n.4865C>T c.4047C>T (p.Ile1349=) c.4008C>T (p.Ile1336=) c.3939C>T (p.Ile1313=) c.3996C>T (p.Ile1332=) c.4005C>T (p.Ile1335=) c.3522C>T (p.Ile1174=) c.3252C>T (p.Ile1084=) n.3916C>T n.3901C>T n.4817C>T | |
1 | g.5863980G>C | CA338049094 | NPHP4 | c.4050C>G (p.Ile1350Met) n.3201C>G c.*2951C>G (n.*2951C>G) n.2798C>G n.3782C>G c.*1861C>G (n.*1861C>G) c.2511C>G (p.Ile837Met) c.2514C>G (p.Ile838Met) n.4865C>G c.4047C>G (p.Ile1349Met) c.4008C>G (p.Ile1336Met) c.3939C>G (p.Ile1313Met) c.3996C>G (p.Ile1332Met) c.4005C>G (p.Ile1335Met) c.3522C>G (p.Ile1174Met) c.3252C>G (p.Ile1084Met) n.3916C>G n.3901C>G n.4817C>G | |
1 | g.5863980G= | CA1151209243 | NPHP4 | c.4050C= (p.Ile1350=) n.3201C= c.*2951C= (n.*2951C=) n.2798C= n.3782C= c.*1861C= (n.*1861C=) c.2511C= (p.Ile837=) c.2514C= (p.Ile838=) n.4865C= c.4047C= (p.Ile1349=) c.4008C= (p.Ile1336=) c.3939C= (p.Ile1313=) c.3996C= (p.Ile1332=) c.4005C= (p.Ile1335=) c.3522C= (p.Ile1174=) c.3252C= (p.Ile1084=) n.3916C= n.3901C= n.4817C= | |
1 | g.5863980G>T | CA553370 | NPHP4 | c.4050C>A (p.Ile1350=) n.3201C>A c.*2951C>A (n.*2951C>A) n.2798C>A n.3782C>A c.*1861C>A (n.*1861C>A) c.2511C>A (p.Ile837=) c.2514C>A (p.Ile838=) n.4865C>A c.4047C>A (p.Ile1349=) c.4008C>A (p.Ile1336=) c.3939C>A (p.Ile1313=) c.3996C>A (p.Ile1332=) c.4005C>A (p.Ile1335=) c.3522C>A (p.Ile1174=) c.3252C>A (p.Ile1084=) n.3916C>A n.3901C>A n.4817C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863981A>C | CA338049096 | NPHP4 | c.4049T>G (p.Ile1350Ser) n.3200T>G c.*2950T>G (n.*2950T>G) n.2797T>G n.3781T>G c.*1860T>G (n.*1860T>G) c.2510T>G (p.Ile837Ser) c.2513T>G (p.Ile838Ser) n.4864T>G c.4046T>G (p.Ile1349Ser) c.4007T>G (p.Ile1336Ser) c.3938T>G (p.Ile1313Ser) c.3995T>G (p.Ile1332Ser) c.4004T>G (p.Ile1335Ser) c.3521T>G (p.Ile1174Ser) c.3251T>G (p.Ile1084Ser) n.3915T>G n.3900T>G n.4816T>G | |
1 | g.5863981A>G | CA338049098 | NPHP4 | c.4049T>C (p.Ile1350Thr) n.3200T>C c.*2950T>C (n.*2950T>C) n.2797T>C n.3781T>C c.*1860T>C (n.*1860T>C) c.2510T>C (p.Ile837Thr) c.2513T>C (p.Ile838Thr) n.4864T>C c.4046T>C (p.Ile1349Thr) c.4007T>C (p.Ile1336Thr) c.3938T>C (p.Ile1313Thr) c.3995T>C (p.Ile1332Thr) c.4004T>C (p.Ile1335Thr) c.3521T>C (p.Ile1174Thr) c.3251T>C (p.Ile1084Thr) n.3915T>C n.3900T>C n.4816T>C | |
1 | g.5863981A>T | CA338049100 | NPHP4 | c.4049T>A (p.Ile1350Asn) n.3200T>A c.*2950T>A (n.*2950T>A) n.2797T>A n.3781T>A c.*1860T>A (n.*1860T>A) c.2510T>A (p.Ile837Asn) c.2513T>A (p.Ile838Asn) n.4864T>A c.4046T>A (p.Ile1349Asn) c.4007T>A (p.Ile1336Asn) c.3938T>A (p.Ile1313Asn) c.3995T>A (p.Ile1332Asn) c.4004T>A (p.Ile1335Asn) c.3521T>A (p.Ile1174Asn) c.3251T>A (p.Ile1084Asn) n.3915T>A n.3900T>A n.4816T>A | |
1 | g.5863982T>A | CA338049102 | NPHP4 | c.4048A>T (p.Ile1350Phe) n.3199A>T c.*2949A>T (n.*2949A>T) n.2796A>T n.3780A>T c.*1859A>T (n.*1859A>T) c.2509A>T (p.Ile837Phe) c.2512A>T (p.Ile838Phe) n.4863A>T c.4045A>T (p.Ile1349Phe) c.4006A>T (p.Ile1336Phe) c.3937A>T (p.Ile1313Phe) c.3994A>T (p.Ile1332Phe) c.4003A>T (p.Ile1335Phe) c.3520A>T (p.Ile1174Phe) c.3250A>T (p.Ile1084Phe) n.3914A>T n.3899A>T n.4815A>T | |
1 | g.5863982T>C | CA338049104 | NPHP4 | c.4048A>G (p.Ile1350Val) n.3199A>G c.*2949A>G (n.*2949A>G) n.2796A>G n.3780A>G c.*1859A>G (n.*1859A>G) c.2509A>G (p.Ile837Val) c.2512A>G (p.Ile838Val) n.4863A>G c.4045A>G (p.Ile1349Val) c.4006A>G (p.Ile1336Val) c.3937A>G (p.Ile1313Val) c.3994A>G (p.Ile1332Val) c.4003A>G (p.Ile1335Val) c.3520A>G (p.Ile1174Val) c.3250A>G (p.Ile1084Val) n.3914A>G n.3899A>G n.4815A>G | gnomAD v4 |
1 | g.5863982T>G | CA338049105 | NPHP4 | c.4048A>C (p.Ile1350Leu) n.3199A>C c.*2949A>C (n.*2949A>C) n.2796A>C n.3780A>C c.*1859A>C (n.*1859A>C) c.2509A>C (p.Ile837Leu) c.2512A>C (p.Ile838Leu) n.4863A>C c.4045A>C (p.Ile1349Leu) c.4006A>C (p.Ile1336Leu) c.3937A>C (p.Ile1313Leu) c.3994A>C (p.Ile1332Leu) c.4003A>C (p.Ile1335Leu) c.3520A>C (p.Ile1174Leu) c.3250A>C (p.Ile1084Leu) n.3914A>C n.3899A>C n.4815A>C | |
1 | g.5863983C>A | CA338049106 | NPHP4 | c.4047G>T (p.Arg1349Ser) n.3198G>T c.*2948G>T (n.*2948G>T) n.2795G>T n.3779G>T c.*1858G>T (n.*1858G>T) c.2508G>T (p.Arg836Ser) c.2511G>T (p.Arg837Ser) n.4862G>T c.4044G>T (p.Arg1348Ser) c.4005G>T (p.Arg1335Ser) c.3936G>T (p.Arg1312Ser) c.3993G>T (p.Arg1331Ser) c.4002G>T (p.Arg1334Ser) c.3519G>T (p.Arg1173Ser) c.3249G>T (p.Arg1083Ser) n.3913G>T n.3898G>T n.4814G>T | |
1 | g.5863983C>G | CA338049108 | NPHP4 | c.4047G>C (p.Arg1349Ser) n.3198G>C c.*2948G>C (n.*2948G>C) n.2795G>C n.3779G>C c.*1858G>C (n.*1858G>C) c.2508G>C (p.Arg836Ser) c.2511G>C (p.Arg837Ser) n.4862G>C c.4044G>C (p.Arg1348Ser) c.4005G>C (p.Arg1335Ser) c.3936G>C (p.Arg1312Ser) c.3993G>C (p.Arg1331Ser) c.4002G>C (p.Arg1334Ser) c.3519G>C (p.Arg1173Ser) c.3249G>C (p.Arg1083Ser) n.3913G>C n.3898G>C n.4814G>C | gnomAD v4 |
1 | g.5863983C>T | CA415787026 | NPHP4 | c.4047G>A (p.Arg1349=) n.3198G>A c.*2948G>A (n.*2948G>A) n.2795G>A n.3779G>A c.*1858G>A (n.*1858G>A) c.2508G>A (p.Arg836=) c.2511G>A (p.Arg837=) n.4862G>A c.4044G>A (p.Arg1348=) c.4005G>A (p.Arg1335=) c.3936G>A (p.Arg1312=) c.3993G>A (p.Arg1331=) c.4002G>A (p.Arg1334=) c.3519G>A (p.Arg1173=) c.3249G>A (p.Arg1083=) n.3913G>A n.3898G>A n.4814G>A | |
1 | g.5863984C>A | CA338049110 | NPHP4 | c.4046G>T (p.Arg1349Met) n.3197G>T c.*2947G>T (n.*2947G>T) n.2794G>T n.3778G>T c.*1857G>T (n.*1857G>T) c.2507G>T (p.Arg836Met) c.2510G>T (p.Arg837Met) n.4861G>T c.4043G>T (p.Arg1348Met) c.4004G>T (p.Arg1335Met) c.3935G>T (p.Arg1312Met) c.3992G>T (p.Arg1331Met) c.4001G>T (p.Arg1334Met) c.3518G>T (p.Arg1173Met) c.3248G>T (p.Arg1083Met) n.3912G>T n.3897G>T n.4813G>T | |
1 | g.5863984C>G | CA338049112 | NPHP4 | c.4046G>C (p.Arg1349Thr) n.3197G>C c.*2947G>C (n.*2947G>C) n.2794G>C n.3778G>C c.*1857G>C (n.*1857G>C) c.2507G>C (p.Arg836Thr) c.2510G>C (p.Arg837Thr) n.4861G>C c.4043G>C (p.Arg1348Thr) c.4004G>C (p.Arg1335Thr) c.3935G>C (p.Arg1312Thr) c.3992G>C (p.Arg1331Thr) c.4001G>C (p.Arg1334Thr) c.3518G>C (p.Arg1173Thr) c.3248G>C (p.Arg1083Thr) n.3912G>C n.3897G>C n.4813G>C | |
1 | g.5863984C>T | CA338049113 | NPHP4 | c.4046G>A (p.Arg1349Lys) n.3197G>A c.*2947G>A (n.*2947G>A) n.2794G>A n.3778G>A c.*1857G>A (n.*1857G>A) c.2507G>A (p.Arg836Lys) c.2510G>A (p.Arg837Lys) n.4861G>A c.4043G>A (p.Arg1348Lys) c.4004G>A (p.Arg1335Lys) c.3935G>A (p.Arg1312Lys) c.3992G>A (p.Arg1331Lys) c.4001G>A (p.Arg1334Lys) c.3518G>A (p.Arg1173Lys) c.3248G>A (p.Arg1083Lys) n.3912G>A n.3897G>A n.4813G>A | ClinVar dbSNP gnomAD v4 |
1 | g.5863984_5863999delinsCTCTTGTTGACACCCT | CA1151209251 | NPHP4 | c.4031_4046delinsAGGGTGTCAACAAGAG (p.Lys1344=) n.3182_3197delinsAGGGTGTCAACAAGAG c.*2932_*2947delinsAGGGTGTCAACAAGAG (n.*2932_*2947delinsAGGGTGTCAACAAGAG) n.2779_2794delinsAGGGTGTCAACAAGAG n.3763_3778delinsAGGGTGTCAACAAGAG c.*1842_*1857delinsAGGGTGTCAACAAGAG (n.*1842_*1857delinsAGGGTGTCAACAAGAG) c.2492_2507delinsAGGGTGTCAACAAGAG (p.Lys831=) c.2495_2510delinsAGGGTGTCAACAAGAG (p.Lys832=) n.4846_4861delinsAGGGTGTCAACAAGAG c.4028_4043delinsAGGGTGTCAACAAGAG (p.Lys1343=) c.3989_4004delinsAGGGTGTCAACAAGAG (p.Lys1330=) c.3920_3935delinsAGGGTGTCAACAAGAG (p.Lys1307=) c.3977_3992delinsAGGGTGTCAACAAGAG (p.Lys1326=) c.3986_4001delinsAGGGTGTCAACAAGAG (p.Lys1329=) c.3503_3518delinsAGGGTGTCAACAAGAG (p.Lys1168=) c.3233_3248delinsAGGGTGTCAACAAGAG (p.Lys1078=) n.3897_3912delinsAGGGTGTCAACAAGAG n.3882_3897delinsAGGGTGTCAACAAGAG n.4798_4813delinsAGGGTGTCAACAAGAG | |
1 | g.5863985T>A | CA338049116 | NPHP4 | c.4045A>T (p.Arg1349Trp) n.3196A>T c.*2946A>T (n.*2946A>T) n.2793A>T n.3777A>T c.*1856A>T (n.*1856A>T) c.2506A>T (p.Arg836Trp) c.2509A>T (p.Arg837Trp) n.4860A>T c.4042A>T (p.Arg1348Trp) c.4003A>T (p.Arg1335Trp) c.3934A>T (p.Arg1312Trp) c.3991A>T (p.Arg1331Trp) c.4000A>T (p.Arg1334Trp) c.3517A>T (p.Arg1173Trp) c.3247A>T (p.Arg1083Trp) n.3911A>T n.3896A>T n.4812A>T | |
1 | g.5863985T>C | CA338049118 | NPHP4 | c.4045A>G (p.Arg1349Gly) n.3196A>G c.*2946A>G (n.*2946A>G) n.2793A>G n.3777A>G c.*1856A>G (n.*1856A>G) c.2506A>G (p.Arg836Gly) c.2509A>G (p.Arg837Gly) n.4860A>G c.4042A>G (p.Arg1348Gly) c.4003A>G (p.Arg1335Gly) c.3934A>G (p.Arg1312Gly) c.3991A>G (p.Arg1331Gly) c.4000A>G (p.Arg1334Gly) c.3517A>G (p.Arg1173Gly) c.3247A>G (p.Arg1083Gly) n.3911A>G n.3896A>G n.4812A>G | |
1 | g.5863985T>G | CA415787027 | NPHP4 | c.4045A>C (p.Arg1349=) n.3196A>C c.*2946A>C (n.*2946A>C) n.2793A>C n.3777A>C c.*1856A>C (n.*1856A>C) c.2506A>C (p.Arg836=) c.2509A>C (p.Arg837=) n.4860A>C c.4042A>C (p.Arg1348=) c.4003A>C (p.Arg1335=) c.3934A>C (p.Arg1312=) c.3991A>C (p.Arg1331=) c.4000A>C (p.Arg1334=) c.3517A>C (p.Arg1173=) c.3247A>C (p.Arg1083=) n.3911A>C n.3896A>C n.4812A>C | |
1 | g.5863987_5864001del | CA1151209254 | NPHP4 | c.4031_4045del (p.Lys1344_Lys1348del) n.3182_3196del c.*2932_*2946del (n.*2932_*2946del) n.2779_2793del n.3763_3777del c.*1842_*1856del (n.*1842_*1856del) c.2492_2506del (p.Lys831_Lys835del) c.2495_2509del (p.Lys832_Lys836del) n.4846_4860del c.4028_4042del (p.Lys1343_Lys1347del) c.3989_4003del (p.Lys1330_Lys1334del) c.3920_3934del (p.Lys1307_Lys1311del) c.3977_3991del (p.Lys1326_Lys1330del) c.3986_4000del (p.Lys1329_Lys1333del) c.3503_3517del (p.Lys1168_Lys1172del) c.3233_3247del (p.Lys1078_Lys1082del) n.3897_3911del n.3882_3896del n.4798_4812del | dbSNP |
1 | g.5863986C>A | CA338049119 | NPHP4 | c.4044G>T (p.Lys1348Asn) n.3195G>T c.*2945G>T (n.*2945G>T) n.2792G>T n.3776G>T c.*1855G>T (n.*1855G>T) c.2505G>T (p.Lys835Asn) c.2508G>T (p.Lys836Asn) n.4859G>T c.4041G>T (p.Lys1347Asn) c.4002G>T (p.Lys1334Asn) c.3933G>T (p.Lys1311Asn) c.3990G>T (p.Lys1330Asn) c.3999G>T (p.Lys1333Asn) c.3516G>T (p.Lys1172Asn) c.3246G>T (p.Lys1082Asn) n.3910G>T n.3895G>T n.4811G>T | |
1 | g.5863986C>G | CA338049121 | NPHP4 | c.4044G>C (p.Lys1348Asn) n.3195G>C c.*2945G>C (n.*2945G>C) n.2792G>C n.3776G>C c.*1855G>C (n.*1855G>C) c.2505G>C (p.Lys835Asn) c.2508G>C (p.Lys836Asn) n.4859G>C c.4041G>C (p.Lys1347Asn) c.4002G>C (p.Lys1334Asn) c.3933G>C (p.Lys1311Asn) c.3990G>C (p.Lys1330Asn) c.3999G>C (p.Lys1333Asn) c.3516G>C (p.Lys1172Asn) c.3246G>C (p.Lys1082Asn) n.3910G>C n.3895G>C n.4811G>C | |
1 | g.5863986C>T | CA415787028 | NPHP4 | c.4044G>A (p.Lys1348=) n.3195G>A c.*2945G>A (n.*2945G>A) n.2792G>A n.3776G>A c.*1855G>A (n.*1855G>A) c.2505G>A (p.Lys835=) c.2508G>A (p.Lys836=) n.4859G>A c.4041G>A (p.Lys1347=) c.4002G>A (p.Lys1334=) c.3933G>A (p.Lys1311=) c.3990G>A (p.Lys1330=) c.3999G>A (p.Lys1333=) c.3516G>A (p.Lys1172=) c.3246G>A (p.Lys1082=) n.3910G>A n.3895G>A n.4811G>A | |
1 | g.5863987T>A | CA338049123 | NPHP4 | c.4043A>T (p.Lys1348Met) n.3194A>T c.*2944A>T (n.*2944A>T) n.2791A>T n.3775A>T c.*1854A>T (n.*1854A>T) c.2504A>T (p.Lys835Met) c.2507A>T (p.Lys836Met) n.4858A>T c.4040A>T (p.Lys1347Met) c.4001A>T (p.Lys1334Met) c.3932A>T (p.Lys1311Met) c.3989A>T (p.Lys1330Met) c.3998A>T (p.Lys1333Met) c.3515A>T (p.Lys1172Met) c.3245A>T (p.Lys1082Met) n.3909A>T n.3894A>T n.4810A>T | |
1 | g.5863987T>C | CA338049125 | NPHP4 | c.4043A>G (p.Lys1348Arg) n.3194A>G c.*2944A>G (n.*2944A>G) n.2791A>G n.3775A>G c.*1854A>G (n.*1854A>G) c.2504A>G (p.Lys835Arg) c.2507A>G (p.Lys836Arg) n.4858A>G c.4040A>G (p.Lys1347Arg) c.4001A>G (p.Lys1334Arg) c.3932A>G (p.Lys1311Arg) c.3989A>G (p.Lys1330Arg) c.3998A>G (p.Lys1333Arg) c.3515A>G (p.Lys1172Arg) c.3245A>G (p.Lys1082Arg) n.3909A>G n.3894A>G n.4810A>G | |
1 | g.5863987T>G | CA338049126 | NPHP4 | c.4043A>C (p.Lys1348Thr) n.3194A>C c.*2944A>C (n.*2944A>C) n.2791A>C n.3775A>C c.*1854A>C (n.*1854A>C) c.2504A>C (p.Lys835Thr) c.2507A>C (p.Lys836Thr) n.4858A>C c.4040A>C (p.Lys1347Thr) c.4001A>C (p.Lys1334Thr) c.3932A>C (p.Lys1311Thr) c.3989A>C (p.Lys1330Thr) c.3998A>C (p.Lys1333Thr) c.3515A>C (p.Lys1172Thr) c.3245A>C (p.Lys1082Thr) n.3909A>C n.3894A>C n.4810A>C | |
1 | g.5863988T>A | CA338049129 | NPHP4 | c.4042A>T (p.Lys1348Ter) n.3193A>T c.*2943A>T (n.*2943A>T) n.2790A>T n.3774A>T c.*1853A>T (n.*1853A>T) c.2503A>T (p.Lys835Ter) c.2506A>T (p.Lys836Ter) n.4857A>T c.4039A>T (p.Lys1347Ter) c.4000A>T (p.Lys1334Ter) c.3931A>T (p.Lys1311Ter) c.3988A>T (p.Lys1330Ter) c.3997A>T (p.Lys1333Ter) c.3514A>T (p.Lys1172Ter) c.3244A>T (p.Lys1082Ter) n.3908A>T n.3893A>T n.4809A>T | |
1 | g.5863988T>C | CA338049130 | NPHP4 | c.4042A>G (p.Lys1348Glu) n.3193A>G c.*2943A>G (n.*2943A>G) n.2790A>G n.3774A>G c.*1853A>G (n.*1853A>G) c.2503A>G (p.Lys835Glu) c.2506A>G (p.Lys836Glu) n.4857A>G c.4039A>G (p.Lys1347Glu) c.4000A>G (p.Lys1334Glu) c.3931A>G (p.Lys1311Glu) c.3988A>G (p.Lys1330Glu) c.3997A>G (p.Lys1333Glu) c.3514A>G (p.Lys1172Glu) c.3244A>G (p.Lys1082Glu) n.3908A>G n.3893A>G n.4809A>G | |
1 | g.5863988T>G | CA338049132 | NPHP4 | c.4042A>C (p.Lys1348Gln) n.3193A>C c.*2943A>C (n.*2943A>C) n.2790A>C n.3774A>C c.*1853A>C (n.*1853A>C) c.2503A>C (p.Lys835Gln) c.2506A>C (p.Lys836Gln) n.4857A>C c.4039A>C (p.Lys1347Gln) c.4000A>C (p.Lys1334Gln) c.3931A>C (p.Lys1311Gln) c.3988A>C (p.Lys1330Gln) c.3997A>C (p.Lys1333Gln) c.3514A>C (p.Lys1172Gln) c.3244A>C (p.Lys1082Gln) n.3908A>C n.3893A>C n.4809A>C | |
1 | g.5863989G>A | CA415787029 | NPHP4 | c.4041C>T (p.Asn1347=) n.3192C>T c.*2942C>T (n.*2942C>T) n.2789C>T n.3773C>T c.*1852C>T (n.*1852C>T) c.2502C>T (p.Asn834=) c.2505C>T (p.Asn835=) n.4856C>T c.4038C>T (p.Asn1346=) c.3999C>T (p.Asn1333=) c.3930C>T (p.Asn1310=) c.3987C>T (p.Asn1329=) c.3996C>T (p.Asn1332=) c.3513C>T (p.Asn1171=) c.3243C>T (p.Asn1081=) n.3907C>T n.3892C>T n.4808C>T | |
1 | g.5863989G>C | CA338049135 | NPHP4 | c.4041C>G (p.Asn1347Lys) n.3192C>G c.*2942C>G (n.*2942C>G) n.2789C>G n.3773C>G c.*1852C>G (n.*1852C>G) c.2502C>G (p.Asn834Lys) c.2505C>G (p.Asn835Lys) n.4856C>G c.4038C>G (p.Asn1346Lys) c.3999C>G (p.Asn1333Lys) c.3930C>G (p.Asn1310Lys) c.3987C>G (p.Asn1329Lys) c.3996C>G (p.Asn1332Lys) c.3513C>G (p.Asn1171Lys) c.3243C>G (p.Asn1081Lys) n.3907C>G n.3892C>G n.4808C>G | |
1 | g.5863989G= | CA1151209256 | NPHP4 | c.4041C= (p.Asn1347=) n.3192C= c.*2942C= (n.*2942C=) n.2789C= n.3773C= c.*1852C= (n.*1852C=) c.2502C= (p.Asn834=) c.2505C= (p.Asn835=) n.4856C= c.4038C= (p.Asn1346=) c.3999C= (p.Asn1333=) c.3930C= (p.Asn1310=) c.3987C= (p.Asn1329=) c.3996C= (p.Asn1332=) c.3513C= (p.Asn1171=) c.3243C= (p.Asn1081=) n.3907C= n.3892C= n.4808C= | |
1 | g.5863989G>T | CA338049133 | NPHP4 | c.4041C>A (p.Asn1347Lys) n.3192C>A c.*2942C>A (n.*2942C>A) n.2789C>A n.3773C>A c.*1852C>A (n.*1852C>A) c.2502C>A (p.Asn834Lys) c.2505C>A (p.Asn835Lys) n.4856C>A c.4038C>A (p.Asn1346Lys) c.3999C>A (p.Asn1333Lys) c.3930C>A (p.Asn1310Lys) c.3987C>A (p.Asn1329Lys) c.3996C>A (p.Asn1332Lys) c.3513C>A (p.Asn1171Lys) c.3243C>A (p.Asn1081Lys) n.3907C>A n.3892C>A n.4808C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.5863990T>A | CA338049137 | NPHP4 | c.4040A>T (p.Asn1347Ile) n.3191A>T c.*2941A>T (n.*2941A>T) n.2788A>T n.3772A>T c.*1851A>T (n.*1851A>T) c.2501A>T (p.Asn834Ile) c.2504A>T (p.Asn835Ile) n.4855A>T c.4037A>T (p.Asn1346Ile) c.3998A>T (p.Asn1333Ile) c.3929A>T (p.Asn1310Ile) c.3986A>T (p.Asn1329Ile) c.3995A>T (p.Asn1332Ile) c.3512A>T (p.Asn1171Ile) c.3242A>T (p.Asn1081Ile) n.3906A>T n.3891A>T n.4807A>T | |
1 | g.5863990T>C | CA338049139 | NPHP4 | c.4040A>G (p.Asn1347Ser) n.3191A>G c.*2941A>G (n.*2941A>G) n.2788A>G n.3772A>G c.*1851A>G (n.*1851A>G) c.2501A>G (p.Asn834Ser) c.2504A>G (p.Asn835Ser) n.4855A>G c.4037A>G (p.Asn1346Ser) c.3998A>G (p.Asn1333Ser) c.3929A>G (p.Asn1310Ser) c.3986A>G (p.Asn1329Ser) c.3995A>G (p.Asn1332Ser) c.3512A>G (p.Asn1171Ser) c.3242A>G (p.Asn1081Ser) n.3906A>G n.3891A>G n.4807A>G | |
1 | g.5863990T>G | CA338049140 | NPHP4 | c.4040A>C (p.Asn1347Thr) n.3191A>C c.*2941A>C (n.*2941A>C) n.2788A>C n.3772A>C c.*1851A>C (n.*1851A>C) c.2501A>C (p.Asn834Thr) c.2504A>C (p.Asn835Thr) n.4855A>C c.4037A>C (p.Asn1346Thr) c.3998A>C (p.Asn1333Thr) c.3929A>C (p.Asn1310Thr) c.3986A>C (p.Asn1329Thr) c.3995A>C (p.Asn1332Thr) c.3512A>C (p.Asn1171Thr) c.3242A>C (p.Asn1081Thr) n.3906A>C n.3891A>C n.4807A>C | |
1 | g.5863991T>A | CA338049142 | NPHP4 | c.4039A>T (p.Asn1347Tyr) n.3190A>T c.*2940A>T (n.*2940A>T) n.2787A>T n.3771A>T c.*1850A>T (n.*1850A>T) c.2500A>T (p.Asn834Tyr) c.2503A>T (p.Asn835Tyr) n.4854A>T c.4036A>T (p.Asn1346Tyr) c.3997A>T (p.Asn1333Tyr) c.3928A>T (p.Asn1310Tyr) c.3985A>T (p.Asn1329Tyr) c.3994A>T (p.Asn1332Tyr) c.3511A>T (p.Asn1171Tyr) c.3241A>T (p.Asn1081Tyr) n.3905A>T n.3890A>T n.4806A>T | |
1 | g.5863991T>C | CA338049144 | NPHP4 | c.4039A>G (p.Asn1347Asp) n.3190A>G c.*2940A>G (n.*2940A>G) n.2787A>G n.3771A>G c.*1850A>G (n.*1850A>G) c.2500A>G (p.Asn834Asp) c.2503A>G (p.Asn835Asp) n.4854A>G c.4036A>G (p.Asn1346Asp) c.3997A>G (p.Asn1333Asp) c.3928A>G (p.Asn1310Asp) c.3985A>G (p.Asn1329Asp) c.3994A>G (p.Asn1332Asp) c.3511A>G (p.Asn1171Asp) c.3241A>G (p.Asn1081Asp) n.3905A>G n.3890A>G n.4806A>G | COSMIC |
1 | g.5863991T>G | CA338049146 | NPHP4 | c.4039A>C (p.Asn1347His) n.3190A>C c.*2940A>C (n.*2940A>C) n.2787A>C n.3771A>C c.*1850A>C (n.*1850A>C) c.2500A>C (p.Asn834His) c.2503A>C (p.Asn835His) n.4854A>C c.4036A>C (p.Asn1346His) c.3997A>C (p.Asn1333His) c.3928A>C (p.Asn1310His) c.3985A>C (p.Asn1329His) c.3994A>C (p.Asn1332His) c.3511A>C (p.Asn1171His) c.3241A>C (p.Asn1081His) n.3905A>C n.3890A>C n.4806A>C | |
1 | g.5863992G>A | CA415787030 | NPHP4 | c.4038C>T (p.Val1346=) n.3189C>T c.*2939C>T (n.*2939C>T) n.2786C>T n.3770C>T c.*1849C>T (n.*1849C>T) c.2499C>T (p.Val833=) c.2502C>T (p.Val834=) n.4853C>T c.4035C>T (p.Val1345=) c.3996C>T (p.Val1332=) c.3927C>T (p.Val1309=) c.3984C>T (p.Val1328=) c.3993C>T (p.Val1331=) c.3510C>T (p.Val1170=) c.3240C>T (p.Val1080=) n.3904C>T n.3889C>T n.4805C>T | |
1 | g.5863992G>C | CA415787031 | NPHP4 | c.4038C>G (p.Val1346=) n.3189C>G c.*2939C>G (n.*2939C>G) n.2786C>G n.3770C>G c.*1849C>G (n.*1849C>G) c.2499C>G (p.Val833=) c.2502C>G (p.Val834=) n.4853C>G c.4035C>G (p.Val1345=) c.3996C>G (p.Val1332=) c.3927C>G (p.Val1309=) c.3984C>G (p.Val1328=) c.3993C>G (p.Val1331=) c.3510C>G (p.Val1170=) c.3240C>G (p.Val1080=) n.3904C>G n.3889C>G n.4805C>G | |
1 | g.5863992G>T | CA415787032 | NPHP4 | c.4038C>A (p.Val1346=) n.3189C>A c.*2939C>A (n.*2939C>A) n.2786C>A n.3770C>A c.*1849C>A (n.*1849C>A) c.2499C>A (p.Val833=) c.2502C>A (p.Val834=) n.4853C>A c.4035C>A (p.Val1345=) c.3996C>A (p.Val1332=) c.3927C>A (p.Val1309=) c.3984C>A (p.Val1328=) c.3993C>A (p.Val1331=) c.3510C>A (p.Val1170=) c.3240C>A (p.Val1080=) n.3904C>A n.3889C>A n.4805C>A | |
1 | g.5863992_5863999delinsGACACCCT | CA1151209259 | NPHP4 | c.4031_4038delinsAGGGTGTC (p.Lys1344=) n.3182_3189delinsAGGGTGTC c.*2932_*2939delinsAGGGTGTC (n.*2932_*2939delinsAGGGTGTC) n.2779_2786delinsAGGGTGTC n.3763_3770delinsAGGGTGTC c.*1842_*1849delinsAGGGTGTC (n.*1842_*1849delinsAGGGTGTC) c.2492_2499delinsAGGGTGTC (p.Lys831=) c.2495_2502delinsAGGGTGTC (p.Lys832=) n.4846_4853delinsAGGGTGTC c.4028_4035delinsAGGGTGTC (p.Lys1343=) c.3989_3996delinsAGGGTGTC (p.Lys1330=) c.3920_3927delinsAGGGTGTC (p.Lys1307=) c.3977_3984delinsAGGGTGTC (p.Lys1326=) c.3986_3993delinsAGGGTGTC (p.Lys1329=) c.3503_3510delinsAGGGTGTC (p.Lys1168=) c.3233_3240delinsAGGGTGTC (p.Lys1078=) n.3897_3904delinsAGGGTGTC n.3882_3889delinsAGGGTGTC n.4798_4805delinsAGGGTGTC |