UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179564749G>A | CA343570988 | NPHS2 | c.319C>T (p.Leu107Phe) c.275-4988C>T (n.275-4988C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564749G>C | CA343570990 | NPHS2 | c.319C>G (p.Leu107Val) c.275-4988C>G (n.275-4988C>G) | |
| 1 | g.179564749G= | CA1210322107 | NPHS2 | c.319C= (p.Leu107=) c.275-4988C= (n.275-4988C=) | |
| 1 | g.179564749G>T | CA343570992 | NPHS2 | c.319C>A (p.Leu107Ile) c.275-4988C>A (n.275-4988C>A) | |
| 1 | g.179564750G>A | CA422027500 | NPHS2 | c.318C>T (p.Val106=) c.275-4989C>T (n.275-4989C>T) | |
| 1 | g.179564750G>C | CA422027501 | NPHS2 | c.318C>G (p.Val106=) c.275-4989C>G (n.275-4989C>G) | |
| 1 | g.179564750G>T | CA422027503 | NPHS2 | c.318C>A (p.Val106=) c.275-4989C>A (n.275-4989C>A) | |
| 1 | g.179564751A>C | CA343570994 | NPHS2 | c.317T>G (p.Val106Gly) c.275-4990T>G (n.275-4990T>G) | |
| 1 | g.179564751A>G | CA343570997 | NPHS2 | c.317T>C (p.Val106Ala) c.275-4990T>C (n.275-4990T>C) | |
| 1 | g.179564751A>T | CA343570995 | NPHS2 | c.317T>A (p.Val106Asp) c.275-4990T>A (n.275-4990T>A) | |
| 1 | g.179564752C>A | CA1267258 | NPHS2 | c.316G>T (p.Val106Phe) c.275-4991G>T (n.275-4991G>T) | dbSNP ExAC gnomAD v2 |
| 1 | g.179564752C= | CA1148731003 | NPHS2 | c.316G= (p.Val106=) c.275-4991G= (n.275-4991G=) | |
| 1 | g.179564752C>G | CA343571000 | NPHS2 | c.316G>C (p.Val106Leu) c.275-4991G>C (n.275-4991G>C) | |
| 1 | g.179564752C>T | CA343571002 | NPHS2 | c.316G>A (p.Val106Ile) c.275-4991G>A (n.275-4991G>A) | |
| 1 | g.179564752_179564753insCCAATAGGT | CA2555142581 | NPHS2 | c.315_316insACCTATTGG (p.Leu105_Val106insThrTyrTrp) c.275-4992_275-4991insACCTATTGG (n.275-4992_275-4991insACCTATTGG) | |
| 1 | g.179564753A>C | CA422027514 | NPHS2 | c.315T>G (p.Leu105=) c.275-4992T>G (n.275-4992T>G) | |
| 1 | g.179564753A>G | CA422027515 | NPHS2 | c.315T>C (p.Leu105=) c.275-4992T>C (n.275-4992T>C) | |
| 1 | g.179564753A>T | CA422027517 | NPHS2 | c.315T>A (p.Leu105=) c.275-4992T>A (n.275-4992T>A) | |
| 1 | g.179564754A>C | CA343571003 | NPHS2 | c.314T>G (p.Leu105Arg) c.275-4993T>G (n.275-4993T>G) | |
| 1 | g.179564754A>G | CA343571005 | NPHS2 | c.314T>C (p.Leu105Pro) c.275-4993T>C (n.275-4993T>C) | |
| 1 | g.179564754A>T | CA343571007 | NPHS2 | c.314T>A (p.Leu105His) c.275-4993T>A (n.275-4993T>A) | |
| 1 | g.179564755G>A | CA1267259 | NPHS2 | c.313C>T (p.Leu105Phe) c.275-4994C>T (n.275-4994C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179564755G>C | CA343571009 | NPHS2 | c.313C>G (p.Leu105Val) c.275-4994C>G (n.275-4994C>G) | |
| 1 | g.179564755G= | CA1210322108 | NPHS2 | c.313C= (p.Leu105=) c.275-4994C= (n.275-4994C=) | |
| 1 | g.179564755G>T | CA343571010 | NPHS2 | c.313C>A (p.Leu105Ile) c.275-4994C>A (n.275-4994C>A) | |
| 1 | g.179564756A>C | CA422027525 | NPHS2 | c.312T>G (p.Leu104=) c.275-4995T>G (n.275-4995T>G) | |
| 1 | g.179564756A>G | CA422027527 | NPHS2 | c.312T>C (p.Leu104=) c.275-4995T>C (n.275-4995T>C) | |
| 1 | g.179564756A>T | CA422027529 | NPHS2 | c.312T>A (p.Leu104=) c.275-4995T>A (n.275-4995T>A) | |
| 1 | g.179564757A>C | CA343571012 | NPHS2 | c.311T>G (p.Leu104Arg) c.275-4996T>G (n.275-4996T>G) | |
| 1 | g.179564757A>G | CA343571014 | NPHS2 | c.311T>C (p.Leu104Pro) c.275-4996T>C (n.275-4996T>C) | |
| 1 | g.179564757A>T | CA343571015 | NPHS2 | c.311T>A (p.Leu104His) c.275-4996T>A (n.275-4996T>A) | |
| 1 | g.179564758G>A | CA343571017 | NPHS2 | c.310C>T (p.Leu104Phe) c.275-4997C>T (n.275-4997C>T) | ClinVar dbSNP |
| 1 | g.179564758G>C | CA343571021 | NPHS2 | c.310C>G (p.Leu104Val) c.275-4997C>G (n.275-4997C>G) | |
| 1 | g.179564758G= | CA1210322109 | NPHS2 | c.310C= (p.Leu104=) c.275-4997C= (n.275-4997C=) | |
| 1 | g.179564758G>T | CA343571019 | NPHS2 | c.310C>A (p.Leu104Ile) c.275-4997C>A (n.275-4997C>A) | |
| 1 | g.179564759C>A | CA343571023 | NPHS2 | c.309G>T (p.Trp103Cys) c.275-4998G>T (n.275-4998G>T) | |
| 1 | g.179564759C>G | CA343571024 | NPHS2 | c.309G>C (p.Trp103Cys) c.275-4998G>C (n.275-4998G>C) | |
| 1 | g.179564759C>T | CA343571026 | NPHS2 | c.309G>A (p.Trp103Ter) c.275-4998G>A (n.275-4998G>A) | |
| 1 | g.179564760C>A | CA343571028 | NPHS2 | c.308G>T (p.Trp103Leu) c.275-4999G>T (n.275-4999G>T) | |
| 1 | g.179564760C= | CA1210322110 | NPHS2 | c.308G= (p.Trp103=) c.275-4999G= (n.275-4999G=) | |
| 1 | g.179564760C>G | CA343571030 | NPHS2 | c.308G>C (p.Trp103Ser) c.275-4999G>C (n.275-4999G>C) | |
| 1 | g.179564760C>T | CA343571031 | NPHS2 | c.308G>A (p.Trp103Ter) c.275-4999G>A (n.275-4999G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179564760_179564761insTTCCTTGACTCCCCCAG | CA2746822109 | NPHS2 | c.307_308insCTGGGGGAGTCAAGGAA (p.Trp103SerfsTer19) c.275-5000_275-4999insCTGGGGGAGTCAAGGAA (n.275-5000_275-4999insCTGGGGGAGTCAAGGAA) | |
| 1 | g.179564761del | CA2649316806 | NPHS2 | c.307del (p.Trp103GlyfsTer13) c.275-5000del (n.275-5000del) | gnomAD v4 |
| 1 | g.179564761A>C | CA343571036 | NPHS2 | c.307T>G (p.Trp103Gly) c.275-5000T>G (n.275-5000T>G) | |
| 1 | g.179564761A>G | CA343571032 | NPHS2 | c.307T>C (p.Trp103Arg) c.275-5000T>C (n.275-5000T>C) | |
| 1 | g.179564761A>T | CA343571034 | NPHS2 | c.307T>A (p.Trp103Arg) c.275-5000T>A (n.275-5000T>A) | |
| 1 | g.179564762C>A | CA343571038 | NPHS2 | c.306G>T (p.Glu102Asp) c.275-5001G>T (n.275-5001G>T) | |
| 1 | g.179564762C= | CA1210322111 | NPHS2 | c.306G= (p.Glu102=) c.275-5001G= (n.275-5001G=) | |
| 1 | g.179564762C>G | CA343571039 | NPHS2 | c.306G>C (p.Glu102Asp) c.275-5001G>C (n.275-5001G>C) | |
| 1 | g.179564762C>T | CA422027553 | NPHS2 | c.306G>A (p.Glu102=) c.275-5001G>A (n.275-5001G>A) | dbSNP gnomAD v4 |
| 1 | g.179564763T>A | CA343571042 | NPHS2 | c.305A>T (p.Glu102Val) c.275-5002A>T (n.275-5002A>T) | |
| 1 | g.179564763T>C | CA343571043 | NPHS2 | c.305A>G (p.Glu102Gly) c.275-5002A>G (n.275-5002A>G) | |
| 1 | g.179564763T>G | CA343571044 | NPHS2 | c.305A>C (p.Glu102Ala) c.275-5002A>C (n.275-5002A>C) | |
| 1 | g.179564764C>A | CA343571047 | NPHS2 | c.304G>T (p.Glu102Ter) c.275-5003G>T (n.275-5003G>T) | |
| 1 | g.179564764C= | CA1210322112 | NPHS2 | c.304G= (p.Glu102=) c.275-5003G= (n.275-5003G=) | |
| 1 | g.179564764C>G | CA343571050 | NPHS2 | c.304G>C (p.Glu102Gln) c.275-5003G>C (n.275-5003G>C) | |
| 1 | g.179564764C>T | CA343571048 | NPHS2 | c.304G>A (p.Glu102Lys) c.275-5003G>A (n.275-5003G>A) | ClinVar dbSNP |
| 1 | g.179564766_179564767del | CA2649316809 | NPHS2 | c.303_304del (p.Cys101Ter) c.275-5004_275-5003del (n.275-5004_275-5003del) | gnomAD v4 |
| 1 | g.179564765A>C | CA343571052 | NPHS2 | c.303T>G (p.Cys101Trp) c.275-5004T>G (n.275-5004T>G) | gnomAD v4 |
| 1 | g.179564765A>G | CA422027565 | NPHS2 | c.303T>C (p.Cys101=) c.275-5004T>C (n.275-5004T>C) | |
| 1 | g.179564765A>T | CA343571054 | NPHS2 | c.303T>A (p.Cys101Ter) c.275-5004T>A (n.275-5004T>A) | |
| 1 | g.179564766C>A | CA343571056 | NPHS2 | c.302G>T (p.Cys101Phe) c.275-5005G>T (n.275-5005G>T) | |
| 1 | g.179564766C= | CA1210322113 | NPHS2 | c.302G= (p.Cys101=) c.275-5005G= (n.275-5005G=) | |
| 1 | g.179564766C>G | CA1267260 | NPHS2 | c.302G>C (p.Cys101Ser) c.275-5005G>C (n.275-5005G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179564766C>T | CA343571059 | NPHS2 | c.302G>A (p.Cys101Tyr) c.275-5005G>A (n.275-5005G>A) | ClinVar dbSNP |
| 1 | g.179564767A>C | CA343571061 | NPHS2 | c.301T>G (p.Cys101Gly) c.275-5006T>G (n.275-5006T>G) | |
| 1 | g.179564767A>G | CA343571063 | NPHS2 | c.301T>C (p.Cys101Arg) c.275-5006T>C (n.275-5006T>C) | |
| 1 | g.179564767A>T | CA343571064 | NPHS2 | c.301T>A (p.Cys101Ser) c.275-5006T>A (n.275-5006T>A) | |
| 1 | g.179564768G>A | CA422027574 | NPHS2 | c.300C>T (p.Ala100=) c.275-5007C>T (n.275-5007C>T) | |
| 1 | g.179564768G>C | CA422027576 | NPHS2 | c.300C>G (p.Ala100=) c.275-5007C>G (n.275-5007C>G) | |
| 1 | g.179564768G>T | CA422027579 | NPHS2 | c.300C>A (p.Ala100=) c.275-5007C>A (n.275-5007C>A) | |
| 1 | g.179564769G>A | CA343571067 | NPHS2 | c.299C>T (p.Ala100Val) c.275-5008C>T (n.275-5008C>T) | gnomAD v4 COSMIC |
| 1 | g.179564769G>C | CA343571068 | NPHS2 | c.299C>G (p.Ala100Gly) c.275-5008C>G (n.275-5008C>G) | |
| 1 | g.179564769G= | CA1210322114 | NPHS2 | c.299C= (p.Ala100=) c.275-5008C= (n.275-5008C=) | |
| 1 | g.179564769G>T | CA343571069 | NPHS2 | c.299C>A (p.Ala100Asp) c.275-5008C>A (n.275-5008C>A) | |
| 1 | g.179564770C>A | CA343571075 | NPHS2 | c.298G>T (p.Ala100Ser) c.275-5009G>T (n.275-5009G>T) | |
| 1 | g.179564770C>G | CA343571072 | NPHS2 | c.298G>C (p.Ala100Pro) c.275-5009G>C (n.275-5009G>C) | |
| 1 | g.179564770C>T | CA343571073 | NPHS2 | c.298G>A (p.Ala100Thr) c.275-5009G>A (n.275-5009G>A) | |
| 1 | g.179564771_179564773dup | CA891821571 | NPHS2 | c.296_298dup (p.Gly99_Ala100insGly) c.275-5011_275-5009dup (n.275-5011_275-5009dup) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179564771C>A | CA1267261 | NPHS2 | c.297G>T (p.Gly99=) c.275-5010G>T (n.275-5010G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179564771C= | CA1145128456 | NPHS2 | c.297G= (p.Gly99=) c.275-5010G= (n.275-5010G=) | |
| 1 | g.179564771C>G | CA422027585 | NPHS2 | c.297G>C (p.Gly99=) c.275-5010G>C (n.275-5010G>C) | |
| 1 | g.179564771C>T | CA422027586 | NPHS2 | c.297G>A (p.Gly99=) c.275-5010G>A (n.275-5010G>A) | |
| 1 | g.179564772C>A | CA343571079 | NPHS2 | c.296G>T (p.Gly99Val) c.275-5011G>T (n.275-5011G>T) | gnomAD v4 |
| 1 | g.179564772C= | CA1210322115 | NPHS2 | c.296G= (p.Gly99=) c.275-5011G= (n.275-5011G=) | |
| 1 | g.179564772C>G | CA343571081 | NPHS2 | c.296G>C (p.Gly99Ala) c.275-5011G>C (n.275-5011G>C) | |
| 1 | g.179564772C>T | CA1267262 | NPHS2 | c.296G>A (p.Gly99Glu) c.275-5011G>A (n.275-5011G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564773C>A | CA343571085 | NPHS2 | c.295G>T (p.Gly99Trp) c.275-5012G>T (n.275-5012G>T) | |
| 1 | g.179564773C>G | CA343571086 | NPHS2 | c.295G>C (p.Gly99Arg) c.275-5012G>C (n.275-5012G>C) | |
| 1 | g.179564773C>T | CA343571089 | NPHS2 | c.295G>A (p.Gly99Arg) c.275-5012G>A (n.275-5012G>A) | |
| 1 | g.179564774T>A | CA343571091 | NPHS2 | c.294A>T (p.Leu98Phe) c.275-5013A>T (n.275-5013A>T) | |
| 1 | g.179564774T>C | CA422027597 | NPHS2 | c.294A>G (p.Leu98=) c.275-5013A>G (n.275-5013A>G) | |
| 1 | g.179564774T>G | CA343571092 | NPHS2 | c.294A>C (p.Leu98Phe) c.275-5013A>C (n.275-5013A>C) | |
| 1 | g.179564774_179564775del | CA2586967765 | NPHS2 | c.293_294del (p.Leu98TrpfsTer4) c.275-5014_275-5013del (n.275-5014_275-5013del) | ClinVar |
| 1 | g.179564775A>C | CA343571094 | NPHS2 | c.293T>G (p.Leu98Ter) c.275-5014T>G (n.275-5014T>G) | |
| 1 | g.179564775A>G | CA343571096 | NPHS2 | c.293T>C (p.Leu98Ser) c.275-5014T>C (n.275-5014T>C) | |
| 1 | g.179564775A>T | CA343571097 | NPHS2 | c.293T>A (p.Leu98Ter) c.275-5014T>A (n.275-5014T>A) | |
| 1 | g.179564776A>C | CA343571099 | NPHS2 | c.292T>G (p.Leu98Val) c.275-5015T>G (n.275-5015T>G) | |
| 1 | g.179564776A>G | CA422027602 | NPHS2 | c.292T>C (p.Leu98=) c.275-5015T>C (n.275-5015T>C) | |
| 1 | g.179564776A>T | CA343571101 | NPHS2 | c.292T>A (p.Leu98Ile) c.275-5015T>A (n.275-5015T>A) | |
| 1 | g.179564777G>A | CA422027604 | NPHS2 | c.291C>T (p.Gly97=) c.275-5016C>T (n.275-5016C>T) | gnomAD v4 |
| 1 | g.179564777G>C | CA422027607 | NPHS2 | c.291C>G (p.Gly97=) c.275-5016C>G (n.275-5016C>G) | |
| 1 | g.179564777G>T | CA422027606 | NPHS2 | c.291C>A (p.Gly97=) c.275-5016C>A (n.275-5016C>A) | |
| 1 | g.179564778C>A | CA343571107 | NPHS2 | c.290G>T (p.Gly97Val) c.275-5017G>T (n.275-5017G>T) | |
| 1 | g.179564778C= | CA1210322116 | NPHS2 | c.290G= (p.Gly97=) c.275-5017G= (n.275-5017G=) | |
| 1 | g.179564778C>G | CA343571105 | NPHS2 | c.290G>C (p.Gly97Ala) c.275-5017G>C (n.275-5017G>C) | |
| 1 | g.179564778C>T | CA343571103 | NPHS2 | c.290G>A (p.Gly97Asp) c.275-5017G>A (n.275-5017G>A) | dbSNP |
| 1 | g.179564779C>A | CA343571110 | NPHS2 | c.289G>T (p.Gly97Cys) c.275-5018G>T (n.275-5018G>T) | |
| 1 | g.179564779C= | CA1143448340 | NPHS2 | c.289G= (p.Gly97=) c.275-5018G= (n.275-5018G=) | |
| 1 | g.179564779C>G | CA343571111 | NPHS2 | c.289G>C (p.Gly97Arg) c.275-5018G>C (n.275-5018G>C) | ClinVar gnomAD v4 |
| 1 | g.179564779C>T | CA1267263 | NPHS2 | c.289G>A (p.Gly97Ser) c.275-5018G>A (n.275-5018G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564780G>A | CA1267264 | NPHS2 | c.288C>T (p.Ser96=) c.275-5019C>T (n.275-5019C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564780G>C | CA422027617 | NPHS2 | c.288C>G (p.Ser96=) c.275-5019C>G (n.275-5019C>G) | |
| 1 | g.179564780G= | CA1139991874 | NPHS2 | c.288C= (p.Ser96=) c.275-5019C= (n.275-5019C=) | |
| 1 | g.179564780G>T | CA422027616 | NPHS2 | c.288C>A (p.Ser96=) c.275-5019C>A (n.275-5019C>A) | |
| 1 | g.179564781G>A | CA343571115 | NPHS2 | c.287C>T (p.Ser96Phe) c.275-5020C>T (n.275-5020C>T) | |
| 1 | g.179564781G>C | CA343571117 | NPHS2 | c.287C>G (p.Ser96Cys) c.275-5020C>G (n.275-5020C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179564781G= | CA1210322117 | NPHS2 | c.287C= (p.Ser96=) c.275-5020C= (n.275-5020C=) | |
| 1 | g.179564781G>T | CA343571118 | NPHS2 | c.287C>A (p.Ser96Tyr) c.275-5020C>A (n.275-5020C>A) | |
| 1 | g.179564782A>C | CA343571121 | NPHS2 | c.286T>G (p.Ser96Ala) c.275-5021T>G (n.275-5021T>G) | |
| 1 | g.179564782A>G | CA343571123 | NPHS2 | c.286T>C (p.Ser96Pro) c.275-5021T>C (n.275-5021T>C) | |
| 1 | g.179564782A>T | CA343571125 | NPHS2 | c.286T>A (p.Ser96Thr) c.275-5021T>A (n.275-5021T>A) | |
| 1 | g.179564783G>A | CA422027624 | NPHS2 | c.285C>T (p.Ser95=) c.275-5022C>T (n.275-5022C>T) | ClinVar gnomAD v4 |
| 1 | g.179564783G>C | CA1267265 | NPHS2 | c.285C>G (p.Ser95=) c.275-5022C>G (n.275-5022C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179564783G= | CA1210322118 | NPHS2 | c.285C= (p.Ser95=) c.275-5022C= (n.275-5022C=) | |
| 1 | g.179564783G>T | CA422027625 | NPHS2 | c.285C>A (p.Ser95=) c.275-5022C>A (n.275-5022C>A) | |
| 1 | g.179564784G>A | CA343571128 | NPHS2 | c.284C>T (p.Ser95Phe) c.275-5023C>T (n.275-5023C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564784G>C | CA343571130 | NPHS2 | c.284C>G (p.Ser95Cys) c.275-5023C>G (n.275-5023C>G) | |
| 1 | g.179564784G= | CA1210322119 | NPHS2 | c.284C= (p.Ser95=) c.275-5023C= (n.275-5023C=) | |
| 1 | g.179564784G>T | CA343571131 | NPHS2 | c.284C>A (p.Ser95Tyr) c.275-5023C>A (n.275-5023C>A) | |
| 1 | g.179564785A= | CA1210322120 | NPHS2 | c.283T= (p.Ser95=) c.275-5024T= (n.275-5024T=) | |
| 1 | g.179564785A>C | CA343571135 | NPHS2 | c.283T>G (p.Ser95Ala) c.275-5024T>G (n.275-5024T>G) | |
| 1 | g.179564785A>G | CA343571137 | NPHS2 | c.283T>C (p.Ser95Pro) c.275-5024T>C (n.275-5024T>C) | |
| 1 | g.179564785A>T | CA343571134 | NPHS2 | c.283T>A (p.Ser95Thr) c.275-5024T>A (n.275-5024T>A) | |
| 1 | g.179564786T>A | CA343571141 | NPHS2 | c.282A>T (p.Lys94Asn) c.275-5025A>T (n.275-5025A>T) | |
| 1 | g.179564786T>C | CA422027639 | NPHS2 | c.282A>G (p.Lys94=) c.275-5025A>G (n.275-5025A>G) | |
| 1 | g.179564786T>G | CA343571143 | NPHS2 | c.282A>C (p.Lys94Asn) c.275-5025A>C (n.275-5025A>C) | |
| 1 | g.179564788dup | CA1267266 | NPHS2 | c.282dup (p.Ser95IlefsTer8) c.275-5025dup (n.275-5025dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179564787T>A | CA343571146 | NPHS2 | c.281A>T (p.Lys94Ile) c.275-5026A>T (n.275-5026A>T) | |
| 1 | g.179564787T>C | CA343571148 | NPHS2 | c.281A>G (p.Lys94Arg) c.275-5026A>G (n.275-5026A>G) | |
| 1 | g.179564787T>G | CA343571151 | NPHS2 | c.281A>C (p.Lys94Thr) c.275-5026A>C (n.275-5026A>C) | COSMIC |
| 1 | g.179564788T>A | CA343571152 | NPHS2 | c.280A>T (p.Lys94Ter) c.275-5027A>T (n.275-5027A>T) | |
| 1 | g.179564788T>C | CA343571159 | NPHS2 | c.280A>G (p.Lys94Glu) c.275-5027A>G (n.275-5027A>G) | |
| 1 | g.179564788T>G | CA343571161 | NPHS2 | c.280A>C (p.Lys94Gln) c.275-5027A>C (n.275-5027A>C) | |
| 1 | g.179564789G>A | CA422027648 | NPHS2 | c.279C>T (p.Thr93=) c.275-5028C>T (n.275-5028C>T) | ClinVar dbSNP |
| 1 | g.179564789G>C | CA422027650 | NPHS2 | c.279C>G (p.Thr93=) c.275-5028C>G (n.275-5028C>G) | |
| 1 | g.179564789G>T | CA422027651 | NPHS2 | c.279C>A (p.Thr93=) c.275-5028C>A (n.275-5028C>A) | gnomAD v4 |
| 1 | g.179564790G>A | CA343571164 | NPHS2 | c.278C>T (p.Thr93Ile) c.275-5029C>T (n.275-5029C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564790G>C | CA343571166 | NPHS2 | c.278C>G (p.Thr93Ser) c.275-5029C>G (n.275-5029C>G) | |
| 1 | g.179564790G= | CA1210322121 | NPHS2 | c.278C= (p.Thr93=) c.275-5029C= (n.275-5029C=) | |
| 1 | g.179564790G>T | CA343571169 | NPHS2 | c.278C>A (p.Thr93Asn) c.275-5029C>A (n.275-5029C>A) | dbSNP |
| 1 | g.179564791T>A | CA343571178 | NPHS2 | c.277A>T (p.Thr93Ser) c.275-5030A>T (n.275-5030A>T) | |
| 1 | g.179564791T>C | CA343571176 | NPHS2 | c.277A>G (p.Thr93Ala) c.275-5030A>G (n.275-5030A>G) | |
| 1 | g.179564791T>G | CA343571173 | NPHS2 | c.277A>C (p.Thr93Pro) c.275-5030A>C (n.275-5030A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179564791T= | CA1210322122 | NPHS2 | c.277A= (p.Thr93=) c.275-5030A= (n.275-5030A=) | |
| 1 | g.179564791_179564796del | CA2649316810 | NPHS2 | c.275-3_277del c.275-5035_275-5030del (n.275-5035_275-5030del) | gnomAD v4 |
| 1 | g.179564792A= | CA1210322123 | NPHS2 | c.276T= (p.Gly92=) c.275-5031T= (n.275-5031T=) | |
| 1 | g.179564792A>C | CA422027667 | NPHS2 | c.276T>G (p.Gly92=) c.275-5031T>G (n.275-5031T>G) | |
| 1 | g.179564792A>G | CA33703701 | NPHS2 | c.276T>C (p.Gly92=) c.275-5031T>C (n.275-5031T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179564792A>T | CA422027670 | NPHS2 | c.276T>A (p.Gly92=) c.275-5031T>A (n.275-5031T>A) | ClinVar dbSNP |
| 1 | g.179564793C>A | CA1267267 | NPHS2 | c.275G>T (p.Gly92Val) c.275-5032G>T (n.275-5032G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564793C= | CA1141861320 | NPHS2 | c.275G= (p.Gly92=) c.275-5032G= (n.275-5032G=) | |
| 1 | g.179564793C>G | CA343571183 | NPHS2 | c.275G>C (p.Gly92Ala) c.275-5032G>C (n.275-5032G>C) | |
| 1 | g.179564793C>T | CA343571185 | NPHS2 | c.275G>A (p.Gly92Asp) c.275-5032G>A (n.275-5032G>A) | |
| 1 | g.179564794C>A | CA343571188 | NPHS2 | c.275-1G>T (n.275-1G>T) c.275-5033G>T (n.275-5033G>T) | |
| 1 | g.179564794C>G | CA343571190 | NPHS2 | c.275-1G>C (n.275-1G>C) c.275-5033G>C (n.275-5033G>C) | |
| 1 | g.179564794C>T | CA343571193 | NPHS2 | c.275-1G>A (n.275-1G>A) c.275-5033G>A (n.275-5033G>A) | gnomAD v4 |
| 1 | g.179564795T>A | CA343571196 | NPHS2 | c.275-2A>T (n.275-2A>T) c.275-5034A>T (n.275-5034A>T) | |
| 1 | g.179564795T>C | CA343571198 | NPHS2 | c.275-2A>G (n.275-2A>G) c.275-5034A>G (n.275-5034A>G) | ClinVar dbSNP |
| 1 | g.179564795T>G | CA343571200 | NPHS2 | c.275-2A>C (n.275-2A>C) c.275-5034A>C (n.275-5034A>C) | |
| 1 | g.179564795T= | CA1210322124 | NPHS2 | c.275-2A= (n.275-2A=) c.275-5034A= (n.275-5034A=) | |
| 1 | g.179564796T>A | CA2697523309 | NPHS2 | c.275-3A>T (n.275-3A>T) c.275-5035A>T (n.275-5035A>T) | dbSNP |
| 1 | g.179564796T>G | CA1267269 | NPHS2 | c.275-3A>C (n.275-3A>C) c.275-5035A>C (n.275-5035A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564796T= | CA1143754847 | NPHS2 | c.275-3A= (n.275-3A=) c.275-5035A= (n.275-5035A=) | |
| 1 | g.179564796_179564800delinsTAAAA | CA1210322125 | NPHS2 | c.275-7_275-3delinsTTTTA (n.275-7_275-3delinsTTTTA) c.275-5039_275-5035delinsTTTTA (n.275-5039_275-5035delinsTTTTA) | |
| 1 | g.179564797A= | CA1210322126 | NPHS2 | c.275-4T= (n.275-4T=) c.275-5036T= (n.275-5036T=) | |
| 1 | g.179564797A>G | CA527200106 | NPHS2 | c.275-4T>C (n.275-4T>C) c.275-5036T>C (n.275-5036T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179564803dup | CA1267268 | NPHS2 | c.275-4dup (n.275-4dup) c.275-5036dup (n.275-5036dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179564803del | CA2649316811 | NPHS2 | c.275-4del (n.275-4del) c.275-5036del (n.275-5036del) | gnomAD v4 |
| 1 | g.179564800_179564803del | CA527200105 | NPHS2 | c.275-7_275-4del (n.275-7_275-4del) c.275-5039_275-5036del (n.275-5039_275-5036del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179564798_179564799insGGAGA | CA2649316812 | NPHS2 | c.275-5_275-4insCTCCT (n.275-5_275-4insCTCCT) c.275-5037_275-5036insCTCCT (n.275-5037_275-5036insCTCCT) | gnomAD v4 |
| 1 | g.179564802A>C | CA2573131333 | NPHS2 | c.275-9T>G (n.275-9T>G) c.275-5041T>G (n.275-5041T>G) | ClinVar dbSNP |
| 1 | g.179564804_179564807del | CA2499214329 | NPHS2 | c.275-12_275-9del (n.275-12_275-9del) c.275-5044_275-5041del (n.275-5044_275-5041del) | ClinVar dbSNP |
| 1 | g.179564803A= | CA1210322127 | NPHS2 | c.275-10T= (n.275-10T=) c.275-5042T= (n.275-5042T=) | |
| 1 | g.179564803A>G | CA1210322128 | NPHS2 | c.275-10T>C (n.275-10T>C) c.275-5042T>C (n.275-5042T>C) | dbSNP gnomAD v4 |
| 1 | g.179564804T>C | CA2746822116 | NPHS2 | c.275-11A>G (n.275-11A>G) c.275-5043A>G (n.275-5043A>G) | |
| 1 | g.179564805T>A | CA2746822117 | NPHS2 | c.275-12A>T (n.275-12A>T) c.275-5044A>T (n.275-5044A>T) | |
| 1 | g.179564805T>G | CA2697554704 | NPHS2 | c.275-12A>C (n.275-12A>C) c.275-5044A>C (n.275-5044A>C) | ClinVar |
| 1 | g.179564805_179564806delinsTA | CA1210322129 | NPHS2 | c.275-13_275-12delinsTA (n.275-13_275-12delinsTA) c.275-5045_275-5044delinsTA (n.275-5045_275-5044delinsTA) | |
| 1 | g.179564806A>G | CA2649316813 | NPHS2 | c.275-13T>C (n.275-13T>C) c.275-5045T>C (n.275-5045T>C) | gnomAD v4 |
| 1 | g.179564808del | CA1267270 | NPHS2 | c.275-13del (n.275-13del) c.275-5045del (n.275-5045del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564807A= | CA1210322130 | NPHS2 | c.275-14T= (n.275-14T=) c.275-5046T= (n.275-5046T=) | |
| 1 | g.179564807A>C | CA1267271 | NPHS2 | c.275-14T>G (n.275-14T>G) c.275-5046T>G (n.275-5046T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179564808A>C | CA2746822119 | NPHS2 | c.275-15T>G (n.275-15T>G) c.275-5047T>G (n.275-5047T>G) | |
| 1 | g.179564809G>C | CA2746822121 | NPHS2 | c.275-16C>G (n.275-16C>G) c.275-5048C>G (n.275-5048C>G) | |
| 1 | g.179564809G= | CA1210322131 | NPHS2 | c.275-16C= (n.275-16C=) c.275-5048C= (n.275-5048C=) | |
| 1 | g.179564809G>T | CA1210322132 | NPHS2 | c.275-16C>A (n.275-16C>A) c.275-5048C>A (n.275-5048C>A) | dbSNP gnomAD v4 |
| 1 | g.179564810C>A | CA2649316814 | NPHS2 | c.275-17G>T (n.275-17G>T) c.275-5049G>T (n.275-5049G>T) | gnomAD v4 |
| 1 | g.179564810C>T | CA2649316815 | NPHS2 | c.275-17G>A (n.275-17G>A) c.275-5049G>A (n.275-5049G>A) | gnomAD v4 |
| 1 | g.179564813_179564814insCACACCCAACAC | CA2746822122 | NPHS2 | c.275-21_275-20insGTGTTGGGTGTG (n.275-21_275-20insGTGTTGGGTGTG) c.275-5053_275-5052insGTGTTGGGTGTG (n.275-5053_275-5052insGTGTTGGGTGTG) | |
| 1 | g.179564815_179564816del | CA2649316816 | NPHS2 | c.275-22_275-21del (n.275-22_275-21del) c.275-5054_275-5053del (n.275-5054_275-5053del) | gnomAD v4 |
| 1 | g.179564815G>A | CA1267272 | NPHS2 | c.275-22C>T (n.275-22C>T) c.275-5054C>T (n.275-5054C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564815G>C | CA2649316817 | NPHS2 | c.275-22C>G (n.275-22C>G) c.275-5054C>G (n.275-5054C>G) | gnomAD v4 |
| 1 | g.179564815G= | CA1146292339 | NPHS2 | c.275-22C= (n.275-22C=) c.275-5054C= (n.275-5054C=) | |
| 1 | g.179564815G>T | CA646094917 | NPHS2 | c.275-22C>A (n.275-22C>A) c.275-5054C>A (n.275-5054C>A) | dbSNP gnomAD v4 COSMIC |
| 1 | g.179564816A>G | CA2649316818 | NPHS2 | c.275-23T>C (n.275-23T>C) c.275-5055T>C (n.275-5055T>C) | gnomAD v4 |
| 1 | g.179564818T>C | CA646094918 | NPHS2 | c.275-25A>G (n.275-25A>G) c.275-5057A>G (n.275-5057A>G) | COSMIC |
| 1 | g.179564820A= | CA1210322133 | NPHS2 | c.275-27T= (n.275-27T=) c.275-5059T= (n.275-5059T=) | |
| 1 | g.179564820A>C | CA2649316819 | NPHS2 | c.275-27T>G (n.275-27T>G) c.275-5059T>G (n.275-5059T>G) | gnomAD v4 |
| 1 | g.179564820A>G | CA527200111 | NPHS2 | c.275-27T>C (n.275-27T>C) c.275-5059T>C (n.275-5059T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179564820_179564821insG | CA1210322134 | NPHS2 | c.275-28_275-27insC (n.275-28_275-27insC) c.275-5060_275-5059insC (n.275-5060_275-5059insC) | dbSNP gnomAD v4 |
| 1 | g.179564821T>G | CA2649316820 | NPHS2 | c.275-28A>C (n.275-28A>C) c.275-5060A>C (n.275-5060A>C) | gnomAD v4 |
| 1 | g.179564823A= | CA1210322135 | NPHS2 | c.275-30T= (n.275-30T=) c.275-5062T= (n.275-5062T=) | |
| 1 | g.179564823A>G | CA1267273 | NPHS2 | c.275-30T>C (n.275-30T>C) c.275-5062T>C (n.275-5062T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564824T>C | CA527200113 | NPHS2 | c.275-31A>G (n.275-31A>G) c.275-5063A>G (n.275-5063A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564824T= | CA1210322136 | NPHS2 | c.275-31A= (n.275-31A=) c.275-5063A= (n.275-5063A=) | |
| 1 | g.179564825A= | CA1210322137 | NPHS2 | c.275-32T= (n.275-32T=) c.275-5064T= (n.275-5064T=) | |
| 1 | g.179564825A>G | CA33703786 | NPHS2 | c.275-32T>C (n.275-32T>C) c.275-5064T>C (n.275-5064T>C) | dbSNP gnomAD v4 |
| 1 | g.179564826T>C | CA2649316821 | NPHS2 | c.275-33A>G (n.275-33A>G) c.275-5065A>G (n.275-5065A>G) | gnomAD v4 |
| 1 | g.179564826T>G | CA33703789 | NPHS2 | c.275-33A>C (n.275-33A>C) c.275-5065A>C (n.275-5065A>C) | dbSNP |
| 1 | g.179564826T= | CA1143367284 | NPHS2 | c.275-33A= (n.275-33A=) c.275-5065A= (n.275-5065A=) | |
| 1 | g.179564828G>A | CA527200114 | NPHS2 | c.275-35C>T (n.275-35C>T) c.275-5067C>T (n.275-5067C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564828G>C | CA2649316822 | NPHS2 | c.275-35C>G (n.275-35C>G) c.275-5067C>G (n.275-5067C>G) | gnomAD v4 |
| 1 | g.179564828G= | CA1210322138 | NPHS2 | c.275-35C= (n.275-35C=) c.275-5067C= (n.275-5067C=) | |
| 1 | g.179564831A>G | CA2649316823 | NPHS2 | c.275-38T>C (n.275-38T>C) c.275-5070T>C (n.275-5070T>C) | gnomAD v4 |
| 1 | g.179564832C>A | CA2649316824 | NPHS2 | c.275-39G>T (n.275-39G>T) c.275-5071G>T (n.275-5071G>T) | gnomAD v4 |
| 1 | g.179564832C>T | CA2573957700 | NPHS2 | c.275-39G>A (n.275-39G>A) c.275-5071G>A (n.275-5071G>A) | gnomAD v4 |
| 1 | g.179564833T>G | CA1267274 | NPHS2 | c.275-40A>C (n.275-40A>C) c.275-5072A>C (n.275-5072A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564833T= | CA1143589973 | NPHS2 | c.275-40A= (n.275-40A=) c.275-5072A= (n.275-5072A=) | |
| 1 | g.179564834T>G | CA2511858142 | NPHS2 | c.275-41A>C (n.275-41A>C) c.275-5073A>C (n.275-5073A>C) | |
| 1 | g.179564835C>A | CA2573957703 | NPHS2 | c.275-42G>T (n.275-42G>T) c.275-5074G>T (n.275-5074G>T) | |
| 1 | g.179564835C>T | CA2573613571 | NPHS2 | c.275-42G>A (n.275-42G>A) c.275-5074G>A (n.275-5074G>A) | |
| 1 | g.179564836A= | CA1140429258 | NPHS2 | c.275-43T= (n.275-43T=) c.275-5075T= (n.275-5075T=) | |
| 1 | g.179564836A>C | CA33703801 | NPHS2 | c.275-43T>G (n.275-43T>G) c.275-5075T>G (n.275-5075T>G) | dbSNP gnomAD v4 |
| 1 | g.179564836A>T | CA891821665 | NPHS2 | c.275-43T>A (n.275-43T>A) c.275-5075T>A (n.275-5075T>A) | dbSNP |
| 1 | g.179564837C>A | CA2573613572 | NPHS2 | c.275-44G>T (n.275-44G>T) c.275-5076G>T (n.275-5076G>T) | |
| 1 | g.179564837C>G | CA2573613573 | NPHS2 | c.275-44G>C (n.275-44G>C) c.275-5076G>C (n.275-5076G>C) | gnomAD v4 |
| 1 | g.179564837C>T | CA2649316825 | NPHS2 | c.275-44G>A (n.275-44G>A) c.275-5076G>A (n.275-5076G>A) | gnomAD v4 |
| 1 | g.179564838T>C | CA1267275 | NPHS2 | c.275-45A>G (n.275-45A>G) c.275-5077A>G (n.275-5077A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179564838T>G | CA527200122 | NPHS2 | c.275-45A>C (n.275-45A>C) c.275-5077A>C (n.275-5077A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179564838T= | CA1210322139 | NPHS2 | c.275-45A= (n.275-45A=) c.275-5077A= (n.275-5077A=) | |
| 1 | g.179564839G>A | CA2573957733 | NPHS2 | c.275-46C>T (n.275-46C>T) c.275-5078C>T (n.275-5078C>T) | |
| 1 | g.179564839G= | CA1210322140 | NPHS2 | c.275-46C= (n.275-46C=) c.275-5078C= (n.275-5078C=) | |
| 1 | g.179564839G>T | CA527200126 | NPHS2 | c.275-46C>A (n.275-46C>A) c.275-5078C>A (n.275-5078C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179564840T>A | CA2649316826 | NPHS2 | c.275-47A>T (n.275-47A>T) c.275-5079A>T (n.275-5079A>T) | gnomAD v4 |
| 1 | g.179564840T>C | CA1267276 | NPHS2 | c.275-47A>G (n.275-47A>G) c.275-5079A>G (n.275-5079A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.179564840T= | CA1147799918 | NPHS2 | c.275-47A= (n.275-47A=) c.275-5079A= (n.275-5079A=) | |
| 1 | g.179564843T>A | CA2573957737 | NPHS2 | c.275-50A>T (n.275-50A>T) c.275-5082A>T (n.275-5082A>T) | |
| 1 | g.179564845A>T | CA2649316827 | NPHS2 | c.275-52T>A (n.275-52T>A) c.275-5084T>A (n.275-5084T>A) | gnomAD v4 |
| 1 | g.179564848G>A | CA1210322142 | NPHS2 | c.275-55C>T (n.275-55C>T) c.275-5087C>T (n.275-5087C>T) | dbSNP gnomAD v4 |
| 1 | g.179564848G= | CA1210322141 | NPHS2 | c.275-55C= (n.275-55C=) c.275-5087C= (n.275-5087C=) | |
| 1 | g.179564848G>T | CA2649316828 | NPHS2 | c.275-55C>A (n.275-55C>A) c.275-5087C>A (n.275-5087C>A) | gnomAD v4 |
| 1 | g.179564849A= | CA1210322143 | NPHS2 | c.275-56T= (n.275-56T=) c.275-5088T= (n.275-5088T=) | |
| 1 | g.179564849A>C | CA10581521 | NPHS2 | c.275-56T>G (n.275-56T>G) c.275-5088T>G (n.275-5088T>G) | ClinVar dbSNP |
| 1 | g.179564849A>G | CA2649316829 | NPHS2 | c.275-56T>C (n.275-56T>C) c.275-5088T>C (n.275-5088T>C) | gnomAD v4 |
| 1 | g.179564849A>T | CA2573957745 | NPHS2 | c.275-56T>A (n.275-56T>A) c.275-5088T>A (n.275-5088T>A) |