| 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) |