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.179564709del | CA2499214328 | NPHS2 | c.360del (p.Ile121SerfsTer5) c.275-4947del (n.275-4947del) | ClinVar dbSNP |
| 1 | g.179564709G>A | CA343570830 | NPHS2 | c.359C>T (p.Ser120Phe) c.275-4948C>T (n.275-4948C>T) | |
| 1 | g.179564709G>C | CA343570831 | NPHS2 | c.359C>G (p.Ser120Cys) c.275-4948C>G (n.275-4948C>G) | |
| 1 | g.179564709G>T | CA343570833 | NPHS2 | c.359C>A (p.Ser120Tyr) c.275-4948C>A (n.275-4948C>A) | |
| 1 | g.179564710A= | CA1210322091 | NPHS2 | c.358T= (p.Ser120=) c.275-4949T= (n.275-4949T=) | |
| 1 | g.179564710A>C | CA343570838 | NPHS2 | c.358T>G (p.Ser120Ala) c.275-4949T>G (n.275-4949T>G) | dbSNP gnomAD v4 |
| 1 | g.179564710A>G | CA1267253 | NPHS2 | c.358T>C (p.Ser120Pro) c.275-4949T>C (n.275-4949T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179564710A>T | CA343570836 | NPHS2 | c.358T>A (p.Ser120Thr) c.275-4949T>A (n.275-4949T>A) | |
| 1 | g.179564714del | CA2697825840 | NPHS2 | c.358del (p.Ser120ProfsTer6) c.275-4949del (n.275-4949del) | dbSNP |
| 1 | g.179564711A>C | CA343570840 | NPHS2 | c.357T>G (p.Phe119Leu) c.275-4950T>G (n.275-4950T>G) | |
| 1 | g.179564711A>G | CA422027346 | NPHS2 | c.357T>C (p.Phe119=) c.275-4950T>C (n.275-4950T>C) | |
| 1 | g.179564711A>T | CA343570842 | NPHS2 | c.357T>A (p.Phe119Leu) c.275-4950T>A (n.275-4950T>A) | |
| 1 | g.179564712A>C | CA343570844 | NPHS2 | c.356T>G (p.Phe119Cys) c.275-4951T>G (n.275-4951T>G) | |
| 1 | g.179564712A>G | CA343570845 | NPHS2 | c.356T>C (p.Phe119Ser) c.275-4951T>C (n.275-4951T>C) | |
| 1 | g.179564712A>T | CA343570847 | NPHS2 | c.356T>A (p.Phe119Tyr) c.275-4951T>A (n.275-4951T>A) | |
| 1 | g.179564713A>C | CA343570848 | NPHS2 | c.355T>G (p.Phe119Val) c.275-4952T>G (n.275-4952T>G) | |
| 1 | g.179564713A>G | CA343570850 | NPHS2 | c.355T>C (p.Phe119Leu) c.275-4952T>C (n.275-4952T>C) | |
| 1 | g.179564713A>T | CA343570852 | NPHS2 | c.355T>A (p.Phe119Ile) c.275-4952T>A (n.275-4952T>A) | |
| 1 | g.179564714A>C | CA422027355 | NPHS2 | c.354T>G (p.Pro118=) c.275-4953T>G (n.275-4953T>G) | |
| 1 | g.179564714A>G | CA422027357 | NPHS2 | c.354T>C (p.Pro118=) c.275-4953T>C (n.275-4953T>C) | |
| 1 | g.179564714A>T | CA422027358 | NPHS2 | c.354T>A (p.Pro118=) c.275-4953T>A (n.275-4953T>A) | |
| 1 | g.179564715G>A | CA351864 | NPHS2 | c.353C>T (p.Pro118Leu) c.275-4954C>T (n.275-4954C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.179564715G>C | CA343570855 | NPHS2 | c.353C>G (p.Pro118Arg) c.275-4954C>G (n.275-4954C>G) | |
| 1 | g.179564715G= | CA1210322092 | NPHS2 | c.353C= (p.Pro118=) c.275-4954C= (n.275-4954C=) | |
| 1 | g.179564715G>T | CA343570856 | NPHS2 | c.353C>A (p.Pro118His) c.275-4954C>A (n.275-4954C>A) | |
| 1 | g.179564716G>A | CA343570861 | NPHS2 | c.352C>T (p.Pro118Ser) c.275-4955C>T (n.275-4955C>T) | ClinVar dbSNP COSMIC |
| 1 | g.179564716G>C | CA343570860 | NPHS2 | c.352C>G (p.Pro118Ala) c.275-4955C>G (n.275-4955C>G) | |
| 1 | g.179564716G>T | CA343570858 | NPHS2 | c.352C>A (p.Pro118Thr) c.275-4955C>A (n.275-4955C>A) | |
| 1 | g.179564717G>A | CA422027369 | NPHS2 | c.351C>T (p.Phe117=) c.275-4956C>T (n.275-4956C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179564717G>C | CA343570863 | NPHS2 | c.351C>G (p.Phe117Leu) c.275-4956C>G (n.275-4956C>G) | |
| 1 | g.179564717G= | CA1210322093 | NPHS2 | c.351C= (p.Phe117=) c.275-4956C= (n.275-4956C=) | |
| 1 | g.179564717G>T | CA343570865 | NPHS2 | c.351C>A (p.Phe117Leu) c.275-4956C>A (n.275-4956C>A) | |
| 1 | g.179564718A= | CA1210322094 | NPHS2 | c.350T= (p.Phe117=) c.275-4957T= (n.275-4957T=) | |
| 1 | g.179564718A>C | CA343570867 | NPHS2 | c.350T>G (p.Phe117Cys) c.275-4957T>G (n.275-4957T>G) | |
| 1 | g.179564718A>G | CA343570868 | NPHS2 | c.350T>C (p.Phe117Ser) c.275-4957T>C (n.275-4957T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179564718A>T | CA343570869 | NPHS2 | c.350T>A (p.Phe117Tyr) c.275-4957T>A (n.275-4957T>A) | |
| 1 | g.179564719A>C | CA343570872 | NPHS2 | c.349T>G (p.Phe117Val) c.275-4958T>G (n.275-4958T>G) | |
| 1 | g.179564719A>G | CA343570873 | NPHS2 | c.349T>C (p.Phe117Leu) c.275-4958T>C (n.275-4958T>C) | gnomAD v4 |
| 1 | g.179564719A>T | CA343570875 | NPHS2 | c.349T>A (p.Phe117Ile) c.275-4958T>A (n.275-4958T>A) | |
| 1 | g.179564720G>A | CA422027381 | NPHS2 | c.348C>T (p.Thr116=) c.275-4959C>T (n.275-4959C>T) | gnomAD v4 |
| 1 | g.179564720G>C | CA422027383 | NPHS2 | c.348C>G (p.Thr116=) c.275-4959C>G (n.275-4959C>G) | |
| 1 | g.179564720G>T | CA422027385 | NPHS2 | c.348C>A (p.Thr116=) c.275-4959C>A (n.275-4959C>A) | |
| 1 | g.179564721G>A | CA343570877 | NPHS2 | c.347C>T (p.Thr116Ile) c.275-4960C>T (n.275-4960C>T) | dbSNP gnomAD v4 COSMIC |
| 1 | g.179564721G>C | CA343570879 | NPHS2 | c.347C>G (p.Thr116Ser) c.275-4960C>G (n.275-4960C>G) | |
| 1 | g.179564721G= | CA1210322095 | NPHS2 | c.347C= (p.Thr116=) c.275-4960C= (n.275-4960C=) | |
| 1 | g.179564721G>T | CA343570881 | NPHS2 | c.347C>A (p.Thr116Asn) c.275-4960C>A (n.275-4960C>A) | |
| 1 | g.179564722T>A | CA343570882 | NPHS2 | c.346A>T (p.Thr116Ser) c.275-4961A>T (n.275-4961A>T) | |
| 1 | g.179564722T>C | CA343570884 | NPHS2 | c.346A>G (p.Thr116Ala) c.275-4961A>G (n.275-4961A>G) | |
| 1 | g.179564722T>G | CA343570885 | NPHS2 | c.346A>C (p.Thr116Pro) c.275-4961A>C (n.275-4961A>C) | |
| 1 | g.179564723C>A | CA343570890 | NPHS2 | c.345G>T (p.Met115Ile) c.275-4962G>T (n.275-4962G>T) |