| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179564698_179564699delinsAG | CA1210322086 | NPHS2 | c.369_370delinsCT (p.Phe123=) c.275-4938_275-4937delinsCT (n.275-4938_275-4937delinsCT) | |
| 1 | g.179564699del | CA16040670 | NPHS2 | c.369del (p.Cys124AlafsTer2) c.275-4938del (n.275-4938del) | ClinVar dbSNP |
| 1 | g.179564699G>A | CA422027299 | NPHS2 | c.369C>T (p.Phe123=) c.275-4938C>T (n.275-4938C>T) | gnomAD v4 |
| 1 | g.179564699G>C | CA343570787 | NPHS2 | c.369C>G (p.Phe123Leu) c.275-4938C>G (n.275-4938C>G) | gnomAD v4 |
| 1 | g.179564699G>T | CA343570789 | NPHS2 | c.369C>A (p.Phe123Leu) c.275-4938C>A (n.275-4938C>A) | |
| 1 | g.179564700A>C | CA343570792 | NPHS2 | c.368T>G (p.Phe123Cys) c.275-4939T>G (n.275-4939T>G) | gnomAD v4 |
| 1 | g.179564700A>G | CA343570794 | NPHS2 | c.368T>C (p.Phe123Ser) c.275-4939T>C (n.275-4939T>C) | |
| 1 | g.179564700A>T | CA343570796 | NPHS2 | c.368T>A (p.Phe123Tyr) c.275-4939T>A (n.275-4939T>A) | COSMIC |
| 1 | g.179564701A= | CA1210322087 | NPHS2 | c.367T= (p.Phe123=) c.275-4940T= (n.275-4940T=) | |
| 1 | g.179564701A>C | CA343570798 | NPHS2 | c.367T>G (p.Phe123Val) c.275-4940T>G (n.275-4940T>G) | |
| 1 | g.179564701A>G | CA1267249 | NPHS2 | c.367T>C (p.Phe123Leu) c.275-4940T>C (n.275-4940T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179564701A>T | CA343570801 | NPHS2 | c.367T>A (p.Phe123Ile) c.275-4940T>A (n.275-4940T>A) | |
| 1 | g.179564702C>A | CA1267250 | NPHS2 | c.366G>T (p.Trp122Cys) c.275-4941G>T (n.275-4941G>T) | dbSNP ExAC gnomAD v2 |
| 1 | g.179564702C= | CA1210322088 | NPHS2 | c.366G= (p.Trp122=) c.275-4941G= (n.275-4941G=) | |
| 1 | g.179564702C>G | CA343570803 | NPHS2 | c.366G>C (p.Trp122Cys) c.275-4941G>C (n.275-4941G>C) | |
| 1 | g.179564702C>T | CA343570805 | NPHS2 | c.366G>A (p.Trp122Ter) c.275-4941G>A (n.275-4941G>A) | |
| 1 | g.179564703C>A | CA1267251 | NPHS2 | c.365G>T (p.Trp122Leu) c.275-4942G>T (n.275-4942G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179564703C= | CA1210322089 | NPHS2 | c.365G= (p.Trp122=) c.275-4942G= (n.275-4942G=) | |
| 1 | g.179564703C>G | CA1267252 | NPHS2 | c.365G>C (p.Trp122Ser) c.275-4942G>C (n.275-4942G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179564703C>T | CA343570807 | NPHS2 | c.365G>A (p.Trp122Ter) c.275-4942G>A (n.275-4942G>A) | |
| 1 | g.179564704A>C | CA343570810 | NPHS2 | c.364T>G (p.Trp122Gly) c.275-4943T>G (n.275-4943T>G) | |
| 1 | g.179564704A>G | CA343570812 | NPHS2 | c.364T>C (p.Trp122Arg) c.275-4943T>C (n.275-4943T>C) | |
| 1 | g.179564704A>T | CA343570814 | NPHS2 | c.364T>A (p.Trp122Arg) c.275-4943T>A (n.275-4943T>A) | |
| 1 | g.179564705G>A | CA422027323 | NPHS2 | c.363C>T (p.Ile121=) c.275-4944C>T (n.275-4944C>T) | ClinVar |
| 1 | g.179564705G>C | CA343570815 | NPHS2 | c.363C>G (p.Ile121Met) c.275-4944C>G (n.275-4944C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179564705G= | CA1210322090 | NPHS2 | c.363C= (p.Ile121=) c.275-4944C= (n.275-4944C=) | |
| 1 | g.179564705G>T | CA422027326 | NPHS2 | c.363C>A (p.Ile121=) c.275-4944C>A (n.275-4944C>A) | |
| 1 | g.179564706A>C | CA343570818 | NPHS2 | c.362T>G (p.Ile121Ser) c.275-4945T>G (n.275-4945T>G) | |
| 1 | g.179564706A>G | CA343570820 | NPHS2 | c.362T>C (p.Ile121Thr) c.275-4945T>C (n.275-4945T>C) | gnomAD v4 |
| 1 | g.179564706A>T | CA343570822 | NPHS2 | c.362T>A (p.Ile121Asn) c.275-4945T>A (n.275-4945T>A) | |
| 1 | g.179564707T>A | CA343570824 | NPHS2 | c.361A>T (p.Ile121Phe) c.275-4946A>T (n.275-4946A>T) | gnomAD v4 |
| 1 | g.179564707T>C | CA343570826 | NPHS2 | c.361A>G (p.Ile121Val) c.275-4946A>G (n.275-4946A>G) | |
| 1 | g.179564707T>G | CA343570828 | NPHS2 | c.361A>C (p.Ile121Leu) c.275-4946A>C (n.275-4946A>C) | |
| 1 | g.179564708G>A | CA422027335 | NPHS2 | c.360C>T (p.Ser120=) c.275-4947C>T (n.275-4947C>T) | COSMIC |
| 1 | g.179564708G>C | CA422027336 | NPHS2 | c.360C>G (p.Ser120=) c.275-4947C>G (n.275-4947C>G) | |
| 1 | g.179564708G>T | CA422027338 | NPHS2 | c.360C>A (p.Ser120=) c.275-4947C>A (n.275-4947C>A) | |
| 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) |