| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179575711_179575819del | CA2580061520 | NPHS2 | c.48_156del (p.Gly17ProfsTer?) | ClinVar |
| 1 | g.179575728G>A | CA343553566 | NPHS2 | c.137C>T (p.Ser46Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575728G>C | CA343553565 | NPHS2 | c.137C>G (p.Ser46Trp) | dbSNP gnomAD v4 |
| 1 | g.179575728G= | CA1210326698 | NPHS2 | c.137C= (p.Ser46=) | |
| 1 | g.179575728G>T | CA343553564 | NPHS2 | c.137C>A (p.Ser46Ter) | dbSNP gnomAD v4 |
| 1 | g.179575729A>C | CA343553567 | NPHS2 | c.136T>G (p.Ser46Ala) | |
| 1 | g.179575729A>G | CA343553568 | NPHS2 | c.136T>C (p.Ser46Pro) | |
| 1 | g.179575729A>T | CA343553570 | NPHS2 | c.136T>A (p.Ser46Thr) | |
| 1 | g.179575730C>A | CA421996971 | NPHS2 | c.135G>T (p.Pro45=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575730C= | CA1148377789 | NPHS2 | c.135G= (p.Pro45=) | |
| 1 | g.179575730C>G | CA1267309 | NPHS2 | c.135G>C (p.Pro45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575730C>T | CA33653944 | NPHS2 | c.135G>A (p.Pro45=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179575731_179575744dup | CA2580611213 | NPHS2 | c.122_135dup (p.Ser46LeufsTer?) | ClinVar |
| 1 | g.179575731G>A | CA343553588 | NPHS2 | c.134C>T (p.Pro45Leu) | gnomAD v4 |
| 1 | g.179575731G>C | CA1267310 | NPHS2 | c.134C>G (p.Pro45Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575731G= | CA1210326699 | NPHS2 | c.134C= (p.Pro45=) | |
| 1 | g.179575731G>T | CA343553601 | NPHS2 | c.134C>A (p.Pro45Gln) | gnomAD v4 |
| 1 | g.179575732del | CA2586967767 | NPHS2 | c.134del (p.Pro45ArgfsTer?) | |
| 1 | g.179575732G>A | CA343553604 | NPHS2 | c.133C>T (p.Pro45Ser) | gnomAD v4 |
| 1 | g.179575732G>C | CA343553606 | NPHS2 | c.133C>G (p.Pro45Ala) | |
| 1 | g.179575732G>T | CA343553610 | NPHS2 | c.133C>A (p.Pro45Thr) | dbSNP gnomAD v4 |
| 1 | g.179575733C>A | CA343553613 | NPHS2 | c.132G>T (p.Glu44Asp) | gnomAD v4 |
| 1 | g.179575733C= | CA1210326700 | NPHS2 | c.132G= (p.Glu44=) | |
| 1 | g.179575733C>G | CA343553615 | NPHS2 | c.132G>C (p.Glu44Asp) | |
| 1 | g.179575733C>T | CA1267311 | NPHS2 | c.132G>A (p.Glu44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575733dup | CA2586967768 | NPHS2 | c.132dup (p.Pro45AlafsTer25) | |
| 1 | g.179575734T>A | CA343553630 | NPHS2 | c.131A>T (p.Glu44Val) | |
| 1 | g.179575734T>C | CA343553633 | NPHS2 | c.131A>G (p.Glu44Gly) | gnomAD v4 |
| 1 | g.179575734T>G | CA343553624 | NPHS2 | c.131A>C (p.Glu44Ala) | |
| 1 | g.179575735C>A | CA343553635 | NPHS2 | c.130G>T (p.Glu44Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575735C= | CA1210326701 | NPHS2 | c.130G= (p.Glu44=) | |
| 1 | g.179575735C>G | CA343553634 | NPHS2 | c.130G>C (p.Glu44Gln) | |
| 1 | g.179575735C>T | CA1267312 | NPHS2 | c.130G>A (p.Glu44Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575736G>A | CA421997031 | NPHS2 | c.129C>T (p.Pro43=) | ClinVar dbSNP |
| 1 | g.179575736G>C | CA421997034 | NPHS2 | c.129C>G (p.Pro43=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575736G= | CA1210326702 | NPHS2 | c.129C= (p.Pro43=) | |
| 1 | g.179575736G>T | CA421997038 | NPHS2 | c.129C>A (p.Pro43=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179575738del | CA2649317010 | NPHS2 | c.129del (p.Glu44SerfsTer?) | gnomAD v4 |
| 1 | g.179575737G>A | CA343553636 | NPHS2 | c.128C>T (p.Pro43Leu) | |
| 1 | g.179575737G>C | CA343553637 | NPHS2 | c.128C>G (p.Pro43Arg) | |
| 1 | g.179575737G>T | CA343553639 | NPHS2 | c.128C>A (p.Pro43His) | gnomAD v4 |
| 1 | g.179575738G>A | CA343553641 | NPHS2 | c.127C>T (p.Pro43Ser) | gnomAD v4 |
| 1 | g.179575738G>C | CA33653980 | NPHS2 | c.127C>G (p.Pro43Ala) | dbSNP |
| 1 | g.179575738G= | CA1145654591 | NPHS2 | c.127C= (p.Pro43=) | |
| 1 | g.179575738G>T | CA343553646 | NPHS2 | c.127C>A (p.Pro43Thr) | gnomAD v4 |
| 1 | g.179575739C>A | CA421997051 | NPHS2 | c.126G>T (p.Gly42=) | gnomAD v4 |
| 1 | g.179575739C= | CA1210326703 | NPHS2 | c.126G= (p.Gly42=) | |
| 1 | g.179575739C>G | CA421997061 | NPHS2 | c.126G>C (p.Gly42=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575739C>T | CA1267313 | NPHS2 | c.126G>A (p.Gly42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575739_179575740delinsTT | CA645518943 | NPHS2 | c.125_126delinsAA (p.Gly42Glu) | COSMIC |