Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35851608_35851610delinsCAG | CA2333851927 | NPHS1 | c.121_123delinsCTG (p.Leu41=) | |
19 | g.35851609A= | CA2333851928 | NPHS1 | c.122T= (p.Leu41=) | |
19 | g.35851609A>C | CA405412240 | NPHS1 | c.122T>G (p.Leu41Arg) | |
19 | g.35851609A>G | CA405412243 | NPHS1 | c.122T>C (p.Leu41Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35851609A>T | CA405412244 | NPHS1 | c.122T>A (p.Leu41Gln) | gnomAD v4 |
19 | g.35851609_35851610del | CA344732 | NPHS1 | c.121_122del (p.Leu41AspfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35851610G>A | CA507086356 | NPHS1 | c.121C>T (p.Leu41=) | |
19 | g.35851610G>C | CA405412246 | NPHS1 | c.121C>G (p.Leu41Val) | |
19 | g.35851610G>T | CA405412248 | NPHS1 | c.121C>A (p.Leu41Met) | |
19 | g.35851611G>A | CA507086357 | NPHS1 | c.120C>T (p.Asn40=) | |
19 | g.35851611G>C | CA405412250 | NPHS1 | c.120C>G (p.Asn40Lys) | |
19 | g.35851611G>T | CA405412252 | NPHS1 | c.120C>A (p.Asn40Lys) | |
19 | g.35851612T>A | CA405412255 | NPHS1 | c.119A>T (p.Asn40Ile) | |
19 | g.35851612T>C | CA405412256 | NPHS1 | c.119A>G (p.Asn40Ser) | |
19 | g.35851612T>G | CA307791134 | NPHS1 | c.119A>C (p.Asn40Thr) | dbSNP |
19 | g.35851612T= | CA2333851929 | NPHS1 | c.119A= (p.Asn40=) | |
19 | g.35851613T>A | CA405412260 | NPHS1 | c.118A>T (p.Asn40Tyr) | |
19 | g.35851613T>C | CA405412261 | NPHS1 | c.118A>G (p.Asn40Asp) | |
19 | g.35851613T>G | CA405412263 | NPHS1 | c.118A>C (p.Asn40His) | |
19 | g.35851614T>A | CA405412265 | NPHS1 | c.117A>T (p.Glu39Asp) | |
19 | g.35851614T>C | CA507086358 | NPHS1 | c.117A>G (p.Glu39=) | |
19 | g.35851614T>G | CA405412266 | NPHS1 | c.117A>C (p.Glu39Asp) | |
19 | g.35851615T>A | CA405412268 | NPHS1 | c.116A>T (p.Glu39Val) | |
19 | g.35851615T>C | CA405412271 | NPHS1 | c.116A>G (p.Glu39Gly) | |
19 | g.35851615T>G | CA405412269 | NPHS1 | c.116A>C (p.Glu39Ala) | |
19 | g.35851616C>A | CA405412274 | NPHS1 | c.115G>T (p.Glu39Ter) | |
19 | g.35851616C= | CA2333851930 | NPHS1 | c.115G= (p.Glu39=) | |
19 | g.35851616C>G | CA405412275 | NPHS1 | c.115G>C (p.Glu39Gln) | |
19 | g.35851616C>T | CA9390910 | NPHS1 | c.115G>A (p.Glu39Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35851617A>C | CA507086359 | NPHS1 | c.114T>G (p.Pro38=) | |
19 | g.35851617A>G | CA507086360 | NPHS1 | c.114T>C (p.Pro38=) | dbSNP |
19 | g.35851617A>T | CA507086361 | NPHS1 | c.114T>A (p.Pro38=) | |
19 | g.35851618G>A | CA405412278 | NPHS1 | c.113C>T (p.Pro38Leu) | |
19 | g.35851618G>C | CA405412279 | NPHS1 | c.113C>G (p.Pro38Arg) | |
19 | g.35851618G>T | CA405412281 | NPHS1 | c.113C>A (p.Pro38His) | |
19 | g.35851619del | CA2584604476 | NPHS1 | c.113del (p.Pro38LeufsTer4) | gnomAD v4 |
19 | g.35851619G>A | CA405412282 | NPHS1 | c.112C>T (p.Pro38Ser) | |
19 | g.35851619G>C | CA405412284 | NPHS1 | c.112C>G (p.Pro38Ala) | |
19 | g.35851619G>T | CA405412286 | NPHS1 | c.112C>A (p.Pro38Thr) | |
19 | g.35851619_35851620insA | CA2584604477 | NPHS1 | c.111_112insT (p.Pro38SerfsTer2) | gnomAD v4 |
19 | g.35851620C>A | CA507086362 | NPHS1 | c.111G>T (p.Leu37=) | gnomAD v4 |
19 | g.35851620C>G | CA507086364 | NPHS1 | c.111G>C (p.Leu37=) | |
19 | g.35851620C>T | CA507086363 | NPHS1 | c.111G>A (p.Leu37=) | |
19 | g.35851621A>C | CA405412292 | NPHS1 | c.110T>G (p.Leu37Arg) | |
19 | g.35851621A>G | CA405412290 | NPHS1 | c.110T>C (p.Leu37Pro) | |
19 | g.35851621A>T | CA405412288 | NPHS1 | c.110T>A (p.Leu37Gln) | |
19 | g.35851622G>A | CA507086365 | NPHS1 | c.109C>T (p.Leu37=) | COSMIC |
19 | g.35851622G>C | CA405412294 | NPHS1 | c.109C>G (p.Leu37Val) | gnomAD v4 |
19 | g.35851622G>T | CA405412296 | NPHS1 | c.109C>A (p.Leu37Met) | |
19 | g.35851624dup | CA2695198184 | NPHS1 | c.109dup (p.Leu37ProfsTer3) | ClinVar |