Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35826547A>C | CA507091290 | NPHS1 | c.3693T>G (p.Ser1231=) c.3573T>G (p.Ser1191=) | |
19 | g.35826547A>G | CA507091291 | NPHS1 | c.3693T>C (p.Ser1231=) c.3573T>C (p.Ser1191=) | ClinVar dbSNP gnomAD v4 |
19 | g.35826547A>T | CA507091292 | NPHS1 | c.3693T>A (p.Ser1231=) c.3573T>A (p.Ser1191=) | |
19 | g.35826548G>A | CA405415045 | NPHS1 | c.3692C>T (p.Ser1231Phe) c.3572C>T (p.Ser1191Phe) | COSMIC |
19 | g.35826548G>C | CA405415046 | NPHS1 | c.3692C>G (p.Ser1231Cys) c.3572C>G (p.Ser1191Cys) | |
19 | g.35826548G>T | CA405415047 | NPHS1 | c.3692C>A (p.Ser1231Tyr) c.3572C>A (p.Ser1191Tyr) | |
19 | g.35826549A>C | CA405415050 | NPHS1 | c.3691T>G (p.Ser1231Ala) c.3571T>G (p.Ser1191Ala) | |
19 | g.35826549A>G | CA405415049 | NPHS1 | c.3691T>C (p.Ser1231Pro) c.3571T>C (p.Ser1191Pro) | gnomAD v4 |
19 | g.35826549A>T | CA405415048 | NPHS1 | c.3691T>A (p.Ser1231Thr) c.3571T>A (p.Ser1191Thr) | |
19 | g.35826550A>C | CA405415051 | NPHS1 | c.3690T>G (p.Asp1230Glu) c.3570T>G (p.Asp1190Glu) | |
19 | g.35826550A>G | CA507091293 | NPHS1 | c.3690T>C (p.Asp1230=) c.3570T>C (p.Asp1190=) | |
19 | g.35826550A>T | CA405415052 | NPHS1 | c.3690T>A (p.Asp1230Glu) c.3570T>A (p.Asp1190Glu) | |
19 | g.35826551T>A | CA405415053 | NPHS1 | c.3689A>T (p.Asp1230Val) c.3569A>T (p.Asp1190Val) | |
19 | g.35826551T>C | CA405415054 | NPHS1 | c.3689A>G (p.Asp1230Gly) c.3569A>G (p.Asp1190Gly) | |
19 | g.35826551T>G | CA405415055 | NPHS1 | c.3689A>C (p.Asp1230Ala) c.3569A>C (p.Asp1190Ala) | |
19 | g.35826552C>A | CA405415056 | NPHS1 | c.3688G>T (p.Asp1230Tyr) c.3568G>T (p.Asp1190Tyr) | dbSNP |
19 | g.35826552C= | CA2333840018 | NPHS1 | c.3688G= (p.Asp1230=) c.3568G= (p.Asp1190=) | |
19 | g.35826552C>G | CA405415057 | NPHS1 | c.3688G>C (p.Asp1230His) c.3568G>C (p.Asp1190His) | |
19 | g.35826552C>T | CA307827427 | NPHS1 | c.3688G>A (p.Asp1230Asn) c.3568G>A (p.Asp1190Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.35826553G>A | CA9389669 | NPHS1 | c.3687C>T (p.Pro1229=) c.3567C>T (p.Pro1189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826553G>C | CA507091297 | NPHS1 | c.3687C>G (p.Pro1229=) c.3567C>G (p.Pro1189=) | gnomAD v4 |
19 | g.35826553G= | CA2333840019 | NPHS1 | c.3687C= (p.Pro1229=) c.3567C= (p.Pro1189=) | |
19 | g.35826553G>T | CA507091298 | NPHS1 | c.3687C>A (p.Pro1229=) c.3567C>A (p.Pro1189=) | |
19 | g.35826554G>A | CA405415058 | NPHS1 | c.3686C>T (p.Pro1229Leu) c.3566C>T (p.Pro1189Leu) | |
19 | g.35826554G>C | CA405415059 | NPHS1 | c.3686C>G (p.Pro1229Arg) c.3566C>G (p.Pro1189Arg) | |
19 | g.35826554G>T | CA405415060 | NPHS1 | c.3686C>A (p.Pro1229His) c.3566C>A (p.Pro1189His) | dbSNP |
19 | g.35826554_35826555delinsAA | CA645604847 | NPHS1 | c.3685_3686delinsTT (p.Pro1229Phe) c.3565_3566delinsTT (p.Pro1189Phe) | COSMIC |
19 | g.35826555G>A | CA405415061 | NPHS1 | c.3685C>T (p.Pro1229Ser) c.3565C>T (p.Pro1189Ser) | gnomAD v4 |
19 | g.35826555G>C | CA405415062 | NPHS1 | c.3685C>G (p.Pro1229Ala) c.3565C>G (p.Pro1189Ala) | |
19 | g.35826555G= | CA2333840020 | NPHS1 | c.3685C= (p.Pro1229=) c.3565C= (p.Pro1189=) | |
19 | g.35826555G>T | CA9389670 | NPHS1 | c.3685C>A (p.Pro1229Thr) c.3565C>A (p.Pro1189Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826556T>A | CA405415064 | NPHS1 | c.3684A>T (p.Glu1228Asp) c.3564A>T (p.Glu1188Asp) | gnomAD v4 |
19 | g.35826556T>C | CA507091302 | NPHS1 | c.3684A>G (p.Glu1228=) c.3564A>G (p.Glu1188=) | |
19 | g.35826556T>G | CA405415063 | NPHS1 | c.3684A>C (p.Glu1228Asp) c.3564A>C (p.Glu1188Asp) | |
19 | g.35826557T>A | CA405415065 | NPHS1 | c.3683A>T (p.Glu1228Val) c.3563A>T (p.Glu1188Val) | |
19 | g.35826557T>C | CA405415066 | NPHS1 | c.3683A>G (p.Glu1228Gly) c.3563A>G (p.Glu1188Gly) | |
19 | g.35826557T>G | CA405415067 | NPHS1 | c.3683A>C (p.Glu1228Ala) c.3563A>C (p.Glu1188Ala) | |
19 | g.35826558C>A | CA405415068 | NPHS1 | c.3682G>T (p.Glu1228Ter) c.3562G>T (p.Glu1188Ter) | COSMIC |
19 | g.35826558C= | CA2333840021 | NPHS1 | c.3682G= (p.Glu1228=) c.3562G= (p.Glu1188=) | |
19 | g.35826558C>G | CA9389671 | NPHS1 | c.3682G>C (p.Glu1228Gln) c.3562G>C (p.Glu1188Gln) | dbSNP ExAC gnomAD v2 |
19 | g.35826558C>T | CA405415069 | NPHS1 | c.3682G>A (p.Glu1228Lys) c.3562G>A (p.Glu1188Lys) | COSMIC |
19 | g.35826559C>A | CA507091303 | NPHS1 | c.3681G>T (p.Leu1227=) c.3561G>T (p.Leu1187=) | |
19 | g.35826559C>G | CA507091304 | NPHS1 | c.3681G>C (p.Leu1227=) c.3561G>C (p.Leu1187=) | |
19 | g.35826559C>T | CA507091305 | NPHS1 | c.3681G>A (p.Leu1227=) c.3561G>A (p.Leu1187=) | |
19 | g.35826560A>C | CA405415070 | NPHS1 | c.3680T>G (p.Leu1227Arg) c.3560T>G (p.Leu1187Arg) | |
19 | g.35826560A>G | CA405415071 | NPHS1 | c.3680T>C (p.Leu1227Pro) c.3560T>C (p.Leu1187Pro) | |
19 | g.35826560A>T | CA405415072 | NPHS1 | c.3680T>A (p.Leu1227Gln) c.3560T>A (p.Leu1187Gln) | |
19 | g.35826561G>A | CA507091306 | NPHS1 | c.3679C>T (p.Leu1227=) c.3559C>T (p.Leu1187=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826561G>C | CA9389672 | NPHS1 | c.3679C>G (p.Leu1227Val) c.3559C>G (p.Leu1187Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826561G= | CA2333840022 | NPHS1 | c.3679C= (p.Leu1227=) c.3559C= (p.Leu1187=) |