Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35831107_35831154dup | CA2814253474 | NPHS1 | c.3388-4_3431dup c.3268-4_3311dup | |
19 | g.35831116G>A | CA250229 | NPHS1 | c.3418C>T (p.Arg1140Cys) c.3298C>T (p.Arg1100Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35831116G>C | CA405416265 | NPHS1 | c.3418C>G (p.Arg1140Gly) c.3298C>G (p.Arg1100Gly) | gnomAD v4 |
19 | g.35831116G= | CA2333842013 | NPHS1 | c.3418C= (p.Arg1140=) c.3298C= (p.Arg1100=) | |
19 | g.35831116G>T | CA9389760 | NPHS1 | c.3418C>A (p.Arg1140Ser) c.3298C>A (p.Arg1100Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35831117G>A | CA507092636 | NPHS1 | c.3417C>T (p.Tyr1139=) c.3297C>T (p.Tyr1099=) | gnomAD v4 |
19 | g.35831117G>C | CA405416268 | NPHS1 | c.3417C>G (p.Tyr1139Ter) c.3297C>G (p.Tyr1099Ter) | |
19 | g.35831117G>T | CA405416271 | NPHS1 | c.3417C>A (p.Tyr1139Ter) c.3297C>A (p.Tyr1099Ter) | |
19 | g.35831118T>A | CA405416274 | NPHS1 | c.3416A>T (p.Tyr1139Phe) c.3296A>T (p.Tyr1099Phe) | |
19 | g.35831118T>C | CA405416277 | NPHS1 | c.3416A>G (p.Tyr1139Cys) c.3296A>G (p.Tyr1099Cys) | |
19 | g.35831118T>G | CA405416275 | NPHS1 | c.3416A>C (p.Tyr1139Ser) c.3296A>C (p.Tyr1099Ser) | |
19 | g.35831119A>C | CA405416279 | NPHS1 | c.3415T>G (p.Tyr1139Asp) c.3295T>G (p.Tyr1099Asp) | |
19 | g.35831119A>G | CA405416281 | NPHS1 | c.3415T>C (p.Tyr1139His) c.3295T>C (p.Tyr1099His) | gnomAD v4 |
19 | g.35831119A>T | CA405416282 | NPHS1 | c.3415T>A (p.Tyr1139Asn) c.3295T>A (p.Tyr1099Asn) | |
19 | g.35831120A>C | CA405416285 | NPHS1 | c.3414T>G (p.Tyr1138Ter) c.3294T>G (p.Tyr1098Ter) | |
19 | g.35831120A>G | CA507092643 | NPHS1 | c.3414T>C (p.Tyr1138=) c.3294T>C (p.Tyr1098=) | |
19 | g.35831120A>T | CA405416288 | NPHS1 | c.3414T>A (p.Tyr1138Ter) c.3294T>A (p.Tyr1098Ter) | |
19 | g.35831121T>A | CA405416291 | NPHS1 | c.3413A>T (p.Tyr1138Phe) c.3293A>T (p.Tyr1098Phe) | |
19 | g.35831121T>C | CA405416292 | NPHS1 | c.3413A>G (p.Tyr1138Cys) c.3293A>G (p.Tyr1098Cys) | |
19 | g.35831121T>G | CA405416294 | NPHS1 | c.3413A>C (p.Tyr1138Ser) c.3293A>C (p.Tyr1098Ser) | |
19 | g.35831122A= | CA2333842014 | NPHS1 | c.3412T= (p.Tyr1138=) c.3292T= (p.Tyr1098=) | |
19 | g.35831122A>C | CA405416297 | NPHS1 | c.3412T>G (p.Tyr1138Asp) c.3292T>G (p.Tyr1098Asp) | |
19 | g.35831122A>G | CA405416300 | NPHS1 | c.3412T>C (p.Tyr1138His) c.3292T>C (p.Tyr1098His) | dbSNP |
19 | g.35831122A>T | CA405416302 | NPHS1 | c.3412T>A (p.Tyr1138Asn) c.3292T>A (p.Tyr1098Asn) | |
19 | g.35831123del | CA2584601440 | NPHS1 | c.3411del (p.Tyr1138IlefsTer5) c.3291del (p.Tyr1098IlefsTer5) | gnomAD v4 |
19 | g.35831123C>A | CA507092654 | NPHS1 | c.3411G>T (p.Pro1137=) c.3291G>T (p.Pro1097=) | |
19 | g.35831123C= | CA2333842015 | NPHS1 | c.3411G= (p.Pro1137=) c.3291G= (p.Pro1097=) | |
19 | g.35831123C>G | CA507092650 | NPHS1 | c.3411G>C (p.Pro1137=) c.3291G>C (p.Pro1097=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35831123C>T | CA9389761 | NPHS1 | c.3411G>A (p.Pro1137=) c.3291G>A (p.Pro1097=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35831124G>A | CA9389763 | NPHS1 | c.3410C>T (p.Pro1137Leu) c.3290C>T (p.Pro1097Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35831124G>C | CA9389762 | NPHS1 | c.3410C>G (p.Pro1137Arg) c.3290C>G (p.Pro1097Arg) | dbSNP ExAC gnomAD v2 |
19 | g.35831124G= | CA2333842016 | NPHS1 | c.3410C= (p.Pro1137=) c.3290C= (p.Pro1097=) | |
19 | g.35831124G>T | CA405416307 | NPHS1 | c.3410C>A (p.Pro1137Gln) c.3290C>A (p.Pro1097Gln) | |
19 | g.35831125G>A | CA405416316 | NPHS1 | c.3409C>T (p.Pro1137Ser) c.3289C>T (p.Pro1097Ser) | |
19 | g.35831125G>C | CA405416311 | NPHS1 | c.3409C>G (p.Pro1137Ala) c.3289C>G (p.Pro1097Ala) | |
19 | g.35831125G>T | CA405416314 | NPHS1 | c.3409C>A (p.Pro1137Thr) c.3289C>A (p.Pro1097Thr) | gnomAD v4 |
19 | g.35831126C>A | CA405416318 | NPHS1 | c.3408G>T (p.Glu1136Asp) c.3288G>T (p.Glu1096Asp) | |
19 | g.35831126C= | CA2333842017 | NPHS1 | c.3408G= (p.Glu1136=) c.3288G= (p.Glu1096=) | |
19 | g.35831126C>G | CA405416319 | NPHS1 | c.3408G>C (p.Glu1136Asp) c.3288G>C (p.Glu1096Asp) | |
19 | g.35831126C>T | CA507092663 | NPHS1 | c.3408G>A (p.Glu1136=) c.3288G>A (p.Glu1096=) | dbSNP |
19 | g.35831127T>A | CA405416321 | NPHS1 | c.3407A>T (p.Glu1136Val) c.3287A>T (p.Glu1096Val) | |
19 | g.35831127T>C | CA405416322 | NPHS1 | c.3407A>G (p.Glu1136Gly) c.3287A>G (p.Glu1096Gly) | gnomAD v4 |
19 | g.35831127T>G | CA405416325 | NPHS1 | c.3407A>C (p.Glu1136Ala) c.3287A>C (p.Glu1096Ala) | |
19 | g.35831128C>A | CA405416328 | NPHS1 | c.3406G>T (p.Glu1136Ter) c.3286G>T (p.Glu1096Ter) | |
19 | g.35831128C= | CA2333842018 | NPHS1 | c.3406G= (p.Glu1136=) c.3286G= (p.Glu1096=) | |
19 | g.35831128C>G | CA405416330 | NPHS1 | c.3406G>C (p.Glu1136Gln) c.3286G>C (p.Glu1096Gln) | |
19 | g.35831128C>T | CA405416331 | NPHS1 | c.3406G>A (p.Glu1136Lys) c.3286G>A (p.Glu1096Lys) | dbSNP gnomAD v4 |
19 | g.35831129T>A | CA507092671 | NPHS1 | c.3405A>T (p.Ala1135=) c.3285A>T (p.Ala1095=) | |
19 | g.35831129T>C | CA507092674 | NPHS1 | c.3405A>G (p.Ala1135=) c.3285A>G (p.Ala1095=) | |
19 | g.35831129T>G | CA507092676 | NPHS1 | c.3405A>C (p.Ala1135=) c.3285A>C (p.Ala1095=) |