Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35848114del | CA16041979 | NPHS1 | c.1369del (p.Ala457LeufsTer5) n.376del | ClinVar dbSNP |
19 | g.35848114C>A | CA405404120 | NPHS1 | c.1367G>T (p.Arg456Leu) n.374G>T | |
19 | g.35848114C= | CA2333850462 | NPHS1 | c.1367G= (p.Arg456=) n.374G= | |
19 | g.35848114C>G | CA405404124 | NPHS1 | c.1367G>C (p.Arg456Pro) n.374G>C | |
19 | g.35848114C>T | CA9390453 | NPHS1 | c.1367G>A (p.Arg456Gln) n.374G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35848115G>A | CA9390454 | NPHS1 | c.1366C>T (p.Arg456Trp) n.373C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35848115G>C | CA405404134 | NPHS1 | c.1366C>G (p.Arg456Gly) n.373C>G | |
19 | g.35848115G= | CA2333849905 | NPHS1 | c.1366C= (p.Arg456=) n.373C= | |
19 | g.35848115G>T | CA507314344 | NPHS1 | c.1366C>A (p.Arg456=) n.373C>A | |
19 | g.35848116G>A | CA507314347 | NPHS1 | c.1365C>T (p.Leu455=) n.372C>T | ClinVar |
19 | g.35848116G>C | CA507314345 | NPHS1 | c.1365C>G (p.Leu455=) n.372C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35848116G= | CA2333849906 | NPHS1 | c.1365C= (p.Leu455=) n.372C= | |
19 | g.35848116G>T | CA507314346 | NPHS1 | c.1365C>A (p.Leu455=) n.372C>A | |
19 | g.35848117A>C | CA405404149 | NPHS1 | c.1364T>G (p.Leu455Arg) n.371T>G | |
19 | g.35848117A>G | CA405404145 | NPHS1 | c.1364T>C (p.Leu455Pro) n.371T>C | |
19 | g.35848117A>T | CA405404140 | NPHS1 | c.1364T>A (p.Leu455His) n.371T>A | |
19 | g.35848118G>A | CA405404154 | NPHS1 | c.1363C>T (p.Leu455Phe) n.370C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848118G>C | CA405404157 | NPHS1 | c.1363C>G (p.Leu455Val) n.370C>G | gnomAD v4 |
19 | g.35848118G= | CA2333849907 | NPHS1 | c.1363C= (p.Leu455=) n.370C= | |
19 | g.35848118G>T | CA405404161 | NPHS1 | c.1363C>A (p.Leu455Ile) n.370C>A | gnomAD v4 |
19 | g.35848119C>A | CA405404165 | NPHS1 | c.1362G>T (p.Lys454Asn) n.369G>T | |
19 | g.35848119C>G | CA405404175 | NPHS1 | c.1362G>C (p.Lys454Asn) n.369G>C | |
19 | g.35848119C>T | CA507314348 | NPHS1 | c.1362G>A (p.Lys454=) n.369G>A | gnomAD v4 |
19 | g.35848120T>A | CA405404177 | NPHS1 | c.1361A>T (p.Lys454Met) n.368A>T | |
19 | g.35848120T>C | CA405404181 | NPHS1 | c.1361A>G (p.Lys454Arg) n.368A>G | |
19 | g.35848120T>G | CA405404185 | NPHS1 | c.1361A>C (p.Lys454Thr) n.368A>C | |
19 | g.35848121T>A | CA405404192 | NPHS1 | c.1360A>T (p.Lys454Ter) n.367A>T | |
19 | g.35848121T>C | CA405404193 | NPHS1 | c.1360A>G (p.Lys454Glu) n.367A>G | |
19 | g.35848121T>G | CA405404194 | NPHS1 | c.1360A>C (p.Lys454Gln) n.367A>C | |
19 | g.35848122C>A | CA405404195 | NPHS1 | c.1359G>T (p.Gln453His) n.366G>T | |
19 | g.35848122C>G | CA405404196 | NPHS1 | c.1359G>C (p.Gln453His) n.366G>C | gnomAD v4 |
19 | g.35848122C>T | CA507314349 | NPHS1 | c.1359G>A (p.Gln453=) n.366G>A | COSMIC |
19 | g.35848123T>A | CA405404202 | NPHS1 | c.1358A>T (p.Gln453Leu) n.365A>T | |
19 | g.35848123T>C | CA405404205 | NPHS1 | c.1358A>G (p.Gln453Arg) n.365A>G | |
19 | g.35848123T>G | CA405404200 | NPHS1 | c.1358A>C (p.Gln453Pro) n.365A>C | |
19 | g.35848124G>A | CA405404210 | NPHS1 | c.1357C>T (p.Gln453Ter) n.364C>T | |
19 | g.35848124G>C | CA405404218 | NPHS1 | c.1357C>G (p.Gln453Glu) n.364C>G | |
19 | g.35848124G>T | CA405404215 | NPHS1 | c.1357C>A (p.Gln453Lys) n.364C>A | gnomAD v4 |
19 | g.35848125G>A | CA507314351 | NPHS1 | c.1356C>T (p.Gly452=) n.363C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35848125G>C | CA507314352 | NPHS1 | c.1356C>G (p.Gly452=) n.363C>G | gnomAD v4 |
19 | g.35848125G= | CA2333849908 | NPHS1 | c.1356C= (p.Gly452=) n.363C= | |
19 | g.35848125G>T | CA507314350 | NPHS1 | c.1356C>A (p.Gly452=) n.363C>A | |
19 | g.35848126C>A | CA405404223 | NPHS1 | c.1355G>T (p.Gly452Val) n.362G>T | |
19 | g.35848126C= | CA2333849909 | NPHS1 | c.1355G= (p.Gly452=) n.362G= | |
19 | g.35848126C>G | CA405404227 | NPHS1 | c.1355G>C (p.Gly452Ala) n.362G>C | |
19 | g.35848126C>T | CA405404233 | NPHS1 | c.1355G>A (p.Gly452Asp) n.362G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35848127C>A | CA405404237 | NPHS1 | c.1354G>T (p.Gly452Cys) n.361G>T | |
19 | g.35848127C>G | CA405404240 | NPHS1 | c.1354G>C (p.Gly452Arg) n.361G>C | |
19 | g.35848127C>T | CA405404244 | NPHS1 | c.1354G>A (p.Gly452Ser) n.361G>A | |
19 | g.35848128C>A | CA405404247 | NPHS1 | c.1353G>T (p.Glu451Asp) n.360G>T |