Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35849599_35849601delinsGCT | CA2333850975 | NPHS1 | c.661_663delinsAGC (p.Ser221=) | |
19 | g.35849600C>A | CA405408215 | NPHS1 | c.662G>T (p.Ser221Ile) | |
19 | g.35849600C>G | CA405408217 | NPHS1 | c.662G>C (p.Ser221Thr) | |
19 | g.35849600C>T | CA405408218 | NPHS1 | c.662G>A (p.Ser221Asn) | |
19 | g.35849600_35849601del | CA250266 | NPHS1 | c.661_662del (p.Ser221ProfsTer?) | ClinVar dbSNP |
19 | g.35849601T>A | CA405408226 | NPHS1 | c.661A>T (p.Ser221Cys) | |
19 | g.35849601T>C | CA405408229 | NPHS1 | c.661A>G (p.Ser221Gly) | gnomAD v4 |
19 | g.35849601T>G | CA405408241 | NPHS1 | c.661A>C (p.Ser221Arg) | |
19 | g.35849602A>C | CA507085406 | NPHS1 | c.660T>G (p.Ser220=) | |
19 | g.35849602A>G | CA507085408 | NPHS1 | c.660T>C (p.Ser220=) | |
19 | g.35849602A>T | CA507085410 | NPHS1 | c.660T>A (p.Ser220=) | |
19 | g.35849603G>A | CA405408244 | NPHS1 | c.659C>T (p.Ser220Phe) | |
19 | g.35849603G>C | CA405408247 | NPHS1 | c.659C>G (p.Ser220Cys) | |
19 | g.35849603G>T | CA405408251 | NPHS1 | c.659C>A (p.Ser220Tyr) | |
19 | g.35849604A= | CA2333850976 | NPHS1 | c.658T= (p.Ser220=) | |
19 | g.35849604A>C | CA9390706 | NPHS1 | c.658T>G (p.Ser220Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849604A>G | CA405408253 | NPHS1 | c.658T>C (p.Ser220Pro) | |
19 | g.35849604A>T | CA405408252 | NPHS1 | c.658T>A (p.Ser220Thr) | gnomAD v4 |
19 | g.35849605C>A | CA507085419 | NPHS1 | c.657G>T (p.Ala219=) | |
19 | g.35849605C= | CA2333850977 | NPHS1 | c.657G= (p.Ala219=) | |
19 | g.35849605C>G | CA507085421 | NPHS1 | c.657G>C (p.Ala219=) | |
19 | g.35849605C>T | CA9390707 | NPHS1 | c.657G>A (p.Ala219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35849606G>A | CA9390708 | NPHS1 | c.656C>T (p.Ala219Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35849606G>C | CA405408260 | NPHS1 | c.656C>G (p.Ala219Gly) | |
19 | g.35849606G= | CA2333850978 | NPHS1 | c.656C= (p.Ala219=) | |
19 | g.35849606G>T | CA405408262 | NPHS1 | c.656C>A (p.Ala219Glu) | |
19 | g.35849607C>A | CA405408269 | NPHS1 | c.655G>T (p.Ala219Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849607C= | CA2333850979 | NPHS1 | c.655G= (p.Ala219=) | |
19 | g.35849607C>G | CA405408273 | NPHS1 | c.655G>C (p.Ala219Pro) | |
19 | g.35849607C>T | CA405408275 | NPHS1 | c.655G>A (p.Ala219Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849608C>A | CA405408277 | NPHS1 | c.654G>T (p.Glu218Asp) | |
19 | g.35849608C>G | CA405408279 | NPHS1 | c.654G>C (p.Glu218Asp) | |
19 | g.35849608C>T | CA507085437 | NPHS1 | c.654G>A (p.Glu218=) | |
19 | g.35849609T>A | CA405408284 | NPHS1 | c.653A>T (p.Glu218Val) | |
19 | g.35849609T>C | CA405408286 | NPHS1 | c.653A>G (p.Glu218Gly) | |
19 | g.35849609T>G | CA405408290 | NPHS1 | c.653A>C (p.Glu218Ala) | |
19 | g.35849610C>A | CA405408301 | NPHS1 | c.652G>T (p.Glu218Ter) | |
19 | g.35849610C>G | CA405408294 | NPHS1 | c.652G>C (p.Glu218Gln) | |
19 | g.35849610C>T | CA405408296 | NPHS1 | c.652G>A (p.Glu218Lys) | gnomAD v4 |
19 | g.35849612_35849613del | CA2695228644 | NPHS1 | c.651_652del (p.Cys217Ter) | |
19 | g.35849611A>C | CA405408304 | NPHS1 | c.651T>G (p.Cys217Trp) | COSMIC |
19 | g.35849611A>G | CA507085444 | NPHS1 | c.651T>C (p.Cys217=) | |
19 | g.35849611A>T | CA405408308 | NPHS1 | c.651T>A (p.Cys217Ter) | |
19 | g.35849612C>A | CA405408316 | NPHS1 | c.650G>T (p.Cys217Phe) | |
19 | g.35849612C>G | CA405408317 | NPHS1 | c.650G>C (p.Cys217Ser) | |
19 | g.35849612C>T | CA405408321 | NPHS1 | c.650G>A (p.Cys217Tyr) | |
19 | g.35849613del | CA2573156265 | NPHS1 | c.649del (p.Cys217ValfsTer18) | ClinVar dbSNP |
19 | g.35849613A>C | CA405408329 | NPHS1 | c.649T>G (p.Cys217Gly) | |
19 | g.35849613A>G | CA405408333 | NPHS1 | c.649T>C (p.Cys217Arg) | |
19 | g.35849613A>T | CA405408336 | NPHS1 | c.649T>A (p.Cys217Ser) |