Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.179575582A>G | CA645518942 | NPHS2 | c.274+9T>C (n.274+9T>C) | COSMIC |
1 | g.179575585C>A | CA2746821918 | NPHS2 | c.274+6G>T (n.274+6G>T) | |
1 | g.179575586C= | CA1210326625 | NPHS2 | c.274+5G= (n.274+5G=) | |
1 | g.179575586C>T | CA527598218 | NPHS2 | c.274+5G>A (n.274+5G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575587G>A | CA1267283 | NPHS2 | c.274+4C>T (n.274+4C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575587G= | CA1210326626 | NPHS2 | c.274+4C= (n.274+4C=) | |
1 | g.179575587G>T | CA527598219 | NPHS2 | c.274+4C>A (n.274+4C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575589A>C | CA343552355 | NPHS2 | c.274+2T>G (n.274+2T>G) | |
1 | g.179575589A>G | CA343552358 | NPHS2 | c.274+2T>C (n.274+2T>C) | |
1 | g.179575589A>T | CA343552361 | NPHS2 | c.274+2T>A (n.274+2T>A) | |
1 | g.179575590C>A | CA343552379 | NPHS2 | c.274+1G>T (n.274+1G>T) | ClinVar gnomAD v4 |
1 | g.179575590C>G | CA343552383 | NPHS2 | c.274+1G>C (n.274+1G>C) | |
1 | g.179575590C>T | CA343552386 | NPHS2 | c.274+1G>A (n.274+1G>A) | |
1 | g.179575591C>A | CA117454 | NPHS2 | c.274G>T (p.Gly92Cys) | ClinVar dbSNP COSMIC |
1 | g.179575591C= | CA1140886939 | NPHS2 | c.274G= (p.Gly92=) | |
1 | g.179575591C>G | CA343552402 | NPHS2 | c.274G>C (p.Gly92Arg) | dbSNP |
1 | g.179575591C>T | CA343552395 | NPHS2 | c.274G>A (p.Gly92Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.179575592T>A | CA343552409 | NPHS2 | c.273A>T (p.Glu91Asp) | gnomAD v4 |
1 | g.179575592T>C | CA1267284 | NPHS2 | c.273A>G (p.Glu91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575592T>G | CA343552413 | NPHS2 | c.273A>C (p.Glu91Asp) | |
1 | g.179575592T= | CA1148293513 | NPHS2 | c.273A= (p.Glu91=) | |
1 | g.179575593T>A | CA343552416 | NPHS2 | c.272A>T (p.Glu91Val) | |
1 | g.179575593T>C | CA33653739 | NPHS2 | c.272A>G (p.Glu91Gly) | dbSNP |
1 | g.179575593T>G | CA343552441 | NPHS2 | c.272A>C (p.Glu91Ala) | |
1 | g.179575593T= | CA1140978631 | NPHS2 | c.272A= (p.Glu91=) | |
1 | g.179575594C>A | CA343552448 | NPHS2 | c.271G>T (p.Glu91Ter) | |
1 | g.179575594C>G | CA343552452 | NPHS2 | c.271G>C (p.Glu91Gln) | |
1 | g.179575594C>T | CA343552454 | NPHS2 | c.271G>A (p.Glu91Lys) | gnomAD v4 COSMIC |
1 | g.179575595C>A | CA343552457 | NPHS2 | c.270G>T (p.Glu90Asp) | gnomAD v4 |
1 | g.179575595C= | CA1210326627 | NPHS2 | c.270G= (p.Glu90=) | |
1 | g.179575595C>G | CA343552469 | NPHS2 | c.270G>C (p.Glu90Asp) | |
1 | g.179575595C>T | CA421995395 | NPHS2 | c.270G>A (p.Glu90=) | dbSNP gnomAD v4 |
1 | g.179575598_179575610del | CA2582342426 | NPHS2 | c.258_270del (p.Ser86ArgfsTer9) c.258_270del (p.Ser86ArgfsTer?) | ClinVar |
1 | g.179575596T>A | CA343552473 | NPHS2 | c.269A>T (p.Glu90Val) | |
1 | g.179575596T>C | CA343552478 | NPHS2 | c.269A>G (p.Glu90Gly) | |
1 | g.179575596T>G | CA343552482 | NPHS2 | c.269A>C (p.Glu90Ala) | |
1 | g.179575597C>A | CA343552494 | NPHS2 | c.268G>T (p.Glu90Ter) | |
1 | g.179575597C= | CA1210326628 | NPHS2 | c.268G= (p.Glu90=) | |
1 | g.179575597C>G | CA343552491 | NPHS2 | c.268G>C (p.Glu90Gln) | |
1 | g.179575597C>T | CA343552484 | NPHS2 | c.268G>A (p.Glu90Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575598G>A | CA421995440 | NPHS2 | c.267C>T (p.Pro89=) | gnomAD v4 |
1 | g.179575598G>C | CA1267285 | NPHS2 | c.267C>G (p.Pro89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575598G= | CA1210326629 | NPHS2 | c.267C= (p.Pro89=) | |
1 | g.179575598G>T | CA421995435 | NPHS2 | c.267C>A (p.Pro89=) | gnomAD v4 |
1 | g.179575600del | CA2649317004 | NPHS2 | c.267del (p.Glu90ArgfsTer9) c.267del (p.Glu90ArgfsTer?) | gnomAD v4 |
1 | g.179575599G>A | CA343552497 | NPHS2 | c.266C>T (p.Pro89Leu) | gnomAD v4 COSMIC |
1 | g.179575599G>C | CA343552502 | NPHS2 | c.266C>G (p.Pro89Arg) | |
1 | g.179575599G>T | CA343552504 | NPHS2 | c.266C>A (p.Pro89His) | gnomAD v4 |
1 | g.179575600G>A | CA343552508 | NPHS2 | c.265C>T (p.Pro89Ser) | gnomAD v4 |
1 | g.179575600G>C | CA343552513 | NPHS2 | c.265C>G (p.Pro89Ala) |