Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35841753_35841760delinsAGGGCGTT | CA2333847196 | NPHS1 | c.2770_2777delinsAACGCCCT (p.Asn924=) | |
19 | g.35841756_35841762del | CA250208 | NPHS1 | c.2770_2776del (p.Asn924LeufsTer22) | ClinVar dbSNP |
19 | g.35841755_35841762del | CA2695228611 | NPHS1 | c.2769_2776del (p.Asn924TrpfsTer16) | |
19 | g.35841756G>A | CA405389430 | NPHS1 | c.2774C>T (p.Ala925Val) | gnomAD v4 |
19 | g.35841756G>C | CA405389449 | NPHS1 | c.2774C>G (p.Ala925Gly) | |
19 | g.35841756G>T | CA405389451 | NPHS1 | c.2774C>A (p.Ala925Asp) | gnomAD v4 |
19 | g.35841757C>A | CA405389456 | NPHS1 | c.2773G>T (p.Ala925Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35841757C= | CA2333847197 | NPHS1 | c.2773G= (p.Ala925=) | |
19 | g.35841757C>G | CA405389464 | NPHS1 | c.2773G>C (p.Ala925Pro) | |
19 | g.35841757C>T | CA405389452 | NPHS1 | c.2773G>A (p.Ala925Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35841758del | CA2584602117 | NPHS1 | c.2772del (p.Asn924LysfsTer24) | gnomAD v4 |
19 | g.35841758G>A | CA9390031 | NPHS1 | c.2772C>T (p.Asn924=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35841758G>C | CA405389476 | NPHS1 | c.2772C>G (p.Asn924Lys) | |
19 | g.35841758G= | CA2333847198 | NPHS1 | c.2772C= (p.Asn924=) | |
19 | g.35841758G>T | CA405389479 | NPHS1 | c.2772C>A (p.Asn924Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35841759T>A | CA405389486 | NPHS1 | c.2771A>T (p.Asn924Ile) | |
19 | g.35841759T>C | CA405389487 | NPHS1 | c.2771A>G (p.Asn924Ser) | |
19 | g.35841759T>G | CA405389488 | NPHS1 | c.2771A>C (p.Asn924Thr) | |
19 | g.35841760T>A | CA405389489 | NPHS1 | c.2770A>T (p.Asn924Tyr) | |
19 | g.35841760T>C | CA405389493 | NPHS1 | c.2770A>G (p.Asn924Asp) | |
19 | g.35841760T>G | CA405389497 | NPHS1 | c.2770A>C (p.Asn924His) | |
19 | g.35841761G>A | CA507075227 | NPHS1 | c.2769C>T (p.Thr923=) | dbSNP gnomAD v4 |
19 | g.35841761G>C | CA507075228 | NPHS1 | c.2769C>G (p.Thr923=) | |
19 | g.35841761G= | CA2333847199 | NPHS1 | c.2769C= (p.Thr923=) | |
19 | g.35841761G>T | CA507075229 | NPHS1 | c.2769C>A (p.Thr923=) | |
19 | g.35841762G>A | CA405389502 | NPHS1 | c.2768C>T (p.Thr923Ile) | |
19 | g.35841762G>C | CA405389507 | NPHS1 | c.2768C>G (p.Thr923Ser) | |
19 | g.35841762G>T | CA405389512 | NPHS1 | c.2768C>A (p.Thr923Asn) | |
19 | g.35841763T>A | CA405389521 | NPHS1 | c.2767A>T (p.Thr923Ser) | |
19 | g.35841763T>C | CA405389517 | NPHS1 | c.2767A>G (p.Thr923Ala) | |
19 | g.35841763T>G | CA405389519 | NPHS1 | c.2767A>C (p.Thr923Pro) | |
19 | g.35841764G>A | CA507075233 | NPHS1 | c.2766C>T (p.Ala922=) | ClinVar |
19 | g.35841764G>C | CA507075234 | NPHS1 | c.2766C>G (p.Ala922=) | |
19 | g.35841764G>T | CA507075235 | NPHS1 | c.2766C>A (p.Ala922=) | |
19 | g.35841765G>A | CA405389526 | NPHS1 | c.2765C>T (p.Ala922Val) | |
19 | g.35841765G>C | CA405389527 | NPHS1 | c.2765C>G (p.Ala922Gly) | |
19 | g.35841765G>T | CA405389528 | NPHS1 | c.2765C>A (p.Ala922Asp) | ClinVar dbSNP |
19 | g.35841766_35841774del | CA2584602118 | NPHS1 | c.2757_2765del (p.Cys920_Ala922del) | gnomAD v4 |
19 | g.35841766C>A | CA405389533 | NPHS1 | c.2764G>T (p.Ala922Ser) | |
19 | g.35841766C>G | CA405389541 | NPHS1 | c.2764G>C (p.Ala922Pro) | |
19 | g.35841766C>T | CA405389544 | NPHS1 | c.2764G>A (p.Ala922Thr) | |
19 | g.35841767T>A | CA507075236 | NPHS1 | c.2763A>T (p.Thr921=) | |
19 | g.35841767T>C | CA507075237 | NPHS1 | c.2763A>G (p.Thr921=) | ClinVar dbSNP gnomAD v4 |
19 | g.35841767T>G | CA507075238 | NPHS1 | c.2763A>C (p.Thr921=) | |
19 | g.35841768G>A | CA405389546 | NPHS1 | c.2762C>T (p.Thr921Ile) | |
19 | g.35841768G>C | CA9390032 | NPHS1 | c.2762C>G (p.Thr921Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.35841768G= | CA2333847200 | NPHS1 | c.2762C= (p.Thr921=) | |
19 | g.35841768G>T | CA405389548 | NPHS1 | c.2762C>A (p.Thr921Lys) | gnomAD v4 COSMIC |
19 | g.35841769T>A | CA405389551 | NPHS1 | c.2761A>T (p.Thr921Ser) | |
19 | g.35841769T>C | CA9390033 | NPHS1 | c.2761A>G (p.Thr921Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |