Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35849002T>A | CA405406668 | NPHS1 | c.986A>T (p.Glu329Val) | |
19 | g.35849002T>C | CA405406670 | NPHS1 | c.986A>G (p.Glu329Gly) | gnomAD v4 |
19 | g.35849002T>G | CA405406671 | NPHS1 | c.986A>C (p.Glu329Ala) | |
19 | g.35849003C>A | CA405406674 | NPHS1 | c.985G>T (p.Glu329Ter) | |
19 | g.35849003C>G | CA405406673 | NPHS1 | c.985G>C (p.Glu329Gln) | |
19 | g.35849003C>T | CA405406672 | NPHS1 | c.985G>A (p.Glu329Lys) | COSMIC |
19 | g.35849004C>A | CA405406675 | NPHS1 | c.984G>T (p.Gln328His) | |
19 | g.35849004C>G | CA405406676 | NPHS1 | c.984G>C (p.Gln328His) | |
19 | g.35849004C>T | CA507085322 | NPHS1 | c.984G>A (p.Gln328=) | ClinVar dbSNP |
19 | g.35849005T>A | CA405406677 | NPHS1 | c.983A>T (p.Gln328Leu) | dbSNP |
19 | g.35849005T>C | CA405406678 | NPHS1 | c.983A>G (p.Gln328Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849005T>G | CA405406679 | NPHS1 | c.983A>C (p.Gln328Pro) | |
19 | g.35849005T= | CA2333850687 | NPHS1 | c.983A= (p.Gln328=) | |
19 | g.35849006G>A | CA405406680 | NPHS1 | c.982C>T (p.Gln328Ter) | gnomAD v4 |
19 | g.35849006G>C | CA405406681 | NPHS1 | c.982C>G (p.Gln328Glu) | |
19 | g.35849006G>T | CA405406682 | NPHS1 | c.982C>A (p.Gln328Lys) | gnomAD v4 |
19 | g.35849007G>A | CA507085323 | NPHS1 | c.981C>T (p.Thr327=) | gnomAD v4 |
19 | g.35849007G>C | CA507085324 | NPHS1 | c.981C>G (p.Thr327=) | dbSNP |
19 | g.35849007G= | CA2333850688 | NPHS1 | c.981C= (p.Thr327=) | |
19 | g.35849007G>T | CA507085325 | NPHS1 | c.981C>A (p.Thr327=) | |
19 | g.35849008G>A | CA405406683 | NPHS1 | c.980C>T (p.Thr327Ile) | |
19 | g.35849008G>C | CA405406684 | NPHS1 | c.980C>G (p.Thr327Ser) | |
19 | g.35849008G>T | CA405406685 | NPHS1 | c.980C>A (p.Thr327Asn) | gnomAD v4 |
19 | g.35849009T>A | CA405406688 | NPHS1 | c.979A>T (p.Thr327Ser) | |
19 | g.35849009T>C | CA405406687 | NPHS1 | c.979A>G (p.Thr327Ala) | |
19 | g.35849009T>G | CA405406686 | NPHS1 | c.979A>C (p.Thr327Pro) | |
19 | g.35849010C>A | CA507314374 | NPHS1 | c.978G>T (p.Gly326=) | |
19 | g.35849010C= | CA2333850689 | NPHS1 | c.978G= (p.Gly326=) | |
19 | g.35849010C>G | CA507314375 | NPHS1 | c.978G>C (p.Gly326=) | |
19 | g.35849010C>T | CA307787637 | NPHS1 | c.978G>A (p.Gly326=) | dbSNP COSMIC |
19 | g.35849011_35849012del | CA2695228642 | NPHS1 | c.977_978del (p.Gly326AspfsTer15) | |
19 | g.35849011C>A | CA405406689 | NPHS1 | c.977G>T (p.Gly326Val) | |
19 | g.35849011C>G | CA405406690 | NPHS1 | c.977G>C (p.Gly326Ala) | |
19 | g.35849011C>T | CA405406691 | NPHS1 | c.977G>A (p.Gly326Glu) | gnomAD v4 |
19 | g.35849012C>A | CA405406692 | NPHS1 | c.976G>T (p.Gly326Trp) | |
19 | g.35849012C>G | CA405406693 | NPHS1 | c.976G>C (p.Gly326Arg) | |
19 | g.35849012C>T | CA405406694 | NPHS1 | c.976G>A (p.Gly326Arg) | |
19 | g.35849013T>A | CA507314376 | NPHS1 | c.975A>T (p.Ala325=) | |
19 | g.35849013T>C | CA507314377 | NPHS1 | c.975A>G (p.Ala325=) | |
19 | g.35849013T>G | CA507314378 | NPHS1 | c.975A>C (p.Ala325=) | gnomAD v4 |
19 | g.35849014G>A | CA9390589 | NPHS1 | c.974C>T (p.Ala325Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849014G>C | CA405406695 | NPHS1 | c.974C>G (p.Ala325Gly) | |
19 | g.35849014G= | CA2333850690 | NPHS1 | c.974C= (p.Ala325=) | |
19 | g.35849014G>T | CA405406696 | NPHS1 | c.974C>A (p.Ala325Glu) | |
19 | g.35849015C>A | CA9390590 | NPHS1 | c.973G>T (p.Ala325Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849015C= | CA2333850691 | NPHS1 | c.973G= (p.Ala325=) | |
19 | g.35849015C>G | CA405406697 | NPHS1 | c.973G>C (p.Ala325Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849015C>T | CA405406698 | NPHS1 | c.973G>A (p.Ala325Thr) | gnomAD v4 |
19 | g.35849016A>C | CA507314379 | NPHS1 | c.972T>G (p.Ser324=) | |
19 | g.35849016A>G | CA507314380 | NPHS1 | c.972T>C (p.Ser324=) |