Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35850957_35851031del | CA2584604388 | NPHS1 | c.456_526+4del | gnomAD v4 |
19 | g.35850969_35850972delinsATGG | CA2333851598 | NPHS1 | c.515_518delinsCCAT (p.Thr172=) | |
19 | g.35850972_35850974del | CA250247 | NPHS1 | c.515_517del (p.Thr172del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35850972del | CA250250 | NPHS1 | c.516del (p.Ile173PhefsTer3) | ClinVar dbSNP |
19 | g.35850972G>A | CA405409697 | NPHS1 | c.515C>T (p.Thr172Ile) | |
19 | g.35850972G>C | CA405409698 | NPHS1 | c.515C>G (p.Thr172Ser) | |
19 | g.35850972G= | CA2333851601 | NPHS1 | c.515C= (p.Thr172=) | |
19 | g.35850972G>T | CA9390790 | NPHS1 | c.515C>A (p.Thr172Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35850973del | CA2695228648 | NPHS1 | c.514del (p.Thr172ProfsTer4) | |
19 | g.35850973T>A | CA405409702 | NPHS1 | c.514A>T (p.Thr172Ser) | |
19 | g.35850973T>C | CA405409705 | NPHS1 | c.514A>G (p.Thr172Ala) | dbSNP gnomAD v2 |
19 | g.35850973T>G | CA405409708 | NPHS1 | c.514A>C (p.Thr172Pro) | |
19 | g.35850973T= | CA2333851602 | NPHS1 | c.514A= (p.Thr172=) | |
19 | g.35850974G>A | CA507085986 | NPHS1 | c.513C>T (p.Ile171=) | COSMIC |
19 | g.35850974G>C | CA405409711 | NPHS1 | c.513C>G (p.Ile171Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35850974G= | CA2333851603 | NPHS1 | c.513C= (p.Ile171=) | |
19 | g.35850974G>T | CA507085985 | NPHS1 | c.513C>A (p.Ile171=) | |
19 | g.35850975A= | CA2333851604 | NPHS1 | c.512T= (p.Ile171=) | |
19 | g.35850975A>C | CA405409713 | NPHS1 | c.512T>G (p.Ile171Ser) | |
19 | g.35850975A>G | CA405409716 | NPHS1 | c.512T>C (p.Ile171Thr) | gnomAD v4 |
19 | g.35850975A>T | CA250245 | NPHS1 | c.512T>A (p.Ile171Asn) | ClinVar dbSNP |
19 | g.35850976T>A | CA405409720 | NPHS1 | c.511A>T (p.Ile171Phe) | |
19 | g.35850976T>C | CA405409722 | NPHS1 | c.511A>G (p.Ile171Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35850976T>G | CA405409725 | NPHS1 | c.511A>C (p.Ile171Leu) | |
19 | g.35850976T= | CA2333851605 | NPHS1 | c.511A= (p.Ile171=) | |
19 | g.35850977G>A | CA507085987 | NPHS1 | c.510C>T (p.Asp170=) | gnomAD v4 |
19 | g.35850977G>C | CA405409727 | NPHS1 | c.510C>G (p.Asp170Glu) | |
19 | g.35850977G>T | CA405409729 | NPHS1 | c.510C>A (p.Asp170Glu) | |
19 | g.35850978T>A | CA405409733 | NPHS1 | c.509A>T (p.Asp170Val) | |
19 | g.35850978T>C | CA405409736 | NPHS1 | c.509A>G (p.Asp170Gly) | |
19 | g.35850978T>G | CA405409738 | NPHS1 | c.509A>C (p.Asp170Ala) | |
19 | g.35850979del | CA2580096895 | NPHS1 | c.508del (p.Asp170ThrfsTer6) | ClinVar |
19 | g.35850979C>A | CA405409742 | NPHS1 | c.508G>T (p.Asp170Tyr) | gnomAD v4 |
19 | g.35850979C= | CA2333851606 | NPHS1 | c.508G= (p.Asp170=) | |
19 | g.35850979C>G | CA405409744 | NPHS1 | c.508G>C (p.Asp170His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35850979C>T | CA405409746 | NPHS1 | c.508G>A (p.Asp170Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35850980A>C | CA507085988 | NPHS1 | c.507T>G (p.Pro169=) | |
19 | g.35850980A>G | CA507085989 | NPHS1 | c.507T>C (p.Pro169=) | ClinVar dbSNP |
19 | g.35850980A>T | CA507085990 | NPHS1 | c.507T>A (p.Pro169=) | gnomAD v4 |
19 | g.35850981G>A | CA405409753 | NPHS1 | c.506C>T (p.Pro169Leu) | |
19 | g.35850981G>C | CA405409756 | NPHS1 | c.506C>G (p.Pro169Arg) | |
19 | g.35850981G>T | CA405409751 | NPHS1 | c.506C>A (p.Pro169His) | |
19 | g.35850982G>A | CA405409759 | NPHS1 | c.505C>T (p.Pro169Ser) | dbSNP gnomAD v4 |
19 | g.35850982G>C | CA405409763 | NPHS1 | c.505C>G (p.Pro169Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35850982G= | CA2333851607 | NPHS1 | c.505C= (p.Pro169=) | |
19 | g.35850982G>T | CA10652380 | NPHS1 | c.505C>A (p.Pro169Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.35850983T>A | CA507085991 | NPHS1 | c.504A>T (p.Ala168=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35850983T>C | CA507085992 | NPHS1 | c.504A>G (p.Ala168=) | gnomAD v4 |
19 | g.35850983T>G | CA507085993 | NPHS1 | c.504A>C (p.Ala168=) | gnomAD v4 |
19 | g.35850983T= | CA2333851608 | NPHS1 | c.504A= (p.Ala168=) |