Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35845688A>C | CA405399656 | NPHS1 | c.1738T>G (p.Trp580Gly) | |
19 | g.35845688A>G | CA405399657 | NPHS1 | c.1738T>C (p.Trp580Arg) | |
19 | g.35845688A>T | CA405399658 | NPHS1 | c.1738T>A (p.Trp580Arg) | |
19 | g.35845689G>A | CA507314209 | NPHS1 | c.1737C>T (p.Ser579=) | ClinVar gnomAD v4 |
19 | g.35845689G>C | CA507314210 | NPHS1 | c.1737C>G (p.Ser579=) | |
19 | g.35845689G>T | CA507314211 | NPHS1 | c.1737C>A (p.Ser579=) | |
19 | g.35845690G>A | CA405399659 | NPHS1 | c.1736C>T (p.Ser579Phe) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845690G>C | CA405399660 | NPHS1 | c.1736C>G (p.Ser579Cys) | |
19 | g.35845690G= | CA2333849064 | NPHS1 | c.1736C= (p.Ser579=) | |
19 | g.35845690G>T | CA9390353 | NPHS1 | c.1736C>A (p.Ser579Tyr) | dbSNP ExAC gnomAD v2 |
19 | g.35845691A>C | CA405399661 | NPHS1 | c.1735T>G (p.Ser579Ala) | |
19 | g.35845691A>G | CA405399663 | NPHS1 | c.1735T>C (p.Ser579Pro) | |
19 | g.35845691A>T | CA405399662 | NPHS1 | c.1735T>A (p.Ser579Thr) | |
19 | g.35845692C>A | CA405399664 | NPHS1 | c.1734G>T (p.Leu578Phe) | dbSNP gnomAD v4 |
19 | g.35845692C= | CA2333849065 | NPHS1 | c.1734G= (p.Leu578=) | |
19 | g.35845692C>G | CA405399665 | NPHS1 | c.1734G>C (p.Leu578Phe) | |
19 | g.35845692C>T | CA507314213 | NPHS1 | c.1734G>A (p.Leu578=) | ClinVar dbSNP gnomAD v4 |
19 | g.35845693A>C | CA405399666 | NPHS1 | c.1733T>G (p.Leu578Trp) | |
19 | g.35845693A>G | CA405399667 | NPHS1 | c.1733T>C (p.Leu578Ser) | |
19 | g.35845693A>T | CA405399668 | NPHS1 | c.1733T>A (p.Leu578Ter) | |
19 | g.35845694A= | CA2333849066 | NPHS1 | c.1732T= (p.Leu578=) | |
19 | g.35845694A>C | CA405399669 | NPHS1 | c.1732T>G (p.Leu578Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845694A>G | CA507314214 | NPHS1 | c.1732T>C (p.Leu578=) | dbSNP |
19 | g.35845694A>T | CA405399670 | NPHS1 | c.1732T>A (p.Leu578Met) | gnomAD v4 |
19 | g.35845695G>A | CA507314215 | NPHS1 | c.1731C>T (p.Asn577=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845695G>C | CA405399671 | NPHS1 | c.1731C>G (p.Asn577Lys) | |
19 | g.35845695G= | CA2333849067 | NPHS1 | c.1731C= (p.Asn577=) | |
19 | g.35845695G>T | CA9390354 | NPHS1 | c.1731C>A (p.Asn577Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35845696T>A | CA405399672 | NPHS1 | c.1730A>T (p.Asn577Ile) | |
19 | g.35845696T>C | CA405399673 | NPHS1 | c.1730A>G (p.Asn577Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35845696T>G | CA405399674 | NPHS1 | c.1730A>C (p.Asn577Thr) | |
19 | g.35845696T= | CA2333849068 | NPHS1 | c.1730A= (p.Asn577=) | |
19 | g.35845697del | CA2695228618 | NPHS1 | c.1730del (p.Asn577ThrfsTer?) | |
19 | g.35845697T>A | CA405399675 | NPHS1 | c.1729A>T (p.Asn577Tyr) | |
19 | g.35845697T>C | CA405399677 | NPHS1 | c.1729A>G (p.Asn577Asp) | |
19 | g.35845697T>G | CA405399676 | NPHS1 | c.1729A>C (p.Asn577His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845697T= | CA2333849069 | NPHS1 | c.1729A= (p.Asn577=) | |
19 | g.35845698G>A | CA507314217 | NPHS1 | c.1728C>T (p.Val576=) | |
19 | g.35845698G>C | CA507314218 | NPHS1 | c.1728C>G (p.Val576=) | |
19 | g.35845698G>T | CA507314219 | NPHS1 | c.1728C>A (p.Val576=) | gnomAD v4 |
19 | g.35845699A= | CA2333849070 | NPHS1 | c.1727T= (p.Val576=) | |
19 | g.35845699A>C | CA405399678 | NPHS1 | c.1727T>G (p.Val576Gly) | |
19 | g.35845699A>G | CA9390355 | NPHS1 | c.1727T>C (p.Val576Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845699A>T | CA405399679 | NPHS1 | c.1727T>A (p.Val576Asp) | |
19 | g.35845700C>A | CA405399680 | NPHS1 | c.1726G>T (p.Val576Phe) | ClinVar dbSNP |
19 | g.35845700C= | CA2333849071 | NPHS1 | c.1726G= (p.Val576=) | |
19 | g.35845700C>G | CA405399681 | NPHS1 | c.1726G>C (p.Val576Leu) | gnomAD v4 |
19 | g.35845700C>T | CA405399682 | NPHS1 | c.1726G>A (p.Val576Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35845701C>A | CA9390356 | NPHS1 | c.1725G>T (p.Pro575=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35845701C= | CA2333849072 | NPHS1 | c.1725G= (p.Pro575=) |