| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.52050244G>A | CA364443853 | PKHD1 | c.2192C>T (p.Ser731Leu) c.1481C>T (p.Ser494Leu) c.2117C>T (p.Ser706Leu) c.332C>T (p.Ser111Leu) n.2468C>T | |
| 6 | g.52050244G>C | CA364443854 | PKHD1 | c.2192C>G (p.Ser731Ter) c.1481C>G (p.Ser494Ter) c.2117C>G (p.Ser706Ter) c.332C>G (p.Ser111Ter) n.2468C>G | |
| 6 | g.52050244G= | CA1628638907 | PKHD1 | c.2192C= (p.Ser731=) c.1481C= (p.Ser494=) c.2117C= (p.Ser706=) c.332C= (p.Ser111=) n.2468C= | |
| 6 | g.52050244G>T | CA16041068 | PKHD1 | c.2192C>A (p.Ser731Ter) c.1481C>A (p.Ser494Ter) c.2117C>A (p.Ser706Ter) c.332C>A (p.Ser111Ter) n.2468C>A | ClinVar dbSNP |
| 6 | g.52050245A= | CA1628638911 | PKHD1 | c.2191T= (p.Ser731=) c.1480T= (p.Ser494=) c.2116T= (p.Ser706=) c.331T= (p.Ser111=) n.2467T= | |
| 6 | g.52050245A>C | CA364443855 | PKHD1 | c.2191T>G (p.Ser731Ala) c.1480T>G (p.Ser494Ala) c.2116T>G (p.Ser706Ala) c.331T>G (p.Ser111Ala) n.2467T>G | |
| 6 | g.52050245A>G | CA364443856 | PKHD1 | c.2191T>C (p.Ser731Pro) c.1480T>C (p.Ser494Pro) c.2116T>C (p.Ser706Pro) c.331T>C (p.Ser111Pro) n.2467T>C | |
| 6 | g.52050245A>T | CA364443857 | PKHD1 | c.2191T>A (p.Ser731Thr) c.1480T>A (p.Ser494Thr) c.2116T>A (p.Ser706Thr) c.331T>A (p.Ser111Thr) n.2467T>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52050246T>A | CA364443858 | PKHD1 | c.2190A>T (p.Glu730Asp) c.1479A>T (p.Glu493Asp) c.2115A>T (p.Glu705Asp) c.330A>T (p.Glu110Asp) n.2466A>T | |
| 6 | g.52050246T>C | CA450421248 | PKHD1 | c.2190A>G (p.Glu730=) c.1479A>G (p.Glu493=) c.2115A>G (p.Glu705=) c.330A>G (p.Glu110=) n.2466A>G | |
| 6 | g.52050246T>G | CA364443859 | PKHD1 | c.2190A>C (p.Glu730Asp) c.1479A>C (p.Glu493Asp) c.2115A>C (p.Glu705Asp) c.330A>C (p.Glu110Asp) n.2466A>C | |
| 6 | g.52050247dup | CA2679084012 | PKHD1 | c.2190dup (p.Ser731IlefsTer?) c.1479dup (p.Ser494IlefsTer?) c.2115dup (p.Ser706IlefsTer?) c.330dup (p.Ser111IlefsTer?) n.2466dup | gnomAD v4 |
| 6 | g.52050247T>A | CA364443861 | PKHD1 | c.2189A>T (p.Glu730Val) c.1478A>T (p.Glu493Val) c.2114A>T (p.Glu705Val) c.329A>T (p.Glu110Val) n.2465A>T | |
| 6 | g.52050247T>C | CA364443862 | PKHD1 | c.2189A>G (p.Glu730Gly) c.1478A>G (p.Glu493Gly) c.2114A>G (p.Glu705Gly) c.329A>G (p.Glu110Gly) n.2465A>G | gnomAD v4 |
| 6 | g.52050247T>G | CA364443860 | PKHD1 | c.2189A>C (p.Glu730Ala) c.1478A>C (p.Glu493Ala) c.2114A>C (p.Glu705Ala) c.329A>C (p.Glu110Ala) n.2465A>C | |
| 6 | g.52050248C>A | CA364443864 | PKHD1 | c.2188G>T (p.Glu730Ter) c.1477G>T (p.Glu493Ter) c.2113G>T (p.Glu705Ter) c.328G>T (p.Glu110Ter) n.2464G>T | gnomAD v4 |
| 6 | g.52050248C= | CA1628638913 | PKHD1 | c.2188G= (p.Glu730=) c.1477G= (p.Glu493=) c.2113G= (p.Glu705=) c.328G= (p.Glu110=) n.2464G= | |
| 6 | g.52050248C>G | CA364443863 | PKHD1 | c.2188G>C (p.Glu730Gln) c.1477G>C (p.Glu493Gln) c.2113G>C (p.Glu705Gln) c.328G>C (p.Glu110Gln) n.2464G>C | |
| 6 | g.52050248C>T | CA3853308 | PKHD1 | c.2188G>A (p.Glu730Lys) c.1477G>A (p.Glu493Lys) c.2113G>A (p.Glu705Lys) c.328G>A (p.Glu110Lys) n.2464G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52050248delinsTA | CA2573052715 | PKHD1 | c.2188delinsTA (p.Glu730Ter) c.1477delinsTA (p.Glu493Ter) c.2113delinsTA (p.Glu705Ter) c.328delinsTA (p.Glu110Ter) n.2464delinsTA | ClinVar dbSNP |
| 6 | g.52050249C>A | CA450421250 | PKHD1 | c.2187G>T (p.Val729=) c.1476G>T (p.Val492=) c.2112G>T (p.Val704=) c.327G>T (p.Val109=) n.2463G>T | |
| 6 | g.52050249C>G | CA450421251 | PKHD1 | c.2187G>C (p.Val729=) c.1476G>C (p.Val492=) c.2112G>C (p.Val704=) c.327G>C (p.Val109=) n.2463G>C | |
| 6 | g.52050249C>T | CA450421252 | PKHD1 | c.2187G>A (p.Val729=) c.1476G>A (p.Val492=) c.2112G>A (p.Val704=) c.327G>A (p.Val109=) n.2463G>A | |
| 6 | g.52050250A>C | CA364443865 | PKHD1 | c.2186T>G (p.Val729Gly) c.1475T>G (p.Val492Gly) c.2111T>G (p.Val704Gly) c.326T>G (p.Val109Gly) n.2462T>G | |
| 6 | g.52050250A>G | CA364443866 | PKHD1 | c.2186T>C (p.Val729Ala) c.1475T>C (p.Val492Ala) c.2111T>C (p.Val704Ala) c.326T>C (p.Val109Ala) n.2462T>C | |
| 6 | g.52050250A>T | CA364443867 | PKHD1 | c.2186T>A (p.Val729Glu) c.1475T>A (p.Val492Glu) c.2111T>A (p.Val704Glu) c.326T>A (p.Val109Glu) n.2462T>A | |
| 6 | g.52050251C>A | CA364443868 | PKHD1 | c.2185G>T (p.Val729Leu) c.1474G>T (p.Val492Leu) c.2110G>T (p.Val704Leu) c.325G>T (p.Val109Leu) n.2461G>T | |
| 6 | g.52050251C= | CA1628638915 | PKHD1 | c.2185G= (p.Val729=) c.1474G= (p.Val492=) c.2110G= (p.Val704=) c.325G= (p.Val109=) n.2461G= | |
| 6 | g.52050251C>G | CA364443869 | PKHD1 | c.2185G>C (p.Val729Leu) c.1474G>C (p.Val492Leu) c.2110G>C (p.Val704Leu) c.325G>C (p.Val109Leu) n.2461G>C | dbSNP |
| 6 | g.52050251C>T | CA3853309 | PKHD1 | c.2185G>A (p.Val729Met) c.1474G>A (p.Val492Met) c.2110G>A (p.Val704Met) c.325G>A (p.Val109Met) n.2461G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.52050252C>A | CA450421253 | PKHD1 | c.2184G>T (p.Leu728=) c.1473G>T (p.Leu491=) c.2109G>T (p.Leu703=) c.324G>T (p.Leu108=) n.2460G>T | |
| 6 | g.52050252C= | CA1628638919 | PKHD1 | c.2184G= (p.Leu728=) c.1473G= (p.Leu491=) c.2109G= (p.Leu703=) c.324G= (p.Leu108=) n.2460G= | |
| 6 | g.52050252C>G | CA450421254 | PKHD1 | c.2184G>C (p.Leu728=) c.1473G>C (p.Leu491=) c.2109G>C (p.Leu703=) c.324G>C (p.Leu108=) n.2460G>C | |
| 6 | g.52050252C>T | CA138967842 | PKHD1 | c.2184G>A (p.Leu728=) c.1473G>A (p.Leu491=) c.2109G>A (p.Leu703=) c.324G>A (p.Leu108=) n.2460G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.52050253A>C | CA364443870 | PKHD1 | c.2183T>G (p.Leu728Arg) c.1472T>G (p.Leu491Arg) c.2108T>G (p.Leu703Arg) c.323T>G (p.Leu108Arg) n.2459T>G | |
| 6 | g.52050253A>G | CA364443872 | PKHD1 | c.2183T>C (p.Leu728Pro) c.1472T>C (p.Leu491Pro) c.2108T>C (p.Leu703Pro) c.323T>C (p.Leu108Pro) n.2459T>C | |
| 6 | g.52050253A>T | CA364443871 | PKHD1 | c.2183T>A (p.Leu728Gln) c.1472T>A (p.Leu491Gln) c.2108T>A (p.Leu703Gln) c.323T>A (p.Leu108Gln) n.2459T>A | |
| 6 | g.52050254G>A | CA450421255 | PKHD1 | c.2182C>T (p.Leu728=) c.1471C>T (p.Leu491=) c.2107C>T (p.Leu703=) c.322C>T (p.Leu108=) n.2458C>T | |
| 6 | g.52050254G>C | CA364443873 | PKHD1 | c.2182C>G (p.Leu728Val) c.1471C>G (p.Leu491Val) c.2107C>G (p.Leu703Val) c.322C>G (p.Leu108Val) n.2458C>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52050254G= | CA1628638922 | PKHD1 | c.2182C= (p.Leu728=) c.1471C= (p.Leu491=) c.2107C= (p.Leu703=) c.322C= (p.Leu108=) n.2458C= | |
| 6 | g.52050254G>T | CA364443874 | PKHD1 | c.2182C>A (p.Leu728Met) c.1471C>A (p.Leu491Met) c.2107C>A (p.Leu703Met) c.322C>A (p.Leu108Met) n.2458C>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.52050255A= | CA1628638925 | PKHD1 | c.2181T= (p.Asn727=) c.1470T= (p.Asn490=) c.2106T= (p.Asn702=) c.321T= (p.Asn107=) n.2457T= | |
| 6 | g.52050255A>C | CA364443875 | PKHD1 | c.2181T>G (p.Asn727Lys) c.1470T>G (p.Asn490Lys) c.2106T>G (p.Asn702Lys) c.321T>G (p.Asn107Lys) n.2457T>G | |
| 6 | g.52050255A>G | CA450421256 | PKHD1 | c.2181T>C (p.Asn727=) c.1470T>C (p.Asn490=) c.2106T>C (p.Asn702=) c.321T>C (p.Asn107=) n.2457T>C | |
| 6 | g.52050255A>T | CA364443876 | PKHD1 | c.2181T>A (p.Asn727Lys) c.1470T>A (p.Asn490Lys) c.2106T>A (p.Asn702Lys) c.321T>A (p.Asn107Lys) n.2457T>A | dbSNP |
| 6 | g.52050256T>A | CA364443878 | PKHD1 | c.2180A>T (p.Asn727Ile) c.1469A>T (p.Asn490Ile) c.2105A>T (p.Asn702Ile) c.320A>T (p.Asn107Ile) n.2456A>T | |
| 6 | g.52050256T>C | CA234578 | PKHD1 | c.2180A>G (p.Asn727Ser) c.1469A>G (p.Asn490Ser) c.2105A>G (p.Asn702Ser) c.320A>G (p.Asn107Ser) n.2456A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.52050256T>G | CA364443877 | PKHD1 | c.2180A>C (p.Asn727Thr) c.1469A>C (p.Asn490Thr) c.2105A>C (p.Asn702Thr) c.320A>C (p.Asn107Thr) n.2456A>C | |
| 6 | g.52050256T= | CA1628638934 | PKHD1 | c.2180A= (p.Asn727=) c.1469A= (p.Asn490=) c.2105A= (p.Asn702=) c.320A= (p.Asn107=) n.2456A= | |
| 6 | g.52050257dup | CA658683446 | PKHD1 | c.2180dup (p.Asn727LysfsTer?) c.1469dup (p.Asn490LysfsTer?) c.2105dup (p.Asn702LysfsTer?) c.320dup (p.Asn107LysfsTer?) n.2456dup | ClinVar dbSNP gnomAD v4 |