Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.52050157C>A | CA364443690 | PKHD1 | c.2279G>T (p.Arg760Leu) c.1568G>T (p.Arg523Leu) c.2204G>T (p.Arg735Leu) c.419G>T (p.Arg140Leu) n.2555G>T | |
6 | g.52050157C= | CA1628638739 | PKHD1 | c.2279G= (p.Arg760=) c.1568G= (p.Arg523=) c.2204G= (p.Arg735=) c.419G= (p.Arg140=) n.2555G= | |
6 | g.52050157C>G | CA364443691 | PKHD1 | c.2279G>C (p.Arg760Pro) c.1568G>C (p.Arg523Pro) c.2204G>C (p.Arg735Pro) c.419G>C (p.Arg140Pro) n.2555G>C | |
6 | g.52050157C>T | CA274068 | PKHD1 | c.2279G>A (p.Arg760His) c.1568G>A (p.Arg523His) c.2204G>A (p.Arg735His) c.419G>A (p.Arg140His) n.2555G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.52050158G>A | CA149502 | PKHD1 | c.2278C>T (p.Arg760Cys) c.1567C>T (p.Arg523Cys) c.2203C>T (p.Arg735Cys) c.418C>T (p.Arg140Cys) n.2554C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52050158G>C | CA364443692 | PKHD1 | c.2278C>G (p.Arg760Gly) c.1567C>G (p.Arg523Gly) c.2203C>G (p.Arg735Gly) c.418C>G (p.Arg140Gly) n.2554C>G | gnomAD v4 |
6 | g.52050158G= | CA1628638743 | PKHD1 | c.2278C= (p.Arg760=) c.1567C= (p.Arg523=) c.2203C= (p.Arg735=) c.418C= (p.Arg140=) n.2554C= | |
6 | g.52050158G>T | CA364443693 | PKHD1 | c.2278C>A (p.Arg760Ser) c.1567C>A (p.Arg523Ser) c.2203C>A (p.Arg735Ser) c.418C>A (p.Arg140Ser) n.2554C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.52050159T>A | CA450421184 | PKHD1 | c.2277A>T (p.Ala759=) c.1566A>T (p.Ala522=) c.2202A>T (p.Ala734=) c.417A>T (p.Ala139=) n.2553A>T | |
6 | g.52050159T>C | CA450421185 | PKHD1 | c.2277A>G (p.Ala759=) c.1566A>G (p.Ala522=) c.2202A>G (p.Ala734=) c.417A>G (p.Ala139=) n.2553A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.52050159T>G | CA450421186 | PKHD1 | c.2277A>C (p.Ala759=) c.1566A>C (p.Ala522=) c.2202A>C (p.Ala734=) c.417A>C (p.Ala139=) n.2553A>C | |
6 | g.52050159T= | CA1628638745 | PKHD1 | c.2277A= (p.Ala759=) c.1566A= (p.Ala522=) c.2202A= (p.Ala734=) c.417A= (p.Ala139=) n.2553A= | |
6 | g.52050160G>A | CA364443694 | PKHD1 | c.2276C>T (p.Ala759Val) c.1565C>T (p.Ala522Val) c.2201C>T (p.Ala734Val) c.416C>T (p.Ala139Val) n.2552C>T | COSMIC |
6 | g.52050160G>C | CA364443695 | PKHD1 | c.2276C>G (p.Ala759Gly) c.1565C>G (p.Ala522Gly) c.2201C>G (p.Ala734Gly) c.416C>G (p.Ala139Gly) n.2552C>G | |
6 | g.52050160G>T | CA364443696 | PKHD1 | c.2276C>A (p.Ala759Glu) c.1565C>A (p.Ala522Glu) c.2201C>A (p.Ala734Glu) c.416C>A (p.Ala139Glu) n.2552C>A | |
6 | g.52050161C>A | CA3853288 | PKHD1 | c.2275G>T (p.Ala759Ser) c.1564G>T (p.Ala522Ser) c.2200G>T (p.Ala734Ser) c.415G>T (p.Ala139Ser) n.2551G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52050161C= | CA1628638748 | PKHD1 | c.2275G= (p.Ala759=) c.1564G= (p.Ala522=) c.2200G= (p.Ala734=) c.415G= (p.Ala139=) n.2551G= | |
6 | g.52050161C>G | CA364443697 | PKHD1 | c.2275G>C (p.Ala759Pro) c.1564G>C (p.Ala522Pro) c.2200G>C (p.Ala734Pro) c.415G>C (p.Ala139Pro) n.2551G>C | |
6 | g.52050161C>T | CA3853287 | PKHD1 | c.2275G>A (p.Ala759Thr) c.1564G>A (p.Ala522Thr) c.2200G>A (p.Ala734Thr) c.415G>A (p.Ala139Thr) n.2551G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52050162A= | CA1628638751 | PKHD1 | c.2274T= (p.Thr758=) c.1563T= (p.Thr521=) c.2199T= (p.Thr733=) c.414T= (p.Thr138=) n.2550T= | |
6 | g.52050162A>C | CA450421187 | PKHD1 | c.2274T>G (p.Thr758=) c.1563T>G (p.Thr521=) c.2199T>G (p.Thr733=) c.414T>G (p.Thr138=) n.2550T>G | |
6 | g.52050162A>G | CA3853289 | PKHD1 | c.2274T>C (p.Thr758=) c.1563T>C (p.Thr521=) c.2199T>C (p.Thr733=) c.414T>C (p.Thr138=) n.2550T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.52050162A>T | CA450421188 | PKHD1 | c.2274T>A (p.Thr758=) c.1563T>A (p.Thr521=) c.2199T>A (p.Thr733=) c.414T>A (p.Thr138=) n.2550T>A | |
6 | g.52050163G>A | CA364443698 | PKHD1 | c.2273C>T (p.Thr758Ile) c.1562C>T (p.Thr521Ile) c.2198C>T (p.Thr733Ile) c.413C>T (p.Thr138Ile) n.2549C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.52050163G>C | CA364443699 | PKHD1 | c.2273C>G (p.Thr758Ser) c.1562C>G (p.Thr521Ser) c.2198C>G (p.Thr733Ser) c.413C>G (p.Thr138Ser) n.2549C>G | |
6 | g.52050163G= | CA1628638753 | PKHD1 | c.2273C= (p.Thr758=) c.1562C= (p.Thr521=) c.2198C= (p.Thr733=) c.413C= (p.Thr138=) n.2549C= | |
6 | g.52050163G>T | CA364443700 | PKHD1 | c.2273C>A (p.Thr758Asn) c.1562C>A (p.Thr521Asn) c.2198C>A (p.Thr733Asn) c.413C>A (p.Thr138Asn) n.2549C>A | |
6 | g.52050164T>A | CA364443701 | PKHD1 | c.2272A>T (p.Thr758Ser) c.1561A>T (p.Thr521Ser) c.2197A>T (p.Thr733Ser) c.412A>T (p.Thr138Ser) n.2548A>T | |
6 | g.52050164T>C | CA364443703 | PKHD1 | c.2272A>G (p.Thr758Ala) c.1561A>G (p.Thr521Ala) c.2197A>G (p.Thr733Ala) c.412A>G (p.Thr138Ala) n.2548A>G | |
6 | g.52050164T>G | CA364443702 | PKHD1 | c.2272A>C (p.Thr758Pro) c.1561A>C (p.Thr521Pro) c.2197A>C (p.Thr733Pro) c.412A>C (p.Thr138Pro) n.2548A>C | |
6 | g.52050165G>A | CA450421189 | PKHD1 | c.2271C>T (p.Ile757=) c.1560C>T (p.Ile520=) c.2196C>T (p.Ile732=) c.411C>T (p.Ile137=) n.2547C>T | |
6 | g.52050165G>C | CA364443704 | PKHD1 | c.2271C>G (p.Ile757Met) c.1560C>G (p.Ile520Met) c.2196C>G (p.Ile732Met) c.411C>G (p.Ile137Met) n.2547C>G | |
6 | g.52050165G>T | CA450421190 | PKHD1 | c.2271C>A (p.Ile757=) c.1560C>A (p.Ile520=) c.2196C>A (p.Ile732=) c.411C>A (p.Ile137=) n.2547C>A | |
6 | g.52050166A>C | CA364443707 | PKHD1 | c.2270T>G (p.Ile757Ser) c.1559T>G (p.Ile520Ser) c.2195T>G (p.Ile732Ser) c.410T>G (p.Ile137Ser) n.2546T>G | ClinVar dbSNP |
6 | g.52050166A>G | CA364443705 | PKHD1 | c.2270T>C (p.Ile757Thr) c.1559T>C (p.Ile520Thr) c.2195T>C (p.Ile732Thr) c.410T>C (p.Ile137Thr) n.2546T>C | |
6 | g.52050166A>T | CA364443706 | PKHD1 | c.2270T>A (p.Ile757Asn) c.1559T>A (p.Ile520Asn) c.2195T>A (p.Ile732Asn) c.410T>A (p.Ile137Asn) n.2546T>A | |
6 | g.52050167T>A | CA364443708 | PKHD1 | c.2269A>T (p.Ile757Phe) c.1558A>T (p.Ile520Phe) c.2194A>T (p.Ile732Phe) c.409A>T (p.Ile137Phe) n.2545A>T | |
6 | g.52050167T>C | CA3853290 | PKHD1 | c.2269A>G (p.Ile757Val) c.1558A>G (p.Ile520Val) c.2194A>G (p.Ile732Val) c.409A>G (p.Ile137Val) n.2545A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52050167T>G | CA3853291 | PKHD1 | c.2269A>C (p.Ile757Leu) c.1558A>C (p.Ile520Leu) c.2194A>C (p.Ile732Leu) c.409A>C (p.Ile137Leu) n.2545A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.52050167T= | CA1628638760 | PKHD1 | c.2269A= (p.Ile757=) c.1558A= (p.Ile520=) c.2194A= (p.Ile732=) c.409A= (p.Ile137=) n.2545A= | |
6 | g.52050168G>A | CA450421191 | PKHD1 | c.2268C>T (p.Leu756=) c.1557C>T (p.Leu519=) c.2193C>T (p.Leu731=) c.408C>T (p.Leu136=) n.2544C>T | ClinVar dbSNP gnomAD v4 |
6 | g.52050168G>C | CA450421192 | PKHD1 | c.2268C>G (p.Leu756=) c.1557C>G (p.Leu519=) c.2193C>G (p.Leu731=) c.408C>G (p.Leu136=) n.2544C>G | |
6 | g.52050168G= | CA1628638767 | PKHD1 | c.2268C= (p.Leu756=) c.1557C= (p.Leu519=) c.2193C= (p.Leu731=) c.408C= (p.Leu136=) n.2544C= | |
6 | g.52050168G>T | CA450421193 | PKHD1 | c.2268C>A (p.Leu756=) c.1557C>A (p.Leu519=) c.2193C>A (p.Leu731=) c.408C>A (p.Leu136=) n.2544C>A | |
6 | g.52050169A>C | CA364443709 | PKHD1 | c.2267T>G (p.Leu756Arg) c.1556T>G (p.Leu519Arg) c.2192T>G (p.Leu731Arg) c.407T>G (p.Leu136Arg) n.2543T>G | |
6 | g.52050169A>G | CA364443710 | PKHD1 | c.2267T>C (p.Leu756Pro) c.1556T>C (p.Leu519Pro) c.2192T>C (p.Leu731Pro) c.407T>C (p.Leu136Pro) n.2543T>C | |
6 | g.52050169A>T | CA364443711 | PKHD1 | c.2267T>A (p.Leu756His) c.1556T>A (p.Leu519His) c.2192T>A (p.Leu731His) c.407T>A (p.Leu136His) n.2543T>A | |
6 | g.52050170G>A | CA364443712 | PKHD1 | c.2266C>T (p.Leu756Phe) c.1555C>T (p.Leu519Phe) c.2191C>T (p.Leu731Phe) c.406C>T (p.Leu136Phe) n.2542C>T | dbSNP |
6 | g.52050170G>C | CA364443713 | PKHD1 | c.2266C>G (p.Leu756Val) c.1555C>G (p.Leu519Val) c.2191C>G (p.Leu731Val) c.406C>G (p.Leu136Val) n.2542C>G | |
6 | g.52050170G= | CA1628638770 | PKHD1 | c.2266C= (p.Leu756=) c.1555C= (p.Leu519=) c.2191C= (p.Leu731=) c.406C= (p.Leu136=) n.2542C= |