Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23539941C>A | CA401792916 | NPC1 | c.2665G>T (p.Val889Leu) n.2579G>T n.456G>T c.1743G>T c.2716G>T (p.Val906Leu) c.2251G>T (p.Val751Leu) | |
18 | g.23539941C= | CA2290165959 | NPC1 | c.2665G= (p.Val889=) n.2579G= n.456G= c.1743G= c.2716G= (p.Val906=) c.2251G= (p.Val751=) | |
18 | g.23539941C>G | CA401792915 | NPC1 | c.2665G>C (p.Val889Leu) n.2579G>C n.456G>C c.1743G>C c.2716G>C (p.Val906Leu) c.2251G>C (p.Val751Leu) | |
18 | g.23539941C>T | CA115896 | NPC1 | c.2665G>A (p.Val889Met) n.2579G>A n.456G>A c.1743G>A c.2716G>A (p.Val906Met) c.2251G>A (p.Val751Met) | ClinVar dbSNP |
18 | g.23539942A= | CA2290165960 | NPC1 | c.2664T= (p.Pro888=) n.2578T= n.455T= c.1742T= c.2715T= (p.Pro905=) c.2250T= (p.Pro750=) | |
18 | g.23539942A>C | CA503322658 | NPC1 | c.2664T>G (p.Pro888=) n.2578T>G n.455T>G c.1742T>G c.2715T>G (p.Pro905=) c.2250T>G (p.Pro750=) | |
18 | g.23539942A>G | CA8913005 | NPC1 | c.2664T>C (p.Pro888=) n.2578T>C n.455T>C c.1742T>C c.2715T>C (p.Pro905=) c.2250T>C (p.Pro750=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539942A>T | CA503322659 | NPC1 | c.2664T>A (p.Pro888=) n.2578T>A n.455T>A c.1742T>A c.2715T>A (p.Pro905=) c.2250T>A (p.Pro750=) | |
18 | g.23539942dup | CA1139665982 | NPC1 | c.2664dup (p.Val889CysfsTer29) n.2578dup n.455dup c.1742dup c.2715dup (p.Val906CysfsTer29) c.2250dup (p.Val751CysfsTer29) | ClinVar dbSNP |
18 | g.23539943G>A | CA401792917 | NPC1 | c.2663C>T (p.Pro888Leu) n.2577C>T n.454C>T c.1741C>T c.2714C>T (p.Pro905Leu) c.2249C>T (p.Pro750Leu) | |
18 | g.23539943G>C | CA401792918 | NPC1 | c.2663C>G (p.Pro888Arg) n.2577C>G n.454C>G c.1741C>G c.2714C>G (p.Pro905Arg) c.2249C>G (p.Pro750Arg) | |
18 | g.23539943G>T | CA401792919 | NPC1 | c.2663C>A (p.Pro888His) n.2577C>A n.454C>A c.1741C>A c.2714C>A (p.Pro905His) c.2249C>A (p.Pro750His) | COSMIC |
18 | g.23539944G>A | CA401792920 | NPC1 | c.2662C>T (p.Pro888Ser) n.2576C>T n.453C>T c.1740C>T c.2713C>T (p.Pro905Ser) c.2248C>T (p.Pro750Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539944G>C | CA401792921 | NPC1 | c.2662C>G (p.Pro888Ala) n.2576C>G n.453C>G c.1740C>G c.2713C>G (p.Pro905Ala) c.2248C>G (p.Pro750Ala) | |
18 | g.23539944G= | CA2290165961 | NPC1 | c.2662C= (p.Pro888=) n.2576C= n.453C= c.1740C= c.2713C= (p.Pro905=) c.2248C= (p.Pro750=) | |
18 | g.23539944G>T | CA401792922 | NPC1 | c.2662C>A (p.Pro888Thr) n.2576C>A n.453C>A c.1740C>A c.2713C>A (p.Pro905Thr) c.2248C>A (p.Pro750Thr) | |
18 | g.23539945C>A | CA503322660 | NPC1 | c.2661G>T (p.Pro887=) n.2575G>T n.452G>T c.1739G>T c.2712G>T (p.Pro904=) c.2247G>T (p.Pro749=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539945C= | CA2290165962 | NPC1 | c.2661G= (p.Pro887=) n.2575G= n.452G= c.1739G= c.2712G= (p.Pro904=) c.2247G= (p.Pro749=) | |
18 | g.23539945C>G | CA503322661 | NPC1 | c.2661G>C (p.Pro887=) n.2575G>C n.452G>C c.1739G>C c.2712G>C (p.Pro904=) c.2247G>C (p.Pro749=) | |
18 | g.23539945C>T | CA8913006 | NPC1 | c.2661G>A (p.Pro887=) n.2575G>A n.452G>A c.1739G>A c.2712G>A (p.Pro904=) c.2247G>A (p.Pro749=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539946G>A | CA401792923 | NPC1 | c.2660C>T (p.Pro887Leu) n.2574C>T n.451C>T c.1738C>T c.2711C>T (p.Pro904Leu) c.2246C>T (p.Pro749Leu) | ClinVar dbSNP gnomAD v4 |
18 | g.23539946G>C | CA401792924 | NPC1 | c.2660C>G (p.Pro887Arg) n.2574C>G n.451C>G c.1738C>G c.2711C>G (p.Pro904Arg) c.2246C>G (p.Pro749Arg) | |
18 | g.23539946G= | CA2290165963 | NPC1 | c.2660C= (p.Pro887=) n.2574C= n.451C= c.1738C= c.2711C= (p.Pro904=) c.2246C= (p.Pro749=) | |
18 | g.23539946G>T | CA401792925 | NPC1 | c.2660C>A (p.Pro887Gln) n.2574C>A n.451C>A c.1738C>A c.2711C>A (p.Pro904Gln) c.2246C>A (p.Pro749Gln) | |
18 | g.23539947G>A | CA401792926 | NPC1 | c.2659C>T (p.Pro887Ser) n.2573C>T n.450C>T c.1737C>T c.2710C>T (p.Pro904Ser) c.2245C>T (p.Pro749Ser) | |
18 | g.23539947G>C | CA401792927 | NPC1 | c.2659C>G (p.Pro887Ala) n.2573C>G n.450C>G c.1737C>G c.2710C>G (p.Pro904Ala) c.2245C>G (p.Pro749Ala) | |
18 | g.23539947G>T | CA401792928 | NPC1 | c.2659C>A (p.Pro887Thr) n.2573C>A n.450C>A c.1737C>A c.2710C>A (p.Pro904Thr) c.2245C>A (p.Pro749Thr) | |
18 | g.23539948A>C | CA503322662 | NPC1 | c.2658T>G (p.Gly886=) n.2572T>G n.449T>G c.1736T>G c.2709T>G (p.Gly903=) c.2244T>G (p.Gly748=) | |
18 | g.23539948A>G | CA503322664 | NPC1 | c.2658T>C (p.Gly886=) n.2572T>C n.449T>C c.1736T>C c.2709T>C (p.Gly903=) c.2244T>C (p.Gly748=) | |
18 | g.23539948A>T | CA503322663 | NPC1 | c.2658T>A (p.Gly886=) n.2572T>A n.449T>A c.1736T>A c.2709T>A (p.Gly903=) c.2244T>A (p.Gly748=) | |
18 | g.23539949C>A | CA401792931 | NPC1 | c.2657G>T (p.Gly886Val) n.2571G>T n.448G>T c.1735G>T c.2708G>T (p.Gly903Val) c.2243G>T (p.Gly748Val) | |
18 | g.23539949C>G | CA401792930 | NPC1 | c.2657G>C (p.Gly886Ala) n.2571G>C n.448G>C c.1735G>C c.2708G>C (p.Gly903Ala) c.2243G>C (p.Gly748Ala) | |
18 | g.23539949C>T | CA401792929 | NPC1 | c.2657G>A (p.Gly886Asp) n.2571G>A n.448G>A c.1735G>A c.2708G>A (p.Gly903Asp) c.2243G>A (p.Gly748Asp) | |
18 | g.23539950C>A | CA401792932 | NPC1 | c.2656G>T (p.Gly886Cys) n.2570G>T n.447G>T c.1734G>T c.2707G>T (p.Gly903Cys) c.2242G>T (p.Gly748Cys) | gnomAD v4 |
18 | g.23539950C>G | CA401792933 | NPC1 | c.2656G>C (p.Gly886Arg) n.2570G>C n.447G>C c.1734G>C c.2707G>C (p.Gly903Arg) c.2242G>C (p.Gly748Arg) | gnomAD v4 |
18 | g.23539950C>T | CA401792934 | NPC1 | c.2656G>A (p.Gly886Ser) n.2570G>A n.447G>A c.1734G>A c.2707G>A (p.Gly903Ser) c.2242G>A (p.Gly748Ser) | |
18 | g.23539951C>A | CA503322665 | NPC1 | c.2655G>T (p.Ala885=) n.2569G>T n.446G>T c.1733G>T c.2706G>T (p.Ala902=) c.2241G>T (p.Ala747=) | |
18 | g.23539951C= | CA2290165964 | NPC1 | c.2655G= (p.Ala885=) n.2569G= n.446G= c.1733G= c.2706G= (p.Ala902=) c.2241G= (p.Ala747=) | |
18 | g.23539951C>G | CA503322666 | NPC1 | c.2655G>C (p.Ala885=) n.2569G>C n.446G>C c.1733G>C c.2706G>C (p.Ala902=) c.2241G>C (p.Ala747=) | gnomAD v4 |
18 | g.23539951C>T | CA297081478 | NPC1 | c.2655G>A (p.Ala885=) n.2569G>A n.446G>A c.1733G>A c.2706G>A (p.Ala902=) c.2241G>A (p.Ala747=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23539952G>A | CA8913007 | NPC1 | c.2654C>T (p.Ala885Val) n.2568C>T n.445C>T c.1732C>T c.2705C>T (p.Ala902Val) c.2240C>T (p.Ala747Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539952G>C | CA401792935 | NPC1 | c.2654C>G (p.Ala885Gly) n.2568C>G n.445C>G c.1732C>G c.2705C>G (p.Ala902Gly) c.2240C>G (p.Ala747Gly) | |
18 | g.23539952G= | CA2290165965 | NPC1 | c.2654C= (p.Ala885=) n.2568C= n.445C= c.1732C= c.2705C= (p.Ala902=) c.2240C= (p.Ala747=) | |
18 | g.23539952G>T | CA401792936 | NPC1 | c.2654C>A (p.Ala885Glu) n.2568C>A n.445C>A c.1732C>A c.2705C>A (p.Ala902Glu) c.2240C>A (p.Ala747Glu) | |
18 | g.23539953C>A | CA401792937 | NPC1 | c.2653G>T (p.Ala885Ser) n.2567G>T n.444G>T c.1731G>T c.2704G>T (p.Ala902Ser) c.2239G>T (p.Ala747Ser) | |
18 | g.23539953C>G | CA401792938 | NPC1 | c.2653G>C (p.Ala885Pro) n.2567G>C n.444G>C c.1731G>C c.2704G>C (p.Ala902Pro) c.2239G>C (p.Ala747Pro) | |
18 | g.23539953C>T | CA401792939 | NPC1 | c.2653G>A (p.Ala885Thr) n.2567G>A n.444G>A c.1731G>A c.2704G>A (p.Ala902Thr) c.2239G>A (p.Ala747Thr) | |
18 | g.23539954A= | CA2290165966 | NPC1 | c.2652T= (p.His884=) n.2566T= n.443T= c.1730T= c.2703T= (p.His901=) c.2238T= (p.His746=) | |
18 | g.23539954A>C | CA401792940 | NPC1 | c.2652T>G (p.His884Gln) n.2566T>G n.443T>G c.1730T>G c.2703T>G (p.His901Gln) c.2238T>G (p.His746Gln) | |
18 | g.23539954A>G | CA8913008 | NPC1 | c.2652T>C (p.His884=) n.2566T>C n.443T>C c.1730T>C c.2703T>C (p.His901=) c.2238T>C (p.His746=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |