Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23538651G>A | CA252501 | NPC1 | c.2932C>T (p.Arg978Cys) c.2010C>T n.565C>T n.275C>T c.2983C>T (p.Arg995Cys) c.2518C>T (p.Arg840Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23538651G>C | CA401792307 | NPC1 | c.2932C>G (p.Arg978Gly) c.2010C>G n.565C>G n.275C>G c.2983C>G (p.Arg995Gly) c.2518C>G (p.Arg840Gly) | |
18 | g.23538651G= | CA2290165388 | NPC1 | c.2932C= (p.Arg978=) c.2010C= n.565C= n.275C= c.2983C= (p.Arg995=) c.2518C= (p.Arg840=) | |
18 | g.23538651G>T | CA401792308 | NPC1 | c.2932C>A (p.Arg978Ser) c.2010C>A n.565C>A n.275C>A c.2983C>A (p.Arg995Ser) c.2518C>A (p.Arg840Ser) | ClinVar dbSNP |
18 | g.23538652A>C | CA503322511 | NPC1 | c.2931T>G (p.Val977=) c.2009T>G n.564T>G n.274T>G c.2982T>G (p.Val994=) c.2517T>G (p.Val839=) | |
18 | g.23538652A>G | CA503322512 | NPC1 | c.2931T>C (p.Val977=) c.2009T>C n.564T>C n.274T>C c.2982T>C (p.Val994=) c.2517T>C (p.Val839=) | dbSNP |
18 | g.23538652A>T | CA503322513 | NPC1 | c.2931T>A (p.Val977=) c.2009T>A n.564T>A n.274T>A c.2982T>A (p.Val994=) c.2517T>A (p.Val839=) | |
18 | g.23538653A>C | CA401792309 | NPC1 | c.2930T>G (p.Val977Gly) c.2008T>G n.563T>G n.273T>G c.2981T>G (p.Val994Gly) c.2516T>G (p.Val839Gly) | |
18 | g.23538653A>G | CA401792310 | NPC1 | c.2930T>C (p.Val977Ala) c.2008T>C n.563T>C n.273T>C c.2981T>C (p.Val994Ala) c.2516T>C (p.Val839Ala) | |
18 | g.23538653A>T | CA401792311 | NPC1 | c.2930T>A (p.Val977Asp) c.2008T>A n.563T>A n.273T>A c.2981T>A (p.Val994Asp) c.2516T>A (p.Val839Asp) | |
18 | g.23538654C>A | CA401792312 | NPC1 | c.2929G>T (p.Val977Phe) c.2007G>T n.562G>T n.272G>T c.2980G>T (p.Val994Phe) c.2515G>T (p.Val839Phe) | gnomAD v4 |
18 | g.23538654C= | CA2290165389 | NPC1 | c.2929G= (p.Val977=) c.2007G= n.562G= n.272G= c.2980G= (p.Val994=) c.2515G= (p.Val839=) | |
18 | g.23538654C>G | CA401792313 | NPC1 | c.2929G>C (p.Val977Leu) c.2007G>C n.562G>C n.272G>C c.2980G>C (p.Val994Leu) c.2515G>C (p.Val839Leu) | |
18 | g.23538654C>T | CA8912908 | NPC1 | c.2929G>A (p.Val977Ile) c.2007G>A n.562G>A n.272G>A c.2980G>A (p.Val994Ile) c.2515G>A (p.Val839Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23538655G>A | CA8912909 | NPC1 | c.2928C>T (p.Cys976=) c.2006C>T n.561C>T n.271C>T c.2979C>T (p.Cys993=) c.2514C>T (p.Cys838=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23538655G>C | CA401792314 | NPC1 | c.2928C>G (p.Cys976Trp) c.2006C>G n.561C>G n.271C>G c.2979C>G (p.Cys993Trp) c.2514C>G (p.Cys838Trp) | dbSNP |
18 | g.23538655G= | CA2290165390 | NPC1 | c.2928C= (p.Cys976=) c.2006C= n.561C= n.271C= c.2979C= (p.Cys993=) c.2514C= (p.Cys838=) | |
18 | g.23538655G>T | CA401792315 | NPC1 | c.2928C>A (p.Cys976Ter) c.2006C>A n.561C>A n.271C>A c.2979C>A (p.Cys993Ter) c.2514C>A (p.Cys838Ter) | ClinVar dbSNP |
18 | g.23538660_23538663del | CA2695227436 | NPC1 | c.2925_2928del (p.Cys976PhefsTer6) c.2003_2006del n.558_561del n.268_271del c.2976_2979del (p.Cys993PhefsTer6) c.2511_2514del (p.Cys838PhefsTer6) | |
18 | g.23538656C>A | CA401792316 | NPC1 | c.2927G>T (p.Cys976Phe) c.2005G>T n.560G>T n.270G>T c.2978G>T (p.Cys993Phe) c.2513G>T (p.Cys838Phe) | |
18 | g.23538656C>G | CA401792317 | NPC1 | c.2927G>C (p.Cys976Ser) c.2005G>C n.560G>C n.270G>C c.2978G>C (p.Cys993Ser) c.2513G>C (p.Cys838Ser) | |
18 | g.23538656C>T | CA401792318 | NPC1 | c.2927G>A (p.Cys976Tyr) c.2005G>A n.560G>A n.270G>A c.2978G>A (p.Cys993Tyr) c.2513G>A (p.Cys838Tyr) | |
18 | g.23538657A= | CA2290165391 | NPC1 | c.2926T= (p.Cys976=) c.2004T= n.559T= n.269T= c.2977T= (p.Cys993=) c.2512T= (p.Cys838=) | |
18 | g.23538657A>C | CA8912910 | NPC1 | c.2926T>G (p.Cys976Gly) c.2004T>G n.559T>G n.269T>G c.2977T>G (p.Cys993Gly) c.2512T>G (p.Cys838Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23538657A>G | CA401792319 | NPC1 | c.2926T>C (p.Cys976Arg) c.2004T>C n.559T>C n.269T>C c.2977T>C (p.Cys993Arg) c.2512T>C (p.Cys838Arg) | ClinVar gnomAD v4 |
18 | g.23538657A>T | CA401792320 | NPC1 | c.2926T>A (p.Cys976Ser) c.2004T>A n.559T>A n.269T>A c.2977T>A (p.Cys993Ser) c.2512T>A (p.Cys838Ser) | |
18 | g.23538658G>A | CA503322514 | NPC1 | c.2925C>T (p.Ala975=) c.2003C>T n.558C>T n.268C>T c.2976C>T (p.Ala992=) c.2511C>T (p.Ala837=) | |
18 | g.23538658G>C | CA503322515 | NPC1 | c.2925C>G (p.Ala975=) c.2003C>G n.558C>G n.268C>G c.2976C>G (p.Ala992=) c.2511C>G (p.Ala837=) | |
18 | g.23538658G>T | CA503322516 | NPC1 | c.2925C>A (p.Ala975=) c.2003C>A n.558C>A n.268C>A c.2976C>A (p.Ala992=) c.2511C>A (p.Ala837=) | |
18 | g.23538659G>A | CA401792323 | NPC1 | c.2924C>T (p.Ala975Val) c.2002C>T n.557C>T n.267C>T c.2975C>T (p.Ala992Val) c.2510C>T (p.Ala837Val) | |
18 | g.23538659G>C | CA401792322 | NPC1 | c.2924C>G (p.Ala975Gly) c.2002C>G n.557C>G n.267C>G c.2975C>G (p.Ala992Gly) c.2510C>G (p.Ala837Gly) | |
18 | g.23538659G>T | CA401792321 | NPC1 | c.2924C>A (p.Ala975Asp) c.2002C>A n.557C>A n.267C>A c.2975C>A (p.Ala992Asp) c.2510C>A (p.Ala837Asp) | |
18 | g.23538660C>A | CA401792324 | NPC1 | c.2923G>T (p.Ala975Ser) c.2001G>T n.556G>T n.266G>T c.2974G>T (p.Ala992Ser) c.2509G>T (p.Ala837Ser) | gnomAD v4 |
18 | g.23538660C>G | CA401792325 | NPC1 | c.2923G>C (p.Ala975Pro) c.2001G>C n.556G>C n.266G>C c.2974G>C (p.Ala992Pro) c.2509G>C (p.Ala837Pro) | |
18 | g.23538660C>T | CA401792326 | NPC1 | c.2923G>A (p.Ala975Thr) c.2001G>A n.556G>A n.266G>A c.2974G>A (p.Ala992Thr) c.2509G>A (p.Ala837Thr) | |
18 | g.23538661A= | CA2290165392 | NPC1 | c.2922T= (p.Pro974=) c.2000T= n.555T= n.265T= c.2973T= (p.Pro991=) c.2508T= (p.Pro836=) | |
18 | g.23538661A>C | CA503322517 | NPC1 | c.2922T>G (p.Pro974=) c.2000T>G n.555T>G n.265T>G c.2973T>G (p.Pro991=) c.2508T>G (p.Pro836=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23538661A>G | CA503322519 | NPC1 | c.2922T>C (p.Pro974=) c.2000T>C n.555T>C n.265T>C c.2973T>C (p.Pro991=) c.2508T>C (p.Pro836=) | |
18 | g.23538661A>T | CA503322518 | NPC1 | c.2922T>A (p.Pro974=) c.2000T>A n.555T>A n.265T>A c.2973T>A (p.Pro991=) c.2508T>A (p.Pro836=) | |
18 | g.23538662G>A | CA401792327 | NPC1 | c.2921C>T (p.Pro974Leu) c.1999C>T n.554C>T n.264C>T c.2972C>T (p.Pro991Leu) c.2507C>T (p.Pro836Leu) | |
18 | g.23538662G>C | CA401792328 | NPC1 | c.2921C>G (p.Pro974Arg) c.1999C>G n.554C>G n.264C>G c.2972C>G (p.Pro991Arg) c.2507C>G (p.Pro836Arg) | |
18 | g.23538662G>T | CA401792329 | NPC1 | c.2921C>A (p.Pro974His) c.1999C>A n.554C>A n.264C>A c.2972C>A (p.Pro991His) c.2507C>A (p.Pro836His) | |
18 | g.23538663G>A | CA8912911 | NPC1 | c.2920C>T (p.Pro974Ser) c.1998C>T n.553C>T n.263C>T c.2971C>T (p.Pro991Ser) c.2506C>T (p.Pro836Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23538663G>C | CA401792330 | NPC1 | c.2920C>G (p.Pro974Ala) c.1998C>G n.553C>G n.263C>G c.2971C>G (p.Pro991Ala) c.2506C>G (p.Pro836Ala) | |
18 | g.23538663G= | CA2290165393 | NPC1 | c.2920C= (p.Pro974=) c.1998C= n.553C= n.263C= c.2971C= (p.Pro991=) c.2506C= (p.Pro836=) | |
18 | g.23538663G>T | CA401792331 | NPC1 | c.2920C>A (p.Pro974Thr) c.1998C>A n.553C>A n.263C>A c.2971C>A (p.Pro991Thr) c.2506C>A (p.Pro836Thr) | gnomAD v4 |
18 | g.23538664G>A | CA503322520 | NPC1 | c.2919C>T (p.Asp973=) c.1997C>T n.552C>T n.262C>T c.2970C>T (p.Asp990=) c.2505C>T (p.Asp835=) | |
18 | g.23538664G>C | CA401792332 | NPC1 | c.2919C>G (p.Asp973Glu) c.1997C>G n.552C>G n.262C>G c.2970C>G (p.Asp990Glu) c.2505C>G (p.Asp835Glu) | |
18 | g.23538664G>T | CA401792333 | NPC1 | c.2919C>A (p.Asp973Glu) c.1997C>A n.552C>A n.262C>A c.2970C>A (p.Asp990Glu) c.2505C>A (p.Asp835Glu) | |
18 | g.23538665T>A | CA401792336 | NPC1 | c.2918A>T (p.Asp973Val) c.1996A>T n.551A>T n.261A>T c.2969A>T (p.Asp990Val) c.2504A>T (p.Asp835Val) | COSMIC COSMIC |