UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 18 | g.23539954A>T | CA401792941 | NPC1 | c.2652T>A (p.His884Gln) n.2566T>A n.443T>A c.1730T>A c.2703T>A (p.His901Gln) c.2238T>A (p.His746Gln) | |
| 18 | g.23539955T>A | CA401792944 | NPC1 | c.2651A>T (p.His884Leu) n.2565A>T n.442A>T c.1729A>T c.2702A>T (p.His901Leu) c.2237A>T (p.His746Leu) | |
| 18 | g.23539955T>C | CA401792943 | NPC1 | c.2651A>G (p.His884Arg) n.2565A>G n.442A>G c.1729A>G c.2702A>G (p.His901Arg) c.2237A>G (p.His746Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23539955T>G | CA401792942 | NPC1 | c.2651A>C (p.His884Pro) n.2565A>C n.442A>C c.1729A>C c.2702A>C (p.His901Pro) c.2237A>C (p.His746Pro) | |
| 18 | g.23539955T= | CA2290165967 | NPC1 | c.2651A= (p.His884=) n.2565A= n.442A= c.1729A= c.2702A= (p.His901=) c.2237A= (p.His746=) | |
| 18 | g.23539956G>A | CA401792945 | NPC1 | c.2650C>T (p.His884Tyr) n.2564C>T n.441C>T c.1728C>T c.2701C>T (p.His901Tyr) c.2236C>T (p.His746Tyr) | |
| 18 | g.23539956G>C | CA401792946 | NPC1 | c.2650C>G (p.His884Asp) n.2564C>G n.441C>G c.1728C>G c.2701C>G (p.His901Asp) c.2236C>G (p.His746Asp) | |
| 18 | g.23539956G>T | CA401792947 | NPC1 | c.2650C>A (p.His884Asn) n.2564C>A n.441C>A c.1728C>A c.2701C>A (p.His901Asn) c.2236C>A (p.His746Asn) | |
| 18 | g.23539957C>A | CA503322667 | NPC1 | c.2649G>T (p.Leu883=) n.2563G>T n.440G>T c.1727G>T c.2700G>T (p.Leu900=) c.2235G>T (p.Leu745=) | |
| 18 | g.23539957C= | CA2290165968 | NPC1 | c.2649G= (p.Leu883=) n.2563G= n.440G= c.1727G= c.2700G= (p.Leu900=) c.2235G= (p.Leu745=) | |
| 18 | g.23539957C>G | CA503322668 | NPC1 | c.2649G>C (p.Leu883=) n.2563G>C n.440G>C c.1727G>C c.2700G>C (p.Leu900=) c.2235G>C (p.Leu745=) | |
| 18 | g.23539957C>T | CA503322669 | NPC1 | c.2649G>A (p.Leu883=) n.2563G>A n.440G>A c.1727G>A c.2700G>A (p.Leu900=) c.2235G>A (p.Leu745=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23539958A>C | CA401792948 | NPC1 | c.2648T>G (p.Leu883Arg) n.2562T>G n.439T>G c.1726T>G c.2699T>G (p.Leu900Arg) c.2234T>G (p.Leu745Arg) | |
| 18 | g.23539958A>G | CA401792949 | NPC1 | c.2648T>C (p.Leu883Pro) n.2562T>C n.439T>C c.1726T>C c.2699T>C (p.Leu900Pro) c.2234T>C (p.Leu745Pro) | gnomAD v4 |
| 18 | g.23539958A>T | CA401792950 | NPC1 | c.2648T>A (p.Leu883Gln) n.2562T>A n.439T>A c.1726T>A c.2699T>A (p.Leu900Gln) c.2234T>A (p.Leu745Gln) | |
| 18 | g.23539959G>A | CA503322670 | NPC1 | c.2647C>T (p.Leu883=) n.2561C>T n.438C>T c.1725C>T c.2698C>T (p.Leu900=) c.2233C>T (p.Leu745=) | gnomAD v4 COSMIC |
| 18 | g.23539959G>C | CA401792951 | NPC1 | c.2647C>G (p.Leu883Val) n.2561C>G n.438C>G c.1725C>G c.2698C>G (p.Leu900Val) c.2233C>G (p.Leu745Val) | |
| 18 | g.23539959G>T | CA401792952 | NPC1 | c.2647C>A (p.Leu883Met) n.2561C>A n.438C>A c.1725C>A c.2698C>A (p.Leu900Met) c.2233C>A (p.Leu745Met) | |
| 18 | g.23539960del | CA2580095530 | NPC1 | c.2647del (p.Leu883CysfsTer?) n.2561del n.438del c.1725del c.2698del (p.Leu900CysfsTer?) c.2233del (p.Leu745CysfsTer?) | ClinVar |
| 18 | g.23539960G>A | CA503322671 | NPC1 | c.2646C>T (p.Tyr882=) n.2560C>T n.437C>T c.1724C>T c.2697C>T (p.Tyr899=) c.2232C>T (p.Tyr744=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23539960G>C | CA401792953 | NPC1 | c.2646C>G (p.Tyr882Ter) n.2560C>G n.437C>G c.1724C>G c.2697C>G (p.Tyr899Ter) c.2232C>G (p.Tyr744Ter) | gnomAD v4 |
| 18 | g.23539960G>T | CA401792954 | NPC1 | c.2646C>A (p.Tyr882Ter) n.2560C>A n.437C>A c.1724C>A c.2697C>A (p.Tyr899Ter) c.2232C>A (p.Tyr744Ter) | |
| 18 | g.23539961T>A | CA401792955 | NPC1 | c.2645A>T (p.Tyr882Phe) n.2559A>T n.436A>T c.1723A>T c.2696A>T (p.Tyr899Phe) c.2231A>T (p.Tyr744Phe) | |
| 18 | g.23539961T>C | CA8913009 | NPC1 | c.2645A>G (p.Tyr882Cys) n.2559A>G n.436A>G c.1723A>G c.2696A>G (p.Tyr899Cys) c.2231A>G (p.Tyr744Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23539961T>G | CA401792956 | NPC1 | c.2645A>C (p.Tyr882Ser) n.2559A>C n.436A>C c.1723A>C c.2696A>C (p.Tyr899Ser) c.2231A>C (p.Tyr744Ser) | |
| 18 | g.23539961T= | CA2290165969 | NPC1 | c.2645A= (p.Tyr882=) n.2559A= n.436A= c.1723A= c.2696A= (p.Tyr899=) c.2231A= (p.Tyr744=) | |
| 18 | g.23539961_23539965delinsTACTG | CA2290165970 | NPC1 | c.2641_2645delinsCAGTA (p.Gln881=) n.2555_2559delinsCAGTA n.432_436delinsCAGTA c.1719_1723delinsCAGTA c.2692_2696delinsCAGTA (p.Gln898=) c.2227_2231delinsCAGTA (p.Gln743=) | |
| 18 | g.23539962A= | CA2290165972 | NPC1 | c.2644T= (p.Tyr882=) n.2558T= n.435T= c.1722T= c.2695T= (p.Tyr899=) c.2230T= (p.Tyr744=) | |
| 18 | g.23539962A>C | CA401792958 | NPC1 | c.2644T>G (p.Tyr882Asp) n.2558T>G n.435T>G c.1722T>G c.2695T>G (p.Tyr899Asp) c.2230T>G (p.Tyr744Asp) | |
| 18 | g.23539962A>G | CA8913010 | NPC1 | c.2644T>C (p.Tyr882His) n.2558T>C n.435T>C c.1722T>C c.2695T>C (p.Tyr899His) c.2230T>C (p.Tyr744His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23539962A>T | CA401792957 | NPC1 | c.2644T>A (p.Tyr882Asn) n.2558T>A n.435T>A c.1722T>A c.2695T>A (p.Tyr899Asn) c.2230T>A (p.Tyr744Asn) | gnomAD v4 |
| 18 | g.23539967_23539970del | CA2290165971 | NPC1 | c.2641_2644del (p.Gln881ThrfsTer?) n.2555_2558del n.432_435del c.1719_1722del c.2692_2695del (p.Gln898ThrfsTer?) c.2227_2230del (p.Gln743ThrfsTer?) | dbSNP gnomAD v4 |
| 18 | g.23539963C>A | CA401792959 | NPC1 | c.2643G>T (p.Gln881His) n.2557G>T n.434G>T c.1721G>T c.2694G>T (p.Gln898His) c.2229G>T (p.Gln743His) | |
| 18 | g.23539963C= | CA2290165973 | NPC1 | c.2643G= (p.Gln881=) n.2557G= n.434G= c.1721G= c.2694G= (p.Gln898=) c.2229G= (p.Gln743=) | |
| 18 | g.23539963C>G | CA401792960 | NPC1 | c.2643G>C (p.Gln881His) n.2557G>C n.434G>C c.1721G>C c.2694G>C (p.Gln898His) c.2229G>C (p.Gln743His) | |
| 18 | g.23539963C>T | CA503322672 | NPC1 | c.2643G>A (p.Gln881=) n.2557G>A n.434G>A c.1721G>A c.2694G>A (p.Gln898=) c.2229G>A (p.Gln743=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23539964T>A | CA401792961 | NPC1 | c.2642A>T (p.Gln881Leu) n.2556A>T n.433A>T c.1720A>T c.2693A>T (p.Gln898Leu) c.2228A>T (p.Gln743Leu) | |
| 18 | g.23539964T>C | CA401792962 | NPC1 | c.2642A>G (p.Gln881Arg) n.2556A>G n.433A>G c.1720A>G c.2693A>G (p.Gln898Arg) c.2228A>G (p.Gln743Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23539964T>G | CA401792963 | NPC1 | c.2642A>C (p.Gln881Pro) n.2556A>C n.433A>C c.1720A>C c.2693A>C (p.Gln898Pro) c.2228A>C (p.Gln743Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23539964T= | CA2290165974 | NPC1 | c.2642A= (p.Gln881=) n.2556A= n.433A= c.1720A= c.2693A= (p.Gln898=) c.2228A= (p.Gln743=) | |
| 18 | g.23539965G>A | CA401792964 | NPC1 | c.2641C>T (p.Gln881Ter) n.2555C>T n.432C>T c.1719C>T c.2692C>T (p.Gln898Ter) c.2227C>T (p.Gln743Ter) | ClinVar |
| 18 | g.23539965G>C | CA401792965 | NPC1 | c.2641C>G (p.Gln881Glu) n.2555C>G n.432C>G c.1719C>G c.2692C>G (p.Gln898Glu) c.2227C>G (p.Gln743Glu) | |
| 18 | g.23539965G>T | CA401792966 | NPC1 | c.2641C>A (p.Gln881Lys) n.2555C>A n.432C>A c.1719C>A c.2692C>A (p.Gln898Lys) c.2227C>A (p.Gln743Lys) | |
| 18 | g.23539966A>C | CA401792967 | NPC1 | c.2640T>G (p.Ser880Arg) n.2554T>G n.431T>G c.1718T>G c.2691T>G (p.Ser897Arg) c.2226T>G (p.Ser742Arg) | |
| 18 | g.23539966A>G | CA503322673 | NPC1 | c.2640T>C (p.Ser880=) n.2554T>C n.431T>C c.1718T>C c.2691T>C (p.Ser897=) c.2226T>C (p.Ser742=) | gnomAD v4 |
| 18 | g.23539966A>T | CA401792968 | NPC1 | c.2640T>A (p.Ser880Arg) n.2554T>A n.431T>A c.1718T>A c.2691T>A (p.Ser897Arg) c.2226T>A (p.Ser742Arg) | |
| 18 | g.23539967C>A | CA401792969 | NPC1 | c.2639G>T (p.Ser880Ile) n.2553G>T n.430G>T c.1717G>T c.2690G>T (p.Ser897Ile) c.2225G>T (p.Ser742Ile) | |
| 18 | g.23539967C>G | CA401792970 | NPC1 | c.2639G>C (p.Ser880Thr) n.2553G>C n.430G>C c.1717G>C c.2690G>C (p.Ser897Thr) c.2225G>C (p.Ser742Thr) | |
| 18 | g.23539967C>T | CA401792971 | NPC1 | c.2639G>A (p.Ser880Asn) n.2553G>A n.430G>A c.1717G>A c.2690G>A (p.Ser897Asn) c.2225G>A (p.Ser742Asn) | |
| 18 | g.23539968T>A | CA401792974 | NPC1 | c.2638A>T (p.Ser880Cys) n.2552A>T n.429A>T c.1716A>T c.2689A>T (p.Ser897Cys) c.2224A>T (p.Ser742Cys) | |
| 18 | g.23539968T>C | CA401792973 | NPC1 | c.2638A>G (p.Ser880Gly) n.2552A>G n.429A>G c.1716A>G c.2689A>G (p.Ser897Gly) c.2224A>G (p.Ser742Gly) | |
| 18 | g.23539968T>G | CA401792972 | NPC1 | c.2638A>C (p.Ser880Arg) n.2552A>C n.429A>C c.1716A>C c.2689A>C (p.Ser897Arg) c.2224A>C (p.Ser742Arg) | ClinVar dbSNP |
| 18 | g.23539969G>A | CA503322674 | NPC1 | c.2637C>T (p.Ile879=) n.2551C>T n.428C>T c.1715C>T c.2688C>T (p.Ile896=) c.2223C>T (p.Ile741=) | gnomAD v4 |
| 18 | g.23539969G>C | CA401792975 | NPC1 | c.2637C>G (p.Ile879Met) n.2551C>G n.428C>G c.1715C>G c.2688C>G (p.Ile896Met) c.2223C>G (p.Ile741Met) | |
| 18 | g.23539969G>T | CA503322675 | NPC1 | c.2637C>A (p.Ile879=) n.2551C>A n.428C>A c.1715C>A c.2688C>A (p.Ile896=) c.2223C>A (p.Ile741=) | |
| 18 | g.23539970A>C | CA401792976 | NPC1 | c.2636T>G (p.Ile879Ser) n.2550T>G n.427T>G c.1714T>G c.2687T>G (p.Ile896Ser) c.2222T>G (p.Ile741Ser) | |
| 18 | g.23539970A>G | CA401792977 | NPC1 | c.2636T>C (p.Ile879Thr) n.2550T>C n.427T>C c.1714T>C c.2687T>C (p.Ile896Thr) c.2222T>C (p.Ile741Thr) | |
| 18 | g.23539970A>T | CA401792978 | NPC1 | c.2636T>A (p.Ile879Asn) n.2550T>A n.427T>A c.1714T>A c.2687T>A (p.Ile896Asn) c.2222T>A (p.Ile741Asn) | |
| 18 | g.23539970_23539971dup | CA2695227444 | NPC1 | c.2635_2636dup (p.Gln881ValfsTer?) n.2549_2550dup n.426_427dup c.1713_1714dup c.2686_2687dup (p.Gln898ValfsTer?) c.2221_2222dup (p.Gln743ValfsTer?) | |
| 18 | g.23539971T>A | CA401792979 | NPC1 | c.2635A>T (p.Ile879Phe) n.2549A>T n.426A>T c.1713A>T c.2686A>T (p.Ile896Phe) c.2221A>T (p.Ile741Phe) | |
| 18 | g.23539971T>C | CA297081493 | NPC1 | c.2635A>G (p.Ile879Val) n.2549A>G n.426A>G c.1713A>G c.2686A>G (p.Ile896Val) c.2221A>G (p.Ile741Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23539971T>G | CA401792980 | NPC1 | c.2635A>C (p.Ile879Leu) n.2549A>C n.426A>C c.1713A>C c.2686A>C (p.Ile896Leu) c.2221A>C (p.Ile741Leu) | gnomAD v4 |
| 18 | g.23539971T= | CA2290165975 | NPC1 | c.2635A= (p.Ile879=) n.2549A= n.426A= c.1713A= c.2686A= (p.Ile896=) c.2221A= (p.Ile741=) | |
| 18 | g.23539972G>A | CA503322676 | NPC1 | c.2634C>T (p.Ser878=) n.2548C>T n.425C>T c.1712C>T c.2685C>T (p.Ser895=) c.2220C>T (p.Ser740=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23539972G>C | CA503322677 | NPC1 | c.2634C>G (p.Ser878=) n.2548C>G n.425C>G c.1712C>G c.2685C>G (p.Ser895=) c.2220C>G (p.Ser740=) | |
| 18 | g.23539972G= | CA2290165976 | NPC1 | c.2634C= (p.Ser878=) n.2548C= n.425C= c.1712C= c.2685C= (p.Ser895=) c.2220C= (p.Ser740=) | |
| 18 | g.23539972G>T | CA503322678 | NPC1 | c.2634C>A (p.Ser878=) n.2548C>A n.425C>A c.1712C>A c.2685C>A (p.Ser895=) c.2220C>A (p.Ser740=) | |
| 18 | g.23539973G>A | CA401792981 | NPC1 | c.2633C>T (p.Ser878Phe) n.2547C>T n.424C>T c.1711C>T c.2684C>T (p.Ser895Phe) c.2219C>T (p.Ser740Phe) | gnomAD v4 |
| 18 | g.23539973G>C | CA401792982 | NPC1 | c.2633C>G (p.Ser878Cys) n.2547C>G n.424C>G c.1711C>G c.2684C>G (p.Ser895Cys) c.2219C>G (p.Ser740Cys) | gnomAD v4 |
| 18 | g.23539973G>T | CA401792983 | NPC1 | c.2633C>A (p.Ser878Tyr) n.2547C>A n.424C>A c.1711C>A c.2684C>A (p.Ser895Tyr) c.2219C>A (p.Ser740Tyr) | |
| 18 | g.23539974A>C | CA401792984 | NPC1 | c.2632T>G (p.Ser878Ala) n.2546T>G n.423T>G c.1710T>G c.2683T>G (p.Ser895Ala) c.2218T>G (p.Ser740Ala) | |
| 18 | g.23539974A>G | CA401792985 | NPC1 | c.2632T>C (p.Ser878Pro) n.2546T>C n.423T>C c.1710T>C c.2683T>C (p.Ser895Pro) c.2218T>C (p.Ser740Pro) | |
| 18 | g.23539974A>T | CA401792986 | NPC1 | c.2632T>A (p.Ser878Thr) n.2546T>A n.423T>A c.1710T>A c.2683T>A (p.Ser895Thr) c.2218T>A (p.Ser740Thr) | |
| 18 | g.23539975T>A | CA401792987 | NPC1 | c.2631A>T (p.Lys877Asn) n.2545A>T n.422A>T c.1709A>T c.2682A>T (p.Lys894Asn) c.2217A>T (p.Lys739Asn) | gnomAD v4 |
| 18 | g.23539975T>C | CA503322679 | NPC1 | c.2631A>G (p.Lys877=) n.2545A>G n.422A>G c.1709A>G c.2682A>G (p.Lys894=) c.2217A>G (p.Lys739=) | gnomAD v4 |
| 18 | g.23539975T>G | CA401792988 | NPC1 | c.2631A>C (p.Lys877Asn) n.2545A>C n.422A>C c.1709A>C c.2682A>C (p.Lys894Asn) c.2217A>C (p.Lys739Asn) | |
| 18 | g.23539976T>A | CA401792989 | NPC1 | c.2630A>T (p.Lys877Ile) n.2544A>T n.421A>T c.1708A>T c.2681A>T (p.Lys894Ile) c.2216A>T (p.Lys739Ile) | |
| 18 | g.23539976T>C | CA401792990 | NPC1 | c.2630A>G (p.Lys877Arg) n.2544A>G n.421A>G c.1708A>G c.2681A>G (p.Lys894Arg) c.2216A>G (p.Lys739Arg) | |
| 18 | g.23539976T>G | CA8913011 | NPC1 | c.2630A>C (p.Lys877Thr) n.2544A>C n.421A>C c.1708A>C c.2681A>C (p.Lys894Thr) c.2216A>C (p.Lys739Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23539976T= | CA2290165977 | NPC1 | c.2630A= (p.Lys877=) n.2544A= n.421A= c.1708A= c.2681A= (p.Lys894=) c.2216A= (p.Lys739=) | |
| 18 | g.23539977T>A | CA401792991 | NPC1 | c.2629A>T (p.Lys877Ter) n.2543A>T n.420A>T c.1707A>T c.2680A>T (p.Lys894Ter) c.2215A>T (p.Lys739Ter) | |
| 18 | g.23539977T>C | CA401792992 | NPC1 | c.2629A>G (p.Lys877Glu) n.2543A>G n.420A>G c.1707A>G c.2680A>G (p.Lys894Glu) c.2215A>G (p.Lys739Glu) | gnomAD v4 |
| 18 | g.23539977T>G | CA401792993 | NPC1 | c.2629A>C (p.Lys877Gln) n.2543A>C n.420A>C c.1707A>C c.2680A>C (p.Lys894Gln) c.2215A>C (p.Lys739Gln) | |
| 18 | g.23539978G>A | CA503322680 | NPC1 | c.2628C>T (p.Phe876=) n.2542C>T n.419C>T c.1706C>T c.2679C>T (p.Phe893=) c.2214C>T (p.Phe738=) | dbSNP gnomAD v4 |
| 18 | g.23539978G>C | CA401792994 | NPC1 | c.2628C>G (p.Phe876Leu) n.2542C>G n.419C>G c.1706C>G c.2679C>G (p.Phe893Leu) c.2214C>G (p.Phe738Leu) | |
| 18 | g.23539978G= | CA2290165978 | NPC1 | c.2628C= (p.Phe876=) n.2542C= n.419C= c.1706C= c.2679C= (p.Phe893=) c.2214C= (p.Phe738=) | |
| 18 | g.23539978G>T | CA401792995 | NPC1 | c.2628C>A (p.Phe876Leu) n.2542C>A n.419C>A c.1706C>A c.2679C>A (p.Phe893Leu) c.2214C>A (p.Phe738Leu) | |
| 18 | g.23539979A>C | CA401792996 | NPC1 | c.2627T>G (p.Phe876Cys) n.2541T>G n.418T>G c.1705T>G c.2678T>G (p.Phe893Cys) c.2213T>G (p.Phe738Cys) | |
| 18 | g.23539979A>G | CA401792997 | NPC1 | c.2627T>C (p.Phe876Ser) n.2541T>C n.418T>C c.1705T>C c.2678T>C (p.Phe893Ser) c.2213T>C (p.Phe738Ser) | |
| 18 | g.23539979A>T | CA401792998 | NPC1 | c.2627T>A (p.Phe876Tyr) n.2541T>A n.418T>A c.1705T>A c.2678T>A (p.Phe893Tyr) c.2213T>A (p.Phe738Tyr) | |
| 18 | g.23539980A>C | CA401792999 | NPC1 | c.2626T>G (p.Phe876Val) n.2540T>G n.417T>G c.1704T>G c.2677T>G (p.Phe893Val) c.2212T>G (p.Phe738Val) | |
| 18 | g.23539980A>G | CA401793000 | NPC1 | c.2626T>C (p.Phe876Leu) n.2540T>C n.417T>C c.1704T>C c.2677T>C (p.Phe893Leu) c.2212T>C (p.Phe738Leu) | |
| 18 | g.23539980A>T | CA401793001 | NPC1 | c.2626T>A (p.Phe876Ile) n.2540T>A n.417T>A c.1704T>A c.2677T>A (p.Phe893Ile) c.2212T>A (p.Phe738Ile) | |
| 18 | g.23539981A= | CA2290165979 | NPC1 | c.2625T= (p.Tyr875=) n.2539T= n.416T= c.1703T= c.2676T= (p.Tyr892=) c.2211T= (p.Tyr737=) | |
| 18 | g.23539981A>C | CA401793002 | NPC1 | c.2625T>G (p.Tyr875Ter) n.2539T>G n.416T>G c.1703T>G c.2676T>G (p.Tyr892Ter) c.2211T>G (p.Tyr737Ter) | ClinVar dbSNP |
| 18 | g.23539981A>G | CA503322681 | NPC1 | c.2625T>C (p.Tyr875=) n.2539T>C n.416T>C c.1703T>C c.2676T>C (p.Tyr892=) c.2211T>C (p.Tyr737=) | |
| 18 | g.23539981A>T | CA401793003 | NPC1 | c.2625T>A (p.Tyr875Ter) n.2539T>A n.416T>A c.1703T>A c.2676T>A (p.Tyr892Ter) c.2211T>A (p.Tyr737Ter) | |
| 18 | g.23539982T>A | CA401793004 | NPC1 | c.2624A>T (p.Tyr875Phe) n.2538A>T n.415A>T c.1702A>T c.2675A>T (p.Tyr892Phe) c.2210A>T (p.Tyr737Phe) | gnomAD v4 |
| 18 | g.23539982T>C | CA401793005 | NPC1 | c.2624A>G (p.Tyr875Cys) n.2538A>G n.415A>G c.1702A>G c.2675A>G (p.Tyr892Cys) c.2210A>G (p.Tyr737Cys) | |
| 18 | g.23539982T>G | CA401793006 | NPC1 | c.2624A>C (p.Tyr875Ser) n.2538A>C n.415A>C c.1702A>C c.2675A>C (p.Tyr892Ser) c.2210A>C (p.Tyr737Ser) | |
| 18 | g.23539983A>C | CA401793007 | NPC1 | c.2623T>G (p.Tyr875Asp) n.2537T>G n.414T>G c.1701T>G c.2674T>G (p.Tyr892Asp) c.2209T>G (p.Tyr737Asp) | |
| 18 | g.23539983A>G | CA401793008 | NPC1 | c.2623T>C (p.Tyr875His) n.2537T>C n.414T>C c.1701T>C c.2674T>C (p.Tyr892His) c.2209T>C (p.Tyr737His) | |
| 18 | g.23539983A>T | CA401793009 | NPC1 | c.2623T>A (p.Tyr875Asn) n.2537T>A n.414T>A c.1701T>A c.2674T>A (p.Tyr892Asn) c.2209T>A (p.Tyr737Asn) | |
| 18 | g.23539984A>C | CA401793010 | NPC1 | c.2622T>G (p.Asp874Glu) n.2536T>G n.413T>G c.1700T>G c.2673T>G (p.Asp891Glu) c.2208T>G (p.Asp736Glu) | |
| 18 | g.23539984A>G | CA503322682 | NPC1 | c.2622T>C (p.Asp874=) n.2536T>C n.413T>C c.1700T>C c.2673T>C (p.Asp891=) c.2208T>C (p.Asp736=) | gnomAD v4 |
| 18 | g.23539984A>T | CA401793011 | NPC1 | c.2622T>A (p.Asp874Glu) n.2536T>A n.413T>A c.1700T>A c.2673T>A (p.Asp891Glu) c.2208T>A (p.Asp736Glu) | |
| 18 | g.23539984_23539985insAAAACTTAAAACTCTTGTTTATA | CA2641273874 | NPC1 | c.2622_2623insATAAACAAGAGTTTTAAGTTTTT (p.Tyr875IlefsTer?) n.2536_2537insATAAACAAGAGTTTTAAGTTTTT n.413_414insATAAACAAGAGTTTTAAGTTTTT c.1700_1701insATAAACAAGAGTTTTAAGTTTTT c.2673_2674insATAAACAAGAGTTTTAAGTTTTT (p.Tyr892IlefsTer?) c.2208_2209insATAAACAAGAGTTTTAAGTTTTT (p.Tyr737IlefsTer?) | gnomAD v4 |
| 18 | g.23539985T>A | CA275049 | NPC1 | c.2621A>T (p.Asp874Val) n.2535A>T n.412A>T c.1699A>T c.2672A>T (p.Asp891Val) c.2207A>T (p.Asp736Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23539985T>C | CA401793012 | NPC1 | c.2621A>G (p.Asp874Gly) n.2535A>G n.412A>G c.1699A>G c.2672A>G (p.Asp891Gly) c.2207A>G (p.Asp736Gly) | |
| 18 | g.23539985T>G | CA401793013 | NPC1 | c.2621A>C (p.Asp874Ala) n.2535A>C n.412A>C c.1699A>C c.2672A>C (p.Asp891Ala) c.2207A>C (p.Asp736Ala) | |
| 18 | g.23539985T= | CA2290165980 | NPC1 | c.2621A= (p.Asp874=) n.2535A= n.412A= c.1699A= c.2672A= (p.Asp891=) c.2207A= (p.Asp736=) | |
| 18 | g.23539986C>A | CA401793014 | NPC1 | c.2620G>T (p.Asp874Tyr) n.2534G>T n.411G>T c.1698G>T c.2671G>T (p.Asp891Tyr) c.2206G>T (p.Asp736Tyr) | |
| 18 | g.23539986C>G | CA401793016 | NPC1 | c.2620G>C (p.Asp874His) n.2534G>C n.411G>C c.1698G>C c.2671G>C (p.Asp891His) c.2206G>C (p.Asp736His) | |
| 18 | g.23539986C>T | CA401793015 | NPC1 | c.2620G>A (p.Asp874Asn) n.2534G>A n.411G>A c.1698G>A c.2671G>A (p.Asp891Asn) c.2206G>A (p.Asp736Asn) | |
| 18 | g.23539987C>A | CA503322683 | NPC1 | c.2619G>T (p.Val873=) n.2533G>T n.410G>T c.1697G>T c.2670G>T (p.Val890=) c.2205G>T (p.Val735=) | |
| 18 | g.23539987C= | CA2290165981 | NPC1 | c.2619G= (p.Val873=) n.2533G= n.410G= c.1697G= c.2670G= (p.Val890=) c.2205G= (p.Val735=) | |
| 18 | g.23539987C>G | CA503322684 | NPC1 | c.2619G>C (p.Val873=) n.2533G>C n.410G>C c.1697G>C c.2670G>C (p.Val890=) c.2205G>C (p.Val735=) | |
| 18 | g.23539987C>T | CA503322685 | NPC1 | c.2619G>A (p.Val873=) n.2533G>A n.410G>A c.1697G>A c.2670G>A (p.Val890=) c.2205G>A (p.Val735=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23539988A>C | CA401793017 | NPC1 | c.2618T>G (p.Val873Gly) n.2532T>G n.409T>G c.1696T>G c.2669T>G (p.Val890Gly) c.2204T>G (p.Val735Gly) | |
| 18 | g.23539988A>G | CA401793019 | NPC1 | c.2618T>C (p.Val873Ala) n.2532T>C n.409T>C c.1696T>C c.2669T>C (p.Val890Ala) c.2204T>C (p.Val735Ala) | |
| 18 | g.23539988A>T | CA401793018 | NPC1 | c.2618T>A (p.Val873Glu) n.2532T>A n.409T>A c.1696T>A c.2669T>A (p.Val890Glu) c.2204T>A (p.Val735Glu) | |
| 18 | g.23539989C>A | CA401793020 | NPC1 | c.2617G>T (p.Val873Leu) n.2531G>T n.408G>T c.1695G>T c.2668G>T (p.Val890Leu) c.2203G>T (p.Val735Leu) | |
| 18 | g.23539989C= | CA2290165982 | NPC1 | c.2617G= (p.Val873=) n.2531G= n.408G= c.1695G= c.2668G= (p.Val890=) c.2203G= (p.Val735=) | |
| 18 | g.23539989C>G | CA401793021 | NPC1 | c.2617G>C (p.Val873Leu) n.2531G>C n.408G>C c.1695G>C c.2668G>C (p.Val890Leu) c.2203G>C (p.Val735Leu) | |
| 18 | g.23539989C>T | CA401793022 | NPC1 | c.2617G>A (p.Val873Met) n.2531G>A n.408G>A c.1695G>A c.2668G>A (p.Val890Met) c.2203G>A (p.Val735Met) | ClinVar dbSNP |
| 18 | g.23539990C>A | CA401793023 | NPC1 | c.2616G>T (p.Met872Ile) n.2530G>T n.407G>T c.1694G>T c.2667G>T (p.Met889Ile) c.2202G>T (p.Met734Ile) | |
| 18 | g.23539990C= | CA2290165983 | NPC1 | c.2616G= (p.Met872=) n.2530G= n.407G= c.1694G= c.2667G= (p.Met889=) c.2202G= (p.Met734=) | |
| 18 | g.23539990C>G | CA401793024 | NPC1 | c.2616G>C (p.Met872Ile) n.2530G>C n.407G>C c.1694G>C c.2667G>C (p.Met889Ile) c.2202G>C (p.Met734Ile) | dbSNP |
| 18 | g.23539990C>T | CA401793025 | NPC1 | c.2616G>A (p.Met872Ile) n.2530G>A n.407G>A c.1694G>A c.2667G>A (p.Met889Ile) c.2202G>A (p.Met734Ile) | |
| 18 | g.23539991A= | CA2290165984 | NPC1 | c.2615T= (p.Met872=) n.2529T= n.406T= c.1693T= c.2666T= (p.Met889=) c.2201T= (p.Met734=) | |
| 18 | g.23539991A>C | CA401793028 | NPC1 | c.2615T>G (p.Met872Arg) n.2529T>G n.406T>G c.1693T>G c.2666T>G (p.Met889Arg) c.2201T>G (p.Met734Arg) | |
| 18 | g.23539991A>G | CA401793026 | NPC1 | c.2615T>C (p.Met872Thr) n.2529T>C n.406T>C c.1693T>C c.2666T>C (p.Met889Thr) c.2201T>C (p.Met734Thr) | dbSNP |
| 18 | g.23539991A>T | CA401793027 | NPC1 | c.2615T>A (p.Met872Lys) n.2529T>A n.406T>A c.1693T>A c.2666T>A (p.Met889Lys) c.2201T>A (p.Met734Lys) | |
| 18 | g.23539992T>A | CA401793029 | NPC1 | c.2614A>T (p.Met872Leu) n.2528A>T n.405A>T c.1692A>T c.2665A>T (p.Met889Leu) c.2200A>T (p.Met734Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23539992T>C | CA8913012 | NPC1 | c.2614A>G (p.Met872Val) n.2528A>G n.405A>G c.1692A>G c.2665A>G (p.Met889Val) c.2200A>G (p.Met734Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23539992T>G | CA401793030 | NPC1 | c.2614A>C (p.Met872Leu) n.2528A>C n.405A>C c.1692A>C c.2665A>C (p.Met889Leu) c.2200A>C (p.Met734Leu) | |
| 18 | g.23539992T= | CA2290165985 | NPC1 | c.2614A= (p.Met872=) n.2528A= n.405A= c.1692A= c.2665A= (p.Met889=) c.2200A= (p.Met734=) | |
| 18 | g.23539993G>A | CA503322686 | NPC1 | c.2613C>T (p.Tyr871=) n.2527C>T n.404C>T c.1691C>T c.2664C>T (p.Tyr888=) c.2199C>T (p.Tyr733=) | ClinVar |
| 18 | g.23539993G>C | CA401793031 | NPC1 | c.2613C>G (p.Tyr871Ter) n.2527C>G n.404C>G c.1691C>G c.2664C>G (p.Tyr888Ter) c.2199C>G (p.Tyr733Ter) | |
| 18 | g.23539993G>T | CA401793032 | NPC1 | c.2613C>A (p.Tyr871Ter) n.2527C>A n.404C>A c.1691C>A c.2664C>A (p.Tyr888Ter) c.2199C>A (p.Tyr733Ter) | |
| 18 | g.23539994del | CA2580095536 | NPC1 | c.2612del (p.Tyr871SerfsTer?) n.2526del n.403del c.1690del c.2663del (p.Tyr888SerfsTer?) c.2198del (p.Tyr733SerfsTer?) | ClinVar |
| 18 | g.23539994T>A | CA401793033 | NPC1 | c.2612A>T (p.Tyr871Phe) n.2526A>T n.403A>T c.1690A>T c.2663A>T (p.Tyr888Phe) c.2198A>T (p.Tyr733Phe) | |
| 18 | g.23539994T>C | CA401793035 | NPC1 | c.2612A>G (p.Tyr871Cys) n.2526A>G n.403A>G c.1690A>G c.2663A>G (p.Tyr888Cys) c.2198A>G (p.Tyr733Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23539994T>G | CA401793034 | NPC1 | c.2612A>C (p.Tyr871Ser) n.2526A>C n.403A>C c.1690A>C c.2663A>C (p.Tyr888Ser) c.2198A>C (p.Tyr733Ser) | |
| 18 | g.23539994T= | CA2290165986 | NPC1 | c.2612A= (p.Tyr871=) n.2526A= n.403A= c.1690A= c.2663A= (p.Tyr888=) c.2198A= (p.Tyr733=) | |
| 18 | g.23539995A>C | CA401793036 | NPC1 | c.2611T>G (p.Tyr871Asp) n.2525T>G n.402T>G c.1689T>G c.2662T>G (p.Tyr888Asp) c.2197T>G (p.Tyr733Asp) | gnomAD v4 |
| 18 | g.23539995A>G | CA401793037 | NPC1 | c.2611T>C (p.Tyr871His) n.2525T>C n.402T>C c.1689T>C c.2662T>C (p.Tyr888His) c.2197T>C (p.Tyr733His) | |
| 18 | g.23539995A>T | CA401793038 | NPC1 | c.2611T>A (p.Tyr871Asn) n.2525T>A n.402T>A c.1689T>A c.2662T>A (p.Tyr888Asn) c.2197T>A (p.Tyr733Asn) | |
| 18 | g.23539996G>A | CA503322687 | NPC1 | c.2610C>T (p.Ser870=) n.2524C>T n.401C>T c.1688C>T c.2661C>T (p.Ser887=) c.2196C>T (p.Ser732=) | |
| 18 | g.23539996G>C | CA503322688 | NPC1 | c.2610C>G (p.Ser870=) n.2524C>G n.401C>G c.1688C>G c.2661C>G (p.Ser887=) c.2196C>G (p.Ser732=) | |
| 18 | g.23539996G>T | CA503322689 | NPC1 | c.2610C>A (p.Ser870=) n.2524C>A n.401C>A c.1688C>A c.2661C>A (p.Ser887=) c.2196C>A (p.Ser732=) | |
| 18 | g.23539997G>A | CA401793039 | NPC1 | c.2609C>T (p.Ser870Phe) n.2523C>T n.400C>T c.1687C>T c.2660C>T (p.Ser887Phe) c.2195C>T (p.Ser732Phe) | |
| 18 | g.23539997G>C | CA401793040 | NPC1 | c.2609C>G (p.Ser870Cys) n.2523C>G n.400C>G c.1687C>G c.2660C>G (p.Ser887Cys) c.2195C>G (p.Ser732Cys) | |
| 18 | g.23539997G>T | CA401793041 | NPC1 | c.2609C>A (p.Ser870Tyr) n.2523C>A n.400C>A c.1687C>A c.2660C>A (p.Ser887Tyr) c.2195C>A (p.Ser732Tyr) | |
| 18 | g.23539998A= | CA2290165987 | NPC1 | c.2608T= (p.Ser870=) n.2522T= n.399T= c.1686T= c.2659T= (p.Ser887=) c.2194T= (p.Ser732=) | |
| 18 | g.23539998A>C | CA401793042 | NPC1 | c.2608T>G (p.Ser870Ala) n.2522T>G n.399T>G c.1686T>G c.2659T>G (p.Ser887Ala) c.2194T>G (p.Ser732Ala) | |
| 18 | g.23539998A>G | CA401793043 | NPC1 | c.2608T>C (p.Ser870Pro) n.2522T>C n.399T>C c.1686T>C c.2659T>C (p.Ser887Pro) c.2194T>C (p.Ser732Pro) | |
| 18 | g.23539998A>T | CA401793044 | NPC1 | c.2608T>A (p.Ser870Thr) n.2522T>A n.399T>A c.1686T>A c.2659T>A (p.Ser887Thr) c.2194T>A (p.Ser732Thr) | ClinVar dbSNP |
| 18 | g.23539999G>A | CA503322690 | NPC1 | c.2607C>T (p.Asp869=) n.2521C>T n.398C>T c.1685C>T c.2658C>T (p.Asp886=) c.2193C>T (p.Asp731=) | |
| 18 | g.23539999G>C | CA401793045 | NPC1 | c.2607C>G (p.Asp869Glu) n.2521C>G n.398C>G c.1685C>G c.2658C>G (p.Asp886Glu) c.2193C>G (p.Asp731Glu) | |
| 18 | g.23539999G>T | CA401793046 | NPC1 | c.2607C>A (p.Asp869Glu) n.2521C>A n.398C>A c.1685C>A c.2658C>A (p.Asp886Glu) c.2193C>A (p.Asp731Glu) | |
| 18 | g.23539999dup | CA2641273889 | NPC1 | c.2607dup (p.Ser870LeufsTer?) n.2521dup n.398dup c.1685dup c.2658dup (p.Ser887LeufsTer?) c.2193dup (p.Ser732LeufsTer?) | gnomAD v4 |
| 18 | g.23540000T>A | CA401793047 | NPC1 | c.2606A>T (p.Asp869Val) n.2520A>T n.397A>T c.1684A>T c.2657A>T (p.Asp886Val) c.2192A>T (p.Asp731Val) | |
| 18 | g.23540000T>C | CA401793049 | NPC1 | c.2606A>G (p.Asp869Gly) n.2520A>G n.397A>G c.1684A>G c.2657A>G (p.Asp886Gly) c.2192A>G (p.Asp731Gly) | |
| 18 | g.23540000T>G | CA401793048 | NPC1 | c.2606A>C (p.Asp869Ala) n.2520A>C n.397A>C c.1684A>C c.2657A>C (p.Asp886Ala) c.2192A>C (p.Asp731Ala) | |
| 18 | g.23540001C>A | CA401793050 | NPC1 | c.2605G>T (p.Asp869Tyr) n.2519G>T n.396G>T c.1683G>T c.2656G>T (p.Asp886Tyr) c.2191G>T (p.Asp731Tyr) | |
| 18 | g.23540001C>G | CA401793051 | NPC1 | c.2605G>C (p.Asp869His) n.2519G>C n.396G>C c.1683G>C c.2656G>C (p.Asp886His) c.2191G>C (p.Asp731His) | |
| 18 | g.23540001C>T | CA401793052 | NPC1 | c.2605G>A (p.Asp869Asn) n.2519G>A n.396G>A c.1683G>A c.2656G>A (p.Asp886Asn) c.2191G>A (p.Asp731Asn) | |
| 18 | g.23540002C>A | CA401793053 | NPC1 | c.2605-1G>T (n.2605-1G>T) n.2519-1G>T n.396-1G>T c.1683-1G>T c.2656-1G>T (n.2656-1G>T) c.2191-1G>T (n.2191-1G>T) | dbSNP |
| 18 | g.23540002C= | CA2290165988 | NPC1 | c.2605-1G= (n.2605-1G=) n.2519-1G= n.396-1G= c.1683-1G= c.2656-1G= (n.2656-1G=) c.2191-1G= (n.2191-1G=) | |
| 18 | g.23540002C>G | CA401793054 | NPC1 | c.2605-1G>C (n.2605-1G>C) n.2519-1G>C n.396-1G>C c.1683-1G>C c.2656-1G>C (n.2656-1G>C) c.2191-1G>C (n.2191-1G>C) | |
| 18 | g.23540002C>T | CA401793055 | NPC1 | c.2605-1G>A (n.2605-1G>A) n.2519-1G>A n.396-1G>A c.1683-1G>A c.2656-1G>A (n.2656-1G>A) c.2191-1G>A (n.2191-1G>A) | |
| 18 | g.23540003T>A | CA401793056 | NPC1 | c.2605-2A>T (n.2605-2A>T) n.2519-2A>T n.396-2A>T c.1683-2A>T c.2656-2A>T (n.2656-2A>T) c.2191-2A>T (n.2191-2A>T) | |
| 18 | g.23540003T>C | CA401793057 | NPC1 | c.2605-2A>G (n.2605-2A>G) n.2519-2A>G n.396-2A>G c.1683-2A>G c.2656-2A>G (n.2656-2A>G) c.2191-2A>G (n.2191-2A>G) | |
| 18 | g.23540003T>G | CA401793058 | NPC1 | c.2605-2A>C (n.2605-2A>C) n.2519-2A>C n.396-2A>C c.1683-2A>C c.2656-2A>C (n.2656-2A>C) c.2191-2A>C (n.2191-2A>C) | gnomAD v4 |
| 18 | g.23540003_23540007delinsTGAAA | CA2290165989 | NPC1 | c.2605-6_2605-2delinsTTTCA (n.2605-6_2605-2delinsTTTCA) n.2519-6_2519-2delinsTTTCA n.396-6_396-2delinsTTTCA c.1683-6_1683-2delinsTTTCA c.2656-6_2656-2delinsTTTCA (n.2656-6_2656-2delinsTTTCA) c.2191-6_2191-2delinsTTTCA (n.2191-6_2191-2delinsTTTCA) | |
| 18 | g.23540004_23540014del | CA2641273893 | NPC1 | c.2605-12_2605-2del (n.2605-12_2605-2del) n.2519-12_2519-2del n.396-12_396-2del c.1683-12_1683-2del c.2656-12_2656-2del (n.2656-12_2656-2del) c.2191-12_2191-2del (n.2191-12_2191-2del) | gnomAD v4 |
| 18 | g.23540004G>A | CA2641273896 | NPC1 | c.2605-3C>T (n.2605-3C>T) n.2519-3C>T n.396-3C>T c.1683-3C>T c.2656-3C>T (n.2656-3C>T) c.2191-3C>T (n.2191-3C>T) | gnomAD v4 |
| 18 | g.23540010_23540013del | CA8913013 | NPC1 | c.2605-6_2605-3del (n.2605-6_2605-3del) n.2519-6_2519-3del n.396-6_396-3del c.1683-6_1683-3del c.2656-6_2656-3del (n.2656-6_2656-3del) c.2191-6_2191-3del (n.2191-6_2191-3del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23540005A>C | CA2641273897 | NPC1 | c.2605-4T>G (n.2605-4T>G) n.2519-4T>G n.396-4T>G c.1683-4T>G c.2656-4T>G (n.2656-4T>G) c.2191-4T>G (n.2191-4T>G) | gnomAD v4 |
| 18 | g.23540007A= | CA2290165990 | NPC1 | c.2605-6T= (n.2605-6T=) n.2519-6T= n.396-6T= c.1683-6T= c.2656-6T= (n.2656-6T=) c.2191-6T= (n.2191-6T=) | |
| 18 | g.23540007A>G | CA2290165991 | NPC1 | c.2605-6T>C (n.2605-6T>C) n.2519-6T>C n.396-6T>C c.1683-6T>C c.2656-6T>C (n.2656-6T>C) c.2191-6T>C (n.2191-6T>C) | dbSNP |
| 18 | g.23540008G>A | CA628978767 | NPC1 | c.2605-7C>T (n.2605-7C>T) n.2519-7C>T n.396-7C>T c.1683-7C>T c.2656-7C>T (n.2656-7C>T) c.2191-7C>T (n.2191-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23540008G= | CA2290165992 | NPC1 | c.2605-7C= (n.2605-7C=) n.2519-7C= n.396-7C= c.1683-7C= c.2656-7C= (n.2656-7C=) c.2191-7C= (n.2191-7C=) | |
| 18 | g.23540010A= | CA2290165993 | NPC1 | c.2605-9T= (n.2605-9T=) n.2519-9T= n.396-9T= c.1683-9T= c.2656-9T= (n.2656-9T=) c.2191-9T= (n.2191-9T=) | |
| 18 | g.23540010A>G | CA777720411 | NPC1 | c.2605-9T>C (n.2605-9T>C) n.2519-9T>C n.396-9T>C c.1683-9T>C c.2656-9T>C (n.2656-9T>C) c.2191-9T>C (n.2191-9T>C) | dbSNP |
| 18 | g.23540012_23540016del | CA2641273898 | NPC1 | c.2605-13_2605-9del (n.2605-13_2605-9del) n.2519-13_2519-9del n.396-13_396-9del c.1683-13_1683-9del c.2656-13_2656-9del (n.2656-13_2656-9del) c.2191-13_2191-9del (n.2191-13_2191-9del) | gnomAD v4 |
| 18 | g.23540012G>T | CA2641273899 | NPC1 | c.2605-11C>A (n.2605-11C>A) n.2519-11C>A n.396-11C>A c.1683-11C>A c.2656-11C>A (n.2656-11C>A) c.2191-11C>A (n.2191-11C>A) | gnomAD v4 |
| 18 | g.23540013A>G | CA2576470657 | NPC1 | c.2605-12T>C (n.2605-12T>C) n.2519-12T>C n.396-12T>C c.1683-12T>C c.2656-12T>C (n.2656-12T>C) c.2191-12T>C (n.2191-12T>C) | |
| 18 | g.23540014T>A | CA2290165994 | NPC1 | c.2605-13A>T (n.2605-13A>T) n.2519-13A>T n.396-13A>T c.1683-13A>T c.2656-13A>T (n.2656-13A>T) c.2191-13A>T (n.2191-13A>T) | dbSNP |
| 18 | g.23540014T>C | CA628978768 | NPC1 | c.2605-13A>G (n.2605-13A>G) n.2519-13A>G n.396-13A>G c.1683-13A>G c.2656-13A>G (n.2656-13A>G) c.2191-13A>G (n.2191-13A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23540014T= | CA2290165996 | NPC1 | c.2605-13A= (n.2605-13A=) n.2519-13A= n.396-13A= c.1683-13A= c.2656-13A= (n.2656-13A=) c.2191-13A= (n.2191-13A=) | |
| 18 | g.23540014_23540015delinsTA | CA2290165997 | NPC1 | c.2605-14_2605-13delinsTA (n.2605-14_2605-13delinsTA) n.2519-14_2519-13delinsTA n.396-14_396-13delinsTA c.1683-14_1683-13delinsTA c.2656-14_2656-13delinsTA (n.2656-14_2656-13delinsTA) c.2191-14_2191-13delinsTA (n.2191-14_2191-13delinsTA) | |
| 18 | g.23540014_23540019delinsTAAAAG | CA2290165995 | NPC1 | c.2605-18_2605-13delinsCTTTTA (n.2605-18_2605-13delinsCTTTTA) n.2519-18_2519-13delinsCTTTTA n.396-18_396-13delinsCTTTTA c.1683-18_1683-13delinsCTTTTA c.2656-18_2656-13delinsCTTTTA (n.2656-18_2656-13delinsCTTTTA) c.2191-18_2191-13delinsCTTTTA (n.2191-18_2191-13delinsCTTTTA) | |
| 18 | g.23540015A>G | CA2641273902 | NPC1 | c.2605-14T>C (n.2605-14T>C) n.2519-14T>C n.396-14T>C c.1683-14T>C c.2656-14T>C (n.2656-14T>C) c.2191-14T>C (n.2191-14T>C) | gnomAD v4 |
| 18 | g.23540018del | CA8913014 | NPC1 | c.2605-14del (n.2605-14del) n.2519-14del n.396-14del c.1683-14del c.2656-14del (n.2656-14del) c.2191-14del (n.2191-14del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23540017_23540021del | CA2290165998 | NPC1 | c.2605-18_2605-14del (n.2605-18_2605-14del) n.2519-18_2519-14del n.396-18_396-14del c.1683-18_1683-14del c.2656-18_2656-14del (n.2656-18_2656-14del) c.2191-18_2191-14del (n.2191-18_2191-14del) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23540016A>G | CA2641273906 | NPC1 | c.2605-15T>C (n.2605-15T>C) n.2519-15T>C n.396-15T>C c.1683-15T>C c.2656-15T>C (n.2656-15T>C) c.2191-15T>C (n.2191-15T>C) | ClinVar gnomAD v4 |
| 18 | g.23540016A>T | CA2641273907 | NPC1 | c.2605-15T>A (n.2605-15T>A) n.2519-15T>A n.396-15T>A c.1683-15T>A c.2656-15T>A (n.2656-15T>A) c.2191-15T>A (n.2191-15T>A) | gnomAD v4 |
| 18 | g.23540019_23540021del | CA2641273908 | NPC1 | c.2605-18_2605-16del (n.2605-18_2605-16del) n.2519-18_2519-16del n.396-18_396-16del c.1683-18_1683-16del c.2656-18_2656-16del (n.2656-18_2656-16del) c.2191-18_2191-16del (n.2191-18_2191-16del) | gnomAD v4 |
| 18 | g.23540018A>G | CA2641273910 | NPC1 | c.2605-17T>C (n.2605-17T>C) n.2519-17T>C n.396-17T>C c.1683-17T>C c.2656-17T>C (n.2656-17T>C) c.2191-17T>C (n.2191-17T>C) | ClinVar gnomAD v4 |
| 18 | g.23540019G>C | CA2641273913 | NPC1 | c.2605-18C>G (n.2605-18C>G) n.2519-18C>G n.396-18C>G c.1683-18C>G c.2656-18C>G (n.2656-18C>G) c.2191-18C>G (n.2191-18C>G) | gnomAD v4 |
| 18 | g.23540020A>G | CA2576470659 | NPC1 | c.2605-19T>C (n.2605-19T>C) n.2519-19T>C n.396-19T>C c.1683-19T>C c.2656-19T>C (n.2656-19T>C) c.2191-19T>C (n.2191-19T>C) | |
| 18 | g.23540021A= | CA2290165999 | NPC1 | c.2605-20T= (n.2605-20T=) n.2519-20T= n.396-20T= c.1683-20T= c.2656-20T= (n.2656-20T=) c.2191-20T= (n.2191-20T=) | |
| 18 | g.23540021A>G | CA777720423 | NPC1 | c.2605-20T>C (n.2605-20T>C) n.2519-20T>C n.396-20T>C c.1683-20T>C c.2656-20T>C (n.2656-20T>C) c.2191-20T>C (n.2191-20T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23540022_23540029delinsTAGGAGAG | CA2290166000 | NPC1 | c.2605-28_2605-21delinsCTCTCCTA (n.2605-28_2605-21delinsCTCTCCTA) n.2519-28_2519-21delinsCTCTCCTA n.396-28_396-21delinsCTCTCCTA c.1683-28_1683-21delinsCTCTCCTA c.2656-28_2656-21delinsCTCTCCTA (n.2656-28_2656-21delinsCTCTCCTA) c.2191-28_2191-21delinsCTCTCCTA (n.2191-28_2191-21delinsCTCTCCTA) | |
| 18 | g.23540023A= | CA2290166001 | NPC1 | c.2605-22T= (n.2605-22T=) n.2519-22T= n.396-22T= c.1683-22T= c.2656-22T= (n.2656-22T=) c.2191-22T= (n.2191-22T=) | |
| 18 | g.23540023A>G | CA2641273916 | NPC1 | c.2605-22T>C (n.2605-22T>C) n.2519-22T>C n.396-22T>C c.1683-22T>C c.2656-22T>C (n.2656-22T>C) c.2191-22T>C (n.2191-22T>C) | gnomAD v4 |
| 18 | g.23540025_23540031del | CA777720432 | NPC1 | c.2605-28_2605-22del (n.2605-28_2605-22del) n.2519-28_2519-22del n.396-28_396-22del c.1683-28_1683-22del c.2656-28_2656-22del (n.2656-28_2656-22del) c.2191-28_2191-22del (n.2191-28_2191-22del) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23540024G>C | CA2290166003 | NPC1 | c.2605-23C>G (n.2605-23C>G) n.2519-23C>G n.396-23C>G c.1683-23C>G c.2656-23C>G (n.2656-23C>G) c.2191-23C>G (n.2191-23C>G) | dbSNP gnomAD v4 |
| 18 | g.23540024G= | CA2290166002 | NPC1 | c.2605-23C= (n.2605-23C=) n.2519-23C= n.396-23C= c.1683-23C= c.2656-23C= (n.2656-23C=) c.2191-23C= (n.2191-23C=) | |
| 18 | g.23540025dup | CA988381894 | NPC1 | c.2605-23dup (n.2605-23dup) n.2519-23dup n.396-23dup c.1683-23dup c.2656-23dup (n.2656-23dup) c.2191-23dup (n.2191-23dup) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23540024_23540026delinsGGA | CA2290166004 | NPC1 | c.2605-25_2605-23delinsTCC (n.2605-25_2605-23delinsTCC) n.2519-25_2519-23delinsTCC n.396-25_396-23delinsTCC c.1683-25_1683-23delinsTCC c.2656-25_2656-23delinsTCC (n.2656-25_2656-23delinsTCC) c.2191-25_2191-23delinsTCC (n.2191-25_2191-23delinsTCC) | |
| 18 | g.23540025G>A | CA8913015 | NPC1 | c.2605-24C>T (n.2605-24C>T) n.2519-24C>T n.396-24C>T c.1683-24C>T c.2656-24C>T (n.2656-24C>T) c.2191-24C>T (n.2191-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23540025G= | CA2290166006 | NPC1 | c.2605-24C= (n.2605-24C=) n.2519-24C= n.396-24C= c.1683-24C= c.2656-24C= (n.2656-24C=) c.2191-24C= (n.2191-24C=) | |
| 18 | g.23540030_23540031del | CA2290166005 | NPC1 | c.2605-25_2605-24del (n.2605-25_2605-24del) n.2519-25_2519-24del n.396-25_396-24del c.1683-25_1683-24del c.2656-25_2656-24del (n.2656-25_2656-24del) c.2191-25_2191-24del (n.2191-25_2191-24del) | dbSNP |
| 18 | g.23540027G>A | CA2576470662 | NPC1 | c.2605-26C>T (n.2605-26C>T) n.2519-26C>T n.396-26C>T c.1683-26C>T c.2656-26C>T (n.2656-26C>T) c.2191-26C>T (n.2191-26C>T) | |
| 18 | g.23540027G>T | CA2641273922 | NPC1 | c.2605-26C>A (n.2605-26C>A) n.2519-26C>A n.396-26C>A c.1683-26C>A c.2656-26C>A (n.2656-26C>A) c.2191-26C>A (n.2191-26C>A) | gnomAD v4 |
| 18 | g.23540028A= | CA2290166008 | NPC1 | c.2605-27T= (n.2605-27T=) n.2519-27T= n.396-27T= c.1683-27T= c.2656-27T= (n.2656-27T=) c.2191-27T= (n.2191-27T=) | |
| 18 | g.23540028A>G | CA2290166007 | NPC1 | c.2605-27T>C (n.2605-27T>C) n.2519-27T>C n.396-27T>C c.1683-27T>C c.2656-27T>C (n.2656-27T>C) c.2191-27T>C (n.2191-27T>C) | dbSNP gnomAD v4 |
| 18 | g.23540029G>A | CA8913016 | NPC1 | c.2605-28C>T (n.2605-28C>T) n.2519-28C>T n.396-28C>T c.1683-28C>T c.2656-28C>T (n.2656-28C>T) c.2191-28C>T (n.2191-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23540029G>C | CA8913017 | NPC1 | c.2605-28C>G (n.2605-28C>G) n.2519-28C>G n.396-28C>G c.1683-28C>G c.2656-28C>G (n.2656-28C>G) c.2191-28C>G (n.2191-28C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23540029G= | CA2290166009 | NPC1 | c.2605-28C= (n.2605-28C=) n.2519-28C= n.396-28C= c.1683-28C= c.2656-28C= (n.2656-28C=) c.2191-28C= (n.2191-28C=) | |
| 18 | g.23540029G>T | CA2641273925 | NPC1 | c.2605-28C>A (n.2605-28C>A) n.2519-28C>A n.396-28C>A c.1683-28C>A c.2656-28C>A (n.2656-28C>A) c.2191-28C>A (n.2191-28C>A) | gnomAD v4 |
| 18 | g.23540030A= | CA2290166010 | NPC1 | c.2605-29T= (n.2605-29T=) n.2519-29T= n.396-29T= c.1683-29T= c.2656-29T= (n.2656-29T=) c.2191-29T= (n.2191-29T=) | |
| 18 | g.23540030A>T | CA8913018 | NPC1 | c.2605-29T>A (n.2605-29T>A) n.2519-29T>A n.396-29T>A c.1683-29T>A c.2656-29T>A (n.2656-29T>A) c.2191-29T>A (n.2191-29T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23540031G>C | CA2641273930 | NPC1 | c.2605-30C>G (n.2605-30C>G) n.2519-30C>G n.396-30C>G c.1683-30C>G c.2656-30C>G (n.2656-30C>G) c.2191-30C>G (n.2191-30C>G) | gnomAD v4 |
| 18 | g.23540031G>T | CA2641273932 | NPC1 | c.2605-30C>A (n.2605-30C>A) n.2519-30C>A n.396-30C>A c.1683-30C>A c.2656-30C>A (n.2656-30C>A) c.2191-30C>A (n.2191-30C>A) | gnomAD v4 |
| 18 | g.23540032T>C | CA8913019 | NPC1 | c.2605-31A>G (n.2605-31A>G) n.2519-31A>G n.396-31A>G c.1683-31A>G c.2656-31A>G (n.2656-31A>G) c.2191-31A>G (n.2191-31A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23540032T>G | CA777720443 | NPC1 | c.2605-31A>C (n.2605-31A>C) n.2519-31A>C n.396-31A>C c.1683-31A>C c.2656-31A>C (n.2656-31A>C) c.2191-31A>C (n.2191-31A>C) | dbSNP |
| 18 | g.23540032T= | CA2290166011 | NPC1 | c.2605-31A= (n.2605-31A=) n.2519-31A= n.396-31A= c.1683-31A= c.2656-31A= (n.2656-31A=) c.2191-31A= (n.2191-31A=) | |
| 18 | g.23540033G>T | CA2811805063 | NPC1 | c.2605-32C>A (n.2605-32C>A) n.2519-32C>A n.396-32C>A c.1683-32C>A c.2656-32C>A (n.2656-32C>A) c.2191-32C>A (n.2191-32C>A) | |
| 18 | g.23540035G>A | CA8913020 | NPC1 | c.2605-34C>T (n.2605-34C>T) n.2519-34C>T n.396-34C>T c.1683-34C>T c.2656-34C>T (n.2656-34C>T) c.2191-34C>T (n.2191-34C>T) | dbSNP ExAC |
| 18 | g.23540035G= | CA2290166012 | NPC1 | c.2605-34C= (n.2605-34C=) n.2519-34C= n.396-34C= c.1683-34C= c.2656-34C= (n.2656-34C=) c.2191-34C= (n.2191-34C=) | |
| 18 | g.23540035G>T | CA2576470663 | NPC1 | c.2605-34C>A (n.2605-34C>A) n.2519-34C>A n.396-34C>A c.1683-34C>A c.2656-34C>A (n.2656-34C>A) c.2191-34C>A (n.2191-34C>A) | gnomAD v4 |
| 18 | g.23540036A= | CA2290166013 | NPC1 | c.2605-35T= (n.2605-35T=) n.2519-35T= n.396-35T= c.1683-35T= c.2656-35T= (n.2656-35T=) c.2191-35T= (n.2191-35T=) | |
| 18 | g.23540036A>C | CA2576470665 | NPC1 | c.2605-35T>G (n.2605-35T>G) n.2519-35T>G n.396-35T>G c.1683-35T>G c.2656-35T>G (n.2656-35T>G) c.2191-35T>G (n.2191-35T>G) | gnomAD v4 |
| 18 | g.23540036_23540037insTATAAAAAGTCTACATACAGGCAGCATCCCAAAT | CA8913021 | NPC1 | c.2605-36_2605-35insATTTGGGATGCTGCCTGTATGTAGACTTTTTATA (n.2605-36_2605-35insATTTGGGATGCTGCCTGTATGTAGACTTTTTATA) n.2519-36_2519-35insATTTGGGATGCTGCCTGTATGTAGACTTTTTATA n.396-36_396-35insATTTGGGATGCTGCCTGTATGTAGACTTTTTATA c.1683-36_1683-35insATTTGGGATGCTGCCTGTATGTAGACTTTTTATA c.2656-36_2656-35insATTTGGGATGCTGCCTGTATGTAGACTTTTTATA (n.2656-36_2656-35insATTTGGGATGCTGCCTGTATGTAGACTTTTTATA) c.2191-36_2191-35insATTTGGGATGCTGCCTGTATGTAGACTTTTTATA (n.2191-36_2191-35insATTTGGGATGCTGCCTGTATGTAGACTTTTTATA) | dbSNP ExAC |
| 18 | g.23540037A>T | CA2576470666 | NPC1 | c.2605-36T>A (n.2605-36T>A) n.2519-36T>A n.396-36T>A c.1683-36T>A c.2656-36T>A (n.2656-36T>A) c.2191-36T>A (n.2191-36T>A) | |
| 18 | g.23540038C>A | CA2641273934 | NPC1 | c.2605-37G>T (n.2605-37G>T) n.2519-37G>T n.396-37G>T c.1683-37G>T c.2656-37G>T (n.2656-37G>T) c.2191-37G>T (n.2191-37G>T) | gnomAD v4 |
| 18 | g.23540038C= | CA2290166014 | NPC1 | c.2605-37G= (n.2605-37G=) n.2519-37G= n.396-37G= c.1683-37G= c.2656-37G= (n.2656-37G=) c.2191-37G= (n.2191-37G=) | |
| 18 | g.23540038C>T | CA777720457 | NPC1 | c.2605-37G>A (n.2605-37G>A) n.2519-37G>A n.396-37G>A c.1683-37G>A c.2656-37G>A (n.2656-37G>A) c.2191-37G>A (n.2191-37G>A) | dbSNP |
| 18 | g.23540039A= | CA2290166016 | NPC1 | c.2605-38T= (n.2605-38T=) n.2519-38T= n.396-38T= c.1683-38T= c.2656-38T= (n.2656-38T=) c.2191-38T= (n.2191-38T=) | |
| 18 | g.23540039A>G | CA8913022 | NPC1 | c.2605-38T>C (n.2605-38T>C) n.2519-38T>C n.396-38T>C c.1683-38T>C c.2656-38T>C (n.2656-38T>C) c.2191-38T>C (n.2191-38T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23540039_23540041delinsACT | CA2290166015 | NPC1 | c.2605-40_2605-38delinsAGT (n.2605-40_2605-38delinsAGT) n.2519-40_2519-38delinsAGT n.396-40_396-38delinsAGT c.1683-40_1683-38delinsAGT c.2656-40_2656-38delinsAGT (n.2656-40_2656-38delinsAGT) c.2191-40_2191-38delinsAGT (n.2191-40_2191-38delinsAGT) | |
| 18 | g.23540040C= | CA2290166017 | NPC1 | c.2605-39G= (n.2605-39G=) n.2519-39G= n.396-39G= c.1683-39G= c.2656-39G= (n.2656-39G=) c.2191-39G= (n.2191-39G=) | |
| 18 | g.23540040C>G | CA8913024 | NPC1 | c.2605-39G>C (n.2605-39G>C) n.2519-39G>C n.396-39G>C c.1683-39G>C c.2656-39G>C (n.2656-39G>C) c.2191-39G>C (n.2191-39G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23540040C>T | CA628978769 | NPC1 | c.2605-39G>A (n.2605-39G>A) n.2519-39G>A n.396-39G>A c.1683-39G>A c.2656-39G>A (n.2656-39G>A) c.2191-39G>A (n.2191-39G>A) | dbSNP gnomAD v2 |
| 18 | g.23540042_23540043del | CA8913023 | NPC1 | c.2605-40_2605-39del (n.2605-40_2605-39del) n.2519-40_2519-39del n.396-40_396-39del c.1683-40_1683-39del c.2656-40_2656-39del (n.2656-40_2656-39del) c.2191-40_2191-39del (n.2191-40_2191-39del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23540042C= | CA2290166018 | NPC1 | c.2605-41G= (n.2605-41G=) n.2519-41G= n.396-41G= c.1683-41G= c.2656-41G= (n.2656-41G=) c.2191-41G= (n.2191-41G=) | |
| 18 | g.23540042C>T | CA2290166019 | NPC1 | c.2605-41G>A (n.2605-41G>A) n.2519-41G>A n.396-41G>A c.1683-41G>A c.2656-41G>A (n.2656-41G>A) c.2191-41G>A (n.2191-41G>A) | dbSNP |
| 18 | g.23540043_23540044insCTCCT | CA2641273942 | NPC1 | c.2605-41_2605-40insGAGAG (n.2605-41_2605-40insGAGAG) n.2519-41_2519-40insGAGAG n.396-41_396-40insGAGAG c.1683-41_1683-40insGAGAG c.2656-41_2656-40insGAGAG (n.2656-41_2656-40insGAGAG) c.2191-41_2191-40insGAGAG (n.2191-41_2191-40insGAGAG) | gnomAD v4 |
| 18 | g.23540043_23540044insCTCCTATTCTTTTATCTT | CA2641273944 | NPC1 | c.2605-42_2605-41insAGATAAAAGAATAGGAGA (n.2605-42_2605-41insAGATAAAAGAATAGGAGA) n.2519-42_2519-41insAGATAAAAGAATAGGAGA n.396-42_396-41insAGATAAAAGAATAGGAGA c.1683-42_1683-41insAGATAAAAGAATAGGAGA c.2656-42_2656-41insAGATAAAAGAATAGGAGA (n.2656-42_2656-41insAGATAAAAGAATAGGAGA) c.2191-42_2191-41insAGATAAAAGAATAGGAGA (n.2191-42_2191-41insAGATAAAAGAATAGGAGA) | gnomAD v4 |
| 18 | g.23540043_23540044insCTCC | CA2641273945 | NPC1 | c.2605-43_2605-42insGGAG (n.2605-43_2605-42insGGAG) n.2519-43_2519-42insGGAG n.396-43_396-42insGGAG c.1683-43_1683-42insGGAG c.2656-43_2656-42insGGAG (n.2656-43_2656-42insGGAG) c.2191-43_2191-42insGGAG (n.2191-43_2191-42insGGAG) | gnomAD v4 |
| 18 | g.23540044G>T | CA2641273947 | NPC1 | c.2605-43C>A (n.2605-43C>A) n.2519-43C>A n.396-43C>A c.1683-43C>A c.2656-43C>A (n.2656-43C>A) c.2191-43C>A (n.2191-43C>A) | gnomAD v4 |
| 18 | g.23540045A= | CA2290166020 | NPC1 | c.2605-44T= (n.2605-44T=) n.2519-44T= n.396-44T= c.1683-44T= c.2656-44T= (n.2656-44T=) c.2191-44T= (n.2191-44T=) | |
| 18 | g.23540045A>G | CA988381905 | NPC1 | c.2605-44T>C (n.2605-44T>C) n.2519-44T>C n.396-44T>C c.1683-44T>C c.2656-44T>C (n.2656-44T>C) c.2191-44T>C (n.2191-44T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23540046T>C | CA8913025 | NPC1 | c.2605-45A>G (n.2605-45A>G) n.2519-45A>G n.396-45A>G c.1683-45A>G c.2656-45A>G (n.2656-45A>G) c.2191-45A>G (n.2191-45A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23540046T>G | CA2641273950 | NPC1 | c.2605-45A>C (n.2605-45A>C) n.2519-45A>C n.396-45A>C c.1683-45A>C c.2656-45A>C (n.2656-45A>C) c.2191-45A>C (n.2191-45A>C) | gnomAD v4 |
| 18 | g.23540046T= | CA2290166021 | NPC1 | c.2605-45A= (n.2605-45A=) n.2519-45A= n.396-45A= c.1683-45A= c.2656-45A= (n.2656-45A=) c.2191-45A= (n.2191-45A=) | |
| 18 | g.23540047A= | CA2290166022 | NPC1 | c.2605-46T= (n.2605-46T=) n.2519-46T= n.396-46T= c.1683-46T= c.2656-46T= (n.2656-46T=) c.2191-46T= (n.2191-46T=) | |
| 18 | g.23540047A>G | CA8913026 | NPC1 | c.2605-46T>C (n.2605-46T>C) n.2519-46T>C n.396-46T>C c.1683-46T>C c.2656-46T>C (n.2656-46T>C) c.2191-46T>C (n.2191-46T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23540047dup | CA2641273951 | NPC1 | c.2605-46dup (n.2605-46dup) n.2519-46dup n.396-46dup c.1683-46dup c.2656-46dup (n.2656-46dup) c.2191-46dup (n.2191-46dup) | gnomAD v4 |