Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23539394G>ACA8912940NPC1c.2872C>T (p.Arg958Ter)
c.1950C>T
n.505C>T
c.2923C>T (p.Arg975Ter)
c.2458C>T (p.Arg820Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539394G>CCA401792448NPC1c.2872C>G (p.Arg958Gly)
c.1950C>G
n.505C>G
c.2923C>G (p.Arg975Gly)
c.2458C>G (p.Arg820Gly)
18g.23539394G=CA2290165731NPC1c.2872C= (p.Arg958=)
c.1950C=
n.505C=
c.2923C= (p.Arg975=)
c.2458C= (p.Arg820=)
18g.23539394G>TCA503322554NPC1c.2872C>A (p.Arg958=)
c.1950C>A
n.505C>A
c.2923C>A (p.Arg975=)
c.2458C>A (p.Arg820=)
18g.23539395A>CCA401792449NPC1c.2871T>G (p.Cys957Trp)
c.1949T>G
n.504T>G
c.2922T>G (p.Cys974Trp)
c.2457T>G (p.Cys819Trp)
18g.23539395A>GCA503322555NPC1c.2871T>C (p.Cys957=)
c.1949T>C
n.504T>C
c.2922T>C (p.Cys974=)
c.2457T>C (p.Cys819=)
18g.23539395A>TCA401792450NPC1c.2871T>A (p.Cys957Ter)
c.1949T>A
n.504T>A
c.2922T>A (p.Cys974Ter)
c.2457T>A (p.Cys819Ter)
 ClinVar
18g.23539396C>ACA401792451NPC1c.2870G>T (p.Cys957Phe)
c.1948G>T
n.503G>T
c.2921G>T (p.Cys974Phe)
c.2456G>T (p.Cys819Phe)
18g.23539396C>GCA401792452NPC1c.2870G>C (p.Cys957Ser)
c.1948G>C
n.503G>C
c.2921G>C (p.Cys974Ser)
c.2456G>C (p.Cys819Ser)
18g.23539396C>TCA401792453NPC1c.2870G>A (p.Cys957Tyr)
c.1948G>A
n.503G>A
c.2921G>A (p.Cys974Tyr)
c.2456G>A (p.Cys819Tyr)
18g.23539397A>CCA401792456NPC1c.2869T>G (p.Cys957Gly)
c.1947T>G
n.502T>G
c.2920T>G (p.Cys974Gly)
c.2455T>G (p.Cys819Gly)
18g.23539397A>GCA401792454NPC1c.2869T>C (p.Cys957Arg)
c.1947T>C
n.502T>C
c.2920T>C (p.Cys974Arg)
c.2455T>C (p.Cys819Arg)
 gnomAD v4
18g.23539397A>TCA401792455NPC1c.2869T>A (p.Cys957Ser)
c.1947T>A
n.502T>A
c.2920T>A (p.Cys974Ser)
c.2455T>A (p.Cys819Ser)
18g.23539398G>ACA503322556NPC1c.2868C>T (p.Cys956=)
c.1946C>T
n.501C>T
c.2919C>T (p.Cys973=)
c.2454C>T (p.Cys818=)
 gnomAD v4
18g.23539398G>CCA401792457NPC1c.2868C>G (p.Cys956Trp)
c.1946C>G
n.501C>G
c.2919C>G (p.Cys973Trp)
c.2454C>G (p.Cys818Trp)
18g.23539398G>TCA401792458NPC1c.2868C>A (p.Cys956Ter)
c.1946C>A
n.501C>A
c.2919C>A (p.Cys973Ter)
c.2454C>A (p.Cys818Ter)
18g.23539399C>ACA401792459NPC1c.2867G>T (p.Cys956Phe)
c.1945G>T
n.500G>T
c.2918G>T (p.Cys973Phe)
c.2453G>T (p.Cys818Phe)
18g.23539399C=CA2290165732NPC1c.2867G= (p.Cys956=)
c.1945G=
n.500G=
c.2918G= (p.Cys973=)
c.2453G= (p.Cys818=)
18g.23539399C>GCA401792460NPC1c.2867G>C (p.Cys956Ser)
c.1945G>C
n.500G>C
c.2918G>C (p.Cys973Ser)
c.2453G>C (p.Cys818Ser)
18g.23539399C>TCA401792461NPC1c.2867G>A (p.Cys956Tyr)
c.1945G>A
n.500G>A
c.2918G>A (p.Cys973Tyr)
c.2453G>A (p.Cys818Tyr)
 dbSNP
18g.23539400A>CCA401792462NPC1c.2866T>G (p.Cys956Gly)
c.1944T>G
n.499T>G
c.2917T>G (p.Cys973Gly)
c.2452T>G (p.Cys818Gly)
18g.23539400A>GCA401792463NPC1c.2866T>C (p.Cys956Arg)
c.1944T>C
n.499T>C
c.2917T>C (p.Cys973Arg)
c.2452T>C (p.Cys818Arg)
18g.23539400A>TCA401792464NPC1c.2866T>A (p.Cys956Ser)
c.1944T>A
n.499T>A
c.2917T>A (p.Cys973Ser)
c.2452T>A (p.Cys818Ser)
18g.23539401A=CA2290165733NPC1c.2865T= (p.Ser955=)
c.1943T=
n.498T=
c.2916T= (p.Ser972=)
c.2451T= (p.Ser817=)
18g.23539401A>CCA503322558NPC1c.2865T>G (p.Ser955=)
c.1943T>G
n.498T>G
c.2916T>G (p.Ser972=)
c.2451T>G (p.Ser817=)
18g.23539401A>GCA297081160NPC1c.2865T>C (p.Ser955=)
c.1943T>C
n.498T>C
c.2916T>C (p.Ser972=)
c.2451T>C (p.Ser817=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23539401A>TCA503322557NPC1c.2865T>A (p.Ser955=)
c.1943T>A
n.498T>A
c.2916T>A (p.Ser972=)
c.2451T>A (p.Ser817=)
18g.23539401_23539404delinsAGACCA2290165734NPC1c.2862_2865delinsGTCT (p.Ser954=)
c.1940_1943delinsGTCT
n.495_498delinsGTCT
c.2913_2916delinsGTCT (p.Ser971=)
c.2448_2451delinsGTCT (p.Ser816=)
18g.23539402G>ACA297081164NPC1c.2864C>T (p.Ser955Phe)
c.1942C>T
n.497C>T
c.2915C>T (p.Ser972Phe)
c.2450C>T (p.Ser817Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23539402G>CCA401792465NPC1c.2864C>G (p.Ser955Cys)
c.1942C>G
n.497C>G
c.2915C>G (p.Ser972Cys)
c.2450C>G (p.Ser817Cys)
18g.23539402G=CA2290165735NPC1c.2864C= (p.Ser955=)
c.1942C=
n.497C=
c.2915C= (p.Ser972=)
c.2450C= (p.Ser817=)
18g.23539402G>TCA401792466NPC1c.2864C>A (p.Ser955Tyr)
c.1942C>A
n.497C>A
c.2915C>A (p.Ser972Tyr)
c.2450C>A (p.Ser817Tyr)
18g.23539405_23539407delCA628677872NPC1c.2862_2864del (p.Ser955del)
c.1940_1942del
n.495_497del
c.2913_2915del (p.Ser972del)
c.2448_2450del (p.Ser817del)
 dbSNP gnomAD v2
18g.23539403A>CCA401792469NPC1c.2863T>G (p.Ser955Ala)
c.1941T>G
n.496T>G
c.2914T>G (p.Ser972Ala)
c.2449T>G (p.Ser817Ala)
18g.23539403A>GCA401792468NPC1c.2863T>C (p.Ser955Pro)
c.1941T>C
n.496T>C
c.2914T>C (p.Ser972Pro)
c.2449T>C (p.Ser817Pro)
18g.23539403A>TCA401792467NPC1c.2863T>A (p.Ser955Thr)
c.1941T>A
n.496T>A
c.2914T>A (p.Ser972Thr)
c.2449T>A (p.Ser817Thr)
18g.23539404C>ACA503322559NPC1c.2862G>T (p.Ser954=)
c.1940G>T
n.495G>T
c.2913G>T (p.Ser971=)
c.2448G>T (p.Ser816=)
18g.23539404C=CA2290165736NPC1c.2862G= (p.Ser954=)
c.1940G=
n.495G=
c.2913G= (p.Ser971=)
c.2448G= (p.Ser816=)
18g.23539404C>GCA503322560NPC1c.2862G>C (p.Ser954=)
c.1940G>C
n.495G>C
c.2913G>C (p.Ser971=)
c.2448G>C (p.Ser816=)
18g.23539404C>TCA220561NPC1c.2862G>A (p.Ser954=)
c.1940G>A
n.495G>A
c.2913G>A (p.Ser971=)
c.2448G>A (p.Ser816=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539405G>ACA297014NPC1c.2861C>T (p.Ser954Leu)
c.1939C>T
n.494C>T
c.2912C>T (p.Ser971Leu)
c.2447C>T (p.Ser816Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539405G>CCA401792470NPC1c.2861C>G (p.Ser954Trp)
c.1939C>G
n.494C>G
c.2912C>G (p.Ser971Trp)
c.2447C>G (p.Ser816Trp)
18g.23539405G=CA2290165737NPC1c.2861C= (p.Ser954=)
c.1939C=
n.494C=
c.2912C= (p.Ser971=)
c.2447C= (p.Ser816=)
18g.23539405G>TCA401792471NPC1c.2861C>A (p.Ser954Ter)
c.1939C>A
n.494C>A
c.2912C>A (p.Ser971Ter)
c.2447C>A (p.Ser816Ter)
 gnomAD v4
18g.23539406A>CCA401792472NPC1c.2860T>G (p.Ser954Ala)
c.1938T>G
n.493T>G
c.2911T>G (p.Ser971Ala)
c.2446T>G (p.Ser816Ala)
18g.23539406A>GCA401792474NPC1c.2860T>C (p.Ser954Pro)
c.1938T>C
n.493T>C
c.2911T>C (p.Ser971Pro)
c.2446T>C (p.Ser816Pro)
18g.23539406A>TCA401792473NPC1c.2860T>A (p.Ser954Thr)
c.1938T>A
n.493T>A
c.2911T>A (p.Ser971Thr)
c.2446T>A (p.Ser816Thr)
18g.23539407C>ACA401792475NPC1c.2859G>T (p.Gln953His)
c.1937G>T
n.492G>T
c.2910G>T (p.Gln970His)
c.2445G>T (p.Gln815His)
18g.23539407C=CA2290165738NPC1c.2859G= (p.Gln953=)
c.1937G=
n.492G=
c.2910G= (p.Gln970=)
c.2445G= (p.Gln815=)
18g.23539407C>GCA401792476NPC1c.2859G>C (p.Gln953His)
c.1937G>C
n.492G>C
c.2910G>C (p.Gln970His)
c.2445G>C (p.Gln815His)
18g.23539407C>TCA503322561NPC1c.2859G>A (p.Gln953=)
c.1937G>A
n.492G>A
c.2910G>A (p.Gln970=)
c.2445G>A (p.Gln815=)
 dbSNP gnomAD v2
18g.23539408T>ACA8912941NPC1c.2858A>T (p.Gln953Leu)
c.1936A>T
n.491A>T
c.2909A>T (p.Gln970Leu)
c.2444A>T (p.Gln815Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539408T>CCA401792477NPC1c.2858A>G (p.Gln953Arg)
c.1936A>G
n.491A>G
c.2909A>G (p.Gln970Arg)
c.2444A>G (p.Gln815Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23539408T>GCA401792478NPC1c.2858A>C (p.Gln953Pro)
c.1936A>C
n.491A>C
c.2909A>C (p.Gln970Pro)
c.2444A>C (p.Gln815Pro)
18g.23539408T=CA2290165739NPC1c.2858A= (p.Gln953=)
c.1936A=
n.491A=
c.2909A= (p.Gln970=)
c.2444A= (p.Gln815=)
18g.23539410_23539411delCA2580613286NPC1c.2857_2858del (p.Gln953ValfsTer11)
c.1935_1936del
n.490_491del
c.2908_2909del (p.Gln970ValfsTer11)
c.2443_2444del (p.Gln815ValfsTer11)
 ClinVar dbSNP
18g.23539409G>ACA401792479NPC1c.2857C>T (p.Gln953Ter)
c.1935C>T
n.490C>T
c.2908C>T (p.Gln970Ter)
c.2443C>T (p.Gln815Ter)
18g.23539409G>CCA401792480NPC1c.2857C>G (p.Gln953Glu)
c.1935C>G
n.490C>G
c.2908C>G (p.Gln970Glu)
c.2443C>G (p.Gln815Glu)
18g.23539409G>TCA401792481NPC1c.2857C>A (p.Gln953Lys)
c.1935C>A
n.490C>A
c.2908C>A (p.Gln970Lys)
c.2443C>A (p.Gln815Lys)
18g.23539410T>ACA503322562NPC1c.2856A>T (p.Pro952=)
c.1934A>T
n.489A>T
c.2907A>T (p.Pro969=)
c.2442A>T (p.Pro814=)
18g.23539410T>CCA503322563NPC1c.2856A>G (p.Pro952=)
c.1934A>G
n.489A>G
c.2907A>G (p.Pro969=)
c.2442A>G (p.Pro814=)
18g.23539410T>GCA503322564NPC1c.2856A>C (p.Pro952=)
c.1934A>C
n.489A>C
c.2907A>C (p.Pro969=)
c.2442A>C (p.Pro814=)
18g.23539411G>ACA401792482NPC1c.2855C>T (p.Pro952Leu)
c.1933C>T
n.488C>T
c.2906C>T (p.Pro969Leu)
c.2441C>T (p.Pro814Leu)
18g.23539411G>CCA401792483NPC1c.2855C>G (p.Pro952Arg)
c.1933C>G
n.488C>G
c.2906C>G (p.Pro969Arg)
c.2441C>G (p.Pro814Arg)
 gnomAD v4
18g.23539411G>TCA401792484NPC1c.2855C>A (p.Pro952Gln)
c.1933C>A
n.488C>A
c.2906C>A (p.Pro969Gln)
c.2441C>A (p.Pro814Gln)
18g.23539412G>ACA401792485NPC1c.2854C>T (p.Pro952Ser)
c.1932C>T
n.487C>T
c.2905C>T (p.Pro969Ser)
c.2440C>T (p.Pro814Ser)
18g.23539412G>CCA401792486NPC1c.2854C>G (p.Pro952Ala)
c.1932C>G
n.487C>G
c.2905C>G (p.Pro969Ala)
c.2440C>G (p.Pro814Ala)
18g.23539412G>TCA401792487NPC1c.2854C>A (p.Pro952Thr)
c.1932C>A
n.487C>A
c.2905C>A (p.Pro969Thr)
c.2440C>A (p.Pro814Thr)
18g.23539413C>ACA401792489NPC1c.2853G>T (p.Lys951Asn)
c.1931G>T
n.486G>T
c.2904G>T (p.Lys968Asn)
c.2439G>T (p.Lys813Asn)
18g.23539413C>GCA401792488NPC1c.2853G>C (p.Lys951Asn)
c.1931G>C
n.486G>C
c.2904G>C (p.Lys968Asn)
c.2439G>C (p.Lys813Asn)
18g.23539413C>TCA503322565NPC1c.2853G>A (p.Lys951=)
c.1931G>A
n.486G>A
c.2904G>A (p.Lys968=)
c.2439G>A (p.Lys813=)
 COSMIC
18g.23539414T>ACA401792490NPC1c.2852A>T (p.Lys951Met)
c.1930A>T
n.485A>T
c.2903A>T (p.Lys968Met)
c.2438A>T (p.Lys813Met)
18g.23539414T>CCA401792491NPC1c.2852A>G (p.Lys951Arg)
c.1930A>G
n.485A>G
c.2903A>G (p.Lys968Arg)
c.2438A>G (p.Lys813Arg)
18g.23539414T>GCA401792492NPC1c.2852A>C (p.Lys951Thr)
c.1930A>C
n.485A>C
c.2903A>C (p.Lys968Thr)
c.2438A>C (p.Lys813Thr)
18g.23539415T>ACA401792493NPC1c.2851A>T (p.Lys951Ter)
c.1929A>T
n.484A>T
c.2902A>T (p.Lys968Ter)
c.2437A>T (p.Lys813Ter)
18g.23539415T>CCA8912942NPC1c.2851A>G (p.Lys951Glu)
c.1929A>G
n.484A>G
c.2902A>G (p.Lys968Glu)
c.2437A>G (p.Lys813Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539415T>GCA401792494NPC1c.2851A>C (p.Lys951Gln)
c.1929A>C
n.484A>C
c.2902A>C (p.Lys968Gln)
c.2437A>C (p.Lys813Gln)
 ClinVar dbSNP
18g.23539415T=CA2290165740NPC1c.2851A= (p.Lys951=)
c.1929A=
n.484A=
c.2902A= (p.Lys968=)
c.2437A= (p.Lys813=)
18g.23539416C>ACA503322566NPC1c.2850G>T (p.Val950=)
c.1928G>T
n.483G>T
c.2901G>T (p.Val967=)
c.2436G>T (p.Val812=)
18g.23539416C=CA2290165741NPC1c.2850G= (p.Val950=)
c.1928G=
n.483G=
c.2901G= (p.Val967=)
c.2436G= (p.Val812=)
18g.23539416C>GCA503322567NPC1c.2850G>C (p.Val950=)
c.1928G>C
n.483G>C
c.2901G>C (p.Val967=)
c.2436G>C (p.Val812=)
18g.23539416C>TCA8912943NPC1c.2850G>A (p.Val950=)
c.1928G>A
n.483G>A
c.2901G>A (p.Val967=)
c.2436G>A (p.Val812=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539417A=CA2290165742NPC1c.2849T= (p.Val950=)
c.1927T=
n.482T=
c.2900T= (p.Val967=)
c.2435T= (p.Val812=)
18g.23539417A>CCA16043142NPC1c.2849T>G (p.Val950Gly)
c.1927T>G
n.482T>G
c.2900T>G (p.Val967Gly)
c.2435T>G (p.Val812Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23539417A>GCA401792495NPC1c.2849T>C (p.Val950Ala)
c.1927T>C
n.482T>C
c.2900T>C (p.Val967Ala)
c.2435T>C (p.Val812Ala)
 dbSNP gnomAD v3 gnomAD v4
18g.23539417A>TCA401792496NPC1c.2849T>A (p.Val950Glu)
c.1927T>A
n.482T>A
c.2900T>A (p.Val967Glu)
c.2435T>A (p.Val812Glu)
18g.23539418C>ACA401792497NPC1c.2848G>T (p.Val950Leu)
c.1926G>T
n.481G>T
c.2899G>T (p.Val967Leu)
c.2434G>T (p.Val812Leu)
18g.23539418C=CA2290165743NPC1c.2848G= (p.Val950=)
c.1926G=
n.481G=
c.2899G= (p.Val967=)
c.2434G= (p.Val812=)
18g.23539418C>GCA401792498NPC1c.2848G>C (p.Val950Leu)
c.1926G>C
n.481G>C
c.2899G>C (p.Val967Leu)
c.2434G>C (p.Val812Leu)
18g.23539418C>TCA281534NPC1c.2848G>A (p.Val950Met)
c.1926G>A
n.481G>A
c.2899G>A (p.Val967Met)
c.2434G>A (p.Val812Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539419C>ACA401792499NPC1c.2847G>T (p.Trp949Cys)
c.1925G>T
n.480G>T
c.2898G>T (p.Trp966Cys)
c.2433G>T (p.Trp811Cys)
18g.23539419C>GCA401792501NPC1c.2847G>C (p.Trp949Cys)
c.1925G>C
n.480G>C
c.2898G>C (p.Trp966Cys)
c.2433G>C (p.Trp811Cys)
18g.23539419C>TCA401792500NPC1c.2847G>A (p.Trp949Ter)
c.1925G>A
n.480G>A
c.2898G>A (p.Trp966Ter)
c.2433G>A (p.Trp811Ter)
 ClinVar dbSNP
18g.23539420C>ACA401792502NPC1c.2846G>T (p.Trp949Leu)
c.1924G>T
n.479G>T
c.2897G>T (p.Trp966Leu)
c.2432G>T (p.Trp811Leu)
18g.23539420C>GCA401792503NPC1c.2846G>C (p.Trp949Ser)
c.1924G>C
n.479G>C
c.2897G>C (p.Trp966Ser)
c.2432G>C (p.Trp811Ser)
18g.23539420C>TCA401792504NPC1c.2846G>A (p.Trp949Ter)
c.1924G>A
n.479G>A
c.2897G>A (p.Trp966Ter)
c.2432G>A (p.Trp811Ter)
18g.23539421A>CCA401792505NPC1c.2845T>G (p.Trp949Gly)
c.1923T>G
n.478T>G
c.2896T>G (p.Trp966Gly)
c.2431T>G (p.Trp811Gly)
18g.23539421A>GCA401792506NPC1c.2845T>C (p.Trp949Arg)
c.1923T>C
n.478T>C
c.2896T>C (p.Trp966Arg)
c.2431T>C (p.Trp811Arg)
18g.23539421A>TCA401792507NPC1c.2845T>A (p.Trp949Arg)
c.1923T>A
n.478T>A
c.2896T>A (p.Trp966Arg)
c.2431T>A (p.Trp811Arg)
18g.23539422G>ACA503322568NPC1c.2844C>T (p.Asp948=)
c.1922C>T
n.477C>T
c.2895C>T (p.Asp965=)
c.2430C>T (p.Asp810=)
 ClinVar
18g.23539422G>CCA401792508NPC1c.2844C>G (p.Asp948Glu)
c.1922C>G
n.477C>G
c.2895C>G (p.Asp965Glu)
c.2430C>G (p.Asp810Glu)
 ClinVar
18g.23539422G>TCA401792509NPC1c.2844C>A (p.Asp948Glu)
c.1922C>A
n.477C>A
c.2895C>A (p.Asp965Glu)
c.2430C>A (p.Asp810Glu)
18g.23539423T>ACA401792510NPC1c.2843A>T (p.Asp948Val)
c.1921A>T
n.476A>T
c.2894A>T (p.Asp965Val)
c.2429A>T (p.Asp810Val)
18g.23539423T>CCA401792511NPC1c.2843A>G (p.Asp948Gly)
c.1921A>G
n.476A>G
c.2894A>G (p.Asp965Gly)
c.2429A>G (p.Asp810Gly)
18g.23539423T>GCA401792512NPC1c.2843A>C (p.Asp948Ala)
c.1921A>C
n.476A>C
c.2894A>C (p.Asp965Ala)
c.2429A>C (p.Asp810Ala)
18g.23539424C>ACA401792515NPC1c.2842G>T (p.Asp948Tyr)
c.1920G>T
n.475G>T
c.2893G>T (p.Asp965Tyr)
c.2428G>T (p.Asp810Tyr)
 gnomAD v4
18g.23539424C=CA2290165744NPC1c.2842G= (p.Asp948=)
c.1920G=
n.475G=
c.2893G= (p.Asp965=)
c.2428G= (p.Asp810=)
18g.23539424C>GCA401792514NPC1c.2842G>C (p.Asp948His)
c.1920G>C
n.475G>C
c.2893G>C (p.Asp965His)
c.2428G>C (p.Asp810His)
 gnomAD v4
18g.23539424C>TCA401792513NPC1c.2842G>A (p.Asp948Asn)
c.1920G>A
n.475G>A
c.2893G>A (p.Asp965Asn)
c.2428G>A (p.Asp810Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23539425G>ACA8912944NPC1c.2841C>T (p.Phe947=)
c.1919C>T
n.474C>T
c.2892C>T (p.Phe964=)
c.2427C>T (p.Phe809=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23539425G>CCA401792516NPC1c.2841C>G (p.Phe947Leu)
c.1919C>G
n.474C>G
c.2892C>G (p.Phe964Leu)
c.2427C>G (p.Phe809Leu)
 gnomAD v4
18g.23539425G=CA2290165745NPC1c.2841C= (p.Phe947=)
c.1919C=
n.474C=
c.2892C= (p.Phe964=)
c.2427C= (p.Phe809=)
18g.23539425G>TCA401792517NPC1c.2841C>A (p.Phe947Leu)
c.1919C>A
n.474C>A
c.2892C>A (p.Phe964Leu)
c.2427C>A (p.Phe809Leu)
18g.23539426A=CA2290165746NPC1c.2840T= (p.Phe947=)
c.1918T=
n.473T=
c.2891T= (p.Phe964=)
c.2426T= (p.Phe809=)
18g.23539426A>CCA401792518NPC1c.2840T>G (p.Phe947Cys)
c.1918T>G
n.473T>G
c.2891T>G (p.Phe964Cys)
c.2426T>G (p.Phe809Cys)
18g.23539426A>GCA401792519NPC1c.2840T>C (p.Phe947Ser)
c.1918T>C
n.473T>C
c.2891T>C (p.Phe964Ser)
c.2426T>C (p.Phe809Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.23539426A>TCA401792520NPC1c.2840T>A (p.Phe947Tyr)
c.1918T>A
n.473T>A
c.2891T>A (p.Phe964Tyr)
c.2426T>A (p.Phe809Tyr)
18g.23539427A>CCA401792521NPC1c.2839T>G (p.Phe947Val)
c.1917T>G
n.472T>G
c.2890T>G (p.Phe964Val)
c.2425T>G (p.Phe809Val)
18g.23539427A>GCA401792522NPC1c.2839T>C (p.Phe947Leu)
c.1917T>C
n.472T>C
c.2890T>C (p.Phe964Leu)
c.2425T>C (p.Phe809Leu)
18g.23539427A>TCA401792523NPC1c.2839T>A (p.Phe947Ile)
c.1917T>A
n.472T>A
c.2890T>A (p.Phe964Ile)
c.2425T>A (p.Phe809Ile)
18g.23539428A>CCA401792524NPC1c.2838T>G (p.Tyr946Ter)
c.1916T>G
n.471T>G
c.2889T>G (p.Tyr963Ter)
c.2424T>G (p.Tyr808Ter)
18g.23539428A>GCA503322569NPC1c.2838T>C (p.Tyr946=)
c.1916T>C
n.471T>C
c.2889T>C (p.Tyr963=)
c.2424T>C (p.Tyr808=)
18g.23539428A>TCA401792525NPC1c.2838T>A (p.Tyr946Ter)
c.1916T>A
n.471T>A
c.2889T>A (p.Tyr963Ter)
c.2424T>A (p.Tyr808Ter)
18g.23539429T>ACA401792528NPC1c.2837A>T (p.Tyr946Phe)
c.1915A>T
n.470A>T
c.2888A>T (p.Tyr963Phe)
c.2423A>T (p.Tyr808Phe)
18g.23539429T>CCA401792527NPC1c.2837A>G (p.Tyr946Cys)
c.1915A>G
n.470A>G
c.2888A>G (p.Tyr963Cys)
c.2423A>G (p.Tyr808Cys)
18g.23539429T>GCA401792526NPC1c.2837A>C (p.Tyr946Ser)
c.1915A>C
n.470A>C
c.2888A>C (p.Tyr963Ser)
c.2423A>C (p.Tyr808Ser)
18g.23539430A>CCA401792529NPC1c.2836T>G (p.Tyr946Asp)
c.1914T>G
n.469T>G
c.2887T>G (p.Tyr963Asp)
c.2422T>G (p.Tyr808Asp)
18g.23539430A>GCA401792531NPC1c.2836T>C (p.Tyr946His)
c.1914T>C
n.469T>C
c.2887T>C (p.Tyr963His)
c.2422T>C (p.Tyr808His)
 gnomAD v4
18g.23539430A>TCA401792530NPC1c.2836T>A (p.Tyr946Asn)
c.1914T>A
n.469T>A
c.2887T>A (p.Tyr963Asn)
c.2422T>A (p.Tyr808Asn)
 ClinVar
18g.23539431A>CCA401792532NPC1c.2835T>G (p.Asp945Glu)
c.1913T>G
n.468T>G
c.2886T>G (p.Asp962Glu)
c.2421T>G (p.Asp807Glu)
18g.23539431A>GCA503322570NPC1c.2835T>C (p.Asp945=)
c.1913T>C
n.468T>C
c.2886T>C (p.Asp962=)
c.2421T>C (p.Asp807=)
 ClinVar
18g.23539431A>TCA401792533NPC1c.2835T>A (p.Asp945Glu)
c.1913T>A
n.468T>A
c.2886T>A (p.Asp962Glu)
c.2421T>A (p.Asp807Glu)
18g.23539432T>ACA401792534NPC1c.2834A>T (p.Asp945Val)
c.1912A>T
n.467A>T
c.2885A>T (p.Asp962Val)
c.2420A>T (p.Asp807Val)
18g.23539432T>CCA401792535NPC1c.2834A>G (p.Asp945Gly)
c.1912A>G
n.467A>G
c.2885A>G (p.Asp962Gly)
c.2420A>G (p.Asp807Gly)
18g.23539432T>GCA401792536NPC1c.2834A>C (p.Asp945Ala)
c.1912A>C
n.467A>C
c.2885A>C (p.Asp962Ala)
c.2420A>C (p.Asp807Ala)
18g.23539433C>ACA401792537NPC1c.2833G>T (p.Asp945Tyr)
c.1911G>T
n.466G>T
c.2884G>T (p.Asp962Tyr)
c.2419G>T (p.Asp807Tyr)
 gnomAD v4 COSMIC
18g.23539433C=CA2290165747NPC1c.2833G= (p.Asp945=)
c.1911G=
n.466G=
c.2884G= (p.Asp962=)
c.2419G= (p.Asp807=)
18g.23539433C>GCA401792538NPC1c.2833G>C (p.Asp945His)
c.1911G>C
n.466G>C
c.2884G>C (p.Asp962His)
c.2419G>C (p.Asp807His)
18g.23539433C>TCA401792539NPC1c.2833G>A (p.Asp945Asn)
c.1911G>A
n.466G>A
c.2884G>A (p.Asp962Asn)
c.2419G>A (p.Asp807Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539434G>ACA8912945NPC1c.2832C>T (p.Asp944=)
c.1910C>T
n.465C>T
c.2883C>T (p.Asp961=)
c.2418C>T (p.Asp806=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539434G>CCA401792540NPC1c.2832C>G (p.Asp944Glu)
c.1910C>G
n.465C>G
c.2883C>G (p.Asp961Glu)
c.2418C>G (p.Asp806Glu)
18g.23539434G=CA2290165748NPC1c.2832C= (p.Asp944=)
c.1910C=
n.465C=
c.2883C= (p.Asp961=)
c.2418C= (p.Asp806=)
18g.23539434G>TCA401792541NPC1c.2832C>A (p.Asp944Glu)
c.1910C>A
n.465C>A
c.2883C>A (p.Asp961Glu)
c.2418C>A (p.Asp806Glu)
18g.23539435T>ACA401792544NPC1c.2831A>T (p.Asp944Val)
c.1909A>T
n.464A>T
c.2882A>T (p.Asp961Val)
c.2417A>T (p.Asp806Val)
18g.23539435T>CCA401792542NPC1c.2831A>G (p.Asp944Gly)
c.1909A>G
n.464A>G
c.2882A>G (p.Asp961Gly)
c.2417A>G (p.Asp806Gly)
18g.23539435T>GCA401792543NPC1c.2831A>C (p.Asp944Ala)
c.1909A>C
n.464A>C
c.2882A>C (p.Asp961Ala)
c.2417A>C (p.Asp806Ala)
18g.23539436C>ACA401792545NPC1c.2830G>T (p.Asp944Tyr)
c.1908G>T
n.463G>T
c.2881G>T (p.Asp961Tyr)
c.2416G>T (p.Asp806Tyr)
18g.23539436C=CA2290165749NPC1c.2830G= (p.Asp944=)
c.1908G=
n.463G=
c.2881G= (p.Asp961=)
c.2416G= (p.Asp806=)
18g.23539436C>GCA401792546NPC1c.2830G>C (p.Asp944His)
c.1908G>C
n.463G>C
c.2881G>C (p.Asp961His)
c.2416G>C (p.Asp806His)
18g.23539436C>TCA8912946NPC1c.2830G>A (p.Asp944Asn)
c.1908G>A
n.463G>A
c.2881G>A (p.Asp961Asn)
c.2416G>A (p.Asp806Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539437G>ACA503322571NPC1c.2829C>T (p.Ile943=)
c.1907C>T
n.462C>T
c.2880C>T (p.Ile960=)
c.2415C>T (p.Ile805=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539437G>CCA401792547NPC1c.2829C>G (p.Ile943Met)
c.1907C>G
n.462C>G
c.2880C>G (p.Ile960Met)
c.2415C>G (p.Ile805Met)
 gnomAD v4
18g.23539437G=CA2290165750NPC1c.2829C= (p.Ile943=)
c.1907C=
n.462C=
c.2880C= (p.Ile960=)
c.2415C= (p.Ile805=)
18g.23539437G>TCA503322572NPC1c.2829C>A (p.Ile943=)
c.1907C>A
n.462C>A
c.2880C>A (p.Ile960=)
c.2415C>A (p.Ile805=)
18g.23539438A>CCA401792548NPC1c.2828T>G (p.Ile943Ser)
c.1906T>G
n.461T>G
c.2879T>G (p.Ile960Ser)
c.2414T>G (p.Ile805Ser)
18g.23539438A>GCA401792549NPC1c.2828T>C (p.Ile943Thr)
c.1906T>C
n.461T>C
c.2879T>C (p.Ile960Thr)
c.2414T>C (p.Ile805Thr)
18g.23539438A>TCA401792550NPC1c.2828T>A (p.Ile943Asn)
c.1906T>A
n.461T>A
c.2879T>A (p.Ile960Asn)
c.2414T>A (p.Ile805Asn)
18g.23539439T>ACA401792551NPC1c.2827A>T (p.Ile943Phe)
c.1905A>T
n.460A>T
c.2878A>T (p.Ile960Phe)
c.2413A>T (p.Ile805Phe)
18g.23539439T>CCA401792552NPC1c.2827A>G (p.Ile943Val)
c.1905A>G
n.460A>G
c.2878A>G (p.Ile960Val)
c.2413A>G (p.Ile805Val)
 gnomAD v4
18g.23539439T>GCA401792553NPC1c.2827A>C (p.Ile943Leu)
c.1905A>C
n.460A>C
c.2878A>C (p.Ile960Leu)
c.2413A>C (p.Ile805Leu)
18g.23539440C>ACA401792555NPC1c.2826G>T (p.Trp942Cys)
c.1904G>T
n.459G>T
c.2877G>T (p.Trp959Cys)
c.2412G>T (p.Trp804Cys)
 gnomAD v4
18g.23539440C>GCA401792556NPC1c.2826G>C (p.Trp942Cys)
c.1904G>C
n.459G>C
c.2877G>C (p.Trp959Cys)
c.2412G>C (p.Trp804Cys)
 gnomAD v4
18g.23539440C>TCA401792554NPC1c.2826G>A (p.Trp942Ter)
c.1904G>A
n.459G>A
c.2877G>A (p.Trp959Ter)
c.2412G>A (p.Trp804Ter)
18g.23539441C>ACA401792557NPC1c.2825G>T (p.Trp942Leu)
c.1903G>T
n.458G>T
c.2876G>T (p.Trp959Leu)
c.2411G>T (p.Trp804Leu)
18g.23539441C=CA2290165751NPC1c.2825G= (p.Trp942=)
c.1903G=
n.458G=
c.2876G= (p.Trp959=)
c.2411G= (p.Trp804=)
18g.23539441C>GCA401792558NPC1c.2825G>C (p.Trp942Ser)
c.1903G>C
n.458G>C
c.2876G>C (p.Trp959Ser)
c.2411G>C (p.Trp804Ser)
18g.23539441C>TCA401792559NPC1c.2825G>A (p.Trp942Ter)
c.1903G>A
n.458G>A
c.2876G>A (p.Trp959Ter)
c.2411G>A (p.Trp804Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539442A>CCA401792560NPC1c.2824T>G (p.Trp942Gly)
c.1902T>G
n.457T>G
c.2875T>G (p.Trp959Gly)
c.2410T>G (p.Trp804Gly)
18g.23539442A>GCA401792561NPC1c.2824T>C (p.Trp942Arg)
c.1902T>C
n.457T>C
c.2875T>C (p.Trp959Arg)
c.2410T>C (p.Trp804Arg)
18g.23539442A>TCA401792562NPC1c.2824T>A (p.Trp942Arg)
c.1902T>A
n.457T>A
c.2875T>A (p.Trp959Arg)
c.2410T>A (p.Trp804Arg)
18g.23539443G>ACA503322574NPC1c.2823C>T (p.Ser941=)
c.1901C>T
n.456C>T
c.2874C>T (p.Ser958=)
c.2409C>T (p.Ser803=)
 dbSNP gnomAD v3 gnomAD v4
18g.23539443G>CCA503322575NPC1c.2823C>G (p.Ser941=)
c.1901C>G
n.456C>G
c.2874C>G (p.Ser958=)
c.2409C>G (p.Ser803=)
 dbSNP
18g.23539443G=CA2290165752NPC1c.2823C= (p.Ser941=)
c.1901C=
n.456C=
c.2874C= (p.Ser958=)
c.2409C= (p.Ser803=)
18g.23539443G>TCA503322573NPC1c.2823C>A (p.Ser941=)
c.1901C>A
n.456C>A
c.2874C>A (p.Ser958=)
c.2409C>A (p.Ser803=)
18g.23539444delCA2499225061NPC1c.2823del (p.Trp942GlyfsTer9)
c.1901del
n.456del
c.2874del (p.Trp959GlyfsTer9)
c.2409del (p.Trp804GlyfsTer9)
 ClinVar dbSNP
18g.23539444G>ACA401792563NPC1c.2822C>T (p.Ser941Phe)
c.1900C>T
n.455C>T
c.2873C>T (p.Ser958Phe)
c.2408C>T (p.Ser803Phe)
18g.23539444G>CCA401792564NPC1c.2822C>G (p.Ser941Cys)
c.1900C>G
n.455C>G
c.2873C>G (p.Ser958Cys)
c.2408C>G (p.Ser803Cys)
18g.23539444G>TCA401792565NPC1c.2822C>A (p.Ser941Tyr)
c.1900C>A
n.455C>A
c.2873C>A (p.Ser958Tyr)
c.2408C>A (p.Ser803Tyr)
18g.23539445A>CCA401792566NPC1c.2821T>G (p.Ser941Ala)
c.1899T>G
n.454T>G
c.2872T>G (p.Ser958Ala)
c.2407T>G (p.Ser803Ala)
18g.23539445A>GCA401792567NPC1c.2821T>C (p.Ser941Pro)
c.1899T>C
n.454T>C
c.2872T>C (p.Ser958Pro)
c.2407T>C (p.Ser803Pro)
18g.23539445A>TCA401792568NPC1c.2821T>A (p.Ser941Thr)
c.1899T>A
n.454T>A
c.2872T>A (p.Ser958Thr)
c.2407T>A (p.Ser803Thr)
18g.23539446C>ACA503322576NPC1c.2820G>T (p.Ser940=)
c.1898G>T
n.453G>T
c.2871G>T (p.Ser957=)
c.2406G>T (p.Ser802=)
18g.23539446C=CA2290165753NPC1c.2820G= (p.Ser940=)
c.1898G=
n.453G=
c.2871G= (p.Ser957=)
c.2406G= (p.Ser802=)
18g.23539446C>GCA503322577NPC1c.2820G>C (p.Ser940=)
c.1898G>C
n.453G>C
c.2871G>C (p.Ser957=)
c.2406G>C (p.Ser802=)
18g.23539446C>TCA8912947NPC1c.2820G>A (p.Ser940=)
c.1898G>A
n.453G>A
c.2871G>A (p.Ser957=)
c.2406G>A (p.Ser802=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539447G>ACA273881NPC1c.2819C>T (p.Ser940Leu)
c.1897C>T
n.452C>T
c.2870C>T (p.Ser957Leu)
c.2405C>T (p.Ser802Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539447G>CCA401792570NPC1c.2819C>G (p.Ser940Trp)
c.1897C>G
n.452C>G
c.2870C>G (p.Ser957Trp)
c.2405C>G (p.Ser802Trp)
18g.23539447G=CA2290165754NPC1c.2819C= (p.Ser940=)
c.1897C=
n.452C=
c.2870C= (p.Ser957=)
c.2405C= (p.Ser802=)
18g.23539447G>TCA401792569NPC1c.2819C>A (p.Ser940Ter)
c.1897C>A
n.452C>A
c.2870C>A (p.Ser957Ter)
c.2405C>A (p.Ser802Ter)
18g.23539448A>CCA401792571NPC1c.2818T>G (p.Ser940Ala)
c.1896T>G
n.451T>G
c.2869T>G (p.Ser957Ala)
c.2404T>G (p.Ser802Ala)
18g.23539448A>GCA401792572NPC1c.2818T>C (p.Ser940Pro)
c.1896T>C
n.451T>C
c.2869T>C (p.Ser957Pro)
c.2404T>C (p.Ser802Pro)
 ClinVar
18g.23539448A>TCA401792573NPC1c.2818T>A (p.Ser940Thr)
c.1896T>A
n.451T>A
c.2869T>A (p.Ser957Thr)
c.2404T>A (p.Ser802Thr)
18g.23539449G>ACA297081193NPC1c.2817C>T (p.Pro939=)
c.1895C>T
n.450C>T
c.2868C>T (p.Pro956=)
c.2403C>T (p.Pro801=)
 dbSNP
18g.23539449G>CCA8912948NPC1c.2817C>G (p.Pro939=)
c.1895C>G
n.450C>G
c.2868C>G (p.Pro956=)
c.2403C>G (p.Pro801=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539449G=CA2290165755NPC1c.2817C= (p.Pro939=)
c.1895C=
n.450C=
c.2868C= (p.Pro956=)
c.2403C= (p.Pro801=)
18g.23539449G>TCA503322578NPC1c.2817C>A (p.Pro939=)
c.1895C>A
n.450C>A
c.2868C>A (p.Pro956=)
c.2403C>A (p.Pro801=)
 gnomAD v4
18g.23539453delCA2641273127NPC1c.2817del (p.Ser940ArgfsTer11)
c.1895del
n.450del
c.2868del (p.Ser957ArgfsTer11)
c.2403del (p.Ser802ArgfsTer11)
 gnomAD v4
18g.23539450G>ACA401792574NPC1c.2816C>T (p.Pro939Leu)
c.1894C>T
n.449C>T
c.2867C>T (p.Pro956Leu)
c.2402C>T (p.Pro801Leu)
18g.23539450G>CCA401792575NPC1c.2816C>G (p.Pro939Arg)
c.1894C>G
n.449C>G
c.2867C>G (p.Pro956Arg)
c.2402C>G (p.Pro801Arg)
18g.23539450G>TCA401792576NPC1c.2816C>A (p.Pro939His)
c.1894C>A
n.449C>A
c.2867C>A (p.Pro956His)
c.2402C>A (p.Pro801His)
18g.23539451G>ACA401792577NPC1c.2815C>T (p.Pro939Ser)
c.1893C>T
n.448C>T
c.2866C>T (p.Pro956Ser)
c.2401C>T (p.Pro801Ser)
 gnomAD v4
18g.23539451G>CCA8912949NPC1c.2815C>G (p.Pro939Ala)
c.1893C>G
n.448C>G
c.2866C>G (p.Pro956Ala)
c.2401C>G (p.Pro801Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539451G=CA2290165756NPC1c.2815C= (p.Pro939=)
c.1893C=
n.448C=
c.2866C= (p.Pro956=)
c.2401C= (p.Pro801=)
18g.23539451G>TCA401792578NPC1c.2815C>A (p.Pro939Thr)
c.1893C>A
n.448C>A
c.2866C>A (p.Pro956Thr)
c.2401C>A (p.Pro801Thr)
18g.23539452G>ACA503322579NPC1c.2814C>T (p.Ala938=)
c.1892C>T
n.447C>T
c.2865C>T (p.Ala955=)
c.2400C>T (p.Ala800=)
18g.23539452G>CCA503322580NPC1c.2814C>G (p.Ala938=)
c.1892C>G
n.447C>G
c.2865C>G (p.Ala955=)
c.2400C>G (p.Ala800=)
18g.23539452G>TCA503322581NPC1c.2814C>A (p.Ala938=)
c.1892C>A
n.447C>A
c.2865C>A (p.Ala955=)
c.2400C>A (p.Ala800=)
18g.23539453G>ACA401792579NPC1c.2813C>T (p.Ala938Val)
c.1891C>T
n.446C>T
c.2864C>T (p.Ala955Val)
c.2399C>T (p.Ala800Val)
18g.23539453G>CCA401792580NPC1c.2813C>G (p.Ala938Gly)
c.1891C>G
n.446C>G
c.2864C>G (p.Ala955Gly)
c.2399C>G (p.Ala800Gly)
18g.23539453G>TCA401792581NPC1c.2813C>A (p.Ala938Asp)
c.1891C>A
n.446C>A
c.2864C>A (p.Ala955Asp)
c.2399C>A (p.Ala800Asp)
18g.23539454C>ACA401792582NPC1c.2812G>T (p.Ala938Ser)
c.1890G>T
n.445G>T
c.2863G>T (p.Ala955Ser)
c.2398G>T (p.Ala800Ser)
18g.23539454C=CA2290165757NPC1c.2812G= (p.Ala938=)
c.1890G=
n.445G=
c.2863G= (p.Ala955=)
c.2398G= (p.Ala800=)
18g.23539454C>GCA401792583NPC1c.2812G>C (p.Ala938Pro)
c.1890G>C
n.445G>C
c.2863G>C (p.Ala955Pro)
c.2398G>C (p.Ala800Pro)
18g.23539454C>TCA8912950NPC1c.2812G>A (p.Ala938Thr)
c.1890G>A
n.445G>A
c.2863G>A (p.Ala955Thr)
c.2398G>A (p.Ala800Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539455G>ACA8912951NPC1c.2811C>T (p.Phe937=)
c.1889C>T
n.444C>T
c.2862C>T (p.Phe954=)
c.2397C>T (p.Phe799=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23539455G>CCA401792584NPC1c.2811C>G (p.Phe937Leu)
c.1889C>G
n.444C>G
c.2862C>G (p.Phe954Leu)
c.2397C>G (p.Phe799Leu)
18g.23539455G=CA2290165758NPC1c.2811C= (p.Phe937=)
c.1889C=
n.444C=
c.2862C= (p.Phe954=)
c.2397C= (p.Phe799=)
18g.23539455G>TCA401792585NPC1c.2811C>A (p.Phe937Leu)
c.1889C>A
n.444C>A
c.2862C>A (p.Phe954Leu)
c.2397C>A (p.Phe799Leu)
 dbSNP
18g.23539456A>CCA401792586NPC1c.2810T>G (p.Phe937Cys)
c.1888T>G
n.443T>G
c.2861T>G (p.Phe954Cys)
c.2396T>G (p.Phe799Cys)
18g.23539456A>GCA401792587NPC1c.2810T>C (p.Phe937Ser)
c.1888T>C
n.443T>C
c.2861T>C (p.Phe954Ser)
c.2396T>C (p.Phe799Ser)
18g.23539456A>TCA401792588NPC1c.2810T>A (p.Phe937Tyr)
c.1888T>A
n.443T>A
c.2861T>A (p.Phe954Tyr)
c.2396T>A (p.Phe799Tyr)
18g.23539457A>CCA401792589NPC1c.2809T>G (p.Phe937Val)
c.1887T>G
n.442T>G
c.2860T>G (p.Phe954Val)
c.2395T>G (p.Phe799Val)
18g.23539457A>GCA401792590NPC1c.2809T>C (p.Phe937Leu)
c.1887T>C
n.442T>C
c.2860T>C (p.Phe954Leu)
c.2395T>C (p.Phe799Leu)
18g.23539457A>TCA401792591NPC1c.2809T>A (p.Phe937Ile)
c.1887T>A
n.442T>A
c.2860T>A (p.Phe954Ile)
c.2395T>A (p.Phe799Ile)
18g.23539458G>ACA503322582NPC1c.2808C>T (p.Gly936=)
c.1886C>T
n.441C>T
c.2859C>T (p.Gly953=)
c.2394C>T (p.Gly798=)
 ClinVar dbSNP
18g.23539458G>CCA503322583NPC1c.2808C>G (p.Gly936=)
c.1886C>G
n.441C>G
c.2859C>G (p.Gly953=)
c.2394C>G (p.Gly798=)
18g.23539458G=CA2290165759NPC1c.2808C= (p.Gly936=)
c.1886C=
n.441C=
c.2859C= (p.Gly953=)
c.2394C= (p.Gly798=)
18g.23539458G>TCA503322584NPC1c.2808C>A (p.Gly936=)
c.1886C>A
n.441C>A
c.2859C>A (p.Gly953=)
c.2394C>A (p.Gly798=)
18g.23539459C>ACA401792592NPC1c.2807G>T (p.Gly936Val)
c.1885G>T
n.440G>T
c.2858G>T (p.Gly953Val)
c.2393G>T (p.Gly798Val)
18g.23539459C=CA2290165760NPC1c.2807G= (p.Gly936=)
c.1885G=
n.440G=
c.2858G= (p.Gly953=)
c.2393G= (p.Gly798=)
18g.23539459C>GCA401792593NPC1c.2807G>C (p.Gly936Ala)
c.1885G>C
n.440G>C
c.2858G>C (p.Gly953Ala)
c.2393G>C (p.Gly798Ala)
18g.23539459C>TCA401792594NPC1c.2807G>A (p.Gly936Asp)
c.1885G>A
n.440G>A
c.2858G>A (p.Gly953Asp)
c.2393G>A (p.Gly798Asp)
 dbSNP gnomAD v2 gnomAD v4
18g.23539460delCA2641273132NPC1c.2807del (p.Gly936AlafsTer15)
c.1885del
n.440del
c.2858del (p.Gly953AlafsTer15)
c.2393del (p.Gly798AlafsTer15)
 gnomAD v4
18g.23539460C>ACA401792595NPC1c.2806G>T (p.Gly936Cys)
c.1884G>T
n.439G>T
c.2857G>T (p.Gly953Cys)
c.2392G>T (p.Gly798Cys)
18g.23539460C>GCA401792596NPC1c.2806G>C (p.Gly936Arg)
c.1884G>C
n.439G>C
c.2857G>C (p.Gly953Arg)
c.2392G>C (p.Gly798Arg)
18g.23539460C>TCA401792597NPC1c.2806G>A (p.Gly936Ser)
c.1884G>A
n.439G>A
c.2857G>A (p.Gly953Ser)
c.2392G>A (p.Gly798Ser)
18g.23539461T>ACA503322585NPC1c.2805A>T (p.Ile935=)
c.1883A>T
n.438A>T
c.2856A>T (p.Ile952=)
c.2391A>T (p.Ile797=)
18g.23539461T>CCA401792598NPC1c.2805A>G (p.Ile935Met)
c.1883A>G
n.438A>G
c.2856A>G (p.Ile952Met)
c.2391A>G (p.Ile797Met)
18g.23539461T>GCA503322586NPC1c.2805A>C (p.Ile935=)
c.1883A>C
n.438A>C
c.2856A>C (p.Ile952=)
c.2391A>C (p.Ile797=)
18g.23539462A>CCA401792599NPC1c.2804T>G (p.Ile935Arg)
c.1882T>G
n.437T>G
c.2855T>G (p.Ile952Arg)
c.2390T>G (p.Ile797Arg)
18g.23539462A>GCA401792601NPC1c.2804T>C (p.Ile935Thr)
c.1882T>C
n.437T>C
c.2855T>C (p.Ile952Thr)
c.2390T>C (p.Ile797Thr)
18g.23539462A>TCA401792600NPC1c.2804T>A (p.Ile935Lys)
c.1882T>A
n.437T>A
c.2855T>A (p.Ile952Lys)
c.2390T>A (p.Ile797Lys)
18g.23539463T>ACA401792602NPC1c.2803A>T (p.Ile935Leu)
c.1881A>T
n.436A>T
c.2854A>T (p.Ile952Leu)
c.2389A>T (p.Ile797Leu)
18g.23539463T>CCA401792603NPC1c.2803A>G (p.Ile935Val)
c.1881A>G
n.436A>G
c.2854A>G (p.Ile952Val)
c.2389A>G (p.Ile797Val)
18g.23539463T>GCA401792604NPC1c.2803A>C (p.Ile935Leu)
c.1881A>C
n.436A>C
c.2854A>C (p.Ile952Leu)
c.2389A>C (p.Ile797Leu)
18g.23539464T>ACA503322587NPC1c.2802A>T (p.Arg934=)
c.1880A>T
n.435A>T
c.2853A>T (p.Arg951=)
c.2388A>T (p.Arg796=)
18g.23539464T>CCA503322588NPC1c.2802A>G (p.Arg934=)
c.1880A>G
n.435A>G
c.2853A>G (p.Arg951=)
c.2388A>G (p.Arg796=)
 COSMIC COSMIC
18g.23539464T>GCA8912952NPC1c.2802A>C (p.Arg934=)
c.1880A>C
n.435A>C
c.2853A>C (p.Arg951=)
c.2388A>C (p.Arg796=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539464T=CA2290165761NPC1c.2802A= (p.Arg934=)
c.1880A=
n.435A=
c.2853A= (p.Arg951=)
c.2388A= (p.Arg796=)
18g.23539465C>ACA10606394NPC1c.2801G>T (p.Arg934Leu)
c.1879G>T
n.434G>T
c.2852G>T (p.Arg951Leu)
c.2387G>T (p.Arg796Leu)
 ClinVar dbSNP
18g.23539465C=CA2290165762NPC1c.2801G= (p.Arg934=)
c.1879G=
n.434G=
c.2852G= (p.Arg951=)
c.2387G= (p.Arg796=)
18g.23539465C>GCA401792605NPC1c.2801G>C (p.Arg934Pro)
c.1879G>C
n.434G>C
c.2852G>C (p.Arg951Pro)
c.2387G>C (p.Arg796Pro)
18g.23539465C>TCA274396NPC1c.2801G>A (p.Arg934Gln)
c.1879G>A
n.434G>A
c.2852G>A (p.Arg951Gln)
c.2387G>A (p.Arg796Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539466G>ACA8912953NPC1c.2800C>T (p.Arg934Ter)
c.1878C>T
n.433C>T
c.2851C>T (p.Arg951Ter)
c.2386C>T (p.Arg796Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539466G>CCA401792606NPC1c.2800C>G (p.Arg934Gly)
c.1878C>G
n.433C>G
c.2851C>G (p.Arg951Gly)
c.2386C>G (p.Arg796Gly)
18g.23539466G=CA2290165763NPC1c.2800C= (p.Arg934=)
c.1878C=
n.433C=
c.2851C= (p.Arg951=)
c.2386C= (p.Arg796=)
18g.23539466G>TCA503322589NPC1c.2800C>A (p.Arg934=)
c.1878C>A
n.433C>A
c.2851C>A (p.Arg951=)
c.2386C>A (p.Arg796=)
18g.23539467G>ACA503322591NPC1c.2799C>T (p.Thr933=)
c.1877C>T
n.432C>T
c.2850C>T (p.Thr950=)
c.2385C>T (p.Thr795=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539467G>CCA503322590NPC1c.2799C>G (p.Thr933=)
c.1877C>G
n.432C>G
c.2850C>G (p.Thr950=)
c.2385C>G (p.Thr795=)
 ClinVar gnomAD v4
18g.23539467G=CA2290165764NPC1c.2799C= (p.Thr933=)
c.1877C=
n.432C=
c.2850C= (p.Thr950=)
c.2385C= (p.Thr795=)
18g.23539467G>TCA8912954NPC1c.2799C>A (p.Thr933=)
c.1877C>A
n.432C>A
c.2850C>A (p.Thr950=)
c.2385C>A (p.Thr795=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539468G>ACA297081212NPC1c.2798C>T (p.Thr933Ile)
c.1876C>T
n.431C>T
c.2849C>T (p.Thr950Ile)
c.2384C>T (p.Thr795Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23539468G>CCA401792608NPC1c.2798C>G (p.Thr933Ser)
c.1876C>G
n.431C>G
c.2849C>G (p.Thr950Ser)
c.2384C>G (p.Thr795Ser)
18g.23539468G=CA2290165765NPC1c.2798C= (p.Thr933=)
c.1876C=
n.431C=
c.2849C= (p.Thr950=)
c.2384C= (p.Thr795=)
18g.23539468G>TCA401792607NPC1c.2798C>A (p.Thr933Asn)
c.1876C>A
n.431C>A
c.2849C>A (p.Thr950Asn)
c.2384C>A (p.Thr795Asn)
 gnomAD v4
18g.23539469T>ACA401792609NPC1c.2797A>T (p.Thr933Ser)
c.1875A>T
n.430A>T
c.2848A>T (p.Thr950Ser)
c.2383A>T (p.Thr795Ser)
18g.23539469T>CCA401792610NPC1c.2797A>G (p.Thr933Ala)
c.1875A>G
n.430A>G
c.2848A>G (p.Thr950Ala)
c.2383A>G (p.Thr795Ala)
18g.23539469T>GCA401792611NPC1c.2797A>C (p.Thr933Pro)
c.1875A>C
n.430A>C
c.2848A>C (p.Thr950Pro)
c.2383A>C (p.Thr795Pro)
18g.23539470A>CCA401792612NPC1c.2796T>G (p.Tyr932Ter)
c.1874T>G
n.429T>G
c.2847T>G (p.Tyr949Ter)
c.2382T>G (p.Tyr794Ter)
18g.23539470A>GCA503322592NPC1c.2796T>C (p.Tyr932=)
c.1874T>C
n.429T>C
c.2847T>C (p.Tyr949=)
c.2382T>C (p.Tyr794=)
18g.23539470A>TCA401792613NPC1c.2796T>A (p.Tyr932Ter)
c.1874T>A
n.429T>A
c.2847T>A (p.Tyr949Ter)
c.2382T>A (p.Tyr794Ter)
18g.23539470_23539471insTAGTTGTCCAGCA2641273133NPC1c.2796-1_2796insCTGGACAACTA (n.2796-1_2796insCTGGACAACTA)
c.1874-1_1874insCTGGACAACTA
n.428_429insCTGGACAACTA
c.2847-1_2847insCTGGACAACTA (n.2847-1_2847insCTGGACAACTA)
c.2382-1_2382insCTGGACAACTA (n.2382-1_2382insCTGGACAACTA)
 gnomAD v4
18g.23539471C>ACA401792614NPC1c.2796-1G>T (n.2796-1G>T)
c.1874-1G>T
n.428G>T
c.2847-1G>T (n.2847-1G>T)
c.2382-1G>T (n.2382-1G>T)
18g.23539471C>GCA401792615NPC1c.2796-1G>C (n.2796-1G>C)
c.1874-1G>C
n.428G>C
c.2847-1G>C (n.2847-1G>C)
c.2382-1G>C (n.2382-1G>C)
 gnomAD v4
18g.23539471C>TCA401792616NPC1c.2796-1G>A (n.2796-1G>A)
c.1874-1G>A
n.428G>A
c.2847-1G>A (n.2847-1G>A)
c.2382-1G>A (n.2382-1G>A)
18g.23539472T>ACA401792617NPC1c.2796-2A>T (n.2796-2A>T)
c.1874-2A>T
n.427A>T
c.2847-2A>T (n.2847-2A>T)
c.2382-2A>T (n.2382-2A>T)
 ClinVar gnomAD v4
18g.23539472T>CCA401792618NPC1c.2796-2A>G (n.2796-2A>G)
c.1874-2A>G
n.427A>G
c.2847-2A>G (n.2847-2A>G)
c.2382-2A>G (n.2382-2A>G)
18g.23539472T>GCA401792619NPC1c.2796-2A>C (n.2796-2A>C)
c.1874-2A>C
n.427A>C
c.2847-2A>C (n.2847-2A>C)
c.2382-2A>C (n.2382-2A>C)
18g.23539472_23539473insGCGCCGCGTTAAATATCTGCTGCACCCA2641273134NPC1c.2796-3_2796-2insGGTGCAGCAGATATTTAACGCGGCGC (n.2796-3_2796-2insGGTGCAGCAGATATTTAACGCGGCGC)
c.1874-3_1874-2insGGTGCAGCAGATATTTAACGCGGCGC
n.426_427insGGTGCAGCAGATATTTAACGCGGCGC
c.2847-3_2847-2insGGTGCAGCAGATATTTAACGCGGCGC (n.2847-3_2847-2insGGTGCAGCAGATATTTAACGCGGCGC)
c.2382-3_2382-2insGGTGCAGCAGATATTTAACGCGGCGC (n.2382-3_2382-2insGGTGCAGCAGATATTTAACGCGGCGC)
 gnomAD v4
18g.23539474G>ACA8912955NPC1c.2796-4C>T (n.2796-4C>T)
c.1874-4C>T
n.425C>T
c.2847-4C>T (n.2847-4C>T)
c.2382-4C>T (n.2382-4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539474G>CCA628677888NPC1c.2796-4C>G (n.2796-4C>G)
c.1874-4C>G
n.425C>G
c.2847-4C>G (n.2847-4C>G)
c.2382-4C>G (n.2382-4C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23539474G=CA2290165766NPC1c.2796-4C= (n.2796-4C=)
c.1874-4C=
n.425C=
c.2847-4C= (n.2847-4C=)
c.2382-4C= (n.2382-4C=)
18g.23539474G>TCA2641273135NPC1c.2796-4C>A (n.2796-4C>A)
c.1874-4C>A
n.425C>A
c.2847-4C>A (n.2847-4C>A)
c.2382-4C>A (n.2382-4C>A)
 gnomAD v4
18g.23539475A>GCA2580095520NPC1c.2796-5T>C (n.2796-5T>C)
c.1874-5T>C
n.424T>C
c.2847-5T>C (n.2847-5T>C)
c.2382-5T>C (n.2382-5T>C)
 ClinVar gnomAD v4
18g.23539476G>TCA2641273136NPC1c.2796-6C>A (n.2796-6C>A)
c.1874-6C>A
n.423C>A
c.2847-6C>A (n.2847-6C>A)
c.2382-6C>A (n.2382-6C>A)
 gnomAD v4
18g.23539477A>CCA2573155234NPC1c.2796-7T>G (n.2796-7T>G)
c.1874-7T>G
n.422T>G
c.2847-7T>G (n.2847-7T>G)
c.2382-7T>G (n.2382-7T>G)
 ClinVar dbSNP
18g.23539477_23539478insTGTCCA2641273137NPC1c.2796-8_2796-7insGACA (n.2796-8_2796-7insGACA)
c.1874-8_1874-7insGACA
n.421_422insGACA
c.2847-8_2847-7insGACA (n.2847-8_2847-7insGACA)
c.2382-8_2382-7insGACA (n.2382-8_2382-7insGACA)
 gnomAD v4
18g.23539478G>ACA915940934NPC1c.2796-8C>T (n.2796-8C>T)
c.1874-8C>T
n.421C>T
c.2847-8C>T (n.2847-8C>T)
c.2382-8C>T (n.2382-8C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23539478G=CA2290165767NPC1c.2796-8C= (n.2796-8C=)
c.1874-8C=
n.421C=
c.2847-8C= (n.2847-8C=)
c.2382-8C= (n.2382-8C=)
18g.23539478G>TCA2641273138NPC1c.2796-8C>A (n.2796-8C>A)
c.1874-8C>A
n.421C>A
c.2847-8C>A (n.2847-8C>A)
c.2382-8C>A (n.2382-8C>A)
 gnomAD v4
18g.23539479G>ACA628677890NPC1c.2796-9C>T (n.2796-9C>T)
c.1874-9C>T
n.420C>T
c.2847-9C>T (n.2847-9C>T)
c.2382-9C>T (n.2382-9C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539479G=CA2290165768NPC1c.2796-9C= (n.2796-9C=)
c.1874-9C=
n.420C=
c.2847-9C= (n.2847-9C=)
c.2382-9C= (n.2382-9C=)
18g.23539479G>TCA2641273139NPC1c.2796-9C>A (n.2796-9C>A)
c.1874-9C>A
n.420C>A
c.2847-9C>A (n.2847-9C>A)
c.2382-9C>A (n.2382-9C>A)
 gnomAD v4
18g.23539484_23539487dupCA777719612NPC1c.2796-12_2796-9dup (n.2796-12_2796-9dup)
c.1874-12_1874-9dup
n.417_420dup
c.2847-12_2847-9dup (n.2847-12_2847-9dup)
c.2382-12_2382-9dup (n.2382-12_2382-9dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23539484_23539487delCA2695227441NPC1c.2796-12_2796-9del (n.2796-12_2796-9del)
c.1874-12_1874-9del
n.417_420del
c.2847-12_2847-9del (n.2847-12_2847-9del)
c.2382-12_2382-9del (n.2382-12_2382-9del)
18g.23539481C>TCA2641273140NPC1c.2796-11G>A (n.2796-11G>A)
c.1874-11G>A
n.418G>A
c.2847-11G>A (n.2847-11G>A)
c.2382-11G>A (n.2382-11G>A)
 gnomAD v4
18g.23539483G>TCA2641273141NPC1c.2796-13C>A (n.2796-13C>A)
c.1874-13C>A
n.416C>A
c.2847-13C>A (n.2847-13C>A)
c.2382-13C>A (n.2382-13C>A)
 gnomAD v4
18g.23539484A>CCA2641273142NPC1c.2796-14T>G (n.2796-14T>G)
c.1874-14T>G
n.415T>G
c.2847-14T>G (n.2847-14T>G)
c.2382-14T>G (n.2382-14T>G)
 gnomAD v4
18g.23539485C>GCA2576470535NPC1c.2796-15G>C (n.2796-15G>C)
c.1874-15G>C
n.414G>C
c.2847-15G>C (n.2847-15G>C)
c.2382-15G>C (n.2382-15G>C)
 ClinVar gnomAD v4
18g.23539485C>TCA2580095521NPC1c.2796-15G>A (n.2796-15G>A)
c.1874-15G>A
n.414G>A
c.2847-15G>A (n.2847-15G>A)
c.2382-15G>A (n.2382-15G>A)
 ClinVar gnomAD v4
18g.23539486A=CA2290165769NPC1c.2796-16T= (n.2796-16T=)
c.1874-16T=
n.413T=
c.2847-16T= (n.2847-16T=)
c.2382-16T= (n.2382-16T=)
18g.23539486A>GCA628677891NPC1c.2796-16T>C (n.2796-16T>C)
c.1874-16T>C
n.413T>C
c.2847-16T>C (n.2847-16T>C)
c.2382-16T>C (n.2382-16T>C)
 dbSNP gnomAD v2 gnomAD v4
18g.23539486_23539487delCA2576470536NPC1c.2796-17_2796-16del (n.2796-17_2796-16del)
c.1874-17_1874-16del
n.412_413del
c.2847-17_2847-16del (n.2847-17_2847-16del)
c.2382-17_2382-16del (n.2382-17_2382-16del)
 gnomAD v4
18g.23539487G>ACA297081215NPC1c.2796-17C>T (n.2796-17C>T)
c.1874-17C>T
n.412C>T
c.2847-17C>T (n.2847-17C>T)
c.2382-17C>T (n.2382-17C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539487G>CCA8912956NPC1c.2796-17C>G (n.2796-17C>G)
c.1874-17C>G
n.412C>G
c.2847-17C>G (n.2847-17C>G)
c.2382-17C>G (n.2382-17C>G)
 ClinVar dbSNP ExAC gnomAD v2
18g.23539487G=CA2290165770NPC1c.2796-17C= (n.2796-17C=)
c.1874-17C=
n.412C=
c.2847-17C= (n.2847-17C=)
c.2382-17C= (n.2382-17C=)
18g.23539487G>TCA2641273144NPC1c.2796-17C>A (n.2796-17C>A)
c.1874-17C>A
n.412C>A
c.2847-17C>A (n.2847-17C>A)
c.2382-17C>A (n.2382-17C>A)
 gnomAD v4
18g.23539488G>ACA2641273145NPC1c.2796-18C>T (n.2796-18C>T)
c.1874-18C>T
n.411C>T
c.2847-18C>T (n.2847-18C>T)
c.2382-18C>T (n.2382-18C>T)
 gnomAD v4
18g.23539488G>CCA2641273146NPC1c.2796-18C>G (n.2796-18C>G)
c.1874-18C>G
n.411C>G
c.2847-18C>G (n.2847-18C>G)
c.2382-18C>G (n.2382-18C>G)
 ClinVar gnomAD v4
18g.23539488G>TCA2641273147NPC1c.2796-18C>A (n.2796-18C>A)
c.1874-18C>A
n.411C>A
c.2847-18C>A (n.2847-18C>A)
c.2382-18C>A (n.2382-18C>A)
 gnomAD v4
18g.23539489G>TCA2573155235NPC1c.2796-19C>A (n.2796-19C>A)
c.1874-19C>A
n.410C>A
c.2847-19C>A (n.2847-19C>A)
c.2382-19C>A (n.2382-19C>A)
 ClinVar dbSNP gnomAD v4
18g.23539490T>CCA8912957NPC1c.2796-20A>G (n.2796-20A>G)
c.1874-20A>G
n.409A>G
c.2847-20A>G (n.2847-20A>G)
c.2382-20A>G (n.2382-20A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539490T=CA2290165771NPC1c.2796-20A= (n.2796-20A=)
c.1874-20A=
n.409A=
c.2847-20A= (n.2847-20A=)
c.2382-20A= (n.2382-20A=)
18g.23539493C>ACA777719624NPC1c.2796-23G>T (n.2796-23G>T)
c.1874-23G>T
n.406G>T
c.2847-23G>T (n.2847-23G>T)
c.2382-23G>T (n.2382-23G>T)
 dbSNP gnomAD v3 gnomAD v4
18g.23539493C=CA2290165772NPC1c.2796-23G= (n.2796-23G=)
c.1874-23G=
n.406G=
c.2847-23G= (n.2847-23G=)
c.2382-23G= (n.2382-23G=)
18g.23539493C>GCA628677893NPC1c.2796-23G>C (n.2796-23G>C)
c.1874-23G>C
n.406G>C
c.2847-23G>C (n.2847-23G>C)
c.2382-23G>C (n.2382-23G>C)
 dbSNP gnomAD v2 gnomAD v4
18g.23539493C>TCA8912958NPC1c.2796-23G>A (n.2796-23G>A)
c.1874-23G>A
n.406G>A
c.2847-23G>A (n.2847-23G>A)
c.2382-23G>A (n.2382-23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched