Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74486332T>ACA390532631NPC2c.187A>T (p.Ser63Cys)
c.155A>T (p.Gln52Leu)
c.252A>T
14g.74486332T>CCA390532632NPC2c.187A>G (p.Ser63Gly)
c.155A>G (p.Gln52Arg)
c.252A>G
14g.74486332T>GCA390532633NPC2c.187A>C (p.Ser63Arg)
c.155A>C (p.Gln52Pro)
c.252A>C
14g.74486333G>ACA487219994NPC2c.186C>T (p.Thr62=)
c.154C>T (p.Gln52Ter)
c.251C>T
 ClinVar gnomAD v4
14g.74486333G>CCA487219998NPC2c.186C>G (p.Thr62=)
c.154C>G (p.Gln52Glu)
c.251C>G
14g.74486333G>TCA487219996NPC2c.186C>A (p.Thr62=)
c.154C>A (p.Gln52Lys)
c.251C>A
14g.74486334G>ACA390532634NPC2c.185C>T (p.Thr62Ile)
c.153C>T (p.His51=)
c.250C>T
 dbSNP gnomAD v4
14g.74486334G>CCA390532635NPC2c.185C>G (p.Thr62Ser)
c.153C>G (p.His51Gln)
c.250C>G
 gnomAD v4
14g.74486334G=CA2147067076NPC2c.185C= (p.Thr62=)
c.153C= (p.His51=)
c.250C=
14g.74486334G>TCA390532636NPC2c.185C>A (p.Thr62Asn)
c.153C>A (p.His51Gln)
c.250C>A
14g.74486335_74486336delCA2580088729NPC2c.184_185del (p.Thr62GlnfsTer6)
c.152_153del (p.His51ProfsTer?)
c.249_250del
 ClinVar
14g.74486335T>ACA390532637NPC2c.184A>T (p.Thr62Ser)
c.152A>T (p.His51Leu)
c.249A>T
14g.74486335T>CCA7268184NPC2c.184A>G (p.Thr62Ala)
c.152A>G (p.His51Arg)
c.249A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74486335T>GCA390532638NPC2c.184A>C (p.Thr62Pro)
c.152A>C (p.His51Pro)
c.249A>C
14g.74486335T=CA2147067077NPC2c.184A= (p.Thr62=)
c.152A= (p.His51=)
c.249A=
14g.74486336G>ACA7268185NPC2c.183C>T (p.Phe61=)
c.151C>T (p.His51Tyr)
c.248C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.74486336G>CCA390532639NPC2c.183C>G (p.Phe61Leu)
c.151C>G (p.His51Asp)
c.248C>G
14g.74486336G=CA2147067078NPC2c.183C= (p.Phe61=)
c.151C= (p.His51=)
c.248C=
14g.74486336G>TCA390532640NPC2c.183C>A (p.Phe61Leu)
c.151C>A (p.His51Asn)
c.248C>A
 gnomAD v4
14g.74486337A>CCA390532643NPC2c.182T>G (p.Phe61Cys)
c.150T>G (p.Leu50=)
c.247T>G
14g.74486337A>GCA390532642NPC2c.182T>C (p.Phe61Ser)
c.150T>C (p.Leu50=)
c.247T>C
 gnomAD v4
14g.74486337A>TCA390532641NPC2c.182T>A (p.Phe61Tyr)
c.150T>A (p.Leu50=)
c.247T>A
14g.74486338A>CCA390532644NPC2c.181T>G (p.Phe61Val)
c.149T>G (p.Leu50Arg)
c.246T>G
14g.74486338A>GCA390532645NPC2c.181T>C (p.Phe61Leu)
c.149T>C (p.Leu50Pro)
c.246T>C
14g.74486338A>TCA390532646NPC2c.181T>A (p.Phe61Ile)
c.149T>A (p.Leu50His)
c.246T>A
14g.74486339G>ACA487220017NPC2c.180C>T (p.Thr60=)
c.148C>T (p.Leu50Phe)
c.245C>T
14g.74486339G>CCA487220020NPC2c.180C>G (p.Thr60=)
c.148C>G (p.Leu50Val)
c.245C>G
 dbSNP
14g.74486339G>TCA487220022NPC2c.180C>A (p.Thr60=)
c.148C>A (p.Leu50Ile)
c.245C>A
 gnomAD v4
14g.74486340G>ACA390532647NPC2c.179C>T (p.Thr60Ile)
c.147C>T (p.His49=)
c.244C>T
 dbSNP gnomAD v2 gnomAD v4
14g.74486340G>CCA390532648NPC2c.179C>G (p.Thr60Ser)
c.147C>G (p.His49Gln)
c.244C>G
14g.74486340G=CA2147067079NPC2c.179C= (p.Thr60=)
c.147C= (p.His49=)
c.244C=
14g.74486340G>TCA390532649NPC2c.179C>A (p.Thr60Asn)
c.147C>A (p.His49Gln)
c.244C>A
14g.74486341T>ACA390532650NPC2c.178A>T (p.Thr60Ser)
c.146A>T (p.His49Leu)
c.243A>T
14g.74486341T>CCA390532651NPC2c.178A>G (p.Thr60Ala)
c.146A>G (p.His49Arg)
c.243A>G
 gnomAD v4
14g.74486341T>GCA390532652NPC2c.178A>C (p.Thr60Pro)
c.146A>C (p.His49Pro)
c.243A>C
 gnomAD v4
14g.74486342G>ACA487220032NPC2c.177C>T (p.Val59=)
c.145C>T (p.His49Tyr)
c.242C>T
 dbSNP gnomAD v3 gnomAD v4
14g.74486342G>CCA487220031NPC2c.177C>G (p.Val59=)
c.145C>G (p.His49Asp)
c.242C>G
 gnomAD v4
14g.74486342G=CA2147067080NPC2c.177C= (p.Val59=)
c.145C= (p.His49=)
c.242C=
14g.74486342G>TCA487220030NPC2c.177C>A (p.Val59=)
c.145C>A (p.His49Asn)
c.242C>A
14g.74486343A>CCA390532653NPC2c.176T>G (p.Val59Gly)
c.144T>G (p.Cys48Trp)
c.241T>G
14g.74486343A>GCA390532654NPC2c.176T>C (p.Val59Ala)
c.144T>C (p.Cys48=)
c.241T>C
 gnomAD v4
14g.74486343A>TCA390532655NPC2c.176T>A (p.Val59Asp)
c.144T>A (p.Cys48Ter)
c.241T>A
14g.74486344C>ACA390532656NPC2c.175G>T (p.Val59Phe)
c.143G>T (p.Cys48Phe)
c.240G>T
14g.74486344C>GCA390532658NPC2c.175G>C (p.Val59Leu)
c.143G>C (p.Cys48Ser)
c.240G>C
 gnomAD v4
14g.74486344C>TCA390532657NPC2c.175G>A (p.Val59Ile)
c.143G>A (p.Cys48Tyr)
c.240G>A
 gnomAD v4
14g.74486345A>CCA390532659NPC2c.174T>G (p.Asn58Lys)
c.142T>G (p.Cys48Gly)
c.239T>G
14g.74486345A>GCA487220045NPC2c.174T>C (p.Asn58=)
c.142T>C (p.Cys48Arg)
c.239T>C
 gnomAD v4
14g.74486345A>TCA390532660NPC2c.174T>A (p.Asn58Lys)
c.142T>A (p.Cys48Ser)
c.239T>A
 gnomAD v4
14g.74486346T>ACA390532661NPC2c.173A>T (p.Asn58Ile)
c.141A>T (p.Gln47His)
c.238A>T
14g.74486346T>CCA390532662NPC2c.173A>G (p.Asn58Ser)
c.141A>G (p.Gln47=)
c.238A>G
 gnomAD v4
14g.74486346T>GCA390532663NPC2c.173A>C (p.Asn58Thr)
c.141A>C (p.Gln47His)
c.238A>C
14g.74486347T>ACA390532664NPC2c.172A>T (p.Asn58Tyr)
c.140A>T (p.Gln47Leu)
c.237A>T
 gnomAD v4
14g.74486347T>CCA390532665NPC2c.172A>G (p.Asn58Asp)
c.140A>G (p.Gln47Arg)
c.237A>G
14g.74486347T>GCA390532666NPC2c.172A>C (p.Asn58His)
c.140A>C (p.Gln47Pro)
c.237A>C
14g.74486348G>ACA487220058NPC2c.171C>T (p.Val57=)
c.139C>T (p.Gln47Ter)
c.236C>T
 gnomAD v4
14g.74486348G>CCA487220060NPC2c.171C>G (p.Val57=)
c.139C>G (p.Gln47Glu)
c.236C>G
14g.74486348G>TCA487220062NPC2c.171C>A (p.Val57=)
c.139C>A (p.Gln47Lys)
c.236C>A
14g.74486349A>CCA390532667NPC2c.170T>G (p.Val57Gly)
c.138T>G (p.Arg46=)
c.235T>G
14g.74486349A>GCA390532668NPC2c.170T>C (p.Val57Ala)
c.138T>C (p.Arg46=)
c.235T>C
 gnomAD v4
14g.74486349A>TCA390532669NPC2c.170T>A (p.Val57Asp)
c.138T>A (p.Arg46=)
c.235T>A
14g.74486350C>ACA390532671NPC2c.169G>T (p.Val57Phe)
c.137G>T (p.Arg46Leu)
c.234G>T
14g.74486350C=CA2147067081NPC2c.169G= (p.Val57=)
c.137G= (p.Arg46=)
c.234G=
14g.74486350C>GCA390532670NPC2c.169G>C (p.Val57Leu)
c.137G>C (p.Arg46Pro)
c.234G>C
14g.74486350C>TCA7268186NPC2c.169G>A (p.Val57Ile)
c.137G>A (p.Arg46His)
c.234G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74486351G>ACA7268187NPC2c.168C>T (p.Ser56=)
c.136C>T (p.Arg46Cys)
c.233C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74486351G>CCA390532672NPC2c.168C>G (p.Ser56Arg)
c.136C>G (p.Arg46Gly)
c.233C>G
14g.74486351G=CA2147067082NPC2c.168C= (p.Ser56=)
c.136C= (p.Arg46=)
c.233C=
14g.74486351G>TCA390532673NPC2c.168C>A (p.Ser56Arg)
c.136C>A (p.Arg46Ser)
c.233C>A
 gnomAD v4
14g.74486352C>ACA390532674NPC2c.167G>T (p.Ser56Ile)
c.135G>T (p.Gln45His)
c.232G>T
 gnomAD v4
14g.74486352C>GCA390532675NPC2c.167G>C (p.Ser56Thr)
c.135G>C (p.Gln45His)
c.232G>C
14g.74486352C>TCA390532676NPC2c.167G>A (p.Ser56Asn)
c.135G>A (p.Gln45=)
c.232G>A
14g.74486353T>ACA390532677NPC2c.166A>T (p.Ser56Cys)
c.134A>T (p.Gln45Leu)
c.231A>T
14g.74486353T>CCA390532678NPC2c.166A>G (p.Ser56Gly)
c.134A>G (p.Gln45Arg)
c.231A>G
 gnomAD v4
14g.74486353T>GCA390532679NPC2c.166A>C (p.Ser56Arg)
c.134A>C (p.Gln45Pro)
c.231A>C
 gnomAD v4
14g.74486354G>ACA487220087NPC2c.165C>T (p.Tyr55=)
c.133C>T (p.Gln45Ter)
c.230C>T
 ClinVar dbSNP gnomAD v4
14g.74486354G>CCA390532680NPC2c.165C>G (p.Tyr55Ter)
c.133C>G (p.Gln45Glu)
c.230C>G
 ClinVar dbSNP
14g.74486354G=CA2147067083NPC2c.165C= (p.Tyr55=)
c.133C= (p.Gln45=)
c.230C=
14g.74486354G>TCA390532681NPC2c.165C>A (p.Tyr55Ter)
c.133C>A (p.Gln45Lys)
c.230C>A
 gnomAD v4
14g.74486355T>ACA390532683NPC2c.164A>T (p.Tyr55Phe)
c.132A>T (p.Leu44Phe)
c.229A>T
14g.74486355T>CCA390532684NPC2c.164A>G (p.Tyr55Cys)
c.132A>G (p.Leu44=)
c.229A>G
14g.74486355T>GCA390532682NPC2c.164A>C (p.Tyr55Ser)
c.132A>C (p.Leu44Phe)
c.229A>C
14g.74486356A>CCA390532685NPC2c.163T>G (p.Tyr55Asp)
c.131T>G (p.Leu44Ter)
c.228T>G
14g.74486356A>GCA390532686NPC2c.163T>C (p.Tyr55His)
c.131T>C (p.Leu44Ser)
c.228T>C
14g.74486356A>TCA390532687NPC2c.163T>A (p.Tyr55Asn)
c.131T>A (p.Leu44Ter)
c.228T>A
14g.74486357A>CCA487220101NPC2c.162T>G (p.Ser54=)
c.130T>G (p.Leu44Val)
c.227T>G
14g.74486357A>GCA487220103NPC2c.162T>C (p.Ser54=)
c.130T>C (p.Leu44=)
c.227T>C
14g.74486357A>TCA487220106NPC2c.162T>A (p.Ser54=)
c.130T>A (p.Leu44Ile)
c.227T>A
 gnomAD v4
14g.74486358G>ACA390532688NPC2c.161C>T (p.Ser54Phe)
c.129C>T (p.Val43=)
c.226C>T
 gnomAD v4
14g.74486358G>CCA390532689NPC2c.161C>G (p.Ser54Cys)
c.129C>G (p.Val43=)
c.226C>G
 ClinVar gnomAD v4
14g.74486358G>TCA390532690NPC2c.161C>A (p.Ser54Tyr)
c.129C>A (p.Val43=)
c.226C>A
 gnomAD v4
14g.74486359A=CA2147067084NPC2c.160T= (p.Ser54=)
c.128T= (p.Val43=)
c.225T=
14g.74486359A>CCA390532692NPC2c.160T>G (p.Ser54Ala)
c.128T>G (p.Val43Gly)
c.225T>G
14g.74486359A>GCA7268188NPC2c.160T>C (p.Ser54Pro)
c.128T>C (p.Val43Ala)
c.225T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74486359A>TCA390532691NPC2c.160T>A (p.Ser54Thr)
c.128T>A (p.Val43Asp)
c.225T>A
14g.74486360C>ACA390532693NPC2c.159G>T (p.Gln53His)
c.127G>T (p.Val43Phe)
c.224G>T
14g.74486360C>GCA390532694NPC2c.159G>C (p.Gln53His)
c.127G>C (p.Val43Leu)
c.224G>C
14g.74486360C>TCA487220122NPC2c.159G>A (p.Gln53=)
c.127G>A (p.Val43Ile)
c.224G>A
 gnomAD v4
14g.74486361T>ACA390532695NPC2c.158A>T (p.Gln53Leu)
c.126A>T (p.Thr42=)
c.223A>T
14g.74486361T>CCA390532696NPC2c.158A>G (p.Gln53Arg)
c.126A>G (p.Thr42=)
c.223A>G
 gnomAD v4
14g.74486361T>GCA390532697NPC2c.158A>C (p.Gln53Pro)
c.126A>C (p.Thr42=)
c.223A>C
14g.74486362G>ACA390532698NPC2c.157C>T (p.Gln53Ter)
c.125C>T (p.Thr42Ile)
c.222C>T
 ClinVar dbSNP gnomAD v4
14g.74486362G>CCA390532700NPC2c.157C>G (p.Gln53Glu)
c.125C>G (p.Thr42Arg)
c.222C>G
14g.74486362G=CA2147067085NPC2c.157C= (p.Gln53=)
c.125C= (p.Thr42=)
c.222C=
14g.74486362G>TCA390532699NPC2c.157C>A (p.Gln53Lys)
c.125C>A (p.Thr42Lys)
c.222C>A
14g.74486363T>ACA487220138NPC2c.156A>T (p.Gly52=)
c.124A>T (p.Thr42Ser)
c.221A>T
 dbSNP gnomAD v2
14g.74486363T>CCA263661882NPC2c.156A>G (p.Gly52=)
c.124A>G (p.Thr42Ala)
c.221A>G
 gnomAD v4
14g.74486363T>GCA487220139NPC2c.156A>C (p.Gly52=)
c.124A>C (p.Thr42Pro)
c.221A>C
14g.74486363T=CA2147067086NPC2c.156A= (p.Gly52=)
c.124A= (p.Thr42=)
c.221A=
14g.74486364C>ACA390532701NPC2c.155G>T (p.Gly52Val)
c.123G>T (p.Arg41Ser)
c.220G>T
 gnomAD v4
14g.74486364C>GCA390532702NPC2c.155G>C (p.Gly52Ala)
c.123G>C (p.Arg41Ser)
c.220G>C
14g.74486364C>TCA390532703NPC2c.155G>A (p.Gly52Glu)
c.123G>A (p.Arg41=)
c.220G>A
14g.74486365C>ACA390532704NPC2c.154G>T (p.Gly52Ter)
c.122G>T (p.Arg41Met)
c.219G>T
 ClinVar gnomAD v4
14g.74486365C>GCA390532705NPC2c.154G>C (p.Gly52Arg)
c.122G>C (p.Arg41Thr)
c.219G>C
14g.74486365C>TCA390532706NPC2c.154G>A (p.Gly52Arg)
c.122G>A (p.Arg41Lys)
c.219G>A
 gnomAD v4
14g.74486366T>ACA390532707NPC2c.153A>T (p.Lys51Asn)
c.121A>T (p.Arg41Trp)
c.218A>T
 gnomAD v4
14g.74486366T>CCA487220153NPC2c.153A>G (p.Lys51=)
c.121A>G (p.Arg41Gly)
c.218A>G
 COSMIC
14g.74486366T>GCA390532708NPC2c.153A>C (p.Lys51Asn)
c.121A>C (p.Arg41=)
c.218A>C
14g.74486367T>ACA390532709NPC2c.152A>T (p.Lys51Ile)
c.120A>T (p.Gln40His)
c.217A>T
14g.74486367T>CCA390532710NPC2c.152A>G (p.Lys51Arg)
c.120A>G (p.Gln40=)
c.217A>G
14g.74486367T>GCA390532711NPC2c.152A>C (p.Lys51Thr)
c.120A>C (p.Gln40His)
c.217A>C
14g.74486368T>ACA390532712NPC2c.151A>T (p.Lys51Ter)
c.119A>T (p.Gln40Leu)
c.216A>T
14g.74486368T>CCA390532714NPC2c.151A>G (p.Lys51Glu)
c.119A>G (p.Gln40Arg)
c.216A>G
14g.74486368T>GCA390532713NPC2c.151A>C (p.Lys51Gln)
c.119A>C (p.Gln40Pro)
c.216A>C
14g.74486369G>ACA487220171NPC2c.150C>T (p.Ser50=)
c.118C>T (p.Gln40Ter)
c.215C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.74486369G>CCA390532715NPC2c.150C>G (p.Ser50Arg)
c.118C>G (p.Gln40Glu)
c.215C>G
14g.74486369G=CA2147067087NPC2c.150C= (p.Ser50=)
c.118C= (p.Gln40=)
c.215C=
14g.74486369G>TCA390532716NPC2c.150C>A (p.Ser50Arg)
c.118C>A (p.Gln40Lys)
c.215C>A
 gnomAD v4
14g.74486370C>ACA390532717NPC2c.149G>T (p.Ser50Ile)
c.117G>T (p.Glu39Asp)
c.214G>T
 gnomAD v4
14g.74486370C=CA2147067088NPC2c.149G= (p.Ser50=)
c.117G= (p.Glu39=)
c.214G=
14g.74486370C>GCA390532718NPC2c.149G>C (p.Ser50Thr)
c.117G>C (p.Glu39Asp)
c.214G>C
14g.74486370C>TCA263661888NPC2c.149G>A (p.Ser50Asn)
c.117G>A (p.Glu39=)
c.214G>A
 dbSNP gnomAD v3 gnomAD v4
14g.74486371_74486372delCA2580088731NPC2c.148_149del (p.Ser50GlnfsTer18)
c.116_117del (p.Glu39AlafsTer?)
c.213_214del
 ClinVar
14g.74486371T>ACA390532719NPC2c.148A>T (p.Ser50Cys)
c.116A>T (p.Glu39Val)
c.213A>T
14g.74486371T>CCA390532720NPC2c.148A>G (p.Ser50Gly)
c.116A>G (p.Glu39Gly)
c.213A>G
14g.74486371T>GCA390532721NPC2c.148A>C (p.Ser50Arg)
c.116A>C (p.Glu39Ala)
c.213A>C
14g.74486372C>ACA487220184NPC2c.147G>T (p.Leu49=)
c.115G>T (p.Glu39Ter)
c.212G>T
 gnomAD v4
14g.74486372C=CA2147067089NPC2c.147G= (p.Leu49=)
c.115G= (p.Glu39=)
c.212G=
14g.74486372C>GCA487220186NPC2c.147G>C (p.Leu49=)
c.115G>C (p.Glu39Gln)
c.212G>C
14g.74486372C>TCA487220188NPC2c.147G>A (p.Leu49=)
c.115G>A (p.Glu39Lys)
c.212G>A
 dbSNP
14g.74486373A=CA2147067090NPC2c.146T= (p.Leu49=)
c.114T= (p.Ala38=)
c.211T=
14g.74486373A>CCA390532722NPC2c.146T>G (p.Leu49Arg)
c.114T>G (p.Ala38=)
c.211T>G
14g.74486373A>GCA390532723NPC2c.146T>C (p.Leu49Pro)
c.114T>C (p.Ala38=)
c.211T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74486373A>TCA390532724NPC2c.146T>A (p.Leu49Gln)
c.114T>A (p.Ala38=)
c.211T>A
 gnomAD v4
14g.74486374G>ACA7268189NPC2c.145C>T (p.Leu49=)
c.113C>T (p.Ala38Val)
c.210C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74486374G>CCA390532726NPC2c.145C>G (p.Leu49Val)
c.113C>G (p.Ala38Gly)
c.210C>G
14g.74486374G=CA2147067091NPC2c.145C= (p.Leu49=)
c.113C= (p.Ala38=)
c.210C=
14g.74486374G>TCA390532725NPC2c.145C>A (p.Leu49Met)
c.113C>A (p.Ala38Asp)
c.210C>A
 gnomAD v4
14g.74486375C>ACA390532727NPC2c.144G>T (p.Gln48His)
c.112G>T (p.Ala38Ser)
c.209G>T
 gnomAD v4
14g.74486375C>GCA390532728NPC2c.144G>C (p.Gln48His)
c.112G>C (p.Ala38Pro)
c.209G>C
14g.74486375C>TCA487220222NPC2c.144G>A (p.Gln48=)
c.112G>A (p.Ala38Thr)
c.209G>A
14g.74486376T>ACA390532729NPC2c.143A>T (p.Gln48Leu)
c.111A>T (p.Pro37=)
c.208A>T
 COSMIC
14g.74486376T>CCA390532730NPC2c.143A>G (p.Gln48Arg)
c.111A>G (p.Pro37=)
c.208A>G
 gnomAD v4
14g.74486376T>GCA390532731NPC2c.143A>C (p.Gln48Pro)
c.111A>C (p.Pro37=)
c.208A>C
 dbSNP gnomAD v3 gnomAD v4
14g.74486376T=CA2147067092NPC2c.143A= (p.Gln48=)
c.111A= (p.Pro37=)
c.208A=
14g.74486377G>ACA390532732NPC2c.142C>T (p.Gln48Ter)
c.110C>T (p.Pro37Leu)
c.207C>T
 ClinVar dbSNP gnomAD v4
14g.74486377G>CCA390532733NPC2c.142C>G (p.Gln48Glu)
c.110C>G (p.Pro37Arg)
c.207C>G
14g.74486377G=CA2147067093NPC2c.142C= (p.Gln48=)
c.110C= (p.Pro37=)
c.207C=
14g.74486377G>TCA390532734NPC2c.142C>A (p.Gln48Lys)
c.110C>A (p.Pro37Gln)
c.207C>A
14g.74486378G>ACA487220229NPC2c.141C>T (p.Cys47=)
c.109C>T (p.Pro37Ser)
c.206C>T
 gnomAD v4 COSMIC
14g.74486378G>CCA390532735NPC2c.141C>G (p.Cys47Trp)
c.109C>G (p.Pro37Ala)
c.206C>G
14g.74486378G=CA2147067094NPC2c.141C= (p.Cys47=)
c.109C= (p.Pro37=)
c.206C=
14g.74486378G>TCA342108NPC2c.141C>A (p.Cys47Ter)
c.109C>A (p.Pro37Thr)
c.206C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.74486379C>ACA390532736NPC2c.140G>T (p.Cys47Phe)
c.108G>T (p.Leu36=)
c.205G>T
 ClinVar dbSNP gnomAD v4
14g.74486379C=CA2147067095NPC2c.140G= (p.Cys47=)
c.108G= (p.Leu36=)
c.205G=
14g.74486379C>GCA390532737NPC2c.140G>C (p.Cys47Ser)
c.108G>C (p.Leu36=)
c.205G>C
14g.74486379C>TCA390532738NPC2c.140G>A (p.Cys47Tyr)
c.108G>A (p.Leu36=)
c.205G>A
 gnomAD v4
14g.74486380A>CCA390532740NPC2c.139T>G (p.Cys47Gly)
c.107T>G (p.Leu36Arg)
c.204T>G
14g.74486380A>GCA390532741NPC2c.139T>C (p.Cys47Arg)
c.107T>C (p.Leu36Pro)
c.204T>C
 dbSNP
14g.74486380A>TCA390532739NPC2c.139T>A (p.Cys47Ser)
c.107T>A (p.Leu36Gln)
c.204T>A
14g.74486381G>ACA487220242NPC2c.138C>T (p.Pro46=)
c.106C>T (p.Leu36=)
c.203C>T
 gnomAD v4
14g.74486381G>CCA487220243NPC2c.138C>G (p.Pro46=)
c.106C>G (p.Leu36Val)
c.203C>G
14g.74486381G>TCA487220246NPC2c.138C>A (p.Pro46=)
c.106C>A (p.Leu36Met)
c.203C>A
 gnomAD v4
14g.74486382G>ACA390532742NPC2c.137C>T (p.Pro46Leu)
c.105C>T (p.Thr35=)
c.202C>T
14g.74486382G>CCA390532743NPC2c.137C>G (p.Pro46Arg)
c.105C>G (p.Thr35=)
c.202C>G
14g.74486382G>TCA390532744NPC2c.137C>A (p.Pro46His)
c.105C>A (p.Thr35=)
c.202C>A
 gnomAD v4
14g.74486383G>ACA390532745NPC2c.136C>T (p.Pro46Ser)
c.104C>T (p.Thr35Ile)
c.201C>T
14g.74486383G>CCA390532746NPC2c.136C>G (p.Pro46Ala)
c.104C>G (p.Thr35Ser)
c.201C>G
14g.74486383G>TCA390532747NPC2c.136C>A (p.Pro46Thr)
c.104C>A (p.Thr35Asn)
c.201C>A
14g.74486384T>ACA390532749NPC2c.135A>T (p.Gln45His)
c.103A>T (p.Thr35Ser)
c.200A>T
14g.74486384T>CCA487220256NPC2c.135A>G (p.Gln45=)
c.103A>G (p.Thr35Ala)
c.200A>G
14g.74486384T>GCA390532748NPC2c.135A>C (p.Gln45His)
c.103A>C (p.Thr35Pro)
c.200A>C
 gnomAD v4
14g.74486385T>ACA390532750NPC2c.134A>T (p.Gln45Leu)
c.102A>T (p.Pro34=)
c.199A>T
14g.74486385T>CCA390532751NPC2c.134A>G (p.Gln45Arg)
c.102A>G (p.Pro34=)
c.199A>G
14g.74486385T>GCA390532752NPC2c.134A>C (p.Gln45Pro)
c.102A>C (p.Pro34=)
c.199A>C
14g.74486386G>ACA342106NPC2c.133C>T (p.Gln45Ter)
c.101C>T (p.Pro34Leu)
c.198C>T
 ClinVar dbSNP gnomAD v4
14g.74486386G>CCA390532753NPC2c.133C>G (p.Gln45Glu)
c.101C>G (p.Pro34Arg)
c.198C>G
14g.74486386G=CA2147067096NPC2c.133C= (p.Gln45=)
c.101C= (p.Pro34=)
c.198C=
14g.74486386G>TCA390532754NPC2c.133C>A (p.Gln45Lys)
c.101C>A (p.Pro34Gln)
c.198C>A
14g.74486387G>ACA263661891NPC2c.132C>T (p.Thr44=)
c.100C>T (p.Pro34Ser)
c.197C>T
 ClinVar dbSNP gnomAD v2
14g.74486387G>CCA487220271NPC2c.132C>G (p.Thr44=)
c.100C>G (p.Pro34Ala)
c.197C>G
14g.74486387G=CA2147067097NPC2c.132C= (p.Thr44=)
c.100C= (p.Pro34=)
c.197C=
14g.74486387G>TCA487220270NPC2c.132C>A (p.Thr44=)
c.100C>A (p.Pro34Thr)
c.197C>A
 ClinVar gnomAD v4
14g.74486387_74486389delinsGGTCA2147067098NPC2c.130_132delinsACC (p.Thr44=)
c.98_100delinsACC (p.His33=)
c.195_197delinsACC
14g.74486388G>ACA390532755NPC2c.131C>T (p.Thr44Ile)
c.99C>T (p.His33=)
c.196C>T
 gnomAD v4 COSMIC
14g.74486388G>CCA390532757NPC2c.131C>G (p.Thr44Ser)
c.99C>G (p.His33Gln)
c.196C>G
14g.74486388G>TCA390532756NPC2c.131C>A (p.Thr44Asn)
c.99C>A (p.His33Gln)
c.196C>A
 gnomAD v4
14g.74486389_74486390delCA2147067099NPC2c.130_131del (p.Thr44ProfsTer24)
c.98_99del (p.His33ProfsTer6)
c.195_196del
 ClinVar dbSNP
14g.74486389T>ACA390532758NPC2c.130A>T (p.Thr44Ser)
c.98A>T (p.His33Leu)
c.195A>T
14g.74486389T>CCA390532759NPC2c.130A>G (p.Thr44Ala)
c.98A>G (p.His33Arg)
c.195A>G
14g.74486389T>GCA390532760NPC2c.130A>C (p.Thr44Pro)
c.98A>C (p.His33Pro)
c.195A>C
 ClinVar dbSNP
14g.74486390G>ACA7268190NPC2c.129C>T (p.Pro43=)
c.97C>T (p.His33Tyr)
c.194C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74486390G>CCA487220286NPC2c.129C>G (p.Pro43=)
c.97C>G (p.His33Asp)
c.194C>G
14g.74486390G=CA2147067100NPC2c.129C= (p.Pro43=)
c.97C= (p.His33=)
c.194C=
14g.74486390G>TCA487220285NPC2c.129C>A (p.Pro43=)
c.97C>A (p.His33Asn)
c.194C>A
 ClinVar gnomAD v4
14g.74486390_74486393dupCA2625667787NPC2c.126_129dup (p.Thr44ProfsTer26)
c.94_97dup (p.His33ProfsTer8)
c.191_194dup
 gnomAD v4
14g.74486393delCA2697554017NPC2c.129del (p.Thr44ProfsTer6)
c.97del (p.His33ThrfsTer?)
c.194del
 ClinVar
14g.74486391G>ACA390532761NPC2c.128C>T (p.Pro43Leu)
c.96C>T (p.Pro32=)
c.193C>T
 gnomAD v4
14g.74486391G>CCA390532762NPC2c.128C>G (p.Pro43Arg)
c.96C>G (p.Pro32=)
c.193C>G
14g.74486391G>TCA390532763NPC2c.128C>A (p.Pro43His)
c.96C>A (p.Pro32=)
c.193C>A
14g.74486392G>ACA390532764NPC2c.127C>T (p.Pro43Ser)
c.95C>T (p.Pro32Leu)
c.192C>T
14g.74486392G>CCA390532765NPC2c.127C>G (p.Pro43Ala)
c.95C>G (p.Pro32Arg)
c.192C>G
 gnomAD v4
14g.74486392G>TCA390532766NPC2c.127C>A (p.Pro43Thr)
c.95C>A (p.Pro32His)
c.192C>A
14g.74486393G>ACA487220299NPC2c.126C>T (p.Cys42=)
c.94C>T (p.Pro32Ser)
c.191C>T
 gnomAD v4
14g.74486393G>CCA390532767NPC2c.126C>G (p.Cys42Trp)
c.94C>G (p.Pro32Ala)
c.191C>G
14g.74486393G>TCA390532768NPC2c.126C>A (p.Cys42Ter)
c.94C>A (p.Pro32Thr)
c.191C>A
 gnomAD v4
14g.74486394C>ACA390532771NPC2c.125G>T (p.Cys42Phe)
c.93G>T (p.Met31Ile)
c.190G>T
 gnomAD v4
14g.74486394C>GCA390532769NPC2c.125G>C (p.Cys42Ser)
c.93G>C (p.Met31Ile)
c.190G>C
14g.74486394C>TCA390532770NPC2c.125G>A (p.Cys42Tyr)
c.93G>A (p.Met31Ile)
c.190G>A
 gnomAD v4
14g.74486395A>CCA390532772NPC2c.124T>G (p.Cys42Gly)
c.92T>G (p.Met31Arg)
c.189T>G
14g.74486395A>GCA390532773NPC2c.124T>C (p.Cys42Arg)
c.92T>C (p.Met31Thr)
c.189T>C
14g.74486395A>TCA390532774NPC2c.124T>A (p.Cys42Ser)
c.92T>A (p.Met31Lys)
c.189T>A
 gnomAD v4
14g.74486396T>ACA487220313NPC2c.123A>T (p.Pro41=)
c.91A>T (p.Met31Leu)
c.188A>T
 gnomAD v4
14g.74486396T>CCA7268191NPC2c.123A>G (p.Pro41=)
c.91A>G (p.Met31Val)
c.188A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.74486396T>GCA487220318NPC2c.123A>C (p.Pro41=)
c.91A>C (p.Met31Leu)
c.188A>C
14g.74486396T=CA2147067101NPC2c.123A= (p.Pro41=)
c.91A= (p.Met31=)
c.188A=
14g.74486397G>ACA390532775NPC2c.122C>T (p.Pro41Leu)
c.90C>T (p.Pro30=)
c.187C>T
 gnomAD v4
14g.74486397G>CCA390532776NPC2c.122C>G (p.Pro41Arg)
c.90C>G (p.Pro30=)
c.187C>G
 gnomAD v4
14g.74486397G>TCA390532777NPC2c.122C>A (p.Pro41Gln)
c.90C>A (p.Pro30=)
c.187C>A
14g.74486398G>ACA390532780NPC2c.121C>T (p.Pro41Ser)
c.89C>T (p.Pro30Leu)
c.186C>T
14g.74486398G>CCA390532778NPC2c.121C>G (p.Pro41Ala)
c.89C>G (p.Pro30Arg)
c.186C>G
14g.74486398G>TCA390532779NPC2c.121C>A (p.Pro41Thr)
c.89C>A (p.Pro30His)
c.186C>A
14g.74486399G>ACA487220327NPC2c.120C>T (p.Ser40=)
c.88C>T (p.Pro30Ser)
c.185C>T
 ClinVar gnomAD v4
14g.74486399G>CCA390532781NPC2c.120C>G (p.Ser40Arg)
c.88C>G (p.Pro30Ala)
c.185C>G
14g.74486399G>TCA390532782NPC2c.120C>A (p.Ser40Arg)
c.88C>A (p.Pro30Thr)
c.185C>A
14g.74486400C>ACA390532783NPC2c.119G>T (p.Ser40Ile)
c.87G>T (p.Glu29Asp)
c.184G>T
 gnomAD v4
14g.74486400C>GCA390532784NPC2c.119G>C (p.Ser40Thr)
c.87G>C (p.Glu29Asp)
c.184G>C
14g.74486400C>TCA390532785NPC2c.119G>A (p.Ser40Asn)
c.87G>A (p.Glu29=)
c.184G>A
 gnomAD v4
14g.74486401T>ACA390532786NPC2c.118A>T (p.Ser40Cys)
c.86A>T (p.Glu29Val)
c.183A>T
14g.74486401T>CCA390532788NPC2c.118A>G (p.Ser40Gly)
c.86A>G (p.Glu29Gly)
c.183A>G
14g.74486401T>GCA390532787NPC2c.118A>C (p.Ser40Arg)
c.86A>C (p.Glu29Ala)
c.183A>C
 COSMIC
14g.74486402C>ACA487220334NPC2c.117G>T (p.Val39=)
c.85G>T (p.Glu29Ter)
c.182G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.74486402C=CA2147067102NPC2c.117G= (p.Val39=)
c.85G= (p.Glu29=)
c.182G=
14g.74486402C>GCA487220336NPC2c.117G>C (p.Val39=)
c.85G>C (p.Glu29Gln)
c.182G>C
14g.74486402C>TCA487220339NPC2c.117G>A (p.Val39=)
c.85G>A (p.Glu29Lys)
c.182G>A
 gnomAD v4
14g.74486404_74486405dupCA2582341761NPC2c.116_117dup (p.Ser40Ter)
c.84_85dup (p.Glu29ValfsTer?)
c.181_182dup
 ClinVar
14g.74486403A=CA2147067103NPC2c.116T= (p.Val39=)
c.84T= (p.Cys28=)
c.181T=
14g.74486403A>CCA390532789NPC2c.116T>G (p.Val39Gly)
c.84T>G (p.Cys28Trp)
c.181T>G
14g.74486403A>GCA390532790NPC2c.116T>C (p.Val39Ala)
c.84T>C (p.Cys28=)
c.181T>C
 dbSNP gnomAD v3 gnomAD v4
14g.74486403A>TCA390532791NPC2c.116T>A (p.Val39Glu)
c.84T>A (p.Cys28Ter)
c.181T>A
14g.74486404C>ACA390532792NPC2c.115G>T (p.Val39Leu)
c.83G>T (p.Cys28Phe)
c.180G>T
 gnomAD v4
14g.74486404C=CA2147067104NPC2c.115G= (p.Val39=)
c.83G= (p.Cys28=)
c.180G=
14g.74486404C>GCA390532793NPC2c.115G>C (p.Val39Leu)
c.83G>C (p.Cys28Ser)
c.180G>C
14g.74486404C>TCA340794NPC2c.115G>A (p.Val39Met)
c.83G>A (p.Cys28Tyr)
c.180G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74486405A>CCA390532794NPC2c.114T>G (p.Asn38Lys)
c.82T>G (p.Cys28Gly)
c.179T>G
14g.74486405A>GCA487220352NPC2c.114T>C (p.Asn38=)
c.82T>C (p.Cys28Arg)
c.179T>C
14g.74486405A>TCA390532795NPC2c.114T>A (p.Asn38Lys)
c.82T>A (p.Cys28Ser)
c.179T>A
14g.74486406T>ACA390532796NPC2c.113A>T (p.Asn38Ile)
c.81A>T (p.Glu27Asp)
c.178A>T
14g.74486406T>CCA390532797NPC2c.113A>G (p.Asn38Ser)
c.81A>G (p.Glu27=)
c.178A>G
14g.74486406T>GCA390532798NPC2c.113A>C (p.Asn38Thr)
c.81A>C (p.Glu27Asp)
c.178A>C
14g.74486407T>ACA390532799NPC2c.112A>T (p.Asn38Tyr)
c.80A>T (p.Glu27Val)
c.177A>T
14g.74486407T>CCA390532801NPC2c.112A>G (p.Asn38Asp)
c.80A>G (p.Glu27Gly)
c.177A>G
 gnomAD v4
14g.74486407T>GCA390532800NPC2c.112A>C (p.Asn38His)
c.80A>C (p.Glu27Ala)
c.177A>C
14g.74486408C>ACA487220362NPC2c.111G>T (p.Val37=)
c.79G>T (p.Glu27Ter)
c.176G>T
 gnomAD v4
14g.74486408C>GCA487220363NPC2c.111G>C (p.Val37=)
c.79G>C (p.Glu27Gln)
c.176G>C
14g.74486408C>TCA487220365NPC2c.111G>A (p.Val37=)
c.79G>A (p.Glu27Lys)
c.176G>A
14g.74486409_74486410delCA2625667810NPC2c.110_111del (p.Val37GlufsTer?)
c.78_79del (p.Ser26ArgfsTer3)
c.175_176del
 gnomAD v4
14g.74486409A=CA2147067105NPC2c.110T= (p.Val37=)
c.78T= (p.Ser26=)
c.175T=
14g.74486409A>CCA390532802NPC2c.110T>G (p.Val37Gly)
c.78T>G (p.Ser26Arg)
c.175T>G
14g.74486409A>GCA390532803NPC2c.110T>C (p.Val37Ala)
c.78T>C (p.Ser26=)
c.175T>C
 dbSNP gnomAD v3 gnomAD v4
14g.74486409A>TCA390532804NPC2c.110T>A (p.Val37Glu)
c.78T>A (p.Ser26Arg)
c.175T>A
14g.74486410C>ACA390532805NPC2c.109G>T (p.Val37Leu)
c.77G>T (p.Ser26Ile)
c.174G>T
14g.74486410C>GCA390532806NPC2c.109G>C (p.Val37Leu)
c.77G>C (p.Ser26Thr)
c.174G>C
14g.74486410C>TCA390532807NPC2c.109G>A (p.Val37Met)
c.77G>A (p.Ser26Asn)
c.174G>A
14g.74486411T>ACA390532808NPC2c.108A>T (p.Glu36Asp)
c.76A>T (p.Ser26Cys)
c.173A>T
14g.74486411T>CCA487220393NPC2c.108A>G (p.Glu36=)
c.76A>G (p.Ser26Gly)
c.173A>G
 ClinVar
14g.74486411T>GCA390532809NPC2c.108A>C (p.Glu36Asp)
c.76A>C (p.Ser26Arg)
c.173A>C
14g.74486412delCA2625667811NPC2c.108del (p.Val37Ter)
c.76del (p.Ser26ValfsTer?)
c.173del
 gnomAD v4
14g.74486412T>ACA390532810NPC2c.107A>T (p.Glu36Val)
c.75A>T (p.Gly25=)
c.172A>T
14g.74486412T>CCA390532811NPC2c.107A>G (p.Glu36Gly)
c.75A>G (p.Gly25=)
c.172A>G
14g.74486412T>GCA390532812NPC2c.107A>C (p.Glu36Ala)
c.75A>C (p.Gly25=)
c.172A>C
14g.74486413C>ACA390532813NPC2c.106G>T (p.Glu36Ter)
c.74G>T (p.Gly25Val)
c.171G>T
 ClinVar dbSNP gnomAD v4
14g.74486413C>GCA390532814NPC2c.106G>C (p.Glu36Gln)
c.74G>C (p.Gly25Ala)
c.171G>C
14g.74486413C>TCA390532815NPC2c.106G>A (p.Glu36Lys)
c.74G>A (p.Gly25Glu)
c.171G>A
 gnomAD v4
14g.74486414C>ACA390532817NPC2c.105G>T (p.Lys35Asn)
c.73G>T (p.Gly25Ter)
c.170G>T
 gnomAD v4
14g.74486414C>GCA390532816NPC2c.105G>C (p.Lys35Asn)
c.73G>C (p.Gly25Arg)
c.170G>C
14g.74486414C>TCA487220397NPC2c.105G>A (p.Lys35=)
c.73G>A (p.Gly25Arg)
c.170G>A
 gnomAD v4
14g.74486415T>ACA390532818NPC2c.104A>T (p.Lys35Met)
c.72A>T (p.Lys24Asn)
c.169A>T
 gnomAD v4
14g.74486415T>CCA390532819NPC2c.104A>G (p.Lys35Arg)
c.72A>G (p.Lys24=)
c.169A>G
 dbSNP gnomAD v3 gnomAD v4
14g.74486415T>GCA390532820NPC2c.104A>C (p.Lys35Thr)
c.72A>C (p.Lys24Asn)
c.169A>C
 gnomAD v4
14g.74486415T=CA2147067106NPC2c.104A= (p.Lys35=)
c.72A= (p.Lys24=)
c.169A=
14g.74486416T>ACA390532821NPC2c.103A>T (p.Lys35Ter)
c.71A>T (p.Lys24Ile)
c.168A>T
 gnomAD v4
14g.74486416T>CCA390532822NPC2c.103A>G (p.Lys35Glu)
c.71A>G (p.Lys24Arg)
c.168A>G
14g.74486416T>GCA390532823NPC2c.103A>C (p.Lys35Gln)
c.71A>C (p.Lys24Thr)
c.168A>C
14g.74486417T>ACA487220405NPC2c.102A>T (p.Ile34=)
c.70A>T (p.Lys24Ter)
c.167A>T
14g.74486417T>CCA390532824NPC2c.102A>G (p.Ile34Met)
c.70A>G (p.Lys24Glu)
c.167A>G
14g.74486417T>GCA487220407NPC2c.102A>C (p.Ile34=)
c.70A>C (p.Lys24Gln)
c.167A>C
14g.74486418A>CCA390532825NPC2c.101T>G (p.Ile34Arg)
c.69T>G (p.Tyr23Ter)
c.166T>G
 gnomAD v4
14g.74486418A>GCA390532826NPC2c.101T>C (p.Ile34Thr)
c.69T>C (p.Tyr23=)
c.166T>C
 gnomAD v4
14g.74486418A>TCA390532827NPC2c.101T>A (p.Ile34Lys)
c.69T>A (p.Tyr23Ter)
c.166T>A
14g.74486419T>ACA390532828NPC2c.100A>T (p.Ile34Leu)
c.68A>T (p.Tyr23Phe)
c.165A>T
14g.74486419T>CCA390532829NPC2c.100A>G (p.Ile34Val)
c.68A>G (p.Tyr23Cys)
c.165A>G
 ClinVar gnomAD v4
14g.74486419T>GCA390532830NPC2c.100A>C (p.Ile34Leu)
c.68A>C (p.Tyr23Ser)
c.165A>C
14g.74486420A>CCA487220409NPC2c.99T>G (p.Val33=)
c.67T>G (p.Tyr23Asp)
c.164T>G
 gnomAD v4
14g.74486420A>GCA487220410NPC2c.99T>C (p.Val33=)
c.67T>C (p.Tyr23His)
c.164T>C
14g.74486420A>TCA487220411NPC2c.99T>A (p.Val33=)
c.67T>A (p.Tyr23Asn)
c.164T>A
14g.74486421A>CCA390532831NPC2c.98T>G (p.Val33Gly)
c.66T>G (p.Ser22Arg)
c.163T>G
14g.74486421A>GCA390532833NPC2c.98T>C (p.Val33Ala)
c.66T>C (p.Ser22=)
c.163T>C
14g.74486421A>TCA390532832NPC2c.98T>A (p.Val33Asp)
c.66T>A (p.Ser22Arg)
c.163T>A
14g.74486422C>ACA390532834NPC2c.97G>T (p.Val33Phe)
c.65G>T (p.Ser22Ile)
c.162G>T
 gnomAD v4
14g.74486422C>GCA390532835NPC2c.97G>C (p.Val33Leu)
c.65G>C (p.Ser22Thr)
c.162G>C
14g.74486422C>TCA390532836NPC2c.97G>A (p.Val33Ile)
c.65G>A (p.Ser22Asn)
c.162G>A
 gnomAD v4
14g.74486423T>ACA487220412NPC2c.96A>T (p.Gly32=)
c.64A>T (p.Ser22Cys)
c.161A>T
14g.74486423T>CCA487220414NPC2c.96A>G (p.Gly32=)
c.64A>G (p.Ser22Gly)
c.161A>G
 gnomAD v4
14g.74486423T>GCA487220413NPC2c.96A>C (p.Gly32=)
c.64A>C (p.Ser22Arg)
c.161A>C
14g.74486424C>ACA390532837NPC2c.95G>T (p.Gly32Val)
c.63G>T (p.Trp21Cys)
c.160G>T
 gnomAD v4
14g.74486424C>GCA390532838NPC2c.95G>C (p.Gly32Ala)
c.63G>C (p.Trp21Cys)
c.160G>C
14g.74486424C>TCA390532839NPC2c.95G>A (p.Gly32Glu)
c.63G>A (p.Trp21Ter)
c.160G>A
 gnomAD v4
14g.74486425C>ACA390532840NPC2c.94G>T (p.Gly32Ter)
c.62G>T (p.Trp21Leu)
c.159G>T
 gnomAD v4
14g.74486425C>GCA390532841NPC2c.94G>C (p.Gly32Arg)
c.62G>C (p.Trp21Ser)
c.159G>C
14g.74486425C>TCA390532842NPC2c.94G>A (p.Gly32Arg)
c.62G>A (p.Trp21Ter)
c.159G>A
 ClinVar gnomAD v4
14g.74486426A>CCA390532843NPC2c.93T>G (p.Asp31Glu)
c.61T>G (p.Trp21Gly)
c.158T>G
14g.74486426A>GCA487220415NPC2c.93T>C (p.Asp31=)
c.61T>C (p.Trp21Arg)
c.158T>C
 gnomAD v4
14g.74486426A>TCA390532844NPC2c.93T>A (p.Asp31Glu)
c.61T>A (p.Trp21Arg)
c.158T>A
14g.74486427T>ACA390532848NPC2c.92A>T (p.Asp31Val)
c.60A>T (p.Gly20=)
c.157A>T
 gnomAD v4
14g.74486427T>CCA390532847NPC2c.92A>G (p.Asp31Gly)
c.60A>G (p.Gly20=)
c.157A>G
14g.74486427T>GCA390532846NPC2c.92A>C (p.Asp31Ala)
c.60A>C (p.Gly20=)
c.157A>C
14g.74486428C>ACA263661930NPC2c.91G>T (p.Asp31Tyr)
c.59G>T (p.Gly20Val)
c.156G>T
 dbSNP gnomAD v4
14g.74486428C=CA2147067107NPC2c.91G= (p.Asp31=)
c.59G= (p.Gly20=)
c.156G=
14g.74486428C>GCA390532849NPC2c.91G>C (p.Asp31His)
c.59G>C (p.Gly20Ala)
c.156G>C
14g.74486428C>TCA390532850NPC2c.91G>A (p.Asp31Asn)
c.59G>A (p.Gly20Glu)
c.156G>A
 gnomAD v4
14g.74486429delCA2580088734NPC2c.91del (p.Asp31MetfsTer4)
c.59del (p.Gly20AspfsTer?)
c.156del
 ClinVar
14g.74486429C>ACA487220759NPC2c.90G>T (p.Val30=)
c.58G>T (p.Gly20Ter)
c.155G>T
 gnomAD v4
14g.74486429C=CA2147067108NPC2c.90G= (p.Val30=)
c.58G= (p.Gly20=)
c.155G=
14g.74486429C>GCA487220761NPC2c.90G>C (p.Val30=)
c.58G>C (p.Gly20Arg)
c.155G>C
14g.74486429C>TCA7268192NPC2c.90G>A (p.Val30=)
c.58G>A (p.Gly20Arg)
c.155G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74486430A>CCA390532851NPC2c.89T>G (p.Val30Gly)
c.57T>G (p.Cys19Trp)
c.154T>G
14g.74486430A>GCA390532852NPC2c.89T>C (p.Val30Ala)
c.57T>C (p.Cys19=)
c.154T>C
14g.74486430A>TCA390532853NPC2c.89T>A (p.Val30Glu)
c.57T>A (p.Cys19Ter)
c.154T>A
14g.74486431C>ACA390532854NPC2c.88G>T (p.Val30Leu)
c.56G>T (p.Cys19Phe)
c.153G>T
14g.74486431C=CA2147067109NPC2c.88G= (p.Val30=)
c.56G= (p.Cys19=)
c.153G=
14g.74486431C>GCA390532855NPC2c.88G>C (p.Val30Leu)
c.56G>C (p.Cys19Ser)
c.153G>C
14g.74486431C>TCA249909NPC2c.88G>A (p.Val30Met)
c.56G>A (p.Cys19Tyr)
c.153G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74486432delCA2695219549NPC2c.87del (p.Val30TrpfsTer5)
c.55del (p.Cys19ValfsTer?)
c.152del
14g.74486432A>CCA487220776NPC2c.87T>G (p.Ser29=)
c.55T>G (p.Cys19Gly)
c.152T>G
14g.74486432A>GCA487220772NPC2c.87T>C (p.Ser29=)
c.55T>C (p.Cys19Arg)
c.152T>C
 gnomAD v4
14g.74486432A>TCA487220774NPC2c.87T>A (p.Ser29=)
c.55T>A (p.Cys19Ser)
c.152T>A

Number of alleles fetched