Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74493243A>CCA390376850NPC2c.32T>G (p.Leu11Arg)
c.147+788T>G
14g.74493243A>GCA390376856NPC2c.32T>C (p.Leu11Pro)
c.147+788T>C
14g.74493243A>TCA390376853NPC2c.32T>A (p.Leu11Gln)
c.147+788T>A
14g.74493244G>ACA7268217NPC2c.31C>T (p.Leu11=)
c.147+787C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74493244G>CCA390376861NPC2c.31C>G (p.Leu11Val)
c.147+787C>G
14g.74493244G=CA2147069938NPC2c.31C= (p.Leu11=)
c.147+787C=
14g.74493244G>TCA390376864NPC2c.31C>A (p.Leu11Met)
c.147+787C>A
14g.74493245G>ACA7268218NPC2c.30C>T (p.Leu10=)
c.147+786C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74493245G>CCA487154000NPC2c.30C>G (p.Leu10=)
c.147+786C>G
14g.74493245G=CA2147069939NPC2c.30C= (p.Leu10=)
c.147+786C=
14g.74493245G>TCA487154001NPC2c.30C>A (p.Leu10=)
c.147+786C>A
14g.74493246A>CCA390376868NPC2c.29T>G (p.Leu10Arg)
c.147+785T>G
14g.74493246A>GCA390376871NPC2c.29T>C (p.Leu10Pro)
c.147+785T>C
14g.74493246A>TCA390376873NPC2c.29T>A (p.Leu10His)
c.147+785T>A
14g.74493247G>ACA390376876NPC2c.28C>T (p.Leu10Phe)
c.147+784C>T
14g.74493247G>CCA390376878NPC2c.28C>G (p.Leu10Val)
c.147+784C>G
14g.74493247G>TCA390376880NPC2c.28C>A (p.Leu10Ile)
c.147+784C>A
14g.74493247_74493248delinsGCCA2147069940NPC2c.27_28delinsGC (p.Leu9=)
c.147+783_147+784delinsGC
14g.74493248delCA342110NPC2c.27del (p.Leu10SerfsTer25)
c.147+783del
 ClinVar dbSNP
14g.74493248C>ACA487154004NPC2c.27G>T (p.Leu9=)
c.147+783G>T
14g.74493248C=CA2147069941NPC2c.27G= (p.Leu9=)
c.147+783G=
14g.74493248C>GCA487154002NPC2c.27G>C (p.Leu9=)
c.147+783G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.74493248C>TCA487154003NPC2c.27G>A (p.Leu9=)
c.147+783G>A
 ClinVar dbSNP gnomAD v4
14g.74493249A>CCA390376883NPC2c.26T>G (p.Leu9Arg)
c.147+782T>G
14g.74493249A>GCA390376887NPC2c.26T>C (p.Leu9Pro)
c.147+782T>C
14g.74493249A>TCA390376885NPC2c.26T>A (p.Leu9Gln)
c.147+782T>A
14g.74493250G>ACA263573248NPC2c.25C>T (p.Leu9=)
c.147+781C>T
 ClinVar dbSNP gnomAD v4
14g.74493250G>CCA390376890NPC2c.25C>G (p.Leu9Val)
c.147+781C>G
 dbSNP
14g.74493250G=CA2147069942NPC2c.25C= (p.Leu9=)
c.147+781C=
14g.74493250G>TCA390376892NPC2c.25C>A (p.Leu9Met)
c.147+781C>A
14g.74493251G>ACA487154005NPC2c.24C>T (p.Phe8=)
c.147+780C>T
14g.74493251G>CCA390376895NPC2c.24C>G (p.Phe8Leu)
c.147+780C>G
 dbSNP gnomAD v4
14g.74493251G=CA2147069943NPC2c.24C= (p.Phe8=)
c.147+780C=
14g.74493251G>TCA390376897NPC2c.24C>A (p.Phe8Leu)
c.147+780C>A
14g.74493252A>CCA390376900NPC2c.23T>G (p.Phe8Cys)
c.147+779T>G
14g.74493252A>GCA390376903NPC2c.23T>C (p.Phe8Ser)
c.147+779T>C
14g.74493252A>TCA390376905NPC2c.23T>A (p.Phe8Tyr)
c.147+779T>A
14g.74493253A=CA2147069944NPC2c.22T= (p.Phe8=)
c.147+778T=
14g.74493253A>CCA390376907NPC2c.22T>G (p.Phe8Val)
c.147+778T>G
14g.74493253A>GCA390376909NPC2c.22T>C (p.Phe8Leu)
c.147+778T>C
 dbSNP gnomAD v3 gnomAD v4
14g.74493253A>TCA390376910NPC2c.22T>A (p.Phe8Ile)
c.147+778T>A
14g.74493254T>ACA487154006NPC2c.21A>T (p.Thr7=)
c.147+777A>T
 dbSNP gnomAD v2 gnomAD v4
14g.74493254T>CCA263573250NPC2c.21A>G (p.Thr7=)
c.147+777A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.74493254T>GCA487154007NPC2c.21A>C (p.Thr7=)
c.147+777A>C
14g.74493254T=CA2147069945NPC2c.21A= (p.Thr7=)
c.147+777A=
14g.74493255G>ACA390376922NPC2c.20C>T (p.Thr7Ile)
c.147+776C>T
 dbSNP gnomAD v4
14g.74493255G>CCA390376917NPC2c.20C>G (p.Thr7Arg)
c.147+776C>G
14g.74493255G=CA2147069946NPC2c.20C= (p.Thr7=)
c.147+776C=
14g.74493255G>TCA390376915NPC2c.20C>A (p.Thr7Lys)
c.147+776C>A
 dbSNP gnomAD v3 gnomAD v4
14g.74493256T>ACA390376927NPC2c.19A>T (p.Thr7Ser)
c.147+775A>T
14g.74493256T>CCA390376929NPC2c.19A>G (p.Thr7Ala)
c.147+775A>G
14g.74493256T>GCA390376931NPC2c.19A>C (p.Thr7Pro)
c.147+775A>C
14g.74493256_74493263delinsTAGCTGCCCA2147069947NPC2c.12_19delinsGGCAGCTA (p.Leu4=)
c.147+768_147+775delinsGGCAGCTA
14g.74493257A>CCA487154009NPC2c.18T>G (p.Ala6=)
c.147+774T>G
14g.74493257A>GCA487154010NPC2c.18T>C (p.Ala6=)
c.147+774T>C
14g.74493257A>TCA487154008NPC2c.18T>A (p.Ala6=)
c.147+774T>A
14g.74493259_74493265delCA708507668NPC2c.12_18del (p.Ala5HisfsTer28)
c.147+768_147+774del
 ClinVar dbSNP gnomAD v4
14g.74493258G>ACA390376934NPC2c.17C>T (p.Ala6Val)
c.147+773C>T
14g.74493258G>CCA390376936NPC2c.17C>G (p.Ala6Gly)
c.147+773C>G
14g.74493258G>TCA390376937NPC2c.17C>A (p.Ala6Asp)
c.147+773C>A
14g.74493259C>ACA390376940NPC2c.16G>T (p.Ala6Ser)
c.147+772G>T
14g.74493259C>GCA390376943NPC2c.16G>C (p.Ala6Pro)
c.147+772G>C
 gnomAD v4
14g.74493259C>TCA390376945NPC2c.16G>A (p.Ala6Thr)
c.147+772G>A
 gnomAD v4
14g.74493260T>ACA487154013NPC2c.15A>T (p.Ala5=)
c.147+771A>T
14g.74493260T>CCA487154011NPC2c.15A>G (p.Ala5=)
c.147+771A>G
 ClinVar
14g.74493260T>GCA487154012NPC2c.15A>C (p.Ala5=)
c.147+771A>C
14g.74493261G>ACA390376947NPC2c.14C>T (p.Ala5Val)
c.147+770C>T
 gnomAD v4 COSMIC
14g.74493261G>CCA390376949NPC2c.14C>G (p.Ala5Gly)
c.147+770C>G
14g.74493261G=CA2147069948NPC2c.14C= (p.Ala5=)
c.147+770C=
14g.74493261G>TCA390376952NPC2c.14C>A (p.Ala5Glu)
c.147+770C>A
 dbSNP gnomAD v2 gnomAD v4
14g.74493262C>ACA390376958NPC2c.13G>T (p.Ala5Ser)
c.147+769G>T
14g.74493262C>GCA390376960NPC2c.13G>C (p.Ala5Pro)
c.147+769G>C
14g.74493262C>TCA390376956NPC2c.13G>A (p.Ala5Thr)
c.147+769G>A
 ClinVar gnomAD v4
14g.74493263C>ACA487154014NPC2c.12G>T (p.Leu4=)
c.147+768G>T
14g.74493263C>GCA487154016NPC2c.12G>C (p.Leu4=)
c.147+768G>C
14g.74493263C>TCA487154015NPC2c.12G>A (p.Leu4=)
c.147+768G>A
 ClinVar dbSNP
14g.74493264A=CA2147069950NPC2c.11T= (p.Leu4=)
c.147+767T=
14g.74493264A>CCA390376966NPC2c.11T>G (p.Leu4Arg)
c.147+767T>G
14g.74493264A>GCA390376964NPC2c.11T>C (p.Leu4Pro)
c.147+767T>C
 dbSNP
14g.74493264A>TCA390376967NPC2c.11T>A (p.Leu4Gln)
c.147+767T>A
14g.74493264_74493265delinsAGCA2147069949NPC2c.10_11delinsCT (p.Leu4=)
c.147+766_147+767delinsCT
14g.74493265G>ACA263573253NPC2c.10C>T (p.Leu4=)
c.147+766C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.74493265G>CCA390376969NPC2c.10C>G (p.Leu4Val)
c.147+766C>G
14g.74493265G=CA2147069951NPC2c.10C= (p.Leu4=)
c.147+766C=
14g.74493265G>TCA390376972NPC2c.10C>A (p.Leu4Met)
c.147+766C>A
14g.74493266delCA7268219NPC2c.10del (p.Leu4TrpfsTer?)
c.147+766del
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74493266G>ACA487154017NPC2c.9C>T (p.Phe3=)
c.147+765C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.74493266G>CCA390376974NPC2c.9C>G (p.Phe3Leu)
c.147+765C>G
14g.74493266G=CA2147069952NPC2c.9C= (p.Phe3=)
c.147+765C=
14g.74493266G>TCA390376977NPC2c.9C>A (p.Phe3Leu)
c.147+765C>A
14g.74493267A>CCA390376986NPC2c.8T>G (p.Phe3Cys)
c.147+764T>G
14g.74493267A>GCA390376988NPC2c.8T>C (p.Phe3Ser)
c.147+764T>C
14g.74493267A>TCA390376990NPC2c.8T>A (p.Phe3Tyr)
c.147+764T>A
14g.74493268A>CCA390376994NPC2c.7T>G (p.Phe3Val)
c.147+763T>G
14g.74493268A>GCA390376995NPC2c.7T>C (p.Phe3Leu)
c.147+763T>C
14g.74493268A>TCA390376997NPC2c.7T>A (p.Phe3Ile)
c.147+763T>A
14g.74493269A=CA2147069953NPC2c.6T= (p.Arg2=)
c.147+762T=
14g.74493269A>CCA487154019NPC2c.6T>G (p.Arg2=)
c.147+762T>G
14g.74493269A>GCA487154018NPC2c.6T>C (p.Arg2=)
c.147+762T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493269A>TCA487154020NPC2c.6T>A (p.Arg2=)
c.147+762T>A
14g.74493270C>ACA390377000NPC2c.5G>T (p.Arg2Leu)
c.147+761G>T
14g.74493270C=CA2147069954NPC2c.5G= (p.Arg2=)
c.147+761G=
14g.74493270C>GCA390377003NPC2c.5G>C (p.Arg2Pro)
c.147+761G>C
 ClinVar gnomAD v4
14g.74493270C>TCA390377004NPC2c.5G>A (p.Arg2His)
c.147+761G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493271G>ACA390377007NPC2c.4C>T (p.Arg2Cys)
c.147+760C>T
 gnomAD v4 COSMIC
14g.74493271G>CCA390377006NPC2c.4C>G (p.Arg2Gly)
c.147+760C>G
14g.74493271G>TCA390377005NPC2c.4C>A (p.Arg2Ser)
c.147+760C>A
14g.74493272C>ACA7268220NPC2c.3G>T (p.Met1Ile)
c.147+759G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.74493272C=CA2147069955NPC2c.3G= (p.Met1=)
c.147+759G=
14g.74493272C>GCA269836NPC2c.3G>C (p.Met1Ile)
c.147+759G>C
 ClinVar dbSNP
14g.74493272C>TCA390377010NPC2c.3G>A (p.Met1Ile)
c.147+759G>A
 ClinVar dbSNP
14g.74493273A=CA2147069956NPC2c.2T= (p.Met1=)
c.147+758T=
14g.74493273A>CCA390377012NPC2c.2T>G (p.Met1Arg)
c.147+758T>G
 ClinVar
14g.74493273A>GCA390377014NPC2c.2T>C (p.Met1Thr)
c.147+758T>C
 ClinVar dbSNP
14g.74493273A>TCA390377017NPC2c.2T>A (p.Met1Lys)
c.147+758T>A
 ClinVar
14g.74493274T>ACA390377019NPC2c.1A>T (p.Met1Leu)
c.147+757A>T
14g.74493274T>CCA390377022NPC2c.1A>G (p.Met1Val)
c.147+757A>G
 ClinVar dbSNP
14g.74493274T>GCA390377024NPC2c.1A>C (p.Met1Leu)
c.147+757A>C
 gnomAD v4
14g.74493274T=CA2147069957NPC2c.1A= (p.Met1=)
c.147+757A=
14g.74493275C>ACA2575576664NPC2c.-1G>T (n.-1G>T)
c.147+756G>T
14g.74493275C=CA2147069958NPC2c.-1G= (n.-1G=)
c.147+756G=
14g.74493275C>GCA7268221NPC2c.-1G>C (n.-1G>C)
c.147+756G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74493275C>TCA2625667201NPC2c.-1G>A (n.-1G>A)
c.147+756G>A
 gnomAD v4
14g.74493276G>ACA263573258NPC2c.-2C>T (n.-2C>T)
c.147+755C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493276G>CCA2625667203NPC2c.-2C>G (n.-2C>G)
c.147+755C>G
 gnomAD v4
14g.74493276G=CA2147069959NPC2c.-2C= (n.-2C=)
c.147+755C=
14g.74493276G>TCA2625667204NPC2c.-2C>A (n.-2C>A)
c.147+755C>A
 gnomAD v4
14g.74493277C=CA2147069960NPC2c.-3G= (n.-3G=)
c.147+754G=
14g.74493277C>GCA7268222NPC2c.-3G>C (n.-3G>C)
c.147+754G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74493277C>TCA615021844NPC2c.-3G>A (n.-3G>A)
c.147+754G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493278G>ACA2147069962NPC2c.-4C>T (n.-4C>T)
c.147+753C>T
 dbSNP gnomAD v4
14g.74493278G=CA2147069961NPC2c.-4C= (n.-4C=)
c.147+753C=
14g.74493278G>TCA2625667205NPC2c.-4C>A (n.-4C>A)
c.147+753C>A
 gnomAD v4
14g.74493279G>ACA2625667206NPC2c.-5C>T (n.-5C>T)
c.147+752C>T
 gnomAD v4
14g.74493279G>CCA2625667207NPC2c.-5C>G (n.-5C>G)
c.147+752C>G
 gnomAD v4
14g.74493280A=CA2147069963NPC2c.-6T= (n.-6T=)
c.147+751T=
14g.74493280A>CCA2729984270NPC2c.-6T>G (n.-6T>G)
c.147+751T>G
 dbSNP
14g.74493280A>TCA2147069964NPC2c.-6T>A (n.-6T>A)
c.147+751T>A
 dbSNP
14g.74493281T>ACA615021846NPC2c.-7A>T (n.-7A>T)
c.147+750A>T
 dbSNP gnomAD v2
14g.74493281T>CCA615021848NPC2c.-7A>G (n.-7A>G)
c.147+750A>G
 dbSNP gnomAD v2 gnomAD v4
14g.74493281T=CA2147069965NPC2c.-7A= (n.-7A=)
c.147+750A=
14g.74493282A=CA2147069966NPC2c.-8T= (n.-8T=)
c.147+749T=
14g.74493282A>GCA7268223NPC2c.-8T>C (n.-8T>C)
c.147+749T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74493284C>TCA2625667208NPC2c.-10G>A (n.-10G>A)
c.147+747G>A
 gnomAD v4
14g.74493285_74493286insCCGCA2740097129NPC2c.-10_-9insGCG (n.-10_-9insGCG)
c.147+747_147+748insGCG
 ClinVar
14g.74493285G>ACA2147069968NPC2c.-11C>T (n.-11C>T)
c.147+746C>T
 dbSNP
14g.74493285G>CCA964719238NPC2c.-11C>G (n.-11C>G)
c.147+746C>G
 dbSNP gnomAD v3 gnomAD v4
14g.74493285G=CA2147069967NPC2c.-11C= (n.-11C=)
c.147+746C=
14g.74493286A>GCA2625667209NPC2c.-12T>C (n.-12T>C)
c.147+745T>C
 gnomAD v4
14g.74493288G=CA2147069969NPC2c.-14C= (n.-14C=)
c.147+743C=
14g.74493288G>TCA7268224NPC2c.-14C>A (n.-14C>A)
c.147+743C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74493289T>CCA2625667210NPC2c.-15A>G (n.-15A>G)
c.147+742A>G
 gnomAD v4
14g.74493289T>GCA2625667211NPC2c.-15A>C (n.-15A>C)
c.147+742A>C
 gnomAD v4
14g.74493290T>CCA7268225NPC2c.-16A>G (n.-16A>G)
c.147+741A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74493290T>GCA2625667212NPC2c.-16A>C (n.-16A>C)
c.147+741A>C
 gnomAD v4
14g.74493290T=CA2147069970NPC2c.-16A= (n.-16A=)
c.147+741A=
14g.74493291C=CA2147069971NPC2c.-17G= (n.-17G=)
c.147+740G=
14g.74493291C>TCA2147069972NPC2c.-17G>A (n.-17G>A)
c.147+740G>A
 dbSNP gnomAD v4
14g.74493292C=CA2147069973NPC2c.-18G= (n.-18G=)
c.147+739G=
14g.74493292C>TCA2147069974NPC2c.-18G>A (n.-18G>A)
c.147+739G>A
 dbSNP
14g.74493293A>TCA2625667213NPC2c.-19T>A (n.-19T>A)
c.147+738T>A
 gnomAD v4
14g.74493294A>CCA2575576665NPC2c.-20T>G (n.-20T>G)
c.147+737T>G
14g.74493295G>ACA2625667214NPC2c.-21C>T (n.-21C>T)
c.147+736C>T
 gnomAD v4
14g.74493296C>ACA2575576666NPC2c.-22G>T (n.-22G>T)
c.147+735G>T
 gnomAD v4
14g.74493296C>TCA2625667215NPC2c.-22G>A (n.-22G>A)
c.147+735G>A
 gnomAD v4
14g.74493297T>CCA2575576667NPC2c.-23A>G (n.-23A>G)
c.147+734A>G
14g.74493298C=CA2147069975NPC2c.-24G= (n.-24G=)
c.147+733G=
14g.74493298C>TCA7268226NPC2c.-24G>A (n.-24G>A)
c.147+733G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74493299G>ACA2625667218NPC2c.-25C>T (n.-25C>T)
c.147+732C>T
 gnomAD v4
14g.74493299G>CCA7268227NPC2c.-25C>G (n.-25C>G)
c.147+732C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74493299G=CA2147069976NPC2c.-25C= (n.-25C=)
c.147+732C=
14g.74493299G>TCA2625667216NPC2c.-25C>A (n.-25C>A)
c.147+732C>A
 gnomAD v4
14g.74493301delCA2625667217NPC2c.-25del (n.-25del)
c.147+732del
 gnomAD v4
14g.74493300G>CCA2575576668NPC2c.-26C>G (n.-26C>G)
c.147+731C>G
14g.74493300G=CA2147069977NPC2c.-26C= (n.-26C=)
c.147+731C=
14g.74493300G>TCA615021858NPC2c.-26C>A (n.-26C>A)
c.147+731C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493301G>CCA2625667219NPC2c.-27C>G (n.-27C>G)
c.147+730C>G
 gnomAD v4
14g.74493301G>TCA2575576669NPC2c.-27C>A (n.-27C>A)
c.147+730C>A
 gnomAD v4
14g.74493302A=CA2147069978NPC2c.-28T= (n.-28T=)
c.147+729T=
14g.74493302A>CCA2147069979NPC2c.-28T>G (n.-28T>G)
c.147+729T>G
 dbSNP gnomAD v4
14g.74493303A=CA2147069980NPC2c.-29T= (n.-29T=)
c.147+728T=
14g.74493303A>CCA615021861NPC2c.-29T>G (n.-29T>G)
c.147+728T>G
 dbSNP gnomAD v2 gnomAD v4
14g.74493303A>GCA263573277NPC2c.-29T>C (n.-29T>C)
c.147+728T>C
 dbSNP gnomAD v3 gnomAD v4
14g.74493305G>ACA7268228NPC2c.-31C>T (n.-31C>T)
c.147+726C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74493305G=CA2147069981NPC2c.-31C= (n.-31C=)
c.147+726C=
14g.74493306A=CA2147069982NPC2c.-32T= (n.-32T=)
c.147+725T=
14g.74493306A>CCA708507751NPC2c.-32T>G (n.-32T>G)
c.147+725T>G
 dbSNP
14g.74493307A>GCA2625667220NPC2c.-33T>C (n.-33T>C)
c.147+724T>C
 gnomAD v4
14g.74493308G>ACA7268229NPC2c.-34C>T (n.-34C>T)
c.147+723C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74493308G=CA2147069983NPC2c.-34C= (n.-34C=)
c.147+723C=
14g.74493309C=CA2147069984NPC2c.-35G= (n.-35G=)
c.147+722G=
14g.74493309C>GCA615021871NPC2c.-35G>C (n.-35G>C)
c.147+722G>C
 dbSNP gnomAD v2 gnomAD v4
14g.74493310A>CCA2625667221NPC2c.-36T>G (n.-36T>G)
c.147+721T>G
 gnomAD v4
14g.74493311G>ACA7268230NPC2c.-37C>T (n.-37C>T)
c.147+720C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74493311G>CCA615021872NPC2c.-37C>G (n.-37C>G)
c.147+720C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493311G=CA2147069985NPC2c.-37C= (n.-37C=)
c.147+720C=
14g.74493312C>ACA2625667222NPC2c.-38G>T (n.-38G>T)
c.147+719G>T
 gnomAD v4
14g.74493312C=CA2147069986NPC2c.-38G= (n.-38G=)
c.147+719G=
14g.74493312C>GCA7268231NPC2c.-38G>C (n.-38G>C)
c.147+719G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74493312C>TCA615021874NPC2c.-38G>A (n.-38G>A)
c.147+719G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493313G>ACA615021876NPC2c.-39C>T (n.-39C>T)
c.147+718C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493313G>CCA2625667223NPC2c.-39C>G (n.-39C>G)
c.147+718C>G
 gnomAD v4
14g.74493313G=CA2147069987NPC2c.-39C= (n.-39C=)
c.147+718C=
14g.74493313G>TCA964719252NPC2c.-39C>A (n.-39C>A)
c.147+718C>A
 dbSNP gnomAD v3 gnomAD v4
14g.74493314G>ACA2625667224NPC2c.-40C>T (n.-40C>T)
c.147+717C>T
 gnomAD v4
14g.74493315C>ACA2147069989NPC2c.-41G>T (n.-41G>T)
c.147+716G>T
 dbSNP
14g.74493315C=CA2147069988NPC2c.-41G= (n.-41G=)
c.147+716G=
14g.74493316C>ACA615021880NPC2c.-42G>T (n.-42G>T)
c.147+715G>T
 dbSNP gnomAD v2 gnomAD v4
14g.74493316C=CA2147069990NPC2c.-42G= (n.-42G=)
c.147+715G=
14g.74493316C>TCA2729903665NPC2c.-42G>A (n.-42G>A)
c.147+715G>A
 dbSNP
14g.74493317G>ACA7268233NPC2c.-43C>T (n.-43C>T)
c.147+714C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74493317G>CCA708507769NPC2c.-43C>G (n.-43C>G)
c.147+714C>G
 dbSNP
14g.74493317G=CA2147069991NPC2c.-43C= (n.-43C=)
c.147+714C=
14g.74493317G>TCA7268232NPC2c.-43C>A (n.-43C>A)
c.147+714C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74493318C=CA2147069992NPC2c.-44G= (n.-44G=)
c.147+713G=
14g.74493318C>TCA7268234NPC2c.-44G>A (n.-44G>A)
c.147+713G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74493319C=CA2147069993NPC2c.-45G= (n.-45G=)
c.147+712G=
14g.74493319C>TCA263573289NPC2c.-45G>A (n.-45G>A)
c.147+712G>A
 dbSNP gnomAD v3 gnomAD v4
14g.74493320C=CA2147069994NPC2c.-46G= (n.-46G=)
c.147+711G=
14g.74493320C>GCA2575576670NPC2c.-46G>C (n.-46G>C)
c.147+711G>C
 gnomAD v4
14g.74493320C>TCA2147069995NPC2c.-46G>A (n.-46G>A)
c.147+711G>A
 dbSNP gnomAD v4
14g.74493321G>ACA615021885NPC2c.-47C>T (n.-47C>T)
c.147+710C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493321G=CA2147069996NPC2c.-47C= (n.-47C=)
c.147+710C=
14g.74493321G>TCA2625667225NPC2c.-47C>A (n.-47C>A)
c.147+710C>A
 gnomAD v4
14g.74493322C>GCA2802155239NPC2c.-48G>C (n.-48G>C)
c.147+709G>C
14g.74493323G>ACA2147069998NPC2c.-49C>T (n.-49C>T)
c.147+708C>T
 dbSNP gnomAD v4
14g.74493323G>CCA2625667226NPC2c.-49C>G (n.-49C>G)
c.147+708C>G
 gnomAD v4
14g.74493323G=CA2147069997NPC2c.-49C= (n.-49C=)
c.147+708C=
14g.74493324G>ACA2625667227NPC2c.-50C>T (n.-50C>T)
c.147+707C>T
 gnomAD v4
14g.74493325T>CCA263573291NPC2c.-51A>G (n.-51A>G)
c.147+706A>G
 dbSNP
14g.74493325T>GCA2625667228NPC2c.-51A>C (n.-51A>C)
c.147+706A>C
 gnomAD v4
14g.74493325T=CA2147069999NPC2c.-51A= (n.-51A=)
c.147+706A=
14g.74493326C>ACA2625667229NPC2c.-52G>T (n.-52G>T)
c.147+705G>T
 gnomAD v4
14g.74493327A=CA2147070000NPC2c.-53T= (n.-53T=)
c.147+704T=
14g.74493327A>CCA708507778NPC2c.-53T>G (n.-53T>G)
c.147+704T>G
 dbSNP gnomAD v4
14g.74493328C>GCA2625667230NPC2c.-54G>C (n.-54G>C)
c.147+703G>C
 gnomAD v4
14g.74493329A=CA2147070001NPC2c.-55T= (n.-55T=)
c.147+702T=
14g.74493329A>CCA2575576671NPC2c.-55T>G (n.-55T>G)
c.147+702T>G
 gnomAD v4
14g.74493329A>GCA2147070002NPC2c.-55T>C (n.-55T>C)
c.147+702T>C
 dbSNP gnomAD v4
14g.74493330A>GCA2625667231NPC2c.-56T>C (n.-56T>C)
c.147+701T>C
 gnomAD v4
14g.74493331G>ACA615021886NPC2c.-57C>T (n.-57C>T)
c.147+700C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493331G=CA2147070003NPC2c.-57C= (n.-57C=)
c.147+700C=
14g.74493332A>TCA2575576672NPC2c.-58T>A (n.-58T>A)
c.147+699T>A
14g.74493333C>GCA2625667232NPC2c.-59G>C (n.-59G>C)
c.147+698G>C
 gnomAD v4
14g.74493335A=CA2147070004NPC2c.-61T= (n.-61T=)
c.147+696T=
14g.74493335A>CCA708507780NPC2c.-61T>G (n.-61T>G)
c.147+696T>G
 dbSNP gnomAD v3 gnomAD v4
14g.74493337C>ACA2147070006NPC2c.-63G>T (n.-63G>T)
c.147+694G>T
 dbSNP
14g.74493337C=CA2147070005NPC2c.-63G= (n.-63G=)
c.147+694G=
14g.74493337C>TCA263573294NPC2c.-63G>A (n.-63G>A)
c.147+694G>A
 dbSNP
14g.74493340G>ACA2625667233NPC2c.-63-3C>T (n.-63-3C>T)
c.-66C>T (n.-66C>T)
c.147+691C>T
 gnomAD v4
14g.74493340G=CA2147070007NPC2c.-63-3C= (n.-63-3C=)
c.-66C= (n.-66C=)
c.147+691C=
14g.74493340G>TCA615021889NPC2c.-63-3C>A (n.-63-3C>A)
c.-66C>A (n.-66C>A)
c.147+691C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493342C>ACA10646042NPC2c.-63-5G>T (n.-63-5G>T)
c.-68G>T (n.-68G>T)
c.147+689G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493342C=CA2147070008NPC2c.-63-5G= (n.-63-5G=)
c.-68G= (n.-68G=)
c.147+689G=
14g.74493342C>GCA263573296NPC2c.-63-5G>C (n.-63-5G>C)
c.-68G>C (n.-68G>C)
c.147+689G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493342C>TCA263573298NPC2c.-63-5G>A (n.-63-5G>A)
c.-68G>A (n.-68G>A)
c.147+689G>A
 dbSNP gnomAD v3 gnomAD v4
14g.74493343G>CCA615021894NPC2c.-63-6C>G (n.-63-6C>G)
c.-69C>G (n.-69C>G)
c.147+688C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74493343G=CA2147070009NPC2c.-63-6C= (n.-63-6C=)
c.-69C= (n.-69C=)
c.147+688C=
14g.74493343G>TCA2625667234NPC2c.-63-6C>A (n.-63-6C>A)
c.-69C>A (n.-69C>A)
c.147+688C>A
 gnomAD v4
14g.74493346dupCA708507802NPC2c.-63-6dup (n.-63-6dup)
c.-69dup (n.-69dup)
c.147+688dup
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched