Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23538610dupCA658824813NPC1c.2978dup (p.Asp994ArgfsTer13)
c.2056dup
n.611dup
n.321dup
c.3029dup (p.Asp1011ArgfsTer13)
c.2564dup (p.Asp856ArgfsTer13)
 ClinVar dbSNP
18g.23538609_23538610dupCA2641271627NPC1c.2977_2978dup (p.Asp994GlufsTer4)
c.2055_2056dup
n.610_611dup
n.320_321dup
c.3028_3029dup (p.Asp1011GlufsTer4)
c.2563_2564dup (p.Asp856GlufsTer4)
 ClinVar gnomAD v4
18g.23538610delCA8912898NPC1c.2978del (p.Gly993GlufsTer4)
c.2056del
n.611del
n.321del
c.3029del (p.Gly1010GlufsTer4)
c.2564del (p.Gly855GlufsTer4)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538609C>ACA115895NPC1c.2974G>T (p.Gly992Trp)
c.2052G>T
n.607G>T
n.317G>T
c.3025G>T (p.Gly1009Trp)
c.2560G>T (p.Gly854Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538609C=CA2290165371NPC1c.2974G= (p.Gly992=)
c.2052G=
n.607G=
n.317G=
c.3025G= (p.Gly1009=)
c.2560G= (p.Gly854=)
18g.23538609C>GCA340034NPC1c.2974G>C (p.Gly992Arg)
c.2052G>C
n.607G>C
n.317G>C
c.3025G>C (p.Gly1009Arg)
c.2560G>C (p.Gly854Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538609C>TCA341663NPC1c.2974G>A (p.Gly992Arg)
c.2052G>A
n.607G>A
n.317G>A
c.3025G>A (p.Gly1009Arg)
c.2560G>A (p.Gly854Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538609_23538610delinsATCA658799013NPC1c.2973_2974delinsAT (p.Gly992Trp)
c.2051_2052delinsAT
n.606_607delinsAT
n.316_317delinsAT
c.3024_3025delinsAT (p.Gly1009Trp)
c.2559_2560delinsAT (p.Gly854Trp)
 ClinVar dbSNP
18g.23538609_23538610delinsCCCA2290165369NPC1c.2973_2974delinsGG (p.Gln991=)
c.2051_2052delinsGG
n.606_607delinsGG
n.316_317delinsGG
c.3024_3025delinsGG (p.Gln1008=)
c.2559_2560delinsGG (p.Gln853=)
18g.23538609_23538611delinsCCTCA2290165370NPC1c.2972_2974delinsAGG (p.Gln991=)
c.2050_2052delinsAGG
n.605_607delinsAGG
n.315_317delinsAGG
c.3023_3025delinsAGG (p.Gln1008=)
c.2558_2560delinsAGG (p.Gln853=)
18g.23538609_23538610insTCA2695227435NPC1c.2973_2974insA (p.Gly992ArgfsTer15)
c.2051_2052insA
n.606_607insA
n.316_317insA
c.3024_3025insA (p.Gly1009ArgfsTer15)
c.2559_2560insA (p.Gly854ArgfsTer15)
18g.23538610C>ACA8912901NPC1c.2973G>T (p.Gln991His)
c.2051G>T
n.606G>T
n.316G>T
c.3024G>T (p.Gln1008His)
c.2559G>T (p.Gln853His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538610C=CA2290165373NPC1c.2973G= (p.Gln991=)
c.2051G=
n.606G=
n.316G=
c.3024G= (p.Gln1008=)
c.2559G= (p.Gln853=)
18g.23538610C>GCA297080743NPC1c.2973G>C (p.Gln991His)
c.2051G>C
n.606G>C
n.316G>C
c.3024G>C (p.Gln1008His)
c.2559G>C (p.Gln853His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23538610C>TCA8912902NPC1c.2973G>A (p.Gln991=)
c.2051G>A
n.606G>A
n.316G>A
c.3024G>A (p.Gln1008=)
c.2559G>A (p.Gln853=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538610_23538611delCA274149NPC1c.2972_2973del (p.Gln991ArgfsTer15)
c.2050_2051del
n.605_606del
n.315_316del
c.3023_3024del (p.Gln1008ArgfsTer15)
c.2558_2559del (p.Gln853ArgfsTer15)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538610_23538611delinsCTCA2290165372NPC1c.2972_2973delinsAG (p.Gln991=)
c.2050_2051delinsAG
n.605_606delinsAG
n.315_316delinsAG
c.3023_3024delinsAG (p.Gln1008=)
c.2558_2559delinsAG (p.Gln853=)
18g.23538611delCA628677789NPC1c.2972del (p.Gln991ArgfsTer6)
c.2050del
n.605del
n.315del
c.3023del (p.Gln1008ArgfsTer6)
c.2558del (p.Gln853ArgfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23538611T>ACA401792223NPC1c.2972A>T (p.Gln991Leu)
c.2050A>T
n.605A>T
n.315A>T
c.3023A>T (p.Gln1008Leu)
c.2558A>T (p.Gln853Leu)
18g.23538611T>CCA297080746NPC1c.2972A>G (p.Gln991Arg)
c.2050A>G
n.605A>G
n.315A>G
c.3023A>G (p.Gln1008Arg)
c.2558A>G (p.Gln853Arg)
 dbSNP gnomAD v4
18g.23538611T>GCA401792224NPC1c.2972A>C (p.Gln991Pro)
c.2050A>C
n.605A>C
n.315A>C
c.3023A>C (p.Gln1008Pro)
c.2558A>C (p.Gln853Pro)
18g.23538611T=CA2290165374NPC1c.2972A= (p.Gln991=)
c.2050A=
n.605A=
n.315A=
c.3023A= (p.Gln1008=)
c.2558A= (p.Gln853=)
18g.23538612G>ACA401792225NPC1c.2971C>T (p.Gln991Ter)
c.2049C>T
n.604C>T
n.314C>T
c.3022C>T (p.Gln1008Ter)
c.2557C>T (p.Gln853Ter)
18g.23538612G>CCA401792226NPC1c.2971C>G (p.Gln991Glu)
c.2049C>G
n.604C>G
n.314C>G
c.3022C>G (p.Gln1008Glu)
c.2557C>G (p.Gln853Glu)
18g.23538612G>TCA401792227NPC1c.2971C>A (p.Gln991Lys)
c.2049C>A
n.604C>A
n.314C>A
c.3022C>A (p.Gln1008Lys)
c.2557C>A (p.Gln853Lys)
18g.23538613A>CCA503322483NPC1c.2970T>G (p.Pro990=)
c.2048T>G
n.603T>G
n.313T>G
c.3021T>G (p.Pro1007=)
c.2556T>G (p.Pro852=)
18g.23538613A>GCA503322485NPC1c.2970T>C (p.Pro990=)
c.2048T>C
n.603T>C
n.313T>C
c.3021T>C (p.Pro1007=)
c.2556T>C (p.Pro852=)
18g.23538613A>TCA503322484NPC1c.2970T>A (p.Pro990=)
c.2048T>A
n.603T>A
n.313T>A
c.3021T>A (p.Pro1007=)
c.2556T>A (p.Pro852=)
18g.23538614G>ACA401792228NPC1c.2969C>T (p.Pro990Leu)
c.2047C>T
n.602C>T
n.312C>T
c.3020C>T (p.Pro1007Leu)
c.2555C>T (p.Pro852Leu)
 gnomAD v4
18g.23538614G>CCA401792229NPC1c.2969C>G (p.Pro990Arg)
c.2047C>G
n.602C>G
n.312C>G
c.3020C>G (p.Pro1007Arg)
c.2555C>G (p.Pro852Arg)
18g.23538614G>TCA401792230NPC1c.2969C>A (p.Pro990His)
c.2047C>A
n.602C>A
n.312C>A
c.3020C>A (p.Pro1007His)
c.2555C>A (p.Pro852His)
18g.23538615G>ACA401792231NPC1c.2968C>T (p.Pro990Ser)
c.2046C>T
n.601C>T
n.311C>T
c.3019C>T (p.Pro1007Ser)
c.2554C>T (p.Pro852Ser)
18g.23538615G>CCA401792232NPC1c.2968C>G (p.Pro990Ala)
c.2046C>G
n.601C>G
n.311C>G
c.3019C>G (p.Pro1007Ala)
c.2554C>G (p.Pro852Ala)
18g.23538615G>TCA401792233NPC1c.2968C>A (p.Pro990Thr)
c.2046C>A
n.601C>A
n.311C>A
c.3019C>A (p.Pro1007Thr)
c.2554C>A (p.Pro852Thr)
 gnomAD v4
18g.23538616C>ACA401792235NPC1c.2967G>T (p.Arg989Ser)
c.2045G>T
n.600G>T
n.310G>T
c.3018G>T (p.Arg1006Ser)
c.2553G>T (p.Arg851Ser)
18g.23538616C>GCA401792234NPC1c.2967G>C (p.Arg989Ser)
c.2045G>C
n.600G>C
n.310G>C
c.3018G>C (p.Arg1006Ser)
c.2553G>C (p.Arg851Ser)
18g.23538616C>TCA503322486NPC1c.2967G>A (p.Arg989=)
c.2045G>A
n.600G>A
n.310G>A
c.3018G>A (p.Arg1006=)
c.2553G>A (p.Arg851=)
 ClinVar dbSNP
18g.23538616_23538618delinsCCTCA2290165375NPC1c.2965_2967delinsAGG (p.Arg989=)
c.2043_2045delinsAGG
n.598_600delinsAGG
n.308_310delinsAGG
c.3016_3018delinsAGG (p.Arg1006=)
c.2551_2553delinsAGG (p.Arg851=)
18g.23538617_23538619delCA913014987NPC1c.2965_2967del (p.Arg989del)
c.2043_2045del
n.598_600del
n.308_310del
c.3016_3018del (p.Arg1006del)
c.2551_2553del (p.Arg851del)
18g.23538617C>ACA401792236NPC1c.2966G>T (p.Arg989Met)
c.2044G>T
n.599G>T
n.309G>T
c.3017G>T (p.Arg1006Met)
c.2552G>T (p.Arg851Met)
18g.23538617C>GCA401792238NPC1c.2966G>C (p.Arg989Thr)
c.2044G>C
n.599G>C
n.309G>C
c.3017G>C (p.Arg1006Thr)
c.2552G>C (p.Arg851Thr)
18g.23538617C>TCA401792237NPC1c.2966G>A (p.Arg989Lys)
c.2044G>A
n.599G>A
n.309G>A
c.3017G>A (p.Arg1006Lys)
c.2552G>A (p.Arg851Lys)
 gnomAD v4
18g.23538619_23538620delCA658824814NPC1c.2965_2966del (p.Arg989AlafsTer17)
c.2043_2044del
n.598_599del
n.308_309del
c.3016_3017del (p.Arg1006AlafsTer17)
c.2551_2552del (p.Arg851AlafsTer17)
 ClinVar dbSNP gnomAD v4
18g.23538618T>ACA401792239NPC1c.2965A>T (p.Arg989Trp)
c.2043A>T
n.598A>T
n.308A>T
c.3016A>T (p.Arg1006Trp)
c.2551A>T (p.Arg851Trp)
18g.23538618T>CCA401792240NPC1c.2965A>G (p.Arg989Gly)
c.2043A>G
n.598A>G
n.308A>G
c.3016A>G (p.Arg1006Gly)
c.2551A>G (p.Arg851Gly)
18g.23538618T>GCA503322487NPC1c.2965A>C (p.Arg989=)
c.2043A>C
n.598A>C
n.308A>C
c.3016A>C (p.Arg1006=)
c.2551A>C (p.Arg851=)
 gnomAD v4
18g.23538619C>ACA401792241NPC1c.2964G>T (p.Gln988His)
c.2042G>T
n.597G>T
n.307G>T
c.3015G>T (p.Gln1005His)
c.2550G>T (p.Gln850His)
18g.23538619C>GCA401792242NPC1c.2964G>C (p.Gln988His)
c.2042G>C
n.597G>C
n.307G>C
c.3015G>C (p.Gln1005His)
c.2550G>C (p.Gln850His)
18g.23538619C>TCA503322488NPC1c.2964G>A (p.Gln988=)
c.2042G>A
n.597G>A
n.307G>A
c.3015G>A (p.Gln1005=)
c.2550G>A (p.Gln850=)
 gnomAD v4
18g.23538620T>ACA401792243NPC1c.2963A>T (p.Gln988Leu)
c.2041A>T
n.596A>T
n.306A>T
c.3014A>T (p.Gln1005Leu)
c.2549A>T (p.Gln850Leu)

Number of alleles fetched