Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7561009delCA2587958391PNPLA6c.3817-5del (n.3817-5del)
c.3703-5del (n.3703-5del)
c.3847-5del (n.3847-5del)
c.3622-5del (n.3622-5del)
n.175-5del
c.186-5del
 gnomAD v4
19g.7561007C>ACA2587958392PNPLA6c.3817-7C>A (n.3817-7C>A)
c.3703-7C>A (n.3703-7C>A)
c.3847-7C>A (n.3847-7C>A)
c.3622-7C>A (n.3622-7C>A)
n.175-7C>A
c.186-7C>A
 gnomAD v4
19g.7561007C=CA2320979506PNPLA6c.3817-7C= (n.3817-7C=)
c.3703-7C= (n.3703-7C=)
c.3847-7C= (n.3847-7C=)
c.3622-7C= (n.3622-7C=)
n.175-7C=
c.186-7C=
19g.7561007C>TCA631325829PNPLA6c.3817-7C>T (n.3817-7C>T)
c.3703-7C>T (n.3703-7C>T)
c.3847-7C>T (n.3847-7C>T)
c.3622-7C>T (n.3622-7C>T)
n.175-7C>T
c.186-7C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7561008C>ACA2587958393PNPLA6c.3817-6C>A (n.3817-6C>A)
c.3703-6C>A (n.3703-6C>A)
c.3847-6C>A (n.3847-6C>A)
c.3622-6C>A (n.3622-6C>A)
n.175-6C>A
c.186-6C>A
 gnomAD v4
19g.7561008C>GCA2573054846PNPLA6c.3817-6C>G (n.3817-6C>G)
c.3703-6C>G (n.3703-6C>G)
c.3847-6C>G (n.3847-6C>G)
c.3622-6C>G (n.3622-6C>G)
n.175-6C>G
c.186-6C>G
 ClinVar dbSNP gnomAD v4
19g.7561008C>TCA2587958394PNPLA6c.3817-6C>T (n.3817-6C>T)
c.3703-6C>T (n.3703-6C>T)
c.3847-6C>T (n.3847-6C>T)
c.3622-6C>T (n.3622-6C>T)
n.175-6C>T
c.186-6C>T
 gnomAD v4
19g.7561009C>ACA2587958395PNPLA6c.3817-5C>A (n.3817-5C>A)
c.3703-5C>A (n.3703-5C>A)
c.3847-5C>A (n.3847-5C>A)
c.3622-5C>A (n.3622-5C>A)
n.175-5C>A
c.186-5C>A
 gnomAD v4
19g.7561009C=CA2320979507PNPLA6c.3817-5C= (n.3817-5C=)
c.3703-5C= (n.3703-5C=)
c.3847-5C= (n.3847-5C=)
c.3622-5C= (n.3622-5C=)
n.175-5C=
c.186-5C=
19g.7561009C>TCA631462700PNPLA6c.3817-5C>T (n.3817-5C>T)
c.3703-5C>T (n.3703-5C>T)
c.3847-5C>T (n.3847-5C>T)
c.3622-5C>T (n.3622-5C>T)
n.175-5C>T
c.186-5C>T
 dbSNP gnomAD v2 gnomAD v4
19g.7561012A>CCA403138174PNPLA6c.3817-2A>C (n.3817-2A>C)
c.3703-2A>C (n.3703-2A>C)
c.3847-2A>C (n.3847-2A>C)
c.3622-2A>C (n.3622-2A>C)
n.175-2A>C
c.186-2A>C
19g.7561012A>GCA403138176PNPLA6c.3817-2A>G (n.3817-2A>G)
c.3703-2A>G (n.3703-2A>G)
c.3847-2A>G (n.3847-2A>G)
c.3622-2A>G (n.3622-2A>G)
n.175-2A>G
c.186-2A>G
 gnomAD v4
19g.7561012A>TCA403138178PNPLA6c.3817-2A>T (n.3817-2A>T)
c.3703-2A>T (n.3703-2A>T)
c.3847-2A>T (n.3847-2A>T)
c.3622-2A>T (n.3622-2A>T)
n.175-2A>T
c.186-2A>T
19g.7561013G>ACA403138181PNPLA6c.3817-1G>A (n.3817-1G>A)
c.3703-1G>A (n.3703-1G>A)
c.3847-1G>A (n.3847-1G>A)
c.3622-1G>A (n.3622-1G>A)
n.175-1G>A
c.186-1G>A
19g.7561013G>CCA403138184PNPLA6c.3817-1G>C (n.3817-1G>C)
c.3703-1G>C (n.3703-1G>C)
c.3847-1G>C (n.3847-1G>C)
c.3622-1G>C (n.3622-1G>C)
n.175-1G>C
c.186-1G>C
19g.7561013G>TCA403138188PNPLA6c.3817-1G>T (n.3817-1G>T)
c.3703-1G>T (n.3703-1G>T)
c.3847-1G>T (n.3847-1G>T)
c.3622-1G>T (n.3622-1G>T)
n.175-1G>T
c.186-1G>T
19g.7561014G>ACA403138190PNPLA6c.3817G>A (p.Val1273Met)
c.3703G>A (p.Val1235Met)
c.3847G>A (p.Val1283Met)
c.3622G>A (p.Val1208Met)
n.175G>A
c.186G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7561014G>CCA403138193PNPLA6c.3817G>C (p.Val1273Leu)
c.3703G>C (p.Val1235Leu)
c.3847G>C (p.Val1283Leu)
c.3622G>C (p.Val1208Leu)
n.175G>C
c.186G>C
19g.7561014G=CA2320979508PNPLA6c.3817G= (p.Val1273=)
c.3703G= (p.Val1235=)
c.3847G= (p.Val1283=)
c.3622G= (p.Val1208=)
n.175G=
c.186G=
19g.7561014G>TCA403138194PNPLA6c.3817G>T (p.Val1273Leu)
c.3703G>T (p.Val1235Leu)
c.3847G>T (p.Val1283Leu)
c.3622G>T (p.Val1208Leu)
n.175G>T
c.186G>T
 dbSNP gnomAD v2
19g.7561015T>ACA403138202PNPLA6c.3818T>A (p.Val1273Glu)
c.3704T>A (p.Val1235Glu)
c.3848T>A (p.Val1283Glu)
c.3623T>A (p.Val1208Glu)
n.176T>A
c.187T>A
19g.7561015T>CCA403138199PNPLA6c.3818T>C (p.Val1273Ala)
c.3704T>C (p.Val1235Ala)
c.3848T>C (p.Val1283Ala)
c.3623T>C (p.Val1208Ala)
n.176T>C
c.187T>C
19g.7561015T>GCA403138197PNPLA6c.3818T>G (p.Val1273Gly)
c.3704T>G (p.Val1235Gly)
c.3848T>G (p.Val1283Gly)
c.3623T>G (p.Val1208Gly)
n.176T>G
c.187T>G
19g.7561016G>ACA505404293PNPLA6c.3819G>A (p.Val1273=)
c.3705G>A (p.Val1235=)
c.3849G>A (p.Val1283=)
c.3624G>A (p.Val1208=)
n.177G>A
c.188G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7561016G>CCA505404294PNPLA6c.3819G>C (p.Val1273=)
c.3705G>C (p.Val1235=)
c.3849G>C (p.Val1283=)
c.3624G>C (p.Val1208=)
n.177G>C
c.188G>C
19g.7561016G=CA2320979509PNPLA6c.3819G= (p.Val1273=)
c.3705G= (p.Val1235=)
c.3849G= (p.Val1283=)
c.3624G= (p.Val1208=)
n.177G=
c.188G=
19g.7561016G>TCA505404295PNPLA6c.3819G>T (p.Val1273=)
c.3705G>T (p.Val1235=)
c.3849G>T (p.Val1283=)
c.3624G>T (p.Val1208=)
n.177G>T
c.188G>T
19g.7561017C>ACA403138208PNPLA6c.3820C>A (p.Leu1274Ile)
c.3706C>A (p.Leu1236Ile)
c.3850C>A (p.Leu1284Ile)
c.3625C>A (p.Leu1209Ile)
n.178C>A
c.189C>A
 gnomAD v4
19g.7561017C>GCA403138218PNPLA6c.3820C>G (p.Leu1274Val)
c.3706C>G (p.Leu1236Val)
c.3850C>G (p.Leu1284Val)
c.3625C>G (p.Leu1209Val)
n.178C>G
c.189C>G
19g.7561017C>TCA403138220PNPLA6c.3820C>T (p.Leu1274Phe)
c.3706C>T (p.Leu1236Phe)
c.3850C>T (p.Leu1284Phe)
c.3625C>T (p.Leu1209Phe)
n.178C>T
c.189C>T
 gnomAD v4
19g.7561018T>ACA403138222PNPLA6c.3821T>A (p.Leu1274His)
c.3707T>A (p.Leu1236His)
c.3851T>A (p.Leu1284His)
c.3626T>A (p.Leu1209His)
n.179T>A
c.190T>A
19g.7561018T>CCA403138225PNPLA6c.3821T>C (p.Leu1274Pro)
c.3707T>C (p.Leu1236Pro)
c.3851T>C (p.Leu1284Pro)
c.3626T>C (p.Leu1209Pro)
n.179T>C
c.190T>C
19g.7561018T>GCA403138227PNPLA6c.3821T>G (p.Leu1274Arg)
c.3707T>G (p.Leu1236Arg)
c.3851T>G (p.Leu1284Arg)
c.3626T>G (p.Leu1209Arg)
n.179T>G
c.190T>G
19g.7561019T>ACA505404296PNPLA6c.3822T>A (p.Leu1274=)
c.3708T>A (p.Leu1236=)
c.3852T>A (p.Leu1284=)
c.3627T>A (p.Leu1209=)
n.180T>A
c.191T>A
19g.7561019T>CCA505404297PNPLA6c.3822T>C (p.Leu1274=)
c.3708T>C (p.Leu1236=)
c.3852T>C (p.Leu1284=)
c.3627T>C (p.Leu1209=)
n.180T>C
c.191T>C
19g.7561019T>GCA505404298PNPLA6c.3822T>G (p.Leu1274=)
c.3708T>G (p.Leu1236=)
c.3852T>G (p.Leu1284=)
c.3627T>G (p.Leu1209=)
n.180T>G
c.191T>G
19g.7561020G>ACA304883009PNPLA6c.3823G>A (p.Ala1275Thr)
c.3709G>A (p.Ala1237Thr)
c.3853G>A (p.Ala1285Thr)
c.3628G>A (p.Ala1210Thr)
n.181G>A
c.192G>A
 ClinVar dbSNP gnomAD v4
19g.7561020G>CCA304883011PNPLA6c.3823G>C (p.Ala1275Pro)
c.3709G>C (p.Ala1237Pro)
c.3853G>C (p.Ala1285Pro)
c.3628G>C (p.Ala1210Pro)
n.181G>C
c.192G>C
 dbSNP
19g.7561020G=CA2320979510PNPLA6c.3823G= (p.Ala1275=)
c.3709G= (p.Ala1237=)
c.3853G= (p.Ala1285=)
c.3628G= (p.Ala1210=)
n.181G=
c.192G=
19g.7561020G>TCA403138234PNPLA6c.3823G>T (p.Ala1275Ser)
c.3709G>T (p.Ala1237Ser)
c.3853G>T (p.Ala1285Ser)
c.3628G>T (p.Ala1210Ser)
n.181G>T
c.192G>T
19g.7561021C>ACA403138239PNPLA6c.3824C>A (p.Ala1275Asp)
c.3710C>A (p.Ala1237Asp)
c.3854C>A (p.Ala1285Asp)
c.3629C>A (p.Ala1210Asp)
n.182C>A
c.193C>A
 gnomAD v4
19g.7561021C>GCA403138242PNPLA6c.3824C>G (p.Ala1275Gly)
c.3710C>G (p.Ala1237Gly)
c.3854C>G (p.Ala1285Gly)
c.3629C>G (p.Ala1210Gly)
n.182C>G
c.193C>G
19g.7561021C>TCA403138244PNPLA6c.3824C>T (p.Ala1275Val)
c.3710C>T (p.Ala1237Val)
c.3854C>T (p.Ala1285Val)
c.3629C>T (p.Ala1210Val)
n.182C>T
c.193C>T
19g.7561022C>ACA505404300PNPLA6c.3825C>A (p.Ala1275=)
c.3711C>A (p.Ala1237=)
c.3855C>A (p.Ala1285=)
c.3630C>A (p.Ala1210=)
n.183C>A
c.194C>A
19g.7561022C>GCA505404301PNPLA6c.3825C>G (p.Ala1275=)
c.3711C>G (p.Ala1237=)
c.3855C>G (p.Ala1285=)
c.3630C>G (p.Ala1210=)
n.183C>G
c.194C>G
19g.7561022C>TCA505404299PNPLA6c.3825C>T (p.Ala1275=)
c.3711C>T (p.Ala1237=)
c.3855C>T (p.Ala1285=)
c.3630C>T (p.Ala1210=)
n.183C>T
c.194C>T
 gnomAD v4 COSMIC COSMIC
19g.7561023T>ACA403138252PNPLA6c.3826T>A (p.Phe1276Ile)
c.3712T>A (p.Phe1238Ile)
c.3856T>A (p.Phe1286Ile)
c.3631T>A (p.Phe1211Ile)
n.184T>A
c.195T>A
 dbSNP gnomAD v3 gnomAD v4
19g.7561023T>CCA403138250PNPLA6c.3826T>C (p.Phe1276Leu)
c.3712T>C (p.Phe1238Leu)
c.3856T>C (p.Phe1286Leu)
c.3631T>C (p.Phe1211Leu)
n.184T>C
c.195T>C
19g.7561023T>GCA403138248PNPLA6c.3826T>G (p.Phe1276Val)
c.3712T>G (p.Phe1238Val)
c.3856T>G (p.Phe1286Val)
c.3631T>G (p.Phe1211Val)
n.184T>G
c.195T>G
19g.7561023T=CA2320979511PNPLA6c.3826T= (p.Phe1276=)
c.3712T= (p.Phe1238=)
c.3856T= (p.Phe1286=)
c.3631T= (p.Phe1211=)
n.184T=
c.195T=
19g.7561024T>ACA403138256PNPLA6c.3827T>A (p.Phe1276Tyr)
c.3713T>A (p.Phe1238Tyr)
c.3857T>A (p.Phe1286Tyr)
c.3632T>A (p.Phe1211Tyr)
n.185T>A
c.196T>A
19g.7561024T>CCA403138266PNPLA6c.3827T>C (p.Phe1276Ser)
c.3713T>C (p.Phe1238Ser)
c.3857T>C (p.Phe1286Ser)
c.3632T>C (p.Phe1211Ser)
n.185T>C
c.196T>C
19g.7561024T>GCA403138260PNPLA6c.3827T>G (p.Phe1276Cys)
c.3713T>G (p.Phe1238Cys)
c.3857T>G (p.Phe1286Cys)
c.3632T>G (p.Phe1211Cys)
n.185T>G
c.196T>G
19g.7561025C>ACA403138269PNPLA6c.3828C>A (p.Phe1276Leu)
c.3714C>A (p.Phe1238Leu)
c.3858C>A (p.Phe1286Leu)
c.3633C>A (p.Phe1211Leu)
n.186C>A
c.197C>A
19g.7561025C>GCA403138274PNPLA6c.3828C>G (p.Phe1276Leu)
c.3714C>G (p.Phe1238Leu)
c.3858C>G (p.Phe1286Leu)
c.3633C>G (p.Phe1211Leu)
n.186C>G
c.197C>G
19g.7561025C>TCA505404302PNPLA6c.3828C>T (p.Phe1276=)
c.3714C>T (p.Phe1238=)
c.3858C>T (p.Phe1286=)
c.3633C>T (p.Phe1211=)
n.186C>T
c.197C>T
 ClinVar
19g.7561026C>ACA403138284PNPLA6c.3829C>A (p.Pro1277Thr)
c.3715C>A (p.Pro1239Thr)
c.3859C>A (p.Pro1287Thr)
c.3634C>A (p.Pro1212Thr)
n.187C>A
c.198C>A
 dbSNP gnomAD v3 gnomAD v4
19g.7561026C=CA2320979512PNPLA6c.3829C= (p.Pro1277=)
c.3715C= (p.Pro1239=)
c.3859C= (p.Pro1287=)
c.3634C= (p.Pro1212=)
n.187C=
c.198C=
19g.7561026C>GCA403138287PNPLA6c.3829C>G (p.Pro1277Ala)
c.3715C>G (p.Pro1239Ala)
c.3859C>G (p.Pro1287Ala)
c.3634C>G (p.Pro1212Ala)
n.187C>G
c.198C>G
19g.7561026C>TCA9140611PNPLA6c.3829C>T (p.Pro1277Ser)
c.3715C>T (p.Pro1239Ser)
c.3859C>T (p.Pro1287Ser)
c.3634C>T (p.Pro1212Ser)
n.187C>T
c.198C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7561027C>ACA403138292PNPLA6c.3830C>A (p.Pro1277Gln)
c.3716C>A (p.Pro1239Gln)
c.3860C>A (p.Pro1287Gln)
c.3635C>A (p.Pro1212Gln)
n.188C>A
c.199C>A
19g.7561027C>GCA403138295PNPLA6c.3830C>G (p.Pro1277Arg)
c.3716C>G (p.Pro1239Arg)
c.3860C>G (p.Pro1287Arg)
c.3635C>G (p.Pro1212Arg)
n.188C>G
c.199C>G
19g.7561027C>TCA403138299PNPLA6c.3830C>T (p.Pro1277Leu)
c.3716C>T (p.Pro1239Leu)
c.3860C>T (p.Pro1287Leu)
c.3635C>T (p.Pro1212Leu)
n.188C>T
c.199C>T
19g.7561028A>CCA505404303PNPLA6c.3831A>C (p.Pro1277=)
c.3717A>C (p.Pro1239=)
c.3861A>C (p.Pro1287=)
c.3636A>C (p.Pro1212=)
n.189A>C
c.200A>C
19g.7561028A>GCA505404304PNPLA6c.3831A>G (p.Pro1277=)
c.3717A>G (p.Pro1239=)
c.3861A>G (p.Pro1287=)
c.3636A>G (p.Pro1212=)
n.189A>G
c.200A>G
19g.7561028A>TCA505404305PNPLA6c.3831A>T (p.Pro1277=)
c.3717A>T (p.Pro1239=)
c.3861A>T (p.Pro1287=)
c.3636A>T (p.Pro1212=)
n.189A>T
c.200A>T
19g.7561029A>CCA403138303PNPLA6c.3832A>C (p.Ser1278Arg)
c.3718A>C (p.Ser1240Arg)
c.3862A>C (p.Ser1288Arg)
c.3637A>C (p.Ser1213Arg)
n.190A>C
c.201A>C
19g.7561029A>GCA403138315PNPLA6c.3832A>G (p.Ser1278Gly)
c.3718A>G (p.Ser1240Gly)
c.3862A>G (p.Ser1288Gly)
c.3637A>G (p.Ser1213Gly)
n.190A>G
c.201A>G
 ClinVar dbSNP
19g.7561029A>TCA403138318PNPLA6c.3832A>T (p.Ser1278Cys)
c.3718A>T (p.Ser1240Cys)
c.3862A>T (p.Ser1288Cys)
c.3637A>T (p.Ser1213Cys)
n.190A>T
c.201A>T
19g.7561030G>ACA9140612PNPLA6c.3833G>A (p.Ser1278Asn)
c.3719G>A (p.Ser1240Asn)
c.3863G>A (p.Ser1288Asn)
c.3638G>A (p.Ser1213Asn)
n.191G>A
c.202G>A
 dbSNP ExAC gnomAD v2
19g.7561030G>CCA403138321PNPLA6c.3833G>C (p.Ser1278Thr)
c.3719G>C (p.Ser1240Thr)
c.3863G>C (p.Ser1288Thr)
c.3638G>C (p.Ser1213Thr)
n.191G>C
c.202G>C
 gnomAD v4
19g.7561030G=CA2320979513PNPLA6c.3833G= (p.Ser1278=)
c.3719G= (p.Ser1240=)
c.3863G= (p.Ser1288=)
c.3638G= (p.Ser1213=)
n.191G=
c.202G=
19g.7561030G>TCA403138324PNPLA6c.3833G>T (p.Ser1278Ile)
c.3719G>T (p.Ser1240Ile)
c.3863G>T (p.Ser1288Ile)
c.3638G>T (p.Ser1213Ile)
n.191G>T
c.202G>T
19g.7561033_7561038delCA2587958396PNPLA6c.3836_3841del (p.Ser1279_Gly1280del)
c.3722_3727del (p.Ser1241_Gly1242del)
c.3866_3871del (p.Ser1289_Gly1290del)
c.3641_3646del (p.Ser1214_Gly1215del)
n.194_199del
c.205_210del
 gnomAD v4
19g.7561031C>ACA403138326PNPLA6c.3834C>A (p.Ser1278Arg)
c.3720C>A (p.Ser1240Arg)
c.3864C>A (p.Ser1288Arg)
c.3639C>A (p.Ser1213Arg)
n.192C>A
c.203C>A
19g.7561031C>GCA403138329PNPLA6c.3834C>G (p.Ser1278Arg)
c.3720C>G (p.Ser1240Arg)
c.3864C>G (p.Ser1288Arg)
c.3639C>G (p.Ser1213Arg)
n.192C>G
c.203C>G
19g.7561031C>TCA505404306PNPLA6c.3834C>T (p.Ser1278=)
c.3720C>T (p.Ser1240=)
c.3864C>T (p.Ser1288=)
c.3639C>T (p.Ser1213=)
n.192C>T
c.203C>T
19g.7561032T>ACA403138332PNPLA6c.3835T>A (p.Ser1279Thr)
c.3721T>A (p.Ser1241Thr)
c.3865T>A (p.Ser1289Thr)
c.3640T>A (p.Ser1214Thr)
n.193T>A
c.204T>A
19g.7561032T>CCA403138334PNPLA6c.3835T>C (p.Ser1279Pro)
c.3721T>C (p.Ser1241Pro)
c.3865T>C (p.Ser1289Pro)
c.3640T>C (p.Ser1214Pro)
n.193T>C
c.204T>C
 COSMIC COSMIC
19g.7561032T>GCA403138337PNPLA6c.3835T>G (p.Ser1279Ala)
c.3721T>G (p.Ser1241Ala)
c.3865T>G (p.Ser1289Ala)
c.3640T>G (p.Ser1214Ala)
n.193T>G
c.204T>G
19g.7561033C>ACA403138341PNPLA6c.3836C>A (p.Ser1279Tyr)
c.3722C>A (p.Ser1241Tyr)
c.3866C>A (p.Ser1289Tyr)
c.3641C>A (p.Ser1214Tyr)
n.194C>A
c.205C>A
19g.7561033C>GCA403138342PNPLA6c.3836C>G (p.Ser1279Cys)
c.3722C>G (p.Ser1241Cys)
c.3866C>G (p.Ser1289Cys)
c.3641C>G (p.Ser1214Cys)
n.194C>G
c.205C>G
19g.7561033C>TCA403138345PNPLA6c.3836C>T (p.Ser1279Phe)
c.3722C>T (p.Ser1241Phe)
c.3866C>T (p.Ser1289Phe)
c.3641C>T (p.Ser1214Phe)
n.194C>T
c.205C>T
19g.7561034T>ACA505404307PNPLA6c.3837T>A (p.Ser1279=)
c.3723T>A (p.Ser1241=)
c.3867T>A (p.Ser1289=)
c.3642T>A (p.Ser1214=)
n.195T>A
c.206T>A
19g.7561034T>CCA505404308PNPLA6c.3837T>C (p.Ser1279=)
c.3723T>C (p.Ser1241=)
c.3867T>C (p.Ser1289=)
c.3642T>C (p.Ser1214=)
n.195T>C
c.206T>C
19g.7561034T>GCA505404309PNPLA6c.3837T>G (p.Ser1279=)
c.3723T>G (p.Ser1241=)
c.3867T>G (p.Ser1289=)
c.3642T>G (p.Ser1214=)
n.195T>G
c.206T>G
19g.7561035G>ACA403138346PNPLA6c.3838G>A (p.Gly1280Ser)
c.3724G>A (p.Gly1242Ser)
c.3868G>A (p.Gly1290Ser)
c.3643G>A (p.Gly1215Ser)
n.196G>A
c.207G>A
 dbSNP gnomAD v2 gnomAD v4
19g.7561035G>CCA403138348PNPLA6c.3838G>C (p.Gly1280Arg)
c.3724G>C (p.Gly1242Arg)
c.3868G>C (p.Gly1290Arg)
c.3643G>C (p.Gly1215Arg)
n.196G>C
c.207G>C
19g.7561035G=CA2320979514PNPLA6c.3838G= (p.Gly1280=)
c.3724G= (p.Gly1242=)
c.3868G= (p.Gly1290=)
c.3643G= (p.Gly1215=)
n.196G=
c.207G=
19g.7561035G>TCA403138350PNPLA6c.3838G>T (p.Gly1280Cys)
c.3724G>T (p.Gly1242Cys)
c.3868G>T (p.Gly1290Cys)
c.3643G>T (p.Gly1215Cys)
n.196G>T
c.207G>T
19g.7561036G>ACA403138354PNPLA6c.3839G>A (p.Gly1280Asp)
c.3725G>A (p.Gly1242Asp)
c.3869G>A (p.Gly1290Asp)
c.3644G>A (p.Gly1215Asp)
n.197G>A
c.208G>A
19g.7561036G>CCA403138355PNPLA6c.3839G>C (p.Gly1280Ala)
c.3725G>C (p.Gly1242Ala)
c.3869G>C (p.Gly1290Ala)
c.3644G>C (p.Gly1215Ala)
n.197G>C
c.208G>C
19g.7561036G>TCA403138353PNPLA6c.3839G>T (p.Gly1280Val)
c.3725G>T (p.Gly1242Val)
c.3869G>T (p.Gly1290Val)
c.3644G>T (p.Gly1215Val)
n.197G>T
c.208G>T
19g.7561037C>ACA505404311PNPLA6c.3840C>A (p.Gly1280=)
c.3726C>A (p.Gly1242=)
c.3870C>A (p.Gly1290=)
c.3645C>A (p.Gly1215=)
n.198C>A
c.209C>A
19g.7561037C>GCA505404312PNPLA6c.3840C>G (p.Gly1280=)
c.3726C>G (p.Gly1242=)
c.3870C>G (p.Gly1290=)
c.3645C>G (p.Gly1215=)
n.198C>G
c.209C>G
19g.7561037C>TCA505404310PNPLA6c.3840C>T (p.Gly1280=)
c.3726C>T (p.Gly1242=)
c.3870C>T (p.Gly1290=)
c.3645C>T (p.Gly1215=)
n.198C>T
c.209C>T
19g.7561038T>ACA403138356PNPLA6c.3841T>A (p.Phe1281Ile)
c.3727T>A (p.Phe1243Ile)
c.3871T>A (p.Phe1291Ile)
c.3646T>A (p.Phe1216Ile)
n.199T>A
c.210T>A
19g.7561038T>CCA403138357PNPLA6c.3841T>C (p.Phe1281Leu)
c.3727T>C (p.Phe1243Leu)
c.3871T>C (p.Phe1291Leu)
c.3646T>C (p.Phe1216Leu)
n.199T>C
c.210T>C
19g.7561038T>GCA403138359PNPLA6c.3841T>G (p.Phe1281Val)
c.3727T>G (p.Phe1243Val)
c.3871T>G (p.Phe1291Val)
c.3646T>G (p.Phe1216Val)
n.199T>G
c.210T>G
19g.7561039T>ACA403138361PNPLA6c.3842T>A (p.Phe1281Tyr)
c.3728T>A (p.Phe1243Tyr)
c.3872T>A (p.Phe1291Tyr)
c.3647T>A (p.Phe1216Tyr)
n.200T>A
c.211T>A
19g.7561039T>CCA403138362PNPLA6c.3842T>C (p.Phe1281Ser)
c.3728T>C (p.Phe1243Ser)
c.3872T>C (p.Phe1291Ser)
c.3647T>C (p.Phe1216Ser)
n.200T>C
c.211T>C
19g.7561039T>GCA403138363PNPLA6c.3842T>G (p.Phe1281Cys)
c.3728T>G (p.Phe1243Cys)
c.3872T>G (p.Phe1291Cys)
c.3647T>G (p.Phe1216Cys)
n.200T>G
c.211T>G
19g.7561040C>ACA403138366PNPLA6c.3843C>A (p.Phe1281Leu)
c.3729C>A (p.Phe1243Leu)
c.3873C>A (p.Phe1291Leu)
c.3648C>A (p.Phe1216Leu)
n.201C>A
c.212C>A
19g.7561040C>GCA403138364PNPLA6c.3843C>G (p.Phe1281Leu)
c.3729C>G (p.Phe1243Leu)
c.3873C>G (p.Phe1291Leu)
c.3648C>G (p.Phe1216Leu)
n.201C>G
c.212C>G
19g.7561040C>TCA505404313PNPLA6c.3843C>T (p.Phe1281=)
c.3729C>T (p.Phe1243=)
c.3873C>T (p.Phe1291=)
c.3648C>T (p.Phe1216=)
n.201C>T
c.212C>T
 COSMIC COSMIC
19g.7561041A>CCA403138370PNPLA6c.3844A>C (p.Thr1282Pro)
c.3730A>C (p.Thr1244Pro)
c.3874A>C (p.Thr1292Pro)
c.3649A>C (p.Thr1217Pro)
n.202A>C
c.213A>C
19g.7561041A>GCA403138372PNPLA6c.3844A>G (p.Thr1282Ala)
c.3730A>G (p.Thr1244Ala)
c.3874A>G (p.Thr1292Ala)
c.3649A>G (p.Thr1217Ala)
n.202A>G
c.213A>G
19g.7561041A>TCA403138374PNPLA6c.3844A>T (p.Thr1282Ser)
c.3730A>T (p.Thr1244Ser)
c.3874A>T (p.Thr1292Ser)
c.3649A>T (p.Thr1217Ser)
n.202A>T
c.213A>T
19g.7561042C>ACA403138385PNPLA6c.3845C>A (p.Thr1282Asn)
c.3731C>A (p.Thr1244Asn)
c.3875C>A (p.Thr1292Asn)
c.3650C>A (p.Thr1217Asn)
n.203C>A
c.214C>A
19g.7561042C=CA2320979515PNPLA6c.3845C= (p.Thr1282=)
c.3731C= (p.Thr1244=)
c.3875C= (p.Thr1292=)
c.3650C= (p.Thr1217=)
n.203C=
c.214C=
19g.7561042C>GCA304883014PNPLA6c.3845C>G (p.Thr1282Ser)
c.3731C>G (p.Thr1244Ser)
c.3875C>G (p.Thr1292Ser)
c.3650C>G (p.Thr1217Ser)
n.203C>G
c.214C>G
 dbSNP
19g.7561042C>TCA403138395PNPLA6c.3845C>T (p.Thr1282Ile)
c.3731C>T (p.Thr1244Ile)
c.3875C>T (p.Thr1292Ile)
c.3650C>T (p.Thr1217Ile)
n.203C>T
c.214C>T
19g.7561043T>ACA505404315PNPLA6c.3846T>A (p.Thr1282=)
c.3732T>A (p.Thr1244=)
c.3876T>A (p.Thr1292=)
c.3651T>A (p.Thr1217=)
n.204T>A
c.215T>A
19g.7561043T>CCA505404316PNPLA6c.3846T>C (p.Thr1282=)
c.3732T>C (p.Thr1244=)
c.3876T>C (p.Thr1292=)
c.3651T>C (p.Thr1217=)
n.204T>C
c.215T>C
 gnomAD v4
19g.7561043T>GCA505404314PNPLA6c.3846T>G (p.Thr1282=)
c.3732T>G (p.Thr1244=)
c.3876T>G (p.Thr1292=)
c.3651T>G (p.Thr1217=)
n.204T>G
c.215T>G
19g.7561044G>ACA403138397PNPLA6c.3847G>A (p.Asp1283Asn)
c.3733G>A (p.Asp1245Asn)
c.3877G>A (p.Asp1293Asn)
c.3652G>A (p.Asp1218Asn)
n.205G>A
c.216G>A
19g.7561044G>CCA403138403PNPLA6c.3847G>C (p.Asp1283His)
c.3733G>C (p.Asp1245His)
c.3877G>C (p.Asp1293His)
c.3652G>C (p.Asp1218His)
n.205G>C
c.216G>C
19g.7561044G>TCA403138400PNPLA6c.3847G>T (p.Asp1283Tyr)
c.3733G>T (p.Asp1245Tyr)
c.3877G>T (p.Asp1293Tyr)
c.3652G>T (p.Asp1218Tyr)
n.205G>T
c.216G>T
19g.7561045A>CCA403138408PNPLA6c.3848A>C (p.Asp1283Ala)
c.3734A>C (p.Asp1245Ala)
c.3878A>C (p.Asp1293Ala)
c.3653A>C (p.Asp1218Ala)
n.206A>C
c.217A>C
19g.7561045A>GCA403138410PNPLA6c.3848A>G (p.Asp1283Gly)
c.3734A>G (p.Asp1245Gly)
c.3878A>G (p.Asp1293Gly)
c.3653A>G (p.Asp1218Gly)
n.206A>G
c.217A>G
19g.7561045A>TCA403138412PNPLA6c.3848A>T (p.Asp1283Val)
c.3734A>T (p.Asp1245Val)
c.3878A>T (p.Asp1293Val)
c.3653A>T (p.Asp1218Val)
n.206A>T
c.217A>T
19g.7561046C>ACA403138414PNPLA6c.3849C>A (p.Asp1283Glu)
c.3735C>A (p.Asp1245Glu)
c.3879C>A (p.Asp1293Glu)
c.3654C>A (p.Asp1218Glu)
n.207C>A
c.218C>A
19g.7561046C>GCA403138420PNPLA6c.3849C>G (p.Asp1283Glu)
c.3735C>G (p.Asp1245Glu)
c.3879C>G (p.Asp1293Glu)
c.3654C>G (p.Asp1218Glu)
n.207C>G
c.218C>G
19g.7561046C>TCA505404317PNPLA6c.3849C>T (p.Asp1283=)
c.3735C>T (p.Asp1245=)
c.3879C>T (p.Asp1293=)
c.3654C>T (p.Asp1218=)
n.207C>T
c.218C>T
19g.7561046_7561047delinsCTCA2320979516PNPLA6c.3849_3850delinsCT (p.Asp1283=)
c.3735_3736delinsCT (p.Asp1245=)
c.3879_3880delinsCT (p.Asp1293=)
c.3654_3655delinsCT (p.Asp1218=)
n.207_208delinsCT
c.218_219delinsCT
19g.7561046_7561048delinsCTTCA2320979517PNPLA6c.3849_3851delinsCTT (p.Asp1283=)
c.3735_3737delinsCTT (p.Asp1245=)
c.3879_3881delinsCTT (p.Asp1293=)
c.3654_3656delinsCTT (p.Asp1218=)
n.207_209delinsCTT
c.218_220delinsCTT
19g.7561047T>ACA403138423PNPLA6c.3850T>A (p.Leu1284Met)
c.3736T>A (p.Leu1246Met)
c.3880T>A (p.Leu1294Met)
c.3655T>A (p.Leu1219Met)
n.208T>A
c.219T>A
19g.7561047T>CCA505404318PNPLA6c.3850T>C (p.Leu1284=)
c.3736T>C (p.Leu1246=)
c.3880T>C (p.Leu1294=)
c.3655T>C (p.Leu1219=)
n.208T>C
c.219T>C
19g.7561047T>GCA403138427PNPLA6c.3850T>G (p.Leu1284Val)
c.3736T>G (p.Leu1246Val)
c.3880T>G (p.Leu1294Val)
c.3655T>G (p.Leu1219Val)
n.208T>G
c.219T>G
19g.7561047_7561048delCA16043123PNPLA6c.3850_3851del (p.Leu1284GlyfsTer8)
c.3736_3737del (p.Leu1246GlyfsTer8)
c.3880_3881del (p.Leu1294GlyfsTer8)
c.3655_3656del (p.Leu1219GlyfsTer8)
n.208_209del
c.219_220del
 ClinVar dbSNP gnomAD v4
19g.7561048delCA9140613PNPLA6c.3851del (p.Leu1284TrpfsTer28)
c.3737del (p.Leu1246TrpfsTer28)
c.3881del (p.Leu1294TrpfsTer28)
c.3656del (p.Leu1219TrpfsTer28)
n.209del
c.220del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7561048T>ACA403138434PNPLA6c.3851T>A (p.Leu1284Ter)
c.3737T>A (p.Leu1246Ter)
c.3881T>A (p.Leu1294Ter)
c.3656T>A (p.Leu1219Ter)
n.209T>A
c.220T>A
 ClinVar dbSNP gnomAD v4
19g.7561048T>CCA403138436PNPLA6c.3851T>C (p.Leu1284Ser)
c.3737T>C (p.Leu1246Ser)
c.3881T>C (p.Leu1294Ser)
c.3656T>C (p.Leu1219Ser)
n.209T>C
c.220T>C
19g.7561048T>GCA403138441PNPLA6c.3851T>G (p.Leu1284Trp)
c.3737T>G (p.Leu1246Trp)
c.3881T>G (p.Leu1294Trp)
c.3656T>G (p.Leu1219Trp)
n.209T>G
c.220T>G
19g.7561048T=CA2320979518PNPLA6c.3851T= (p.Leu1284=)
c.3737T= (p.Leu1246=)
c.3881T= (p.Leu1294=)
c.3656T= (p.Leu1219=)
n.209T=
c.220T=
19g.7561049G>ACA505404319PNPLA6c.3852G>A (p.Leu1284=)
c.3738G>A (p.Leu1246=)
c.3882G>A (p.Leu1294=)
c.3657G>A (p.Leu1219=)
n.210G>A
c.221G>A
19g.7561049G>CCA403138445PNPLA6c.3852G>C (p.Leu1284Phe)
c.3738G>C (p.Leu1246Phe)
c.3882G>C (p.Leu1294Phe)
c.3657G>C (p.Leu1219Phe)
n.210G>C
c.221G>C
19g.7561049G>TCA403138444PNPLA6c.3852G>T (p.Leu1284Phe)
c.3738G>T (p.Leu1246Phe)
c.3882G>T (p.Leu1294Phe)
c.3657G>T (p.Leu1219Phe)
n.210G>T
c.221G>T
19g.7561050G>ACA403138449PNPLA6c.3853G>A (p.Ala1285Thr)
c.3739G>A (p.Ala1247Thr)
c.3883G>A (p.Ala1295Thr)
c.3658G>A (p.Ala1220Thr)
n.211G>A
c.222G>A
 gnomAD v4
19g.7561050G>CCA403138456PNPLA6c.3853G>C (p.Ala1285Pro)
c.3739G>C (p.Ala1247Pro)
c.3883G>C (p.Ala1295Pro)
c.3658G>C (p.Ala1220Pro)
n.211G>C
c.222G>C
19g.7561050G>TCA403138454PNPLA6c.3853G>T (p.Ala1285Ser)
c.3739G>T (p.Ala1247Ser)
c.3883G>T (p.Ala1295Ser)
c.3658G>T (p.Ala1220Ser)
n.211G>T
c.222G>T
19g.7561051C>ACA403138458PNPLA6c.3854C>A (p.Ala1285Glu)
c.3740C>A (p.Ala1247Glu)
c.3884C>A (p.Ala1295Glu)
c.3659C>A (p.Ala1220Glu)
n.212C>A
c.223C>A
19g.7561051C>GCA403138463PNPLA6c.3854C>G (p.Ala1285Gly)
c.3740C>G (p.Ala1247Gly)
c.3884C>G (p.Ala1295Gly)
c.3659C>G (p.Ala1220Gly)
n.212C>G
c.223C>G
19g.7561051C>TCA403138466PNPLA6c.3854C>T (p.Ala1285Val)
c.3740C>T (p.Ala1247Val)
c.3884C>T (p.Ala1295Val)
c.3659C>T (p.Ala1220Val)
n.212C>T
c.223C>T
 gnomAD v4 COSMIC COSMIC
19g.7561052A>CCA505404320PNPLA6c.3855A>C (p.Ala1285=)
c.3741A>C (p.Ala1247=)
c.3885A>C (p.Ala1295=)
c.3660A>C (p.Ala1220=)
n.213A>C
c.224A>C
19g.7561052A>GCA505404321PNPLA6c.3855A>G (p.Ala1285=)
c.3741A>G (p.Ala1247=)
c.3885A>G (p.Ala1295=)
c.3660A>G (p.Ala1220=)
n.213A>G
c.224A>G
19g.7561052A>TCA505404322PNPLA6c.3855A>T (p.Ala1285=)
c.3741A>T (p.Ala1247=)
c.3885A>T (p.Ala1295=)
c.3660A>T (p.Ala1220=)
n.213A>T
c.224A>T
19g.7561053G>ACA403138471PNPLA6c.3856G>A (p.Glu1286Lys)
c.3742G>A (p.Glu1248Lys)
c.3886G>A (p.Glu1296Lys)
c.3661G>A (p.Glu1221Lys)
n.214G>A
c.225G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7561053G>CCA403138472PNPLA6c.3856G>C (p.Glu1286Gln)
c.3742G>C (p.Glu1248Gln)
c.3886G>C (p.Glu1296Gln)
c.3661G>C (p.Glu1221Gln)
n.214G>C
c.225G>C
 gnomAD v4
19g.7561053G=CA2320979519PNPLA6c.3856G= (p.Glu1286=)
c.3742G= (p.Glu1248=)
c.3886G= (p.Glu1296=)
c.3661G= (p.Glu1221=)
n.214G=
c.225G=
19g.7561053G>TCA403138476PNPLA6c.3856G>T (p.Glu1286Ter)
c.3742G>T (p.Glu1248Ter)
c.3886G>T (p.Glu1296Ter)
c.3661G>T (p.Glu1221Ter)
n.214G>T
c.225G>T
19g.7561054A>CCA403138479PNPLA6c.3857A>C (p.Glu1286Ala)
c.3743A>C (p.Glu1248Ala)
c.3887A>C (p.Glu1296Ala)
c.3662A>C (p.Glu1221Ala)
n.215A>C
c.226A>C
19g.7561054A>GCA403138483PNPLA6c.3857A>G (p.Glu1286Gly)
c.3743A>G (p.Glu1248Gly)
c.3887A>G (p.Glu1296Gly)
c.3662A>G (p.Glu1221Gly)
n.215A>G
c.226A>G
19g.7561054A>TCA403138489PNPLA6c.3857A>T (p.Glu1286Val)
c.3743A>T (p.Glu1248Val)
c.3887A>T (p.Glu1296Val)
c.3662A>T (p.Glu1221Val)
n.215A>T
c.226A>T
19g.7561055G>ACA505404323PNPLA6c.3858G>A (p.Glu1286=)
c.3744G>A (p.Glu1248=)
c.3888G>A (p.Glu1296=)
c.3663G>A (p.Glu1221=)
n.216G>A
c.227G>A
 gnomAD v4
19g.7561055G>CCA403138491PNPLA6c.3858G>C (p.Glu1286Asp)
c.3744G>C (p.Glu1248Asp)
c.3888G>C (p.Glu1296Asp)
c.3663G>C (p.Glu1221Asp)
n.216G>C
c.227G>C
 COSMIC COSMIC
19g.7561055G>TCA403138494PNPLA6c.3858G>T (p.Glu1286Asp)
c.3744G>T (p.Glu1248Asp)
c.3888G>T (p.Glu1296Asp)
c.3663G>T (p.Glu1221Asp)
n.216G>T
c.227G>T
19g.7561056A>CCA403138501PNPLA6c.3859A>C (p.Ile1287Leu)
c.3745A>C (p.Ile1249Leu)
c.3889A>C (p.Ile1297Leu)
c.3664A>C (p.Ile1222Leu)
n.217A>C
c.228A>C
19g.7561056A>GCA403138499PNPLA6c.3859A>G (p.Ile1287Val)
c.3745A>G (p.Ile1249Val)
c.3889A>G (p.Ile1297Val)
c.3664A>G (p.Ile1222Val)
n.217A>G
c.228A>G
19g.7561056A>TCA403138497PNPLA6c.3859A>T (p.Ile1287Phe)
c.3745A>T (p.Ile1249Phe)
c.3889A>T (p.Ile1297Phe)
c.3664A>T (p.Ile1222Phe)
n.217A>T
c.228A>T
19g.7561057T>ACA403138504PNPLA6c.3860T>A (p.Ile1287Asn)
c.3746T>A (p.Ile1249Asn)
c.3890T>A (p.Ile1297Asn)
c.3665T>A (p.Ile1222Asn)
n.218T>A
c.229T>A
19g.7561057T>CCA403138505PNPLA6c.3860T>C (p.Ile1287Thr)
c.3746T>C (p.Ile1249Thr)
c.3890T>C (p.Ile1297Thr)
c.3665T>C (p.Ile1222Thr)
n.218T>C
c.229T>C
19g.7561057T>GCA403138506PNPLA6c.3860T>G (p.Ile1287Ser)
c.3746T>G (p.Ile1249Ser)
c.3890T>G (p.Ile1297Ser)
c.3665T>G (p.Ile1222Ser)
n.218T>G
c.229T>G
19g.7561058T>ACA505404324PNPLA6c.3861T>A (p.Ile1287=)
c.3747T>A (p.Ile1249=)
c.3891T>A (p.Ile1297=)
c.3666T>A (p.Ile1222=)
n.219T>A
c.230T>A
19g.7561058T>CCA505404325PNPLA6c.3861T>C (p.Ile1287=)
c.3747T>C (p.Ile1249=)
c.3891T>C (p.Ile1297=)
c.3666T>C (p.Ile1222=)
n.219T>C
c.230T>C
19g.7561058T>GCA403138507PNPLA6c.3861T>G (p.Ile1287Met)
c.3747T>G (p.Ile1249Met)
c.3891T>G (p.Ile1297Met)
c.3666T>G (p.Ile1222Met)
n.219T>G
c.230T>G
19g.7561059G>ACA403138509PNPLA6c.3862G>A (p.Val1288Met)
c.3748G>A (p.Val1250Met)
c.3892G>A (p.Val1298Met)
c.3667G>A (p.Val1223Met)
n.220G>A
c.231G>A
 gnomAD v4
19g.7561059G>CCA403138511PNPLA6c.3862G>C (p.Val1288Leu)
c.3748G>C (p.Val1250Leu)
c.3892G>C (p.Val1298Leu)
c.3667G>C (p.Val1223Leu)
n.220G>C
c.231G>C
19g.7561059G=CA2320979520PNPLA6c.3862G= (p.Val1288=)
c.3748G= (p.Val1250=)
c.3892G= (p.Val1298=)
c.3667G= (p.Val1223=)
n.220G=
c.231G=
19g.7561059G>TCA9140614PNPLA6c.3862G>T (p.Val1288Leu)
c.3748G>T (p.Val1250Leu)
c.3892G>T (p.Val1298Leu)
c.3667G>T (p.Val1223Leu)
n.220G>T
c.231G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7561060T>ACA403138515PNPLA6c.3863T>A (p.Val1288Glu)
c.3749T>A (p.Val1250Glu)
c.3893T>A (p.Val1298Glu)
c.3668T>A (p.Val1223Glu)
n.221T>A
c.232T>A
19g.7561060T>CCA403138517PNPLA6c.3863T>C (p.Val1288Ala)
c.3749T>C (p.Val1250Ala)
c.3893T>C (p.Val1298Ala)
c.3668T>C (p.Val1223Ala)
n.221T>C
c.232T>C
19g.7561060T>GCA403138521PNPLA6c.3863T>G (p.Val1288Gly)
c.3749T>G (p.Val1250Gly)
c.3893T>G (p.Val1298Gly)
c.3668T>G (p.Val1223Gly)
n.221T>G
c.232T>G
19g.7561061G>ACA505404326PNPLA6c.3864G>A (p.Val1288=)
c.3750G>A (p.Val1250=)
c.3894G>A (p.Val1298=)
c.3669G>A (p.Val1223=)
n.222G>A
c.233G>A
 gnomAD v4
19g.7561061G>CCA505404327PNPLA6c.3864G>C (p.Val1288=)
c.3750G>C (p.Val1250=)
c.3894G>C (p.Val1298=)
c.3669G>C (p.Val1223=)
n.222G>C
c.233G>C
19g.7561061G=CA2320979521PNPLA6c.3864G= (p.Val1288=)
c.3750G= (p.Val1250=)
c.3894G= (p.Val1298=)
c.3669G= (p.Val1223=)
n.222G=
c.233G=
19g.7561061G>TCA505404328PNPLA6c.3864G>T (p.Val1288=)
c.3750G>T (p.Val1250=)
c.3894G>T (p.Val1298=)
c.3669G>T (p.Val1223=)
n.222G>T
c.233G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7561062T>ACA403138523PNPLA6c.3865T>A (p.Ser1289Thr)
c.3751T>A (p.Ser1251Thr)
c.3895T>A (p.Ser1299Thr)
c.3670T>A (p.Ser1224Thr)
n.223T>A
c.234T>A
19g.7561062T>CCA403138524PNPLA6c.3865T>C (p.Ser1289Pro)
c.3751T>C (p.Ser1251Pro)
c.3895T>C (p.Ser1299Pro)
c.3670T>C (p.Ser1224Pro)
n.223T>C
c.234T>C
 gnomAD v4
19g.7561062T>GCA403138531PNPLA6c.3865T>G (p.Ser1289Ala)
c.3751T>G (p.Ser1251Ala)
c.3895T>G (p.Ser1299Ala)
c.3670T>G (p.Ser1224Ala)
n.223T>G
c.234T>G
19g.7561063C>ACA403138538PNPLA6c.3866C>A (p.Ser1289Tyr)
c.3752C>A (p.Ser1251Tyr)
c.3896C>A (p.Ser1299Tyr)
c.3671C>A (p.Ser1224Tyr)
n.224C>A
c.235C>A
19g.7561063C=CA2320979522PNPLA6c.3866C= (p.Ser1289=)
c.3752C= (p.Ser1251=)
c.3896C= (p.Ser1299=)
c.3671C= (p.Ser1224=)
n.224C=
c.235C=
19g.7561063C>GCA403138536PNPLA6c.3866C>G (p.Ser1289Cys)
c.3752C>G (p.Ser1251Cys)
c.3896C>G (p.Ser1299Cys)
c.3671C>G (p.Ser1224Cys)
n.224C>G
c.235C>G
19g.7561063C>TCA403138534PNPLA6c.3866C>T (p.Ser1289Phe)
c.3752C>T (p.Ser1251Phe)
c.3896C>T (p.Ser1299Phe)
c.3671C>T (p.Ser1224Phe)
n.224C>T
c.235C>T
 dbSNP gnomAD v2
19g.7561064C>ACA505404330PNPLA6c.3867C>A (p.Ser1289=)
c.3753C>A (p.Ser1251=)
c.3897C>A (p.Ser1299=)
c.3672C>A (p.Ser1224=)
n.225C>A
c.236C>A
19g.7561064C>GCA505404331PNPLA6c.3867C>G (p.Ser1289=)
c.3753C>G (p.Ser1251=)
c.3897C>G (p.Ser1299=)
c.3672C>G (p.Ser1224=)
n.225C>G
c.236C>G
19g.7561064C>TCA505404329PNPLA6c.3867C>T (p.Ser1289=)
c.3753C>T (p.Ser1251=)
c.3897C>T (p.Ser1299=)
c.3672C>T (p.Ser1224=)
n.225C>T
c.236C>T
19g.7561065C>ACA505404332PNPLA6c.3868C>A (p.Arg1290=)
c.3754C>A (p.Arg1252=)
c.3898C>A (p.Arg1300=)
c.3673C>A (p.Arg1225=)
n.226C>A
c.237C>A
 dbSNP gnomAD v2 gnomAD v4
19g.7561065C=CA2320979523PNPLA6c.3868C= (p.Arg1290=)
c.3754C= (p.Arg1252=)
c.3898C= (p.Arg1300=)
c.3673C= (p.Arg1225=)
n.226C=
c.237C=
19g.7561065C>GCA403138542PNPLA6c.3868C>G (p.Arg1290Gly)
c.3754C>G (p.Arg1252Gly)
c.3898C>G (p.Arg1300Gly)
c.3673C>G (p.Arg1225Gly)
n.226C>G
c.237C>G
19g.7561065C>TCA9140615PNPLA6c.3868C>T (p.Arg1290Trp)
c.3754C>T (p.Arg1252Trp)
c.3898C>T (p.Arg1300Trp)
c.3673C>T (p.Arg1225Trp)
n.226C>T
c.237C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7561066G>ACA9140616PNPLA6c.3869G>A (p.Arg1290Gln)
c.3755G>A (p.Arg1252Gln)
c.3899G>A (p.Arg1300Gln)
c.3674G>A (p.Arg1225Gln)
n.227G>A
c.238G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7561066G>CCA403138545PNPLA6c.3869G>C (p.Arg1290Pro)
c.3755G>C (p.Arg1252Pro)
c.3899G>C (p.Arg1300Pro)
c.3674G>C (p.Arg1225Pro)
n.227G>C
c.238G>C
19g.7561066G=CA2320979524PNPLA6c.3869G= (p.Arg1290=)
c.3755G= (p.Arg1252=)
c.3899G= (p.Arg1300=)
c.3674G= (p.Arg1225=)
n.227G=
c.238G=
19g.7561066G>TCA403138548PNPLA6c.3869G>T (p.Arg1290Leu)
c.3755G>T (p.Arg1252Leu)
c.3899G>T (p.Arg1300Leu)
c.3674G>T (p.Arg1225Leu)
n.227G>T
c.238G>T
19g.7561067G>ACA505404333PNPLA6c.3870G>A (p.Arg1290=)
c.3756G>A (p.Arg1252=)
c.3900G>A (p.Arg1300=)
c.3675G>A (p.Arg1225=)
n.228G>A
c.239G>A
 dbSNP gnomAD v2 gnomAD v4
19g.7561067G>CCA505404334PNPLA6c.3870G>C (p.Arg1290=)
c.3756G>C (p.Arg1252=)
c.3900G>C (p.Arg1300=)
c.3675G>C (p.Arg1225=)
n.228G>C
c.239G>C
 gnomAD v4
19g.7561067G=CA2320979525PNPLA6c.3870G= (p.Arg1290=)
c.3756G= (p.Arg1252=)
c.3900G= (p.Arg1300=)
c.3675G= (p.Arg1225=)
n.228G=
c.239G=
19g.7561067G>TCA505404335PNPLA6c.3870G>T (p.Arg1290=)
c.3756G>T (p.Arg1252=)
c.3900G>T (p.Arg1300=)
c.3675G>T (p.Arg1225=)
n.228G>T
c.239G>T
19g.7561068A>CCA403138550PNPLA6c.3871A>C (p.Ile1291Leu)
c.3757A>C (p.Ile1253Leu)
c.3901A>C (p.Ile1301Leu)
c.3676A>C (p.Ile1226Leu)
n.229A>C
c.240A>C
19g.7561068A>GCA403138551PNPLA6c.3871A>G (p.Ile1291Val)
c.3757A>G (p.Ile1253Val)
c.3901A>G (p.Ile1301Val)
c.3676A>G (p.Ile1226Val)
n.229A>G
c.240A>G
19g.7561068A>TCA403138552PNPLA6c.3871A>T (p.Ile1291Phe)
c.3757A>T (p.Ile1253Phe)
c.3901A>T (p.Ile1301Phe)
c.3676A>T (p.Ile1226Phe)
n.229A>T
c.240A>T
19g.7561069T>ACA403138556PNPLA6c.3872T>A (p.Ile1291Asn)
c.3758T>A (p.Ile1253Asn)
c.3902T>A (p.Ile1301Asn)
c.3677T>A (p.Ile1226Asn)
n.230T>A
c.241T>A
19g.7561069T>CCA403138561PNPLA6c.3872T>C (p.Ile1291Thr)
c.3758T>C (p.Ile1253Thr)
c.3902T>C (p.Ile1301Thr)
c.3677T>C (p.Ile1226Thr)
n.230T>C
c.241T>C
19g.7561069T>GCA403138559PNPLA6c.3872T>G (p.Ile1291Ser)
c.3758T>G (p.Ile1253Ser)
c.3902T>G (p.Ile1301Ser)
c.3677T>G (p.Ile1226Ser)
n.230T>G
c.241T>G
19g.7561070T>ACA505404336PNPLA6c.3873T>A (p.Ile1291=)
c.3759T>A (p.Ile1253=)
c.3903T>A (p.Ile1301=)
c.3678T>A (p.Ile1226=)
n.231T>A
c.242T>A
19g.7561070T>CCA505404337PNPLA6c.3873T>C (p.Ile1291=)
c.3759T>C (p.Ile1253=)
c.3903T>C (p.Ile1301=)
c.3678T>C (p.Ile1226=)
n.231T>C
c.242T>C
19g.7561070T>GCA403138564PNPLA6c.3873T>G (p.Ile1291Met)
c.3759T>G (p.Ile1253Met)
c.3903T>G (p.Ile1301Met)
c.3678T>G (p.Ile1226Met)
n.231T>G
c.242T>G
19g.7561071G>ACA403138574PNPLA6c.3874G>A (p.Glu1292Lys)
c.3760G>A (p.Glu1254Lys)
c.3904G>A (p.Glu1302Lys)
c.3679G>A (p.Glu1227Lys)
n.232G>A
c.243G>A
19g.7561071G>CCA403138576PNPLA6c.3874G>C (p.Glu1292Gln)
c.3760G>C (p.Glu1254Gln)
c.3904G>C (p.Glu1302Gln)
c.3679G>C (p.Glu1227Gln)
n.232G>C
c.243G>C
19g.7561071G>TCA403138580PNPLA6c.3874G>T (p.Glu1292Ter)
c.3760G>T (p.Glu1254Ter)
c.3904G>T (p.Glu1302Ter)
c.3679G>T (p.Glu1227Ter)
n.232G>T
c.243G>T
19g.7561072A>CCA403138583PNPLA6c.3875A>C (p.Glu1292Ala)
c.3761A>C (p.Glu1254Ala)
c.3905A>C (p.Glu1302Ala)
c.3680A>C (p.Glu1227Ala)
n.233A>C
c.244A>C
19g.7561072A>GCA403138587PNPLA6c.3875A>G (p.Glu1292Gly)
c.3761A>G (p.Glu1254Gly)
c.3905A>G (p.Glu1302Gly)
c.3680A>G (p.Glu1227Gly)
n.233A>G
c.244A>G
19g.7561072A>TCA403138584PNPLA6c.3875A>T (p.Glu1292Val)
c.3761A>T (p.Glu1254Val)
c.3905A>T (p.Glu1302Val)
c.3680A>T (p.Glu1227Val)
n.233A>T
c.244A>T
19g.7561073G>ACA505404338PNPLA6c.3876G>A (p.Glu1292=)
c.3762G>A (p.Glu1254=)
c.3906G>A (p.Glu1302=)
c.3681G>A (p.Glu1227=)
n.234G>A
c.245G>A
19g.7561073G>CCA9140617PNPLA6c.3876G>C (p.Glu1292Asp)
c.3762G>C (p.Glu1254Asp)
c.3906G>C (p.Glu1302Asp)
c.3681G>C (p.Glu1227Asp)
n.234G>C
c.245G>C
 ClinVar dbSNP ExAC gnomAD v2
19g.7561073G=CA2320979526PNPLA6c.3876G= (p.Glu1292=)
c.3762G= (p.Glu1254=)
c.3906G= (p.Glu1302=)
c.3681G= (p.Glu1227=)
n.234G=
c.245G=
19g.7561073G>TCA403138590PNPLA6c.3876G>T (p.Glu1292Asp)
c.3762G>T (p.Glu1254Asp)
c.3906G>T (p.Glu1302Asp)
c.3681G>T (p.Glu1227Asp)
n.234G>T
c.245G>T
 gnomAD v4
19g.7561074C>ACA403138594PNPLA6c.3877C>A (p.Pro1293Thr)
c.3763C>A (p.Pro1255Thr)
c.3907C>A (p.Pro1303Thr)
c.3682C>A (p.Pro1228Thr)
n.235C>A
c.246C>A
 gnomAD v4
19g.7561074C=CA2320979527PNPLA6c.3877C= (p.Pro1293=)
c.3763C= (p.Pro1255=)
c.3907C= (p.Pro1303=)
c.3682C= (p.Pro1228=)
n.235C=
c.246C=
19g.7561074C>GCA403138597PNPLA6c.3877C>G (p.Pro1293Ala)
c.3763C>G (p.Pro1255Ala)
c.3907C>G (p.Pro1303Ala)
c.3682C>G (p.Pro1228Ala)
n.235C>G
c.246C>G
19g.7561074C>TCA403138599PNPLA6c.3877C>T (p.Pro1293Ser)
c.3763C>T (p.Pro1255Ser)
c.3907C>T (p.Pro1303Ser)
c.3682C>T (p.Pro1228Ser)
n.235C>T
c.246C>T
 dbSNP gnomAD v2 gnomAD v4
19g.7561079dupCA9140618PNPLA6c.3882dup (p.Thr1295HisfsTer6)
c.3768dup (p.Thr1257HisfsTer6)
c.3912dup (p.Thr1305HisfsTer6)
c.3687dup (p.Thr1230HisfsTer6)
n.240dup
c.251dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7561079delCA505404339PNPLA6c.3882del (p.Thr1295ArgfsTer17)
c.3768del (p.Thr1257ArgfsTer17)
c.3912del (p.Thr1305ArgfsTer17)
c.3687del (p.Thr1230ArgfsTer17)
n.240del
c.251del
 ClinVar gnomAD v4 COSMIC COSMIC
19g.7561075C>ACA403138601PNPLA6c.3878C>A (p.Pro1293His)
c.3764C>A (p.Pro1255His)
c.3908C>A (p.Pro1303His)
c.3683C>A (p.Pro1228His)
n.236C>A
c.247C>A
19g.7561075C=CA2320979528PNPLA6c.3878C= (p.Pro1293=)
c.3764C= (p.Pro1255=)
c.3908C= (p.Pro1303=)
c.3683C= (p.Pro1228=)
n.236C=
c.247C=
19g.7561075C>GCA403138605PNPLA6c.3878C>G (p.Pro1293Arg)
c.3764C>G (p.Pro1255Arg)
c.3908C>G (p.Pro1303Arg)
c.3683C>G (p.Pro1228Arg)
n.236C>G
c.247C>G
19g.7561075C>TCA403138608PNPLA6c.3878C>T (p.Pro1293Leu)
c.3764C>T (p.Pro1255Leu)
c.3908C>T (p.Pro1303Leu)
c.3683C>T (p.Pro1228Leu)
n.236C>T
c.247C>T
 dbSNP gnomAD v2
19g.7561076C>ACA505404340PNPLA6c.3879C>A (p.Pro1293=)
c.3765C>A (p.Pro1255=)
c.3909C>A (p.Pro1303=)
c.3684C>A (p.Pro1228=)
n.237C>A
c.248C>A
19g.7561076C=CA2320979529PNPLA6c.3879C= (p.Pro1293=)
c.3765C= (p.Pro1255=)
c.3909C= (p.Pro1303=)
c.3684C= (p.Pro1228=)
n.237C=
c.248C=
19g.7561076C>GCA505404341PNPLA6c.3879C>G (p.Pro1293=)
c.3765C>G (p.Pro1255=)
c.3909C>G (p.Pro1303=)
c.3684C>G (p.Pro1228=)
n.237C>G
c.248C>G
 ClinVar dbSNP gnomAD v4
19g.7561076C>TCA505404342PNPLA6c.3879C>T (p.Pro1293=)
c.3765C>T (p.Pro1255=)
c.3909C>T (p.Pro1303=)
c.3684C>T (p.Pro1228=)
n.237C>T
c.248C>T
19g.7561077C>ACA403138612PNPLA6c.3880C>A (p.Pro1294Thr)
c.3766C>A (p.Pro1256Thr)
c.3910C>A (p.Pro1304Thr)
c.3685C>A (p.Pro1229Thr)
n.238C>A
c.249C>A
19g.7561077C=CA2320979530PNPLA6c.3880C= (p.Pro1294=)
c.3766C= (p.Pro1256=)
c.3910C= (p.Pro1304=)
c.3685C= (p.Pro1229=)
n.238C=
c.249C=
19g.7561077C>GCA403138613PNPLA6c.3880C>G (p.Pro1294Ala)
c.3766C>G (p.Pro1256Ala)
c.3910C>G (p.Pro1304Ala)
c.3685C>G (p.Pro1229Ala)
n.238C>G
c.249C>G
19g.7561077C>TCA304883023PNPLA6c.3880C>T (p.Pro1294Ser)
c.3766C>T (p.Pro1256Ser)
c.3910C>T (p.Pro1304Ser)
c.3685C>T (p.Pro1229Ser)
n.238C>T
c.249C>T
 dbSNP
19g.7561078C>ACA403138620PNPLA6c.3881C>A (p.Pro1294His)
c.3767C>A (p.Pro1256His)
c.3911C>A (p.Pro1304His)
c.3686C>A (p.Pro1229His)
n.239C>A
c.250C>A
19g.7561078C=CA2320979531PNPLA6c.3881C= (p.Pro1294=)
c.3767C= (p.Pro1256=)
c.3911C= (p.Pro1304=)
c.3686C= (p.Pro1229=)
n.239C=
c.250C=
19g.7561078C>GCA403138623PNPLA6c.3881C>G (p.Pro1294Arg)
c.3767C>G (p.Pro1256Arg)
c.3911C>G (p.Pro1304Arg)
c.3686C>G (p.Pro1229Arg)
n.239C>G
c.250C>G
19g.7561078C>TCA403138619PNPLA6c.3881C>T (p.Pro1294Leu)
c.3767C>T (p.Pro1256Leu)
c.3911C>T (p.Pro1304Leu)
c.3686C>T (p.Pro1229Leu)
n.239C>T
c.250C>T
 ClinVar dbSNP gnomAD v4
19g.7561079C>ACA505404343PNPLA6c.3882C>A (p.Pro1294=)
c.3768C>A (p.Pro1256=)
c.3912C>A (p.Pro1304=)
c.3687C>A (p.Pro1229=)
n.240C>A
c.251C>A
19g.7561079C=CA2320979532PNPLA6c.3882C= (p.Pro1294=)
c.3768C= (p.Pro1256=)
c.3912C= (p.Pro1304=)
c.3687C= (p.Pro1229=)
n.240C=
c.251C=
19g.7561079C>GCA9140620PNPLA6c.3882C>G (p.Pro1294=)
c.3768C>G (p.Pro1256=)
c.3912C>G (p.Pro1304=)
c.3687C>G (p.Pro1229=)
n.240C>G
c.251C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7561079C>TCA9140619PNPLA6c.3882C>T (p.Pro1294=)
c.3768C>T (p.Pro1256=)
c.3912C>T (p.Pro1304=)
c.3687C>T (p.Pro1229=)
n.240C>T
c.251C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7561080A>CCA403138629PNPLA6c.3883A>C (p.Thr1295Pro)
c.3769A>C (p.Thr1257Pro)
c.3913A>C (p.Thr1305Pro)
c.3688A>C (p.Thr1230Pro)
n.241A>C
c.252A>C
19g.7561080A>GCA403138631PNPLA6c.3883A>G (p.Thr1295Ala)
c.3769A>G (p.Thr1257Ala)
c.3913A>G (p.Thr1305Ala)
c.3688A>G (p.Thr1230Ala)
n.241A>G
c.252A>G
 ClinVar dbSNP
19g.7561080A>TCA403138633PNPLA6c.3883A>T (p.Thr1295Ser)
c.3769A>T (p.Thr1257Ser)
c.3913A>T (p.Thr1305Ser)
c.3688A>T (p.Thr1230Ser)
n.241A>T
c.252A>T
 gnomAD v4
19g.7561081C>ACA403138638PNPLA6c.3884C>A (p.Thr1295Lys)
c.3770C>A (p.Thr1257Lys)
c.3914C>A (p.Thr1305Lys)
c.3689C>A (p.Thr1230Lys)
n.242C>A
c.253C>A
 dbSNP gnomAD v2 gnomAD v4
19g.7561081C=CA2320979533PNPLA6c.3884C= (p.Thr1295=)
c.3770C= (p.Thr1257=)
c.3914C= (p.Thr1305=)
c.3689C= (p.Thr1230=)
n.242C=
c.253C=
19g.7561081C>GCA403138640PNPLA6c.3884C>G (p.Thr1295Arg)
c.3770C>G (p.Thr1257Arg)
c.3914C>G (p.Thr1305Arg)
c.3689C>G (p.Thr1230Arg)
n.242C>G
c.253C>G
 ClinVar
19g.7561081C>TCA9140621PNPLA6c.3884C>T (p.Thr1295Met)
c.3770C>T (p.Thr1257Met)
c.3914C>T (p.Thr1305Met)
c.3689C>T (p.Thr1230Met)
n.242C>T
c.253C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7561082G>ACA9140622PNPLA6c.3885G>A (p.Thr1295=)
c.3771G>A (p.Thr1257=)
c.3915G>A (p.Thr1305=)
c.3690G>A (p.Thr1230=)
n.243G>A
c.254G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7561082G>CCA505404344PNPLA6c.3885G>C (p.Thr1295=)
c.3771G>C (p.Thr1257=)
c.3915G>C (p.Thr1305=)
c.3690G>C (p.Thr1230=)
n.243G>C
c.254G>C
19g.7561082G=CA2320979534PNPLA6c.3885G= (p.Thr1295=)
c.3771G= (p.Thr1257=)
c.3915G= (p.Thr1305=)
c.3690G= (p.Thr1230=)
n.243G=
c.254G=
19g.7561082G>TCA505404345PNPLA6c.3885G>T (p.Thr1295=)
c.3771G>T (p.Thr1257=)
c.3915G>T (p.Thr1305=)
c.3690G>T (p.Thr1230=)
n.243G>T
c.254G>T
19g.7561082dupCA2499225642PNPLA6c.3885dup (p.Ser1296GlufsTer5)
c.3771dup (p.Ser1258GlufsTer5)
c.3915dup (p.Ser1306GlufsTer5)
c.3690dup (p.Ser1231GlufsTer5)
n.243dup
c.254dup
 ClinVar dbSNP
19g.7561083A>CCA403138657PNPLA6c.3886A>C (p.Ser1296Arg)
c.3772A>C (p.Ser1258Arg)
c.3916A>C (p.Ser1306Arg)
c.3691A>C (p.Ser1231Arg)
n.244A>C
c.255A>C
19g.7561083A>GCA403138659PNPLA6c.3886A>G (p.Ser1296Gly)
c.3772A>G (p.Ser1258Gly)
c.3916A>G (p.Ser1306Gly)
c.3691A>G (p.Ser1231Gly)
n.244A>G
c.255A>G
19g.7561083A>TCA403138662PNPLA6c.3886A>T (p.Ser1296Cys)
c.3772A>T (p.Ser1258Cys)
c.3916A>T (p.Ser1306Cys)
c.3691A>T (p.Ser1231Cys)
n.244A>T
c.255A>T
19g.7561084G>ACA9140623PNPLA6c.3887G>A (p.Ser1296Asn)
c.3773G>A (p.Ser1258Asn)
c.3917G>A (p.Ser1306Asn)
c.3692G>A (p.Ser1231Asn)
n.245G>A
c.256G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7561084G>CCA403138667PNPLA6c.3887G>C (p.Ser1296Thr)
c.3773G>C (p.Ser1258Thr)
c.3917G>C (p.Ser1306Thr)
c.3692G>C (p.Ser1231Thr)
n.245G>C
c.256G>C
19g.7561084G=CA2320979535PNPLA6c.3887G= (p.Ser1296=)
c.3773G= (p.Ser1258=)
c.3917G= (p.Ser1306=)
c.3692G= (p.Ser1231=)
n.245G=
c.256G=
19g.7561084G>TCA403138670PNPLA6c.3887G>T (p.Ser1296Ile)
c.3773G>T (p.Ser1258Ile)
c.3917G>T (p.Ser1306Ile)
c.3692G>T (p.Ser1231Ile)
n.245G>T
c.256G>T
19g.7561085C>ACA403138672PNPLA6c.3888C>A (p.Ser1296Arg)
c.3774C>A (p.Ser1258Arg)
c.3918C>A (p.Ser1306Arg)
c.3693C>A (p.Ser1231Arg)
n.246C>A
c.257C>A
19g.7561085C>GCA403138674PNPLA6c.3888C>G (p.Ser1296Arg)
c.3774C>G (p.Ser1258Arg)
c.3918C>G (p.Ser1306Arg)
c.3693C>G (p.Ser1231Arg)
n.246C>G
c.257C>G
19g.7561085C>TCA505404346PNPLA6c.3888C>T (p.Ser1296=)
c.3774C>T (p.Ser1258=)
c.3918C>T (p.Ser1306=)
c.3693C>T (p.Ser1231=)
n.246C>T
c.257C>T
 gnomAD v4
19g.7561086T>ACA403138678PNPLA6c.3889T>A (p.Tyr1297Asn)
c.3775T>A (p.Tyr1259Asn)
c.3919T>A (p.Tyr1307Asn)
c.3694T>A (p.Tyr1232Asn)
n.247T>A
c.258T>A
19g.7561086T>CCA403138680PNPLA6c.3889T>C (p.Tyr1297His)
c.3775T>C (p.Tyr1259His)
c.3919T>C (p.Tyr1307His)
c.3694T>C (p.Tyr1232His)
n.247T>C
c.258T>C
19g.7561086T>GCA403138683PNPLA6c.3889T>G (p.Tyr1297Asp)
c.3775T>G (p.Tyr1259Asp)
c.3919T>G (p.Tyr1307Asp)
c.3694T>G (p.Tyr1232Asp)
n.247T>G
c.258T>G
19g.7561087A>CCA403138688PNPLA6c.3890A>C (p.Tyr1297Ser)
c.3776A>C (p.Tyr1259Ser)
c.3920A>C (p.Tyr1307Ser)
c.3695A>C (p.Tyr1232Ser)
n.248A>C
c.259A>C
19g.7561087A>GCA403138690PNPLA6c.3890A>G (p.Tyr1297Cys)
c.3776A>G (p.Tyr1259Cys)
c.3920A>G (p.Tyr1307Cys)
c.3695A>G (p.Tyr1232Cys)
n.248A>G
c.259A>G
 gnomAD v4
19g.7561087A>TCA403138694PNPLA6c.3890A>T (p.Tyr1297Phe)
c.3776A>T (p.Tyr1259Phe)
c.3920A>T (p.Tyr1307Phe)
c.3695A>T (p.Tyr1232Phe)
n.248A>T
c.259A>T
19g.7561088T>ACA403138696PNPLA6c.3891T>A (p.Tyr1297Ter)
c.3777T>A (p.Tyr1259Ter)
c.3921T>A (p.Tyr1307Ter)
c.3696T>A (p.Tyr1232Ter)
n.249T>A
c.260T>A
19g.7561088T>CCA505404347PNPLA6c.3891T>C (p.Tyr1297=)
c.3777T>C (p.Tyr1259=)
c.3921T>C (p.Tyr1307=)
c.3696T>C (p.Tyr1232=)
n.249T>C
c.260T>C
19g.7561088T>GCA403138698PNPLA6c.3891T>G (p.Tyr1297Ter)
c.3777T>G (p.Tyr1259Ter)
c.3921T>G (p.Tyr1307Ter)
c.3696T>G (p.Tyr1232Ter)
n.249T>G
c.260T>G
19g.7561089G>ACA403138701PNPLA6c.3892G>A (p.Val1298Ile)
c.3778G>A (p.Val1260Ile)
c.3922G>A (p.Val1308Ile)
c.3697G>A (p.Val1233Ile)
n.250G>A
c.261G>A
19g.7561089G>CCA403138706PNPLA6c.3892G>C (p.Val1298Leu)
c.3778G>C (p.Val1260Leu)
c.3922G>C (p.Val1308Leu)
c.3697G>C (p.Val1233Leu)
n.250G>C
c.261G>C
19g.7561089G>TCA403138709PNPLA6c.3892G>T (p.Val1298Phe)
c.3778G>T (p.Val1260Phe)
c.3922G>T (p.Val1308Phe)
c.3697G>T (p.Val1233Phe)
n.250G>T
c.261G>T
 COSMIC COSMIC
19g.7561090T>ACA403138723PNPLA6c.3893T>A (p.Val1298Asp)
c.3779T>A (p.Val1260Asp)
c.3923T>A (p.Val1308Asp)
c.3698T>A (p.Val1233Asp)
n.251T>A
c.262T>A
19g.7561090T>CCA403138727PNPLA6c.3893T>C (p.Val1298Ala)
c.3779T>C (p.Val1260Ala)
c.3923T>C (p.Val1308Ala)
c.3698T>C (p.Val1233Ala)
n.251T>C
c.262T>C
 gnomAD v4
19g.7561090T>GCA403138720PNPLA6c.3893T>G (p.Val1298Gly)
c.3779T>G (p.Val1260Gly)
c.3923T>G (p.Val1308Gly)
c.3698T>G (p.Val1233Gly)
n.251T>G
c.262T>G
19g.7561091C>ACA505404348PNPLA6c.3894C>A (p.Val1298=)
c.3780C>A (p.Val1260=)
c.3924C>A (p.Val1308=)
c.3699C>A (p.Val1233=)
n.252C>A
c.263C>A
19g.7561091C>GCA505404349PNPLA6c.3894C>G (p.Val1298=)
c.3780C>G (p.Val1260=)
c.3924C>G (p.Val1308=)
c.3699C>G (p.Val1233=)
n.252C>G
c.263C>G
19g.7561091C>TCA505404350PNPLA6c.3894C>T (p.Val1298=)
c.3780C>T (p.Val1260=)
c.3924C>T (p.Val1308=)
c.3699C>T (p.Val1233=)
n.252C>T
c.263C>T
19g.7561092T>ACA403138733PNPLA6c.3895T>A (p.Ser1299Thr)
c.3781T>A (p.Ser1261Thr)
c.3925T>A (p.Ser1309Thr)
c.3700T>A (p.Ser1234Thr)
n.253T>A
c.264T>A
19g.7561092T>CCA403138736PNPLA6c.3895T>C (p.Ser1299Pro)
c.3781T>C (p.Ser1261Pro)
c.3925T>C (p.Ser1309Pro)
c.3700T>C (p.Ser1234Pro)
n.253T>C
c.264T>C
19g.7561092T>GCA403138740PNPLA6c.3895T>G (p.Ser1299Ala)
c.3781T>G (p.Ser1261Ala)
c.3925T>G (p.Ser1309Ala)
c.3700T>G (p.Ser1234Ala)
n.253T>G
c.264T>G
19g.7561093C>ACA403138742PNPLA6c.3896C>A (p.Ser1299Tyr)
c.3782C>A (p.Ser1261Tyr)
c.3926C>A (p.Ser1309Tyr)
c.3701C>A (p.Ser1234Tyr)
n.254C>A
c.265C>A
19g.7561093C>GCA403138744PNPLA6c.3896C>G (p.Ser1299Cys)
c.3782C>G (p.Ser1261Cys)
c.3926C>G (p.Ser1309Cys)
c.3701C>G (p.Ser1234Cys)
n.254C>G
c.265C>G
19g.7561093C>TCA403138746PNPLA6c.3896C>T (p.Ser1299Phe)
c.3782C>T (p.Ser1261Phe)
c.3926C>T (p.Ser1309Phe)
c.3701C>T (p.Ser1234Phe)
n.254C>T
c.265C>T
19g.7561094T>ACA505404351PNPLA6c.3897T>A (p.Ser1299=)
c.3783T>A (p.Ser1261=)
c.3927T>A (p.Ser1309=)
c.3702T>A (p.Ser1234=)
n.255T>A
c.266T>A
19g.7561094T>CCA505404352PNPLA6c.3897T>C (p.Ser1299=)
c.3783T>C (p.Ser1261=)
c.3927T>C (p.Ser1309=)
c.3702T>C (p.Ser1234=)
n.255T>C
c.266T>C
19g.7561094T>GCA505404353PNPLA6c.3897T>G (p.Ser1299=)
c.3783T>G (p.Ser1261=)
c.3927T>G (p.Ser1309=)
c.3702T>G (p.Ser1234=)
n.255T>G
c.266T>G
 gnomAD v4
19g.7561096_7561098delCA2587958397PNPLA6c.3899_3901del (p.Asp1300del)
c.3785_3787del (p.Asp1262del)
c.3929_3931del (p.Asp1310del)
c.3704_3706del (p.Asp1235del)
n.257_259del
c.268_270del
 gnomAD v4
19g.7561095G>ACA403138753PNPLA6c.3898G>A (p.Asp1300Asn)
c.3784G>A (p.Asp1262Asn)
c.3928G>A (p.Asp1310Asn)
c.3703G>A (p.Asp1235Asn)
n.256G>A
c.267G>A
19g.7561095G>CCA403138751PNPLA6c.3898G>C (p.Asp1300His)
c.3784G>C (p.Asp1262His)
c.3928G>C (p.Asp1310His)
c.3703G>C (p.Asp1235His)
n.256G>C
c.267G>C
19g.7561095G>TCA403138752PNPLA6c.3898G>T (p.Asp1300Tyr)
c.3784G>T (p.Asp1262Tyr)
c.3928G>T (p.Asp1310Tyr)
c.3703G>T (p.Asp1235Tyr)
n.256G>T
c.267G>T
19g.7561096A>CCA403138758PNPLA6c.3899A>C (p.Asp1300Ala)
c.3785A>C (p.Asp1262Ala)
c.3929A>C (p.Asp1310Ala)
c.3704A>C (p.Asp1235Ala)
n.257A>C
c.268A>C
19g.7561096A>GCA403138759PNPLA6c.3899A>G (p.Asp1300Gly)
c.3785A>G (p.Asp1262Gly)
c.3929A>G (p.Asp1310Gly)
c.3704A>G (p.Asp1235Gly)
n.257A>G
c.268A>G
19g.7561096A>TCA403138763PNPLA6c.3899A>T (p.Asp1300Val)
c.3785A>T (p.Asp1262Val)
c.3929A>T (p.Asp1310Val)
c.3704A>T (p.Asp1235Val)
n.257A>T
c.268A>T
 gnomAD v4
19g.7561097T>ACA403138764PNPLA6c.3900T>A (p.Asp1300Glu)
c.3786T>A (p.Asp1262Glu)
c.3930T>A (p.Asp1310Glu)
c.3705T>A (p.Asp1235Glu)
n.258T>A
c.269T>A
19g.7561097T>CCA505404354PNPLA6c.3900T>C (p.Asp1300=)
c.3786T>C (p.Asp1262=)
c.3930T>C (p.Asp1310=)
c.3705T>C (p.Asp1235=)
n.258T>C
c.269T>C
 dbSNP gnomAD v4
19g.7561097T>GCA403138766PNPLA6c.3900T>G (p.Asp1300Glu)
c.3786T>G (p.Asp1262Glu)
c.3930T>G (p.Asp1310Glu)
c.3705T>G (p.Asp1235Glu)
n.258T>G
c.269T>G
19g.7561097T=CA2320979536PNPLA6c.3900T= (p.Asp1300=)
c.3786T= (p.Asp1262=)
c.3930T= (p.Asp1310=)
c.3705T= (p.Asp1235=)
n.258T=
c.269T=
19g.7561098G>ACA403138769PNPLA6c.3901G>A (p.Gly1301Ser)
c.3787G>A (p.Gly1263Ser)
c.3931G>A (p.Gly1311Ser)
c.3706G>A (p.Gly1236Ser)
n.259G>A
c.270G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7561098G>CCA403138775PNPLA6c.3901G>C (p.Gly1301Arg)
c.3787G>C (p.Gly1263Arg)
c.3931G>C (p.Gly1311Arg)
c.3706G>C (p.Gly1236Arg)
n.259G>C
c.270G>C
19g.7561098G=CA2320979537PNPLA6c.3901G= (p.Gly1301=)
c.3787G= (p.Gly1263=)
c.3931G= (p.Gly1311=)
c.3706G= (p.Gly1236=)
n.259G=
c.270G=
19g.7561098G>TCA403138771PNPLA6c.3901G>T (p.Gly1301Cys)
c.3787G>T (p.Gly1263Cys)
c.3931G>T (p.Gly1311Cys)
c.3706G>T (p.Gly1236Cys)
n.259G>T
c.270G>T
19g.7561099G>ACA403138777PNPLA6c.3902G>A (p.Gly1301Asp)
c.3788G>A (p.Gly1263Asp)
c.3932G>A (p.Gly1311Asp)
c.3707G>A (p.Gly1236Asp)
n.260G>A
c.271G>A
 gnomAD v4
19g.7561099G>CCA403138780PNPLA6c.3902G>C (p.Gly1301Ala)
c.3788G>C (p.Gly1263Ala)
c.3932G>C (p.Gly1311Ala)
c.3707G>C (p.Gly1236Ala)
n.260G>C
c.271G>C
19g.7561099G>TCA403138781PNPLA6c.3902G>T (p.Gly1301Val)
c.3788G>T (p.Gly1263Val)
c.3932G>T (p.Gly1311Val)
c.3707G>T (p.Gly1236Val)
n.260G>T
c.271G>T
19g.7561100C>ACA505404355PNPLA6c.3903C>A (p.Gly1301=)
c.3789C>A (p.Gly1263=)
c.3933C>A (p.Gly1311=)
c.3708C>A (p.Gly1236=)
n.261C>A
c.272C>A
 gnomAD v4
19g.7561100C=CA2320979538PNPLA6c.3903C= (p.Gly1301=)
c.3789C= (p.Gly1263=)
c.3933C= (p.Gly1311=)
c.3708C= (p.Gly1236=)
n.261C=
c.272C=
19g.7561100C>GCA505404356PNPLA6c.3903C>G (p.Gly1301=)
c.3789C>G (p.Gly1263=)
c.3933C>G (p.Gly1311=)
c.3708C>G (p.Gly1236=)
n.261C>G
c.272C>G
 dbSNP gnomAD v2
19g.7561100C>TCA505404357PNPLA6c.3903C>T (p.Gly1301=)
c.3789C>T (p.Gly1263=)
c.3933C>T (p.Gly1311=)
c.3708C>T (p.Gly1236=)
n.261C>T
c.272C>T
 ClinVar gnomAD v4
19g.7561101T>ACA403138782PNPLA6c.3904T>A (p.Cys1302Ser)
c.3790T>A (p.Cys1264Ser)
c.3934T>A (p.Cys1312Ser)
c.3709T>A (p.Cys1237Ser)
n.262T>A
c.273T>A
19g.7561101T>CCA403138783PNPLA6c.3904T>C (p.Cys1302Arg)
c.3790T>C (p.Cys1264Arg)
c.3934T>C (p.Cys1312Arg)
c.3709T>C (p.Cys1237Arg)
n.262T>C
c.273T>C
19g.7561101T>GCA403138784PNPLA6c.3904T>G (p.Cys1302Gly)
c.3790T>G (p.Cys1264Gly)
c.3934T>G (p.Cys1312Gly)
c.3709T>G (p.Cys1237Gly)
n.262T>G
c.273T>G
19g.7561102G>ACA403138786PNPLA6c.3905G>A (p.Cys1302Tyr)
c.3791G>A (p.Cys1264Tyr)
c.3935G>A (p.Cys1312Tyr)
c.3710G>A (p.Cys1237Tyr)
n.263G>A
c.274G>A
 gnomAD v4
19g.7561102G>CCA403138787PNPLA6c.3905G>C (p.Cys1302Ser)
c.3791G>C (p.Cys1264Ser)
c.3935G>C (p.Cys1312Ser)
c.3710G>C (p.Cys1237Ser)
n.263G>C
c.274G>C
19g.7561102G>TCA403138788PNPLA6c.3905G>T (p.Cys1302Phe)
c.3791G>T (p.Cys1264Phe)
c.3935G>T (p.Cys1312Phe)
c.3710G>T (p.Cys1237Phe)
n.263G>T
c.274G>T
19g.7561103T>ACA403138791PNPLA6c.3906T>A (p.Cys1302Ter)
c.3792T>A (p.Cys1264Ter)
c.3936T>A (p.Cys1312Ter)
c.3711T>A (p.Cys1237Ter)
n.264T>A
c.275T>A
19g.7561103T>CCA505404358PNPLA6c.3906T>C (p.Cys1302=)
c.3792T>C (p.Cys1264=)
c.3936T>C (p.Cys1312=)
c.3711T>C (p.Cys1237=)
n.264T>C
c.275T>C
19g.7561103T>GCA403138794PNPLA6c.3906T>G (p.Cys1302Trp)
c.3792T>G (p.Cys1264Trp)
c.3936T>G (p.Cys1312Trp)
c.3711T>G (p.Cys1237Trp)
n.264T>G
c.275T>G
19g.7561104G>ACA403138799PNPLA6c.3907G>A (p.Ala1303Thr)
c.3793G>A (p.Ala1265Thr)
c.3937G>A (p.Ala1313Thr)
c.3712G>A (p.Ala1238Thr)
n.265G>A
c.276G>A
19g.7561104G>CCA403138806PNPLA6c.3907G>C (p.Ala1303Pro)
c.3793G>C (p.Ala1265Pro)
c.3937G>C (p.Ala1313Pro)
c.3712G>C (p.Ala1238Pro)
n.265G>C
c.276G>C
19g.7561104G>TCA403138803PNPLA6c.3907G>T (p.Ala1303Ser)
c.3793G>T (p.Ala1265Ser)
c.3937G>T (p.Ala1313Ser)
c.3712G>T (p.Ala1238Ser)
n.265G>T
c.276G>T
 gnomAD v4
19g.7561105C>ACA403138809PNPLA6c.3908C>A (p.Ala1303Asp)
c.3794C>A (p.Ala1265Asp)
c.3938C>A (p.Ala1313Asp)
c.3713C>A (p.Ala1238Asp)
n.266C>A
c.277C>A
 gnomAD v4
19g.7561105C>GCA403138814PNPLA6c.3908C>G (p.Ala1303Gly)
c.3794C>G (p.Ala1265Gly)
c.3938C>G (p.Ala1313Gly)
c.3713C>G (p.Ala1238Gly)
n.266C>G
c.277C>G
19g.7561105C>TCA403138811PNPLA6c.3908C>T (p.Ala1303Val)
c.3794C>T (p.Ala1265Val)
c.3938C>T (p.Ala1313Val)
c.3713C>T (p.Ala1238Val)
n.266C>T
c.277C>T
19g.7561106T>ACA505404359PNPLA6c.3909T>A (p.Ala1303=)
c.3795T>A (p.Ala1265=)
c.3939T>A (p.Ala1313=)
c.3714T>A (p.Ala1238=)
n.267T>A
c.278T>A
19g.7561106T>CCA505404360PNPLA6c.3909T>C (p.Ala1303=)
c.3795T>C (p.Ala1265=)
c.3939T>C (p.Ala1313=)
c.3714T>C (p.Ala1238=)
n.267T>C
c.278T>C
19g.7561106T>GCA505404361PNPLA6c.3909T>G (p.Ala1303=)
c.3795T>G (p.Ala1265=)
c.3939T>G (p.Ala1313=)
c.3714T>G (p.Ala1238=)
n.267T>G
c.278T>G
19g.7561107G>ACA403138817PNPLA6c.3910G>A (p.Asp1304Asn)
c.3796G>A (p.Asp1266Asn)
c.3940G>A (p.Asp1314Asn)
c.3715G>A (p.Asp1239Asn)
n.268G>A
c.279G>A
 ClinVar
19g.7561107G>CCA403138823PNPLA6c.3910G>C (p.Asp1304His)
c.3796G>C (p.Asp1266His)
c.3940G>C (p.Asp1314His)
c.3715G>C (p.Asp1239His)
n.268G>C
c.279G>C
19g.7561107G>TCA403138826PNPLA6c.3910G>T (p.Asp1304Tyr)
c.3796G>T (p.Asp1266Tyr)
c.3940G>T (p.Asp1314Tyr)
c.3715G>T (p.Asp1239Tyr)
n.268G>T
c.279G>T

Number of alleles fetched