Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7560643C>ACA2587958180PNPLA6c.3700-5C>A (n.3700-5C>A)
c.3586-5C>A (n.3586-5C>A)
c.3730-5C>A (n.3730-5C>A)
c.3505-5C>A (n.3505-5C>A)
n.53C>A
c.186-371C>A
 gnomAD v4
19g.7560643C>TCA2587958179PNPLA6c.3700-5C>T (n.3700-5C>T)
c.3586-5C>T (n.3586-5C>T)
c.3730-5C>T (n.3730-5C>T)
c.3505-5C>T (n.3505-5C>T)
n.53C>T
c.186-371C>T
 gnomAD v4
19g.7560645C>ACA2587958181PNPLA6c.3700-3C>A (n.3700-3C>A)
c.3586-3C>A (n.3586-3C>A)
c.3730-3C>A (n.3730-3C>A)
c.3505-3C>A (n.3505-3C>A)
n.55C>A
c.186-369C>A
 gnomAD v4
19g.7560645C=CA2320979308PNPLA6c.3700-3C= (n.3700-3C=)
c.3586-3C= (n.3586-3C=)
c.3730-3C= (n.3730-3C=)
c.3505-3C= (n.3505-3C=)
n.55C=
c.186-369C=
19g.7560645C>GCA304882894PNPLA6c.3700-3C>G (n.3700-3C>G)
c.3586-3C>G (n.3586-3C>G)
c.3730-3C>G (n.3730-3C>G)
c.3505-3C>G (n.3505-3C>G)
n.55C>G
c.186-369C>G
 dbSNP
19g.7560645C>TCA2320979309PNPLA6c.3700-3C>T (n.3700-3C>T)
c.3586-3C>T (n.3586-3C>T)
c.3730-3C>T (n.3730-3C>T)
c.3505-3C>T (n.3505-3C>T)
n.55C>T
c.186-369C>T
 ClinVar dbSNP gnomAD v4
19g.7560646A>CCA403137289PNPLA6c.3700-2A>C (n.3700-2A>C)
c.3586-2A>C (n.3586-2A>C)
c.3730-2A>C (n.3730-2A>C)
c.3505-2A>C (n.3505-2A>C)
n.56A>C
c.186-368A>C
19g.7560646A>GCA403137286PNPLA6c.3700-2A>G (n.3700-2A>G)
c.3586-2A>G (n.3586-2A>G)
c.3730-2A>G (n.3730-2A>G)
c.3505-2A>G (n.3505-2A>G)
n.56A>G
c.186-368A>G
19g.7560646A>TCA403137288PNPLA6c.3700-2A>T (n.3700-2A>T)
c.3586-2A>T (n.3586-2A>T)
c.3730-2A>T (n.3730-2A>T)
c.3505-2A>T (n.3505-2A>T)
n.56A>T
c.186-368A>T
19g.7560647G>ACA403137291PNPLA6c.3700-1G>A (n.3700-1G>A)
c.3586-1G>A (n.3586-1G>A)
c.3730-1G>A (n.3730-1G>A)
c.3505-1G>A (n.3505-1G>A)
n.57G>A
c.186-367G>A
19g.7560647G>CCA403137292PNPLA6c.3700-1G>C (n.3700-1G>C)
c.3586-1G>C (n.3586-1G>C)
c.3730-1G>C (n.3730-1G>C)
c.3505-1G>C (n.3505-1G>C)
n.57G>C
c.186-367G>C
19g.7560647G>TCA403137294PNPLA6c.3700-1G>T (n.3700-1G>T)
c.3586-1G>T (n.3586-1G>T)
c.3730-1G>T (n.3730-1G>T)
c.3505-1G>T (n.3505-1G>T)
n.57G>T
c.186-367G>T
19g.7560648delCA2587958182PNPLA6c.3700del
c.3586del
c.3730del
c.3505del
n.58del
c.186-366del
 gnomAD v4
19g.7560648G>ACA403137296PNPLA6c.3700G>A (p.Asp1234Asn)
c.3586G>A (p.Asp1196Asn)
c.3730G>A (p.Asp1244Asn)
c.3505G>A (p.Asp1169Asn)
n.58G>A
c.186-366G>A
19g.7560648G>CCA403137300PNPLA6c.3700G>C (p.Asp1234His)
c.3586G>C (p.Asp1196His)
c.3730G>C (p.Asp1244His)
c.3505G>C (p.Asp1169His)
n.58G>C
c.186-366G>C
19g.7560648G>TCA403137303PNPLA6c.3700G>T (p.Asp1234Tyr)
c.3586G>T (p.Asp1196Tyr)
c.3730G>T (p.Asp1244Tyr)
c.3505G>T (p.Asp1169Tyr)
n.58G>T
c.186-366G>T
 gnomAD v4
19g.7560649A=CA2320979310PNPLA6c.3701A= (p.Asp1234=)
c.3587A= (p.Asp1196=)
c.3731A= (p.Asp1244=)
c.3506A= (p.Asp1169=)
n.59A=
c.186-365A=
19g.7560649A>CCA403137306PNPLA6c.3701A>C (p.Asp1234Ala)
c.3587A>C (p.Asp1196Ala)
c.3731A>C (p.Asp1244Ala)
c.3506A>C (p.Asp1169Ala)
n.59A>C
c.186-365A>C
19g.7560649A>GCA403137309PNPLA6c.3701A>G (p.Asp1234Gly)
c.3587A>G (p.Asp1196Gly)
c.3731A>G (p.Asp1244Gly)
c.3506A>G (p.Asp1169Gly)
n.59A>G
c.186-365A>G
19g.7560649A>TCA9140556PNPLA6c.3701A>T (p.Asp1234Val)
c.3587A>T (p.Asp1196Val)
c.3731A>T (p.Asp1244Val)
c.3506A>T (p.Asp1169Val)
n.59A>T
c.186-365A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560650T>ACA403137313PNPLA6c.3702T>A (p.Asp1234Glu)
c.3588T>A (p.Asp1196Glu)
c.3732T>A (p.Asp1244Glu)
c.3507T>A (p.Asp1169Glu)
n.60T>A
c.186-364T>A
19g.7560650T>CCA505245098PNPLA6c.3702T>C (p.Asp1234=)
c.3588T>C (p.Asp1196=)
c.3732T>C (p.Asp1244=)
c.3507T>C (p.Asp1169=)
n.60T>C
c.186-364T>C
19g.7560650T>GCA403137315PNPLA6c.3702T>G (p.Asp1234Glu)
c.3588T>G (p.Asp1196Glu)
c.3732T>G (p.Asp1244Glu)
c.3507T>G (p.Asp1169Glu)
n.60T>G
c.186-364T>G
19g.7560651G>ACA9140557PNPLA6c.3703G>A (p.Val1235Met)
c.3589G>A (p.Val1197Met)
c.3733G>A (p.Val1245Met)
c.3508G>A (p.Val1170Met)
n.61G>A
c.186-363G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560651G>CCA403137318PNPLA6c.3703G>C (p.Val1235Leu)
c.3589G>C (p.Val1197Leu)
c.3733G>C (p.Val1245Leu)
c.3508G>C (p.Val1170Leu)
n.61G>C
c.186-363G>C
19g.7560651G=CA2320979311PNPLA6c.3703G= (p.Val1235=)
c.3589G= (p.Val1197=)
c.3733G= (p.Val1245=)
c.3508G= (p.Val1170=)
n.61G=
c.186-363G=
19g.7560651G>TCA403137323PNPLA6c.3703G>T (p.Val1235Leu)
c.3589G>T (p.Val1197Leu)
c.3733G>T (p.Val1245Leu)
c.3508G>T (p.Val1170Leu)
n.61G>T
c.186-363G>T
19g.7560652T>ACA403137325PNPLA6c.3704T>A (p.Val1235Glu)
c.3590T>A (p.Val1197Glu)
c.3734T>A (p.Val1245Glu)
c.3509T>A (p.Val1170Glu)
n.62T>A
c.186-362T>A
19g.7560652T>CCA403137326PNPLA6c.3704T>C (p.Val1235Ala)
c.3590T>C (p.Val1197Ala)
c.3734T>C (p.Val1245Ala)
c.3509T>C (p.Val1170Ala)
n.62T>C
c.186-362T>C
19g.7560652T>GCA403137327PNPLA6c.3704T>G (p.Val1235Gly)
c.3590T>G (p.Val1197Gly)
c.3734T>G (p.Val1245Gly)
c.3509T>G (p.Val1170Gly)
n.62T>G
c.186-362T>G
19g.7560653G>ACA505245099PNPLA6c.3705G>A (p.Val1235=)
c.3591G>A (p.Val1197=)
c.3735G>A (p.Val1245=)
c.3510G>A (p.Val1170=)
n.63G>A
c.186-361G>A
19g.7560653G>CCA505245100PNPLA6c.3705G>C (p.Val1235=)
c.3591G>C (p.Val1197=)
c.3735G>C (p.Val1245=)
c.3510G>C (p.Val1170=)
n.63G>C
c.186-361G>C
19g.7560653G>TCA505245101PNPLA6c.3705G>T (p.Val1235=)
c.3591G>T (p.Val1197=)
c.3735G>T (p.Val1245=)
c.3510G>T (p.Val1170=)
n.63G>T
c.186-361G>T
19g.7560654G>ACA403137330PNPLA6c.3706G>A (p.Gly1236Ser)
c.3592G>A (p.Gly1198Ser)
c.3736G>A (p.Gly1246Ser)
c.3511G>A (p.Gly1171Ser)
n.64G>A
c.186-360G>A
19g.7560654G>CCA403137332PNPLA6c.3706G>C (p.Gly1236Arg)
c.3592G>C (p.Gly1198Arg)
c.3736G>C (p.Gly1246Arg)
c.3511G>C (p.Gly1171Arg)
n.64G>C
c.186-360G>C
19g.7560654G>TCA403137336PNPLA6c.3706G>T (p.Gly1236Cys)
c.3592G>T (p.Gly1198Cys)
c.3736G>T (p.Gly1246Cys)
c.3511G>T (p.Gly1171Cys)
n.64G>T
c.186-360G>T
 dbSNP
19g.7560655G>ACA403137339PNPLA6c.3707G>A (p.Gly1236Asp)
c.3593G>A (p.Gly1198Asp)
c.3737G>A (p.Gly1246Asp)
c.3512G>A (p.Gly1171Asp)
n.65G>A
c.186-359G>A
19g.7560655G>CCA403137340PNPLA6c.3707G>C (p.Gly1236Ala)
c.3593G>C (p.Gly1198Ala)
c.3737G>C (p.Gly1246Ala)
c.3512G>C (p.Gly1171Ala)
n.65G>C
c.186-359G>C
19g.7560655G>TCA403137341PNPLA6c.3707G>T (p.Gly1236Val)
c.3593G>T (p.Gly1198Val)
c.3737G>T (p.Gly1246Val)
c.3512G>T (p.Gly1171Val)
n.65G>T
c.186-359G>T
19g.7560656C>ACA505245102PNPLA6c.3708C>A (p.Gly1236=)
c.3594C>A (p.Gly1198=)
c.3738C>A (p.Gly1246=)
c.3513C>A (p.Gly1171=)
n.66C>A
c.186-358C>A
 gnomAD v4
19g.7560656C=CA2320979312PNPLA6c.3708C= (p.Gly1236=)
c.3594C= (p.Gly1198=)
c.3738C= (p.Gly1246=)
c.3513C= (p.Gly1171=)
n.66C=
c.186-358C=
19g.7560656C>GCA505245103PNPLA6c.3708C>G (p.Gly1236=)
c.3594C>G (p.Gly1198=)
c.3738C>G (p.Gly1246=)
c.3513C>G (p.Gly1171=)
n.66C>G
c.186-358C>G
 dbSNP
19g.7560656C>TCA505245104PNPLA6c.3708C>T (p.Gly1236=)
c.3594C>T (p.Gly1198=)
c.3738C>T (p.Gly1246=)
c.3513C>T (p.Gly1171=)
n.66C>T
c.186-358C>T
19g.7560657T>ACA403137344PNPLA6c.3709T>A (p.Tyr1237Asn)
c.3595T>A (p.Tyr1199Asn)
c.3739T>A (p.Tyr1247Asn)
c.3514T>A (p.Tyr1172Asn)
n.67T>A
c.186-357T>A
19g.7560657T>CCA403137347PNPLA6c.3709T>C (p.Tyr1237His)
c.3595T>C (p.Tyr1199His)
c.3739T>C (p.Tyr1247His)
c.3514T>C (p.Tyr1172His)
n.67T>C
c.186-357T>C
 ClinVar dbSNP
19g.7560657T>GCA403137348PNPLA6c.3709T>G (p.Tyr1237Asp)
c.3595T>G (p.Tyr1199Asp)
c.3739T>G (p.Tyr1247Asp)
c.3514T>G (p.Tyr1172Asp)
n.67T>G
c.186-357T>G
19g.7560657dupCA2587958183PNPLA6c.3709dup (p.Tyr1237LeufsTer18)
c.3595dup (p.Tyr1199LeufsTer18)
c.3739dup (p.Tyr1247LeufsTer18)
c.3514dup (p.Tyr1172LeufsTer18)
n.67dup
c.186-357dup
 gnomAD v4
19g.7560658A>CCA403137354PNPLA6c.3710A>C (p.Tyr1237Ser)
c.3596A>C (p.Tyr1199Ser)
c.3740A>C (p.Tyr1247Ser)
c.3515A>C (p.Tyr1172Ser)
n.68A>C
c.186-356A>C
19g.7560658A>GCA403137357PNPLA6c.3710A>G (p.Tyr1237Cys)
c.3596A>G (p.Tyr1199Cys)
c.3740A>G (p.Tyr1247Cys)
c.3515A>G (p.Tyr1172Cys)
n.68A>G
c.186-356A>G
19g.7560658A>TCA403137351PNPLA6c.3710A>T (p.Tyr1237Phe)
c.3596A>T (p.Tyr1199Phe)
c.3740A>T (p.Tyr1247Phe)
c.3515A>T (p.Tyr1172Phe)
n.68A>T
c.186-356A>T
19g.7560659C>ACA403137362PNPLA6c.3711C>A (p.Tyr1237Ter)
c.3597C>A (p.Tyr1199Ter)
c.3741C>A (p.Tyr1247Ter)
c.3516C>A (p.Tyr1172Ter)
n.69C>A
c.186-355C>A
 dbSNP gnomAD v2
19g.7560659C=CA2320979313PNPLA6c.3711C= (p.Tyr1237=)
c.3597C= (p.Tyr1199=)
c.3741C= (p.Tyr1247=)
c.3516C= (p.Tyr1172=)
n.69C=
c.186-355C=
19g.7560659C>GCA403137359PNPLA6c.3711C>G (p.Tyr1237Ter)
c.3597C>G (p.Tyr1199Ter)
c.3741C>G (p.Tyr1247Ter)
c.3516C>G (p.Tyr1172Ter)
n.69C>G
c.186-355C>G
19g.7560659C>TCA505245105PNPLA6c.3711C>T (p.Tyr1237=)
c.3597C>T (p.Tyr1199=)
c.3741C>T (p.Tyr1247=)
c.3516C>T (p.Tyr1172=)
n.69C>T
c.186-355C>T
 ClinVar
19g.7560660C>ACA9140559PNPLA6c.3712C>A (p.Gln1238Lys)
c.3598C>A (p.Gln1200Lys)
c.3742C>A (p.Gln1248Lys)
c.3517C>A (p.Gln1173Lys)
n.70C>A
c.186-354C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560660C=CA2320979314PNPLA6c.3712C= (p.Gln1238=)
c.3598C= (p.Gln1200=)
c.3742C= (p.Gln1248=)
c.3517C= (p.Gln1173=)
n.70C=
c.186-354C=
19g.7560660C>GCA9140558PNPLA6c.3712C>G (p.Gln1238Glu)
c.3598C>G (p.Gln1200Glu)
c.3742C>G (p.Gln1248Glu)
c.3517C>G (p.Gln1173Glu)
n.70C>G
c.186-354C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560660C>TCA403137365PNPLA6c.3712C>T (p.Gln1238Ter)
c.3598C>T (p.Gln1200Ter)
c.3742C>T (p.Gln1248Ter)
c.3517C>T (p.Gln1173Ter)
n.70C>T
c.186-354C>T
19g.7560661A>CCA403137371PNPLA6c.3713A>C (p.Gln1238Pro)
c.3599A>C (p.Gln1200Pro)
c.3743A>C (p.Gln1248Pro)
c.3518A>C (p.Gln1173Pro)
n.71A>C
c.186-353A>C
19g.7560661A>GCA403137373PNPLA6c.3713A>G (p.Gln1238Arg)
c.3599A>G (p.Gln1200Arg)
c.3743A>G (p.Gln1248Arg)
c.3518A>G (p.Gln1173Arg)
n.71A>G
c.186-353A>G
 gnomAD v4
19g.7560661A>TCA403137375PNPLA6c.3713A>T (p.Gln1238Leu)
c.3599A>T (p.Gln1200Leu)
c.3743A>T (p.Gln1248Leu)
c.3518A>T (p.Gln1173Leu)
n.71A>T
c.186-353A>T
19g.7560662G>ACA505245106PNPLA6c.3714G>A (p.Gln1238=)
c.3600G>A (p.Gln1200=)
c.3744G>A (p.Gln1248=)
c.3519G>A (p.Gln1173=)
n.72G>A
c.186-352G>A
 gnomAD v4
19g.7560662G>CCA403137378PNPLA6c.3714G>C (p.Gln1238His)
c.3600G>C (p.Gln1200His)
c.3744G>C (p.Gln1248His)
c.3519G>C (p.Gln1173His)
n.72G>C
c.186-352G>C
19g.7560662G>TCA403137381PNPLA6c.3714G>T (p.Gln1238His)
c.3600G>T (p.Gln1200His)
c.3744G>T (p.Gln1248His)
c.3519G>T (p.Gln1173His)
n.72G>T
c.186-352G>T
 COSMIC COSMIC
19g.7560663T>ACA403137383PNPLA6c.3715T>A (p.Tyr1239Asn)
c.3601T>A (p.Tyr1201Asn)
c.3745T>A (p.Tyr1249Asn)
c.3520T>A (p.Tyr1174Asn)
n.73T>A
c.186-351T>A
19g.7560663T>CCA403137386PNPLA6c.3715T>C (p.Tyr1239His)
c.3601T>C (p.Tyr1201His)
c.3745T>C (p.Tyr1249His)
c.3520T>C (p.Tyr1174His)
n.73T>C
c.186-351T>C
19g.7560663T>GCA403137388PNPLA6c.3715T>G (p.Tyr1239Asp)
c.3601T>G (p.Tyr1201Asp)
c.3745T>G (p.Tyr1249Asp)
c.3520T>G (p.Tyr1174Asp)
n.73T>G
c.186-351T>G
19g.7560664A>CCA403137391PNPLA6c.3716A>C (p.Tyr1239Ser)
c.3602A>C (p.Tyr1201Ser)
c.3746A>C (p.Tyr1249Ser)
c.3521A>C (p.Tyr1174Ser)
n.74A>C
c.186-350A>C
19g.7560664A>GCA403137393PNPLA6c.3716A>G (p.Tyr1239Cys)
c.3602A>G (p.Tyr1201Cys)
c.3746A>G (p.Tyr1249Cys)
c.3521A>G (p.Tyr1174Cys)
n.74A>G
c.186-350A>G
19g.7560664A>TCA403137397PNPLA6c.3716A>T (p.Tyr1239Phe)
c.3602A>T (p.Tyr1201Phe)
c.3746A>T (p.Tyr1249Phe)
c.3521A>T (p.Tyr1174Phe)
n.74A>T
c.186-350A>T
19g.7560665C>ACA403137402PNPLA6c.3717C>A (p.Tyr1239Ter)
c.3603C>A (p.Tyr1201Ter)
c.3747C>A (p.Tyr1249Ter)
c.3522C>A (p.Tyr1174Ter)
n.75C>A
c.186-349C>A
19g.7560665C=CA2320979315PNPLA6c.3717C= (p.Tyr1239=)
c.3603C= (p.Tyr1201=)
c.3747C= (p.Tyr1249=)
c.3522C= (p.Tyr1174=)
n.75C=
c.186-349C=
19g.7560665C>GCA403137398PNPLA6c.3717C>G (p.Tyr1239Ter)
c.3603C>G (p.Tyr1201Ter)
c.3747C>G (p.Tyr1249Ter)
c.3522C>G (p.Tyr1174Ter)
n.75C>G
c.186-349C>G
19g.7560665C>TCA9140560PNPLA6c.3717C>T (p.Tyr1239=)
c.3603C>T (p.Tyr1201=)
c.3747C>T (p.Tyr1249=)
c.3522C>T (p.Tyr1174=)
n.75C>T
c.186-349C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7560665_7560666delinsCGCA2320979316PNPLA6c.3717_3718delinsCG (p.Tyr1239=)
c.3603_3604delinsCG (p.Tyr1201=)
c.3747_3748delinsCG (p.Tyr1249=)
c.3522_3523delinsCG (p.Tyr1174=)
n.75_76delinsCG
c.186-349_186-348delinsCG
19g.7560666G>ACA9140561PNPLA6c.3718G>A (p.Gly1240Arg)
c.3604G>A (p.Gly1202Arg)
c.3748G>A (p.Gly1250Arg)
c.3523G>A (p.Gly1175Arg)
n.76G>A
c.186-348G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560666G>CCA403137406PNPLA6c.3718G>C (p.Gly1240Arg)
c.3604G>C (p.Gly1202Arg)
c.3748G>C (p.Gly1250Arg)
c.3523G>C (p.Gly1175Arg)
n.76G>C
c.186-348G>C
19g.7560666G=CA2320979318PNPLA6c.3718G= (p.Gly1240=)
c.3604G= (p.Gly1202=)
c.3748G= (p.Gly1250=)
c.3523G= (p.Gly1175=)
n.76G=
c.186-348G=
19g.7560666G>TCA403137408PNPLA6c.3718G>T (p.Gly1240Trp)
c.3604G>T (p.Gly1202Trp)
c.3748G>T (p.Gly1250Trp)
c.3523G>T (p.Gly1175Trp)
n.76G>T
c.186-348G>T
19g.7560668delCA2320979317PNPLA6c.3720del (p.Lys1241ArgfsTer?)
c.3606del (p.Lys1203ArgfsTer?)
c.3750del (p.Lys1251ArgfsTer?)
c.3525del (p.Lys1176ArgfsTer?)
n.78del
c.186-346del
 dbSNP gnomAD v4
19g.7560667G>ACA403137412PNPLA6c.3719G>A (p.Gly1240Glu)
c.3605G>A (p.Gly1202Glu)
c.3749G>A (p.Gly1250Glu)
c.3524G>A (p.Gly1175Glu)
n.77G>A
c.186-347G>A
19g.7560667G>CCA403137418PNPLA6c.3719G>C (p.Gly1240Ala)
c.3605G>C (p.Gly1202Ala)
c.3749G>C (p.Gly1250Ala)
c.3524G>C (p.Gly1175Ala)
n.77G>C
c.186-347G>C
 dbSNP
19g.7560667G=CA2320979319PNPLA6c.3719G= (p.Gly1240=)
c.3605G= (p.Gly1202=)
c.3749G= (p.Gly1250=)
c.3524G= (p.Gly1175=)
n.77G=
c.186-347G=
19g.7560667G>TCA403137420PNPLA6c.3719G>T (p.Gly1240Val)
c.3605G>T (p.Gly1202Val)
c.3749G>T (p.Gly1250Val)
c.3524G>T (p.Gly1175Val)
n.77G>T
c.186-347G>T
19g.7560668G>ACA505245109PNPLA6c.3720G>A (p.Gly1240=)
c.3606G>A (p.Gly1202=)
c.3750G>A (p.Gly1250=)
c.3525G>A (p.Gly1175=)
n.78G>A
c.186-346G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
19g.7560668G>CCA505245108PNPLA6c.3720G>C (p.Gly1240=)
c.3606G>C (p.Gly1202=)
c.3750G>C (p.Gly1250=)
c.3525G>C (p.Gly1175=)
n.78G>C
c.186-346G>C
19g.7560668G=CA2320979320PNPLA6c.3720G= (p.Gly1240=)
c.3606G= (p.Gly1202=)
c.3750G= (p.Gly1250=)
c.3525G= (p.Gly1175=)
n.78G=
c.186-346G=
19g.7560668G>TCA505245107PNPLA6c.3720G>T (p.Gly1240=)
c.3606G>T (p.Gly1202=)
c.3750G>T (p.Gly1250=)
c.3525G>T (p.Gly1175=)
n.78G>T
c.186-346G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7560669A>CCA403137423PNPLA6c.3721A>C (p.Lys1241Gln)
c.3607A>C (p.Lys1203Gln)
c.3751A>C (p.Lys1251Gln)
c.3526A>C (p.Lys1176Gln)
n.79A>C
c.186-345A>C
 gnomAD v4
19g.7560669A>GCA403137426PNPLA6c.3721A>G (p.Lys1241Glu)
c.3607A>G (p.Lys1203Glu)
c.3751A>G (p.Lys1251Glu)
c.3526A>G (p.Lys1176Glu)
n.79A>G
c.186-345A>G
19g.7560669A>TCA403137428PNPLA6c.3721A>T (p.Lys1241Ter)
c.3607A>T (p.Lys1203Ter)
c.3751A>T (p.Lys1251Ter)
c.3526A>T (p.Lys1176Ter)
n.79A>T
c.186-345A>T
19g.7560670A=CA2320979321PNPLA6c.3722A= (p.Lys1241=)
c.3608A= (p.Lys1203=)
c.3752A= (p.Lys1251=)
c.3527A= (p.Lys1176=)
n.80A=
c.186-344A=
19g.7560670A>CCA403137431PNPLA6c.3722A>C (p.Lys1241Thr)
c.3608A>C (p.Lys1203Thr)
c.3752A>C (p.Lys1251Thr)
c.3527A>C (p.Lys1176Thr)
n.80A>C
c.186-344A>C
19g.7560670A>GCA403137433PNPLA6c.3722A>G (p.Lys1241Arg)
c.3608A>G (p.Lys1203Arg)
c.3752A>G (p.Lys1251Arg)
c.3527A>G (p.Lys1176Arg)
n.80A>G
c.186-344A>G
 dbSNP gnomAD v2 gnomAD v4
19g.7560670A>TCA403137435PNPLA6c.3722A>T (p.Lys1241Met)
c.3608A>T (p.Lys1203Met)
c.3752A>T (p.Lys1251Met)
c.3527A>T (p.Lys1176Met)
n.80A>T
c.186-344A>T
19g.7560671G>ACA505245111PNPLA6c.3723G>A (p.Lys1241=)
c.3609G>A (p.Lys1203=)
c.3753G>A (p.Lys1251=)
c.3528G>A (p.Lys1176=)
n.81G>A
c.186-343G>A
 dbSNP gnomAD v4
19g.7560671G>CCA403137441PNPLA6c.3723G>C (p.Lys1241Asn)
c.3609G>C (p.Lys1203Asn)
c.3753G>C (p.Lys1251Asn)
c.3528G>C (p.Lys1176Asn)
n.81G>C
c.186-343G>C
 ClinVar dbSNP gnomAD v4
19g.7560671G=CA2320979322PNPLA6c.3723G= (p.Lys1241=)
c.3609G= (p.Lys1203=)
c.3753G= (p.Lys1251=)
c.3528G= (p.Lys1176=)
n.81G=
c.186-343G=
19g.7560671G>TCA403137438PNPLA6c.3723G>T (p.Lys1241Asn)
c.3609G>T (p.Lys1203Asn)
c.3753G>T (p.Lys1251Asn)
c.3528G>T (p.Lys1176Asn)
n.81G>T
c.186-343G>T
19g.7560672G>ACA9140562PNPLA6c.3724G>A (p.Ala1242Thr)
c.3610G>A (p.Ala1204Thr)
c.3754G>A (p.Ala1252Thr)
c.3529G>A (p.Ala1177Thr)
n.82G>A
c.186-342G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560672G>CCA403137444PNPLA6c.3724G>C (p.Ala1242Pro)
c.3610G>C (p.Ala1204Pro)
c.3754G>C (p.Ala1252Pro)
c.3529G>C (p.Ala1177Pro)
n.82G>C
c.186-342G>C
19g.7560672G=CA2320979323PNPLA6c.3724G= (p.Ala1242=)
c.3610G= (p.Ala1204=)
c.3754G= (p.Ala1252=)
c.3529G= (p.Ala1177=)
n.82G=
c.186-342G=
19g.7560672G>TCA403137446PNPLA6c.3724G>T (p.Ala1242Ser)
c.3610G>T (p.Ala1204Ser)
c.3754G>T (p.Ala1252Ser)
c.3529G>T (p.Ala1177Ser)
n.82G>T
c.186-342G>T
19g.7560673C>ACA403137448PNPLA6c.3725C>A (p.Ala1242Glu)
c.3611C>A (p.Ala1204Glu)
c.3755C>A (p.Ala1252Glu)
c.3530C>A (p.Ala1177Glu)
n.83C>A
c.186-341C>A
 dbSNP
19g.7560673C=CA2320979324PNPLA6c.3725C= (p.Ala1242=)
c.3611C= (p.Ala1204=)
c.3755C= (p.Ala1252=)
c.3530C= (p.Ala1177=)
n.83C=
c.186-341C=
19g.7560673C>GCA403137450PNPLA6c.3725C>G (p.Ala1242Gly)
c.3611C>G (p.Ala1204Gly)
c.3755C>G (p.Ala1252Gly)
c.3530C>G (p.Ala1177Gly)
n.83C>G
c.186-341C>G
19g.7560673C>TCA9140563PNPLA6c.3725C>T (p.Ala1242Val)
c.3611C>T (p.Ala1204Val)
c.3755C>T (p.Ala1252Val)
c.3530C>T (p.Ala1177Val)
n.83C>T
c.186-341C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560674G>ACA9140564PNPLA6c.3726G>A (p.Ala1242=)
c.3612G>A (p.Ala1204=)
c.3756G>A (p.Ala1252=)
c.3531G>A (p.Ala1177=)
n.84G>A
c.186-340G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560674G>CCA505245112PNPLA6c.3726G>C (p.Ala1242=)
c.3612G>C (p.Ala1204=)
c.3756G>C (p.Ala1252=)
c.3531G>C (p.Ala1177=)
n.84G>C
c.186-340G>C
19g.7560674G=CA2320979325PNPLA6c.3726G= (p.Ala1242=)
c.3612G= (p.Ala1204=)
c.3756G= (p.Ala1252=)
c.3531G= (p.Ala1177=)
n.84G=
c.186-340G=
19g.7560674G>TCA505245113PNPLA6c.3726G>T (p.Ala1242=)
c.3612G>T (p.Ala1204=)
c.3756G>T (p.Ala1252=)
c.3531G>T (p.Ala1177=)
n.84G>T
c.186-340G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7560675G>ACA403137456PNPLA6c.3727G>A (p.Val1243Met)
c.3613G>A (p.Val1205Met)
c.3757G>A (p.Val1253Met)
c.3532G>A (p.Val1178Met)
n.85G>A
c.186-339G>A
19g.7560675G>CCA9140565PNPLA6c.3727G>C (p.Val1243Leu)
c.3613G>C (p.Val1205Leu)
c.3757G>C (p.Val1253Leu)
c.3532G>C (p.Val1178Leu)
n.85G>C
c.186-339G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560675G=CA2320979326PNPLA6c.3727G= (p.Val1243=)
c.3613G= (p.Val1205=)
c.3757G= (p.Val1253=)
c.3532G= (p.Val1178=)
n.85G=
c.186-339G=
19g.7560675G>TCA403137460PNPLA6c.3727G>T (p.Val1243Leu)
c.3613G>T (p.Val1205Leu)
c.3757G>T (p.Val1253Leu)
c.3532G>T (p.Val1178Leu)
n.85G>T
c.186-339G>T
 gnomAD v4
19g.7560676T>ACA403137463PNPLA6c.3728T>A (p.Val1243Glu)
c.3614T>A (p.Val1205Glu)
c.3758T>A (p.Val1253Glu)
c.3533T>A (p.Val1178Glu)
n.86T>A
c.186-338T>A
19g.7560676T>CCA9140566PNPLA6c.3728T>C (p.Val1243Ala)
c.3614T>C (p.Val1205Ala)
c.3758T>C (p.Val1253Ala)
c.3533T>C (p.Val1178Ala)
n.86T>C
c.186-338T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560676T>GCA403137467PNPLA6c.3728T>G (p.Val1243Gly)
c.3614T>G (p.Val1205Gly)
c.3758T>G (p.Val1253Gly)
c.3533T>G (p.Val1178Gly)
n.86T>G
c.186-338T>G
19g.7560676T=CA2320979327PNPLA6c.3728T= (p.Val1243=)
c.3614T= (p.Val1205=)
c.3758T= (p.Val1253=)
c.3533T= (p.Val1178=)
n.86T=
c.186-338T=
19g.7560677G>ACA505245114PNPLA6c.3729G>A (p.Val1243=)
c.3615G>A (p.Val1205=)
c.3759G>A (p.Val1253=)
c.3534G>A (p.Val1178=)
n.87G>A
c.186-337G>A
19g.7560677G>CCA505245115PNPLA6c.3729G>C (p.Val1243=)
c.3615G>C (p.Val1205=)
c.3759G>C (p.Val1253=)
c.3534G>C (p.Val1178=)
n.87G>C
c.186-337G>C
19g.7560677G>TCA505245116PNPLA6c.3729G>T (p.Val1243=)
c.3615G>T (p.Val1205=)
c.3759G>T (p.Val1253=)
c.3534G>T (p.Val1178=)
n.87G>T
c.186-337G>T
19g.7560678T>ACA403137475PNPLA6c.3730T>A (p.Phe1244Ile)
c.3616T>A (p.Phe1206Ile)
c.3760T>A (p.Phe1254Ile)
c.3535T>A (p.Phe1179Ile)
n.88T>A
c.186-336T>A
19g.7560678T>CCA403137472PNPLA6c.3730T>C (p.Phe1244Leu)
c.3616T>C (p.Phe1206Leu)
c.3760T>C (p.Phe1254Leu)
c.3535T>C (p.Phe1179Leu)
n.88T>C
c.186-336T>C
19g.7560678T>GCA403137471PNPLA6c.3730T>G (p.Phe1244Val)
c.3616T>G (p.Phe1206Val)
c.3760T>G (p.Phe1254Val)
c.3535T>G (p.Phe1179Val)
n.88T>G
c.186-336T>G
19g.7560679T>ACA403137478PNPLA6c.3731T>A (p.Phe1244Tyr)
c.3617T>A (p.Phe1206Tyr)
c.3761T>A (p.Phe1254Tyr)
c.3536T>A (p.Phe1179Tyr)
n.89T>A
c.186-335T>A
19g.7560679T>CCA403137480PNPLA6c.3731T>C (p.Phe1244Ser)
c.3617T>C (p.Phe1206Ser)
c.3761T>C (p.Phe1254Ser)
c.3536T>C (p.Phe1179Ser)
n.89T>C
c.186-335T>C
19g.7560679T>GCA403137482PNPLA6c.3731T>G (p.Phe1244Cys)
c.3617T>G (p.Phe1206Cys)
c.3761T>G (p.Phe1254Cys)
c.3536T>G (p.Phe1179Cys)
n.89T>G
c.186-335T>G
19g.7560680T>ACA403137486PNPLA6c.3732T>A (p.Phe1244Leu)
c.3618T>A (p.Phe1206Leu)
c.3762T>A (p.Phe1254Leu)
c.3537T>A (p.Phe1179Leu)
n.90T>A
c.186-334T>A
19g.7560680T>CCA304882912PNPLA6c.3732T>C (p.Phe1244=)
c.3618T>C (p.Phe1206=)
c.3762T>C (p.Phe1254=)
c.3537T>C (p.Phe1179=)
n.90T>C
c.186-334T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7560680T>GCA403137489PNPLA6c.3732T>G (p.Phe1244Leu)
c.3618T>G (p.Phe1206Leu)
c.3762T>G (p.Phe1254Leu)
c.3537T>G (p.Phe1179Leu)
n.90T>G
c.186-334T>G
 gnomAD v4
19g.7560680T=CA2320979328PNPLA6c.3732T= (p.Phe1244=)
c.3618T= (p.Phe1206=)
c.3762T= (p.Phe1254=)
c.3537T= (p.Phe1179=)
n.90T=
c.186-334T=
19g.7560681G>ACA403137493PNPLA6c.3733G>A (p.Gly1245Arg)
c.3619G>A (p.Gly1207Arg)
c.3763G>A (p.Gly1255Arg)
c.3538G>A (p.Gly1180Arg)
n.91G>A
c.186-333G>A
19g.7560681G>CCA403137495PNPLA6c.3733G>C (p.Gly1245Arg)
c.3619G>C (p.Gly1207Arg)
c.3763G>C (p.Gly1255Arg)
c.3538G>C (p.Gly1180Arg)
n.91G>C
c.186-333G>C
 dbSNP gnomAD v3 gnomAD v4
19g.7560681G=CA2320979329PNPLA6c.3733G= (p.Gly1245=)
c.3619G= (p.Gly1207=)
c.3763G= (p.Gly1255=)
c.3538G= (p.Gly1180=)
n.91G=
c.186-333G=
19g.7560681G>TCA403137498PNPLA6c.3733G>T (p.Gly1245Ter)
c.3619G>T (p.Gly1207Ter)
c.3763G>T (p.Gly1255Ter)
c.3538G>T (p.Gly1180Ter)
n.91G>T
c.186-333G>T
19g.7560682G>ACA403137501PNPLA6c.3734G>A (p.Gly1245Glu)
c.3620G>A (p.Gly1207Glu)
c.3764G>A (p.Gly1255Glu)
c.3539G>A (p.Gly1180Glu)
n.92G>A
c.186-332G>A
 COSMIC COSMIC
19g.7560682G>CCA403137504PNPLA6c.3734G>C (p.Gly1245Ala)
c.3620G>C (p.Gly1207Ala)
c.3764G>C (p.Gly1255Ala)
c.3539G>C (p.Gly1180Ala)
n.92G>C
c.186-332G>C
19g.7560682G>TCA403137506PNPLA6c.3734G>T (p.Gly1245Val)
c.3620G>T (p.Gly1207Val)
c.3764G>T (p.Gly1255Val)
c.3539G>T (p.Gly1180Val)
n.92G>T
c.186-332G>T
19g.7560683A>CCA505245117PNPLA6c.3735A>C (p.Gly1245=)
c.3621A>C (p.Gly1207=)
c.3765A>C (p.Gly1255=)
c.3540A>C (p.Gly1180=)
n.93A>C
c.186-331A>C
19g.7560683A>GCA505245118PNPLA6c.3735A>G (p.Gly1245=)
c.3621A>G (p.Gly1207=)
c.3765A>G (p.Gly1255=)
c.3540A>G (p.Gly1180=)
n.93A>G
c.186-331A>G
19g.7560683A>TCA505245119PNPLA6c.3735A>T (p.Gly1245=)
c.3621A>T (p.Gly1207=)
c.3765A>T (p.Gly1255=)
c.3540A>T (p.Gly1180=)
n.93A>T
c.186-331A>T
19g.7560684G>ACA403137510PNPLA6c.3736G>A (p.Gly1246Ser)
c.3622G>A (p.Gly1208Ser)
c.3766G>A (p.Gly1256Ser)
c.3541G>A (p.Gly1181Ser)
n.94G>A
c.186-330G>A
19g.7560684G>CCA403137512PNPLA6c.3736G>C (p.Gly1246Arg)
c.3622G>C (p.Gly1208Arg)
c.3766G>C (p.Gly1256Arg)
c.3541G>C (p.Gly1181Arg)
n.94G>C
c.186-330G>C
19g.7560684G>TCA403137515PNPLA6c.3736G>T (p.Gly1246Cys)
c.3622G>T (p.Gly1208Cys)
c.3766G>T (p.Gly1256Cys)
c.3541G>T (p.Gly1181Cys)
n.94G>T
c.186-330G>T
19g.7560685G>ACA403137522PNPLA6c.3737G>A (p.Gly1246Asp)
c.3623G>A (p.Gly1208Asp)
c.3767G>A (p.Gly1256Asp)
c.3542G>A (p.Gly1181Asp)
n.95G>A
c.186-329G>A
 gnomAD v4
19g.7560685G>CCA403137525PNPLA6c.3737G>C (p.Gly1246Ala)
c.3623G>C (p.Gly1208Ala)
c.3767G>C (p.Gly1256Ala)
c.3542G>C (p.Gly1181Ala)
n.95G>C
c.186-329G>C
19g.7560685G>TCA403137519PNPLA6c.3737G>T (p.Gly1246Val)
c.3623G>T (p.Gly1208Val)
c.3767G>T (p.Gly1256Val)
c.3542G>T (p.Gly1181Val)
n.95G>T
c.186-329G>T
19g.7560686C>ACA505245120PNPLA6c.3738C>A (p.Gly1246=)
c.3624C>A (p.Gly1208=)
c.3768C>A (p.Gly1256=)
c.3543C>A (p.Gly1181=)
n.96C>A
c.186-328C>A
 gnomAD v4
19g.7560686C>GCA505245123PNPLA6c.3738C>G (p.Gly1246=)
c.3624C>G (p.Gly1208=)
c.3768C>G (p.Gly1256=)
c.3543C>G (p.Gly1181=)
n.96C>G
c.186-328C>G
19g.7560686C>TCA505245121PNPLA6c.3738C>T (p.Gly1246=)
c.3624C>T (p.Gly1208=)
c.3768C>T (p.Gly1256=)
c.3543C>T (p.Gly1181=)
n.96C>T
c.186-328C>T
19g.7560687T>ACA403137529PNPLA6c.3739T>A (p.Trp1247Arg)
c.3625T>A (p.Trp1209Arg)
c.3769T>A (p.Trp1257Arg)
c.3544T>A (p.Trp1182Arg)
n.97T>A
c.186-327T>A
19g.7560687T>CCA9140567PNPLA6c.3739T>C (p.Trp1247Arg)
c.3625T>C (p.Trp1209Arg)
c.3769T>C (p.Trp1257Arg)
c.3544T>C (p.Trp1182Arg)
n.97T>C
c.186-327T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560687T>GCA403137532PNPLA6c.3739T>G (p.Trp1247Gly)
c.3625T>G (p.Trp1209Gly)
c.3769T>G (p.Trp1257Gly)
c.3544T>G (p.Trp1182Gly)
n.97T>G
c.186-327T>G
19g.7560687T=CA2320979330PNPLA6c.3739T= (p.Trp1247=)
c.3625T= (p.Trp1209=)
c.3769T= (p.Trp1257=)
c.3544T= (p.Trp1182=)
n.97T=
c.186-327T=
19g.7560688G>ACA403137542PNPLA6c.3740G>A (p.Trp1247Ter)
c.3626G>A (p.Trp1209Ter)
c.3770G>A (p.Trp1257Ter)
c.3545G>A (p.Trp1182Ter)
n.98G>A
c.186-326G>A
19g.7560688G>CCA403137544PNPLA6c.3740G>C (p.Trp1247Ser)
c.3626G>C (p.Trp1209Ser)
c.3770G>C (p.Trp1257Ser)
c.3545G>C (p.Trp1182Ser)
n.98G>C
c.186-326G>C
19g.7560688G>TCA403137548PNPLA6c.3740G>T (p.Trp1247Leu)
c.3626G>T (p.Trp1209Leu)
c.3770G>T (p.Trp1257Leu)
c.3545G>T (p.Trp1182Leu)
n.98G>T
c.186-326G>T
19g.7560689G>ACA403137551PNPLA6c.3741G>A (p.Trp1247Ter)
c.3627G>A (p.Trp1209Ter)
c.3771G>A (p.Trp1257Ter)
c.3546G>A (p.Trp1182Ter)
n.99G>A
c.186-325G>A
19g.7560689G>CCA403137554PNPLA6c.3741G>C (p.Trp1247Cys)
c.3627G>C (p.Trp1209Cys)
c.3771G>C (p.Trp1257Cys)
c.3546G>C (p.Trp1182Cys)
n.99G>C
c.186-325G>C
19g.7560689G>TCA403137557PNPLA6c.3741G>T (p.Trp1247Cys)
c.3627G>T (p.Trp1209Cys)
c.3771G>T (p.Trp1257Cys)
c.3546G>T (p.Trp1182Cys)
n.99G>T
c.186-325G>T
19g.7560690A=CA2320979331PNPLA6c.3742A= (p.Ser1248=)
c.3628A= (p.Ser1210=)
c.3772A= (p.Ser1258=)
c.3547A= (p.Ser1183=)
n.100A=
c.186-324A=
19g.7560690A>CCA403137560PNPLA6c.3742A>C (p.Ser1248Arg)
c.3628A>C (p.Ser1210Arg)
c.3772A>C (p.Ser1258Arg)
c.3547A>C (p.Ser1183Arg)
n.100A>C
c.186-324A>C
19g.7560690A>GCA403137563PNPLA6c.3742A>G (p.Ser1248Gly)
c.3628A>G (p.Ser1210Gly)
c.3772A>G (p.Ser1258Gly)
c.3547A>G (p.Ser1183Gly)
n.100A>G
c.186-324A>G
 dbSNP
19g.7560690A>TCA403137565PNPLA6c.3742A>T (p.Ser1248Cys)
c.3628A>T (p.Ser1210Cys)
c.3772A>T (p.Ser1258Cys)
c.3547A>T (p.Ser1183Cys)
n.100A>T
c.186-324A>T
19g.7560691G>ACA403137568PNPLA6c.3743G>A (p.Ser1248Asn)
c.3629G>A (p.Ser1210Asn)
c.3773G>A (p.Ser1258Asn)
c.3548G>A (p.Ser1183Asn)
n.101G>A
c.186-323G>A
19g.7560691G>CCA403137571PNPLA6c.3743G>C (p.Ser1248Thr)
c.3629G>C (p.Ser1210Thr)
c.3773G>C (p.Ser1258Thr)
c.3548G>C (p.Ser1183Thr)
n.101G>C
c.186-323G>C
19g.7560691G>TCA403137573PNPLA6c.3743G>T (p.Ser1248Ile)
c.3629G>T (p.Ser1210Ile)
c.3773G>T (p.Ser1258Ile)
c.3548G>T (p.Ser1183Ile)
n.101G>T
c.186-323G>T
19g.7560692C>ACA403137577PNPLA6c.3744C>A (p.Ser1248Arg)
c.3630C>A (p.Ser1210Arg)
c.3774C>A (p.Ser1258Arg)
c.3549C>A (p.Ser1183Arg)
n.102C>A
c.186-322C>A
19g.7560692C=CA2320979332PNPLA6c.3744C= (p.Ser1248=)
c.3630C= (p.Ser1210=)
c.3774C= (p.Ser1258=)
c.3549C= (p.Ser1183=)
n.102C=
c.186-322C=
19g.7560692C>GCA403137575PNPLA6c.3744C>G (p.Ser1248Arg)
c.3630C>G (p.Ser1210Arg)
c.3774C>G (p.Ser1258Arg)
c.3549C>G (p.Ser1183Arg)
n.102C>G
c.186-322C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.7560692C>TCA304882915PNPLA6c.3744C>T (p.Ser1248=)
c.3630C>T (p.Ser1210=)
c.3774C>T (p.Ser1258=)
c.3549C>T (p.Ser1183=)
n.102C>T
c.186-322C>T
 dbSNP gnomAD v4
19g.7560693C>ACA403137580PNPLA6c.3745C>A (p.Arg1249Ser)
c.3631C>A (p.Arg1211Ser)
c.3775C>A (p.Arg1259Ser)
c.3550C>A (p.Arg1184Ser)
n.103C>A
c.186-321C>A
19g.7560693C=CA2320979333PNPLA6c.3745C= (p.Arg1249=)
c.3631C= (p.Arg1211=)
c.3775C= (p.Arg1259=)
c.3550C= (p.Arg1184=)
n.103C=
c.186-321C=
19g.7560693C>GCA403137581PNPLA6c.3745C>G (p.Arg1249Gly)
c.3631C>G (p.Arg1211Gly)
c.3775C>G (p.Arg1259Gly)
c.3550C>G (p.Arg1184Gly)
n.103C>G
c.186-321C>G
19g.7560693C>TCA9140568PNPLA6c.3745C>T (p.Arg1249Cys)
c.3631C>T (p.Arg1211Cys)
c.3775C>T (p.Arg1259Cys)
c.3550C>T (p.Arg1184Cys)
n.103C>T
c.186-321C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560694G>ACA9140569PNPLA6c.3746G>A (p.Arg1249His)
c.3632G>A (p.Arg1211His)
c.3776G>A (p.Arg1259His)
c.3551G>A (p.Arg1184His)
n.104G>A
c.186-320G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.7560694G>CCA403137589PNPLA6c.3746G>C (p.Arg1249Pro)
c.3632G>C (p.Arg1211Pro)
c.3776G>C (p.Arg1259Pro)
c.3551G>C (p.Arg1184Pro)
n.104G>C
c.186-320G>C
19g.7560694G=CA2320979334PNPLA6c.3746G= (p.Arg1249=)
c.3632G= (p.Arg1211=)
c.3776G= (p.Arg1259=)
c.3551G= (p.Arg1184=)
n.104G=
c.186-320G=
19g.7560694G>TCA403137591PNPLA6c.3746G>T (p.Arg1249Leu)
c.3632G>T (p.Arg1211Leu)
c.3776G>T (p.Arg1259Leu)
c.3551G>T (p.Arg1184Leu)
n.104G>T
c.186-320G>T
19g.7560695T>ACA505245132PNPLA6c.3747T>A (p.Arg1249=)
c.3633T>A (p.Arg1211=)
c.3777T>A (p.Arg1259=)
c.3552T>A (p.Arg1184=)
n.105T>A
c.186-319T>A
19g.7560695T>CCA505245134PNPLA6c.3747T>C (p.Arg1249=)
c.3633T>C (p.Arg1211=)
c.3777T>C (p.Arg1259=)
c.3552T>C (p.Arg1184=)
n.105T>C
c.186-319T>C
19g.7560695T>GCA505245135PNPLA6c.3747T>G (p.Arg1249=)
c.3633T>G (p.Arg1211=)
c.3777T>G (p.Arg1259=)
c.3552T>G (p.Arg1184=)
n.105T>G
c.186-319T>G
19g.7560696G>ACA403137593PNPLA6c.3748G>A (p.Gly1250Ser)
c.3634G>A (p.Gly1212Ser)
c.3778G>A (p.Gly1260Ser)
c.3553G>A (p.Gly1185Ser)
n.106G>A
c.186-318G>A
19g.7560696G>CCA403137596PNPLA6c.3748G>C (p.Gly1250Arg)
c.3634G>C (p.Gly1212Arg)
c.3778G>C (p.Gly1260Arg)
c.3553G>C (p.Gly1185Arg)
n.106G>C
c.186-318G>C
19g.7560696G>TCA403137598PNPLA6c.3748G>T (p.Gly1250Cys)
c.3634G>T (p.Gly1212Cys)
c.3778G>T (p.Gly1260Cys)
c.3553G>T (p.Gly1185Cys)
n.106G>T
c.186-318G>T
19g.7560697G>ACA403137602PNPLA6c.3749G>A (p.Gly1250Asp)
c.3635G>A (p.Gly1212Asp)
c.3779G>A (p.Gly1260Asp)
c.3554G>A (p.Gly1185Asp)
n.107G>A
c.186-317G>A
 gnomAD v4
19g.7560697G>CCA403137604PNPLA6c.3749G>C (p.Gly1250Ala)
c.3635G>C (p.Gly1212Ala)
c.3779G>C (p.Gly1260Ala)
c.3554G>C (p.Gly1185Ala)
n.107G>C
c.186-317G>C
19g.7560697G>TCA403137606PNPLA6c.3749G>T (p.Gly1250Val)
c.3635G>T (p.Gly1212Val)
c.3779G>T (p.Gly1260Val)
c.3554G>T (p.Gly1185Val)
n.107G>T
c.186-317G>T
19g.7560698C>ACA505245145PNPLA6c.3750C>A (p.Gly1250=)
c.3636C>A (p.Gly1212=)
c.3780C>A (p.Gly1260=)
c.3555C>A (p.Gly1185=)
n.108C>A
c.186-316C>A
 dbSNP
19g.7560698C=CA2320979335PNPLA6c.3750C= (p.Gly1250=)
c.3636C= (p.Gly1212=)
c.3780C= (p.Gly1260=)
c.3555C= (p.Gly1185=)
n.108C=
c.186-316C=
19g.7560698C>GCA505245146PNPLA6c.3750C>G (p.Gly1250=)
c.3636C>G (p.Gly1212=)
c.3780C>G (p.Gly1260=)
c.3555C>G (p.Gly1185=)
n.108C>G
c.186-316C>G
19g.7560698C>TCA505245148PNPLA6c.3750C>T (p.Gly1250=)
c.3636C>T (p.Gly1212=)
c.3780C>T (p.Gly1260=)
c.3555C>T (p.Gly1185=)
n.108C>T
c.186-316C>T
 dbSNP gnomAD v2 gnomAD v4
19g.7560699A>CCA403137614PNPLA6c.3751A>C (p.Asn1251His)
c.3637A>C (p.Asn1213His)
c.3781A>C (p.Asn1261His)
c.3556A>C (p.Asn1186His)
n.109A>C
c.186-315A>C
19g.7560699A>GCA403137612PNPLA6c.3751A>G (p.Asn1251Asp)
c.3637A>G (p.Asn1213Asp)
c.3781A>G (p.Asn1261Asp)
c.3556A>G (p.Asn1186Asp)
n.109A>G
c.186-315A>G
19g.7560699A>TCA403137610PNPLA6c.3751A>T (p.Asn1251Tyr)
c.3637A>T (p.Asn1213Tyr)
c.3781A>T (p.Asn1261Tyr)
c.3556A>T (p.Asn1186Tyr)
n.109A>T
c.186-315A>T
19g.7560700A>CCA403137616PNPLA6c.3752A>C (p.Asn1251Thr)
c.3638A>C (p.Asn1213Thr)
c.3782A>C (p.Asn1261Thr)
c.3557A>C (p.Asn1186Thr)
n.110A>C
c.186-314A>C
19g.7560700A>GCA403137617PNPLA6c.3752A>G (p.Asn1251Ser)
c.3638A>G (p.Asn1213Ser)
c.3782A>G (p.Asn1261Ser)
c.3557A>G (p.Asn1186Ser)
n.110A>G
c.186-314A>G
19g.7560700A>TCA403137620PNPLA6c.3752A>T (p.Asn1251Ile)
c.3638A>T (p.Asn1213Ile)
c.3782A>T (p.Asn1261Ile)
c.3557A>T (p.Asn1186Ile)
n.110A>T
c.186-314A>T
19g.7560701C>ACA403137623PNPLA6c.3753C>A (p.Asn1251Lys)
c.3639C>A (p.Asn1213Lys)
c.3783C>A (p.Asn1261Lys)
c.3558C>A (p.Asn1186Lys)
n.111C>A
c.186-313C>A
19g.7560701C=CA2320979336PNPLA6c.3753C= (p.Asn1251=)
c.3639C= (p.Asn1213=)
c.3783C= (p.Asn1261=)
c.3558C= (p.Asn1186=)
n.111C=
c.186-313C=
19g.7560701C>GCA403137626PNPLA6c.3753C>G (p.Asn1251Lys)
c.3639C>G (p.Asn1213Lys)
c.3783C>G (p.Asn1261Lys)
c.3558C>G (p.Asn1186Lys)
n.111C>G
c.186-313C>G
19g.7560701C>TCA9140570PNPLA6c.3753C>T (p.Asn1251=)
c.3639C>T (p.Asn1213=)
c.3783C>T (p.Asn1261=)
c.3558C>T (p.Asn1186=)
n.111C>T
c.186-313C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560702G>ACA9140571PNPLA6c.3754G>A (p.Val1252Ile)
c.3640G>A (p.Val1214Ile)
c.3784G>A (p.Val1262Ile)
c.3559G>A (p.Val1187Ile)
n.112G>A
c.186-312G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7560702G>CCA403137632PNPLA6c.3754G>C (p.Val1252Leu)
c.3640G>C (p.Val1214Leu)
c.3784G>C (p.Val1262Leu)
c.3559G>C (p.Val1187Leu)
n.112G>C
c.186-312G>C
19g.7560702G=CA2320979337PNPLA6c.3754G= (p.Val1252=)
c.3640G= (p.Val1214=)
c.3784G= (p.Val1262=)
c.3559G= (p.Val1187=)
n.112G=
c.186-312G=
19g.7560702G>TCA403137635PNPLA6c.3754G>T (p.Val1252Phe)
c.3640G>T (p.Val1214Phe)
c.3784G>T (p.Val1262Phe)
c.3559G>T (p.Val1187Phe)
n.112G>T
c.186-312G>T
19g.7560703T>ACA403137638PNPLA6c.3755T>A (p.Val1252Asp)
c.3641T>A (p.Val1214Asp)
c.3785T>A (p.Val1262Asp)
c.3560T>A (p.Val1187Asp)
n.113T>A
c.186-311T>A
19g.7560703T>CCA403137639PNPLA6c.3755T>C (p.Val1252Ala)
c.3641T>C (p.Val1214Ala)
c.3785T>C (p.Val1262Ala)
c.3560T>C (p.Val1187Ala)
n.113T>C
c.186-311T>C
19g.7560703T>GCA403137641PNPLA6c.3755T>G (p.Val1252Gly)
c.3641T>G (p.Val1214Gly)
c.3785T>G (p.Val1262Gly)
c.3560T>G (p.Val1187Gly)
n.113T>G
c.186-311T>G
19g.7560704C>ACA505245171PNPLA6c.3756C>A (p.Val1252=)
c.3642C>A (p.Val1214=)
c.3786C>A (p.Val1262=)
c.3561C>A (p.Val1187=)
n.114C>A
c.186-310C>A
19g.7560704C>GCA505245169PNPLA6c.3756C>G (p.Val1252=)
c.3642C>G (p.Val1214=)
c.3786C>G (p.Val1262=)
c.3561C>G (p.Val1187=)
n.114C>G
c.186-310C>G
19g.7560704C>TCA505245167PNPLA6c.3756C>T (p.Val1252=)
c.3642C>T (p.Val1214=)
c.3786C>T (p.Val1262=)
c.3561C>T (p.Val1187=)
n.114C>T
c.186-310C>T
 gnomAD v4
19g.7560705A>CCA403137650PNPLA6c.3757A>C (p.Ile1253Leu)
c.3643A>C (p.Ile1215Leu)
c.3787A>C (p.Ile1263Leu)
c.3562A>C (p.Ile1188Leu)
n.115A>C
c.186-309A>C
19g.7560705A>GCA403137647PNPLA6c.3757A>G (p.Ile1253Val)
c.3643A>G (p.Ile1215Val)
c.3787A>G (p.Ile1263Val)
c.3562A>G (p.Ile1188Val)
n.115A>G
c.186-309A>G
19g.7560705A>TCA403137644PNPLA6c.3757A>T (p.Ile1253Phe)
c.3643A>T (p.Ile1215Phe)
c.3787A>T (p.Ile1263Phe)
c.3562A>T (p.Ile1188Phe)
n.115A>T
c.186-309A>T
19g.7560706T>ACA403137653PNPLA6c.3758T>A (p.Ile1253Asn)
c.3644T>A (p.Ile1215Asn)
c.3788T>A (p.Ile1263Asn)
c.3563T>A (p.Ile1188Asn)
n.116T>A
c.186-308T>A
19g.7560706T>CCA403137655PNPLA6c.3758T>C (p.Ile1253Thr)
c.3644T>C (p.Ile1215Thr)
c.3788T>C (p.Ile1263Thr)
c.3563T>C (p.Ile1188Thr)
n.116T>C
c.186-308T>C
19g.7560706T>GCA403137658PNPLA6c.3758T>G (p.Ile1253Ser)
c.3644T>G (p.Ile1215Ser)
c.3788T>G (p.Ile1263Ser)
c.3563T>G (p.Ile1188Ser)
n.116T>G
c.186-308T>G
19g.7560707T>ACA505245180PNPLA6c.3759T>A (p.Ile1253=)
c.3645T>A (p.Ile1215=)
c.3789T>A (p.Ile1263=)
c.3564T>A (p.Ile1188=)
n.117T>A
c.186-307T>A
19g.7560707T>CCA505245182PNPLA6c.3759T>C (p.Ile1253=)
c.3645T>C (p.Ile1215=)
c.3789T>C (p.Ile1263=)
c.3564T>C (p.Ile1188=)
n.117T>C
c.186-307T>C
19g.7560707T>GCA403137660PNPLA6c.3759T>G (p.Ile1253Met)
c.3645T>G (p.Ile1215Met)
c.3789T>G (p.Ile1263Met)
c.3564T>G (p.Ile1188Met)
n.117T>G
c.186-307T>G
 gnomAD v4
19g.7560708G>ACA403137663PNPLA6c.3760G>A (p.Glu1254Lys)
c.3646G>A (p.Glu1216Lys)
c.3790G>A (p.Glu1264Lys)
c.3565G>A (p.Glu1189Lys)
n.118G>A
c.186-306G>A
19g.7560708G>CCA403137666PNPLA6c.3760G>C (p.Glu1254Gln)
c.3646G>C (p.Glu1216Gln)
c.3790G>C (p.Glu1264Gln)
c.3565G>C (p.Glu1189Gln)
n.118G>C
c.186-306G>C
19g.7560708G>TCA403137668PNPLA6c.3760G>T (p.Glu1254Ter)
c.3646G>T (p.Glu1216Ter)
c.3790G>T (p.Glu1264Ter)
c.3565G>T (p.Glu1189Ter)
n.118G>T
c.186-306G>T
19g.7560709A>CCA403137672PNPLA6c.3761A>C (p.Glu1254Ala)
c.3647A>C (p.Glu1216Ala)
c.3791A>C (p.Glu1264Ala)
c.3566A>C (p.Glu1189Ala)
n.119A>C
c.186-305A>C
19g.7560709A>GCA403137675PNPLA6c.3761A>G (p.Glu1254Gly)
c.3647A>G (p.Glu1216Gly)
c.3791A>G (p.Glu1264Gly)
c.3566A>G (p.Glu1189Gly)
n.119A>G
c.186-305A>G
19g.7560709A>TCA403137678PNPLA6c.3761A>T (p.Glu1254Val)
c.3647A>T (p.Glu1216Val)
c.3791A>T (p.Glu1264Val)
c.3566A>T (p.Glu1189Val)
n.119A>T
c.186-305A>T
19g.7560710G>ACA505245191PNPLA6c.3762G>A (p.Glu1254=)
c.3648G>A (p.Glu1216=)
c.3792G>A (p.Glu1264=)
c.3567G>A (p.Glu1189=)
n.120G>A
c.186-304G>A
19g.7560710G>CCA403137682PNPLA6c.3762G>C (p.Glu1254Asp)
c.3648G>C (p.Glu1216Asp)
c.3792G>C (p.Glu1264Asp)
c.3567G>C (p.Glu1189Asp)
n.120G>C
c.186-304G>C
19g.7560710G>TCA403137685PNPLA6c.3762G>T (p.Glu1254Asp)
c.3648G>T (p.Glu1216Asp)
c.3792G>T (p.Glu1264Asp)
c.3567G>T (p.Glu1189Asp)
n.120G>T
c.186-304G>T
19g.7560711A>CCA403137692PNPLA6c.3763A>C (p.Lys1255Gln)
c.3649A>C (p.Lys1217Gln)
c.3793A>C (p.Lys1265Gln)
c.3568A>C (p.Lys1190Gln)
n.121A>C
c.186-303A>C
19g.7560711A>GCA403137690PNPLA6c.3763A>G (p.Lys1255Glu)
c.3649A>G (p.Lys1217Glu)
c.3793A>G (p.Lys1265Glu)
c.3568A>G (p.Lys1190Glu)
n.121A>G
c.186-303A>G
19g.7560711A>TCA403137688PNPLA6c.3763A>T (p.Lys1255Ter)
c.3649A>T (p.Lys1217Ter)
c.3793A>T (p.Lys1265Ter)
c.3568A>T (p.Lys1190Ter)
n.121A>T
c.186-303A>T
19g.7560712A>CCA403137694PNPLA6c.3764A>C (p.Lys1255Thr)
c.3650A>C (p.Lys1217Thr)
c.3794A>C (p.Lys1265Thr)
c.3569A>C (p.Lys1190Thr)
n.122A>C
c.186-302A>C
19g.7560712A>GCA403137698PNPLA6c.3764A>G (p.Lys1255Arg)
c.3650A>G (p.Lys1217Arg)
c.3794A>G (p.Lys1265Arg)
c.3569A>G (p.Lys1190Arg)
n.122A>G
c.186-302A>G
19g.7560712A>TCA403137695PNPLA6c.3764A>T (p.Lys1255Ile)
c.3650A>T (p.Lys1217Ile)
c.3794A>T (p.Lys1265Ile)
c.3569A>T (p.Lys1190Ile)
n.122A>T
c.186-302A>T
19g.7560713A=CA2320979338PNPLA6c.3765A= (p.Lys1255=)
c.3651A= (p.Lys1217=)
c.3795A= (p.Lys1265=)
c.3570A= (p.Lys1190=)
n.123A=
c.186-301A=
19g.7560713A>CCA403137701PNPLA6c.3765A>C (p.Lys1255Asn)
c.3651A>C (p.Lys1217Asn)
c.3795A>C (p.Lys1265Asn)
c.3570A>C (p.Lys1190Asn)
n.123A>C
c.186-301A>C
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7560713A>GCA505245203PNPLA6c.3765A>G (p.Lys1255=)
c.3651A>G (p.Lys1217=)
c.3795A>G (p.Lys1265=)
c.3570A>G (p.Lys1190=)
n.123A>G
c.186-301A>G
19g.7560713A>TCA403137702PNPLA6c.3765A>T (p.Lys1255Asn)
c.3651A>T (p.Lys1217Asn)
c.3795A>T (p.Lys1265Asn)
c.3570A>T (p.Lys1190Asn)
n.123A>T
c.186-301A>T
19g.7560714A>CCA403137706PNPLA6c.3766A>C (p.Met1256Leu)
c.3652A>C (p.Met1218Leu)
c.3796A>C (p.Met1266Leu)
c.3571A>C (p.Met1191Leu)
n.124A>C
c.186-300A>C
19g.7560714A>GCA403137708PNPLA6c.3766A>G (p.Met1256Val)
c.3652A>G (p.Met1218Val)
c.3796A>G (p.Met1266Val)
c.3571A>G (p.Met1191Val)
n.124A>G
c.186-300A>G
 gnomAD v4
19g.7560714A>TCA403137710PNPLA6c.3766A>T (p.Met1256Leu)
c.3652A>T (p.Met1218Leu)
c.3796A>T (p.Met1266Leu)
c.3571A>T (p.Met1191Leu)
n.124A>T
c.186-300A>T
19g.7560715T>ACA403137718PNPLA6c.3767T>A (p.Met1256Lys)
c.3653T>A (p.Met1218Lys)
c.3797T>A (p.Met1266Lys)
c.3572T>A (p.Met1191Lys)
n.125T>A
c.186-299T>A
19g.7560715T>CCA403137715PNPLA6c.3767T>C (p.Met1256Thr)
c.3653T>C (p.Met1218Thr)
c.3797T>C (p.Met1266Thr)
c.3572T>C (p.Met1191Thr)
n.125T>C
c.186-299T>C
19g.7560715T>GCA403137712PNPLA6c.3767T>G (p.Met1256Arg)
c.3653T>G (p.Met1218Arg)
c.3797T>G (p.Met1266Arg)
c.3572T>G (p.Met1191Arg)
n.125T>G
c.186-299T>G
19g.7560716G>ACA403137720PNPLA6c.3768G>A (p.Met1256Ile)
c.3654G>A (p.Met1218Ile)
c.3798G>A (p.Met1266Ile)
c.3573G>A (p.Met1191Ile)
n.126G>A
c.186-298G>A
19g.7560716G>CCA403137723PNPLA6c.3768G>C (p.Met1256Ile)
c.3654G>C (p.Met1218Ile)
c.3798G>C (p.Met1266Ile)
c.3573G>C (p.Met1191Ile)
n.126G>C
c.186-298G>C
 ClinVar dbSNP gnomAD v4
19g.7560716G=CA2320979339PNPLA6c.3768G= (p.Met1256=)
c.3654G= (p.Met1218=)
c.3798G= (p.Met1266=)
c.3573G= (p.Met1191=)
n.126G=
c.186-298G=
19g.7560716G>TCA10583869PNPLA6c.3768G>T (p.Met1256Ile)
c.3654G>T (p.Met1218Ile)
c.3798G>T (p.Met1266Ile)
c.3573G>T (p.Met1191Ile)
n.126G>T
c.186-298G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7560717C>ACA403137726PNPLA6c.3769C>A (p.Leu1257Ile)
c.3655C>A (p.Leu1219Ile)
c.3799C>A (p.Leu1267Ile)
c.3574C>A (p.Leu1192Ile)
n.127C>A
c.186-297C>A
19g.7560717C>GCA403137729PNPLA6c.3769C>G (p.Leu1257Val)
c.3655C>G (p.Leu1219Val)
c.3799C>G (p.Leu1267Val)
c.3574C>G (p.Leu1192Val)
n.127C>G
c.186-297C>G
19g.7560717C>TCA403137732PNPLA6c.3769C>T (p.Leu1257Phe)
c.3655C>T (p.Leu1219Phe)
c.3799C>T (p.Leu1267Phe)
c.3574C>T (p.Leu1192Phe)
n.127C>T
c.186-297C>T
19g.7560718T>ACA403137739PNPLA6c.3770T>A (p.Leu1257His)
c.3656T>A (p.Leu1219His)
c.3800T>A (p.Leu1267His)
c.3575T>A (p.Leu1192His)
n.128T>A
c.186-296T>A
19g.7560718T>CCA403137734PNPLA6c.3770T>C (p.Leu1257Pro)
c.3656T>C (p.Leu1219Pro)
c.3800T>C (p.Leu1267Pro)
c.3575T>C (p.Leu1192Pro)
n.128T>C
c.186-296T>C
19g.7560718T>GCA403137736PNPLA6c.3770T>G (p.Leu1257Arg)
c.3656T>G (p.Leu1219Arg)
c.3800T>G (p.Leu1267Arg)
c.3575T>G (p.Leu1192Arg)
n.128T>G
c.186-296T>G
19g.7560719C>ACA505245225PNPLA6c.3771C>A (p.Leu1257=)
c.3657C>A (p.Leu1219=)
c.3801C>A (p.Leu1267=)
c.3576C>A (p.Leu1192=)
n.129C>A
c.186-295C>A
19g.7560719C=CA2320979340PNPLA6c.3771C= (p.Leu1257=)
c.3657C= (p.Leu1219=)
c.3801C= (p.Leu1267=)
c.3576C= (p.Leu1192=)
n.129C=
c.186-295C=
19g.7560719C>GCA505245224PNPLA6c.3771C>G (p.Leu1257=)
c.3657C>G (p.Leu1219=)
c.3801C>G (p.Leu1267=)
c.3576C>G (p.Leu1192=)
n.129C>G
c.186-295C>G
19g.7560719C>TCA505245222PNPLA6c.3771C>T (p.Leu1257=)
c.3657C>T (p.Leu1219=)
c.3801C>T (p.Leu1267=)
c.3576C>T (p.Leu1192=)
n.129C>T
c.186-295C>T
 dbSNP gnomAD v2 gnomAD v4
19g.7560720A>CCA403137742PNPLA6c.3772A>C (p.Thr1258Pro)
c.3658A>C (p.Thr1220Pro)
c.3802A>C (p.Thr1268Pro)
c.3577A>C (p.Thr1193Pro)
n.130A>C
c.186-294A>C
19g.7560720A>GCA403137744PNPLA6c.3772A>G (p.Thr1258Ala)
c.3658A>G (p.Thr1220Ala)
c.3802A>G (p.Thr1268Ala)
c.3577A>G (p.Thr1193Ala)
n.130A>G
c.186-294A>G
19g.7560720A>TCA403137747PNPLA6c.3772A>T (p.Thr1258Ser)
c.3658A>T (p.Thr1220Ser)
c.3802A>T (p.Thr1268Ser)
c.3577A>T (p.Thr1193Ser)
n.130A>T
c.186-294A>T
19g.7560721C>ACA403137749PNPLA6c.3773C>A (p.Thr1258Lys)
c.3659C>A (p.Thr1220Lys)
c.3803C>A (p.Thr1268Lys)
c.3578C>A (p.Thr1193Lys)
n.131C>A
c.186-293C>A
19g.7560721C=CA2320979341PNPLA6c.3773C= (p.Thr1258=)
c.3659C= (p.Thr1220=)
c.3803C= (p.Thr1268=)
c.3578C= (p.Thr1193=)
n.131C=
c.186-293C=
19g.7560721C>GCA403137752PNPLA6c.3773C>G (p.Thr1258Arg)
c.3659C>G (p.Thr1220Arg)
c.3803C>G (p.Thr1268Arg)
c.3578C>G (p.Thr1193Arg)
n.131C>G
c.186-293C>G
19g.7560721C>TCA9140572PNPLA6c.3773C>T (p.Thr1258Ile)
c.3659C>T (p.Thr1220Ile)
c.3803C>T (p.Thr1268Ile)
c.3578C>T (p.Thr1193Ile)
n.131C>T
c.186-293C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560722A>CCA505245235PNPLA6c.3774A>C (p.Thr1258=)
c.3660A>C (p.Thr1220=)
c.3804A>C (p.Thr1268=)
c.3579A>C (p.Thr1193=)
n.132A>C
c.186-292A>C
19g.7560722A>GCA505245236PNPLA6c.3774A>G (p.Thr1258=)
c.3660A>G (p.Thr1220=)
c.3804A>G (p.Thr1268=)
c.3579A>G (p.Thr1193=)
n.132A>G
c.186-292A>G
19g.7560722A>TCA505245238PNPLA6c.3774A>T (p.Thr1258=)
c.3660A>T (p.Thr1220=)
c.3804A>T (p.Thr1268=)
c.3579A>T (p.Thr1193=)
n.132A>T
c.186-292A>T
19g.7560723G>ACA403137757PNPLA6c.3775G>A (p.Asp1259Asn)
c.3661G>A (p.Asp1221Asn)
c.3805G>A (p.Asp1269Asn)
c.3580G>A (p.Asp1194Asn)
n.133G>A
c.186-291G>A
 gnomAD v4
19g.7560723G>CCA403137759PNPLA6c.3775G>C (p.Asp1259His)
c.3661G>C (p.Asp1221His)
c.3805G>C (p.Asp1269His)
c.3580G>C (p.Asp1194His)
n.133G>C
c.186-291G>C
19g.7560723G>TCA403137764PNPLA6c.3775G>T (p.Asp1259Tyr)
c.3661G>T (p.Asp1221Tyr)
c.3805G>T (p.Asp1269Tyr)
c.3580G>T (p.Asp1194Tyr)
n.133G>T
c.186-291G>T
 gnomAD v4
19g.7560724A=CA2320979342PNPLA6c.3776A= (p.Asp1259=)
c.3662A= (p.Asp1221=)
c.3806A= (p.Asp1269=)
c.3581A= (p.Asp1194=)
n.134A=
c.186-290A=
19g.7560724A>CCA403137769PNPLA6c.3776A>C (p.Asp1259Ala)
c.3662A>C (p.Asp1221Ala)
c.3806A>C (p.Asp1269Ala)
c.3581A>C (p.Asp1194Ala)
n.134A>C
c.186-290A>C
 dbSNP
19g.7560724A>GCA403137771PNPLA6c.3776A>G (p.Asp1259Gly)
c.3662A>G (p.Asp1221Gly)
c.3806A>G (p.Asp1269Gly)
c.3581A>G (p.Asp1194Gly)
n.134A>G
c.186-290A>G
19g.7560724A>TCA403137772PNPLA6c.3776A>T (p.Asp1259Val)
c.3662A>T (p.Asp1221Val)
c.3806A>T (p.Asp1269Val)
c.3581A>T (p.Asp1194Val)
n.134A>T
c.186-290A>T
19g.7560725C>ACA403137773PNPLA6c.3777C>A (p.Asp1259Glu)
c.3663C>A (p.Asp1221Glu)
c.3807C>A (p.Asp1269Glu)
c.3582C>A (p.Asp1194Glu)
n.135C>A
c.186-289C>A
19g.7560725C=CA2320979343PNPLA6c.3777C= (p.Asp1259=)
c.3663C= (p.Asp1221=)
c.3807C= (p.Asp1269=)
c.3582C= (p.Asp1194=)
n.135C=
c.186-289C=
19g.7560725C>GCA403137774PNPLA6c.3777C>G (p.Asp1259Glu)
c.3663C>G (p.Asp1221Glu)
c.3807C>G (p.Asp1269Glu)
c.3582C>G (p.Asp1194Glu)
n.135C>G
c.186-289C>G
19g.7560725C>TCA9140573PNPLA6c.3777C>T (p.Asp1259=)
c.3663C>T (p.Asp1221=)
c.3807C>T (p.Asp1269=)
c.3582C>T (p.Asp1194=)
n.135C>T
c.186-289C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560726C>ACA505245252PNPLA6c.3778C>A (p.Arg1260=)
c.3664C>A (p.Arg1222=)
c.3808C>A (p.Arg1270=)
c.3583C>A (p.Arg1195=)
n.136C>A
c.186-288C>A
19g.7560726C=CA2320979344PNPLA6c.3778C= (p.Arg1260=)
c.3664C= (p.Arg1222=)
c.3808C= (p.Arg1270=)
c.3583C= (p.Arg1195=)
n.136C=
c.186-288C=
19g.7560726C>GCA403137776PNPLA6c.3778C>G (p.Arg1260Gly)
c.3664C>G (p.Arg1222Gly)
c.3808C>G (p.Arg1270Gly)
c.3583C>G (p.Arg1195Gly)
n.136C>G
c.186-288C>G
19g.7560726C>TCA9140574PNPLA6c.3778C>T (p.Arg1260Trp)
c.3664C>T (p.Arg1222Trp)
c.3808C>T (p.Arg1270Trp)
c.3583C>T (p.Arg1195Trp)
n.136C>T
c.186-288C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7560727G>ACA9140575PNPLA6c.3779G>A (p.Arg1260Gln)
c.3665G>A (p.Arg1222Gln)
c.3809G>A (p.Arg1270Gln)
c.3584G>A (p.Arg1195Gln)
n.137G>A
c.186-287G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560727G>CCA403137779PNPLA6c.3779G>C (p.Arg1260Pro)
c.3665G>C (p.Arg1222Pro)
c.3809G>C (p.Arg1270Pro)
c.3584G>C (p.Arg1195Pro)
n.137G>C
c.186-287G>C
 gnomAD v4
19g.7560727G=CA2320979345PNPLA6c.3779G= (p.Arg1260=)
c.3665G= (p.Arg1222=)
c.3809G= (p.Arg1270=)
c.3584G= (p.Arg1195=)
n.137G=
c.186-287G=
19g.7560727G>TCA403137782PNPLA6c.3779G>T (p.Arg1260Leu)
c.3665G>T (p.Arg1222Leu)
c.3809G>T (p.Arg1270Leu)
c.3584G>T (p.Arg1195Leu)
n.137G>T
c.186-287G>T
19g.7560728G>ACA505245261PNPLA6c.3780G>A (p.Arg1260=)
c.3666G>A (p.Arg1222=)
c.3810G>A (p.Arg1270=)
c.3585G>A (p.Arg1195=)
n.138G>A
c.186-286G>A
19g.7560728G>CCA505245263PNPLA6c.3780G>C (p.Arg1260=)
c.3666G>C (p.Arg1222=)
c.3810G>C (p.Arg1270=)
c.3585G>C (p.Arg1195=)
n.138G>C
c.186-286G>C
19g.7560728G>TCA505245264PNPLA6c.3780G>T (p.Arg1260=)
c.3666G>T (p.Arg1222=)
c.3810G>T (p.Arg1270=)
c.3585G>T (p.Arg1195=)
n.138G>T
c.186-286G>T
19g.7560729C>ACA505245268PNPLA6c.3781C>A (p.Arg1261=)
c.3667C>A (p.Arg1223=)
c.3811C>A (p.Arg1271=)
c.3586C>A (p.Arg1196=)
n.139C>A
c.186-285C>A
19g.7560729C=CA2320979346PNPLA6c.3781C= (p.Arg1261=)
c.3667C= (p.Arg1223=)
c.3811C= (p.Arg1271=)
c.3586C= (p.Arg1196=)
n.139C=
c.186-285C=
19g.7560729C>GCA403137786PNPLA6c.3781C>G (p.Arg1261Gly)
c.3667C>G (p.Arg1223Gly)
c.3811C>G (p.Arg1271Gly)
c.3586C>G (p.Arg1196Gly)
n.139C>G
c.186-285C>G
19g.7560729C>TCA9140576PNPLA6c.3781C>T (p.Arg1261Trp)
c.3667C>T (p.Arg1223Trp)
c.3811C>T (p.Arg1271Trp)
c.3586C>T (p.Arg1196Trp)
n.139C>T
c.186-285C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560730G>ACA403137792PNPLA6c.3782G>A (p.Arg1261Gln)
c.3668G>A (p.Arg1223Gln)
c.3812G>A (p.Arg1271Gln)
c.3587G>A (p.Arg1196Gln)
n.140G>A
c.186-284G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.7560730G>CCA403137794PNPLA6c.3782G>C (p.Arg1261Pro)
c.3668G>C (p.Arg1223Pro)
c.3812G>C (p.Arg1271Pro)
c.3587G>C (p.Arg1196Pro)
n.140G>C
c.186-284G>C
19g.7560730G=CA2320979347PNPLA6c.3782G= (p.Arg1261=)
c.3668G= (p.Arg1223=)
c.3812G= (p.Arg1271=)
c.3587G= (p.Arg1196=)
n.140G=
c.186-284G=
19g.7560730G>TCA403137798PNPLA6c.3782G>T (p.Arg1261Leu)
c.3668G>T (p.Arg1223Leu)
c.3812G>T (p.Arg1271Leu)
c.3587G>T (p.Arg1196Leu)
n.140G>T
c.186-284G>T
19g.7560731G>ACA505245275PNPLA6c.3783G>A (p.Arg1261=)
c.3669G>A (p.Arg1223=)
c.3813G>A (p.Arg1271=)
c.3588G>A (p.Arg1196=)
n.141G>A
c.186-283G>A
 dbSNP
19g.7560731G>CCA505245276PNPLA6c.3783G>C (p.Arg1261=)
c.3669G>C (p.Arg1223=)
c.3813G>C (p.Arg1271=)
c.3588G>C (p.Arg1196=)
n.141G>C
c.186-283G>C
19g.7560731G=CA2320979348PNPLA6c.3783G= (p.Arg1261=)
c.3669G= (p.Arg1223=)
c.3813G= (p.Arg1271=)
c.3588G= (p.Arg1196=)
n.141G=
c.186-283G=
19g.7560731G>TCA505245277PNPLA6c.3783G>T (p.Arg1261=)
c.3669G>T (p.Arg1223=)
c.3813G>T (p.Arg1271=)
c.3588G>T (p.Arg1196=)
n.141G>T
c.186-283G>T
 gnomAD v4
19g.7560732T>ACA403137801PNPLA6c.3784T>A (p.Ser1262Thr)
c.3670T>A (p.Ser1224Thr)
c.3814T>A (p.Ser1272Thr)
c.3589T>A (p.Ser1197Thr)
n.142T>A
c.186-282T>A
19g.7560732T>CCA403137803PNPLA6c.3784T>C (p.Ser1262Pro)
c.3670T>C (p.Ser1224Pro)
c.3814T>C (p.Ser1272Pro)
c.3589T>C (p.Ser1197Pro)
n.142T>C
c.186-282T>C
19g.7560732T>GCA403137806PNPLA6c.3784T>G (p.Ser1262Ala)
c.3670T>G (p.Ser1224Ala)
c.3814T>G (p.Ser1272Ala)
c.3589T>G (p.Ser1197Ala)
n.142T>G
c.186-282T>G
 dbSNP
19g.7560732T=CA2320979349PNPLA6c.3784T= (p.Ser1262=)
c.3670T= (p.Ser1224=)
c.3814T= (p.Ser1272=)
c.3589T= (p.Ser1197=)
n.142T=
c.186-282T=
19g.7560733C>ACA403137812PNPLA6c.3785C>A (p.Ser1262Tyr)
c.3671C>A (p.Ser1224Tyr)
c.3815C>A (p.Ser1272Tyr)
c.3590C>A (p.Ser1197Tyr)
n.143C>A
c.186-281C>A
19g.7560733C>GCA403137815PNPLA6c.3785C>G (p.Ser1262Cys)
c.3671C>G (p.Ser1224Cys)
c.3815C>G (p.Ser1272Cys)
c.3590C>G (p.Ser1197Cys)
n.143C>G
c.186-281C>G
19g.7560733C>TCA403137814PNPLA6c.3785C>T (p.Ser1262Phe)
c.3671C>T (p.Ser1224Phe)
c.3815C>T (p.Ser1272Phe)
c.3590C>T (p.Ser1197Phe)
n.143C>T
c.186-281C>T
19g.7560734T>ACA505245286PNPLA6c.3786T>A (p.Ser1262=)
c.3672T>A (p.Ser1224=)
c.3816T>A (p.Ser1272=)
c.3591T>A (p.Ser1197=)
n.144T>A
c.186-280T>A
19g.7560734T>CCA9140577PNPLA6c.3786T>C (p.Ser1262=)
c.3672T>C (p.Ser1224=)
c.3816T>C (p.Ser1272=)
c.3591T>C (p.Ser1197=)
n.144T>C
c.186-280T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560734T>GCA505245289PNPLA6c.3786T>G (p.Ser1262=)
c.3672T>G (p.Ser1224=)
c.3816T>G (p.Ser1272=)
c.3591T>G (p.Ser1197=)
n.144T>G
c.186-280T>G
19g.7560734T=CA2320979350PNPLA6c.3786T= (p.Ser1262=)
c.3672T= (p.Ser1224=)
c.3816T= (p.Ser1272=)
c.3591T= (p.Ser1197=)
n.144T=
c.186-280T=
19g.7560735A=CA2320979351PNPLA6c.3787A= (p.Thr1263=)
c.3673A= (p.Thr1225=)
c.3817A= (p.Thr1273=)
c.3592A= (p.Thr1198=)
n.145A=
c.186-279A=
19g.7560735A>CCA403137833PNPLA6c.3787A>C (p.Thr1263Pro)
c.3673A>C (p.Thr1225Pro)
c.3817A>C (p.Thr1273Pro)
c.3592A>C (p.Thr1198Pro)
n.145A>C
c.186-279A>C
19g.7560735A>GCA403137834PNPLA6c.3787A>G (p.Thr1263Ala)
c.3673A>G (p.Thr1225Ala)
c.3817A>G (p.Thr1273Ala)
c.3592A>G (p.Thr1198Ala)
n.145A>G
c.186-279A>G
 dbSNP gnomAD v3 gnomAD v4
19g.7560735A>TCA403137838PNPLA6c.3787A>T (p.Thr1263Ser)
c.3673A>T (p.Thr1225Ser)
c.3817A>T (p.Thr1273Ser)
c.3592A>T (p.Thr1198Ser)
n.145A>T
c.186-279A>T
19g.7560736C>ACA403137840PNPLA6c.3788C>A (p.Thr1263Lys)
c.3674C>A (p.Thr1225Lys)
c.3818C>A (p.Thr1273Lys)
c.3593C>A (p.Thr1198Lys)
n.146C>A
c.186-278C>A
19g.7560736C>GCA403137843PNPLA6c.3788C>G (p.Thr1263Arg)
c.3674C>G (p.Thr1225Arg)
c.3818C>G (p.Thr1273Arg)
c.3593C>G (p.Thr1198Arg)
n.146C>G
c.186-278C>G
19g.7560736C>TCA403137845PNPLA6c.3788C>T (p.Thr1263Ile)
c.3674C>T (p.Thr1225Ile)
c.3818C>T (p.Thr1273Ile)
c.3593C>T (p.Thr1198Ile)
n.146C>T
c.186-278C>T
 gnomAD v4
19g.7560737A>CCA505245298PNPLA6c.3789A>C (p.Thr1263=)
c.3675A>C (p.Thr1225=)
c.3819A>C (p.Thr1273=)
c.3594A>C (p.Thr1198=)
n.147A>C
c.186-277A>C
19g.7560737A>GCA505245299PNPLA6c.3789A>G (p.Thr1263=)
c.3675A>G (p.Thr1225=)
c.3819A>G (p.Thr1273=)
c.3594A>G (p.Thr1198=)
n.147A>G
c.186-277A>G
19g.7560737A>TCA505245301PNPLA6c.3789A>T (p.Thr1263=)
c.3675A>T (p.Thr1225=)
c.3819A>T (p.Thr1273=)
c.3594A>T (p.Thr1198=)
n.147A>T
c.186-277A>T
19g.7560738G>ACA403137846PNPLA6c.3790G>A (p.Asp1264Asn)
c.3676G>A (p.Asp1226Asn)
c.3820G>A (p.Asp1274Asn)
c.3595G>A (p.Asp1199Asn)
n.148G>A
c.186-276G>A
19g.7560738G>CCA403137847PNPLA6c.3790G>C (p.Asp1264His)
c.3676G>C (p.Asp1226His)
c.3820G>C (p.Asp1274His)
c.3595G>C (p.Asp1199His)
n.148G>C
c.186-276G>C
 gnomAD v4
19g.7560738G>TCA403137848PNPLA6c.3790G>T (p.Asp1264Tyr)
c.3676G>T (p.Asp1226Tyr)
c.3820G>T (p.Asp1274Tyr)
c.3595G>T (p.Asp1199Tyr)
n.148G>T
c.186-276G>T
19g.7560739A=CA2320979352PNPLA6c.3791A= (p.Asp1264=)
c.3677A= (p.Asp1226=)
c.3821A= (p.Asp1274=)
c.3596A= (p.Asp1199=)
n.149A=
c.186-275A=
19g.7560739A>CCA403137853PNPLA6c.3791A>C (p.Asp1264Ala)
c.3677A>C (p.Asp1226Ala)
c.3821A>C (p.Asp1274Ala)
c.3596A>C (p.Asp1199Ala)
n.149A>C
c.186-275A>C
 dbSNP
19g.7560739A>GCA403137851PNPLA6c.3791A>G (p.Asp1264Gly)
c.3677A>G (p.Asp1226Gly)
c.3821A>G (p.Asp1274Gly)
c.3596A>G (p.Asp1199Gly)
n.149A>G
c.186-275A>G
19g.7560739A>TCA403137849PNPLA6c.3791A>T (p.Asp1264Val)
c.3677A>T (p.Asp1226Val)
c.3821A>T (p.Asp1274Val)
c.3596A>T (p.Asp1199Val)
n.149A>T
c.186-275A>T
19g.7560740C>ACA403137856PNPLA6c.3792C>A (p.Asp1264Glu)
c.3678C>A (p.Asp1226Glu)
c.3822C>A (p.Asp1274Glu)
c.3597C>A (p.Asp1199Glu)
n.150C>A
c.186-274C>A
19g.7560740C=CA2320979353PNPLA6c.3792C= (p.Asp1264=)
c.3678C= (p.Asp1226=)
c.3822C= (p.Asp1274=)
c.3597C= (p.Asp1199=)
n.150C=
c.186-274C=
19g.7560740C>GCA403137859PNPLA6c.3792C>G (p.Asp1264Glu)
c.3678C>G (p.Asp1226Glu)
c.3822C>G (p.Asp1274Glu)
c.3597C>G (p.Asp1199Glu)
n.150C>G
c.186-274C>G
19g.7560740C>TCA505245310PNPLA6c.3792C>T (p.Asp1264=)
c.3678C>T (p.Asp1226=)
c.3822C>T (p.Asp1274=)
c.3597C>T (p.Asp1199=)
n.150C>T
c.186-274C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7560741C>ACA403137862PNPLA6c.3793C>A (p.Leu1265Ile)
c.3679C>A (p.Leu1227Ile)
c.3823C>A (p.Leu1275Ile)
c.3598C>A (p.Leu1200Ile)
n.151C>A
c.186-273C>A
 gnomAD v4
19g.7560741C=CA2320979354PNPLA6c.3793C= (p.Leu1265=)
c.3679C= (p.Leu1227=)
c.3823C= (p.Leu1275=)
c.3598C= (p.Leu1200=)
n.151C=
c.186-273C=
19g.7560741C>GCA403137865PNPLA6c.3793C>G (p.Leu1265Val)
c.3679C>G (p.Leu1227Val)
c.3823C>G (p.Leu1275Val)
c.3598C>G (p.Leu1200Val)
n.151C>G
c.186-273C>G
 dbSNP
19g.7560741C>TCA403137868PNPLA6c.3793C>T (p.Leu1265Phe)
c.3679C>T (p.Leu1227Phe)
c.3823C>T (p.Leu1275Phe)
c.3598C>T (p.Leu1200Phe)
n.151C>T
c.186-273C>T
 gnomAD v4
19g.7560742T>ACA403137871PNPLA6c.3794T>A (p.Leu1265His)
c.3680T>A (p.Leu1227His)
c.3824T>A (p.Leu1275His)
c.3599T>A (p.Leu1200His)
n.152T>A
c.186-272T>A
 gnomAD v4
19g.7560742T>CCA403137874PNPLA6c.3794T>C (p.Leu1265Pro)
c.3680T>C (p.Leu1227Pro)
c.3824T>C (p.Leu1275Pro)
c.3599T>C (p.Leu1200Pro)
n.152T>C
c.186-272T>C
19g.7560742T>GCA403137876PNPLA6c.3794T>G (p.Leu1265Arg)
c.3680T>G (p.Leu1227Arg)
c.3824T>G (p.Leu1275Arg)
c.3599T>G (p.Leu1200Arg)
n.152T>G
c.186-272T>G
19g.7560743T>ACA505245319PNPLA6c.3795T>A (p.Leu1265=)
c.3681T>A (p.Leu1227=)
c.3825T>A (p.Leu1275=)
c.3600T>A (p.Leu1200=)
n.153T>A
c.186-271T>A
19g.7560743T>CCA505245320PNPLA6c.3795T>C (p.Leu1265=)
c.3681T>C (p.Leu1227=)
c.3825T>C (p.Leu1275=)
c.3600T>C (p.Leu1200=)
n.153T>C
c.186-271T>C
19g.7560743T>GCA505245322PNPLA6c.3795T>G (p.Leu1265=)
c.3681T>G (p.Leu1227=)
c.3825T>G (p.Leu1275=)
c.3600T>G (p.Leu1200=)
n.153T>G
c.186-271T>G

Number of alleles fetched