Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched