Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7561056A>C | CA403138501 | PNPLA6 | c.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 | |
19 | g.7561056A>G | CA403138499 | PNPLA6 | c.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 | |
19 | g.7561056A>T | CA403138497 | PNPLA6 | c.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 | |
19 | g.7561057T>A | CA403138504 | PNPLA6 | c.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 | |
19 | g.7561057T>C | CA403138505 | PNPLA6 | c.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 | |
19 | g.7561057T>G | CA403138506 | PNPLA6 | c.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 | |
19 | g.7561058T>A | CA505404324 | PNPLA6 | c.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 | |
19 | g.7561058T>C | CA505404325 | PNPLA6 | c.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 | |
19 | g.7561058T>G | CA403138507 | PNPLA6 | c.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 | |
19 | g.7561059G>A | CA403138509 | PNPLA6 | c.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 |
19 | g.7561059G>C | CA403138511 | PNPLA6 | c.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 | |
19 | g.7561059G= | CA2320979520 | PNPLA6 | c.3862G= (p.Val1288=) c.3748G= (p.Val1250=) c.3892G= (p.Val1298=) c.3667G= (p.Val1223=) n.220G= c.231G= | |
19 | g.7561059G>T | CA9140614 | PNPLA6 | c.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 |
19 | g.7561060T>A | CA403138515 | PNPLA6 | c.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 | |
19 | g.7561060T>C | CA403138517 | PNPLA6 | c.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 | |
19 | g.7561060T>G | CA403138521 | PNPLA6 | c.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 | |
19 | g.7561061G>A | CA505404326 | PNPLA6 | c.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 |
19 | g.7561061G>C | CA505404327 | PNPLA6 | c.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 | |
19 | g.7561061G= | CA2320979521 | PNPLA6 | c.3864G= (p.Val1288=) c.3750G= (p.Val1250=) c.3894G= (p.Val1298=) c.3669G= (p.Val1223=) n.222G= c.233G= | |
19 | g.7561061G>T | CA505404328 | PNPLA6 | c.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 |
19 | g.7561062T>A | CA403138523 | PNPLA6 | c.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 | |
19 | g.7561062T>C | CA403138524 | PNPLA6 | c.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 |
19 | g.7561062T>G | CA403138531 | PNPLA6 | c.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 | |
19 | g.7561063C>A | CA403138538 | PNPLA6 | c.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 | |
19 | g.7561063C= | CA2320979522 | PNPLA6 | c.3866C= (p.Ser1289=) c.3752C= (p.Ser1251=) c.3896C= (p.Ser1299=) c.3671C= (p.Ser1224=) n.224C= c.235C= | |
19 | g.7561063C>G | CA403138536 | PNPLA6 | c.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 | |
19 | g.7561063C>T | CA403138534 | PNPLA6 | c.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 |
19 | g.7561064C>A | CA505404330 | PNPLA6 | c.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 | |
19 | g.7561064C>G | CA505404331 | PNPLA6 | c.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 | |
19 | g.7561064C>T | CA505404329 | PNPLA6 | c.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 | |
19 | g.7561065C>A | CA505404332 | PNPLA6 | c.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 |
19 | g.7561065C= | CA2320979523 | PNPLA6 | c.3868C= (p.Arg1290=) c.3754C= (p.Arg1252=) c.3898C= (p.Arg1300=) c.3673C= (p.Arg1225=) n.226C= c.237C= | |
19 | g.7561065C>G | CA403138542 | PNPLA6 | c.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 | |
19 | g.7561065C>T | CA9140615 | PNPLA6 | c.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 |
19 | g.7561066G>A | CA9140616 | PNPLA6 | c.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 |
19 | g.7561066G>C | CA403138545 | PNPLA6 | c.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 | |
19 | g.7561066G= | CA2320979524 | PNPLA6 | c.3869G= (p.Arg1290=) c.3755G= (p.Arg1252=) c.3899G= (p.Arg1300=) c.3674G= (p.Arg1225=) n.227G= c.238G= | |
19 | g.7561066G>T | CA403138548 | PNPLA6 | c.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 | |
19 | g.7561067G>A | CA505404333 | PNPLA6 | c.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 |
19 | g.7561067G>C | CA505404334 | PNPLA6 | c.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 |
19 | g.7561067G= | CA2320979525 | PNPLA6 | c.3870G= (p.Arg1290=) c.3756G= (p.Arg1252=) c.3900G= (p.Arg1300=) c.3675G= (p.Arg1225=) n.228G= c.239G= | |
19 | g.7561067G>T | CA505404335 | PNPLA6 | c.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 | |
19 | g.7561068A>C | CA403138550 | PNPLA6 | c.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 | |
19 | g.7561068A>G | CA403138551 | PNPLA6 | c.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 | |
19 | g.7561068A>T | CA403138552 | PNPLA6 | c.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 | |
19 | g.7561069T>A | CA403138556 | PNPLA6 | c.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 | |
19 | g.7561069T>C | CA403138561 | PNPLA6 | c.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 | |
19 | g.7561069T>G | CA403138559 | PNPLA6 | c.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 | |
19 | g.7561070T>A | CA505404336 | PNPLA6 | c.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 | |
19 | g.7561070T>C | CA505404337 | PNPLA6 | c.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 |