| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7561046_7561047delinsCT | CA2320979516 | PNPLA6 | c.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 | |
| 19 | g.7561046_7561048delinsCTT | CA2320979517 | PNPLA6 | c.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 | |
| 19 | g.7561047T>A | CA403138423 | PNPLA6 | c.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 | |
| 19 | g.7561047T>C | CA505404318 | PNPLA6 | c.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 | |
| 19 | g.7561047T>G | CA403138427 | PNPLA6 | c.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 | |
| 19 | g.7561047_7561048del | CA16043123 | PNPLA6 | c.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 |
| 19 | g.7561048del | CA9140613 | PNPLA6 | c.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 |
| 19 | g.7561048T>A | CA403138434 | PNPLA6 | c.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 |
| 19 | g.7561048T>C | CA403138436 | PNPLA6 | c.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 | |
| 19 | g.7561048T>G | CA403138441 | PNPLA6 | c.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 | |
| 19 | g.7561048T= | CA2320979518 | PNPLA6 | c.3851T= (p.Leu1284=) c.3737T= (p.Leu1246=) c.3881T= (p.Leu1294=) c.3656T= (p.Leu1219=) n.209T= c.220T= | |
| 19 | g.7561049G>A | CA505404319 | PNPLA6 | c.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 | |
| 19 | g.7561049G>C | CA403138445 | PNPLA6 | c.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 | |
| 19 | g.7561049G>T | CA403138444 | PNPLA6 | c.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 | |
| 19 | g.7561050G>A | CA403138449 | PNPLA6 | c.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 |
| 19 | g.7561050G>C | CA403138456 | PNPLA6 | c.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 | |
| 19 | g.7561050G>T | CA403138454 | PNPLA6 | c.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 | |
| 19 | g.7561051C>A | CA403138458 | PNPLA6 | c.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 | |
| 19 | g.7561051C>G | CA403138463 | PNPLA6 | c.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 | |
| 19 | g.7561051C>T | CA403138466 | PNPLA6 | c.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 |
| 19 | g.7561052A>C | CA505404320 | PNPLA6 | c.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 | |
| 19 | g.7561052A>G | CA505404321 | PNPLA6 | c.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 | |
| 19 | g.7561052A>T | CA505404322 | PNPLA6 | c.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 | |
| 19 | g.7561053G>A | CA403138471 | PNPLA6 | c.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 |
| 19 | g.7561053G>C | CA403138472 | PNPLA6 | c.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 |
| 19 | g.7561053G= | CA2320979519 | PNPLA6 | c.3856G= (p.Glu1286=) c.3742G= (p.Glu1248=) c.3886G= (p.Glu1296=) c.3661G= (p.Glu1221=) n.214G= c.225G= | |
| 19 | g.7561053G>T | CA403138476 | PNPLA6 | c.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 | |
| 19 | g.7561054A>C | CA403138479 | PNPLA6 | c.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 | |
| 19 | g.7561054A>G | CA403138483 | PNPLA6 | c.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 | |
| 19 | g.7561054A>T | CA403138489 | PNPLA6 | c.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 | |
| 19 | g.7561055G>A | CA505404323 | PNPLA6 | c.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 |
| 19 | g.7561055G>C | CA403138491 | PNPLA6 | c.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 |
| 19 | g.7561055G>T | CA403138494 | PNPLA6 | c.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 | |
| 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 |