Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7561041A>C | CA403138370 | PNPLA6 | c.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 | |
19 | g.7561041A>G | CA403138372 | PNPLA6 | c.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 | |
19 | g.7561041A>T | CA403138374 | PNPLA6 | c.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 | |
19 | g.7561042C>A | CA403138385 | PNPLA6 | c.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 | |
19 | g.7561042C= | CA2320979515 | PNPLA6 | c.3845C= (p.Thr1282=) c.3731C= (p.Thr1244=) c.3875C= (p.Thr1292=) c.3650C= (p.Thr1217=) n.203C= c.214C= | |
19 | g.7561042C>G | CA304883014 | PNPLA6 | c.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 |
19 | g.7561042C>T | CA403138395 | PNPLA6 | c.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 | |
19 | g.7561043T>A | CA505404315 | PNPLA6 | c.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 | |
19 | g.7561043T>C | CA505404316 | PNPLA6 | c.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 |
19 | g.7561043T>G | CA505404314 | PNPLA6 | c.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 | |
19 | g.7561044G>A | CA403138397 | PNPLA6 | c.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 | |
19 | g.7561044G>C | CA403138403 | PNPLA6 | c.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 | |
19 | g.7561044G>T | CA403138400 | PNPLA6 | c.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 | |
19 | g.7561045A>C | CA403138408 | PNPLA6 | c.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 | |
19 | g.7561045A>G | CA403138410 | PNPLA6 | c.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 | |
19 | g.7561045A>T | CA403138412 | PNPLA6 | c.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 | |
19 | g.7561046C>A | CA403138414 | PNPLA6 | c.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 | |
19 | g.7561046C>G | CA403138420 | PNPLA6 | c.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 | |
19 | g.7561046C>T | CA505404317 | PNPLA6 | c.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 | |
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 |
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 | |
19 | g.7561070T>G | CA403138564 | PNPLA6 | c.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 | |
19 | g.7561071G>A | CA403138574 | PNPLA6 | c.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 | |
19 | g.7561071G>C | CA403138576 | PNPLA6 | c.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 | |
19 | g.7561071G>T | CA403138580 | PNPLA6 | c.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 | |
19 | g.7561072A>C | CA403138583 | PNPLA6 | c.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 | |
19 | g.7561072A>G | CA403138587 | PNPLA6 | c.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 | |
19 | g.7561072A>T | CA403138584 | PNPLA6 | c.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 | |
19 | g.7561073G>A | CA505404338 | PNPLA6 | c.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 | |
19 | g.7561073G>C | CA9140617 | PNPLA6 | c.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 |
19 | g.7561073G= | CA2320979526 | PNPLA6 | c.3876G= (p.Glu1292=) c.3762G= (p.Glu1254=) c.3906G= (p.Glu1302=) c.3681G= (p.Glu1227=) n.234G= c.245G= | |
19 | g.7561073G>T | CA403138590 | PNPLA6 | c.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 |
19 | g.7561074C>A | CA403138594 | PNPLA6 | c.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 |
19 | g.7561074C= | CA2320979527 | PNPLA6 | c.3877C= (p.Pro1293=) c.3763C= (p.Pro1255=) c.3907C= (p.Pro1303=) c.3682C= (p.Pro1228=) n.235C= c.246C= | |
19 | g.7561074C>G | CA403138597 | PNPLA6 | c.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 | |
19 | g.7561074C>T | CA403138599 | PNPLA6 | c.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 |
19 | g.7561079dup | CA9140618 | PNPLA6 | c.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 |
19 | g.7561079del | CA505404339 | PNPLA6 | c.3882del (p.Thr1295ArgfsTer17) c.3768del (p.Thr1257ArgfsTer17) c.3912del (p.Thr1305ArgfsTer17) c.3687del (p.Thr1230ArgfsTer17) n.240del c.251del | ClinVar gnomAD v4 COSMIC COSMIC |
19 | g.7561075C>A | CA403138601 | PNPLA6 | c.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 | |
19 | g.7561075C= | CA2320979528 | PNPLA6 | c.3878C= (p.Pro1293=) c.3764C= (p.Pro1255=) c.3908C= (p.Pro1303=) c.3683C= (p.Pro1228=) n.236C= c.247C= | |
19 | g.7561075C>G | CA403138605 | PNPLA6 | c.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 | |
19 | g.7561075C>T | CA403138608 | PNPLA6 | c.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 |
19 | g.7561076C>A | CA505404340 | PNPLA6 | c.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 | |
19 | g.7561076C= | CA2320979529 | PNPLA6 | c.3879C= (p.Pro1293=) c.3765C= (p.Pro1255=) c.3909C= (p.Pro1303=) c.3684C= (p.Pro1228=) n.237C= c.248C= | |
19 | g.7561076C>G | CA505404341 | PNPLA6 | c.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 |
19 | g.7561076C>T | CA505404342 | PNPLA6 | c.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 | |
19 | g.7561077C>A | CA403138612 | PNPLA6 | c.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 | |
19 | g.7561077C= | CA2320979530 | PNPLA6 | c.3880C= (p.Pro1294=) c.3766C= (p.Pro1256=) c.3910C= (p.Pro1304=) c.3685C= (p.Pro1229=) n.238C= c.249C= | |
19 | g.7561077C>G | CA403138613 | PNPLA6 | c.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 | |
19 | g.7561077C>T | CA304883023 | PNPLA6 | c.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 |
19 | g.7561078C>A | CA403138620 | PNPLA6 | c.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 | |
19 | g.7561078C= | CA2320979531 | PNPLA6 | c.3881C= (p.Pro1294=) c.3767C= (p.Pro1256=) c.3911C= (p.Pro1304=) c.3686C= (p.Pro1229=) n.239C= c.250C= | |
19 | g.7561078C>G | CA403138623 | PNPLA6 | c.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 | |
19 | g.7561078C>T | CA403138619 | PNPLA6 | c.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 |
19 | g.7561079C>A | CA505404343 | PNPLA6 | c.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 | |
19 | g.7561079C= | CA2320979532 | PNPLA6 | c.3882C= (p.Pro1294=) c.3768C= (p.Pro1256=) c.3912C= (p.Pro1304=) c.3687C= (p.Pro1229=) n.240C= c.251C= | |
19 | g.7561079C>G | CA9140620 | PNPLA6 | c.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 |
19 | g.7561079C>T | CA9140619 | PNPLA6 | c.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 |
19 | g.7561080A>C | CA403138629 | PNPLA6 | c.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 | |
19 | g.7561080A>G | CA403138631 | PNPLA6 | c.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 |
19 | g.7561080A>T | CA403138633 | PNPLA6 | c.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 |
19 | g.7561081C>A | CA403138638 | PNPLA6 | c.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 |
19 | g.7561081C= | CA2320979533 | PNPLA6 | c.3884C= (p.Thr1295=) c.3770C= (p.Thr1257=) c.3914C= (p.Thr1305=) c.3689C= (p.Thr1230=) n.242C= c.253C= | |
19 | g.7561081C>G | CA403138640 | PNPLA6 | c.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 |
19 | g.7561081C>T | CA9140621 | PNPLA6 | c.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 |
19 | g.7561082G>A | CA9140622 | PNPLA6 | c.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 |
19 | g.7561082G>C | CA505404344 | PNPLA6 | c.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 | |
19 | g.7561082G= | CA2320979534 | PNPLA6 | c.3885G= (p.Thr1295=) c.3771G= (p.Thr1257=) c.3915G= (p.Thr1305=) c.3690G= (p.Thr1230=) n.243G= c.254G= | |
19 | g.7561082G>T | CA505404345 | PNPLA6 | c.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 | |
19 | g.7561082dup | CA2499225642 | PNPLA6 | c.3885dup (p.Ser1296GlufsTer5) c.3771dup (p.Ser1258GlufsTer5) c.3915dup (p.Ser1306GlufsTer5) c.3690dup (p.Ser1231GlufsTer5) n.243dup c.254dup | ClinVar dbSNP |
19 | g.7561083A>C | CA403138657 | PNPLA6 | c.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 | |
19 | g.7561083A>G | CA403138659 | PNPLA6 | c.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 | |
19 | g.7561083A>T | CA403138662 | PNPLA6 | c.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 | |
19 | g.7561084G>A | CA9140623 | PNPLA6 | c.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 |
19 | g.7561084G>C | CA403138667 | PNPLA6 | c.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 | |
19 | g.7561084G= | CA2320979535 | PNPLA6 | c.3887G= (p.Ser1296=) c.3773G= (p.Ser1258=) c.3917G= (p.Ser1306=) c.3692G= (p.Ser1231=) n.245G= c.256G= | |
19 | g.7561084G>T | CA403138670 | PNPLA6 | c.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 | |
19 | g.7561085C>A | CA403138672 | PNPLA6 | c.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 | |
19 | g.7561085C>G | CA403138674 | PNPLA6 | c.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 | |
19 | g.7561085C>T | CA505404346 | PNPLA6 | c.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 |
19 | g.7561086T>A | CA403138678 | PNPLA6 | c.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 | |
19 | g.7561086T>C | CA403138680 | PNPLA6 | c.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 | |
19 | g.7561086T>G | CA403138683 | PNPLA6 | c.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 | |
19 | g.7561087A>C | CA403138688 | PNPLA6 | c.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 | |
19 | g.7561087A>G | CA403138690 | PNPLA6 | c.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 |
19 | g.7561087A>T | CA403138694 | PNPLA6 | c.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 | |
19 | g.7561088T>A | CA403138696 | PNPLA6 | c.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 | |
19 | g.7561088T>C | CA505404347 | PNPLA6 | c.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 | |
19 | g.7561088T>G | CA403138698 | PNPLA6 | c.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 | |
19 | g.7561089G>A | CA403138701 | PNPLA6 | c.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 | |
19 | g.7561089G>C | CA403138706 | PNPLA6 | c.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 | |
19 | g.7561089G>T | CA403138709 | PNPLA6 | c.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 |
19 | g.7561090T>A | CA403138723 | PNPLA6 | c.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 | |
19 | g.7561090T>C | CA403138727 | PNPLA6 | c.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 |
19 | g.7561090T>G | CA403138720 | PNPLA6 | c.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 | |
19 | g.7561091C>A | CA505404348 | PNPLA6 | c.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 | |
19 | g.7561091C>G | CA505404349 | PNPLA6 | c.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 | |
19 | g.7561091C>T | CA505404350 | PNPLA6 | c.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 | |
19 | g.7561092T>A | CA403138733 | PNPLA6 | c.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 | |
19 | g.7561092T>C | CA403138736 | PNPLA6 | c.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 | |
19 | g.7561092T>G | CA403138740 | PNPLA6 | c.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 | |
19 | g.7561093C>A | CA403138742 | PNPLA6 | c.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 | |
19 | g.7561093C>G | CA403138744 | PNPLA6 | c.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 | |
19 | g.7561093C>T | CA403138746 | PNPLA6 | c.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 | |
19 | g.7561094T>A | CA505404351 | PNPLA6 | c.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 | |
19 | g.7561094T>C | CA505404352 | PNPLA6 | c.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 | |
19 | g.7561094T>G | CA505404353 | PNPLA6 | c.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 |
19 | g.7561096_7561098del | CA2587958397 | PNPLA6 | c.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 |
19 | g.7561095G>A | CA403138753 | PNPLA6 | c.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 | |
19 | g.7561095G>C | CA403138751 | PNPLA6 | c.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 | |
19 | g.7561095G>T | CA403138752 | PNPLA6 | c.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 | |
19 | g.7561096A>C | CA403138758 | PNPLA6 | c.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 | |
19 | g.7561096A>G | CA403138759 | PNPLA6 | c.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 | |
19 | g.7561096A>T | CA403138763 | PNPLA6 | c.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 |
19 | g.7561097T>A | CA403138764 | PNPLA6 | c.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 | |
19 | g.7561097T>C | CA505404354 | PNPLA6 | c.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 |
19 | g.7561097T>G | CA403138766 | PNPLA6 | c.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 | |
19 | g.7561097T= | CA2320979536 | PNPLA6 | c.3900T= (p.Asp1300=) c.3786T= (p.Asp1262=) c.3930T= (p.Asp1310=) c.3705T= (p.Asp1235=) n.258T= c.269T= | |
19 | g.7561098G>A | CA403138769 | PNPLA6 | c.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 |
19 | g.7561098G>C | CA403138775 | PNPLA6 | c.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 | |
19 | g.7561098G= | CA2320979537 | PNPLA6 | c.3901G= (p.Gly1301=) c.3787G= (p.Gly1263=) c.3931G= (p.Gly1311=) c.3706G= (p.Gly1236=) n.259G= c.270G= | |
19 | g.7561098G>T | CA403138771 | PNPLA6 | c.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 | |
19 | g.7561099G>A | CA403138777 | PNPLA6 | c.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 |
19 | g.7561099G>C | CA403138780 | PNPLA6 | c.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 | |
19 | g.7561099G>T | CA403138781 | PNPLA6 | c.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 | |
19 | g.7561100C>A | CA505404355 | PNPLA6 | c.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 |
19 | g.7561100C= | CA2320979538 | PNPLA6 | c.3903C= (p.Gly1301=) c.3789C= (p.Gly1263=) c.3933C= (p.Gly1311=) c.3708C= (p.Gly1236=) n.261C= c.272C= | |
19 | g.7561100C>G | CA505404356 | PNPLA6 | c.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 |
19 | g.7561100C>T | CA505404357 | PNPLA6 | c.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 |
19 | g.7561101T>A | CA403138782 | PNPLA6 | c.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 | |
19 | g.7561101T>C | CA403138783 | PNPLA6 | c.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 | |
19 | g.7561101T>G | CA403138784 | PNPLA6 | c.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 | |
19 | g.7561102G>A | CA403138786 | PNPLA6 | c.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 |
19 | g.7561102G>C | CA403138787 | PNPLA6 | c.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 | |
19 | g.7561102G>T | CA403138788 | PNPLA6 | c.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 | |
19 | g.7561103T>A | CA403138791 | PNPLA6 | c.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 | |
19 | g.7561103T>C | CA505404358 | PNPLA6 | c.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 | |
19 | g.7561103T>G | CA403138794 | PNPLA6 | c.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 | |
19 | g.7561104G>A | CA403138799 | PNPLA6 | c.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 | |
19 | g.7561104G>C | CA403138806 | PNPLA6 | c.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 | |
19 | g.7561104G>T | CA403138803 | PNPLA6 | c.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 |
19 | g.7561105C>A | CA403138809 | PNPLA6 | c.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 |
19 | g.7561105C>G | CA403138814 | PNPLA6 | c.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 | |
19 | g.7561105C>T | CA403138811 | PNPLA6 | c.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 | |
19 | g.7561106T>A | CA505404359 | PNPLA6 | c.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 | |
19 | g.7561106T>C | CA505404360 | PNPLA6 | c.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 | |
19 | g.7561106T>G | CA505404361 | PNPLA6 | c.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 | |
19 | g.7561107G>A | CA403138817 | PNPLA6 | c.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 |
19 | g.7561107G>C | CA403138823 | PNPLA6 | c.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 | |
19 | g.7561107G>T | CA403138826 | PNPLA6 | c.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 | |
19 | g.7561108A= | CA2320979539 | PNPLA6 | c.3911A= (p.Asp1304=) c.3797A= (p.Asp1266=) c.3941A= (p.Asp1314=) c.3716A= (p.Asp1239=) n.269A= c.280A= | |
19 | g.7561108A>C | CA403138831 | PNPLA6 | c.3911A>C (p.Asp1304Ala) c.3797A>C (p.Asp1266Ala) c.3941A>C (p.Asp1314Ala) c.3716A>C (p.Asp1239Ala) n.269A>C c.280A>C | |
19 | g.7561108A>G | CA403138833 | PNPLA6 | c.3911A>G (p.Asp1304Gly) c.3797A>G (p.Asp1266Gly) c.3941A>G (p.Asp1314Gly) c.3716A>G (p.Asp1239Gly) n.269A>G c.280A>G | dbSNP gnomAD v4 |
19 | g.7561108A>T | CA403138836 | PNPLA6 | c.3911A>T (p.Asp1304Val) c.3797A>T (p.Asp1266Val) c.3941A>T (p.Asp1314Val) c.3716A>T (p.Asp1239Val) n.269A>T c.280A>T | |
19 | g.7561109C>A | CA403138844 | PNPLA6 | c.3912C>A (p.Asp1304Glu) c.3798C>A (p.Asp1266Glu) c.3942C>A (p.Asp1314Glu) c.3717C>A (p.Asp1239Glu) n.270C>A c.281C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561109C= | CA2320979540 | PNPLA6 | c.3912C= (p.Asp1304=) c.3798C= (p.Asp1266=) c.3942C= (p.Asp1314=) c.3717C= (p.Asp1239=) n.270C= c.281C= | |
19 | g.7561109C>G | CA403138847 | PNPLA6 | c.3912C>G (p.Asp1304Glu) c.3798C>G (p.Asp1266Glu) c.3942C>G (p.Asp1314Glu) c.3717C>G (p.Asp1239Glu) n.270C>G c.281C>G | |
19 | g.7561109C>T | CA9140624 | PNPLA6 | c.3912C>T (p.Asp1304=) c.3798C>T (p.Asp1266=) c.3942C>T (p.Asp1314=) c.3717C>T (p.Asp1239=) n.270C>T c.281C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7561110G>A | CA403138850 | PNPLA6 | c.3913G>A (p.Gly1305Arg) c.3799G>A (p.Gly1267Arg) c.3943G>A (p.Gly1315Arg) c.3718G>A (p.Gly1240Arg) n.271G>A c.282G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561110G>C | CA403138854 | PNPLA6 | c.3913G>C (p.Gly1305Arg) c.3799G>C (p.Gly1267Arg) c.3943G>C (p.Gly1315Arg) c.3718G>C (p.Gly1240Arg) n.271G>C c.282G>C | |
19 | g.7561110G= | CA2320979541 | PNPLA6 | c.3913G= (p.Gly1305=) c.3799G= (p.Gly1267=) c.3943G= (p.Gly1315=) c.3718G= (p.Gly1240=) n.271G= c.282G= | |
19 | g.7561110G>T | CA403138855 | PNPLA6 | c.3913G>T (p.Gly1305Ter) c.3799G>T (p.Gly1267Ter) c.3943G>T (p.Gly1315Ter) c.3718G>T (p.Gly1240Ter) n.271G>T c.282G>T | gnomAD v4 |
19 | g.7561110_7561111insA | CA2813477621 | PNPLA6 | c.3913_3913+1insA (n.3913_3913+1insA) c.3799_3799+1insA (n.3799_3799+1insA) c.3943_3943+1insA (n.3943_3943+1insA) c.3718_3718+1insA (n.3718_3718+1insA) n.271_271+1insA c.282_282+1insA | |
19 | g.7561111G>A | CA9140625 | PNPLA6 | c.3913+1G>A (n.3913+1G>A) c.3799+1G>A (n.3799+1G>A) c.3943+1G>A (n.3943+1G>A) c.3718+1G>A (n.3718+1G>A) n.271+1G>A c.282+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7561111G>C | CA403138861 | PNPLA6 | c.3913+1G>C (n.3913+1G>C) c.3799+1G>C (n.3799+1G>C) c.3943+1G>C (n.3943+1G>C) c.3718+1G>C (n.3718+1G>C) n.271+1G>C c.282+1G>C | |
19 | g.7561111G= | CA2320979542 | PNPLA6 | c.3913+1G= (n.3913+1G=) c.3799+1G= (n.3799+1G=) c.3943+1G= (n.3943+1G=) c.3718+1G= (n.3718+1G=) n.271+1G= c.282+1G= | |
19 | g.7561111G>T | CA403138858 | PNPLA6 | c.3913+1G>T (n.3913+1G>T) c.3799+1G>T (n.3799+1G>T) c.3943+1G>T (n.3943+1G>T) c.3718+1G>T (n.3718+1G>T) n.271+1G>T c.282+1G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561112T>A | CA403138870 | PNPLA6 | c.3913+2T>A (n.3913+2T>A) c.3799+2T>A (n.3799+2T>A) c.3943+2T>A (n.3943+2T>A) c.3718+2T>A (n.3718+2T>A) n.271+2T>A c.282+2T>A | |
19 | g.7561112T>C | CA403138871 | PNPLA6 | c.3913+2T>C (n.3913+2T>C) c.3799+2T>C (n.3799+2T>C) c.3943+2T>C (n.3943+2T>C) c.3718+2T>C (n.3718+2T>C) n.271+2T>C c.282+2T>C | |
19 | g.7561112T>G | CA403138875 | PNPLA6 | c.3913+2T>G (n.3913+2T>G) c.3799+2T>G (n.3799+2T>G) c.3943+2T>G (n.3943+2T>G) c.3718+2T>G (n.3718+2T>G) n.271+2T>G c.282+2T>G | |
19 | g.7561113G>A | CA2587958398 | PNPLA6 | c.3913+3G>A (n.3913+3G>A) c.3799+3G>A (n.3799+3G>A) c.3943+3G>A (n.3943+3G>A) c.3718+3G>A (n.3718+3G>A) n.271+3G>A c.282+3G>A | gnomAD v4 |
19 | g.7561113G>C | CA2587958399 | PNPLA6 | c.3913+3G>C (n.3913+3G>C) c.3799+3G>C (n.3799+3G>C) c.3943+3G>C (n.3943+3G>C) c.3718+3G>C (n.3718+3G>C) n.271+3G>C c.282+3G>C | gnomAD v4 |
19 | g.7561114A>G | CA2587958400 | PNPLA6 | c.3913+4A>G (n.3913+4A>G) c.3799+4A>G (n.3799+4A>G) c.3943+4A>G (n.3943+4A>G) c.3718+4A>G (n.3718+4A>G) n.271+4A>G c.282+4A>G | gnomAD v4 |
19 | g.7561118del | CA2587958401 | PNPLA6 | c.3913+8del (n.3913+8del) c.3799+8del (n.3799+8del) c.3943+8del (n.3943+8del) c.3718+8del (n.3718+8del) n.271+8del c.282+8del | gnomAD v4 |
19 | g.7561116G>A | CA631462701 | PNPLA6 | c.3913+6G>A (n.3913+6G>A) c.3799+6G>A (n.3799+6G>A) c.3943+6G>A (n.3943+6G>A) c.3718+6G>A (n.3718+6G>A) n.271+6G>A c.282+6G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561116G= | CA2320979543 | PNPLA6 | c.3913+6G= (n.3913+6G=) c.3799+6G= (n.3799+6G=) c.3943+6G= (n.3943+6G=) c.3718+6G= (n.3718+6G=) n.271+6G= c.282+6G= | |
19 | g.7561116G>T | CA2587958402 | PNPLA6 | c.3913+6G>T (n.3913+6G>T) c.3799+6G>T (n.3799+6G>T) c.3943+6G>T (n.3943+6G>T) c.3718+6G>T (n.3718+6G>T) n.271+6G>T c.282+6G>T | gnomAD v4 |
19 | g.7561117G>T | CA2587958403 | PNPLA6 | c.3913+7G>T (n.3913+7G>T) c.3799+7G>T (n.3799+7G>T) c.3943+7G>T (n.3943+7G>T) c.3718+7G>T (n.3718+7G>T) n.271+7G>T c.282+7G>T | gnomAD v4 |
19 | g.7561118G= | CA2320979544 | PNPLA6 | c.3913+8G= (n.3913+8G=) c.3799+8G= (n.3799+8G=) c.3943+8G= (n.3943+8G=) c.3718+8G= (n.3718+8G=) n.271+8G= c.282+8G= | |
19 | g.7561118G>T | CA9140626 | PNPLA6 | c.3913+8G>T (n.3913+8G>T) c.3799+8G>T (n.3799+8G>T) c.3943+8G>T (n.3943+8G>T) c.3718+8G>T (n.3718+8G>T) n.271+8G>T c.282+8G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561119C>A | CA2587958405 | PNPLA6 | c.3913+9C>A (n.3913+9C>A) c.3799+9C>A (n.3799+9C>A) c.3943+9C>A (n.3943+9C>A) c.3718+9C>A (n.3718+9C>A) n.271+9C>A c.282+9C>A | gnomAD v4 |
19 | g.7561119C= | CA2320979545 | PNPLA6 | c.3913+9C= (n.3913+9C=) c.3799+9C= (n.3799+9C=) c.3943+9C= (n.3943+9C=) c.3718+9C= (n.3718+9C=) n.271+9C= c.282+9C= | |
19 | g.7561119C>T | CA9140627 | PNPLA6 | c.3913+9C>T (n.3913+9C>T) c.3799+9C>T (n.3799+9C>T) c.3943+9C>T (n.3943+9C>T) c.3718+9C>T (n.3718+9C>T) n.271+9C>T c.282+9C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561121del | CA2587958404 | PNPLA6 | c.3913+11del (n.3913+11del) c.3799+11del (n.3799+11del) c.3943+11del (n.3943+11del) c.3718+11del (n.3718+11del) n.271+11del c.282+11del | gnomAD v4 |
19 | g.7561120C>A | CA645605241 | PNPLA6 | c.3913+10C>A (n.3913+10C>A) c.3799+10C>A (n.3799+10C>A) c.3943+10C>A (n.3943+10C>A) c.3718+10C>A (n.3718+10C>A) n.271+10C>A c.282+10C>A | gnomAD v4 COSMIC COSMIC |
19 | g.7561120C>T | CA2576598142 | PNPLA6 | c.3913+10C>T (n.3913+10C>T) c.3799+10C>T (n.3799+10C>T) c.3943+10C>T (n.3943+10C>T) c.3718+10C>T (n.3718+10C>T) n.271+10C>T c.282+10C>T | |
19 | g.7561121C>A | CA2587958406 | PNPLA6 | c.3913+11C>A (n.3913+11C>A) c.3799+11C>A (n.3799+11C>A) c.3943+11C>A (n.3943+11C>A) c.3718+11C>A (n.3718+11C>A) n.271+11C>A c.282+11C>A | gnomAD v4 |
19 | g.7561122A= | CA2320979546 | PNPLA6 | c.3913+12A= (n.3913+12A=) c.3799+12A= (n.3799+12A=) c.3943+12A= (n.3943+12A=) c.3718+12A= (n.3718+12A=) n.271+12A= c.282+12A= | |
19 | g.7561122A>C | CA304883037 | PNPLA6 | c.3913+12A>C (n.3913+12A>C) c.3799+12A>C (n.3799+12A>C) c.3943+12A>C (n.3943+12A>C) c.3718+12A>C (n.3718+12A>C) n.271+12A>C c.282+12A>C | dbSNP |
19 | g.7561122A>G | CA9140628 | PNPLA6 | c.3913+12A>G (n.3913+12A>G) c.3799+12A>G (n.3799+12A>G) c.3943+12A>G (n.3943+12A>G) c.3718+12A>G (n.3718+12A>G) n.271+12A>G c.282+12A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7561122A>T | CA2587958407 | PNPLA6 | c.3913+12A>T (n.3913+12A>T) c.3799+12A>T (n.3799+12A>T) c.3943+12A>T (n.3943+12A>T) c.3718+12A>T (n.3718+12A>T) n.271+12A>T c.282+12A>T | gnomAD v4 |
19 | g.7561123G>C | CA2320979548 | PNPLA6 | c.3913+13G>C (n.3913+13G>C) c.3799+13G>C (n.3799+13G>C) c.3943+13G>C (n.3943+13G>C) c.3718+13G>C (n.3718+13G>C) n.271+13G>C c.282+13G>C | dbSNP gnomAD v4 |
19 | g.7561123G= | CA2320979547 | PNPLA6 | c.3913+13G= (n.3913+13G=) c.3799+13G= (n.3799+13G=) c.3943+13G= (n.3943+13G=) c.3718+13G= (n.3718+13G=) n.271+13G= c.282+13G= | |
19 | g.7561123G>T | CA2587958408 | PNPLA6 | c.3913+13G>T (n.3913+13G>T) c.3799+13G>T (n.3799+13G>T) c.3943+13G>T (n.3943+13G>T) c.3718+13G>T (n.3718+13G>T) n.271+13G>T c.282+13G>T | gnomAD v4 |
19 | g.7561126del | CA2576598143 | PNPLA6 | c.3913+16del (n.3913+16del) c.3799+16del (n.3799+16del) c.3943+16del (n.3943+16del) c.3718+16del (n.3718+16del) n.271+16del c.282+16del | gnomAD v4 |
19 | g.7561124G>A | CA2587958409 | PNPLA6 | c.3913+14G>A (n.3913+14G>A) c.3799+14G>A (n.3799+14G>A) c.3943+14G>A (n.3943+14G>A) c.3718+14G>A (n.3718+14G>A) n.271+14G>A c.282+14G>A | gnomAD v4 |
19 | g.7561125G>A | CA2573155925 | PNPLA6 | c.3913+15G>A (n.3913+15G>A) c.3799+15G>A (n.3799+15G>A) c.3943+15G>A (n.3943+15G>A) c.3718+15G>A (n.3718+15G>A) n.271+15G>A c.282+15G>A | ClinVar dbSNP |
19 | g.7561125G>T | CA2587958410 | PNPLA6 | c.3913+15G>T (n.3913+15G>T) c.3799+15G>T (n.3799+15G>T) c.3943+15G>T (n.3943+15G>T) c.3718+15G>T (n.3718+15G>T) n.271+15G>T c.282+15G>T | gnomAD v4 |
19 | g.7561126_7561127delinsGA | CA2320979550 | PNPLA6 | c.3913+16_3913+17delinsGA (n.3913+16_3913+17delinsGA) c.3799+16_3799+17delinsGA (n.3799+16_3799+17delinsGA) c.3943+16_3943+17delinsGA (n.3943+16_3943+17delinsGA) c.3718+16_3718+17delinsGA (n.3718+16_3718+17delinsGA) n.271+16_271+17delinsGA c.282+16_282+17delinsGA | |
19 | g.7561126_7561128delinsGAC | CA2320979549 | PNPLA6 | c.3913+16_3913+18delinsGAC (n.3913+16_3913+18delinsGAC) c.3799+16_3799+18delinsGAC (n.3799+16_3799+18delinsGAC) c.3943+16_3943+18delinsGAC (n.3943+16_3943+18delinsGAC) c.3718+16_3718+18delinsGAC (n.3718+16_3718+18delinsGAC) n.271+16_271+18delinsGAC c.282+16_282+18delinsGAC | |
19 | g.7561127del | CA920050161 | PNPLA6 | c.3913+17del (n.3913+17del) c.3799+17del (n.3799+17del) c.3943+17del (n.3943+17del) c.3718+17del (n.3718+17del) n.271+17del c.282+17del | dbSNP |
19 | g.7561127A>C | CA2587958411 | PNPLA6 | c.3913+17A>C (n.3913+17A>C) c.3799+17A>C (n.3799+17A>C) c.3943+17A>C (n.3943+17A>C) c.3718+17A>C (n.3718+17A>C) n.271+17A>C c.282+17A>C | gnomAD v4 |
19 | g.7561127A>G | CA2587958412 | PNPLA6 | c.3913+17A>G (n.3913+17A>G) c.3799+17A>G (n.3799+17A>G) c.3943+17A>G (n.3943+17A>G) c.3718+17A>G (n.3718+17A>G) n.271+17A>G c.282+17A>G | gnomAD v4 |
19 | g.7561127_7561128del | CA884242644 | PNPLA6 | c.3913+17_3913+18del (n.3913+17_3913+18del) c.3799+17_3799+18del (n.3799+17_3799+18del) c.3943+17_3943+18del (n.3943+17_3943+18del) c.3718+17_3718+18del (n.3718+17_3718+18del) n.271+17_271+18del c.282+17_282+18del | ClinVar dbSNP gnomAD v4 |
19 | g.7561127_7561128delinsAC | CA2497029943 | PNPLA6 | c.3913+17_3913+18delinsAC (n.3913+17_3913+18delinsAC) c.3799+17_3799+18delinsAC (n.3799+17_3799+18delinsAC) c.3943+17_3943+18delinsAC (n.3943+17_3943+18delinsAC) c.3718+17_3718+18delinsAC (n.3718+17_3718+18delinsAC) n.271+17_271+18delinsAC c.282+17_282+18delinsAC | |
19 | g.7561127_7561129delinsACC | CA2320979551 | PNPLA6 | c.3913+17_3913+19delinsACC (n.3913+17_3913+19delinsACC) c.3799+17_3799+19delinsACC (n.3799+17_3799+19delinsACC) c.3943+17_3943+19delinsACC (n.3943+17_3943+19delinsACC) c.3718+17_3718+19delinsACC (n.3718+17_3718+19delinsACC) n.271+17_271+19delinsACC c.282+17_282+19delinsACC | |
19 | g.7561128C>A | CA2320979553 | PNPLA6 | c.3913+18C>A (n.3913+18C>A) c.3799+18C>A (n.3799+18C>A) c.3943+18C>A (n.3943+18C>A) c.3718+18C>A (n.3718+18C>A) n.271+18C>A c.282+18C>A | dbSNP gnomAD v4 |
19 | g.7561128C= | CA2320979552 | PNPLA6 | c.3913+18C= (n.3913+18C=) c.3799+18C= (n.3799+18C=) c.3943+18C= (n.3943+18C=) c.3718+18C= (n.3718+18C=) n.271+18C= c.282+18C= | |
19 | g.7561128C>G | CA2587958413 | PNPLA6 | c.3913+18C>G (n.3913+18C>G) c.3799+18C>G (n.3799+18C>G) c.3943+18C>G (n.3943+18C>G) c.3718+18C>G (n.3718+18C>G) n.271+18C>G c.282+18C>G | gnomAD v4 |
19 | g.7561128C>T | CA631462704 | PNPLA6 | c.3913+18C>T (n.3913+18C>T) c.3799+18C>T (n.3799+18C>T) c.3943+18C>T (n.3943+18C>T) c.3718+18C>T (n.3718+18C>T) n.271+18C>T c.282+18C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561133dup | CA9140630 | PNPLA6 | c.3913+23dup (n.3913+23dup) c.3799+23dup (n.3799+23dup) c.3943+23dup (n.3943+23dup) c.3718+23dup (n.3718+23dup) n.271+23dup c.282+23dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561133del | CA9140629 | PNPLA6 | c.3913+23del (n.3913+23del) c.3799+23del (n.3799+23del) c.3943+23del (n.3943+23del) c.3718+23del (n.3718+23del) n.271+23del c.282+23del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561132_7561133del | CA993168841 | PNPLA6 | c.3913+22_3913+23del (n.3913+22_3913+23del) c.3799+22_3799+23del (n.3799+22_3799+23del) c.3943+22_3943+23del (n.3943+22_3943+23del) c.3718+22_3718+23del (n.3718+22_3718+23del) n.271+22_271+23del c.282+22_282+23del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7561129C>A | CA9140631 | PNPLA6 | c.3913+19C>A (n.3913+19C>A) c.3799+19C>A (n.3799+19C>A) c.3943+19C>A (n.3943+19C>A) c.3718+19C>A (n.3718+19C>A) n.271+19C>A c.282+19C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7561129C= | CA2320979554 | PNPLA6 | c.3913+19C= (n.3913+19C=) c.3799+19C= (n.3799+19C=) c.3943+19C= (n.3943+19C=) c.3718+19C= (n.3718+19C=) n.271+19C= c.282+19C= | |
19 | g.7561129C>T | CA2320979555 | PNPLA6 | c.3913+19C>T (n.3913+19C>T) c.3799+19C>T (n.3799+19C>T) c.3943+19C>T (n.3943+19C>T) c.3718+19C>T (n.3718+19C>T) n.271+19C>T c.282+19C>T | dbSNP |
19 | g.7561130C>A | CA2587958414 | PNPLA6 | c.3913+20C>A (n.3913+20C>A) c.3799+20C>A (n.3799+20C>A) c.3943+20C>A (n.3943+20C>A) c.3718+20C>A (n.3718+20C>A) n.271+20C>A c.282+20C>A | gnomAD v4 |
19 | g.7561132C>A | CA2587958415 | PNPLA6 | c.3913+22C>A (n.3913+22C>A) c.3799+22C>A (n.3799+22C>A) c.3943+22C>A (n.3943+22C>A) c.3718+22C>A (n.3718+22C>A) n.271+22C>A c.282+22C>A | gnomAD v4 |
19 | g.7561132C= | CA2320979556 | PNPLA6 | c.3913+22C= (n.3913+22C=) c.3799+22C= (n.3799+22C=) c.3943+22C= (n.3943+22C=) c.3718+22C= (n.3718+22C=) n.271+22C= c.282+22C= | |
19 | g.7561132C>T | CA9140632 | PNPLA6 | c.3913+22C>T (n.3913+22C>T) c.3799+22C>T (n.3799+22C>T) c.3943+22C>T (n.3943+22C>T) c.3718+22C>T (n.3718+22C>T) n.271+22C>T c.282+22C>T | dbSNP ExAC gnomAD v2 |
19 | g.7561132_7561134delinsCCA | CA2320979557 | PNPLA6 | c.3913+22_3913+24delinsCCA (n.3913+22_3913+24delinsCCA) c.3799+22_3799+24delinsCCA (n.3799+22_3799+24delinsCCA) c.3943+22_3943+24delinsCCA (n.3943+22_3943+24delinsCCA) c.3718+22_3718+24delinsCCA (n.3718+22_3718+24delinsCCA) n.271+22_271+24delinsCCA c.282+22_282+24delinsCCA | |
19 | g.7561133C>A | CA2320979558 | PNPLA6 | c.3913+23C>A (n.3913+23C>A) c.3799+23C>A (n.3799+23C>A) c.3943+23C>A (n.3943+23C>A) c.3718+23C>A (n.3718+23C>A) n.271+23C>A c.282+23C>A | dbSNP gnomAD v4 |
19 | g.7561133C= | CA2320979559 | PNPLA6 | c.3913+23C= (n.3913+23C=) c.3799+23C= (n.3799+23C=) c.3943+23C= (n.3943+23C=) c.3718+23C= (n.3718+23C=) n.271+23C= c.282+23C= | |
19 | g.7561133C>T | CA631462706 | PNPLA6 | c.3913+23C>T (n.3913+23C>T) c.3799+23C>T (n.3799+23C>T) c.3943+23C>T (n.3943+23C>T) c.3718+23C>T (n.3718+23C>T) n.271+23C>T c.282+23C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561133_7561134del | CA631462705 | PNPLA6 | c.3913+23_3913+24del (n.3913+23_3913+24del) c.3799+23_3799+24del (n.3799+23_3799+24del) c.3943+23_3943+24del (n.3943+23_3943+24del) c.3718+23_3718+24del (n.3718+23_3718+24del) n.271+23_271+24del c.282+23_282+24del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561136G>C | CA2587958416 | PNPLA6 | c.3913+26G>C (n.3913+26G>C) c.3799+26G>C (n.3799+26G>C) c.3943+26G>C (n.3943+26G>C) c.3718+26G>C (n.3718+26G>C) n.271+26G>C c.282+26G>C | gnomAD v4 |
19 | g.7561136G>T | CA2587958417 | PNPLA6 | c.3913+26G>T (n.3913+26G>T) c.3799+26G>T (n.3799+26G>T) c.3943+26G>T (n.3943+26G>T) c.3718+26G>T (n.3718+26G>T) n.271+26G>T c.282+26G>T | gnomAD v4 |
19 | g.7561137A= | CA2320979560 | PNPLA6 | c.3913+27A= (n.3913+27A=) c.3799+27A= (n.3799+27A=) c.3943+27A= (n.3943+27A=) c.3718+27A= (n.3718+27A=) n.271+27A= c.282+27A= | |
19 | g.7561137A>G | CA884242645 | PNPLA6 | c.3913+27A>G (n.3913+27A>G) c.3799+27A>G (n.3799+27A>G) c.3943+27A>G (n.3943+27A>G) c.3718+27A>G (n.3718+27A>G) n.271+27A>G c.282+27A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7561138G>A | CA304883044 | PNPLA6 | c.3913+28G>A (n.3913+28G>A) c.3799+28G>A (n.3799+28G>A) c.3943+28G>A (n.3943+28G>A) c.3718+28G>A (n.3718+28G>A) n.271+28G>A c.282+28G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7561138G= | CA2320979561 | PNPLA6 | c.3913+28G= (n.3913+28G=) c.3799+28G= (n.3799+28G=) c.3943+28G= (n.3943+28G=) c.3718+28G= (n.3718+28G=) n.271+28G= c.282+28G= | |
19 | g.7561139G= | CA2320979562 | PNPLA6 | c.3913+29G= (n.3913+29G=) c.3799+29G= (n.3799+29G=) c.3943+29G= (n.3943+29G=) c.3718+29G= (n.3718+29G=) n.271+29G= c.282+29G= | |
19 | g.7561139G>T | CA304883046 | PNPLA6 | c.3913+29G>T (n.3913+29G>T) c.3799+29G>T (n.3799+29G>T) c.3943+29G>T (n.3943+29G>T) c.3718+29G>T (n.3718+29G>T) n.271+29G>T c.282+29G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561140G>A | CA631462707 | PNPLA6 | c.3913+30G>A (n.3913+30G>A) c.3799+30G>A (n.3799+30G>A) c.3943+30G>A (n.3943+30G>A) c.3718+30G>A (n.3718+30G>A) n.271+30G>A c.282+30G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561140G= | CA2320979563 | PNPLA6 | c.3913+30G= (n.3913+30G=) c.3799+30G= (n.3799+30G=) c.3943+30G= (n.3943+30G=) c.3718+30G= (n.3718+30G=) n.271+30G= c.282+30G= |