Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7560674G>A | CA9140564 | PNPLA6 | c.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 |
19 | g.7560674G>C | CA505245112 | PNPLA6 | c.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 | |
19 | g.7560674G= | CA2320979325 | PNPLA6 | c.3726G= (p.Ala1242=) c.3612G= (p.Ala1204=) c.3756G= (p.Ala1252=) c.3531G= (p.Ala1177=) n.84G= c.186-340G= | |
19 | g.7560674G>T | CA505245113 | PNPLA6 | c.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 |
19 | g.7560675G>A | CA403137456 | PNPLA6 | c.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 | |
19 | g.7560675G>C | CA9140565 | PNPLA6 | c.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 |
19 | g.7560675G= | CA2320979326 | PNPLA6 | c.3727G= (p.Val1243=) c.3613G= (p.Val1205=) c.3757G= (p.Val1253=) c.3532G= (p.Val1178=) n.85G= c.186-339G= | |
19 | g.7560675G>T | CA403137460 | PNPLA6 | c.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 |
19 | g.7560676T>A | CA403137463 | PNPLA6 | c.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 | |
19 | g.7560676T>C | CA9140566 | PNPLA6 | c.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 |
19 | g.7560676T>G | CA403137467 | PNPLA6 | c.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 | |
19 | g.7560676T= | CA2320979327 | PNPLA6 | c.3728T= (p.Val1243=) c.3614T= (p.Val1205=) c.3758T= (p.Val1253=) c.3533T= (p.Val1178=) n.86T= c.186-338T= | |
19 | g.7560677G>A | CA505245114 | PNPLA6 | c.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 | |
19 | g.7560677G>C | CA505245115 | PNPLA6 | c.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 | |
19 | g.7560677G>T | CA505245116 | PNPLA6 | c.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 | |
19 | g.7560678T>A | CA403137475 | PNPLA6 | c.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 | |
19 | g.7560678T>C | CA403137472 | PNPLA6 | c.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 | |
19 | g.7560678T>G | CA403137471 | PNPLA6 | c.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 | |
19 | g.7560679T>A | CA403137478 | PNPLA6 | c.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 | |
19 | g.7560679T>C | CA403137480 | PNPLA6 | c.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 | |
19 | g.7560679T>G | CA403137482 | PNPLA6 | c.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 | |
19 | g.7560680T>A | CA403137486 | PNPLA6 | c.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 | |
19 | g.7560680T>C | CA304882912 | PNPLA6 | c.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 |
19 | g.7560680T>G | CA403137489 | PNPLA6 | c.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 |
19 | g.7560680T= | CA2320979328 | PNPLA6 | c.3732T= (p.Phe1244=) c.3618T= (p.Phe1206=) c.3762T= (p.Phe1254=) c.3537T= (p.Phe1179=) n.90T= c.186-334T= | |
19 | g.7560681G>A | CA403137493 | PNPLA6 | c.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 | |
19 | g.7560681G>C | CA403137495 | PNPLA6 | c.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 |
19 | g.7560681G= | CA2320979329 | PNPLA6 | c.3733G= (p.Gly1245=) c.3619G= (p.Gly1207=) c.3763G= (p.Gly1255=) c.3538G= (p.Gly1180=) n.91G= c.186-333G= | |
19 | g.7560681G>T | CA403137498 | PNPLA6 | c.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 | |
19 | g.7560682G>A | CA403137501 | PNPLA6 | c.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 |
19 | g.7560682G>C | CA403137504 | PNPLA6 | c.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 | |
19 | g.7560682G>T | CA403137506 | PNPLA6 | c.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 | |
19 | g.7560683A>C | CA505245117 | PNPLA6 | c.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 | |
19 | g.7560683A>G | CA505245118 | PNPLA6 | c.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 | |
19 | g.7560683A>T | CA505245119 | PNPLA6 | c.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 | |
19 | g.7560684G>A | CA403137510 | PNPLA6 | c.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 | |
19 | g.7560684G>C | CA403137512 | PNPLA6 | c.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 | |
19 | g.7560684G>T | CA403137515 | PNPLA6 | c.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 | |
19 | g.7560685G>A | CA403137522 | PNPLA6 | c.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 |
19 | g.7560685G>C | CA403137525 | PNPLA6 | c.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 | |
19 | g.7560685G>T | CA403137519 | PNPLA6 | c.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 | |
19 | g.7560686C>A | CA505245120 | PNPLA6 | c.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 |
19 | g.7560686C>G | CA505245123 | PNPLA6 | c.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 | |
19 | g.7560686C>T | CA505245121 | PNPLA6 | c.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 | |
19 | g.7560687T>A | CA403137529 | PNPLA6 | c.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 | |
19 | g.7560687T>C | CA9140567 | PNPLA6 | c.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 |
19 | g.7560687T>G | CA403137532 | PNPLA6 | c.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 | |
19 | g.7560687T= | CA2320979330 | PNPLA6 | c.3739T= (p.Trp1247=) c.3625T= (p.Trp1209=) c.3769T= (p.Trp1257=) c.3544T= (p.Trp1182=) n.97T= c.186-327T= | |
19 | g.7560688G>A | CA403137542 | PNPLA6 | c.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 | |
19 | g.7560688G>C | CA403137544 | PNPLA6 | c.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 | |
19 | g.7560688G>T | CA403137548 | PNPLA6 | c.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 | |
19 | g.7560689G>A | CA403137551 | PNPLA6 | c.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 | |
19 | g.7560689G>C | CA403137554 | PNPLA6 | c.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 | |
19 | g.7560689G>T | CA403137557 | PNPLA6 | c.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 | |
19 | g.7560690A= | CA2320979331 | PNPLA6 | c.3742A= (p.Ser1248=) c.3628A= (p.Ser1210=) c.3772A= (p.Ser1258=) c.3547A= (p.Ser1183=) n.100A= c.186-324A= | |
19 | g.7560690A>C | CA403137560 | PNPLA6 | c.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 | |
19 | g.7560690A>G | CA403137563 | PNPLA6 | c.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 |
19 | g.7560690A>T | CA403137565 | PNPLA6 | c.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 | |
19 | g.7560691G>A | CA403137568 | PNPLA6 | c.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 | |
19 | g.7560691G>C | CA403137571 | PNPLA6 | c.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 | |
19 | g.7560691G>T | CA403137573 | PNPLA6 | c.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 | |
19 | g.7560692C>A | CA403137577 | PNPLA6 | c.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 | |
19 | g.7560692C= | CA2320979332 | PNPLA6 | c.3744C= (p.Ser1248=) c.3630C= (p.Ser1210=) c.3774C= (p.Ser1258=) c.3549C= (p.Ser1183=) n.102C= c.186-322C= | |
19 | g.7560692C>G | CA403137575 | PNPLA6 | c.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 |
19 | g.7560692C>T | CA304882915 | PNPLA6 | c.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 |
19 | g.7560693C>A | CA403137580 | PNPLA6 | c.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 | |
19 | g.7560693C= | CA2320979333 | PNPLA6 | c.3745C= (p.Arg1249=) c.3631C= (p.Arg1211=) c.3775C= (p.Arg1259=) c.3550C= (p.Arg1184=) n.103C= c.186-321C= | |
19 | g.7560693C>G | CA403137581 | PNPLA6 | c.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 | |
19 | g.7560693C>T | CA9140568 | PNPLA6 | c.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 |
19 | g.7560694G>A | CA9140569 | PNPLA6 | c.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 |
19 | g.7560694G>C | CA403137589 | PNPLA6 | c.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 | |
19 | g.7560694G= | CA2320979334 | PNPLA6 | c.3746G= (p.Arg1249=) c.3632G= (p.Arg1211=) c.3776G= (p.Arg1259=) c.3551G= (p.Arg1184=) n.104G= c.186-320G= | |
19 | g.7560694G>T | CA403137591 | PNPLA6 | c.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 | |
19 | g.7560695T>A | CA505245132 | PNPLA6 | c.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 | |
19 | g.7560695T>C | CA505245134 | PNPLA6 | c.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 | |
19 | g.7560695T>G | CA505245135 | PNPLA6 | c.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 | |
19 | g.7560696G>A | CA403137593 | PNPLA6 | c.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 | |
19 | g.7560696G>C | CA403137596 | PNPLA6 | c.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 | |
19 | g.7560696G>T | CA403137598 | PNPLA6 | c.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 | |
19 | g.7560697G>A | CA403137602 | PNPLA6 | c.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 |
19 | g.7560697G>C | CA403137604 | PNPLA6 | c.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 | |
19 | g.7560697G>T | CA403137606 | PNPLA6 | c.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 | |
19 | g.7560698C>A | CA505245145 | PNPLA6 | c.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 |
19 | g.7560698C= | CA2320979335 | PNPLA6 | c.3750C= (p.Gly1250=) c.3636C= (p.Gly1212=) c.3780C= (p.Gly1260=) c.3555C= (p.Gly1185=) n.108C= c.186-316C= | |
19 | g.7560698C>G | CA505245146 | PNPLA6 | c.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 | |
19 | g.7560698C>T | CA505245148 | PNPLA6 | c.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 |
19 | g.7560699A>C | CA403137614 | PNPLA6 | c.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 | |
19 | g.7560699A>G | CA403137612 | PNPLA6 | c.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 | |
19 | g.7560699A>T | CA403137610 | PNPLA6 | c.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 | |
19 | g.7560700A>C | CA403137616 | PNPLA6 | c.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 | |
19 | g.7560700A>G | CA403137617 | PNPLA6 | c.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 | |
19 | g.7560700A>T | CA403137620 | PNPLA6 | c.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 | |
19 | g.7560701C>A | CA403137623 | PNPLA6 | c.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 | |
19 | g.7560701C= | CA2320979336 | PNPLA6 | c.3753C= (p.Asn1251=) c.3639C= (p.Asn1213=) c.3783C= (p.Asn1261=) c.3558C= (p.Asn1186=) n.111C= c.186-313C= | |
19 | g.7560701C>G | CA403137626 | PNPLA6 | c.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 | |
19 | g.7560701C>T | CA9140570 | PNPLA6 | c.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 |
19 | g.7560702G>A | CA9140571 | PNPLA6 | c.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 |
19 | g.7560702G>C | CA403137632 | PNPLA6 | c.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 | |
19 | g.7560702G= | CA2320979337 | PNPLA6 | c.3754G= (p.Val1252=) c.3640G= (p.Val1214=) c.3784G= (p.Val1262=) c.3559G= (p.Val1187=) n.112G= c.186-312G= | |
19 | g.7560702G>T | CA403137635 | PNPLA6 | c.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 | |
19 | g.7560703T>A | CA403137638 | PNPLA6 | c.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 | |
19 | g.7560703T>C | CA403137639 | PNPLA6 | c.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 | |
19 | g.7560703T>G | CA403137641 | PNPLA6 | c.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 | |
19 | g.7560704C>A | CA505245171 | PNPLA6 | c.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 | |
19 | g.7560704C>G | CA505245169 | PNPLA6 | c.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 | |
19 | g.7560704C>T | CA505245167 | PNPLA6 | c.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 |
19 | g.7560705A>C | CA403137650 | PNPLA6 | c.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 | |
19 | g.7560705A>G | CA403137647 | PNPLA6 | c.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 | |
19 | g.7560705A>T | CA403137644 | PNPLA6 | c.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 | |
19 | g.7560706T>A | CA403137653 | PNPLA6 | c.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 | |
19 | g.7560706T>C | CA403137655 | PNPLA6 | c.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 | |
19 | g.7560706T>G | CA403137658 | PNPLA6 | c.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 | |
19 | g.7560707T>A | CA505245180 | PNPLA6 | c.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 | |
19 | g.7560707T>C | CA505245182 | PNPLA6 | c.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 | |
19 | g.7560707T>G | CA403137660 | PNPLA6 | c.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 |
19 | g.7560708G>A | CA403137663 | PNPLA6 | c.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 | |
19 | g.7560708G>C | CA403137666 | PNPLA6 | c.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 | |
19 | g.7560708G>T | CA403137668 | PNPLA6 | c.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 | |
19 | g.7560709A>C | CA403137672 | PNPLA6 | c.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 | |
19 | g.7560709A>G | CA403137675 | PNPLA6 | c.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 | |
19 | g.7560709A>T | CA403137678 | PNPLA6 | c.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 | |
19 | g.7560710G>A | CA505245191 | PNPLA6 | c.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 | |
19 | g.7560710G>C | CA403137682 | PNPLA6 | c.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 | |
19 | g.7560710G>T | CA403137685 | PNPLA6 | c.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 | |
19 | g.7560711A>C | CA403137692 | PNPLA6 | c.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 | |
19 | g.7560711A>G | CA403137690 | PNPLA6 | c.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 | |
19 | g.7560711A>T | CA403137688 | PNPLA6 | c.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 | |
19 | g.7560712A>C | CA403137694 | PNPLA6 | c.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 | |
19 | g.7560712A>G | CA403137698 | PNPLA6 | c.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 | |
19 | g.7560712A>T | CA403137695 | PNPLA6 | c.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 | |
19 | g.7560713A= | CA2320979338 | PNPLA6 | c.3765A= (p.Lys1255=) c.3651A= (p.Lys1217=) c.3795A= (p.Lys1265=) c.3570A= (p.Lys1190=) n.123A= c.186-301A= | |
19 | g.7560713A>C | CA403137701 | PNPLA6 | c.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 |
19 | g.7560713A>G | CA505245203 | PNPLA6 | c.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 | |
19 | g.7560713A>T | CA403137702 | PNPLA6 | c.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 | |
19 | g.7560714A>C | CA403137706 | PNPLA6 | c.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 | |
19 | g.7560714A>G | CA403137708 | PNPLA6 | c.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 |
19 | g.7560714A>T | CA403137710 | PNPLA6 | c.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 | |
19 | g.7560715T>A | CA403137718 | PNPLA6 | c.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 | |
19 | g.7560715T>C | CA403137715 | PNPLA6 | c.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 | |
19 | g.7560715T>G | CA403137712 | PNPLA6 | c.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 | |
19 | g.7560716G>A | CA403137720 | PNPLA6 | c.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 | |
19 | g.7560716G>C | CA403137723 | PNPLA6 | c.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 |
19 | g.7560716G= | CA2320979339 | PNPLA6 | c.3768G= (p.Met1256=) c.3654G= (p.Met1218=) c.3798G= (p.Met1266=) c.3573G= (p.Met1191=) n.126G= c.186-298G= | |
19 | g.7560716G>T | CA10583869 | PNPLA6 | c.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 |
19 | g.7560717C>A | CA403137726 | PNPLA6 | c.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 | |
19 | g.7560717C>G | CA403137729 | PNPLA6 | c.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 | |
19 | g.7560717C>T | CA403137732 | PNPLA6 | c.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 | |
19 | g.7560718T>A | CA403137739 | PNPLA6 | c.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 | |
19 | g.7560718T>C | CA403137734 | PNPLA6 | c.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 | |
19 | g.7560718T>G | CA403137736 | PNPLA6 | c.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 | |
19 | g.7560719C>A | CA505245225 | PNPLA6 | c.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 | |
19 | g.7560719C= | CA2320979340 | PNPLA6 | c.3771C= (p.Leu1257=) c.3657C= (p.Leu1219=) c.3801C= (p.Leu1267=) c.3576C= (p.Leu1192=) n.129C= c.186-295C= | |
19 | g.7560719C>G | CA505245224 | PNPLA6 | c.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 | |
19 | g.7560719C>T | CA505245222 | PNPLA6 | c.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 |
19 | g.7560720A>C | CA403137742 | PNPLA6 | c.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 | |
19 | g.7560720A>G | CA403137744 | PNPLA6 | c.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 | |
19 | g.7560720A>T | CA403137747 | PNPLA6 | c.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 | |
19 | g.7560721C>A | CA403137749 | PNPLA6 | c.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 | |
19 | g.7560721C= | CA2320979341 | PNPLA6 | c.3773C= (p.Thr1258=) c.3659C= (p.Thr1220=) c.3803C= (p.Thr1268=) c.3578C= (p.Thr1193=) n.131C= c.186-293C= | |
19 | g.7560721C>G | CA403137752 | PNPLA6 | c.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 | |
19 | g.7560721C>T | CA9140572 | PNPLA6 | c.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 |
19 | g.7560722A>C | CA505245235 | PNPLA6 | c.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 | |
19 | g.7560722A>G | CA505245236 | PNPLA6 | c.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 | |
19 | g.7560722A>T | CA505245238 | PNPLA6 | c.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 | |
19 | g.7560723G>A | CA403137757 | PNPLA6 | c.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 |
19 | g.7560723G>C | CA403137759 | PNPLA6 | c.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 | |
19 | g.7560723G>T | CA403137764 | PNPLA6 | c.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 |
19 | g.7560724A= | CA2320979342 | PNPLA6 | c.3776A= (p.Asp1259=) c.3662A= (p.Asp1221=) c.3806A= (p.Asp1269=) c.3581A= (p.Asp1194=) n.134A= c.186-290A= | |
19 | g.7560724A>C | CA403137769 | PNPLA6 | c.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 |
19 | g.7560724A>G | CA403137771 | PNPLA6 | c.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 | |
19 | g.7560724A>T | CA403137772 | PNPLA6 | c.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 | |
19 | g.7560725C>A | CA403137773 | PNPLA6 | c.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 | |
19 | g.7560725C= | CA2320979343 | PNPLA6 | c.3777C= (p.Asp1259=) c.3663C= (p.Asp1221=) c.3807C= (p.Asp1269=) c.3582C= (p.Asp1194=) n.135C= c.186-289C= | |
19 | g.7560725C>G | CA403137774 | PNPLA6 | c.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 | |
19 | g.7560725C>T | CA9140573 | PNPLA6 | c.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 |
19 | g.7560726C>A | CA505245252 | PNPLA6 | c.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 | |
19 | g.7560726C= | CA2320979344 | PNPLA6 | c.3778C= (p.Arg1260=) c.3664C= (p.Arg1222=) c.3808C= (p.Arg1270=) c.3583C= (p.Arg1195=) n.136C= c.186-288C= | |
19 | g.7560726C>G | CA403137776 | PNPLA6 | c.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 | |
19 | g.7560726C>T | CA9140574 | PNPLA6 | c.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 |
19 | g.7560727G>A | CA9140575 | PNPLA6 | c.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 |
19 | g.7560727G>C | CA403137779 | PNPLA6 | c.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 |
19 | g.7560727G= | CA2320979345 | PNPLA6 | c.3779G= (p.Arg1260=) c.3665G= (p.Arg1222=) c.3809G= (p.Arg1270=) c.3584G= (p.Arg1195=) n.137G= c.186-287G= | |
19 | g.7560727G>T | CA403137782 | PNPLA6 | c.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 | |
19 | g.7560728G>A | CA505245261 | PNPLA6 | c.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 | |
19 | g.7560728G>C | CA505245263 | PNPLA6 | c.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 | |
19 | g.7560728G>T | CA505245264 | PNPLA6 | c.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 | |
19 | g.7560729C>A | CA505245268 | PNPLA6 | c.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 | |
19 | g.7560729C= | CA2320979346 | PNPLA6 | c.3781C= (p.Arg1261=) c.3667C= (p.Arg1223=) c.3811C= (p.Arg1271=) c.3586C= (p.Arg1196=) n.139C= c.186-285C= | |
19 | g.7560729C>G | CA403137786 | PNPLA6 | c.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 | |
19 | g.7560729C>T | CA9140576 | PNPLA6 | c.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 |
19 | g.7560730G>A | CA403137792 | PNPLA6 | c.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 |
19 | g.7560730G>C | CA403137794 | PNPLA6 | c.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 | |
19 | g.7560730G= | CA2320979347 | PNPLA6 | c.3782G= (p.Arg1261=) c.3668G= (p.Arg1223=) c.3812G= (p.Arg1271=) c.3587G= (p.Arg1196=) n.140G= c.186-284G= | |
19 | g.7560730G>T | CA403137798 | PNPLA6 | c.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 | |
19 | g.7560731G>A | CA505245275 | PNPLA6 | c.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 |
19 | g.7560731G>C | CA505245276 | PNPLA6 | c.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 | |
19 | g.7560731G= | CA2320979348 | PNPLA6 | c.3783G= (p.Arg1261=) c.3669G= (p.Arg1223=) c.3813G= (p.Arg1271=) c.3588G= (p.Arg1196=) n.141G= c.186-283G= | |
19 | g.7560731G>T | CA505245277 | PNPLA6 | c.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 |
19 | g.7560732T>A | CA403137801 | PNPLA6 | c.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 | |
19 | g.7560732T>C | CA403137803 | PNPLA6 | c.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 | |
19 | g.7560732T>G | CA403137806 | PNPLA6 | c.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 |
19 | g.7560732T= | CA2320979349 | PNPLA6 | c.3784T= (p.Ser1262=) c.3670T= (p.Ser1224=) c.3814T= (p.Ser1272=) c.3589T= (p.Ser1197=) n.142T= c.186-282T= | |
19 | g.7560733C>A | CA403137812 | PNPLA6 | c.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 | |
19 | g.7560733C>G | CA403137815 | PNPLA6 | c.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 | |
19 | g.7560733C>T | CA403137814 | PNPLA6 | c.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 | |
19 | g.7560734T>A | CA505245286 | PNPLA6 | c.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 | |
19 | g.7560734T>C | CA9140577 | PNPLA6 | c.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 |
19 | g.7560734T>G | CA505245289 | PNPLA6 | c.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 | |
19 | g.7560734T= | CA2320979350 | PNPLA6 | c.3786T= (p.Ser1262=) c.3672T= (p.Ser1224=) c.3816T= (p.Ser1272=) c.3591T= (p.Ser1197=) n.144T= c.186-280T= | |
19 | g.7560735A= | CA2320979351 | PNPLA6 | c.3787A= (p.Thr1263=) c.3673A= (p.Thr1225=) c.3817A= (p.Thr1273=) c.3592A= (p.Thr1198=) n.145A= c.186-279A= | |
19 | g.7560735A>C | CA403137833 | PNPLA6 | c.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 | |
19 | g.7560735A>G | CA403137834 | PNPLA6 | c.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 |
19 | g.7560735A>T | CA403137838 | PNPLA6 | c.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 | |
19 | g.7560736C>A | CA403137840 | PNPLA6 | c.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 | |
19 | g.7560736C>G | CA403137843 | PNPLA6 | c.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 | |
19 | g.7560736C>T | CA403137845 | PNPLA6 | c.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 |
19 | g.7560737A>C | CA505245298 | PNPLA6 | c.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 | |
19 | g.7560737A>G | CA505245299 | PNPLA6 | c.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 | |
19 | g.7560737A>T | CA505245301 | PNPLA6 | c.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 | |
19 | g.7560738G>A | CA403137846 | PNPLA6 | c.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 | |
19 | g.7560738G>C | CA403137847 | PNPLA6 | c.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 |
19 | g.7560738G>T | CA403137848 | PNPLA6 | c.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 | |
19 | g.7560739A= | CA2320979352 | PNPLA6 | c.3791A= (p.Asp1264=) c.3677A= (p.Asp1226=) c.3821A= (p.Asp1274=) c.3596A= (p.Asp1199=) n.149A= c.186-275A= | |
19 | g.7560739A>C | CA403137853 | PNPLA6 | c.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 |
19 | g.7560739A>G | CA403137851 | PNPLA6 | c.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 | |
19 | g.7560739A>T | CA403137849 | PNPLA6 | c.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 | |
19 | g.7560740C>A | CA403137856 | PNPLA6 | c.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 | |
19 | g.7560740C= | CA2320979353 | PNPLA6 | c.3792C= (p.Asp1264=) c.3678C= (p.Asp1226=) c.3822C= (p.Asp1274=) c.3597C= (p.Asp1199=) n.150C= c.186-274C= | |
19 | g.7560740C>G | CA403137859 | PNPLA6 | c.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 | |
19 | g.7560740C>T | CA505245310 | PNPLA6 | c.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 |
19 | g.7560741C>A | CA403137862 | PNPLA6 | c.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 |
19 | g.7560741C= | CA2320979354 | PNPLA6 | c.3793C= (p.Leu1265=) c.3679C= (p.Leu1227=) c.3823C= (p.Leu1275=) c.3598C= (p.Leu1200=) n.151C= c.186-273C= | |
19 | g.7560741C>G | CA403137865 | PNPLA6 | c.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 |
19 | g.7560741C>T | CA403137868 | PNPLA6 | c.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 |
19 | g.7560742T>A | CA403137871 | PNPLA6 | c.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 |
19 | g.7560742T>C | CA403137874 | PNPLA6 | c.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 | |
19 | g.7560742T>G | CA403137876 | PNPLA6 | c.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 | |
19 | g.7560743T>A | CA505245319 | PNPLA6 | c.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 | |
19 | g.7560743T>C | CA505245320 | PNPLA6 | c.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 | |
19 | g.7560743T>G | CA505245322 | PNPLA6 | c.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 | |
19 | g.7560744A>C | CA403137880 | PNPLA6 | c.3796A>C (p.Asn1266His) c.3682A>C (p.Asn1228His) c.3826A>C (p.Asn1276His) c.3601A>C (p.Asn1201His) n.154A>C c.186-270A>C | |
19 | g.7560744A>G | CA403137885 | PNPLA6 | c.3796A>G (p.Asn1266Asp) c.3682A>G (p.Asn1228Asp) c.3826A>G (p.Asn1276Asp) c.3601A>G (p.Asn1201Asp) n.154A>G c.186-270A>G | |
19 | g.7560744A>T | CA403137887 | PNPLA6 | c.3796A>T (p.Asn1266Tyr) c.3682A>T (p.Asn1228Tyr) c.3826A>T (p.Asn1276Tyr) c.3601A>T (p.Asn1201Tyr) n.154A>T c.186-270A>T | |
19 | g.7560745A= | CA2320979355 | PNPLA6 | c.3797A= (p.Asn1266=) c.3683A= (p.Asn1228=) c.3827A= (p.Asn1276=) c.3602A= (p.Asn1201=) n.155A= c.186-269A= | |
19 | g.7560745A>C | CA403137890 | PNPLA6 | c.3797A>C (p.Asn1266Thr) c.3683A>C (p.Asn1228Thr) c.3827A>C (p.Asn1276Thr) c.3602A>C (p.Asn1201Thr) n.155A>C c.186-269A>C | |
19 | g.7560745A>G | CA403137893 | PNPLA6 | c.3797A>G (p.Asn1266Ser) c.3683A>G (p.Asn1228Ser) c.3827A>G (p.Asn1276Ser) c.3602A>G (p.Asn1201Ser) n.155A>G c.186-269A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7560745A>T | CA403137896 | PNPLA6 | c.3797A>T (p.Asn1266Ile) c.3683A>T (p.Asn1228Ile) c.3827A>T (p.Asn1276Ile) c.3602A>T (p.Asn1201Ile) n.155A>T c.186-269A>T | |
19 | g.7560746T>A | CA403137904 | PNPLA6 | c.3798T>A (p.Asn1266Lys) c.3684T>A (p.Asn1228Lys) c.3828T>A (p.Asn1276Lys) c.3603T>A (p.Asn1201Lys) n.156T>A c.186-268T>A | |
19 | g.7560746T>C | CA9140578 | PNPLA6 | c.3798T>C (p.Asn1266=) c.3684T>C (p.Asn1228=) c.3828T>C (p.Asn1276=) c.3603T>C (p.Asn1201=) n.156T>C c.186-268T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7560746T>G | CA403137902 | PNPLA6 | c.3798T>G (p.Asn1266Lys) c.3684T>G (p.Asn1228Lys) c.3828T>G (p.Asn1276Lys) c.3603T>G (p.Asn1201Lys) n.156T>G c.186-268T>G | |
19 | g.7560746T= | CA2320979356 | PNPLA6 | c.3798T= (p.Asn1266=) c.3684T= (p.Asn1228=) c.3828T= (p.Asn1276=) c.3603T= (p.Asn1201=) n.156T= c.186-268T= | |
19 | g.7560747G>A | CA403137907 | PNPLA6 | c.3799G>A (p.Glu1267Lys) c.3685G>A (p.Glu1229Lys) c.3829G>A (p.Glu1277Lys) c.3604G>A (p.Glu1202Lys) n.157G>A c.186-267G>A | |
19 | g.7560747G>C | CA403137910 | PNPLA6 | c.3799G>C (p.Glu1267Gln) c.3685G>C (p.Glu1229Gln) c.3829G>C (p.Glu1277Gln) c.3604G>C (p.Glu1202Gln) n.157G>C c.186-267G>C | |
19 | g.7560747G>T | CA403137914 | PNPLA6 | c.3799G>T (p.Glu1267Ter) c.3685G>T (p.Glu1229Ter) c.3829G>T (p.Glu1277Ter) c.3604G>T (p.Glu1202Ter) n.157G>T c.186-267G>T | |
19 | g.7560748A>C | CA403137919 | PNPLA6 | c.3800A>C (p.Glu1267Ala) c.3686A>C (p.Glu1229Ala) c.3830A>C (p.Glu1277Ala) c.3605A>C (p.Glu1202Ala) n.158A>C c.186-266A>C | |
19 | g.7560748A>G | CA403137921 | PNPLA6 | c.3800A>G (p.Glu1267Gly) c.3686A>G (p.Glu1229Gly) c.3830A>G (p.Glu1277Gly) c.3605A>G (p.Glu1202Gly) n.158A>G c.186-266A>G | |
19 | g.7560748A>T | CA403137922 | PNPLA6 | c.3800A>T (p.Glu1267Val) c.3686A>T (p.Glu1229Val) c.3830A>T (p.Glu1277Val) c.3605A>T (p.Glu1202Val) n.158A>T c.186-266A>T | |
19 | g.7560749G>A | CA505245337 | PNPLA6 | c.3801G>A (p.Glu1267=) c.3687G>A (p.Glu1229=) c.3831G>A (p.Glu1277=) c.3606G>A (p.Glu1202=) n.159G>A c.186-265G>A | gnomAD v4 |
19 | g.7560749G>C | CA403137923 | PNPLA6 | c.3801G>C (p.Glu1267Asp) c.3687G>C (p.Glu1229Asp) c.3831G>C (p.Glu1277Asp) c.3606G>C (p.Glu1202Asp) n.159G>C c.186-265G>C | |
19 | g.7560749G>T | CA403137925 | PNPLA6 | c.3801G>T (p.Glu1267Asp) c.3687G>T (p.Glu1229Asp) c.3831G>T (p.Glu1277Asp) c.3606G>T (p.Glu1202Asp) n.159G>T c.186-265G>T | |
19 | g.7560750A>C | CA403137929 | PNPLA6 | c.3802A>C (p.Ser1268Arg) c.3688A>C (p.Ser1230Arg) c.3832A>C (p.Ser1278Arg) c.3607A>C (p.Ser1203Arg) n.160A>C c.186-264A>C | |
19 | g.7560750A>G | CA403137930 | PNPLA6 | c.3802A>G (p.Ser1268Gly) c.3688A>G (p.Ser1230Gly) c.3832A>G (p.Ser1278Gly) c.3607A>G (p.Ser1203Gly) n.160A>G c.186-264A>G | |
19 | g.7560750A>T | CA403137931 | PNPLA6 | c.3802A>T (p.Ser1268Cys) c.3688A>T (p.Ser1230Cys) c.3832A>T (p.Ser1278Cys) c.3607A>T (p.Ser1203Cys) n.160A>T c.186-264A>T | |
19 | g.7560751G>A | CA403137934 | PNPLA6 | c.3803G>A (p.Ser1268Asn) c.3689G>A (p.Ser1230Asn) c.3833G>A (p.Ser1278Asn) c.3608G>A (p.Ser1203Asn) n.161G>A c.186-263G>A | gnomAD v4 |
19 | g.7560751G>C | CA403137936 | PNPLA6 | c.3803G>C (p.Ser1268Thr) c.3689G>C (p.Ser1230Thr) c.3833G>C (p.Ser1278Thr) c.3608G>C (p.Ser1203Thr) n.161G>C c.186-263G>C | dbSNP |
19 | g.7560751G= | CA2320979357 | PNPLA6 | c.3803G= (p.Ser1268=) c.3689G= (p.Ser1230=) c.3833G= (p.Ser1278=) c.3608G= (p.Ser1203=) n.161G= c.186-263G= | |
19 | g.7560751G>T | CA403137932 | PNPLA6 | c.3803G>T (p.Ser1268Ile) c.3689G>T (p.Ser1230Ile) c.3833G>T (p.Ser1278Ile) c.3608G>T (p.Ser1203Ile) n.161G>T c.186-263G>T | gnomAD v4 |
19 | g.7560752C>A | CA403137941 | PNPLA6 | c.3804C>A (p.Ser1268Arg) c.3690C>A (p.Ser1230Arg) c.3834C>A (p.Ser1278Arg) c.3609C>A (p.Ser1203Arg) n.162C>A c.186-262C>A | gnomAD v4 |
19 | g.7560752C= | CA2320979358 | PNPLA6 | c.3804C= (p.Ser1268=) c.3690C= (p.Ser1230=) c.3834C= (p.Ser1278=) c.3609C= (p.Ser1203=) n.162C= c.186-262C= | |
19 | g.7560752C>G | CA403137943 | PNPLA6 | c.3804C>G (p.Ser1268Arg) c.3690C>G (p.Ser1230Arg) c.3834C>G (p.Ser1278Arg) c.3609C>G (p.Ser1203Arg) n.162C>G c.186-262C>G | gnomAD v4 |
19 | g.7560752C>T | CA505245349 | PNPLA6 | c.3804C>T (p.Ser1268=) c.3690C>T (p.Ser1230=) c.3834C>T (p.Ser1278=) c.3609C>T (p.Ser1203=) n.162C>T c.186-262C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.7560753C>A | CA403137946 | PNPLA6 | c.3805C>A (p.Arg1269Ser) c.3691C>A (p.Arg1231Ser) c.3835C>A (p.Arg1279Ser) c.3610C>A (p.Arg1204Ser) n.163C>A c.186-261C>A | gnomAD v4 |
19 | g.7560753C= | CA2320979359 | PNPLA6 | c.3805C= (p.Arg1269=) c.3691C= (p.Arg1231=) c.3835C= (p.Arg1279=) c.3610C= (p.Arg1204=) n.163C= c.186-261C= | |
19 | g.7560753C>G | CA403137951 | PNPLA6 | c.3805C>G (p.Arg1269Gly) c.3691C>G (p.Arg1231Gly) c.3835C>G (p.Arg1279Gly) c.3610C>G (p.Arg1204Gly) n.163C>G c.186-261C>G | gnomAD v4 |
19 | g.7560753C>T | CA403137954 | PNPLA6 | c.3805C>T (p.Arg1269Cys) c.3691C>T (p.Arg1231Cys) c.3835C>T (p.Arg1279Cys) c.3610C>T (p.Arg1204Cys) n.163C>T c.186-261C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7560754G>A | CA9140579 | PNPLA6 | c.3806G>A (p.Arg1269His) c.3692G>A (p.Arg1231His) c.3836G>A (p.Arg1279His) c.3611G>A (p.Arg1204His) n.164G>A c.186-260G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7560754G>C | CA403137961 | PNPLA6 | c.3806G>C (p.Arg1269Pro) c.3692G>C (p.Arg1231Pro) c.3836G>C (p.Arg1279Pro) c.3611G>C (p.Arg1204Pro) n.164G>C c.186-260G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7560754G= | CA2320979360 | PNPLA6 | c.3806G= (p.Arg1269=) c.3692G= (p.Arg1231=) c.3836G= (p.Arg1279=) c.3611G= (p.Arg1204=) n.164G= c.186-260G= | |
19 | g.7560754G>T | CA403137958 | PNPLA6 | c.3806G>T (p.Arg1269Leu) c.3692G>T (p.Arg1231Leu) c.3836G>T (p.Arg1279Leu) c.3611G>T (p.Arg1204Leu) n.164G>T c.186-260G>T | |
19 | g.7560755C>A | CA505245358 | PNPLA6 | c.3807C>A (p.Arg1269=) c.3693C>A (p.Arg1231=) c.3837C>A (p.Arg1279=) c.3612C>A (p.Arg1204=) n.165C>A c.186-259C>A | gnomAD v4 |
19 | g.7560755C= | CA2320979361 | PNPLA6 | c.3807C= (p.Arg1269=) c.3693C= (p.Arg1231=) c.3837C= (p.Arg1279=) c.3612C= (p.Arg1204=) n.165C= c.186-259C= | |
19 | g.7560755C>G | CA505245360 | PNPLA6 | c.3807C>G (p.Arg1269=) c.3693C>G (p.Arg1231=) c.3837C>G (p.Arg1279=) c.3612C>G (p.Arg1204=) n.165C>G c.186-259C>G | |
19 | g.7560755C>T | CA505245362 | PNPLA6 | c.3807C>T (p.Arg1269=) c.3693C>T (p.Arg1231=) c.3837C>T (p.Arg1279=) c.3612C>T (p.Arg1204=) n.165C>T c.186-259C>T | dbSNP |
19 | g.7560756C>A | CA403137962 | PNPLA6 | c.3808C>A (p.Arg1270Ser) c.3694C>A (p.Arg1232Ser) c.3838C>A (p.Arg1280Ser) c.3613C>A (p.Arg1205Ser) n.166C>A c.186-258C>A | |
19 | g.7560756C= | CA2320979362 | PNPLA6 | c.3808C= (p.Arg1270=) c.3694C= (p.Arg1232=) c.3838C= (p.Arg1280=) c.3613C= (p.Arg1205=) n.166C= c.186-258C= | |
19 | g.7560756C>G | CA403137963 | PNPLA6 | c.3808C>G (p.Arg1270Gly) c.3694C>G (p.Arg1232Gly) c.3838C>G (p.Arg1280Gly) c.3613C>G (p.Arg1205Gly) n.166C>G c.186-258C>G | |
19 | g.7560756C>T | CA304882920 | PNPLA6 | c.3808C>T (p.Arg1270Cys) c.3694C>T (p.Arg1232Cys) c.3838C>T (p.Arg1280Cys) c.3613C>T (p.Arg1205Cys) n.166C>T c.186-258C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7560757G>A | CA9140580 | PNPLA6 | c.3809G>A (p.Arg1270His) c.3695G>A (p.Arg1232His) c.3839G>A (p.Arg1280His) c.3614G>A (p.Arg1205His) n.167G>A c.186-257G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7560757G>C | CA403137966 | PNPLA6 | c.3809G>C (p.Arg1270Pro) c.3695G>C (p.Arg1232Pro) c.3839G>C (p.Arg1280Pro) c.3614G>C (p.Arg1205Pro) n.167G>C c.186-257G>C | |
19 | g.7560757G= | CA2320979363 | PNPLA6 | c.3809G= (p.Arg1270=) c.3695G= (p.Arg1232=) c.3839G= (p.Arg1280=) c.3614G= (p.Arg1205=) n.167G= c.186-257G= | |
19 | g.7560757G>T | CA403137968 | PNPLA6 | c.3809G>T (p.Arg1270Leu) c.3695G>T (p.Arg1232Leu) c.3839G>T (p.Arg1280Leu) c.3614G>T (p.Arg1205Leu) n.167G>T c.186-257G>T | dbSNP COSMIC COSMIC |
19 | g.7560758T>A | CA505245370 | PNPLA6 | c.3810T>A (p.Arg1270=) c.3696T>A (p.Arg1232=) c.3840T>A (p.Arg1280=) c.3615T>A (p.Arg1205=) n.168T>A c.186-256T>A | |
19 | g.7560758T>C | CA505245372 | PNPLA6 | c.3810T>C (p.Arg1270=) c.3696T>C (p.Arg1232=) c.3840T>C (p.Arg1280=) c.3615T>C (p.Arg1205=) n.168T>C c.186-256T>C | |
19 | g.7560758T>G | CA505245374 | PNPLA6 | c.3810T>G (p.Arg1270=) c.3696T>G (p.Arg1232=) c.3840T>G (p.Arg1280=) c.3615T>G (p.Arg1205=) n.168T>G c.186-256T>G | |
19 | g.7560759G>A | CA403137972 | PNPLA6 | c.3811G>A (p.Ala1271Thr) c.3697G>A (p.Ala1233Thr) c.3841G>A (p.Ala1281Thr) c.3616G>A (p.Ala1206Thr) n.169G>A c.186-255G>A | |
19 | g.7560759G>C | CA403137977 | PNPLA6 | c.3811G>C (p.Ala1271Pro) c.3697G>C (p.Ala1233Pro) c.3841G>C (p.Ala1281Pro) c.3616G>C (p.Ala1206Pro) n.169G>C c.186-255G>C | |
19 | g.7560759G>T | CA403137974 | PNPLA6 | c.3811G>T (p.Ala1271Ser) c.3697G>T (p.Ala1233Ser) c.3841G>T (p.Ala1281Ser) c.3616G>T (p.Ala1206Ser) n.169G>T c.186-255G>T | |
19 | g.7560760C>A | CA403137981 | PNPLA6 | c.3812C>A (p.Ala1271Glu) c.3698C>A (p.Ala1233Glu) c.3842C>A (p.Ala1281Glu) c.3617C>A (p.Ala1206Glu) n.170C>A c.186-254C>A | gnomAD v4 |
19 | g.7560760C= | CA2320979364 | PNPLA6 | c.3812C= (p.Ala1271=) c.3698C= (p.Ala1233=) c.3842C= (p.Ala1281=) c.3617C= (p.Ala1206=) n.170C= c.186-254C= | |
19 | g.7560760C>G | CA403137985 | PNPLA6 | c.3812C>G (p.Ala1271Gly) c.3698C>G (p.Ala1233Gly) c.3842C>G (p.Ala1281Gly) c.3617C>G (p.Ala1206Gly) n.170C>G c.186-254C>G | |
19 | g.7560760C>T | CA304882922 | PNPLA6 | c.3812C>T (p.Ala1271Val) c.3698C>T (p.Ala1233Val) c.3842C>T (p.Ala1281Val) c.3617C>T (p.Ala1206Val) n.170C>T c.186-254C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.7560761A= | CA2320979365 | PNPLA6 | c.3813A= (p.Ala1271=) c.3699A= (p.Ala1233=) c.3843A= (p.Ala1281=) c.3618A= (p.Ala1206=) n.171A= c.186-253A= | |
19 | g.7560761A>C | CA505245381 | PNPLA6 | c.3813A>C (p.Ala1271=) c.3699A>C (p.Ala1233=) c.3843A>C (p.Ala1281=) c.3618A>C (p.Ala1206=) n.171A>C c.186-253A>C | |
19 | g.7560761A>G | CA505245384 | PNPLA6 | c.3813A>G (p.Ala1271=) c.3699A>G (p.Ala1233=) c.3843A>G (p.Ala1281=) c.3618A>G (p.Ala1206=) n.171A>G c.186-253A>G | gnomAD v4 |
19 | g.7560761A>T | CA505245383 | PNPLA6 | c.3813A>T (p.Ala1271=) c.3699A>T (p.Ala1233=) c.3843A>T (p.Ala1281=) c.3618A>T (p.Ala1206=) n.171A>T c.186-253A>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7560762G>A | CA403138000 | PNPLA6 | c.3814G>A (p.Asp1272Asn) c.3700G>A (p.Asp1234Asn) c.3844G>A (p.Asp1282Asn) c.3619G>A (p.Asp1207Asn) n.172G>A c.186-252G>A | |
19 | g.7560762G>C | CA403138004 | PNPLA6 | c.3814G>C (p.Asp1272His) c.3700G>C (p.Asp1234His) c.3844G>C (p.Asp1282His) c.3619G>C (p.Asp1207His) n.172G>C c.186-252G>C | |
19 | g.7560762G>T | CA403138008 | PNPLA6 | c.3814G>T (p.Asp1272Tyr) c.3700G>T (p.Asp1234Tyr) c.3844G>T (p.Asp1282Tyr) c.3619G>T (p.Asp1207Tyr) n.172G>T c.186-252G>T | |
19 | g.7560763A>C | CA403138010 | PNPLA6 | c.3815A>C (p.Asp1272Ala) c.3701A>C (p.Asp1234Ala) c.3845A>C (p.Asp1282Ala) c.3620A>C (p.Asp1207Ala) n.173A>C c.186-251A>C | |
19 | g.7560763A>G | CA403138013 | PNPLA6 | c.3815A>G (p.Asp1272Gly) c.3701A>G (p.Asp1234Gly) c.3845A>G (p.Asp1282Gly) c.3620A>G (p.Asp1207Gly) n.173A>G c.186-251A>G | gnomAD v4 |
19 | g.7560763A>T | CA403138018 | PNPLA6 | c.3815A>T (p.Asp1272Val) c.3701A>T (p.Asp1234Val) c.3845A>T (p.Asp1282Val) c.3620A>T (p.Asp1207Val) n.173A>T c.186-251A>T | gnomAD v4 |
19 | g.7560764C>A | CA403138021 | PNPLA6 | c.3816C>A (p.Asp1272Glu) c.3702C>A (p.Asp1234Glu) c.3846C>A (p.Asp1282Glu) c.3621C>A (p.Asp1207Glu) n.174C>A c.186-250C>A | gnomAD v4 |
19 | g.7560764C= | CA2320979366 | PNPLA6 | c.3816C= (p.Asp1272=) c.3702C= (p.Asp1234=) c.3846C= (p.Asp1282=) c.3621C= (p.Asp1207=) n.174C= c.186-250C= | |
19 | g.7560764C>G | CA403138024 | PNPLA6 | c.3816C>G (p.Asp1272Glu) c.3702C>G (p.Asp1234Glu) c.3846C>G (p.Asp1282Glu) c.3621C>G (p.Asp1207Glu) n.174C>G c.186-250C>G | |
19 | g.7560764C>T | CA9140581 | PNPLA6 | c.3816C>T (p.Asp1272=) c.3702C>T (p.Asp1234=) c.3846C>T (p.Asp1282=) c.3621C>T (p.Asp1207=) n.174C>T c.186-250C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7560765G>A | CA403138038 | PNPLA6 | c.3816+1G>A (n.3816+1G>A) c.3702+1G>A (n.3702+1G>A) c.3846+1G>A (n.3846+1G>A) c.3621+1G>A (n.3621+1G>A) n.174+1G>A c.186-249G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7560765G>C | CA403138043 | PNPLA6 | c.3816+1G>C (n.3816+1G>C) c.3702+1G>C (n.3702+1G>C) c.3846+1G>C (n.3846+1G>C) c.3621+1G>C (n.3621+1G>C) n.174+1G>C c.186-249G>C | |
19 | g.7560765G= | CA2320979367 | PNPLA6 | c.3816+1G= (n.3816+1G=) c.3702+1G= (n.3702+1G=) c.3846+1G= (n.3846+1G=) c.3621+1G= (n.3621+1G=) n.174+1G= c.186-249G= | |
19 | g.7560765G>T | CA403138041 | PNPLA6 | c.3816+1G>T (n.3816+1G>T) c.3702+1G>T (n.3702+1G>T) c.3846+1G>T (n.3846+1G>T) c.3621+1G>T (n.3621+1G>T) n.174+1G>T c.186-249G>T | |
19 | g.7560766T>A | CA403138047 | PNPLA6 | c.3816+2T>A (n.3816+2T>A) c.3702+2T>A (n.3702+2T>A) c.3846+2T>A (n.3846+2T>A) c.3621+2T>A (n.3621+2T>A) n.174+2T>A c.186-248T>A | gnomAD v4 |
19 | g.7560766T>C | CA403138049 | PNPLA6 | c.3816+2T>C (n.3816+2T>C) c.3702+2T>C (n.3702+2T>C) c.3846+2T>C (n.3846+2T>C) c.3621+2T>C (n.3621+2T>C) n.174+2T>C c.186-248T>C | |
19 | g.7560766T>G | CA403138048 | PNPLA6 | c.3816+2T>G (n.3816+2T>G) c.3702+2T>G (n.3702+2T>G) c.3846+2T>G (n.3846+2T>G) c.3621+2T>G (n.3621+2T>G) n.174+2T>G c.186-248T>G | |
19 | g.7560768del | CA2587958184 | PNPLA6 | c.3816+4del (n.3816+4del) c.3702+4del (n.3702+4del) c.3846+4del (n.3846+4del) c.3621+4del (n.3621+4del) n.174+4del c.186-246del | gnomAD v4 |
19 | g.7560769G>A | CA631325769 | PNPLA6 | c.3816+5G>A (n.3816+5G>A) c.3702+5G>A (n.3702+5G>A) c.3846+5G>A (n.3846+5G>A) c.3621+5G>A (n.3621+5G>A) n.174+5G>A c.186-245G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.7560769G= | CA2320979368 | PNPLA6 | c.3816+5G= (n.3816+5G=) c.3702+5G= (n.3702+5G=) c.3846+5G= (n.3846+5G=) c.3621+5G= (n.3621+5G=) n.174+5G= c.186-245G= | |
19 | g.7560770C>A | CA2587958185 | PNPLA6 | c.3816+6C>A (n.3816+6C>A) c.3702+6C>A (n.3702+6C>A) c.3846+6C>A (n.3846+6C>A) c.3621+6C>A (n.3621+6C>A) n.174+6C>A c.186-244C>A | gnomAD v4 |
19 | g.7560770C>G | CA2587958187 | PNPLA6 | c.3816+6C>G (n.3816+6C>G) c.3702+6C>G (n.3702+6C>G) c.3846+6C>G (n.3846+6C>G) c.3621+6C>G (n.3621+6C>G) n.174+6C>G c.186-244C>G | gnomAD v4 |
19 | g.7560770C>T | CA2587958186 | PNPLA6 | c.3816+6C>T (n.3816+6C>T) c.3702+6C>T (n.3702+6C>T) c.3846+6C>T (n.3846+6C>T) c.3621+6C>T (n.3621+6C>T) n.174+6C>T c.186-244C>T | gnomAD v4 |
19 | g.7560771C>A | CA2587958188 | PNPLA6 | c.3816+7C>A (n.3816+7C>A) c.3702+7C>A (n.3702+7C>A) c.3846+7C>A (n.3846+7C>A) c.3621+7C>A (n.3621+7C>A) n.174+7C>A c.186-243C>A | gnomAD v4 |
19 | g.7560771C= | CA2320979369 | PNPLA6 | c.3816+7C= (n.3816+7C=) c.3702+7C= (n.3702+7C=) c.3846+7C= (n.3846+7C=) c.3621+7C= (n.3621+7C=) n.174+7C= c.186-243C= | |
19 | g.7560771C>T | CA2320979370 | PNPLA6 | c.3816+7C>T (n.3816+7C>T) c.3702+7C>T (n.3702+7C>T) c.3846+7C>T (n.3846+7C>T) c.3621+7C>T (n.3621+7C>T) n.174+7C>T c.186-243C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7560772T>A | CA2576598091 | PNPLA6 | c.3816+8T>A (n.3816+8T>A) c.3702+8T>A (n.3702+8T>A) c.3846+8T>A (n.3846+8T>A) c.3621+8T>A (n.3621+8T>A) n.174+8T>A c.186-242T>A | gnomAD v4 |
19 | g.7560772T>C | CA9140582 | PNPLA6 | c.3816+8T>C (n.3816+8T>C) c.3702+8T>C (n.3702+8T>C) c.3846+8T>C (n.3846+8T>C) c.3621+8T>C (n.3621+8T>C) n.174+8T>C c.186-242T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7560772T>G | CA304882927 | PNPLA6 | c.3816+8T>G (n.3816+8T>G) c.3702+8T>G (n.3702+8T>G) c.3846+8T>G (n.3846+8T>G) c.3621+8T>G (n.3621+8T>G) n.174+8T>G c.186-242T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7560772T= | CA2320979371 | PNPLA6 | c.3816+8T= (n.3816+8T=) c.3702+8T= (n.3702+8T=) c.3846+8T= (n.3846+8T=) c.3621+8T= (n.3621+8T=) n.174+8T= c.186-242T= | |
19 | g.7560773G= | CA2320979372 | PNPLA6 | c.3816+9G= (n.3816+9G=) c.3702+9G= (n.3702+9G=) c.3846+9G= (n.3846+9G=) c.3621+9G= (n.3621+9G=) n.174+9G= c.186-241G= | |
19 | g.7560773G>T | CA9140583 | PNPLA6 | c.3816+9G>T (n.3816+9G>T) c.3702+9G>T (n.3702+9G>T) c.3846+9G>T (n.3846+9G>T) c.3621+9G>T (n.3621+9G>T) n.174+9G>T c.186-241G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7560774T>A | CA2587958189 | PNPLA6 | c.3816+10T>A (n.3816+10T>A) c.3702+10T>A (n.3702+10T>A) c.3846+10T>A (n.3846+10T>A) c.3621+10T>A (n.3621+10T>A) n.174+10T>A c.186-240T>A | gnomAD v4 |
19 | g.7560774T>G | CA9140584 | PNPLA6 | c.3816+10T>G (n.3816+10T>G) c.3702+10T>G (n.3702+10T>G) c.3846+10T>G (n.3846+10T>G) c.3621+10T>G (n.3621+10T>G) n.174+10T>G c.186-240T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7560774T= | CA2320979373 | PNPLA6 | c.3816+10T= (n.3816+10T=) c.3702+10T= (n.3702+10T=) c.3846+10T= (n.3846+10T=) c.3621+10T= (n.3621+10T=) n.174+10T= c.186-240T= |