ClinVar Miner

List of variants studied for aortic aneurysm, familial thoracic 8 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 550
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HGVS dbSNP gnomAD frequency
NM_006258.4(PRKG1):c.312-35146C>T rs2879523 0.45456
NM_006258.4(PRKG1):c.763-44591A>G rs7083409 0.44235
NM_006258.4(PRKG1):c.479-9C>T rs45615337 0.08494
NM_006258.4(PRKG1):c.1008T>C (p.Phe336=) rs56047641 0.05131
NM_006258.4(PRKG1):c.845A>G (p.Asn282Ser) rs34997494 0.03846
NM_006258.4(PRKG1):c.888T>C (p.Leu296=) rs113994747 0.02057
NM_006258.4(PRKG1):c.408G>A (p.Pro136=) rs55806342 0.01754
NM_006258.4(PRKG1):c.1080T>C (p.Tyr360=) rs141218982 0.00519
NM_006258.4(PRKG1):c.426C>T (p.Asp142=) rs55754654 0.00439
NM_006258.4(PRKG1):c.906A>C (p.Gly302=) rs145917628 0.00185
NM_006258.4(PRKG1):c.1299C>T (p.Ser433=) rs145035655 0.00127
NM_006258.4(PRKG1):c.1525C>T (p.His509Tyr) rs139646798 0.00109
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199 0.00097
NM_006258.4(PRKG1):c.312-12C>G rs371409852 0.00086
NM_006258.4(PRKG1):c.1002-12T>C rs571503787 0.00053
NM_006258.4(PRKG1):c.1963-16T>G rs376174664 0.00052
NM_006258.4(PRKG1):c.675C>T (p.Thr225=) rs142166726 0.00050
NM_006258.4(PRKG1):c.1002-10C>T rs374171830 0.00031
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe) rs149710600 0.00027
NM_006258.4(PRKG1):c.840+14G>T rs146372571 0.00025
NM_006258.4(PRKG1):c.1002-9G>A rs200218082 0.00022
NM_006258.4(PRKG1):c.893C>T (p.Thr298Ile) rs140716870 0.00022
NM_006258.4(PRKG1):c.1290G>A (p.Gly430=) rs139494883 0.00021
NM_006258.4(PRKG1):c.810G>C (p.Gly270=) rs151055252 0.00016
NM_006258.4(PRKG1):c.1017G>A (p.Leu339=) rs187636159 0.00012
NM_006258.4(PRKG1):c.790A>G (p.Ile264Val) rs56082459 0.00012
NM_006258.4(PRKG1):c.1026G>A (p.Gly342=) rs374834674 0.00011
NM_006258.4(PRKG1):c.1662C>T (p.Ala554=) rs374202731 0.00011
NM_006258.4(PRKG1):c.2043A>T (p.Gly681=) rs146785168 0.00011
NM_006258.4(PRKG1):c.321T>C (p.Asp107=) rs201033058 0.00011
NM_006258.4(PRKG1):c.839C>T (p.Thr280Met) rs376134488 0.00011
NM_006258.4(PRKG1):c.15G>T (p.Arg5=) rs148780812 0.00010
NM_006258.4(PRKG1):c.1173+3A>G rs1405143204 0.00009
NM_006258.4(PRKG1):c.1174-9T>G rs372515971 0.00008
NM_006258.4(PRKG1):c.1710-4G>A rs374445349 0.00008
NM_006258.4(PRKG1):c.1092G>A (p.Ala364=) rs373675576 0.00007
NM_006258.4(PRKG1):c.63G>A (p.Arg21=) rs143805509 0.00007
NM_006258.4(PRKG1):c.980C>A (p.Thr327Asn) rs138485549 0.00007
NM_006258.4(PRKG1):c.1928G>A (p.Arg643Lys) rs770812712 0.00006
NM_006258.4(PRKG1):c.2014G>A (p.Asp672Asn) rs142375882 0.00006
NM_006258.4(PRKG1):c.30G>A (p.Ala10=) rs768867882 0.00006
NM_006258.4(PRKG1):c.375G>A (p.Ser125=) rs111805858 0.00006
NM_006258.4(PRKG1):c.1635C>T (p.Ile545=) rs562736939 0.00005
NM_006258.4(PRKG1):c.1867A>T (p.Asn623Tyr) rs201720423 0.00005
NM_006258.4(PRKG1):c.1173+8A>G rs202058118 0.00004
NM_006258.4(PRKG1):c.1228C>T (p.Arg410Cys) rs377519440 0.00004
NM_006258.4(PRKG1):c.123G>A (p.Lys41=) rs146681875 0.00004
NM_006258.4(PRKG1):c.1264C>T (p.Arg422Cys) rs147351459 0.00004
NM_006258.4(PRKG1):c.132C>T (p.Asn44=) rs139227021 0.00004
NM_006258.4(PRKG1):c.1423A>G (p.Thr475Ala) rs140630065 0.00004
NM_006258.4(PRKG1):c.1519C>T (p.Leu507=) rs1050128985 0.00004
NM_006258.4(PRKG1):c.1611A>C (p.Pro537=) rs370755321 0.00004
NM_006258.4(PRKG1):c.1709+17G>A rs757059653 0.00004
NM_006258.4(PRKG1):c.1710-20C>T rs370461631 0.00004
NM_006258.4(PRKG1):c.1988A>G (p.Asn663Ser) rs766915028 0.00004
NM_006258.4(PRKG1):c.2049T>C (p.Asp683=) rs771700923 0.00004
NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln) rs761759814 0.00004
NM_006258.4(PRKG1):c.570T>C (p.Cys190=) rs1277664864 0.00004
NM_006258.4(PRKG1):c.867G>A (p.Pro289=) rs150189667 0.00004
NM_006258.4(PRKG1):c.1102G>A (p.Ala368Thr) rs755634503 0.00003
NM_006258.4(PRKG1):c.1229G>A (p.Arg410His) rs201147665 0.00003
NM_006258.4(PRKG1):c.165A>T (p.Pro55=) rs761986596 0.00003
NM_006258.4(PRKG1):c.1832+5G>A rs752357283 0.00003
NM_006258.4(PRKG1):c.1845A>G (p.Ser615=) rs1177160264 0.00003
NM_006258.4(PRKG1):c.936-20T>C rs745724933 0.00003
NM_006258.4(PRKG1):c.951A>T (p.Thr317=) rs770604607 0.00003
NM_006258.4(PRKG1):c.1001+9A>G rs766890451 0.00002
NM_006258.4(PRKG1):c.1002-7C>G rs774905663 0.00002
NM_006258.4(PRKG1):c.1101C>T (p.Phe367=) rs752325371 0.00002
NM_006258.4(PRKG1):c.1315C>T (p.Leu439=) rs142314590 0.00002
NM_006258.4(PRKG1):c.1710-19G>A rs770131726 0.00002
NM_006258.4(PRKG1):c.1749C>T (p.Asn583=) rs765040798 0.00002
NM_006258.4(PRKG1):c.1962T>C (p.Ser654=) rs767330363 0.00002
NM_006258.4(PRKG1):c.2013C>T (p.Asn671=) rs373962932 0.00002
NM_006258.4(PRKG1):c.2042G>C (p.Gly681Ala) rs750949508 0.00002
NM_006258.4(PRKG1):c.237C>T (p.Ile79=) rs773472519 0.00002
NM_006258.4(PRKG1):c.299C>G (p.Pro100Arg) rs763629518 0.00002
NM_006258.4(PRKG1):c.311+15C>T rs764861976 0.00002
NM_006258.4(PRKG1):c.470T>C (p.Val157Ala) rs774143507 0.00002
NM_006258.4(PRKG1):c.478+4C>T rs753168304 0.00002
NM_006258.4(PRKG1):c.478+5G>A rs763059343 0.00002
NM_006258.4(PRKG1):c.582G>A (p.Ala194=) rs370511935 0.00002
NM_006258.4(PRKG1):c.586G>A (p.Val196Ile) rs777385159 0.00002
NM_006258.4(PRKG1):c.622G>A (p.Asp208Asn) rs760798881 0.00002
NM_006258.4(PRKG1):c.735C>G (p.Leu245=) rs761346689 0.00002
NM_006258.4(PRKG1):c.777T>C (p.Asn259=) rs774710312 0.00002
NM_006258.4(PRKG1):c.841-9T>C rs553608826 0.00002
NM_006258.4(PRKG1):c.869G>C (p.Ser290Thr) rs756427024 0.00002
NM_006258.4(PRKG1):c.939A>G (p.Glu313=) rs201105457 0.00002
NM_006258.4(PRKG1):c.1001+12G>A rs1057524395 0.00001
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser) rs775720873 0.00001
NM_006258.4(PRKG1):c.1031A>G (p.Asp344Gly) rs902336329 0.00001
NM_006258.4(PRKG1):c.1041T>C (p.Ser347=) rs540410515 0.00001
NM_006258.4(PRKG1):c.1073C>G (p.Ala358Gly) rs754567668 0.00001
NM_006258.4(PRKG1):c.1077-12C>A rs558904618 0.00001
NM_006258.4(PRKG1):c.1106A>G (p.Asn369Ser) rs775372704 0.00001
NM_006258.4(PRKG1):c.1114C>T (p.Leu372=) rs1286827784 0.00001
NM_006258.4(PRKG1):c.1143T>A (p.Leu381=) rs753459032 0.00001
NM_006258.4(PRKG1):c.1173+4G>A rs886039153 0.00001
NM_006258.4(PRKG1):c.1173+9T>C rs772605128 0.00001
NM_006258.4(PRKG1):c.1189G>A (p.Glu397Lys) rs773557548 0.00001
NM_006258.4(PRKG1):c.1202C>T (p.Thr401Met) rs1841726796 0.00001
NM_006258.4(PRKG1):c.1233C>T (p.His411=) rs760609014 0.00001
NM_006258.4(PRKG1):c.1300G>A (p.Asp434Asn) rs371044753 0.00001
NM_006258.4(PRKG1):c.1317G>A (p.Leu439=) rs757592722 0.00001
NM_006258.4(PRKG1):c.1338C>A (p.Ser446Arg) rs1368429980 0.00001
NM_006258.4(PRKG1):c.1377A>G (p.Gly459=) rs1468973561 0.00001
NM_006258.4(PRKG1):c.1391T>C (p.Ile464Thr) rs1008442154 0.00001
NM_006258.4(PRKG1):c.1428C>T (p.Thr476=) rs374020671 0.00001
NM_006258.4(PRKG1):c.1536T>C (p.Tyr512=) rs149159224 0.00001
NM_006258.4(PRKG1):c.1546-7T>C rs1436490223 0.00001
NM_006258.4(PRKG1):c.156G>A (p.Val52=) rs755664654 0.00001
NM_006258.4(PRKG1):c.1576T>C (p.Phe526Leu) rs74905373 0.00001
NM_006258.4(PRKG1):c.1617T>C (p.Tyr539=) rs1408876994 0.00001
NM_006258.4(PRKG1):c.1663G>A (p.Asp555Asn) rs773713867 0.00001
NM_006258.4(PRKG1):c.170C>T (p.Thr57Ile) rs758888287 0.00001
NM_006258.4(PRKG1):c.1710C>T (p.Ser570=) rs200610874 0.00001
NM_006258.4(PRKG1):c.1750A>G (p.Ile584Val) rs1842176037 0.00001
NM_006258.4(PRKG1):c.1811A>C (p.Asn604Thr) rs886039042 0.00001
NM_006258.4(PRKG1):c.1879G>T (p.Asp627Tyr) rs1428272946 0.00001
NM_006258.4(PRKG1):c.195G>A (p.Ala65=) rs1316840663 0.00001
NM_006258.4(PRKG1):c.1963-15G>A rs760233372 0.00001
NM_006258.4(PRKG1):c.1963-9T>G rs1842324375 0.00001
NM_006258.4(PRKG1):c.2016T>C (p.Asp672=) rs781473103 0.00001
NM_006258.4(PRKG1):c.2052A>G (p.Ile684Met) rs374752370 0.00001
NM_006258.4(PRKG1):c.2053G>C (p.Asp685His) rs1398800687 0.00001
NM_006258.4(PRKG1):c.243C>G (p.Ala81=) rs767315618 0.00001
NM_006258.4(PRKG1):c.27C>T (p.Tyr9=) rs777472224 0.00001
NM_006258.4(PRKG1):c.314C>T (p.Ser105Phe) rs1368918637 0.00001
NM_006258.4(PRKG1):c.36G>A (p.Gln12=) rs1360836398 0.00001
NM_006258.4(PRKG1):c.378G>C (p.Gln126His) rs749508576 0.00001
NM_006258.4(PRKG1):c.395A>G (p.Asp132Gly) rs140871298 0.00001
NM_006258.4(PRKG1):c.449A>C (p.Asp150Ala) rs775427696 0.00001
NM_006258.4(PRKG1):c.450C>T (p.Asp150=) rs368286950 0.00001
NM_006258.4(PRKG1):c.471C>G (p.Val157=) rs760020835 0.00001
NM_006258.4(PRKG1):c.478+10G>T rs763995628 0.00001
NM_006258.4(PRKG1):c.479-8C>T rs749159461 0.00001
NM_006258.4(PRKG1):c.486G>A (p.Lys162=) rs773961955 0.00001
NM_006258.4(PRKG1):c.585C>T (p.Thr195=) rs139104275 0.00001
NM_006258.4(PRKG1):c.619A>G (p.Ile207Val) rs1235083176 0.00001
NM_006258.4(PRKG1):c.630A>G (p.Gln210=) rs1345898109 0.00001
NM_006258.4(PRKG1):c.676G>A (p.Glu226Lys) rs751351827 0.00001
NM_006258.4(PRKG1):c.699-7T>C rs374748494 0.00001
NM_006258.4(PRKG1):c.75C>A (p.Ile25=) rs776048746 0.00001
NM_006258.4(PRKG1):c.763-8C>T rs777859336 0.00001
NM_006258.4(PRKG1):c.799G>A (p.Gly267Ser) rs747670757 0.00001
NM_006258.4(PRKG1):c.841-17A>G rs921467851 0.00001
NM_006258.4(PRKG1):c.861C>T (p.Asp287=) rs905594055 0.00001
NM_006258.4(PRKG1):c.935+5G>A rs80293383 0.00001
NM_006258.4(PRKG1):c.945G>A (p.Val315=) rs1299274042 0.00001
NM_006258.4(PRKG1):c.94T>C (p.Leu32=) rs777040411 0.00001
NM_006258.4(PRKG1):c.957C>T (p.Asn319=) rs949262667 0.00001
NC_000010.10:g.(?_52834351)_(53227616_?)dup
NC_000010.10:g.(?_53227463)_(53769653_?)dup
NC_000010.10:g.(?_53564335)_(53564460_?)del
NC_000010.10:g.(?_53564335)_(53667340_?)del
NC_000010.10:g.(?_53667247)_(53769653_?)del
NC_000010.10:g.(?_53814224)_(54053660_?)del
NC_000010.10:g.(?_53893580)_(53921743_?)dup
NC_000010.10:g.(?_53893590)_(53921733_?)dup
NC_000010.10:g.(?_54011320)_(54530789_?)dup
NC_000010.10:g.(?_54049964)_(54053660_?)del
NC_000010.10:g.(?_54053542)_(54053660_?)dup
NC_000010.11:g.(?_51074581)_(51074911_?)dup
NC_000010.11:g.(?_51907497)_(51907580_?)del
NC_000010.11:g.(?_52054474)_(52054571_?)del
NC_000010.11:g.(?_52161869)_(52161983_?)del
NM_006258.4(PRKG1):c.1000G>A (p.Asp334Asn) rs2132635326
NM_006258.4(PRKG1):c.1001+3A>G rs1409492576
NM_006258.4(PRKG1):c.1001+7A>G rs1364077283
NM_006258.4(PRKG1):c.1002-11dup
NM_006258.4(PRKG1):c.1002-20del
NM_006258.4(PRKG1):c.1023A>G (p.Gly341=) rs2132688551
NM_006258.4(PRKG1):c.1034A>C (p.Asp345Ala)
NM_006258.4(PRKG1):c.1046A>T (p.Lys349Ile)
NM_006258.4(PRKG1):c.1049C>G (p.Ala350Gly)
NM_006258.4(PRKG1):c.1050A>T (p.Ala350=)
NM_006258.4(PRKG1):c.1056A>G (p.Glu352=) rs1554811684
NM_006258.4(PRKG1):c.1065A>C (p.Glu355Asp) rs1564496116
NM_006258.4(PRKG1):c.1065A>G (p.Glu355=)
NM_006258.4(PRKG1):c.1067C>T (p.Ala356Val)
NM_006258.4(PRKG1):c.1070A>G (p.Lys357Arg)
NM_006258.4(PRKG1):c.1076+14_1076+15del
NM_006258.4(PRKG1):c.1076+15T>C
NM_006258.4(PRKG1):c.1076+15del rs780846305
NM_006258.4(PRKG1):c.1076+17_1076+18insGTTGGCC
NM_006258.4(PRKG1):c.1076+19_1076+20insTGGCCTT rs146504019
NM_006258.4(PRKG1):c.1076+9C>A
NM_006258.4(PRKG1):c.1077-17dup
NM_006258.4(PRKG1):c.1077-20T>C rs2132400566
NM_006258.4(PRKG1):c.1089A>C (p.Glu363Asp)
NM_006258.4(PRKG1):c.1091C>T (p.Ala364Val)
NM_006258.4(PRKG1):c.1094C>A (p.Ala365Asp)
NM_006258.4(PRKG1):c.1099T>C (p.Phe367Leu)
NM_006258.4(PRKG1):c.1102G>C (p.Ala368Pro)
NM_006258.4(PRKG1):c.1110G>C (p.Leu370=)
NM_006258.4(PRKG1):c.1119T>G (p.Ser373=)
NM_006258.4(PRKG1):c.111A>G (p.Glu37=)
NM_006258.4(PRKG1):c.1122T>C (p.Asp374=)
NM_006258.4(PRKG1):c.1128C>T (p.Asn376=) rs2132400725
NM_006258.4(PRKG1):c.1129A>G (p.Ile377Val)
NM_006258.4(PRKG1):c.1132A>G (p.Ile378Val)
NM_006258.4(PRKG1):c.113T>A (p.Leu38Gln)
NM_006258.4(PRKG1):c.1141C>G (p.Leu381Val)
NM_006258.4(PRKG1):c.1147G>A (p.Val383Ile)
NM_006258.4(PRKG1):c.114G>C (p.Leu38=) rs913151254
NM_006258.4(PRKG1):c.1152A>G (p.Gly384=)
NM_006258.4(PRKG1):c.1159G>A (p.Gly387Arg)
NM_006258.4(PRKG1):c.1161A>G (p.Gly387=)
NM_006258.4(PRKG1):c.1161A>T (p.Gly387=) rs2132400779
NM_006258.4(PRKG1):c.1162C>T (p.Arg388Ter)
NM_006258.4(PRKG1):c.1163G>A (p.Arg388Gln)
NM_006258.4(PRKG1):c.1166T>C (p.Val389Ala) rs572399173
NM_006258.4(PRKG1):c.1173+10T>C rs780532362
NM_006258.4(PRKG1):c.1173+12T>C
NM_006258.4(PRKG1):c.1173+14C>T
NM_006258.4(PRKG1):c.1173+14_1173+16del
NM_006258.4(PRKG1):c.1174-15C>T rs41280442
NM_006258.4(PRKG1):c.1174-16TC[2]
NM_006258.4(PRKG1):c.1174-7_1174-4del rs762325343
NM_006258.4(PRKG1):c.1174G>A (p.Val392Ile)
NM_006258.4(PRKG1):c.1187G>A (p.Ser396Asn)
NM_006258.4(PRKG1):c.1188T>C (p.Ser396=) rs2132432689
NM_006258.4(PRKG1):c.1218T>C (p.Ile406=) rs1211976786
NM_006258.4(PRKG1):c.1236T>C (p.Ile412=)
NM_006258.4(PRKG1):c.1266C>G (p.Arg422=)
NM_006258.4(PRKG1):c.1277A>G (p.Gln426Arg)
NM_006258.4(PRKG1):c.1299C>A (p.Ser433=)
NM_006258.4(PRKG1):c.129G>A (p.Gln43=)
NM_006258.4(PRKG1):c.1307T>C (p.Ile436Thr)
NM_006258.4(PRKG1):c.1313+10C>G
NM_006258.4(PRKG1):c.1313+13T>C
NM_006258.4(PRKG1):c.1313+5A>G
NM_006258.4(PRKG1):c.1313+7G>T rs1841729174
NM_006258.4(PRKG1):c.1314-8A>G rs2132434246
NM_006258.4(PRKG1):c.1314-9A>G rs1589750414
NM_006258.4(PRKG1):c.1318T>C (p.Tyr440His) rs1589750418
NM_006258.4(PRKG1):c.1332G>A (p.Lys444=) rs2132434278
NM_006258.4(PRKG1):c.135G>A (p.Glu45=)
NM_006258.4(PRKG1):c.1365T>C (p.Ala455=)
NM_006258.4(PRKG1):c.1378G>C (p.Glu460Gln)
NM_006258.4(PRKG1):c.1398G>A (p.Arg466=)
NM_006258.4(PRKG1):c.13C>A (p.Arg5=) rs752092723
NM_006258.4(PRKG1):c.1403+9T>C rs1841756154
NM_006258.4(PRKG1):c.1404-10T>G
NM_006258.4(PRKG1):c.1404-16C>A
NM_006258.4(PRKG1):c.1404-17C>A
NM_006258.4(PRKG1):c.1404-5C>T
NM_006258.4(PRKG1):c.1409C>T (p.Ser470Leu) rs267602521
NM_006258.4(PRKG1):c.1410G>A (p.Ser470=)
NM_006258.4(PRKG1):c.1419T>C (p.Asp473=) rs748812366
NM_006258.4(PRKG1):c.1450G>C (p.Val484Leu)
NM_006258.4(PRKG1):c.1466A>C (p.Tyr489Ser)
NM_006258.4(PRKG1):c.1466A>G (p.Tyr489Cys) rs149710600
NM_006258.4(PRKG1):c.1477A>G (p.Lys493Glu) rs2132447536
NM_006258.4(PRKG1):c.147C>T (p.Tyr49=) rs1843902455
NM_006258.4(PRKG1):c.1515C>T (p.Leu505=)
NM_006258.4(PRKG1):c.1518C>A (p.Ile506=) rs1462590792
NM_006258.4(PRKG1):c.1527C>T (p.His509=)
NM_006258.4(PRKG1):c.1528C>T (p.Arg510Ter) rs1564544146
NM_006258.4(PRKG1):c.1529G>A (p.Arg510Gln)
NM_006258.4(PRKG1):c.152C>T (p.Ser51Leu)
NM_006258.4(PRKG1):c.153G>C (p.Ser51=) rs1400601775
NM_006258.4(PRKG1):c.1545+17C>T
NM_006258.4(PRKG1):c.1545+18G>A
NM_006258.4(PRKG1):c.1545+20G>C
NM_006258.4(PRKG1):c.1546-11C>T
NM_006258.4(PRKG1):c.1546-15T>C
NM_006258.4(PRKG1):c.1546-7_1546-6del
NM_006258.4(PRKG1):c.1549G>A (p.Asp517Asn)
NM_006258.4(PRKG1):c.1569A>T (p.Lys523Asn)
NM_006258.4(PRKG1):c.1584G>A (p.Lys528=)
NM_006258.4(PRKG1):c.1588A>T (p.Thr530Ser)
NM_006258.4(PRKG1):c.1598T>C (p.Phe533Ser) rs1060501403
NM_006258.4(PRKG1):c.1599T>C (p.Phe533=)
NM_006258.4(PRKG1):c.1605G>A (p.Gly535=)
NM_006258.4(PRKG1):c.160C>G (p.Arg54Gly) rs1326285215
NM_006258.4(PRKG1):c.1613A>G (p.Glu538Gly) rs1842017438
NM_006258.4(PRKG1):c.162A>G (p.Arg54=) rs2132804433
NM_006258.4(PRKG1):c.1641C>T (p.Asn547=)
NM_006258.4(PRKG1):c.1642A>C (p.Lys548Gln)
NM_006258.4(PRKG1):c.1644A>G (p.Lys548=) rs200771178
NM_006258.4(PRKG1):c.1659A>T (p.Ser553=)
NM_006258.4(PRKG1):c.165A>C (p.Pro55=) rs761986596
NM_006258.4(PRKG1):c.1674A>C (p.Ser558=) rs1564544689
NM_006258.4(PRKG1):c.1676T>C (p.Leu559Pro)
NM_006258.4(PRKG1):c.168C>T (p.Ala56=)
NM_006258.4(PRKG1):c.1692T>C (p.Tyr564=) rs1192112763
NM_006258.4(PRKG1):c.1696C>T (p.Leu566Phe)
NM_006258.4(PRKG1):c.1709+18_1709+19delinsAC
NM_006258.4(PRKG1):c.1709+9A>G
NM_006258.4(PRKG1):c.1710-19G>C
NM_006258.4(PRKG1):c.1714C>A (p.Pro572Thr) rs1589761666
NM_006258.4(PRKG1):c.1719C>T (p.Phe573=) rs1589761680
NM_006258.4(PRKG1):c.171C>G (p.Thr57=) rs1278568068
NM_006258.4(PRKG1):c.1725C>A (p.Gly575=) rs75921640
NM_006258.4(PRKG1):c.1738A>G (p.Lys580Glu)
NM_006258.4(PRKG1):c.1740A>C (p.Lys580Asn) rs775721644
NM_006258.4(PRKG1):c.1745A>G (p.Tyr582Cys) rs2132460049
NM_006258.4(PRKG1):c.1746T>C (p.Tyr582=)
NM_006258.4(PRKG1):c.1758G>A (p.Leu586=)
NM_006258.4(PRKG1):c.1779A>G (p.Glu593=) rs1478526424
NM_006258.4(PRKG1):c.1787AGA[1] (p.Lys597del)
NM_006258.4(PRKG1):c.1788G>T (p.Lys596Asn)
NM_006258.4(PRKG1):c.1791G>A (p.Lys597=)
NM_006258.4(PRKG1):c.1801A>T (p.Asn601Tyr)
NM_006258.4(PRKG1):c.180G>A (p.Ala60=) rs756866692
NM_006258.4(PRKG1):c.1824A>G (p.Lys608=) rs1842177057
NM_006258.4(PRKG1):c.1824del (p.Lys608fs)
NM_006258.4(PRKG1):c.1832+11C>T
NM_006258.4(PRKG1):c.1832+14C>G
NM_006258.4(PRKG1):c.1832+3A>G rs780715198
NM_006258.4(PRKG1):c.1833-17C>A rs762828657
NM_006258.4(PRKG1):c.1858A>T (p.Asn620Tyr) rs2132460377
NM_006258.4(PRKG1):c.1864A>C (p.Lys622Gln) rs1842179456
NM_006258.4(PRKG1):c.1869T>C (p.Asn623=)
NM_006258.4(PRKG1):c.1877A>T (p.Lys626Ile)
NM_006258.4(PRKG1):c.1895+13T>C
NM_006258.4(PRKG1):c.1895+19G>A
NM_006258.4(PRKG1):c.1896-11del rs756748643
NM_006258.4(PRKG1):c.1896-11dup
NM_006258.4(PRKG1):c.1896-17G>A
NM_006258.4(PRKG1):c.1896-18C>T
NM_006258.4(PRKG1):c.1896-20_1896-18del
NM_006258.4(PRKG1):c.1896-9del rs780535098
NM_006258.4(PRKG1):c.1896A>G (p.Lys632=)
NM_006258.4(PRKG1):c.189G>A (p.Gln63=) rs2132804540
NM_006258.4(PRKG1):c.189G>C (p.Gln63His)
NM_006258.4(PRKG1):c.1908C>T (p.Gly636=)
NM_006258.4(PRKG1):c.191G>C (p.Ser64Thr) rs1843903927
NM_006258.4(PRKG1):c.1923C>T (p.Gly641=) rs749102311
NM_006258.4(PRKG1):c.1929A>G (p.Arg643=) rs1211745155
NM_006258.4(PRKG1):c.1934G>T (p.Gly645Val) rs2132462447
NM_006258.4(PRKG1):c.1936A>T (p.Thr646Ser) rs1057524623
NM_006258.4(PRKG1):c.1937C>T (p.Thr646Ile) rs1554824353
NM_006258.4(PRKG1):c.194C>A (p.Ala65Glu)
NM_006258.4(PRKG1):c.1960A>C (p.Ser654Arg)
NM_006258.4(PRKG1):c.1961G>C (p.Ser654Thr)
NM_006258.4(PRKG1):c.1962+13T>C
NM_006258.4(PRKG1):c.1962+18C>G
NM_006258.4(PRKG1):c.1962+20T>A
NM_006258.4(PRKG1):c.1962+9A>T
NM_006258.4(PRKG1):c.1963-10T>C rs2132469658
NM_006258.4(PRKG1):c.1963-12C>A
NM_006258.4(PRKG1):c.1963-13C>G
NM_006258.4(PRKG1):c.1963-5dup rs1377958548
NM_006258.4(PRKG1):c.1968A>G (p.Ala656=) rs564599393
NM_006258.4(PRKG1):c.197G>T (p.Ser66Ile) rs530013905
NM_006258.4(PRKG1):c.1995_1996del (p.Asp665fs)
NM_006258.4(PRKG1):c.1997G>A (p.Ser666Asn)
NM_006258.4(PRKG1):c.199A>T (p.Thr67Ser)
NM_006258.4(PRKG1):c.2001C>T (p.Phe667=)
NM_006258.4(PRKG1):c.2004T>G (p.Pro668=)
NM_006258.4(PRKG1):c.2007G>A (p.Glu669=)
NM_006258.4(PRKG1):c.2011_2013del (p.Asn671del) rs773730432
NM_006258.4(PRKG1):c.2026C>T (p.Pro676Ser)
NM_006258.4(PRKG1):c.202T>A (p.Leu68Met)
NM_006258.4(PRKG1):c.2037C>G (p.Asn679Lys)
NM_006258.4(PRKG1):c.2037C>T (p.Asn679=) rs1322320716
NM_006258.4(PRKG1):c.2041G>A (p.Gly681Arg)
NM_006258.4(PRKG1):c.2048A>T (p.Asp683Val) rs1564549596
NM_006258.4(PRKG1):c.2051T>C (p.Ile684Thr)
NM_006258.4(PRKG1):c.2054_*2dup (p.Asp685_Ter687=) rs1842327431
NM_006258.4(PRKG1):c.206A>C (p.Gln69Pro)
NM_006258.4(PRKG1):c.206A>G (p.Gln69Arg)
NM_006258.4(PRKG1):c.210C>G (p.Gly70=)
NM_006258.4(PRKG1):c.213G>A (p.Glu71=)
NM_006258.4(PRKG1):c.214C>A (p.Pro72Thr)
NM_006258.4(PRKG1):c.214C>G (p.Pro72Ala)
NM_006258.4(PRKG1):c.216G>A (p.Pro72=) rs2132804663
NM_006258.4(PRKG1):c.226C>A (p.Arg76=) rs919667557
NM_006258.4(PRKG1):c.227G>C (p.Arg76Pro)
NM_006258.4(PRKG1):c.228G>A (p.Arg76=)
NM_006258.4(PRKG1):c.230A>G (p.Gln77Arg) rs2132804699
NM_006258.4(PRKG1):c.232G>A (p.Ala78Thr) rs2132804704
NM_006258.4(PRKG1):c.240C>A (p.Ser80=)
NM_006258.4(PRKG1):c.240C>T (p.Ser80=)
NM_006258.4(PRKG1):c.24G>A (p.Gln8=)
NM_006258.4(PRKG1):c.252C>G (p.Thr84=)
NM_006258.4(PRKG1):c.252C>T (p.Thr84=) rs1325628462
NM_006258.4(PRKG1):c.254C>T (p.Ala85Val)
NM_006258.4(PRKG1):c.261C>T (p.Asp87=) rs760561584
NM_006258.4(PRKG1):c.269A>T (p.Asp90Val)
NM_006258.4(PRKG1):c.282G>A (p.Val94=)
NM_006258.4(PRKG1):c.284C>T (p.Thr95Ile)
NM_006258.4(PRKG1):c.304A>G (p.Ser102Gly)
NM_006258.4(PRKG1):c.306C>G (p.Ser102Arg)
NM_006258.4(PRKG1):c.307C>T (p.Pro103Ser)
NM_006258.4(PRKG1):c.30G>T (p.Ala10=)
NM_006258.4(PRKG1):c.311+10G>C
NM_006258.4(PRKG1):c.311+11G>A
NM_006258.4(PRKG1):c.311+15C>G
NM_006258.4(PRKG1):c.311+8G>A
NM_006258.4(PRKG1):c.312-13T>C
NM_006258.4(PRKG1):c.319G>A (p.Asp107Asn) rs751916382
NM_006258.4(PRKG1):c.319G>C (p.Asp107His) rs751916382
NM_006258.4(PRKG1):c.31C>T (p.Leu11Phe)
NM_006258.4(PRKG1):c.33C>T (p.Leu11=)
NM_006258.4(PRKG1):c.372G>A (p.Leu124=)
NM_006258.4(PRKG1):c.375G>T (p.Ser125=) rs111805858
NM_006258.4(PRKG1):c.398G>A (p.Cys133Tyr)
NM_006258.4(PRKG1):c.39G>A (p.Glu13=) rs878854901
NM_006258.4(PRKG1):c.406C>T (p.Pro136Ser)
NM_006258.4(PRKG1):c.407C>T (p.Pro136Leu) rs1157867791
NM_006258.4(PRKG1):c.408G>T (p.Pro136=)
NM_006258.4(PRKG1):c.410T>C (p.Val137Ala)
NM_006258.4(PRKG1):c.420C>G (p.Gly140=)
NM_006258.4(PRKG1):c.431G>A (p.Cys144Tyr) rs1474737976
NM_006258.4(PRKG1):c.431G>C (p.Cys144Ser)
NM_006258.4(PRKG1):c.432C>T (p.Cys144=) rs2131975482
NM_006258.4(PRKG1):c.444_449dup (p.Glu148_Gly149dup) rs1589198305
NM_006258.4(PRKG1):c.44T>A (p.Ile15Asn)
NM_006258.4(PRKG1):c.459A>G (p.Ser153=) rs2131975529
NM_006258.4(PRKG1):c.460C>T (p.Leu154=) rs1487309461
NM_006258.4(PRKG1):c.461T>C (p.Leu154Pro) rs1846124871
NM_006258.4(PRKG1):c.462G>A (p.Leu154=)
NM_006258.4(PRKG1):c.46G>C (p.Glu16Gln)
NM_006258.4(PRKG1):c.478+14C>A
NM_006258.4(PRKG1):c.478+19A>G
NM_006258.4(PRKG1):c.478+7T>C rs2131975566
NM_006258.4(PRKG1):c.479-12C>T
NM_006258.4(PRKG1):c.479-14C>T
NM_006258.4(PRKG1):c.489T>C (p.Val163=)
NM_006258.4(PRKG1):c.502G>C (p.Glu168Gln)
NM_006258.4(PRKG1):c.505G>A (p.Gly169Ser)
NM_006258.4(PRKG1):c.508G>A (p.Val170Met)
NM_006258.4(PRKG1):c.51G>A (p.Glu17=) rs2132803988
NM_006258.4(PRKG1):c.522C>T (p.Thr174=) rs369697050
NM_006258.4(PRKG1):c.525G>A (p.Met175Ile)
NM_006258.4(PRKG1):c.526G>A (p.Gly176Ser)
NM_006258.4(PRKG1):c.52C>T (p.Leu18=) rs1459600632
NM_006258.4(PRKG1):c.534A>T (p.Gly178=)
NM_006258.4(PRKG1):c.539T>C (p.Val180Ala) rs1406292952
NM_006258.4(PRKG1):c.546G>A (p.Gly182=) rs73336216
NM_006258.4(PRKG1):c.546G>T (p.Gly182=) rs73336216
NM_006258.4(PRKG1):c.55A>C (p.Arg19=)
NM_006258.4(PRKG1):c.564C>T (p.Tyr188=) rs765303337
NM_006258.4(PRKG1):c.568T>C (p.Cys190Arg) rs1554812441
NM_006258.4(PRKG1):c.573C>T (p.Thr191=)
NM_006258.4(PRKG1):c.575G>A (p.Arg192Gln) rs397515330
NM_006258.4(PRKG1):c.576G>A (p.Arg192=)
NM_006258.4(PRKG1):c.58C>T (p.Gln20Ter)
NM_006258.4(PRKG1):c.592+12T>G
NM_006258.4(PRKG1):c.592+19T>A
NM_006258.4(PRKG1):c.592+19T>G
NM_006258.4(PRKG1):c.592+7C>A rs2132814984
NM_006258.4(PRKG1):c.593-17C>G
NM_006258.4(PRKG1):c.593-19C>T
NM_006258.4(PRKG1):c.593-2A>C
NM_006258.4(PRKG1):c.593-8T>C
NM_006258.4(PRKG1):c.595C>A (p.Leu199Ile)
NM_006258.4(PRKG1):c.600A>C (p.Val200=) rs2132611180
NM_006258.4(PRKG1):c.600A>G (p.Val200=)
NM_006258.4(PRKG1):c.614G>C (p.Trp205Ser)
NM_006258.4(PRKG1):c.61C>G (p.Arg21Gly)
NM_006258.4(PRKG1):c.620T>C (p.Ile207Thr)
NM_006258.4(PRKG1):c.633T>C (p.Cys211=) rs2132611264
NM_006258.4(PRKG1):c.642A>C (p.Thr214=) rs370640208
NM_006258.4(PRKG1):c.642A>G (p.Thr214=) rs370640208
NM_006258.4(PRKG1):c.643A>G (p.Ile215Val)
NM_006258.4(PRKG1):c.645A>T (p.Ile215=)
NM_006258.4(PRKG1):c.648G>C (p.Met216Ile)
NM_006258.4(PRKG1):c.648del (p.Met216fs)
NM_006258.4(PRKG1):c.652A>C (p.Arg218=) rs2132611314
NM_006258.4(PRKG1):c.665T>A (p.Ile222Asn)
NM_006258.4(PRKG1):c.675C>G (p.Thr225=) rs142166726
NM_006258.4(PRKG1):c.683T>C (p.Met228Thr) rs1468952215
NM_006258.4(PRKG1):c.698+13C>A
NM_006258.4(PRKG1):c.698+18C>T
NM_006258.4(PRKG1):c.698+3A>G
NM_006258.4(PRKG1):c.698+4G>A rs374166820
NM_006258.4(PRKG1):c.699-17T>G
NM_006258.4(PRKG1):c.699-1G>A
NM_006258.4(PRKG1):c.69T>G (p.Ala23=) rs1277215606
NM_006258.4(PRKG1):c.700G>A (p.Val234Ile)
NM_006258.4(PRKG1):c.700G>T (p.Val234Phe)
NM_006258.4(PRKG1):c.711C>A (p.Phe237Leu) rs1029991615
NM_006258.4(PRKG1):c.711C>T (p.Phe237=) rs1029991615
NM_006258.4(PRKG1):c.712C>A (p.Gln238Lys) rs987666890
NM_006258.4(PRKG1):c.714G>T (p.Gln238His)
NM_006258.4(PRKG1):c.721C>T (p.Pro241Ser)
NM_006258.4(PRKG1):c.723T>C (p.Pro241=)
NM_006258.4(PRKG1):c.729G>A (p.Glu243=)
NM_006258.4(PRKG1):c.72C>G (p.Leu24=) rs1589133691
NM_006258.4(PRKG1):c.732C>T (p.Ile244=)
NM_006258.4(PRKG1):c.735C>T (p.Leu245=)
NM_006258.4(PRKG1):c.762+20G>A
NM_006258.4(PRKG1):c.762+3A>C
NM_006258.4(PRKG1):c.762+8T>C rs1589410271
NM_006258.4(PRKG1):c.763-15G>T rs1904010
NM_006258.4(PRKG1):c.763-20T>G
NM_006258.4(PRKG1):c.763-44591A>T
NM_006258.4(PRKG1):c.763-5T>G
NM_006258.4(PRKG1):c.765C>G (p.Thr255=)
NM_006258.4(PRKG1):c.766C>T (p.His256Tyr)
NM_006258.4(PRKG1):c.768C>T (p.His256=) rs2133254561
NM_006258.4(PRKG1):c.771T>C (p.Tyr257=) rs2133254575
NM_006258.4(PRKG1):c.782A>C (p.Glu261Ala) rs2133254613
NM_006258.4(PRKG1):c.784T>C (p.Tyr262His)
NM_006258.4(PRKG1):c.785A>T (p.Tyr262Phe) rs2133254634
NM_006258.4(PRKG1):c.786T>C (p.Tyr262=)
NM_006258.4(PRKG1):c.789T>C (p.Ile263=) rs1242584792
NM_006258.4(PRKG1):c.791T>A (p.Ile264Asn) rs1846063656
NM_006258.4(PRKG1):c.795_796delinsAA (p.Gln266Lys) rs2133254668
NM_006258.4(PRKG1):c.79G>C (p.Glu27Gln) rs1843900542
NM_006258.4(PRKG1):c.805A>G (p.Arg269Gly) rs1846064148
NM_006258.4(PRKG1):c.810G>A (p.Gly270=) rs151055252
NM_006258.4(PRKG1):c.815C>A (p.Thr272Asn) rs2133254714
NM_006258.4(PRKG1):c.819C>T (p.Phe273=)
NM_006258.4(PRKG1):c.81G>A (p.Glu27=)
NM_006258.4(PRKG1):c.820T>C (p.Phe274Leu) rs1554797637
NM_006258.4(PRKG1):c.831C>T (p.Ser277=)
NM_006258.4(PRKG1):c.834A>G (p.Lys278=)
NM_006258.4(PRKG1):c.834A>T (p.Lys278Asn)
NM_006258.4(PRKG1):c.840+14G>A
NM_006258.4(PRKG1):c.840+17C>T
NM_006258.4(PRKG1):c.840+19A>C
NM_006258.4(PRKG1):c.840+3A>G
NM_006258.4(PRKG1):c.840+5G>T rs1064796485
NM_006258.4(PRKG1):c.840+6C>G rs2133254762
NM_006258.4(PRKG1):c.840G>A (p.Thr280=)
NM_006258.4(PRKG1):c.841-16T>C
NM_006258.4(PRKG1):c.841-20T>C
NM_006258.4(PRKG1):c.841-20T>G
NM_006258.4(PRKG1):c.841-3C>A
NM_006258.4(PRKG1):c.841-5T>G rs1254124867
NM_006258.4(PRKG1):c.846T>C (p.Asn282=)
NM_006258.4(PRKG1):c.853C>T (p.Arg285Cys)
NM_006258.4(PRKG1):c.85G>C (p.Glu29Gln)
NM_006258.4(PRKG1):c.881T>A (p.Val294Asp) rs757416473
NM_006258.4(PRKG1):c.881T>G (p.Val294Gly)
NM_006258.4(PRKG1):c.900A>C (p.Gly300=)
NM_006258.4(PRKG1):c.904G>T (p.Gly302Ter)
NM_006258.4(PRKG1):c.905G>A (p.Gly302Glu)
NM_006258.4(PRKG1):c.90G>A (p.Leu30=)
NM_006258.4(PRKG1):c.910T>A (p.Trp304Arg)
NM_006258.4(PRKG1):c.924A>G (p.Lys308=)
NM_006258.4(PRKG1):c.930G>T (p.Leu310Phe) rs1564452654
NM_006258.4(PRKG1):c.933G>A (p.Gln311=)
NM_006258.4(PRKG1):c.935+11C>A
NM_006258.4(PRKG1):c.935+13T>C
NM_006258.4(PRKG1):c.935+6T>C
NM_006258.4(PRKG1):c.935+7A>T
NM_006258.4(PRKG1):c.936-3T>C
NM_006258.4(PRKG1):c.936-4A>T
NM_006258.4(PRKG1):c.958G>A (p.Val320Ile) rs768491086
NM_006258.4(PRKG1):c.958G>C (p.Val320Leu)
NM_006258.4(PRKG1):c.982T>A (p.Cys328Ser)
NM_006258.4(PRKG1):c.994G>C (p.Asp332His) rs2132635323
NM_006258.4(PRKG1):c.99T>C (p.Asp33=) rs1589133712

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