NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe)
|
rs149710600
|
0.00027
|
NM_006258.4(PRKG1):c.790A>G (p.Ile264Val)
|
rs56082459
|
0.00012
|
NM_006258.4(PRKG1):c.839C>T (p.Thr280Met)
|
rs376134488
|
0.00011
|
NM_006258.4(PRKG1):c.1173+3A>G
|
rs1405143204
|
0.00009
|
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.1867A>T (p.Asn623Tyr)
|
rs201720423
|
0.00005
|
NM_006258.4(PRKG1):c.1228C>T (p.Arg410Cys)
|
rs377519440
|
0.00004
|
NM_006258.4(PRKG1):c.1264C>T (p.Arg422Cys)
|
rs147351459
|
0.00004
|
NM_006258.4(PRKG1):c.1423A>G (p.Thr475Ala)
|
rs140630065
|
0.00004
|
NM_006258.4(PRKG1):c.1988A>G (p.Asn663Ser)
|
rs766915028
|
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.1832+5G>A
|
rs752357283
|
0.00003
|
NM_006258.4(PRKG1):c.1962T>C (p.Ser654=)
|
rs767330363
|
0.00002
|
NM_006258.4(PRKG1):c.2042G>C (p.Gly681Ala)
|
rs750949508
|
0.00002
|
NM_006258.4(PRKG1):c.299C>G (p.Pro100Arg)
|
rs763629518
|
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.586G>A (p.Val196Ile)
|
rs777385159
|
0.00002
|
NM_006258.4(PRKG1):c.622G>A (p.Asp208Asn)
|
rs760798881
|
0.00002
|
NM_006258.4(PRKG1):c.869G>C (p.Ser290Thr)
|
rs756427024
|
0.00002
|
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.1073C>G (p.Ala358Gly)
|
rs754567668
|
0.00001
|
NM_006258.4(PRKG1):c.1106A>G (p.Asn369Ser)
|
rs775372704
|
0.00001
|
NM_006258.4(PRKG1):c.1173+4G>A
|
rs886039153
|
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.1300G>A (p.Asp434Asn)
|
rs371044753
|
0.00001
|
NM_006258.4(PRKG1):c.1338C>A (p.Ser446Arg)
|
rs1368429980
|
0.00001
|
NM_006258.4(PRKG1):c.1391T>C (p.Ile464Thr)
|
rs1008442154
|
0.00001
|
NM_006258.4(PRKG1):c.1576T>C (p.Phe526Leu)
|
rs74905373
|
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.1811A>C (p.Asn604Thr)
|
rs886039042
|
0.00001
|
NM_006258.4(PRKG1):c.1879G>T (p.Asp627Tyr)
|
rs1428272946
|
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.314C>T (p.Ser105Phe)
|
rs1368918637
|
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.619A>G (p.Ile207Val)
|
rs1235083176
|
0.00001
|
NM_006258.4(PRKG1):c.630A>G (p.Gln210=)
|
rs1345898109
|
0.00001
|
NM_006258.4(PRKG1):c.799G>A (p.Gly267Ser)
|
rs747670757
|
0.00001
|
NM_006258.4(PRKG1):c.935+5G>A
|
rs80293383
|
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.1034A>C (p.Asp345Ala)
|
|
|
NM_006258.4(PRKG1):c.1049C>G (p.Ala350Gly)
|
|
|
NM_006258.4(PRKG1):c.1065A>C (p.Glu355Asp)
|
rs1564496116
|
|
NM_006258.4(PRKG1):c.1067C>T (p.Ala356Val)
|
|
|
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.113T>A (p.Leu38Gln)
|
|
|
NM_006258.4(PRKG1):c.1141C>G (p.Leu381Val)
|
|
|
NM_006258.4(PRKG1):c.1159G>A (p.Gly387Arg)
|
|
|
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.1174G>A (p.Val392Ile)
|
|
|
NM_006258.4(PRKG1):c.1187G>A (p.Ser396Asn)
|
|
|
NM_006258.4(PRKG1):c.1277A>G (p.Gln426Arg)
|
|
|
NM_006258.4(PRKG1):c.1314-8A>G
|
rs2132434246
|
|
NM_006258.4(PRKG1):c.1318T>C (p.Tyr440His)
|
rs1589750418
|
|
NM_006258.4(PRKG1):c.1409C>T (p.Ser470Leu)
|
rs267602521
|
|
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.1528C>T (p.Arg510Ter)
|
rs1564544146
|
|
NM_006258.4(PRKG1):c.1529G>A (p.Arg510Gln)
|
|
|
NM_006258.4(PRKG1):c.1588A>T (p.Thr530Ser)
|
|
|
NM_006258.4(PRKG1):c.1598T>C (p.Phe533Ser)
|
rs1060501403
|
|
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.1642A>C (p.Lys548Gln)
|
|
|
NM_006258.4(PRKG1):c.1696C>T (p.Leu566Phe)
|
|
|
NM_006258.4(PRKG1):c.1714C>A (p.Pro572Thr)
|
rs1589761666
|
|
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.1788G>T (p.Lys596Asn)
|
|
|
NM_006258.4(PRKG1):c.1801A>T (p.Asn601Tyr)
|
|
|
NM_006258.4(PRKG1):c.1824del (p.Lys608fs)
|
|
|
NM_006258.4(PRKG1):c.1832+3A>G
|
rs780715198
|
|
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.1896A>G (p.Lys632=)
|
|
|
NM_006258.4(PRKG1):c.189G>C (p.Gln63His)
|
|
|
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.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.1997G>A (p.Ser666Asn)
|
|
|
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.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.214C>A (p.Pro72Thr)
|
|
|
NM_006258.4(PRKG1):c.214C>G (p.Pro72Ala)
|
|
|
NM_006258.4(PRKG1):c.227G>C (p.Arg76Pro)
|
|
|
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.254C>T (p.Ala85Val)
|
|
|
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.311+15C>G
|
|
|
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.406C>T (p.Pro136Ser)
|
|
|
NM_006258.4(PRKG1):c.407C>T (p.Pro136Leu)
|
rs1157867791
|
|
NM_006258.4(PRKG1):c.410T>C (p.Val137Ala)
|
|
|
NM_006258.4(PRKG1):c.431G>A (p.Cys144Tyr)
|
rs1474737976
|
|
NM_006258.4(PRKG1):c.431G>C (p.Cys144Ser)
|
|
|
NM_006258.4(PRKG1):c.444_449dup (p.Glu148_Gly149dup)
|
rs1589198305
|
|
NM_006258.4(PRKG1):c.461T>C (p.Leu154Pro)
|
rs1846124871
|
|
NM_006258.4(PRKG1):c.505G>A (p.Gly169Ser)
|
|
|
NM_006258.4(PRKG1):c.508G>A (p.Val170Met)
|
|
|
NM_006258.4(PRKG1):c.525G>A (p.Met175Ile)
|
|
|
NM_006258.4(PRKG1):c.526G>A (p.Gly176Ser)
|
|
|
NM_006258.4(PRKG1):c.539T>C (p.Val180Ala)
|
rs1406292952
|
|
NM_006258.4(PRKG1):c.546G>T (p.Gly182=)
|
rs73336216
|
|
NM_006258.4(PRKG1):c.58C>T (p.Gln20Ter)
|
|
|
NM_006258.4(PRKG1):c.593-2A>C
|
|
|
NM_006258.4(PRKG1):c.614G>C (p.Trp205Ser)
|
|
|
NM_006258.4(PRKG1):c.61C>G (p.Arg21Gly)
|
|
|
NM_006258.4(PRKG1):c.643A>G (p.Ile215Val)
|
|
|
NM_006258.4(PRKG1):c.648G>C (p.Met216Ile)
|
|
|
NM_006258.4(PRKG1):c.665T>A (p.Ile222Asn)
|
|
|
NM_006258.4(PRKG1):c.683T>C (p.Met228Thr)
|
rs1468952215
|
|
NM_006258.4(PRKG1):c.698+3A>G
|
|
|
NM_006258.4(PRKG1):c.698+4G>A
|
rs374166820
|
|
NM_006258.4(PRKG1):c.699-1G>A
|
|
|
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.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.762+3A>C
|
|
|
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.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.820T>C (p.Phe274Leu)
|
rs1554797637
|
|
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.841-3C>A
|
|
|
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.905G>A (p.Gly302Glu)
|
|
|
NM_006258.4(PRKG1):c.910T>A (p.Trp304Arg)
|
|
|
NM_006258.4(PRKG1):c.930G>T (p.Leu310Phe)
|
rs1564452654
|
|
NM_006258.4(PRKG1):c.936-3T>C
|
|
|
NM_006258.4(PRKG1):c.958G>A (p.Val320Ile)
|
rs768491086
|
|
NM_006258.4(PRKG1):c.982T>A (p.Cys328Ser)
|
|
|
NM_006258.4(PRKG1):c.994G>C (p.Asp332His)
|
rs2132635323
|
|