NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)
|
rs121434410
|
0.00009
|
NR_104387.1(TAF1):n.5894C>T
|
rs397509359
|
0.00009
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter)
|
rs201378067
|
0.00005
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe)
|
rs752452731
|
0.00003
|
NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu)
|
rs267607069
|
0.00001
|
NM_001044.5(SLC6A3):c.1269+1G>A
|
rs431905504
|
0.00001
|
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp)
|
rs431905516
|
0.00001
|
NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter)
|
rs121908492
|
0.00001
|
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter)
|
rs121908490
|
0.00001
|
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer)
|
rs794727794
|
0.00001
|
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)
|
rs267607061
|
0.00001
|
NM_015488.5(PNKD):c.97G>C (p.Ala33Pro)
|
rs121434513
|
0.00001
|
NM_145239.3(PRRT2):c.1011C>T (p.Gly337=)
|
rs745970212
|
0.00001
|
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)
|
rs886042013
|
0.00001
|
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp)
|
rs387907128
|
0.00001
|
NM_145239.3(PRRT2):c.880-34G>A
|
rs1239450803
|
0.00001
|
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg)
|
rs767799831
|
0.00001
|
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)
|
rs1301400509
|
0.00001
|
GRCh37/hg19 16p11.2(chr16:29495011-30206548)
|
|
|
GRCh37/hg19 7q21.3(chr7:93516132-95668733)
|
|
|
NC_000005.9:g.(?_1253823)_(1448148_?)del
|
|
|
NC_000005.9:g.(?_218471)_(1895829_?)del
|
|
|
NC_000007.13:g.(?_94228081)_(94232770_?)del
|
|
|
NC_000007.13:g.(?_94232582)_(94232784_?)del
|
|
|
NC_000007.13:g.(?_94248050)_(94248288_?)del
|
|
|
NC_000007.13:g.(?_94248050)_(94252729_?)del
|
|
|
NC_000007.13:g.(?_94252617)_(94252729_?)del
|
|
|
NC_000007.13:g.(?_94252627)_(94252719_?)del
|
|
|
NC_000007.13:g.(?_94257494)_(94285410_?)del
|
|
|
NC_000007.13:g.(?_94285282)_(94285410_?)del
|
|
|
NC_000007.14:g.(?_94395012)_(94656118_?)del
|
|
|
NC_000007.14:g.(?_94598775)_(94603452_?)del
|
|
|
NC_000007.14:g.(?_94628182)_(94628379_?)del
|
|
|
NC_000016.10:g.(?_29813035)_(29814658_?)del
|
|
|
NC_000016.10:g.(?_29813045)_(29814648_?)del
|
|
|
NC_000016.10:g.(?_29813055)_(29904965_?)del
|
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)del
|
|
|
NC_000016.9:g.(?_29802081)_(30200285_?)del
|
|
|
NC_000016.9:g.(?_29824744)_(29826559_?)del
|
|
|
NC_000016.9:g.(?_29825262)_(29830230_?)del
|
|
|
NC_000016.9:g.(?_29825620)_(29825969_?)del
|
|
|
NC_000019.10:g.(?_41968775)_(41970552_?)del
|
|
|
NC_000019.9:g.(?_42471089)_(42486278_?)del
|
|
|
NC_000019.9:g.(?_42479761)_(42492734_?)del
|
|
|
NC_000019.9:g.(?_42489050)_(42490401_?)del
|
|
|
NG_050658.1:g.(5235_69181)_(69440_100126)del
|
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys)
|
rs28942103
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
NM_001044.5(SLC6A3):c.1031+1G>A
|
rs431905514
|
|
NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln)
|
rs267607068
|
|
NM_001044.5(SLC6A3):c.1569_1592delinsA (p.Cys523_Phe531delinsTer)
|
|
|
NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro)
|
rs431905515
|
|
NM_001044.5(SLC6A3):c.892del (p.Tyr297_Leu298insTer)
|
rs1756409749
|
|
NM_001282684.2(KCTD17):c.413G>A (p.Arg138His)
|
rs786205860
|
|
NM_001282684.2(KCTD17):c.547dup (p.Val183fs)
|
|
|
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu)
|
rs1392638187
|
|
NM_003054.6(SLC18A2):c.216dup (p.Asp73fs)
|
|
|
NM_003054.6(SLC18A2):c.240_244del (p.Ser80_Tyr81insTer)
|
|
|
NM_003054.6(SLC18A2):c.33G>A (p.Trp11Ter)
|
rs2133723906
|
|
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)
|
rs767337086
|
|
NM_003054.6(SLC18A2):c.946C>G (p.Pro316Ala)
|
rs1589981178
|
|
NM_003690.5(PRKRA):c.267_268del (p.His89fs)
|
rs730880307
|
|
NM_003919.2(SGCE):c.464_662del
|
|
|
NM_003919.3(SGCE):c.1011del (p.Ala336_Tyr337insTer)
|
rs2116693521
|
|
NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter)
|
|
|
NM_003919.3(SGCE):c.1042_1043del (p.Lys348fs)
|
|
|
NM_003919.3(SGCE):c.1058_1062del (p.Thr353fs)
|
|
|
NM_003919.3(SGCE):c.109+1G>A
|
rs1808615750
|
|
NM_003919.3(SGCE):c.109+2T>C
|
rs2117137466
|
|
NM_003919.3(SGCE):c.1151del (p.Leu384fs)
|
|
|
NM_003919.3(SGCE):c.1208_1209del (p.Thr403fs)
|
|
|
NM_003919.3(SGCE):c.1210_1213del (p.Asp404fs)
|
rs886039595
|
|
NM_003919.3(SGCE):c.1296dup (p.Gly433fs)
|
rs2116568066
|
|
NM_003919.3(SGCE):c.129_130delinsT (p.Lys43fs)
|
rs1804394258
|
|
NM_003919.3(SGCE):c.153C>G (p.Tyr51Ter)
|
rs2116972912
|
|
NM_003919.3(SGCE):c.158C>A (p.Ser53Ter)
|
|
|
NM_003919.3(SGCE):c.191_197dup (p.Tyr66Ter)
|
rs2116972508
|
|
NM_003919.3(SGCE):c.193_194del (p.Glu65fs)
|
rs2116972578
|
|
NM_003919.3(SGCE):c.232+1G>C
|
|
|
NM_003919.3(SGCE):c.232+1G>T
|
rs1057517990
|
|
NM_003919.3(SGCE):c.235G>T (p.Glu79Ter)
|
|
|
NM_003919.3(SGCE):c.252_253del (p.Ile85fs)
|
|
|
NM_003919.3(SGCE):c.272T>G (p.Leu91Ter)
|
|
|
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)
|
rs121908489
|
|
NM_003919.3(SGCE):c.300del (p.Trp100fs)
|
rs1554358727
|
|
NM_003919.3(SGCE):c.314A>G (p.Gln105Arg)
|
rs1584692239
|
|
NM_003919.3(SGCE):c.321del (p.Pro108fs)
|
rs2116959244
|
|
NM_003919.3(SGCE):c.344A>G (p.Tyr115Cys)
|
rs2116958989
|
|
NM_003919.3(SGCE):c.353dup (p.Thr119fs)
|
|
|
NM_003919.3(SGCE):c.37_38insA (p.Cys13Ter)
|
rs766778442
|
|
NM_003919.3(SGCE):c.391-1G>A
|
rs1803142505
|
|
NM_003919.3(SGCE):c.391-1G>T
|
|
|
NM_003919.3(SGCE):c.391-82_405del
|
|
|
NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter)
|
rs1554355416
|
|
NM_003919.3(SGCE):c.444_447del (p.Ile148_Asn149insTer)
|
rs1584663425
|
|
NM_003919.3(SGCE):c.448_452del (p.Ile150fs)
|
rs2116918021
|
|
NM_003919.3(SGCE):c.463+1G>A
|
rs1584663290
|
|
NM_003919.3(SGCE):c.463+2T>A
|
rs2116917821
|
|
NM_003919.3(SGCE):c.470del (p.Pro157fs)
|
rs1554353106
|
|
NM_003919.3(SGCE):c.483del (p.Ala162fs)
|
|
|
NM_003919.3(SGCE):c.495_498del (p.Phe165fs)
|
rs2116882526
|
|
NM_003919.3(SGCE):c.521del (p.Met174fs)
|
rs2116882157
|
|
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro)
|
rs1064794321
|
|
NM_003919.3(SGCE):c.559del (p.Ala186_Val187insTer)
|
rs1554352906
|
|
NM_003919.3(SGCE):c.571_572del (p.Trp191fs)
|
rs2116881558
|
|
NM_003919.3(SGCE):c.579del (p.Glu194fs)
|
|
|
NM_003919.3(SGCE):c.580del (p.Glu194fs)
|
rs2116881481
|
|
NM_003919.3(SGCE):c.587T>G (p.Leu196Arg)
|
rs121908491
|
|
NM_003919.3(SGCE):c.604dup (p.Thr202fs)
|
rs2116881189
|
|
NM_003919.3(SGCE):c.610del (p.Ala204fs)
|
rs1584637958
|
|
NM_003919.3(SGCE):c.619_620del (p.Arg207fs)
|
rs863223285
|
|
NM_003919.3(SGCE):c.619del (p.Arg207fs)
|
rs1554352819
|
|
NM_003919.3(SGCE):c.623_650del (p.Gly208fs)
|
rs2116880618
|
|
NM_003919.3(SGCE):c.639dup (p.Pro214fs)
|
|
|
NM_003919.3(SGCE):c.658del (p.Glu220fs)
|
rs2116880537
|
|
NM_003919.3(SGCE):c.662G>T (p.Gly221Val)
|
rs2116880447
|
|
NM_003919.3(SGCE):c.663-2A>T
|
rs2116724997
|
|
NM_003919.3(SGCE):c.663-6109_825+550del
|
|
|
NM_003919.3(SGCE):c.663del (p.Val222fs)
|
rs1562812370
|
|
NM_003919.3(SGCE):c.667del (p.Tyr223fs)
|
rs1057519246
|
|
NM_003919.3(SGCE):c.703dup (p.Cys235fs)
|
|
|
NM_003919.3(SGCE):c.704_707del (p.Cys235fs)
|
rs2116724268
|
|
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter)
|
rs398123812
|
|
NM_003919.3(SGCE):c.723_724dup (p.Pro242fs)
|
rs2116723835
|
|
NM_003919.3(SGCE):c.727C>T (p.Gln243Ter)
|
rs1554345170
|
|
NM_003919.3(SGCE):c.733C>T (p.Gln245Ter)
|
rs1554345162
|
|
NM_003919.3(SGCE):c.734_737del (p.Gln245fs)
|
|
|
NM_003919.3(SGCE):c.742dup (p.Cys248fs)
|
|
|
NM_003919.3(SGCE):c.751G>T (p.Glu251Ter)
|
rs2116723386
|
|
NM_003919.3(SGCE):c.774_775del (p.Cys258_Asp259delinsTer)
|
|
|
NM_003919.3(SGCE):c.778A>T (p.Lys260Ter)
|
|
|
NM_003919.3(SGCE):c.783dup (p.Phe262fs)
|
rs1189469219
|
|
NM_003919.3(SGCE):c.786del (p.Arg263fs)
|
rs1584546238
|
|
NM_003919.3(SGCE):c.793C>T (p.Gln265Ter)
|
rs1584546131
|
|
NM_003919.3(SGCE):c.795del (p.Gln265fs)
|
rs1554345077
|
|
NM_003919.3(SGCE):c.799del (p.Tyr267fs)
|
rs1799563986
|
|
NM_003919.3(SGCE):c.802dup (p.Ile268fs)
|
rs2116722561
|
|
NM_003919.3(SGCE):c.809G>A (p.Trp270Ter)
|
|
|
NM_003919.3(SGCE):c.810G>A (p.Trp270Ter)
|
rs1562811414
|
|
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr)
|
rs372686312
|
|
NM_003919.3(SGCE):c.813C>A (p.Cys271Ter)
|
rs2116722345
|
|
NM_003919.3(SGCE):c.825+1G>T
|
|
|
NM_003919.3(SGCE):c.825+1_825+2del
|
rs1554345052
|
|
NM_003919.3(SGCE):c.835_839del (p.Thr279fs)
|
rs863223283
|
|
NM_003919.3(SGCE):c.841C>T (p.Gln281Ter)
|
rs1562806242
|
|
NM_003919.3(SGCE):c.850del (p.Thr284fs)
|
rs2116695873
|
|
NM_003919.3(SGCE):c.865_866insGCAGGAAGTGA (p.Ile289delinsSerArgLysTer)
|
rs2116695697
|
|
NM_003919.3(SGCE):c.880dup (p.Ile294fs)
|
rs1562805960
|
|
NM_003919.3(SGCE):c.884dup (p.Leu295fs)
|
rs863223284
|
|
NM_003919.3(SGCE):c.895G>T (p.Gly299Ter)
|
rs765792098
|
|
NM_003919.3(SGCE):c.896dup (p.Glu300fs)
|
|
|
NM_003919.3(SGCE):c.898_899del (p.Glu300fs)
|
|
|
NM_003919.3(SGCE):c.898_925del (p.Glu300fs)
|
|
|
NM_003919.3(SGCE):c.903C>A (p.Tyr301Ter)
|
rs1322313531
|
|
NM_003919.3(SGCE):c.904_908dup (p.Pro304fs)
|
rs2116694965
|
|
NM_003919.3(SGCE):c.942C>A (p.Tyr314Ter)
|
rs2116694543
|
|
NM_003919.3(SGCE):c.942C>G (p.Tyr314Ter)
|
rs2116694543
|
|
NM_003919.3(SGCE):c.946del (p.Asp316fs)
|
|
|
NM_003919.3(SGCE):c.974del (p.Ser325fs)
|
rs1584531843
|
|
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)
|
rs80359812
|
|
NM_006516.4(SLC2A1):c.101A>T (p.Asn34Ile)
|
rs80359812
|
|
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs)
|
rs1643457017
|
|
NM_006516.4(SLC2A1):c.1043_1044insT (p.Ile349fs)
|
rs2124447951
|
|
NM_006516.4(SLC2A1):c.1135_1147del (p.Phe379fs)
|
rs2124446490
|
|
NM_006516.4(SLC2A1):c.1141del (p.Val381fs)
|
|
|
NM_006516.4(SLC2A1):c.115-2A>C
|
rs2124450950
|
|
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys)
|
rs796053263
|
|
NM_006516.4(SLC2A1):c.1206_1215dup (p.Val406fs)
|
rs2124446305
|
|
NM_006516.4(SLC2A1):c.1287_1288del (p.Cys429fs)
|
rs2124445661
|
|
NM_006516.4(SLC2A1):c.161dup (p.Ser55fs)
|
|
|
NM_006516.4(SLC2A1):c.16A>T (p.Lys6Ter)
|
|
|
NM_006516.4(SLC2A1):c.19-2A>G
|
rs796053272
|
|
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val)
|
rs2124478725
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.283_284delinsAT (p.Ser95Ile)
|
rs267607060
|
|
NM_006516.4(SLC2A1):c.293del (p.Met98fs)
|
rs1643481831
|
|
NM_006516.4(SLC2A1):c.29del (p.Gly10fs)
|
rs2124461926
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006516.4(SLC2A1):c.37dup (p.Met13fs)
|
rs2124461913
|
|
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile)
|
rs1057520545
|
|
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del)
|
rs80359832
|
|
NM_006516.4(SLC2A1):c.524G>T (p.Gly175Val)
|
rs2124449452
|
|
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys)
|
rs387907312
|
|
NM_006516.4(SLC2A1):c.635del (p.Arg212fs)
|
rs2124449287
|
|
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)
|
rs796053248
|
|
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)
|
rs794729221
|
|
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)
|
rs1570592604
|
|
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter)
|
rs2124449015
|
|
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)
|
rs121909740
|
|
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)
|
rs2124448824
|
|
NM_006516.4(SLC2A1):c.844_855del (p.Gln282_Ser285del)
|
rs1553156047
|
|
NM_006516.4(SLC2A1):c.876_878dup (p.Tyr293_Ser294insTyr)
|
rs2124448406
|
|
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
|
rs121909739
|
|
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=)
|
rs796053254
|
|
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
|
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)
|
rs1553155986
|
|
NM_015488.5(PNKD):c.20C>T (p.Ala7Val)
|
rs121434512
|
|
NM_015488.5(PNKD):c.26C>T (p.Ala9Val)
|
rs121434511
|
|
NM_015836.4(WARS2):c.149G>A (p.Gly50Asp)
|
rs1571323203
|
|
NM_015836.4(WARS2):c.295CTT[1] (p.Leu100del)
|
rs772867219
|
|
NM_015836.4(WARS2):c.622G>T (p.Glu208Ter)
|
rs137890886
|
|
NM_015836.4(WARS2):c.683C>G (p.Ser228Trp)
|
rs1647600390
|
|
NM_145239.3(PRRT2):c.1007del (p.Asn335_Leu336insTer)
|
|
|
NM_145239.3(PRRT2):c.1021T>C (p.Ter341Arg)
|
rs1403034524
|
|
NM_145239.3(PRRT2):c.106del (p.Gln36fs)
|
rs1596889984
|
|
NM_145239.3(PRRT2):c.121del (p.Val41fs)
|
|
|
NM_145239.3(PRRT2):c.189del (p.Lys64fs)
|
rs1900067836
|
|
NM_145239.3(PRRT2):c.210_211del (p.Glu70fs)
|
rs886041579
|
|
NM_145239.3(PRRT2):c.224dup (p.Ala76fs)
|
rs2142423194
|
|
NM_145239.3(PRRT2):c.268dup (p.Ser90fs)
|
rs2142423439
|
|
NM_145239.3(PRRT2):c.27dup (p.Glu10Ter)
|
rs1900057283
|
|
NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs)
|
rs1900074141
|
|
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)
|
|
|
NM_145239.3(PRRT2):c.284C>G (p.Ser95Ter)
|
|
|
NM_145239.3(PRRT2):c.298del (p.Ser100fs)
|
|
|
NM_145239.3(PRRT2):c.303del (p.Glu102fs)
|
rs1596890692
|
|
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs)
|
rs886041327
|
|
NM_145239.3(PRRT2):c.347_348del (p.Lys116fs)
|
|
|
NM_145239.3(PRRT2):c.407_408del (p.Pro136fs)
|
|
|
NM_145239.3(PRRT2):c.422_432dup (p.Arg145fs)
|
|
|
NM_145239.3(PRRT2):c.449dup (p.Thr151fs)
|
rs1900085480
|
|
NM_145239.3(PRRT2):c.456del (p.Lys153fs)
|
|
|
NM_145239.3(PRRT2):c.469C>T (p.Gln157Ter)
|
|
|
NM_145239.3(PRRT2):c.483_487dup (p.Gln163fs)
|
|
|
NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter)
|
rs387907127
|
|
NM_145239.3(PRRT2):c.49_50del (p.Pro18fs)
|
|
|
NM_145239.3(PRRT2):c.503del (p.Pro168fs)
|
rs2142424961
|
|
NM_145239.3(PRRT2):c.514_517del (p.Ser172fs)
|
rs730882065
|
|
NM_145239.3(PRRT2):c.516dup (p.Glu173Ter)
|
rs730882068
|
|
NM_145239.3(PRRT2):c.520_521del (p.Ser174fs)
|
|
|
NM_145239.3(PRRT2):c.535C>T (p.Gln179Ter)
|
rs2142425167
|
|
NM_145239.3(PRRT2):c.535_538del (p.Gln179fs)
|
rs1555502708
|
|
NM_145239.3(PRRT2):c.543_544del (p.Asn181fs)
|
rs2142425196
|
|
NM_145239.3(PRRT2):c.547dup (p.Ala183fs)
|
|
|
NM_145239.3(PRRT2):c.55A>T (p.Lys19Ter)
|
|
|
NM_145239.3(PRRT2):c.562C>T (p.Gln188Ter)
|
rs397514578
|
|
NM_145239.3(PRRT2):c.579dup (p.Glu194fs)
|
rs1900093244
|
|
NM_145239.3(PRRT2):c.593_594del (p.Pro198fs)
|
rs1260966131
|
|
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs)
|
rs1064793851
|
|
NM_145239.3(PRRT2):c.629del (p.Pro210fs)
|
rs730882067
|
|
NM_145239.3(PRRT2):c.629dup (p.Ala211fs)
|
rs730882067
|
|
NM_145239.3(PRRT2):c.639_640insC (p.Ala214fs)
|
rs2142425874
|
|
NM_145239.3(PRRT2):c.640dup (p.Ala214fs)
|
|
|
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)
|
rs77838305
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_145239.3(PRRT2):c.653_660dup (p.Gln221fs)
|
rs1900100925
|
|
NM_145239.3(PRRT2):c.658C>T (p.Gln220Ter)
|
rs1217390170
|
|
NM_145239.3(PRRT2):c.661C>T (p.Gln221Ter)
|
rs1567379819
|
|
NM_145239.3(PRRT2):c.679C>T (p.Arg227Ter)
|
|
|
NM_145239.3(PRRT2):c.697_698del (p.Ser233fs)
|
rs1596892401
|
|
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)
|
rs387907126
|
|
NM_145239.3(PRRT2):c.739_740delinsG (p.Pro247fs)
|
|
|
NM_145239.3(PRRT2):c.741del (p.Ser248fs)
|
|
|
NM_145239.3(PRRT2):c.742del (p.Ser248fs)
|
rs2142426594
|
|
NM_145239.3(PRRT2):c.742dup (p.Ser248fs)
|
rs1596892633
|
|
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)
|
rs397514579
|
|
NM_145239.3(PRRT2):c.769_778del (p.Glu257fs)
|
rs886041960
|
|
NM_145239.3(PRRT2):c.776del (p.Gly259fs)
|
rs1900111672
|
|
NM_145239.3(PRRT2):c.776dup (p.Gly259_Glu260insTer)
|
rs1900111672
|
|
NM_145239.3(PRRT2):c.787C>T (p.Gln263Ter)
|
|
|
NM_145239.3(PRRT2):c.799del (p.Asp267fs)
|
rs1567380076
|
|
NM_145239.3(PRRT2):c.834C>A (p.Cys278Ter)
|
rs758654999
|
|
NM_145239.3(PRRT2):c.842G>A (p.Trp281Ter)
|
rs2142427166
|
|
NM_145239.3(PRRT2):c.843G>A (p.Trp281Ter)
|
rs1596893055
|
|
NM_145239.3(PRRT2):c.848_863del (p.Val283fs)
|
rs1596893071
|
|
NM_145239.3(PRRT2):c.870T>G (p.Tyr290Ter)
|
rs1244255905
|
|
NM_145239.3(PRRT2):c.880-1G>A
|
rs1596893952
|
|
NM_145239.3(PRRT2):c.880-1G>C
|
rs1596893952
|
|
NM_145239.3(PRRT2):c.880-1G>T
|
rs1596893952
|
|
NM_145239.3(PRRT2):c.885del (p.Asn296fs)
|
|
|
NM_145239.3(PRRT2):c.895C>T (p.Gln299Ter)
|
|
|
NM_145239.3(PRRT2):c.913G>C (p.Gly305Arg)
|
|
|
NM_145239.3(PRRT2):c.916G>C (p.Ala306Pro)
|
rs727504111
|
|
NM_145239.3(PRRT2):c.916_924del (p.Ala306_Arg308del)
|
|
|
NM_145239.3(PRRT2):c.916_934del (p.Gly305_Ala306insTer)
|
rs2142428932
|
|
NM_145239.3(PRRT2):c.921del (p.Gln307fs)
|
rs1900137777
|
|
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys)
|
rs932713001
|
|
NM_145239.3(PRRT2):c.922_923del (p.Arg308fs)
|
|
|
NM_145239.3(PRRT2):c.936_965del (p.Ala313_Val322del)
|
|
|
NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn)
|
rs387907125
|
|
NM_145239.3(PRRT2):c.970G>T (p.Gly324Ter)
|
rs906768870
|
|
NM_145239.3(PRRT2):c.971G>A (p.Gly324Glu)
|
rs796052938
|
|
NM_145239.3(PRRT2):c.971del (p.Gly324fs)
|
rs796052941
|
|
NM_145239.3(PRRT2):c.971dup (p.Val325fs)
|
rs796052941
|
|
NM_145239.3(PRRT2):c.972_975del (p.Val325fs)
|
rs1555502908
|
|
NM_145239.3(PRRT2):c.972del (p.Val325fs)
|
rs730882066
|
|
NM_145239.3(PRRT2):c.976del (p.Leu326fs)
|
|
|
NM_145239.3(PRRT2):c.991del (p.Ser331fs)
|
|
|
NM_152296.5(ATP1A3):c.1072G>A (p.Gly358Ser)
|
rs606231432
|
|
NM_152296.5(ATP1A3):c.1072G>T (p.Gly358Cys)
|
rs606231432
|
|
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp)
|
rs1555863693
|
|
NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr)
|
rs2145972483
|
|
NM_152296.5(ATP1A3):c.1299del (p.Lys434fs)
|
|
|
NM_152296.5(ATP1A3):c.1429A>T (p.Lys477Ter)
|
rs2145971509
|
|
NM_152296.5(ATP1A3):c.1784_1792del (p.Lys595_Arg597del)
|
|
|
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
|
|
|
NM_152296.5(ATP1A3):c.1930C>T (p.Gln644Ter)
|
rs1555861946
|
|
NM_152296.5(ATP1A3):c.1959C>A (p.Cys653Ter)
|
rs782105093
|
|
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)
|
rs782175860
|
|
NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg)
|
|
|
NM_152296.5(ATP1A3):c.2144T>C (p.Leu715Pro)
|
rs2075159021
|
|
NM_152296.5(ATP1A3):c.2153C>A (p.Ala718Asp)
|
rs2075158829
|
|
NM_152296.5(ATP1A3):c.2167G>C (p.Ala723Pro)
|
|
|
NM_152296.5(ATP1A3):c.2224GAC[1] (p.Asp743del)
|
|
|
NM_152296.5(ATP1A3):c.2225A>T (p.Asp742Val)
|
rs2145959393
|
|
NM_152296.5(ATP1A3):c.2263G>A (p.Gly755Ser)
|
rs557052809
|
|
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys)
|
rs557052809
|
|
NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala)
|
rs606231434
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser)
|
rs80356535
|
|
NM_152296.5(ATP1A3):c.2315G>A (p.Ser772Asn)
|
rs1064795234
|
|
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser)
|
rs606231437
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu)
|
rs80356536
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr)
|
rs80356537
|
|
NM_152296.5(ATP1A3):c.2408G>A (p.Gly803Asp)
|
rs1555859571
|
|
NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu)
|
rs606231439
|
|
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro)
|
rs387907282
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
NM_152296.5(ATP1A3):c.2542+1G>A
|
rs606231441
|
|
NM_152296.5(ATP1A3):c.2542+1G>C
|
rs606231441
|
|
NM_152296.5(ATP1A3):c.2652dup (p.Val885fs)
|
rs2145945849
|
|
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala)
|
rs1599725621
|
|
NM_152296.5(ATP1A3):c.2673_2678del (p.Ser891_Gly893delinsArg)
|
rs2145945805
|
|
NM_152296.5(ATP1A3):c.2677G>A (p.Gly893Arg)
|
rs1568853466
|
|
NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del)
|
rs606231443
|
|
NM_152296.5(ATP1A3):c.2759A>C (p.Gln920Pro)
|
|
|
NM_152296.5(ATP1A3):c.2763G>A (p.Trp921Ter)
|
rs1060500993
|
|
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2767G>C (p.Asp923His)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2768A>C (p.Asp923Ala)
|
rs2075071528
|
|
NM_152296.5(ATP1A3):c.2771T>C (p.Leu924Pro)
|
rs1555859157
|
|
NM_152296.5(ATP1A3):c.281T>C (p.Leu94Pro)
|
|
|
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2902del (p.Leu968fs)
|
|
|
NM_152296.5(ATP1A3):c.2966_2996del (p.Phe989fs)
|
|
|
NM_152296.5(ATP1A3):c.3013+1G>A
|
rs2145941195
|
|
NM_152296.5(ATP1A3):c.3035ACT[3] (p.Tyr1013dup)
|
rs397515382
|
|
NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr)
|
rs542652468
|
|
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)
|
rs542652468
|
|
NM_152296.5(ATP1A3):c.562C>T (p.Arg188Ter)
|
rs2075282510
|
|
NM_152296.5(ATP1A3):c.821T>C (p.Ile274Thr)
|
rs80356532
|
|
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys)
|
rs80356533
|
|
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser)
|
rs869320661
|
|
NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met)
|
rs529241207
|
|
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro)
|
rs879255368
|
|
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)
|
rs864309572
|
|
NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg)
|
rs1131691307
|
|
NM_153266.4(TMEM151A):c.1043G>A (p.Trp348Ter)
|
|
|
NM_153266.4(TMEM151A):c.1085A>G (p.Glu362Gly)
|
|
|
NM_153266.4(TMEM151A):c.1275dup (p.Pro426fs)
|
|
|
NM_153266.4(TMEM151A):c.166G>C (p.Gly56Arg)
|
|
|
NM_153266.4(TMEM151A):c.375C>A (p.Cys125Ter)
|
|
|
NM_153266.4(TMEM151A):c.606_607insA (p.Val203fs)
|
|
|
NM_153266.4(TMEM151A):c.758T>C (p.Leu253Pro)
|
|
|
NM_153266.4(TMEM151A):c.791T>C (p.Val264Ala)
|
|
|
NM_153266.4(TMEM151A):c.897_912del (p.Leu300fs)
|
|
|
TAF1, SVA RETROTRANSPOSON INSERTION
|
|
|