ClinVar Miner

List of variants studied for combined dystonia

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3394
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HGVS dbSNP gnomAD frequency
NM_145239.3(PRRT2):c.751T>C (p.Leu251=) rs11150573 0.99277
NM_001044.5(SLC6A3):c.1498+14A>G rs429699 0.98180
NM_003054.6(SLC18A2):c.-15-39A>C rs2619094 0.94938
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_003054.6(SLC18A2):c.700+15C>T rs2072362 0.90152
NM_001282684.2(KCTD17):c.405C>T (p.His135=) rs710185 0.80939
NM_003054.6(SLC18A2):c.791-42C>A rs363343 0.74530
NM_152296.5(ATP1A3):c.*39C>G rs919390 0.69962
NM_015488.5(PNKD):c.237-8707G>A rs10932775 0.45181
NM_015488.5(PNKD):c.*902T>C rs1052578 0.43563
NM_015488.5(PNKD):c.*1077G>A rs9076 0.43520
NM_015488.5(PNKD):c.*92C>A rs921970 0.35927
NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=) rs6347 0.32752
NM_001044.5(SLC6A3):c.*35T>C rs1042098 0.31144
NM_001044.5(SLC6A3):c.419-12C>A rs460000 0.30619
NM_006516.4(SLC2A1):c.-197A>C rs11537640 0.23186
NM_006516.2(SLC2A1):c.-390delA rs28365848 0.23160
NM_003690.5(PRKRA):c.*313G>A rs3997879 0.22352
NM_003690.5(PRKRA):c.*158A>G rs3997877 0.22348
NM_003690.5(PRKRA):c.685C>T (p.Leu229=) rs62176107 0.22118
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=) rs1385129 0.21537
NM_003690.5(PRKRA):c.*553A>G rs3997881 0.21501
NM_003690.5(PRKRA):c.*198C>T rs3997878 0.21384
NM_003690.5(PRKRA):c.*3C>T rs3997876 0.21371
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_003690.5(PRKRA):c.-24G>A rs62176113 0.15636
NM_006516.2(SLC2A1):c.-490G>C rs3754226 0.14227
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn) rs77419724 0.13676
NM_001282684.2(KCTD17):c.55G>A (p.Ala19Thr) rs113687833 0.11849
NM_003919.3(SGCE):c.391-43A>C rs2272091 0.10996
NM_015488.5(PNKD):c.*507G>C rs7586140 0.09268
NM_001044.5(SLC6A3):c.286+20C>G rs8179023 0.09016
NM_003919.3(SGCE):c.391-3T>C rs17166384 0.08209
NM_001044.5(SLC6A3):c.810C>T (p.Ala270=) rs6348 0.07818
NM_003690.5(PRKRA):c.*655T>C rs4533501 0.06663
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) rs2229680 0.06553
NM_015488.5(PNKD):c.486G>A (p.Gly162=) rs34014804 0.06442
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=) rs6350 0.05616
NM_003690.5(PRKRA):c.173A>G (p.Asp58Gly) rs61999302 0.05287
NM_006516.4(SLC2A1):c.*1213G>T rs55728431 0.04893
NM_003690.5(PRKRA):c.549T>C (p.Asn183=) rs61746229 0.04819
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu) rs9406386 0.04659
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_015488.5(PNKD):c.*1193C>T rs76752438 0.04131
NM_001044.5(SLC6A3):c.150G>T (p.Pro50=) rs6346 0.04096
NM_001282684.2(KCTD17):c.897C>T (p.Pro299=) rs116956945 0.03645
NM_001044.5(SLC6A3):c.1731C>T (p.Ala577=) rs6349 0.02926
NM_001044.5(SLC6A3):c.1527G>A (p.Gln509=) rs6880875 0.02803
NM_015488.5(PNKD):c.652C>A (p.Arg218=) rs34745867 0.02221
NM_003690.5(PRKRA):c.609+20A>G rs73973115 0.02096
NM_003690.5(PRKRA):c.*200G>A rs141995027 0.01989
NM_015488.5(PNKD):c.455G>A (p.Arg152Gln) rs73990423 0.01825
NM_006516.4(SLC2A1):c.-190G>C rs114514007 0.01675
NM_152296.5(ATP1A3):c.994-20T>G rs138485069 0.01603
NM_015488.5(PNKD):c.939G>A (p.Arg313=) rs116144189 0.01354
NM_152296.5(ATP1A3):c.*106T>C rs180885057 0.01288
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017 0.01238
NM_152296.5(ATP1A3):c.2264-16C>T rs149116776 0.01189
NM_006516.4(SLC2A1):c.19-207T>C rs41310434 0.01173
NM_003690.5(PRKRA):c.*159T>C rs115244185 0.01037
NM_006516.4(SLC2A1):c.973-17A>G rs111596088 0.01025
NM_001044.5(SLC6A3):c.653+13C>T rs16878300 0.00986
NM_003690.5(PRKRA):c.861C>T (p.Ser287=) rs116833881 0.00976
NM_015488.5(PNKD):c.*1723T>C rs58320146 0.00937
NM_003919.3(SGCE):c.1253+814G>A rs183951730 0.00875
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=) rs35272495 0.00802
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_006516.4(SLC2A1):c.*60C>T rs2229684 0.00754
NM_145239.3(PRRT2):c.751= (p.Leu251=) rs11150573 0.00723
NM_015488.4(PNKD):c.-105A>T rs183319984 0.00706
NM_003690.5(PRKRA):c.795C>T (p.Ser265=) rs150679361 0.00662
NM_015488.5(PNKD):c.*992C>G rs115429065 0.00623
NM_003919.3(SGCE):c.*101A>G rs193172306 0.00600
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351 0.00589
NM_015488.5(PNKD):c.*211C>T rs189926206 0.00565
NM_015488.5(PNKD):c.*1665G>A rs145193682 0.00564
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00560
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_001044.5(SLC6A3):c.1413C>G (p.Val471=) rs8179035 0.00436
NM_001282684.2(KCTD17):c.791G>A (p.Arg264His) rs146127576 0.00432
NM_015488.5(PNKD):c.*451A>G rs148230498 0.00414
NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu) rs62176112 0.00410
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=) rs28364996 0.00396
NM_003919.3(SGCE):c.369G>C (p.Val123=) rs140913016 0.00393
NM_006516.4(SLC2A1):c.*1587A>G rs140560514 0.00366
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_145239.3(PRRT2):c.880-14C>T rs148323840 0.00326
NM_001282684.2(KCTD17):c.336G>A (p.Pro112=) rs35901190 0.00322
NM_003690.5(PRKRA):c.784+6A>T rs188208530 0.00302
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro) rs116105264 0.00283
NM_152296.5(ATP1A3):c.2819+20G>A rs148592392 0.00279
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789 0.00243
NM_152296.5(ATP1A3):c.2921+11C>T rs190570469 0.00230
NM_001044.5(SLC6A3):c.1692C>T (p.Ile564=) rs28364998 0.00228
NM_015488.5(PNKD):c.*607T>C rs141201996 0.00217
NM_003690.5(PRKRA):c.*31G>A rs372585947 0.00216
NM_152296.5(ATP1A3):c.1944-20G>T rs200665663 0.00216
NM_006516.4(SLC2A1):c.*1588G>A rs189700252 0.00206
NM_001044.5(SLC6A3):c.1398C>T (p.Asn466=) rs2270912 0.00194
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=) rs146199765 0.00177
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=) rs142496099 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_015488.5(PNKD):c.236+1180G>A rs148049021 0.00172
NM_003690.5(PRKRA):c.-104G>A rs545506202 0.00168
NM_003690.5(PRKRA):c.65+16G>A rs565738732 0.00168
NM_006516.4(SLC2A1):c.*626G>A rs6413525 0.00163
NM_001282684.2(KCTD17):c.916C>G (p.His306Asp) rs146711968 0.00156
NM_001044.5(SLC6A3):c.1839+9G>A rs184515054 0.00152
NM_001044.5(SLC6A3):c.1356C>T (p.Ile452=) rs115529609 0.00150
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776 0.00146
NM_003919.3(SGCE):c.1254-10T>C rs142854334 0.00144
NM_015488.5(PNKD):c.254G>A (p.Arg85His) rs150402000 0.00140
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg) rs147259983 0.00139
NM_145239.3(PRRT2):c.612C>G (p.Pro204=) rs149260055 0.00129
NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser) rs11556732 0.00118
NM_001282684.2(KCTD17):c.390+6G>A rs149432408 0.00111
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_003919.3(SGCE):c.606A>G (p.Thr202=) rs148979783 0.00105
NM_006516.4(SLC2A1):c.*346G>A rs190760291 0.00104
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) rs115541691 0.00102
NM_015488.5(PNKD):c.*1549G>A rs79061826 0.00102
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874 0.00093
NM_001044.5(SLC6A3):c.1032-18C>T rs8179028 0.00090
NM_015488.4(PNKD):c.*1821C>T rs142330726 0.00090
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_006516.4(SLC2A1):c.*571C>T rs6413524 0.00083
NM_015488.5(PNKD):c.835C>T (p.Leu279=) rs149643391 0.00082
NM_006516.4(SLC2A1):c.*22G>A rs2229683 0.00081
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe) rs71653633 0.00080
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=) rs113909283 0.00080
NM_015488.5(PNKD):c.*38G>A rs201679687 0.00078
NM_015488.5(PNKD):c.524+13C>T rs150529046 0.00078
NM_152296.5(ATP1A3):c.*315G>A rs571857150 0.00073
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00070
NM_015488.5(PNKD):c.466-11C>T rs142473649 0.00070
NM_001044.5(SLC6A3):c.1080C>T (p.Ser360=) rs142241083 0.00069
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_015488.5(PNKD):c.*1139C>G rs547847157 0.00068
NM_003690.4(PRKRA):c.-149T>C rs559331370 0.00066
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) rs141421692 0.00065
NM_015488.5(PNKD):c.352+12C>T rs201092853 0.00064
NM_006516.4(SLC2A1):c.275+17C>T rs761669510 0.00061
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_003690.5(PRKRA):c.-124C>A rs186454714 0.00060
NM_003690.5(PRKRA):c.-125G>A rs190533045 0.00060
NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val) rs28364997 0.00059
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
NM_001044.5(SLC6A3):c.60G>A (p.Glu20=) rs115160598 0.00057
NM_001044.5(SLC6A3):c.78G>A (p.Pro26=) rs144264359 0.00057
NM_015488.5(PNKD):c.*155C>T rs753020574 0.00054
NM_015488.5(PNKD):c.321C>T (p.Gly107=) rs144856848 0.00053
NM_015488.5(PNKD):c.919G>A (p.Glu307Lys) rs139825405 0.00053
NM_003919.2(SGCE):c.-84T>C rs747133401 0.00052
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) rs150785666 0.00050
NM_145239.3(PRRT2):c.645C>T (p.Pro215=) rs183683129 0.00049
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=) rs150384629 0.00047
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_004606.5(TAF1):c.422C>T (p.Pro141Leu) rs141145230 0.00045
NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=) rs145114326 0.00044
NM_015488.5(PNKD):c.237-9G>A rs371173395 0.00044
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00044
NM_152296.5(ATP1A3):c.*236T>C rs199854166 0.00044
NM_145239.3(PRRT2):c.828C>T (p.Cys276=) rs35625748 0.00043
NM_003690.5(PRKRA):c.-64C>G rs576729883 0.00041
NM_015488.5(PNKD):c.*1490G>A rs971155594 0.00041
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=) rs8179034 0.00039
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg) rs200926711 0.00039
NM_006516.4(SLC2A1):c.*1337A>C rs113441673 0.00038
NM_003919.2(SGCE):c.-97G>A rs529057223 0.00037
NM_003690.5(PRKRA):c.*79G>A rs9678530 0.00036
NM_003919.3(SGCE):c.510T>C (p.Asn170=) rs55853245 0.00036
NM_001044.5(SLC6A3):c.1086C>T (p.Phe362=) rs28363072 0.00035
NM_001044.5(SLC6A3):c.1600-17G>A rs370345490 0.00035
NM_001282684.2(KCTD17):c.298+9G>C rs374499572 0.00035
NM_015488.5(PNKD):c.781+12C>T rs370963150 0.00035
NM_001044.5(SLC6A3):c.456C>T (p.Val152=) rs147399016 0.00034
NM_001044.5(SLC6A3):c.70G>A (p.Val24Met) rs201800694 0.00034
NM_001044.5(SLC6A3):c.1498+10G>A rs759848180 0.00033
NM_001282684.2(KCTD17):c.882C>T (p.Tyr294=) rs142739650 0.00033
NM_003919.3(SGCE):c.*172T>C rs112954947 0.00033
NM_004606.5(TAF1):c.4698G>A (p.Arg1566=) rs148007434 0.00033
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys) rs148518827 0.00031
NM_015488.5(PNKD):c.24G>A (p.Thr8=) rs371342116 0.00031
NM_001044.5(SLC6A3):c.1118A>G (p.Gln373Arg) rs115282473 0.00029
NM_001044.5(SLC6A3):c.1390G>A (p.Val464Ile) rs140401978 0.00029
NM_004606.5(TAF1):c.4754-4A>G rs370696191 0.00029
NM_015488.5(PNKD):c.236+18C>G rs369983094 0.00029
NM_001282684.2(KCTD17):c.853C>T (p.Arg285Cys) rs199921196 0.00028
NM_001044.5(SLC6A3):c.1805A>G (p.Glu602Gly) rs147837176 0.00027
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=) rs143904999 0.00027
NM_001044.5(SLC6A3):c.1767+13A>G rs28363130 0.00026
NM_001044.5(SLC6A3):c.1857G>C (p.Lys619Asn) rs200712598 0.00026
NM_003690.5(PRKRA):c.*151A>T rs886055203 0.00026
NM_015488.5(PNKD):c.237-16514T>A rs776565425 0.00026
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser) rs779020826 0.00026
NM_152296.5(ATP1A3):c.-148T>G rs769525784 0.00026
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319 0.00026
NM_152296.5(ATP1A3):c.597C>T (p.His199=) rs139145792 0.00026
NM_001044.5(SLC6A3):c.1269+12G>A rs367687282 0.00025
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala) rs144540943 0.00025
NM_001044.5(SLC6A3):c.1089C>T (p.Val363=) rs114461544 0.00024
NM_003690.5(PRKRA):c.66-10G>T rs375307696 0.00024
NM_015488.5(PNKD):c.165C>T (p.Pro55=) rs201680473 0.00024
NM_003919.3(SGCE):c.1072C>T (p.Leu358=) rs139062360 0.00023
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=) rs8179027 0.00022
NM_152296.5(ATP1A3):c.7-17G>A rs201253471 0.00022
NM_001044.5(SLC6A3):c.1032-14T>C rs375742593 0.00021
NM_003690.5(PRKRA):c.*265A>C rs886055201 0.00021
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226 0.00021
NM_152296.5(ATP1A3):c.756C>T (p.Gly252=) rs150070299 0.00021
NM_001044.5(SLC6A3):c.1035C>T (p.Asp345=) rs369288905 0.00019
NM_001044.5(SLC6A3):c.1137C>T (p.Ile379=) rs201605046 0.00019
NM_001044.5(SLC6A3):c.605C>G (p.Ser202Trp) rs149444784 0.00019
NM_003919.3(SGCE):c.429G>T (p.Arg143Ser) rs145010266 0.00019
NM_145239.3(PRRT2):c.225G>A (p.Pro75=) rs199662641 0.00019
NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=) rs114563841 0.00018
NM_152296.5(ATP1A3):c.94-16A>C rs782612422 0.00018
NM_006516.4(SLC2A1):c.972+17T>A rs202140308 0.00017
NM_015488.5(PNKD):c.323A>G (p.His108Arg) rs142536637 0.00017
NM_152296.5(ATP1A3):c.2856G>A (p.Thr952=) rs148292376 0.00017
NM_001044.5(SLC6A3):c.1036G>A (p.Ala346Thr) rs375720650 0.00016
NM_003919.3(SGCE):c.975G>A (p.Ser325=) rs145040065 0.00016
NM_006516.4(SLC2A1):c.276-11C>T rs376422395 0.00016
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=) rs144685583 0.00016
NM_015488.5(PNKD):c.281G>A (p.Arg94Gln) rs140941237 0.00016
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_152296.5(ATP1A3):c.6+3A>G rs369853936 0.00016
NM_001282684.2(KCTD17):c.777C>T (p.Pro259=) rs548803912 0.00015
NM_003919.3(SGCE):c.391A>G (p.Ile131Val) rs370609227 0.00015
NM_006516.4(SLC2A1):c.*971G>A rs185891628 0.00015
NM_015488.5(PNKD):c.352+19G>A rs768284028 0.00015
NM_001282684.2(KCTD17):c.894A>T (p.Ala298=) rs758691104 0.00014
NM_004606.5(TAF1):c.235+3G>A rs368024152 0.00014
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His) rs149998596 0.00014
NM_015488.5(PNKD):c.1102C>G (p.Arg368Gly) rs185906233 0.00014
NM_015488.5(PNKD):c.350A>G (p.Asn117Ser) rs199572198 0.00014
NM_015488.5(PNKD):c.781+13G>A rs201802667 0.00014
NM_001044.5(SLC6A3):c.1296C>T (p.Thr432=) rs115254960 0.00013
NM_001044.5(SLC6A3):c.34T>C (p.Ser12Pro) rs149180162 0.00013
NM_006516.4(SLC2A1):c.517-18G>A rs372553463 0.00013
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr) rs5811 0.00013
NM_015488.5(PNKD):c.964C>T (p.Arg322Trp) rs751050132 0.00013
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627 0.00013
NM_152296.5(ATP1A3):c.2493G>A (p.Thr831=) rs374157034 0.00013
NM_001044.5(SLC6A3):c.653+14G>A rs374067917 0.00012
NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile) rs145782788 0.00012
NM_003919.3(SGCE):c.328A>G (p.Ser110Gly) rs370382282 0.00012
NM_003919.3(SGCE):c.787C>T (p.Arg263Cys) rs199871508 0.00012
NM_003919.3(SGCE):c.905A>T (p.Lys302Ile) rs762287154 0.00012
NM_006516.4(SLC2A1):c.*1016A>G rs886046334 0.00012
NM_015488.5(PNKD):c.*1118T>A rs762512024 0.00012
NM_015488.5(PNKD):c.959G>A (p.Arg320Gln) rs200815994 0.00012
NM_001044.5(SLC6A3):c.385G>A (p.Ala129Thr) rs780852886 0.00011
NM_001044.5(SLC6A3):c.710G>A (p.Arg237Gln) rs6345 0.00011
NM_003919.3(SGCE):c.138C>T (p.Ser46=) rs116632777 0.00011
NM_015488.5(PNKD):c.*868T>C rs998136972 0.00011
NM_015488.5(PNKD):c.1068G>A (p.Pro356=) rs139193832 0.00011
NM_015488.5(PNKD):c.116G>C (p.Arg39Pro) rs367998906 0.00011
NM_015488.5(PNKD):c.466-3C>A rs370929830 0.00011
NM_015488.5(PNKD):c.524+14G>A rs373580030 0.00011
NM_145239.3(PRRT2):c.879+6C>A rs201887920 0.00011
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579 0.00011
NM_152296.5(ATP1A3):c.2115C>T (p.Thr705=) rs371962113 0.00011
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=) rs146600566 0.00011
NM_152296.5(ATP1A3):c.2419-17C>T rs541464159 0.00011
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181 0.00011
NM_152296.5(ATP1A3):c.531C>T (p.Val177=) rs141696210 0.00011
NM_001044.5(SLC6A3):c.792+7C>T rs370881183 0.00010
NM_001282684.2(KCTD17):c.499G>A (p.Gly167Ser) rs200563649 0.00010
NM_006516.4(SLC2A1):c.*587A>T rs748209315 0.00010
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_015488.5(PNKD):c.*826G>T rs772338538 0.00010
NM_145239.3(PRRT2):c.171C>T (p.Ala57=) rs771487218 0.00010
NM_152296.5(ATP1A3):c.2489G>A (p.Arg830Gln) rs368371895 0.00010
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=) rs369555293 0.00010
NM_152296.5(ATP1A3):c.2616C>A (p.Asn872Lys) rs782057287 0.00010
NM_152296.5(ATP1A3):c.93+5G>A rs372694213 0.00010
NM_001044.5(SLC6A3):c.1641C>G (p.His547Gln) rs140639546 0.00009
NM_001044.5(SLC6A3):c.1763G>A (p.Arg588Gln) rs376797072 0.00009
NM_001044.5(SLC6A3):c.1766A>T (p.Glu589Val) rs757597222 0.00009
NM_001044.5(SLC6A3):c.33G>C (p.Met11Ile) rs143342582 0.00009
NM_001044.5(SLC6A3):c.792+10G>A rs199702486 0.00009
NM_001282684.2(KCTD17):c.42G>T (p.Ala14=) rs555901657 0.00009
NM_003690.5(PRKRA):c.-65C>G rs557426364 0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu) rs121434410 0.00009
NM_004606.5(TAF1):c.4155G>A (p.Thr1385=) rs202158967 0.00009
NM_006516.4(SLC2A1):c.*463T>C rs186437621 0.00009
NM_006516.4(SLC2A1):c.*651G>T rs886046337 0.00009
NM_006516.4(SLC2A1):c.*784A>G rs886046335 0.00009
NM_006516.4(SLC2A1):c.-26G>C rs375001117 0.00009
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=) rs137868589 0.00009
NM_006516.4(SLC2A1):c.18+14C>T rs970369883 0.00009
NM_015488.5(PNKD):c.839G>T (p.Gly280Val) rs766132328 0.00009
NM_145239.3(PRRT2):c.960G>A (p.Ala320=) rs753833531 0.00009
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=) rs143242360 0.00009
NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=) rs2288507 0.00009
NM_152296.5(ATP1A3):c.1968C>T (p.His656=) rs142297106 0.00009
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=) rs372737275 0.00009
NM_152296.5(ATP1A3):c.2419-16G>A rs199926456 0.00009
NM_152296.5(ATP1A3):c.2451C>T (p.Ala817=) rs148392240 0.00009
NM_152296.5(ATP1A3):c.607-7C>A rs782819736 0.00009
NM_152296.5(ATP1A3):c.993+9A>T rs376821676 0.00009
NR_104387.1(TAF1):n.5894C>T rs397509359 0.00009
NM_001044.5(SLC6A3):c.1600-18C>T rs761610559 0.00008
NM_001044.5(SLC6A3):c.77C>T (p.Pro26Leu) rs757417973 0.00008
NM_001282684.2(KCTD17):c.486+5G>A rs201383375 0.00008
NM_003690.5(PRKRA):c.233C>A (p.Thr78Lys) rs189979808 0.00008
NM_003919.3(SGCE):c.294T>C (p.Pro98=) rs138616225 0.00008
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=) rs75852730 0.00008
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=) rs201989024 0.00008
NM_015488.5(PNKD):c.498C>T (p.Val166=) rs376951824 0.00008
NM_015488.5(PNKD):c.665G>A (p.Arg222Gln) rs777574834 0.00008
NM_145239.3(PRRT2):c.580G>A (p.Glu194Lys) rs139516010 0.00008
NM_152296.5(ATP1A3):c.63C>T (p.Asp21=) rs367930558 0.00008
NM_001044.5(SLC6A3):c.1728G>A (p.Ala576=) rs769456530 0.00007
NM_001044.5(SLC6A3):c.969C>T (p.Gly323=) rs369950427 0.00007
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu) rs17851923 0.00007
NM_006516.4(SLC2A1):c.*560T>C rs545613558 0.00007
NM_006516.4(SLC2A1):c.*609G>C rs1020397288 0.00007
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 0.00007
NM_015488.5(PNKD):c.*1725T>C rs149172912 0.00007
NM_015488.5(PNKD):c.1120G>A (p.Glu374Lys) rs936912635 0.00007
NM_015488.5(PNKD):c.340C>T (p.Arg114Cys) rs374529489 0.00007
NM_015488.5(PNKD):c.664C>T (p.Arg222Trp) rs758297049 0.00007
NM_015488.5(PNKD):c.984+1G>A rs577027430 0.00007
NM_145239.3(PRRT2):c.655C>T (p.Leu219=) rs1201038361 0.00007
NM_145239.3(PRRT2):c.880-13G>A rs377384734 0.00007
NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=) rs186453162 0.00007
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196 0.00007
NM_152296.5(ATP1A3):c.915C>T (p.Tyr305=) rs199711612 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000795.4(DRD2):c.460G>A (p.Val154Ile) rs104894220 0.00006
NM_001044.5(SLC6A3):c.1038G>A (p.Ala346=) rs111362222 0.00006
NM_001044.5(SLC6A3):c.1446G>A (p.Thr482=) rs750649054 0.00006
NM_001044.5(SLC6A3):c.149C>T (p.Pro50Leu) rs146798197 0.00006
NM_001044.5(SLC6A3):c.1767+19C>T rs751182754 0.00006
NM_001044.5(SLC6A3):c.1839+8C>T rs533644928 0.00006
NM_001044.5(SLC6A3):c.330G>A (p.Gly110=) rs112801202 0.00006
NM_001044.5(SLC6A3):c.418+9C>T rs528589234 0.00006
NM_001282684.2(KCTD17):c.306G>A (p.Leu102=) rs755532238 0.00006
NM_001282684.2(KCTD17):c.498C>T (p.Ile166=) rs34395802 0.00006
NM_001282684.2(KCTD17):c.699T>C (p.Asp233=) rs969405373 0.00006
NM_001282684.2(KCTD17):c.99G>A (p.Thr33=) rs747826376 0.00006
NM_003690.5(PRKRA):c.235+11A>G rs753131558 0.00006
NM_003690.5(PRKRA):c.54T>C (p.Ser18=) rs1235471739 0.00006
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr) rs148050153 0.00006
NM_003919.3(SGCE):c.1165G>C (p.Val389Leu) rs374697567 0.00006
NM_003919.3(SGCE):c.235G>A (p.Glu79Lys) rs375983969 0.00006
NM_003919.3(SGCE):c.409C>T (p.Arg137Cys) rs557861177 0.00006
NM_006516.4(SLC2A1):c.*750T>A rs886046336 0.00006
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=) rs763664146 0.00006
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_006516.4(SLC2A1):c.18+12G>T rs587781171 0.00006
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) rs200828053 0.00006
NM_006516.4(SLC2A1):c.19-12G>A rs372344816 0.00006
NM_006516.4(SLC2A1):c.19-5C>T rs376653618 0.00006
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=) rs539490455 0.00006
NM_015488.5(PNKD):c.*1141G>A rs577960985 0.00006
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala) rs202190131 0.00006
NM_015488.5(PNKD):c.384G>A (p.Ser128=) rs544137720 0.00006
NM_015488.5(PNKD):c.430G>T (p.Val144Leu) rs764910957 0.00006
NM_015488.5(PNKD):c.645C>T (p.Ser215=) rs373992679 0.00006
NM_015488.5(PNKD):c.653G>A (p.Arg218Gln) rs746884706 0.00006
NM_015488.5(PNKD):c.785G>A (p.Arg262Gln) rs759669801 0.00006
NM_015488.5(PNKD):c.833T>G (p.Val278Gly) rs1220987446 0.00006
NM_015488.5(PNKD):c.973C>T (p.Arg325Cys) rs149750691 0.00006
NM_015488.5(PNKD):c.984G>A (p.Thr328=) rs371356115 0.00006
NM_145239.3(PRRT2):c.643C>T (p.Pro215Ser) rs374642875 0.00006
NM_152296.4(ATP1A3):c.-186G>A rs886054478 0.00006
NM_152296.5(ATP1A3):c.*13C>A rs781878302 0.00006
NM_152296.5(ATP1A3):c.-64A>G rs373531937 0.00006
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=) rs782325595 0.00006
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln) rs201573515 0.00006
NM_152296.5(ATP1A3):c.1923C>T (p.Pro641=) rs370996990 0.00006
NM_152296.5(ATP1A3):c.1959C>T (p.Cys653=) rs782105093 0.00006
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=) rs141362710 0.00006
NM_152296.5(ATP1A3):c.2542+11G>A rs78146024 0.00006
NM_152296.5(ATP1A3):c.2819+10G>A rs782236178 0.00006
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=) rs141412861 0.00006
NM_152296.5(ATP1A3):c.357+9C>G rs782403205 0.00006
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys) rs782229302 0.00006
NM_152296.5(ATP1A3):c.739G>A (p.Val247Met) rs782227665 0.00006
NM_152296.5(ATP1A3):c.753G>A (p.Thr251=) rs782459932 0.00006
NM_001044.5(SLC6A3):c.1269C>T (p.Ala423=) rs200757674 0.00005
NM_001044.5(SLC6A3):c.822C>T (p.Tyr274=) rs777377892 0.00005
NM_001044.5(SLC6A3):c.895A>G (p.Ser299Gly) rs571552841 0.00005
NM_001044.5(SLC6A3):c.928-18C>T rs373449776 0.00005
NM_001282684.2(KCTD17):c.234C>T (p.Phe78=) rs756682413 0.00005
NM_003690.5(PRKRA):c.380C>T (p.Pro127Leu) rs75862065 0.00005
NM_003690.5(PRKRA):c.851G>T (p.Cys284Phe) rs199725025 0.00005
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) rs201378067 0.00005
NM_003919.3(SGCE):c.378A>C (p.Pro126=) rs746942662 0.00005
NM_004606.5(TAF1):c.4521G>A (p.Ala1507=) rs758753633 0.00005
NM_006516.4(SLC2A1):c.*368A>C rs946103123 0.00005
NM_006516.4(SLC2A1):c.*413G>A rs543194486 0.00005
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_015488.5(PNKD):c.559C>T (p.Arg187Trp) rs375550686 0.00005
NM_015488.5(PNKD):c.983C>T (p.Thr328Met) rs780464180 0.00005
NM_145239.3(PRRT2):c.167C>T (p.Ala56Val) rs780909712 0.00005
NM_145239.3(PRRT2):c.430C>G (p.Pro144Ala) rs150501365 0.00005
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) rs560303559 0.00005
NM_145239.3(PRRT2):c.974T>C (p.Val325Ala) rs779770451 0.00005
NM_152296.5(ATP1A3):c.1005G>A (p.Thr335=) rs781976856 0.00005
NM_152296.5(ATP1A3):c.1437+17G>A rs371469761 0.00005
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile) rs201391210 0.00005
NM_152296.5(ATP1A3):c.2325G>A (p.Pro775=) rs150943961 0.00005
NM_152296.5(ATP1A3):c.2689-19C>G rs781881227 0.00005
NM_152296.5(ATP1A3):c.3014-11T>C rs868980016 0.00005
NM_152296.5(ATP1A3):c.357+15C>A rs782291161 0.00005
NM_152296.5(ATP1A3):c.472-13C>T rs557984701 0.00005
NM_152296.5(ATP1A3):c.786C>T (p.Thr262=) rs74581050 0.00005
NM_152296.5(ATP1A3):c.858C>T (p.Thr286=) rs368998149 0.00005
NM_152296.5(ATP1A3):c.994-4C>G rs373698149 0.00005
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_001044.5(SLC6A3):c.1037C>T (p.Ala346Val) rs202173303 0.00004
NM_001044.5(SLC6A3):c.1157-15C>T rs375416292 0.00004
NM_001044.5(SLC6A3):c.1269+20C>T rs951684585 0.00004
NM_001044.5(SLC6A3):c.1364C>T (p.Ala455Val) rs370907238 0.00004
NM_001044.5(SLC6A3):c.1410C>T (p.Tyr470=) rs777317571 0.00004
NM_001044.5(SLC6A3):c.1440C>T (p.Ala480=) rs766191360 0.00004
NM_001044.5(SLC6A3):c.1602C>T (p.Phe534=) rs138475489 0.00004
NM_001044.5(SLC6A3):c.1829G>A (p.Arg610His) rs200431667 0.00004
NM_001044.5(SLC6A3):c.1dup (p.Met1fs) rs755504692 0.00004
NM_001044.5(SLC6A3):c.360C>T (p.Leu120=) rs148447720 0.00004
NM_001044.5(SLC6A3):c.444C>A (p.Ile148=) rs186229286 0.00004
NM_001044.5(SLC6A3):c.495C>T (p.His165=) rs1052784707 0.00004
NM_001044.5(SLC6A3):c.498T>C (p.Tyr166=) rs376593673 0.00004
NM_001044.5(SLC6A3):c.580C>T (p.Pro194Ser) rs756042082 0.00004
NM_001044.5(SLC6A3):c.924G>A (p.Ala308=) rs530952208 0.00004
NM_001282684.2(KCTD17):c.123G>A (p.Thr41=) rs1307842544 0.00004
NM_003690.5(PRKRA):c.261G>A (p.Ala87=) rs778921785 0.00004
NM_003690.5(PRKRA):c.65+10C>T rs535076601 0.00004
NM_003919.3(SGCE):c.1060C>T (p.Pro354Ser) rs983156830 0.00004
NM_003919.3(SGCE):c.1177G>A (p.Val393Met) rs150797717 0.00004
NM_003919.3(SGCE):c.142C>T (p.Arg48Trp) rs760964336 0.00004
NM_003919.3(SGCE):c.234C>T (p.Gly78=) rs768766085 0.00004
NM_003919.3(SGCE):c.305G>A (p.Arg102Gln) rs753195301 0.00004
NM_003919.3(SGCE):c.445A>G (p.Asn149Asp) rs780589840 0.00004
NM_003919.3(SGCE):c.59G>A (p.Arg20Gln) rs759241679 0.00004
NM_003919.3(SGCE):c.712G>C (p.Glu238Gln) rs200035109 0.00004
NM_003919.3(SGCE):c.738G>A (p.Leu246=) rs767137229 0.00004
NM_003919.3(SGCE):c.763G>A (p.Val255Ile) rs759032005 0.00004
NM_003919.3(SGCE):c.823T>C (p.Leu275=) rs780163710 0.00004
NM_003919.3(SGCE):c.895G>A (p.Gly299Arg) rs765792098 0.00004
NM_003919.3(SGCE):c.93C>T (p.Gly31=) rs748581376 0.00004
NM_006516.4(SLC2A1):c.-129G>T rs936174986 0.00004
NM_006516.4(SLC2A1):c.-192G>C rs886046342 0.00004
NM_006516.4(SLC2A1):c.-194G>A rs984267596 0.00004
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554 0.00004
NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala) rs748082803 0.00004
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser) rs138139624 0.00004
NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr) rs749067830 0.00004
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=) rs780638574 0.00004
NM_006516.4(SLC2A1):c.276-19C>T rs74945664 0.00004
NM_006516.4(SLC2A1):c.606C>T (p.Ile202=) rs779779804 0.00004
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His) rs374080633 0.00004
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=) rs534113895 0.00004
NM_006516.4(SLC2A1):c.822C>T (p.Ile274=) rs368242382 0.00004
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=) rs55693364 0.00004
NM_015488.5(PNKD):c.1010G>A (p.Arg337His) rs374137801 0.00004
NM_015488.5(PNKD):c.1094A>T (p.Asp365Val) rs754318977 0.00004
NM_015488.5(PNKD):c.1103G>A (p.Arg368Gln) rs372191275 0.00004
NM_015488.5(PNKD):c.16G>A (p.Ala6Thr) rs1023163176 0.00004
NM_015488.5(PNKD):c.237-16374C>T rs201323830 0.00004
NM_015488.5(PNKD):c.264C>T (p.Leu88=) rs138241166 0.00004
NM_015488.5(PNKD):c.301C>T (p.Arg101Trp) rs533033409 0.00004
NM_015488.5(PNKD):c.492C>T (p.Thr164=) rs775533328 0.00004
NM_015488.5(PNKD):c.869-5G>A rs375416202 0.00004
NM_015488.5(PNKD):c.984+11C>T rs779135692 0.00004
NM_145239.3(PRRT2):c.1013-16C>T rs539524685 0.00004
NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu) rs147004110 0.00004
NM_145239.3(PRRT2):c.304G>A (p.Glu102Lys) rs748419907 0.00004
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr) rs201636905 0.00004
NM_145239.3(PRRT2):c.433C>T (p.Arg145Trp) rs574304021 0.00004
NM_145239.3(PRRT2):c.709G>A (p.Gly237Arg) rs199556853 0.00004
NM_145239.3(PRRT2):c.719G>A (p.Arg240Gln) rs758246761 0.00004
NM_145239.3(PRRT2):c.734G>A (p.Arg245His) rs754897123 0.00004
NM_145239.3(PRRT2):c.961C>T (p.Leu321=) rs756741951 0.00004
NM_152296.5(ATP1A3):c.1017G>A (p.Lys339=) rs140106872 0.00004
NM_152296.5(ATP1A3):c.1134C>T (p.Val378=) rs180710845 0.00004
NM_152296.5(ATP1A3):c.1438-10C>T rs200271372 0.00004
NM_152296.5(ATP1A3):c.1467C>T (p.Asn489=) rs138797500 0.00004
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=) rs199625170 0.00004
NM_152296.5(ATP1A3):c.1821C>T (p.Thr607=) rs782381694 0.00004
NM_152296.5(ATP1A3):c.1824C>T (p.Gly608=) rs782288263 0.00004
NM_152296.5(ATP1A3):c.1884C>T (p.Asn628=) rs144130986 0.00004
NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=) rs145869619 0.00004
NM_152296.5(ATP1A3):c.2040C>T (p.Phe680=) rs372836589 0.00004
NM_152296.5(ATP1A3):c.204C>T (p.Asn68=) rs148043407 0.00004
NM_152296.5(ATP1A3):c.2094+15C>T rs782378908 0.00004
NM_152296.5(ATP1A3):c.2094+9C>T rs369771087 0.00004
NM_152296.5(ATP1A3):c.2190C>T (p.Asp730=) rs202060210 0.00004
NM_152296.5(ATP1A3):c.2221C>T (p.Leu741=) rs1302739794 0.00004
NM_152296.5(ATP1A3):c.2439G>A (p.Ala813=) rs189555627 0.00004
NM_152296.5(ATP1A3):c.243G>A (p.Lys81=) rs782433549 0.00004
NM_152296.5(ATP1A3):c.2634G>A (p.Leu878=) rs782293282 0.00004
NM_152296.5(ATP1A3):c.2689-17G>T rs370286197 0.00004
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His) rs145179304 0.00004
NM_152296.5(ATP1A3):c.2895C>T (p.Asp965=) rs782437931 0.00004
NM_152296.5(ATP1A3):c.472-5C>G rs372041397 0.00004
NM_152296.5(ATP1A3):c.861C>T (p.Gly287=) rs539729675 0.00004
NM_152296.5(ATP1A3):c.994-13G>A rs372105495 0.00004
NM_152296.5(ATP1A3):c.99G>A (p.Glu33=) rs35429923 0.00004
NM_001044.5(SLC6A3):c.1050C>T (p.Thr350=) rs777700658 0.00003
NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met) rs577802449 0.00003
NM_001044.5(SLC6A3):c.1269+16C>T rs750007484 0.00003
NM_001044.5(SLC6A3):c.1843C>T (p.Arg615Cys) rs763131939 0.00003
NM_001044.5(SLC6A3):c.201C>T (p.Ile67=) rs191426052 0.00003
NM_001044.5(SLC6A3):c.384C>T (p.Ala128=) rs771177632 0.00003
NM_001044.5(SLC6A3):c.939C>T (p.Asp313=) rs774707412 0.00003
NM_001282684.2(KCTD17):c.785G>A (p.Gly262Asp) rs756711502 0.00003
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe) rs752452731 0.00003
NM_003690.5(PRKRA):c.654G>A (p.Leu218=) rs763093482 0.00003
NM_003690.5(PRKRA):c.784+15T>C rs367606024 0.00003
NM_003690.5(PRKRA):c.85G>A (p.Ala29Thr) rs1293335092 0.00003
NM_003919.3(SGCE):c.1033G>A (p.Gly345Ser) rs553677309 0.00003
NM_003919.3(SGCE):c.1036G>A (p.Val346Met) rs533652380 0.00003
NM_003919.3(SGCE):c.1141G>A (p.Ala381Thr) rs1341048280 0.00003
NM_003919.3(SGCE):c.1158G>A (p.Thr386=) rs368276611 0.00003
NM_003919.3(SGCE):c.143G>A (p.Arg48Gln) rs148483382 0.00003
NM_003919.3(SGCE):c.14G>T (p.Arg5Leu) rs147148588 0.00003
NM_003919.3(SGCE):c.210A>G (p.Glu70=) rs907043992 0.00003
NM_003919.3(SGCE):c.279T>C (p.Gly93=) rs756901549 0.00003
NM_003919.3(SGCE):c.410G>A (p.Arg137His) rs548306335 0.00003
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu) rs768233445 0.00003
NM_003919.3(SGCE):c.471G>A (p.Pro157=) rs747531940 0.00003
NM_003919.3(SGCE):c.662+6C>T rs761449603 0.00003
NM_003919.3(SGCE):c.692C>T (p.Pro231Leu) rs755996611 0.00003
NM_003919.3(SGCE):c.764T>C (p.Val255Ala) rs773893939 0.00003
NM_006516.4(SLC2A1):c.*1149C>A rs779668330 0.00003
NM_006516.4(SLC2A1):c.*1246G>A rs886046330 0.00003
NM_006516.4(SLC2A1):c.*1281A>G rs1057515458 0.00003
NM_006516.4(SLC2A1):c.*597G>A rs886046338 0.00003
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met) rs577667739 0.00003
NM_006516.4(SLC2A1):c.339G>A (p.Ser113=) rs755571737 0.00003
NM_006516.4(SLC2A1):c.624C>G (p.Pro208=) rs778522408 0.00003
NM_015488.5(PNKD):c.*206C>T rs886055622 0.00003
NM_015488.5(PNKD):c.1090G>A (p.Asp364Asn) rs766821861 0.00003
NM_015488.5(PNKD):c.1126C>T (p.Arg376Cys) rs200042352 0.00003
NM_015488.5(PNKD):c.299C>T (p.Ala100Val) rs374645683 0.00003
NM_015488.5(PNKD):c.302G>A (p.Arg101Gln) rs368934552 0.00003
NM_015488.5(PNKD):c.37C>T (p.Arg13Trp) rs886055619 0.00003
NM_015488.5(PNKD):c.540G>A (p.Gly180=) rs748991526 0.00003
NM_015488.5(PNKD):c.648G>A (p.Val216=) rs767740808 0.00003
NM_015488.5(PNKD):c.877T>C (p.Tyr293His) rs368638126 0.00003
NM_015488.5(PNKD):c.932G>A (p.Arg311Gln) rs61745358 0.00003
NM_145239.3(PRRT2):c.112C>A (p.Leu38Ile) rs1208143772 0.00003
NM_145239.3(PRRT2):c.183A>G (p.Ser61=) rs775396962 0.00003
NM_145239.3(PRRT2):c.236C>T (p.Ser79Leu) rs750974008 0.00003
NM_145239.3(PRRT2):c.303C>T (p.Pro101=) rs570325174 0.00003
NM_145239.3(PRRT2):c.309C>T (p.Asp103=) rs772941122 0.00003
NM_145239.3(PRRT2):c.415G>A (p.Ala139Thr) rs763634807 0.00003
NM_145239.3(PRRT2):c.432C>T (p.Pro144=) rs749031499 0.00003
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln) rs200877676 0.00003
NM_145239.3(PRRT2):c.603C>G (p.His201Gln) rs543313284 0.00003
NM_145239.3(PRRT2):c.642C>A (p.Ala214=) rs1237572544 0.00003
NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly) rs1053144630 0.00003
NM_145239.3(PRRT2):c.797G>A (p.Arg266Gln) rs765285598 0.00003
NM_145239.3(PRRT2):c.865G>A (p.Ala289Thr) rs754794125 0.00003
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp) rs760521217 0.00003
NM_145239.3(PRRT2):c.967G>T (p.Gly323Trp) rs757940549 0.00003
NM_152296.5(ATP1A3):c.*298C>T rs781980860 0.00003
NM_152296.5(ATP1A3):c.1520G>A (p.Arg507His) rs782370873 0.00003
NM_152296.5(ATP1A3):c.1623C>T (p.Arg541=) rs370771508 0.00003
NM_152296.5(ATP1A3):c.1653C>G (p.Pro551=) rs782493144 0.00003
NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp) rs782415633 0.00003
NM_152296.5(ATP1A3):c.1728G>A (p.Val576=) rs370436157 0.00003
NM_152296.5(ATP1A3):c.1773C>T (p.Asp591=) rs782220233 0.00003
NM_152296.5(ATP1A3):c.1806+14T>C rs377372631 0.00003
NM_152296.5(ATP1A3):c.2004C>T (p.Ile668=) rs782209649 0.00003
NM_152296.5(ATP1A3):c.2418+18C>T rs369674143 0.00003
NM_152296.5(ATP1A3):c.2419-6G>A rs180749411 0.00003
NM_152296.5(ATP1A3):c.2652C>T (p.Thr884=) rs1156548474 0.00003
NM_152296.5(ATP1A3):c.3013+12C>T rs782424595 0.00003
NM_152296.5(ATP1A3):c.3014G>A (p.Gly1005Asp) rs1428514255 0.00003
NM_152296.5(ATP1A3):c.303C>T (p.Cys101=) rs781801187 0.00003
NM_152296.5(ATP1A3):c.327G>A (p.Ala109=) rs781907306 0.00003
NM_152296.5(ATP1A3):c.708C>T (p.Ser236=) rs145171914 0.00003
NM_152296.5(ATP1A3):c.724+8G>A rs781886157 0.00003
NM_152296.5(ATP1A3):c.994-9G>A rs201175414 0.00003
NM_001044.5(SLC6A3):c.1087G>A (p.Val363Ile) rs750843353 0.00002
NM_001044.5(SLC6A3):c.1138G>A (p.Gly380Arg) rs368954324 0.00002
NM_001044.5(SLC6A3):c.1270-10C>T rs756737267 0.00002
NM_001044.5(SLC6A3):c.1386C>T (p.Phe462=) rs765211329 0.00002
NM_001044.5(SLC6A3):c.1499-12C>G rs1048125664 0.00002
NM_001044.5(SLC6A3):c.151C>T (p.Arg51Trp) rs778617693 0.00002
NM_001044.5(SLC6A3):c.1644C>T (p.Tyr548=) rs1264236301 0.00002
NM_001044.5(SLC6A3):c.1663G>A (p.Asp555Asn) rs750854317 0.00002
NM_001044.5(SLC6A3):c.1736A>G (p.Lys579Arg) rs373070875 0.00002
NM_001044.5(SLC6A3):c.1838C>T (p.Thr613Met) rs372722904 0.00002
NM_001044.5(SLC6A3):c.287-16C>A rs752277056 0.00002
NM_001044.5(SLC6A3):c.42G>T (p.Val14=) rs767919132 0.00002
NM_001044.5(SLC6A3):c.471C>T (p.Asn157=) rs755940757 0.00002
NM_001044.5(SLC6A3):c.615C>T (p.Asn205=) rs764540812 0.00002
NM_001044.5(SLC6A3):c.642C>T (p.Ala214=) rs369766460 0.00002
NM_001044.5(SLC6A3):c.661G>A (p.Val221Met) rs138948519 0.00002
NM_001282684.2(KCTD17):c.486+20G>A rs372989339 0.00002
NM_003690.5(PRKRA):c.335C>G (p.Pro112Arg) rs151157679 0.00002
NM_003690.5(PRKRA):c.704G>C (p.Ser235Thr) rs756005650 0.00002
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln) rs764696852 0.00002
NM_003919.3(SGCE):c.1027C>T (p.Arg343Trp) rs757796461 0.00002
NM_003919.3(SGCE):c.1074G>A (p.Leu358=) rs983297904 0.00002
NM_003919.3(SGCE):c.109+15C>T rs747205304 0.00002
NM_003919.3(SGCE):c.1310C>T (p.Pro437Leu) rs778866625 0.00002
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn) rs199787155 0.00002
NM_003919.3(SGCE):c.421_423dup (p.Thr141dup) rs539327067 0.00002
NM_003919.3(SGCE):c.555C>T (p.Gly185=) rs768286622 0.00002
NM_003919.3(SGCE):c.591C>T (p.Asn197=) rs372968907 0.00002
NM_003919.3(SGCE):c.5A>C (p.Gln2Pro) rs755191122 0.00002
NM_003919.3(SGCE):c.693G>A (p.Pro231=) rs757206832 0.00002
NM_003919.3(SGCE):c.716T>C (p.Val239Ala) rs142833106 0.00002
NM_003919.3(SGCE):c.972C>T (p.Pro324=) rs1490533382 0.00002
NM_006516.4(SLC2A1):c.*285C>T rs144947295 0.00002
NM_006516.4(SLC2A1):c.*514G>T rs886046339 0.00002
NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln) rs892715050 0.00002
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser) rs796053245 0.00002
NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=) rs145962512 0.00002
NM_006516.4(SLC2A1):c.1278+9C>G rs550156548 0.00002
NM_006516.4(SLC2A1):c.136C>G (p.Gln46Glu) rs754791604 0.00002
NM_006516.4(SLC2A1):c.1445T>C (p.Leu482Pro) rs748340730 0.00002
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser) rs765479065 0.00002
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met) rs74323945 0.00002
NM_006516.4(SLC2A1):c.495C>T (p.Val165=) rs181115612 0.00002
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) rs397514564 0.00002
NM_006516.4(SLC2A1):c.708C>T (p.Asp236=) rs566497194 0.00002
NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys) rs766376173 0.00002
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=) rs201996220 0.00002
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=) rs776461617 0.00002
NM_006516.4(SLC2A1):c.946G>A (p.Val316Ile) rs920394412 0.00002
NM_006516.4(SLC2A1):c.967G>A (p.Val323Met) rs749426767 0.00002
NM_015488.4(PNKD):c.-79C>A rs886055618 0.00002
NM_015488.5(PNKD):c.*1216G>A rs999439159 0.00002
NM_015488.5(PNKD):c.*253C>T rs1456301565 0.00002
NM_015488.5(PNKD):c.1047G>A (p.Ala349=) rs575546377 0.00002
NM_015488.5(PNKD):c.1116G>A (p.Leu372=) rs1237935847 0.00002
NM_015488.5(PNKD):c.1129C>T (p.Arg377Trp) rs377569724 0.00002
NM_015488.5(PNKD):c.1130G>A (p.Arg377Gln) rs148141539 0.00002
NM_015488.5(PNKD):c.129C>T (p.Ser43=) rs199629886 0.00002
NM_015488.5(PNKD):c.237-10C>T rs201618527 0.00002
NM_015488.5(PNKD):c.246G>A (p.Leu82=) rs145583175 0.00002
NM_015488.5(PNKD):c.341G>A (p.Arg114His) rs781140528 0.00002
NM_015488.5(PNKD):c.357G>A (p.Val119=) rs1303377436 0.00002
NM_015488.5(PNKD):c.409G>A (p.Asp137Asn) rs139792709 0.00002
NM_015488.5(PNKD):c.454C>T (p.Arg152Trp) rs756863425 0.00002
NM_015488.5(PNKD):c.557G>A (p.Arg186Gln) rs143162613 0.00002
NM_015488.5(PNKD):c.566G>A (p.Arg189Gln) rs199987826 0.00002
NM_015488.5(PNKD):c.597C>T (p.Asp199=) rs139122042 0.00002
NM_015488.5(PNKD):c.673G>A (p.Ala225Thr) rs1459728761 0.00002
NM_015488.5(PNKD):c.698A>G (p.His233Arg) rs994484237 0.00002
NM_015488.5(PNKD):c.868+17C>A rs373858533 0.00002
NM_015488.5(PNKD):c.887A>G (p.Glu296Gly) rs202211738 0.00002
NM_015488.5(PNKD):c.970G>T (p.Glu324Ter) rs781505065 0.00002
NM_015488.5(PNKD):c.984+12G>A rs546037398 0.00002
NM_145239.3(PRRT2):c.1012+20A>G rs1421740540 0.00002
NM_145239.3(PRRT2):c.1020G>A (p.Lys340=) rs794727658 0.00002
NM_145239.3(PRRT2):c.115G>A (p.Ala39Thr) rs1263878099 0.00002
NM_145239.3(PRRT2):c.168G>A (p.Ala56=) rs749595059 0.00002
NM_145239.3(PRRT2):c.179A>C (p.Asp60Ala) rs772163627 0.00002
NM_145239.3(PRRT2):c.55A>C (p.Lys19Gln) rs775000504 0.00002
NM_145239.3(PRRT2):c.599C>G (p.Pro200Arg) rs764829321 0.00002
NM_145239.3(PRRT2):c.624C>T (p.Ser208=) rs757448392 0.00002
NM_145239.3(PRRT2):c.651A>G (p.Arg217=) rs1437924015 0.00002
NM_145239.3(PRRT2):c.880-10C>T rs577833615 0.00002
NM_145239.3(PRRT2):c.907G>A (p.Val303Met) rs774683543 0.00002
NM_145239.3(PRRT2):c.921G>C (p.Gln307His) rs376602453 0.00002
NM_145239.3(PRRT2):c.997G>A (p.Val333Ile) rs749851660 0.00002
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=) rs1353417724 0.00002
NM_152296.5(ATP1A3):c.1192+15C>T rs782209602 0.00002
NM_152296.5(ATP1A3):c.1192+3G>A rs374542368 0.00002
NM_152296.5(ATP1A3):c.1215G>A (p.Ser405=) rs374534881 0.00002
NM_152296.5(ATP1A3):c.1242C>T (p.Ile414=) rs1309536843 0.00002
NM_152296.5(ATP1A3):c.1296G>T (p.Val432=) rs781928217 0.00002
NM_152296.5(ATP1A3):c.156T>C (p.Gly52=) rs1213410717 0.00002
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=) rs148097195 0.00002
NM_152296.5(ATP1A3):c.1807-19T>C rs782302598 0.00002
NM_152296.5(ATP1A3):c.1910G>A (p.Arg637Gln) rs1555861967 0.00002
NM_152296.5(ATP1A3):c.1995C>T (p.Ser665=) rs374107131 0.00002
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931 0.00002
NM_152296.5(ATP1A3):c.2154C>T (p.Ala718=) rs782463652 0.00002
NM_152296.5(ATP1A3):c.2178C>T (p.Ile726=) rs782806766 0.00002
NM_152296.5(ATP1A3):c.2277C>T (p.Phe759=) rs782305663 0.00002
NM_152296.5(ATP1A3):c.2418+3G>A rs782778060 0.00002
NM_152296.5(ATP1A3):c.2457C>T (p.Ser819=) rs374697524 0.00002
NM_152296.5(ATP1A3):c.2492C>T (p.Thr831Met) rs782674903 0.00002
NM_152296.5(ATP1A3):c.2500T>C (p.Leu834=) rs782648382 0.00002
NM_152296.5(ATP1A3):c.251G>A (p.Arg84Gln) rs782194114 0.00002
NM_152296.5(ATP1A3):c.2592A>T (p.Ala864=) rs879984755 0.00002
NM_152296.5(ATP1A3):c.2676C>T (p.Tyr892=) rs782625641 0.00002
NM_152296.5(ATP1A3):c.2689-11C>T rs782509039 0.00002
NM_152296.5(ATP1A3):c.2819+12G>A rs782653272 0.00002
NM_152296.5(ATP1A3):c.2819+3G>A rs782555113 0.00002
NM_152296.5(ATP1A3):c.2896G>A (p.Val966Met) rs782665893 0.00002
NM_152296.5(ATP1A3):c.2907C>T (p.Arg969=) rs782611500 0.00002
NM_152296.5(ATP1A3):c.2973C>T (p.Tyr991=) rs372919447 0.00002
NM_152296.5(ATP1A3):c.3011G>T (p.Gly1004Val) rs782204932 0.00002
NM_152296.5(ATP1A3):c.54G>A (p.Glu18=) rs541121307 0.00002
NM_152296.5(ATP1A3):c.657C>T (p.Pro219=) rs181074193 0.00002
NM_152296.5(ATP1A3):c.669C>T (p.His223=) rs201584925 0.00002
NM_152296.5(ATP1A3):c.675C>T (p.Asn225=) rs1226907239 0.00002
NM_152296.5(ATP1A3):c.7-18C>T rs782562097 0.00002
NM_152296.5(ATP1A3):c.729G>A (p.Thr243=) rs374578592 0.00002
NM_152296.5(ATP1A3):c.741G>C (p.Val247=) rs767234141 0.00002
NM_152296.5(ATP1A3):c.759C>T (p.Asp253=) rs369131791 0.00002
NM_152296.5(ATP1A3):c.852C>T (p.Leu284=) rs781983476 0.00002
NM_152296.5(ATP1A3):c.897C>T (p.Leu299=) rs1485886227 0.00002
NM_152296.5(ATP1A3):c.904A>G (p.Ile302Val) rs782326264 0.00002
NM_001044.5(SLC6A3):c.1081G>A (p.Gly361Ser) rs766875221 0.00001
NM_001044.5(SLC6A3):c.1110C>T (p.Tyr370=) rs146814731 0.00001
NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu) rs267607069 0.00001
NM_001044.5(SLC6A3):c.1185G>A (p.Pro395=) rs372175437 0.00001
NM_001044.5(SLC6A3):c.1200G>A (p.Thr400=) rs199564835 0.00001
NM_001044.5(SLC6A3):c.1269+1G>A rs431905504 0.00001
NM_001044.5(SLC6A3):c.129C>T (p.Thr43=) rs1179801580 0.00001
NM_001044.5(SLC6A3):c.1335T>G (p.Arg445=) rs762754512 0.00001
NM_001044.5(SLC6A3):c.1350C>T (p.Leu450=) rs1373372460 0.00001
NM_001044.5(SLC6A3):c.1398+4C>T rs567904721 0.00001
NM_001044.5(SLC6A3):c.1411G>A (p.Val471Ile) rs75916702 0.00001
NM_001044.5(SLC6A3):c.1479C>T (p.Ile493=) rs764518683 0.00001
NM_001044.5(SLC6A3):c.1499-14C>T rs774641284 0.00001
NM_001044.5(SLC6A3):c.152G>A (p.Arg51Gln) rs774827862 0.00001
NM_001044.5(SLC6A3):c.1544G>A (p.Arg515Gln) rs1236294203 0.00001
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp) rs431905516 0.00001
NM_001044.5(SLC6A3):c.1599+13G>A rs763612604 0.00001
NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met) rs553219765 0.00001
NM_001044.5(SLC6A3):c.163G>A (p.Val55Met) rs751986313 0.00001
NM_001044.5(SLC6A3):c.1771C>T (p.Leu591=) rs376015219 0.00001
NM_001044.5(SLC6A3):c.1783A>G (p.Ile595Val) rs758010586 0.00001
NM_001044.5(SLC6A3):c.1825G>A (p.Val609Met) rs1176423145 0.00001
NM_001044.5(SLC6A3):c.1844G>A (p.Arg615His) rs750470875 0.00001
NM_001044.5(SLC6A3):c.216C>T (p.Ser72=) rs373050350 0.00001
NM_001044.5(SLC6A3):c.285C>T (p.Gly95=) rs201707183 0.00001
NM_001044.5(SLC6A3):c.375G>A (p.Arg125=) rs772708278 0.00001
NM_001044.5(SLC6A3):c.40G>A (p.Val14Met) rs190367530 0.00001
NM_001044.5(SLC6A3):c.419-6C>T rs540824168 0.00001
NM_001044.5(SLC6A3):c.431C>T (p.Thr144Met) rs746715018 0.00001
NM_001044.5(SLC6A3):c.448C>G (p.Leu150Val) rs778416596 0.00001
NM_001044.5(SLC6A3):c.450G>A (p.Leu150=) rs757203667 0.00001
NM_001044.5(SLC6A3):c.472G>A (p.Val158Ile) rs543317006 0.00001
NM_001044.5(SLC6A3):c.48C>A (p.Ala16=) rs762569986 0.00001
NM_001044.5(SLC6A3):c.569C>T (p.Ser190Leu) rs1483254325 0.00001
NM_001044.5(SLC6A3):c.574G>A (p.Ala192Thr) rs200132776 0.00001
NM_001044.5(SLC6A3):c.594T>G (p.Ser198Arg) rs780048733 0.00001
NM_001044.5(SLC6A3):c.625G>A (p.Gly209Arg) rs372788698 0.00001
NM_001044.5(SLC6A3):c.656G>A (p.Arg219His) rs753109365 0.00001
NM_001044.5(SLC6A3):c.707C>T (p.Pro236Leu) rs760467074 0.00001
NM_001044.5(SLC6A3):c.732G>C (p.Leu244=) rs771007893 0.00001
NM_001044.5(SLC6A3):c.742A>G (p.Ile248Val) rs1365255948 0.00001
NM_001044.5(SLC6A3):c.82G>C (p.Glu28Gln) rs866199902 0.00001
NM_001044.5(SLC6A3):c.911G>A (p.Arg304Gln) rs748308614 0.00001
NM_001044.5(SLC6A3):c.915C>A (p.Leu305=) rs200732142 0.00001
NM_001044.5(SLC6A3):c.918C>T (p.Cys306=) rs746199611 0.00001
NM_001044.5(SLC6A3):c.935T>C (p.Ile312Thr) rs1756287215 0.00001
NM_001282684.2(KCTD17):c.-10G>A rs1924496959 0.00001
NM_001282684.2(KCTD17):c.17G>A (p.Gly6Glu) rs1158242201 0.00001
NM_001282684.2(KCTD17):c.255C>G (p.Leu85=) rs147970401 0.00001
NM_001282684.2(KCTD17):c.299G>C (p.Gly100Ala) rs750023360 0.00001
NM_001282684.2(KCTD17):c.41C>T (p.Ala14Val) rs1300974634 0.00001
NM_001282684.2(KCTD17):c.444G>A (p.Thr148=) rs750621399 0.00001
NM_001282684.2(KCTD17):c.522C>T (p.Ser174=) rs577803443 0.00001
NM_001282684.2(KCTD17):c.569G>C (p.Ser190Thr) rs144682183 0.00001
NM_001282684.2(KCTD17):c.688G>T (p.Val230Leu) rs1258843342 0.00001
NM_001282684.2(KCTD17):c.854G>A (p.Arg285His) rs765037421 0.00001
NM_001282684.2(KCTD17):c.856C>G (p.Pro286Ala) rs371676360 0.00001
NM_001282684.2(KCTD17):c.875+14C>T rs754430753 0.00001
NM_001282684.2(KCTD17):c.93G>A (p.Gly31=) rs956007175 0.00001
NM_003690.5(PRKRA):c.-117C>T rs886055204 0.00001
NM_003690.5(PRKRA):c.-141C>A rs1395280729 0.00001
NM_003690.5(PRKRA):c.397-3T>C rs200249113 0.00001
NM_003690.5(PRKRA):c.397-6T>G rs1031316165 0.00001
NM_003690.5(PRKRA):c.40G>A (p.Glu14Lys) rs933550231 0.00001
NM_003690.5(PRKRA):c.611C>G (p.Thr204Arg) rs1351253817 0.00001
NM_003690.5(PRKRA):c.766A>G (p.Ile256Val) rs769913085 0.00001
NM_003690.5(PRKRA):c.77T>A (p.Met26Lys) rs755656753 0.00001
NM_003690.5(PRKRA):c.792G>C (p.Leu264=) rs750650286 0.00001
NM_003690.5(PRKRA):c.800A>G (p.Asn267Ser) rs557879457 0.00001
NM_003690.5(PRKRA):c.80T>C (p.Ile27Thr) rs780703241 0.00001
NM_003690.5(PRKRA):c.902A>G (p.Asn301Ser) rs778511975 0.00001
NM_003919.3(SGCE):c.1015A>G (p.Met339Val) rs866020566 0.00001
NM_003919.3(SGCE):c.1028G>A (p.Arg343Gln) rs755083075 0.00001
NM_003919.3(SGCE):c.1038-4C>T rs745484720 0.00001
NM_003919.3(SGCE):c.1038-7T>C rs1158265768 0.00001
NM_003919.3(SGCE):c.1051A>G (p.Met351Val) rs1206683317 0.00001
NM_003919.3(SGCE):c.1054C>A (p.Gln352Lys) rs1562803158 0.00001
NM_003919.3(SGCE):c.1063G>C (p.Asp355His) rs1798915911 0.00001
NM_003919.3(SGCE):c.1064+16C>A rs951428613 0.00001
NM_003919.3(SGCE):c.1064+5G>C rs767951166 0.00001
NM_003919.3(SGCE):c.1065-2A>G rs368043832 0.00001
NM_003919.3(SGCE):c.1065-3T>C rs965437968 0.00001
NM_003919.3(SGCE):c.109+17C>A rs1471421199 0.00001
NM_003919.3(SGCE):c.110-9T>C rs781152122 0.00001
NM_003919.3(SGCE):c.1109A>G (p.Glu370Gly) rs781699232 0.00001
NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter) rs121908492 0.00001
NM_003919.3(SGCE):c.1115G>A (p.Arg372Gln) rs373904456 0.00001
NM_003919.3(SGCE):c.1176T>C (p.Pro392=) rs769125810 0.00001
NM_003919.3(SGCE):c.11C>T (p.Pro4Leu) rs372207991 0.00001
NM_003919.3(SGCE):c.1237T>C (p.Leu413=) rs147387740 0.00001
NM_003919.3(SGCE):c.1247C>T (p.Thr416Met) rs560154922 0.00001
NM_003919.3(SGCE):c.1253+15A>G rs1262368056 0.00001
NM_003919.3(SGCE):c.1275G>C (p.Gln425His) rs762720842 0.00001
NM_003919.3(SGCE):c.1285C>G (p.Gln429Glu) rs371568101 0.00001
NM_003919.3(SGCE):c.135C>T (p.His45=) rs1394843820 0.00001
NM_003919.3(SGCE):c.13C>G (p.Arg5Gly) rs966640985 0.00001
NM_003919.3(SGCE):c.147T>G (p.Asn49Lys) rs772230342 0.00001
NM_003919.3(SGCE):c.194A>T (p.Glu65Val) rs1804379561 0.00001
NM_003919.3(SGCE):c.19T>C (p.Trp7Arg) rs1271444866 0.00001
NM_003919.3(SGCE):c.220T>C (p.Tyr74His) rs1804372933 0.00001
NM_003919.3(SGCE):c.232+4T>C rs372244157 0.00001
NM_003919.3(SGCE):c.241A>G (p.Ser81Gly) rs758164053 0.00001
NM_003919.3(SGCE):c.24G>C (p.Glu8Asp) rs1808633312 0.00001
NM_003919.3(SGCE):c.283C>T (p.Pro95Ser) rs1187045400 0.00001
NM_003919.3(SGCE):c.290G>A (p.Arg97Gln) rs11548285 0.00001
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter) rs121908490 0.00001
NM_003919.3(SGCE):c.351C>T (p.Ser117=) rs1804066636 0.00001
NM_003919.3(SGCE):c.358G>A (p.Ala120Thr) rs1234121565 0.00001
NM_003919.3(SGCE):c.45G>A (p.Trp15Ter) rs1295669429 0.00001
NM_003919.3(SGCE):c.463+19T>G rs759488852 0.00001
NM_003919.3(SGCE):c.500A>G (p.Lys167Arg) rs779127500 0.00001
NM_003919.3(SGCE):c.547T>C (p.Phe183Leu) rs1003818215 0.00001
NM_003919.3(SGCE):c.556G>A (p.Ala186Thr) rs746585235 0.00001
NM_003919.3(SGCE):c.584G>A (p.Arg195His) rs746331571 0.00001
NM_003919.3(SGCE):c.597A>G (p.Ile199Met) rs777920643 0.00001
NM_003919.3(SGCE):c.617A>G (p.Asp206Gly) rs727504150 0.00001
NM_003919.3(SGCE):c.618C>T (p.Asp206=) rs1196762234 0.00001
NM_003919.3(SGCE):c.656A>T (p.Lys219Met) rs1802319616 0.00001
NM_003919.3(SGCE):c.664G>A (p.Val222Ile) rs754956483 0.00001
NM_003919.3(SGCE):c.704G>C (p.Cys235Ser) rs958186178 0.00001
NM_003919.3(SGCE):c.711A>G (p.Arg237=) rs1193322554 0.00001
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer) rs794727794 0.00001
NM_003919.3(SGCE):c.77G>A (p.Ser26Asn) rs773531358 0.00001
NM_003919.3(SGCE):c.799T>A (p.Tyr267Asn) rs781326840 0.00001
NM_003919.3(SGCE):c.850A>G (p.Thr284Ala) rs986900959 0.00001
NM_003919.3(SGCE):c.856C>G (p.Gln286Glu) rs775468466 0.00001
NM_003919.3(SGCE):c.864G>A (p.Val288=) rs772144979 0.00001
NM_003919.3(SGCE):c.879G>A (p.Gly293=) rs781005887 0.00001
NM_003919.3(SGCE):c.884T>C (p.Leu295Ser) rs142079200 0.00001
NM_003919.3(SGCE):c.892G>A (p.Gly298Ser) rs757835571 0.00001
NM_003919.3(SGCE):c.909C>T (p.Pro303=) rs764483578 0.00001
NM_003919.3(SGCE):c.945G>A (p.Thr315=) rs539333988 0.00001
NM_003919.3(SGCE):c.94A>G (p.Thr32Ala) rs955348597 0.00001
NM_003919.3(SGCE):c.960A>C (p.Thr320=) rs774546647 0.00001
NM_003919.3(SGCE):c.967G>A (p.Val323Met) rs147550814 0.00001
NM_003919.3(SGCE):c.96A>G (p.Thr32=) rs1034414453 0.00001
NM_003919.3(SGCE):c.974C>T (p.Ser325Leu) rs559353446 0.00001
NM_003919.3(SGCE):c.9G>A (p.Leu3=) rs751698983 0.00001
NM_004984.4(KIF5A):c.2767C>T (p.Arg923Trp) rs1231571339 0.00001
NM_006516.4(SLC2A1):c.*107G>A rs1643432524 0.00001
NM_006516.4(SLC2A1):c.*1205C>T rs886046331 0.00001
NM_006516.4(SLC2A1):c.*1321T>A rs1222650517 0.00001
NM_006516.4(SLC2A1):c.*775A>G rs779010320 0.00001
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=) rs372092107 0.00001
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr) rs780529723 0.00001
NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=) rs748983257 0.00001
NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=) rs755679518 0.00001
NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=) rs758184335 0.00001
NM_006516.4(SLC2A1):c.1152C>T (p.Gly384=) rs750237005 0.00001
NM_006516.4(SLC2A1):c.1171G>A (p.Val391Met) rs764168088 0.00001
NM_006516.4(SLC2A1):c.123G>A (p.Glu41=) rs769414573 0.00001
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile) rs200819771 0.00001
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His) rs201748668 0.00001
NM_006516.4(SLC2A1):c.1418G>A (p.Ser473Asn) rs774241047 0.00001
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His) rs201815571 0.00001
NM_006516.4(SLC2A1):c.189G>A (p.Thr63=) rs766043826 0.00001
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=) rs762583668 0.00001
NM_006516.4(SLC2A1):c.266G>A (p.Arg89His) rs370031715 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_006516.4(SLC2A1):c.318C>T (p.Ser106=) rs760599149 0.00001
NM_006516.4(SLC2A1):c.31C>T (p.Arg11Cys) rs1333609390 0.00001
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val) rs1399284513 0.00001
NM_006516.4(SLC2A1):c.338C>T (p.Ser113Leu) rs774348625 0.00001
NM_006516.4(SLC2A1):c.374G>C (p.Gly125Ala) rs781521534 0.00001
NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala) rs987202561 0.00001
NM_006516.4(SLC2A1):c.492C>T (p.Ile164=) rs759617721 0.00001
NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr) rs1017082606 0.00001
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly) rs1050933017 0.00001
NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys) rs1387203768 0.00001
NM_006516.4(SLC2A1):c.679+5G>A rs771386274 0.00001
NM_006516.4(SLC2A1):c.680-10G>T rs587784394 0.00001
NM_006516.4(SLC2A1):c.680-16C>T rs752942175 0.00001
NM_006516.4(SLC2A1):c.696C>T (p.Arg232=) rs770293853 0.00001
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg) rs375853334 0.00001
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu) rs1302959508 0.00001
NM_006516.4(SLC2A1):c.907G>T (p.Val303Leu) rs1205631854 0.00001
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=) rs775408842 0.00001
NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met) rs746091725 0.00001
NM_006516.4(SLC2A1):c.957C>A (p.Ala319=) rs1643460439 0.00001
NM_006516.4(SLC2A1):c.991G>A (p.Ala331Thr) rs1040371265 0.00001
NM_015488.5(PNKD):c.*1476A>G rs886055623 0.00001
NM_015488.5(PNKD):c.*1569C>T rs1694830978 0.00001
NM_015488.5(PNKD):c.*311G>T rs535683095 0.00001
NM_015488.5(PNKD):c.*33C>T rs766072633 0.00001
NM_015488.5(PNKD):c.*838C>T rs560187472 0.00001
NM_015488.5(PNKD):c.*982C>T rs140903787 0.00001
NM_015488.5(PNKD):c.1006G>T (p.Glu336Ter) rs754136722 0.00001
NM_015488.5(PNKD):c.1067C>T (p.Pro356Leu) rs1553516179 0.00001
NM_015488.5(PNKD):c.1073C>T (p.Pro358Leu) rs1161443837 0.00001
NM_015488.5(PNKD):c.1074G>A (p.Pro358=) rs148953301 0.00001
NM_015488.5(PNKD):c.108C>T (p.Asn36=) rs1454822881 0.00001
NM_015488.5(PNKD):c.1105G>T (p.Ala369Ser) rs1233192096 0.00001
NM_015488.5(PNKD):c.1112T>C (p.Leu371Pro) rs777859269 0.00001
NM_015488.5(PNKD):c.1127G>A (p.Arg376His) rs781473009 0.00001
NM_015488.5(PNKD):c.1146C>G (p.His382Gln) rs1157053840 0.00001
NM_015488.5(PNKD):c.1149G>T (p.Lys383Asn) rs760423147 0.00001
NM_015488.5(PNKD):c.1153A>G (p.Lys385Glu) rs1299480252 0.00001
NM_015488.5(PNKD):c.139C>T (p.Pro47Ser) rs999745118 0.00001
NM_015488.5(PNKD):c.142G>A (p.Glu48Lys) rs1318681160 0.00001
NM_015488.5(PNKD):c.14T>G (p.Val5Gly) rs1574614834 0.00001
NM_015488.5(PNKD):c.150G>A (p.Lys50=) rs371649118 0.00001
NM_015488.5(PNKD):c.173C>T (p.Pro58Leu) rs376689739 0.00001
NM_015488.5(PNKD):c.189T>C (p.Ile63=) rs146100906 0.00001
NM_015488.5(PNKD):c.204C>T (p.Gly68=) rs765261684 0.00001
NM_015488.5(PNKD):c.253C>T (p.Arg85Cys) rs769375770 0.00001
NM_015488.5(PNKD):c.280C>T (p.Arg94Ter) rs754138242 0.00001
NM_015488.5(PNKD):c.307C>T (p.Arg103Cys) rs1157911601 0.00001
NM_015488.5(PNKD):c.308G>A (p.Arg103His) rs768336954 0.00001
NM_015488.5(PNKD):c.326C>T (p.Ser109Leu) rs985467569 0.00001
NM_015488.5(PNKD):c.370A>G (p.Ile124Val) rs909331529 0.00001
NM_015488.5(PNKD):c.383C>T (p.Ser128Leu) rs200782799 0.00001
NM_015488.5(PNKD):c.391T>C (p.Tyr131His) rs1353463061 0.00001
NM_015488.5(PNKD):c.39G>C (p.Arg13=) rs1391955842 0.00001
NM_015488.5(PNKD):c.404T>C (p.Ile135Thr) rs1292612483 0.00001
NM_015488.5(PNKD):c.419C>T (p.Ala140Val) rs766237012 0.00001
NM_015488.5(PNKD):c.431T>G (p.Val144Gly) rs533028105 0.00001
NM_015488.5(PNKD):c.466-4G>A rs1383461623 0.00001
NM_015488.5(PNKD):c.466-9C>T rs765454285 0.00001
NM_015488.5(PNKD):c.476A>T (p.Glu159Val) rs758928375 0.00001
NM_015488.5(PNKD):c.499G>A (p.Ala167Thr) rs1219443955 0.00001
NM_015488.5(PNKD):c.524+18T>C rs747704832 0.00001
NM_015488.5(PNKD):c.525-10T>C rs1339930032 0.00001
NM_015488.5(PNKD):c.533G>A (p.Ser178Asn) rs147885219 0.00001
NM_015488.5(PNKD):c.543C>T (p.Asn181=) rs761712009 0.00001
NM_015488.5(PNKD):c.544C>T (p.Arg182Cys) rs1401462536 0.00001
NM_015488.5(PNKD):c.551T>C (p.Leu184Pro) rs1243303171 0.00001
NM_015488.5(PNKD):c.574C>T (p.Arg192Trp) rs758791360 0.00001
NM_015488.5(PNKD):c.579G>T (p.Val193=) rs1378240041 0.00001
NM_015488.5(PNKD):c.583G>A (p.Gly195Arg) rs554148467 0.00001
NM_015488.5(PNKD):c.618-16C>T rs778946483 0.00001
NM_015488.5(PNKD):c.618-9G>A rs531697897 0.00001
NM_015488.5(PNKD):c.618T>A (p.His206Gln) rs776176020 0.00001
NM_015488.5(PNKD):c.61C>T (p.Leu21Phe) rs758101708 0.00001
NM_015488.5(PNKD):c.639G>T (p.Val213=) rs764570137 0.00001
NM_015488.5(PNKD):c.646G>A (p.Val216Met) rs771841680 0.00001
NM_015488.5(PNKD):c.65G>A (p.Arg22Gln) rs878855015 0.00001
NM_015488.5(PNKD):c.67+15C>A rs746524295 0.00001
NM_015488.5(PNKD):c.679C>G (p.Pro227Ala) rs1360064508 0.00001
NM_015488.5(PNKD):c.67G>A (p.Gly23Arg) rs901028645 0.00001
NM_015488.5(PNKD):c.68-7T>C rs1317927434 0.00001
NM_015488.5(PNKD):c.691C>A (p.Gln231Lys) rs781010423 0.00001
NM_015488.5(PNKD):c.69G>A (p.Gly23=) rs761897018 0.00001
NM_015488.5(PNKD):c.708C>A (p.Tyr236Ter) rs1025922436 0.00001
NM_015488.5(PNKD):c.754G>T (p.Gly252Trp) rs1166017790 0.00001
NM_015488.5(PNKD):c.781+5G>C rs757255934 0.00001
NM_015488.5(PNKD):c.782-19C>T rs779635681 0.00001
NM_015488.5(PNKD):c.782-7C>G rs773884627 0.00001
NM_015488.5(PNKD):c.784C>T (p.Arg262Trp) rs777091882 0.00001
NM_015488.5(PNKD):c.83C>G (p.Ala28Gly) rs767828489 0.00001
NM_015488.5(PNKD):c.854C>A (p.Thr285Asn) rs754573542 0.00001
NM_015488.5(PNKD):c.873T>C (p.His291=) rs1383953923 0.00001
NM_015488.5(PNKD):c.915G>C (p.Glu305Asp) rs201068431 0.00001
NM_015488.5(PNKD):c.918C>T (p.Pro306=) rs780334841 0.00001
NM_015488.5(PNKD):c.931C>T (p.Arg311Trp) rs761896240 0.00001
NM_015488.5(PNKD):c.955C>T (p.Gln319Ter) rs765048900 0.00001
NM_015488.5(PNKD):c.958C>T (p.Arg320Trp) rs1009710207 0.00001
NM_015488.5(PNKD):c.965G>A (p.Arg322Gln) rs756826546 0.00001
NM_015488.5(PNKD):c.974G>A (p.Arg325His) rs756621298 0.00001
NM_015488.5(PNKD):c.97G>C (p.Ala33Pro) rs121434513 0.00001
NM_015488.5(PNKD):c.985-9C>T rs568589204 0.00001
NM_015488.5(PNKD):c.998T>G (p.Leu333Arg) rs1005386085 0.00001
NM_145239.3(PRRT2):c.1011C>T (p.Gly337=) rs745970212 0.00001
NM_145239.3(PRRT2):c.1016A>G (p.Tyr339Cys) rs1596895035 0.00001
NM_145239.3(PRRT2):c.108G>C (p.Gln36His) rs764412207 0.00001
NM_145239.3(PRRT2):c.125C>T (p.Pro42Leu) rs1166053009 0.00001
NM_145239.3(PRRT2):c.144G>A (p.Pro48=) rs1192918667 0.00001
NM_145239.3(PRRT2):c.14G>C (p.Ser5Thr) rs745742339 0.00001
NM_145239.3(PRRT2):c.192G>A (p.Lys64=) rs1422649070 0.00001
NM_145239.3(PRRT2):c.19G>A (p.Glu7Lys) rs1215479164 0.00001
NM_145239.3(PRRT2):c.201G>A (p.Leu67=) rs1416186042 0.00001
NM_145239.3(PRRT2):c.232G>C (p.Ala78Pro) rs1239520299 0.00001
NM_145239.3(PRRT2):c.272C>T (p.Pro91Leu) rs1299020662 0.00001
NM_145239.3(PRRT2):c.31A>T (p.Met11Leu) rs746699261 0.00001
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs) rs886042013 0.00001
NM_145239.3(PRRT2):c.32T>C (p.Met11Thr) rs796052942 0.00001
NM_145239.3(PRRT2):c.347A>T (p.Lys116Ile) rs201468618 0.00001
NM_145239.3(PRRT2):c.357T>G (p.Thr119=) rs137942866 0.00001
NM_145239.3(PRRT2):c.368G>A (p.Gly123Glu) rs758798693 0.00001
NM_145239.3(PRRT2):c.381G>A (p.Glu127=) rs747609927 0.00001
NM_145239.3(PRRT2):c.431C>T (p.Pro144Leu) rs1317648011 0.00001
NM_145239.3(PRRT2):c.446A>C (p.Gln149Pro) rs1183608934 0.00001
NM_145239.3(PRRT2):c.455C>A (p.Pro152His) rs760278435 0.00001
NM_145239.3(PRRT2):c.455C>G (p.Pro152Arg) rs760278435 0.00001
NM_145239.3(PRRT2):c.464C>G (p.Ala155Gly) rs1053329743 0.00001
NM_145239.3(PRRT2):c.465C>T (p.Ala155=) rs753596889 0.00001
NM_145239.3(PRRT2):c.46G>A (p.Glu16Lys) rs777959783 0.00001
NM_145239.3(PRRT2):c.472C>T (p.Pro158Ser) rs766816688 0.00001
NM_145239.3(PRRT2):c.483T>C (p.Pro161=) rs751980660 0.00001
NM_145239.3(PRRT2):c.485C>T (p.Thr162Ile) rs755440222 0.00001
NM_145239.3(PRRT2):c.490G>A (p.Glu164Lys) rs752707110 0.00001
NM_145239.3(PRRT2):c.493G>A (p.Asp165Asn) rs1319381076 0.00001
NM_145239.3(PRRT2):c.522T>G (p.Ser174Arg) rs777955072 0.00001
NM_145239.3(PRRT2):c.528G>A (p.Gly176=) rs749569594 0.00001
NM_145239.3(PRRT2):c.547G>C (p.Ala183Pro) rs770599131 0.00001
NM_145239.3(PRRT2):c.641C>G (p.Ala214Gly) rs1299324384 0.00001
NM_145239.3(PRRT2):c.648C>G (p.Pro216=) rs772805935 0.00001
NM_145239.3(PRRT2):c.650G>A (p.Arg217Gln) rs75497546 0.00001
NM_145239.3(PRRT2):c.66C>T (p.Gly22=) rs775756146 0.00001
NM_145239.3(PRRT2):c.674A>C (p.Glu225Ala) rs1057518890 0.00001
NM_145239.3(PRRT2):c.679C>G (p.Arg227Gly) rs370732306 0.00001
NM_145239.3(PRRT2):c.680G>A (p.Arg227Gln) rs200849527 0.00001
NM_145239.3(PRRT2):c.698G>A (p.Ser233Asn) rs757291225 0.00001
NM_145239.3(PRRT2):c.708A>G (p.Pro236=) rs186826225 0.00001
NM_145239.3(PRRT2):c.731G>A (p.Ser244Asn) rs1451315262 0.00001
NM_145239.3(PRRT2):c.753G>A (p.Leu251=) rs770596922 0.00001
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp) rs387907128 0.00001
NM_145239.3(PRRT2):c.808A>G (p.Ile270Val) rs1383421303 0.00001
NM_145239.3(PRRT2):c.834C>T (p.Cys278=) rs758654999 0.00001
NM_145239.3(PRRT2):c.855C>T (p.Ile285=) rs1379925566 0.00001
NM_145239.3(PRRT2):c.856G>A (p.Val286Met) rs751344101 0.00001
NM_145239.3(PRRT2):c.85G>A (p.Glu29Lys) rs1555502574 0.00001
NM_145239.3(PRRT2):c.866C>T (p.Ala289Val) rs1446585759 0.00001
NM_145239.3(PRRT2):c.879+10A>G rs755614436 0.00001
NM_145239.3(PRRT2):c.879+8C>T rs748085126 0.00001
NM_145239.3(PRRT2):c.880-11C>T rs769037377 0.00001
NM_145239.3(PRRT2):c.880-34G>A rs1239450803 0.00001
NM_145239.3(PRRT2):c.883C>T (p.Arg295Trp) rs200185554 0.00001
NM_145239.3(PRRT2):c.912C>T (p.Asp304=) rs759633234 0.00001
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) rs767799831 0.00001
NM_145239.3(PRRT2):c.923G>A (p.Arg308His) rs989894169 0.00001
NM_145239.3(PRRT2):c.936A>T (p.Val312=) rs1057520864 0.00001
NM_145239.3(PRRT2):c.955G>T (p.Val319Leu) rs945627261 0.00001
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val) rs1301400509 0.00001
NM_145239.3(PRRT2):c.966G>T (p.Val322=) rs749980796 0.00001
NM_145239.3(PRRT2):c.990C>T (p.Ala330=) rs1322978278 0.00001
NM_145239.3(PRRT2):c.996C>T (p.Cys332=) rs778400762 0.00001
NM_152296.5(ATP1A3):c.1027C>T (p.Arg343Trp) rs782423325 0.00001
NM_152296.5(ATP1A3):c.1051C>T (p.Leu351=) rs782341271 0.00001
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=) rs370511776 0.00001
NM_152296.5(ATP1A3):c.1110C>G (p.Thr370=) rs1555863662 0.00001
NM_152296.5(ATP1A3):c.1164C>T (p.His388=) rs201446077 0.00001
NM_152296.5(ATP1A3):c.1193-5C>T rs782633348 0.00001
NM_152296.5(ATP1A3):c.1197C>T (p.Thr399=) rs781903799 0.00001
NM_152296.5(ATP1A3):c.1206C>T (p.Asp402=) rs572012327 0.00001
NM_152296.5(ATP1A3):c.1218C>T (p.His406=) rs1238469762 0.00001
NM_152296.5(ATP1A3):c.1258C>T (p.Arg420Cys) rs1318364500 0.00001
NM_152296.5(ATP1A3):c.1261G>A (p.Ala421Thr) rs782154735 0.00001
NM_152296.5(ATP1A3):c.128G>A (p.Arg43Gln) rs782453913 0.00001
NM_152296.5(ATP1A3):c.1303-15C>A rs782749835 0.00001
NM_152296.5(ATP1A3):c.1312G>A (p.Ala438Thr) rs782711218 0.00001
NM_152296.5(ATP1A3):c.1333G>T (p.Ala445Ser) rs1555863376 0.00001
NM_152296.5(ATP1A3):c.1344G>A (p.Lys448=) rs149547406 0.00001
NM_152296.5(ATP1A3):c.1350C>T (p.Ile450=) rs559103129 0.00001
NM_152296.5(ATP1A3):c.1388G>A (p.Arg463His) rs782499746 0.00001
NM_152296.5(ATP1A3):c.1437+16C>T rs369870482 0.00001
NM_152296.5(ATP1A3):c.1455C>T (p.Thr485=) rs372153087 0.00001
NM_152296.5(ATP1A3):c.1472A>G (p.Asn491Ser) rs782775696 0.00001
NM_152296.5(ATP1A3):c.1474C>G (p.Arg492Gly) rs1254049182 0.00001
NM_152296.5(ATP1A3):c.1519C>T (p.Arg507Cys) rs749776123 0.00001
NM_152296.5(ATP1A3):c.153+7C>T rs782082118 0.00001
NM_152296.5(ATP1A3):c.154-20G>T rs782526131 0.00001
NM_152296.5(ATP1A3):c.1563C>A (p.Asp521Glu) rs368551273 0.00001
NM_152296.5(ATP1A3):c.1631-12C>T rs1555862173 0.00001
NM_152296.5(ATP1A3):c.1654G>C (p.Glu552Gln) rs367904817 0.00001
NM_152296.5(ATP1A3):c.165C>T (p.His55=) rs781881410 0.00001
NM_152296.5(ATP1A3):c.1683C>T (p.Phe561=) rs781866390 0.00001
NM_152296.5(ATP1A3):c.1698G>A (p.Val566=) rs2075193265 0.00001
NM_152296.5(ATP1A3):c.1705A>G (p.Thr569Ala) rs1555862136 0.00001
NM_152296.5(ATP1A3):c.1707C>A (p.Thr569=) rs782081809 0.00001
NM_152296.5(ATP1A3):c.1710G>A (p.Thr570=) rs781840505 0.00001
NM_152296.5(ATP1A3):c.1746C>T (p.Ile582=) rs781992944 0.00001
NM_152296.5(ATP1A3):c.1758G>C (p.Arg586=) rs977103188 0.00001
NM_152296.5(ATP1A3):c.1794C>T (p.Ser598=) rs782409824 0.00001
NM_152296.5(ATP1A3):c.1806+10G>A rs782300402 0.00001
NM_152296.5(ATP1A3):c.1806+12G>A rs1555862070 0.00001
NM_152296.5(ATP1A3):c.1807-14A>C rs1477588682 0.00001
NM_152296.5(ATP1A3):c.1839G>A (p.Thr613=) rs376852509 0.00001
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=) rs781822752 0.00001
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) rs782744167 0.00001
NM_152296.5(ATP1A3):c.190C>T (p.Arg64Trp) rs1203339638 0.00001
NM_152296.5(ATP1A3):c.1930C>G (p.Gln644Glu) rs1555861946 0.00001
NM_152296.5(ATP1A3):c.1942C>T (p.Arg648Trp) rs1555861935 0.00001
NM_152296.5(ATP1A3):c.1944-19C>A rs1555861379 0.00001
NM_152296.5(ATP1A3):c.1973C>T (p.Thr658Ile) rs1241113172 0.00001
NM_152296.5(ATP1A3):c.2007C>T (p.Asp669=) rs782626986 0.00001
NM_152296.5(ATP1A3):c.2009A>G (p.Glu670Gly) rs2075172328 0.00001
NM_152296.5(ATP1A3):c.201T>C (p.Pro67=) rs782752541 0.00001
NM_152296.5(ATP1A3):c.2025C>T (p.His675=) rs1394039204 0.00001
NM_152296.5(ATP1A3):c.2028C>T (p.Thr676=) rs782556831 0.00001
NM_152296.5(ATP1A3):c.2052C>T (p.Ser684=) rs1461401586 0.00001
NM_152296.5(ATP1A3):c.2095-6C>T rs1555860861 0.00001
NM_152296.5(ATP1A3):c.2130C>T (p.Asn710=) rs1394454178 0.00001
NM_152296.5(ATP1A3):c.2171T>C (p.Met724Thr) rs1329568831 0.00001
NM_152296.5(ATP1A3):c.219G>A (p.Pro73=) rs567997976 0.00001
NM_152296.5(ATP1A3):c.2244C>T (p.Ile748=) rs143307687 0.00001
NM_152296.5(ATP1A3):c.2263+9G>A rs372897787 0.00001
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=) rs886054473 0.00001
NM_152296.5(ATP1A3):c.2343G>T (p.Leu781=) rs1216939281 0.00001
NM_152296.5(ATP1A3):c.2400C>T (p.Ile800=) rs782552524 0.00001
NM_152296.5(ATP1A3):c.2418+9T>A rs950336124 0.00001
NM_152296.5(ATP1A3):c.2442C>T (p.Tyr814=) rs367659803 0.00001
NM_152296.5(ATP1A3):c.2445G>A (p.Glu815=) rs781915542 0.00001
NM_152296.5(ATP1A3):c.2523C>T (p.Ser841=) rs1236093021 0.00001
NM_152296.5(ATP1A3):c.2532C>T (p.Tyr844=) rs782485793 0.00001
NM_152296.5(ATP1A3):c.2553G>A (p.Gln851=) rs782151853 0.00001
NM_152296.5(ATP1A3):c.2688+11C>A rs782430886 0.00001
NM_152296.5(ATP1A3):c.2694C>T (p.Tyr898=) rs1036805125 0.00001
NM_152296.5(ATP1A3):c.2703G>A (p.Arg901=) rs1347375704 0.00001
NM_152296.5(ATP1A3):c.2730G>A (p.Thr910=) rs377758618 0.00001
NM_152296.5(ATP1A3):c.2748C>T (p.Ile916=) rs782390447 0.00001
NM_152296.5(ATP1A3):c.274A>G (p.Ile92Val) rs933392084 0.00001
NM_152296.5(ATP1A3):c.2790G>A (p.Arg930=) rs782317175 0.00001
NM_152296.5(ATP1A3):c.2819+9C>T rs976302465 0.00001
NM_152296.5(ATP1A3):c.2859C>T (p.Ala953=) rs1555858949 0.00001
NM_152296.5(ATP1A3):c.2887G>A (p.Gly963Ser) rs200582951 0.00001
NM_152296.5(ATP1A3):c.2937C>T (p.Phe979=) rs965301142 0.00001
NM_152296.5(ATP1A3):c.2943C>T (p.Ala981=) rs1439299124 0.00001
NM_152296.5(ATP1A3):c.2946C>T (p.Phe982=) rs182309368 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152296.5(ATP1A3):c.2997G>T (p.Leu999=) rs1172518925 0.00001
NM_152296.5(ATP1A3):c.3006C>T (p.Asn1002=) rs782086452 0.00001
NM_152296.5(ATP1A3):c.3013+10C>G rs782023293 0.00001
NM_152296.5(ATP1A3):c.3014-5T>C rs782325963 0.00001
NM_152296.5(ATP1A3):c.315C>T (p.Tyr105=) rs782717865 0.00001
NM_152296.5(ATP1A3):c.333C>T (p.Thr111=) rs782779392 0.00001
NM_152296.5(ATP1A3):c.339C>T (p.Asp113=) rs1555865976 0.00001
NM_152296.5(ATP1A3):c.358-6C>T rs1395827738 0.00001
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00001
NM_152296.5(ATP1A3):c.376C>T (p.Leu126=) rs1167271636 0.00001
NM_152296.5(ATP1A3):c.381G>A (p.Ala127=) rs782313754 0.00001
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=) rs782662538 0.00001
NM_152296.5(ATP1A3):c.399T>A (p.Thr133=) rs782428386 0.00001
NM_152296.5(ATP1A3):c.468C>G (p.Pro156=) rs1035085048 0.00001
NM_152296.5(ATP1A3):c.472-10C>T rs1318002472 0.00001
NM_152296.5(ATP1A3):c.513C>T (p.Asn171=) rs782560151 0.00001
NM_152296.5(ATP1A3):c.598G>A (p.Gly200Ser) rs1555865238 0.00001
NM_152296.5(ATP1A3):c.59G>A (p.Arg20Gln) rs949169436 0.00001
NM_152296.5(ATP1A3):c.6+17C>A rs782567963 0.00001
NM_152296.5(ATP1A3):c.607-10C>G rs1250683183 0.00001
NM_152296.5(ATP1A3):c.630C>T (p.Gly210=) rs199906040 0.00001
NM_152296.5(ATP1A3):c.636C>T (p.Ser212=) rs146476476 0.00001
NM_152296.5(ATP1A3):c.658G>A (p.Asp220Asn) rs1396898460 0.00001
NM_152296.5(ATP1A3):c.672C>T (p.Asp224=) rs954153137 0.00001
NM_152296.5(ATP1A3):c.678C>G (p.Pro226=) rs782427535 0.00001
NM_152296.5(ATP1A3):c.69T>C (p.Asp23=) rs1178257393 0.00001
NM_152296.5(ATP1A3):c.7-12G>A rs369150627 0.00001
NM_152296.5(ATP1A3):c.7-2A>C rs1555866356 0.00001
NM_152296.5(ATP1A3):c.804G>A (p.Glu268=) rs781831563 0.00001
NM_152296.5(ATP1A3):c.822C>T (p.Ile274=) rs558011104 0.00001
NM_152296.5(ATP1A3):c.879T>C (p.Gly293=) rs782184674 0.00001
NM_152296.5(ATP1A3):c.891C>T (p.Phe297=) rs921400561 0.00001
NM_152296.5(ATP1A3):c.93+10G>A rs377023306 0.00001
NM_152296.5(ATP1A3):c.93+9C>T rs369684003 0.00001
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=) rs782140994 0.00001
NM_152296.5(ATP1A3):c.945C>T (p.Ile315=) rs782718686 0.00001
NM_152296.5(ATP1A3):c.994-10C>T rs781783591 0.00001
GRCh37/hg19 16p11.2(chr16:29495011-30206548)
GRCh37/hg19 7q21.3(chr7:93516132-95668733)
NC_000002.11:g.(?_179296804)_(179456251_?)dup
NC_000002.11:g.(?_218999525)_(220435954_?)dup
NC_000002.11:g.(?_219135259)_(219209704_?)dup
NC_000002.11:g.(?_219204486)_(219209704_?)del
NC_000002.11:g.(?_219204486)_(219209704_?)dup
NC_000002.11:g.(?_219204486)_(219209724_?)dup
NC_000002.12:g.(?_218339763)_(218345001_?)del
NC_000005.9:g.(?_1253823)_(1448148_?)del
NC_000005.9:g.(?_1394830)_(1394893_?)dup
NC_000005.9:g.(?_218471)_(1895829_?)del
NC_000007.13:g.(?_94214811)_(94252729_?)dup
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_000007.13:g.(?_94285282)_(94285430_?)dup
NC_000007.14:g.(?_94395012)_(94656118_?)del
NC_000007.14:g.(?_94598775)_(94603452_?)del
NC_000007.14:g.(?_94628182)_(94628379_?)del
NC_000010.10:g.129942146_132848717del
NC_000016.10:g.(?_29813035)_(29814658_?)del
NC_000016.10:g.(?_29813045)_(29814648_?)del
NC_000016.10:g.(?_29813055)_(29904965_?)del
NC_000016.10:g.(?_29824300)_(29826034_?)del
NC_000016.9:g.(?_29802081)_(30199917_?)del
NC_000016.9:g.(?_29802081)_(30199917_?)dup
NC_000016.9:g.(?_29802081)_(30200285_?)del
NC_000016.9:g.(?_29802081)_(30200285_?)dup
NC_000016.9:g.(?_29824311)_(29827202_?)dup
NC_000016.9:g.(?_29824356)_(29825979_?)dup
NC_000016.9:g.(?_29824366)_(29825969_?)dup
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.(?_41966917)_(41978818_?)dup
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.(?_42482078)_(42498228_?)dup
NC_000019.9:g.(?_42489050)_(42490401_?)del
NC_000019.9:g.(?_42489996)_(42492734_?)dup
NC_000022.10:g.(?_37154355)_(39148633_?)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_000217.3(KCNA1):c.1187G>T (p.Gly396Val) rs2137673958
NM_000834.5(GRIN2B):c.3638A>T (p.Asn1213Ile) rs1948583655
NM_001040142.2(SCN2A):c.3972G>A (p.Arg1324=) rs1057518117
NM_001044.5(SLC6A3):c.1031+1G>A rs431905514
NM_001044.5(SLC6A3):c.1031+6C>T rs767925756
NM_001044.5(SLC6A3):c.1031+71G>T rs40358
NM_001044.5(SLC6A3):c.1032-17G>A
NM_001044.5(SLC6A3):c.1032-20G>A rs200430075
NM_001044.5(SLC6A3):c.1032-20G>C rs200430075
NM_001044.5(SLC6A3):c.1032-5T>C rs1208452818
NM_001044.5(SLC6A3):c.1042G>C (p.Val348Leu) rs1756241093
NM_001044.5(SLC6A3):c.1068G>A (p.Thr356=) rs562538093
NM_001044.5(SLC6A3):c.1083C>G (p.Gly361=)
NM_001044.5(SLC6A3):c.1084T>C (p.Phe362Leu)
NM_001044.5(SLC6A3):c.1087G>C (p.Val363Leu)
NM_001044.5(SLC6A3):c.1090G>A (p.Val364Ile)
NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln) rs267607068
NM_001044.5(SLC6A3):c.1104G>A (p.Leu368=)
NM_001044.5(SLC6A3):c.1107G>A (p.Gly369=) rs759094634
NM_001044.5(SLC6A3):c.1111A>C (p.Met371Leu)
NM_001044.5(SLC6A3):c.1131G>T (p.Val377=)
NM_001044.5(SLC6A3):c.114C>G (p.Asn38Lys) rs6350
NM_001044.5(SLC6A3):c.1156+9C>T rs921062478
NM_001044.5(SLC6A3):c.1156G>A (p.Gly386Arg)
NM_001044.5(SLC6A3):c.1157-20C>G rs2126344195
NM_001044.5(SLC6A3):c.1161A>G (p.Pro387=)
NM_001044.5(SLC6A3):c.117A>G (p.Gly39=)
NM_001044.5(SLC6A3):c.1197C>G (p.Ala399=) rs1171195804
NM_001044.5(SLC6A3):c.1216G>A (p.Ala406Thr) rs1402133250
NM_001044.5(SLC6A3):c.1225G>A (p.Val409Met)
NM_001044.5(SLC6A3):c.1248C>T (p.Leu416=) rs1553985998
NM_001044.5(SLC6A3):c.1251C>T (p.Thr417=)
NM_001044.5(SLC6A3):c.1260C>T (p.Ile420=)
NM_001044.5(SLC6A3):c.1266C>T (p.Ser422=)
NM_001044.5(SLC6A3):c.1267G>A (p.Ala423Thr) rs1170256759
NM_001044.5(SLC6A3):c.1269+12G>T
NM_001044.5(SLC6A3):c.1269+17G>A rs374618829
NM_001044.5(SLC6A3):c.1269+5G>A rs2126343796
NM_001044.5(SLC6A3):c.1270-12C>T
NM_001044.5(SLC6A3):c.1270-19C>T
NM_001044.5(SLC6A3):c.1270-4G>A
NM_001044.5(SLC6A3):c.1293C>T (p.Ile431=) rs2126340135
NM_001044.5(SLC6A3):c.1299G>T (p.Gly433=) rs1480967154
NM_001044.5(SLC6A3):c.1305C>A (p.Ile435=)
NM_001044.5(SLC6A3):c.1305C>G (p.Ile435Met) rs760545154
NM_001044.5(SLC6A3):c.1305C>T (p.Ile435=) rs760545154
NM_001044.5(SLC6A3):c.1311G>C (p.Glu437Asp) rs752558131
NM_001044.5(SLC6A3):c.132C>T (p.Ser44=)
NM_001044.5(SLC6A3):c.1347G>T (p.Thr449=) rs759854756
NM_001044.5(SLC6A3):c.1359C>T (p.Val453=) rs1399414786
NM_001044.5(SLC6A3):c.1371C>T (p.Phe457=) rs770479961
NM_001044.5(SLC6A3):c.1379C>G (p.Ser460Cys)
NM_001044.5(SLC6A3):c.1398+12C>T
NM_001044.5(SLC6A3):c.1398+13G>A
NM_001044.5(SLC6A3):c.1398+16G>A
NM_001044.5(SLC6A3):c.1398+5G>A rs1756068240
NM_001044.5(SLC6A3):c.1398+5_1398+6dup rs2126339779
NM_001044.5(SLC6A3):c.1399-11C>T
NM_001044.5(SLC6A3):c.1399-11del
NM_001044.5(SLC6A3):c.1399-19A>G
NM_001044.5(SLC6A3):c.1408_1409delinsAG (p.Tyr470Ser) rs2126338512
NM_001044.5(SLC6A3):c.1419G>A (p.Thr473=)
NM_001044.5(SLC6A3):c.1441G>A (p.Gly481Ser)
NM_001044.5(SLC6A3):c.1443C>T (p.Gly481=)
NM_001044.5(SLC6A3):c.1459G>A (p.Gly487Arg) rs2126338372
NM_001044.5(SLC6A3):c.147C>T (p.Asn49=)
NM_001044.5(SLC6A3):c.1485G>A (p.Val495=) rs1756052542
NM_001044.5(SLC6A3):c.1498+13_1498+14delinsTG rs2126338242
NM_001044.5(SLC6A3):c.1498+8C>T
NM_001044.5(SLC6A3):c.1504G>A (p.Gly502Arg)
NM_001044.5(SLC6A3):c.150G>A (p.Pro50=) rs6346
NM_001044.5(SLC6A3):c.1527G>C (p.Gln509His) rs6880875
NM_001044.5(SLC6A3):c.1536C>T (p.Thr512=)
NM_001044.5(SLC6A3):c.1548C>T (p.Pro516=)
NM_001044.5(SLC6A3):c.1552C>G (p.Leu518Val)
NM_001044.5(SLC6A3):c.1554G>A (p.Leu518=)
NM_001044.5(SLC6A3):c.1569_1592delinsA (p.Cys523_Phe531delinsTer)
NM_001044.5(SLC6A3):c.1596C>T (p.Leu532=)
NM_001044.5(SLC6A3):c.1599+12C>G rs150170183
NM_001044.5(SLC6A3):c.1600-9_1600-8delinsCT rs2126324656
NM_001044.5(SLC6A3):c.1601T>G (p.Phe534Cys)
NM_001044.5(SLC6A3):c.1609G>A (p.Val537Met)
NM_001044.5(SLC6A3):c.1619T>C (p.Ile540Thr)
NM_001044.5(SLC6A3):c.1629C>T (p.Phe543=)
NM_001044.5(SLC6A3):c.162C>A (p.Pro54=)
NM_001044.5(SLC6A3):c.162C>G (p.Pro54=) rs6351
NM_001044.5(SLC6A3):c.1633C>T (p.Pro545Ser)
NM_001044.5(SLC6A3):c.1639C>A (p.His547Asn) rs781299950
NM_001044.5(SLC6A3):c.163G>T (p.Val55Leu)
NM_001044.5(SLC6A3):c.1648G>A (p.Ala550Thr) rs1423226570
NM_001044.5(SLC6A3):c.1653C>T (p.Tyr551=)
NM_001044.5(SLC6A3):c.1674C>T (p.Asn558=)
NM_001044.5(SLC6A3):c.1675G>A (p.Ala559Thr)
NM_001044.5(SLC6A3):c.1676C>G (p.Ala559Gly)
NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=) rs767241571
NM_001044.5(SLC6A3):c.1693G>T (p.Ala565Ser)
NM_001044.5(SLC6A3):c.1698A>G (p.Thr566=)
NM_001044.5(SLC6A3):c.1725T>C (p.Tyr575=) rs2126324184
NM_001044.5(SLC6A3):c.1767+14C>T
NM_001044.5(SLC6A3):c.1767+15G>A
NM_001044.5(SLC6A3):c.1767+16G>A
NM_001044.5(SLC6A3):c.1767+2T>C rs2126324037
NM_001044.5(SLC6A3):c.1768-12T>C
NM_001044.5(SLC6A3):c.1768-7C>T rs2126319630
NM_001044.5(SLC6A3):c.1768-7_1768-6del rs781468421
NM_001044.5(SLC6A3):c.1775C>T (p.Ala592Val)
NM_001044.5(SLC6A3):c.1776C>G (p.Ala592=)
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp) rs1579729357
NM_001044.5(SLC6A3):c.1791C>T (p.Pro597=) rs1310047234
NM_001044.5(SLC6A3):c.1792G>A (p.Glu598Lys)
NM_001044.5(SLC6A3):c.1794G>A (p.Glu598=)
NM_001044.5(SLC6A3):c.1806G>A (p.Glu602=) rs2126319427
NM_001044.5(SLC6A3):c.180G>T (p.Arg60=)
NM_001044.5(SLC6A3):c.1812G>A (p.Val604=)
NM_001044.5(SLC6A3):c.1817G>A (p.Arg606Lys) rs1755834750
NM_001044.5(SLC6A3):c.1839+15C>T
NM_001044.5(SLC6A3):c.1839+9_1839+14del
NM_001044.5(SLC6A3):c.1840-8C>A rs755204020
NM_001044.5(SLC6A3):c.213G>A (p.Leu71=)
NM_001044.5(SLC6A3):c.215C>T (p.Ser72Phe) rs1560928848
NM_001044.5(SLC6A3):c.217G>A (p.Val73Ile)
NM_001044.5(SLC6A3):c.21C>T (p.Ser7=)
NM_001044.5(SLC6A3):c.231T>C (p.Ala77=)
NM_001044.5(SLC6A3):c.246C>T (p.Asn82=)
NM_001044.5(SLC6A3):c.247G>A (p.Val83Ile)
NM_001044.5(SLC6A3):c.24G>A (p.Val8=)
NM_001044.5(SLC6A3):c.267G>A (p.Leu89=)
NM_001044.5(SLC6A3):c.286+10A>T
NM_001044.5(SLC6A3):c.286+16G>C
NM_001044.5(SLC6A3):c.286+18C>T
NM_001044.5(SLC6A3):c.286+6T>A
NM_001044.5(SLC6A3):c.286+8C>T
NM_001044.5(SLC6A3):c.287-13T>C rs2126412495
NM_001044.5(SLC6A3):c.287-20G>C
NM_001044.5(SLC6A3):c.287-5C>G
NM_001044.5(SLC6A3):c.287-5C>T
NM_001044.5(SLC6A3):c.287-6C>T
NM_001044.5(SLC6A3):c.310C>A (p.Leu104Ile) rs141740642
NM_001044.5(SLC6A3):c.366G>C (p.Gln122His) rs1733660991
NM_001044.5(SLC6A3):c.376G>C (p.Glu126Gln) rs746351989
NM_001044.5(SLC6A3):c.409A>G (p.Ile137Val) rs1733660279
NM_001044.5(SLC6A3):c.418+16C>A
NM_001044.5(SLC6A3):c.418G>C (p.Gly140Arg) rs1014165579
NM_001044.5(SLC6A3):c.419-12C>G
NM_001044.5(SLC6A3):c.419-16del
NM_001044.5(SLC6A3):c.419-5G>A
NM_001044.5(SLC6A3):c.419-5G>T
NM_001044.5(SLC6A3):c.432G>A (p.Thr144=)
NM_001044.5(SLC6A3):c.444C>T (p.Ile148=) rs186229286
NM_001044.5(SLC6A3):c.457G>A (p.Gly153Ser)
NM_001044.5(SLC6A3):c.480C>T (p.Ile160=)
NM_001044.5(SLC6A3):c.493C>T (p.His165Tyr)
NM_001044.5(SLC6A3):c.50C>A (p.Pro17Gln)
NM_001044.5(SLC6A3):c.554A>G (p.Asn185Ser)
NM_001044.5(SLC6A3):c.57G>A (p.Lys19=) rs1733721886
NM_001044.5(SLC6A3):c.584G>T (p.Gly195Val)
NM_001044.5(SLC6A3):c.586G>A (p.Asp196Asn) rs2126394511
NM_001044.5(SLC6A3):c.605C>T (p.Ser202Leu) rs149444784
NM_001044.5(SLC6A3):c.616G>C (p.Asp206His)
NM_001044.5(SLC6A3):c.625G>T (p.Gly209Trp)
NM_001044.5(SLC6A3):c.641C>T (p.Ala214Val)
NM_001044.5(SLC6A3):c.653+11G>A
NM_001044.5(SLC6A3):c.653+12T>C
NM_001044.5(SLC6A3):c.653+5G>A rs1756726188
NM_001044.5(SLC6A3):c.654-17C>A
NM_001044.5(SLC6A3):c.654-18G>A
NM_001044.5(SLC6A3):c.654-3C>T
NM_001044.5(SLC6A3):c.654-8C>T
NM_001044.5(SLC6A3):c.660C>T (p.Gly220=)
NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro) rs431905515
NM_001044.5(SLC6A3):c.678G>A (p.Gln226=)
NM_001044.5(SLC6A3):c.693C>T (p.Asp231=)
NM_001044.5(SLC6A3):c.69C>T (p.Ala23=)
NM_001044.5(SLC6A3):c.701G>T (p.Gly234Val)
NM_001044.5(SLC6A3):c.708G>A (p.Pro236=)
NM_001044.5(SLC6A3):c.71T>G (p.Val24Gly) rs2126415795
NM_001044.5(SLC6A3):c.732G>A (p.Leu244=)
NM_001044.5(SLC6A3):c.741C>T (p.Val247=)
NM_001044.5(SLC6A3):c.744C>T (p.Ile248=)
NM_001044.5(SLC6A3):c.774C>T (p.Gly258=)
NM_001044.5(SLC6A3):c.792+18C>T
NM_001044.5(SLC6A3):c.792+4A>T
NM_001044.5(SLC6A3):c.792+9C>T
NM_001044.5(SLC6A3):c.793-16C>G rs1756412005
NM_001044.5(SLC6A3):c.793-7C>T
NM_001044.5(SLC6A3):c.810C>G (p.Ala270=)
NM_001044.5(SLC6A3):c.81G>C (p.Lys27Asn) rs915327713
NM_001044.5(SLC6A3):c.823G>A (p.Val275Met) rs141056632
NM_001044.5(SLC6A3):c.837C>G (p.Ala279=) rs2126368210
NM_001044.5(SLC6A3):c.84G>A (p.Glu28=)
NM_001044.5(SLC6A3):c.870C>T (p.Ala290=)
NM_001044.5(SLC6A3):c.875A>G (p.Asp292Gly)
NM_001044.5(SLC6A3):c.876C>A (p.Asp292Glu) rs146615804
NM_001044.5(SLC6A3):c.876C>T (p.Asp292=) rs146615804
NM_001044.5(SLC6A3):c.886G>A (p.Ala296Thr)
NM_001044.5(SLC6A3):c.892del (p.Tyr297_Leu298insTer) rs1756409749
NM_001044.5(SLC6A3):c.897C>T (p.Ser299=)
NM_001044.5(SLC6A3):c.923C>T (p.Ala308Val) rs373667971
NM_001044.5(SLC6A3):c.927+11T>A
NM_001044.5(SLC6A3):c.927+8_927+9del
NM_001044.5(SLC6A3):c.928-12C>G
NM_001044.5(SLC6A3):c.928-16C>T
NM_001044.5(SLC6A3):c.942G>A (p.Ala314=)
NM_001044.5(SLC6A3):c.960C>T (p.Phe320=) rs1260915789
NM_001044.5(SLC6A3):c.963C>T (p.Ser321=)
NM_001044.5(SLC6A3):c.970G>A (p.Val324Met) rs779887018
NM_001044.5(SLC6A3):c.990C>T (p.Ile330=)
NM_001044.5(SLC6A3):c.991G>C (p.Ala331Pro) rs1756285412
NM_001044.5(SLC6A3):c.997T>G (p.Ser333Ala) rs1756285211
NM_001139517.1(PRKRA):c.27_28ins57 (p.?)
NM_001282684.2(KCTD17):c.-11C>G
NM_001282684.2(KCTD17):c.144C>T (p.Ser48=) rs572333922
NM_001282684.2(KCTD17):c.189+19G>A
NM_001282684.2(KCTD17):c.18G>C (p.Gly6=)
NM_001282684.2(KCTD17):c.190-15C>T
NM_001282684.2(KCTD17):c.199G>C (p.Gly67Arg)
NM_001282684.2(KCTD17):c.202G>A (p.Ala68Thr)
NM_001282684.2(KCTD17):c.20A>G (p.Glu7Gly) rs1440603288
NM_001282684.2(KCTD17):c.283G>C (p.Asp95His)
NM_001282684.2(KCTD17):c.331G>A (p.Gly111Ser)
NM_001282684.2(KCTD17):c.332G>A (p.Gly111Asp) rs2145972098
NM_001282684.2(KCTD17):c.332G>T (p.Gly111Val)
NM_001282684.2(KCTD17):c.346A>C (p.Ile116Leu)
NM_001282684.2(KCTD17):c.360G>A (p.Arg120=)
NM_001282684.2(KCTD17):c.380C>T (p.Thr127Met)
NM_001282684.2(KCTD17):c.390+13G>A
NM_001282684.2(KCTD17):c.390+20C>A
NM_001282684.2(KCTD17):c.391-14C>T
NM_001282684.2(KCTD17):c.391-8G>T rs770530808
NM_001282684.2(KCTD17):c.40G>T (p.Ala14Ser)
NM_001282684.2(KCTD17):c.413G>A (p.Arg138His) rs786205860
NM_001282684.2(KCTD17):c.415G>T (p.Val139Leu)
NM_001282684.2(KCTD17):c.42G>A (p.Ala14=)
NM_001282684.2(KCTD17):c.436G>A (p.Glu146Lys)
NM_001282684.2(KCTD17):c.475C>T (p.Arg159Cys)
NM_001282684.2(KCTD17):c.486+4C>T
NM_001282684.2(KCTD17):c.489G>T (p.Leu163=)
NM_001282684.2(KCTD17):c.516C>T (p.Tyr172=)
NM_001282684.2(KCTD17):c.529C>A (p.Gln177Lys) rs1601495318
NM_001282684.2(KCTD17):c.535G>A (p.Glu179Lys) rs6000546
NM_001282684.2(KCTD17):c.547dup (p.Val183fs)
NM_001282684.2(KCTD17):c.557A>G (p.Lys186Arg)
NM_001282684.2(KCTD17):c.571A>G (p.Thr191Ala) rs2145986921
NM_001282684.2(KCTD17):c.579C>T (p.Asn193=)
NM_001282684.2(KCTD17):c.57A>C (p.Ala19=)
NM_001282684.2(KCTD17):c.580G>A (p.Gly194Arg)
NM_001282684.2(KCTD17):c.5G>C (p.Arg2Thr) rs1924499850
NM_001282684.2(KCTD17):c.601C>T (p.Arg201Cys)
NM_001282684.2(KCTD17):c.611A>C (p.Lys204Thr) rs1601495664
NM_001282684.2(KCTD17):c.612+12C>T
NM_001282684.2(KCTD17):c.613-14C>T
NM_001282684.2(KCTD17):c.613-17C>T
NM_001282684.2(KCTD17):c.617C>T (p.Thr206Met)
NM_001282684.2(KCTD17):c.634G>A (p.Glu212Lys)
NM_001282684.2(KCTD17):c.653_667dup (p.Glu222_Val223insGluGluValGluGlu)
NM_001282684.2(KCTD17):c.656AGGTGGAGG[1] (p.219EVE[1])
NM_001282684.2(KCTD17):c.668T>C (p.Val223Ala) rs2145994501
NM_001282684.2(KCTD17):c.6G>C (p.Arg2Ser)
NM_001282684.2(KCTD17):c.735T>G (p.Ala245=)
NM_001282684.2(KCTD17):c.770C>T (p.Pro257Leu)
NM_001282684.2(KCTD17):c.771G>A (p.Pro257=)
NM_001282684.2(KCTD17):c.785-10C>T
NM_001282684.2(KCTD17):c.785-15G>A
NM_001282684.2(KCTD17):c.790C>T (p.Arg264Cys)
NM_001282684.2(KCTD17):c.794C>T (p.Pro265Leu)
NM_001282684.2(KCTD17):c.795G>A (p.Pro265=)
NM_001282684.2(KCTD17):c.842G>A (p.Arg281Gln) rs770794932
NM_001282684.2(KCTD17):c.842G>C (p.Arg281Pro)
NM_001282684.2(KCTD17):c.849C>T (p.Leu283=)
NM_001282684.2(KCTD17):c.875+15G>A
NM_001282684.2(KCTD17):c.875+9C>T
NM_001282684.2(KCTD17):c.876-13C>G
NM_001282684.2(KCTD17):c.876-13_876-12del rs754259514
NM_001282684.2(KCTD17):c.876-20T>G
NM_001282684.2(KCTD17):c.876-5dup
NM_001282684.2(KCTD17):c.892G>A (p.Ala298Thr)
NM_001282684.2(KCTD17):c.898G>A (p.Gly300Arg)
NM_001282684.2(KCTD17):c.898G>T (p.Gly300Ter)
NM_001282684.2(KCTD17):c.906G>A (p.Glu302=)
NM_001282684.2(KCTD17):c.90G>C (p.Val30=)
NM_001282684.2(KCTD17):c.941T>C (p.Ile314Thr)
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu) rs1392638187
NM_003054.6(SLC18A2):c.1196A>C (p.Asp399Ala)
NM_003054.6(SLC18A2):c.1306+43G>A rs363272
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.590C>T (p.Ser197Phe)
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.*180C>T rs886055202
NM_003690.5(PRKRA):c.*576G>A rs1696648689
NM_003690.5(PRKRA):c.-11C>T rs767401214
NM_003690.5(PRKRA):c.-133C>G rs80197731
NM_003690.5(PRKRA):c.-14C>T rs181793341
NM_003690.5(PRKRA):c.109C>G (p.Gln37Glu) rs2154125583
NM_003690.5(PRKRA):c.131T>C (p.Met44Thr) rs1553599437
NM_003690.5(PRKRA):c.15G>A (p.Arg5=)
NM_003690.5(PRKRA):c.161G>T (p.Cys54Phe)
NM_003690.5(PRKRA):c.180A>G (p.Gln60=)
NM_003690.5(PRKRA):c.1A>G (p.Met1Val) rs9406386
NM_003690.5(PRKRA):c.203T>A (p.Phe68Tyr)
NM_003690.5(PRKRA):c.228C>G (p.Thr76=)
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs) rs141354030
NM_003690.5(PRKRA):c.230G>C (p.Cys77Ser) rs2154125572
NM_003690.5(PRKRA):c.235+20C>G
NM_003690.5(PRKRA):c.250AAG[3] (p.Lys85_Leu86insLys)
NM_003690.5(PRKRA):c.256C>G (p.Leu86Val) rs1311237497
NM_003690.5(PRKRA):c.25G>A (p.Glu9Lys)
NM_003690.5(PRKRA):c.267_268del (p.His89fs) rs730880307
NM_003690.5(PRKRA):c.270A>C (p.Arg90Ser)
NM_003690.5(PRKRA):c.285C>A (p.Ala95=) rs546281621
NM_003690.5(PRKRA):c.286A>G (p.Ile96Val)
NM_003690.5(PRKRA):c.308C>T (p.Ala103Val) rs2154125404
NM_003690.5(PRKRA):c.309A>C (p.Ala103=)
NM_003690.5(PRKRA):c.317+14C>T
NM_003690.5(PRKRA):c.318-20C>G
NM_003690.5(PRKRA):c.319T>C (p.Phe107Leu) rs1369422271
NM_003690.5(PRKRA):c.32C>G (p.Pro11Arg) rs62176112
NM_003690.5(PRKRA):c.348C>T (p.Asp116=) rs752108367
NM_003690.5(PRKRA):c.377A>G (p.Asn126Ser) rs1553597653
NM_003690.5(PRKRA):c.397-19C>T
NM_003690.5(PRKRA):c.435T>C (p.Tyr145=)
NM_003690.5(PRKRA):c.500C>T (p.Ser167Leu) rs747134851
NM_003690.5(PRKRA):c.514+13T>C
NM_003690.5(PRKRA):c.514+15C>A
NM_003690.5(PRKRA):c.514+2T>A
NM_003690.5(PRKRA):c.515-11del rs199996045
NM_003690.5(PRKRA):c.535C>T (p.Gln179Ter)
NM_003690.5(PRKRA):c.578G>C (p.Ser193Thr)
NM_003690.5(PRKRA):c.581A>G (p.Asn194Ser)
NM_003690.5(PRKRA):c.610-11_610-10del rs138320145
NM_003690.5(PRKRA):c.610-18T>G
NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA rs775832077
NM_003690.5(PRKRA):c.616G>A (p.Val206Ile)
NM_003690.5(PRKRA):c.637T>C (p.Cys213Arg) rs1575088174
NM_003690.5(PRKRA):c.65+12G>A
NM_003690.5(PRKRA):c.65+15A>C rs2154125656
NM_003690.5(PRKRA):c.65+18C>T
NM_003690.5(PRKRA):c.65+20G>A
NM_003690.5(PRKRA):c.66-4_66-3insTCCCAGAGCAGGCACCGCCGAGGCCCTGCCGCTGGAGCGCGAGGACAGTGGGACCTT rs1553599483
NM_003690.5(PRKRA):c.680A>G (p.Asn227Ser) rs1158107453
NM_003690.5(PRKRA):c.699C>T (p.Leu233=)
NM_003690.5(PRKRA):c.71G>C (p.Gly24Ala)
NM_003690.5(PRKRA):c.784+14T>A rs748087429
NM_003690.5(PRKRA):c.784+15del rs200581051
NM_003690.5(PRKRA):c.784+15dup
NM_003690.5(PRKRA):c.785-14A>C
NM_003690.5(PRKRA):c.785-2_785-1insATATTTGGATAT rs751875722
NM_003690.5(PRKRA):c.795C>A (p.Ser265Arg) rs150679361
NM_003690.5(PRKRA):c.840C>T (p.Pro280=) rs1176724773
NM_003690.5(PRKRA):c.84A>G (p.Thr28=) rs1336241160
NM_003690.5(PRKRA):c.854A>G (p.His285Arg)
NM_003690.5(PRKRA):c.861C>A (p.Ser287=)
NM_003690.5(PRKRA):c.870C>T (p.Ser290=) rs537898766
NM_003690.5(PRKRA):c.891T>C (p.Asp297=) rs2154124431
NM_003690.5(PRKRA):c.923T>C (p.Ile308Thr)
NM_003919.2(SGCE):c.-37_-33dupGGGAG rs534632849
NM_003919.2(SGCE):c.464_662del
NM_003919.3(SGCE):c.1003C>T (p.Leu335Phe) rs1799068772
NM_003919.3(SGCE):c.1010A>G (p.Tyr337Cys) rs1799066913
NM_003919.3(SGCE):c.1011del (p.Ala336_Tyr337insTer) rs2116693521
NM_003919.3(SGCE):c.1012A>G (p.Ile338Val)
NM_003919.3(SGCE):c.1013T>C (p.Ile338Thr)
NM_003919.3(SGCE):c.1016T>C (p.Met339Thr) rs1468730105
NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter)
NM_003919.3(SGCE):c.1037+10T>G rs2116693166
NM_003919.3(SGCE):c.1037+19A>T
NM_003919.3(SGCE):c.1037+3del
NM_003919.3(SGCE):c.1038-12T>C
NM_003919.3(SGCE):c.1038-13G>A
NM_003919.3(SGCE):c.1038-18A>G rs779693236
NM_003919.3(SGCE):c.1038-9T>G rs1187065404
NM_003919.3(SGCE):c.1038G>C (p.Val346=) rs1584526749
NM_003919.3(SGCE):c.103C>T (p.Leu35=) rs1808616421
NM_003919.3(SGCE):c.1042_1043del (p.Lys348fs)
NM_003919.3(SGCE):c.1046G>C (p.Arg349Thr) rs1798921521
NM_003919.3(SGCE):c.104T>C (p.Leu35Pro) rs2117137538
NM_003919.3(SGCE):c.1052T>C (p.Met351Thr)
NM_003919.3(SGCE):c.1058C>A (p.Thr353Lys) rs2116684872
NM_003919.3(SGCE):c.1058_1062del (p.Thr353fs)
NM_003919.3(SGCE):c.1062A>G (p.Pro354=)
NM_003919.3(SGCE):c.1064+11T>A
NM_003919.3(SGCE):c.1064+14T>C
NM_003919.3(SGCE):c.1064+17C>T
NM_003919.3(SGCE):c.1064+19G>C
NM_003919.3(SGCE):c.1064+3_1064+6del rs1304738505
NM_003919.3(SGCE):c.1064+9C>T rs1798913576
NM_003919.3(SGCE):c.1065-22_1065-18del rs766688362
NM_003919.3(SGCE):c.1065-22_1065-20del rs752597509
NM_003919.3(SGCE):c.1065-6A>G
NM_003919.3(SGCE):c.1065C>T (p.Asp355=) rs886062520
NM_003919.3(SGCE):c.1072C>G (p.Leu358Val)
NM_003919.3(SGCE):c.1075G>A (p.Val359Ile)
NM_003919.3(SGCE):c.1075G>C (p.Val359Leu)
NM_003919.3(SGCE):c.1078C>T (p.His360Tyr) rs2116677287
NM_003919.3(SGCE):c.107C>T (p.Thr36Ile) rs2117137516
NM_003919.3(SGCE):c.109+1G>A rs1808615750
NM_003919.3(SGCE):c.109+2T>C rs2117137466
NM_003919.3(SGCE):c.109+3dup rs2117137426
NM_003919.3(SGCE):c.109+4A>G
NM_003919.3(SGCE):c.1091T>C (p.Ile364Thr) rs1798813790
NM_003919.3(SGCE):c.109G>A (p.Val37Met) rs1562916805
NM_003919.3(SGCE):c.110-10T>G
NM_003919.3(SGCE):c.110-15C>T
NM_003919.3(SGCE):c.110-1G>T
NM_003919.3(SGCE):c.110-9608G>A rs2117037022
NM_003919.3(SGCE):c.1101T>A (p.Ser367=) rs756672671
NM_003919.3(SGCE):c.1104C>A (p.Thr368=) rs978868528
NM_003919.3(SGCE):c.1106A>G (p.Lys369Arg) rs753092622
NM_003919.3(SGCE):c.1107G>A (p.Lys369=)
NM_003919.3(SGCE):c.1121T>C (p.Met374Thr) rs751967746
NM_003919.3(SGCE):c.1122G>A (p.Met374Ile) rs1798808645
NM_003919.3(SGCE):c.1129A>C (p.Asn377His) rs763064939
NM_003919.3(SGCE):c.1134A>C (p.Arg378Ser) rs886043602
NM_003919.3(SGCE):c.1135G>A (p.Glu379Lys)
NM_003919.3(SGCE):c.1139T>C (p.Ile380Thr) rs765193255
NM_003919.3(SGCE):c.1139T>G (p.Ile380Arg) rs765193255
NM_003919.3(SGCE):c.1141G>C (p.Ala381Pro) rs1341048280
NM_003919.3(SGCE):c.1151T>G (p.Leu384Arg) rs2116675766
NM_003919.3(SGCE):c.1151del (p.Leu384fs)
NM_003919.3(SGCE):c.1153T>C (p.Ser385Pro) rs1274760811
NM_003919.3(SGCE):c.1155A>G (p.Ser385=)
NM_003919.3(SGCE):c.1156A>G (p.Thr386Ala)
NM_003919.3(SGCE):c.1157C>G (p.Thr386Arg) rs370800943
NM_003919.3(SGCE):c.1157C>T (p.Thr386Met)
NM_003919.3(SGCE):c.1163del (p.Pro388fs)
NM_003919.3(SGCE):c.1178T>C (p.Val393Ala)
NM_003919.3(SGCE):c.1186G>A (p.Glu396Lys) rs781781262
NM_003919.3(SGCE):c.1195C>G (p.Pro399Ala) rs747427574
NM_003919.3(SGCE):c.1195C>T (p.Pro399Ser)
NM_003919.3(SGCE):c.1196C>G (p.Pro399Arg)
NM_003919.3(SGCE):c.1198C>T (p.Pro400Ser) rs2116674435
NM_003919.3(SGCE):c.1202T>C (p.Leu401Ser)
NM_003919.3(SGCE):c.1208_1209del (p.Thr403fs)
NM_003919.3(SGCE):c.1210_1213del (p.Asp404fs) rs886039595
NM_003919.3(SGCE):c.1214A>G (p.Asn405Ser) rs1584521458
NM_003919.3(SGCE):c.1217A>G (p.Tyr406Cys)
NM_003919.3(SGCE):c.1218T>C (p.Tyr406=)
NM_003919.3(SGCE):c.1221T>C (p.Asp407=)
NM_003919.3(SGCE):c.1234C>T (p.Pro412Ser)
NM_003919.3(SGCE):c.1238T>C (p.Leu413Ser) rs1562800480
NM_003919.3(SGCE):c.1245A>G (p.Gln415=)
NM_003919.3(SGCE):c.1248G>C (p.Thr416=) rs759435338
NM_003919.3(SGCE):c.1253+14T>C
NM_003919.3(SGCE):c.1253+16G>A
NM_003919.3(SGCE):c.1253+16G>C
NM_003919.3(SGCE):c.1253+2dup rs1798783016
NM_003919.3(SGCE):c.1253+799G>A
NM_003919.3(SGCE):c.1253+811A>C rs10247562
NM_003919.3(SGCE):c.1254-10del rs1584475449
NM_003919.3(SGCE):c.1254-9_1254-7del rs201696689
NM_003919.3(SGCE):c.1265A>C (p.His422Pro)
NM_003919.3(SGCE):c.1271C>G (p.Thr424Ser)
NM_003919.3(SGCE):c.1277T>C (p.Ile426Thr) rs1023091295
NM_003919.3(SGCE):c.1294A>G (p.Thr432Ala)
NM_003919.3(SGCE):c.1295C>T (p.Thr432Ile)
NM_003919.3(SGCE):c.1296dup (p.Gly433fs) rs2116568066
NM_003919.3(SGCE):c.1297+12G>T
NM_003919.3(SGCE):c.1297+18T>C rs761278877
NM_003919.3(SGCE):c.1297+19A>G
NM_003919.3(SGCE):c.1298-10C>T rs1584460451
NM_003919.3(SGCE):c.1298-14C>A
NM_003919.3(SGCE):c.1298-18C>T rs1796774548
NM_003919.3(SGCE):c.129_130delinsT (p.Lys43fs) rs1804394258
NM_003919.3(SGCE):c.133C>A (p.His45Asn)
NM_003919.3(SGCE):c.133C>T (p.His45Tyr)
NM_003919.3(SGCE):c.139G>T (p.Asp47Tyr)
NM_003919.3(SGCE):c.142C>A (p.Arg48=) rs760964336
NM_003919.3(SGCE):c.148G>A (p.Val50Ile) rs1562867795
NM_003919.3(SGCE):c.153C>G (p.Tyr51Ter) rs2116972912
NM_003919.3(SGCE):c.158C>A (p.Ser53Ter)
NM_003919.3(SGCE):c.158C>T (p.Ser53Leu) rs1231727428
NM_003919.3(SGCE):c.15G>T (p.Arg5=) rs1808636031
NM_003919.3(SGCE):c.169C>T (p.Leu57Phe)
NM_003919.3(SGCE):c.170T>G (p.Leu57Arg) rs1584700882
NM_003919.3(SGCE):c.172T>A (p.Phe58Ile)
NM_003919.3(SGCE):c.172T>C (p.Phe58Leu)
NM_003919.3(SGCE):c.176T>C (p.Val59Ala) rs1584700773
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.207G>A (p.Gly69=)
NM_003919.3(SGCE):c.210A>T (p.Glu70Asp) rs907043992
NM_003919.3(SGCE):c.218C>T (p.Pro73Leu) rs758030589
NM_003919.3(SGCE):c.21G>C (p.Trp7Cys)
NM_003919.3(SGCE):c.225A>T (p.Pro75=) rs2116972106
NM_003919.3(SGCE):c.22G>C (p.Glu8Gln) rs1341174498
NM_003919.3(SGCE):c.232+14G>A rs2116971817
NM_003919.3(SGCE):c.232+15A>G
NM_003919.3(SGCE):c.232+16G>A
NM_003919.3(SGCE):c.232+18A>G
NM_003919.3(SGCE):c.232+1G>C
NM_003919.3(SGCE):c.232+1G>T rs1057517990
NM_003919.3(SGCE):c.232+3A>G rs2116971996
NM_003919.3(SGCE):c.232+4del rs1554359605
NM_003919.3(SGCE):c.232+5G>A rs1554359595
NM_003919.3(SGCE):c.233-5T>A rs749444131
NM_003919.3(SGCE):c.235G>T (p.Glu79Ter)
NM_003919.3(SGCE):c.246T>C (p.Asn82=)
NM_003919.3(SGCE):c.246T>G (p.Asn82Lys)
NM_003919.3(SGCE):c.252C>T (p.Pro84=)
NM_003919.3(SGCE):c.252_253del (p.Ile85fs)
NM_003919.3(SGCE):c.257C>G (p.Thr86Arg)
NM_003919.3(SGCE):c.259T>C (p.Phe87Leu) rs1043859833
NM_003919.3(SGCE):c.263A>G (p.Asn88Ser)
NM_003919.3(SGCE):c.268A>T (p.Asn90Tyr) rs1292233652
NM_003919.3(SGCE):c.272T>G (p.Leu91Ter)
NM_003919.3(SGCE):c.285A>G (p.Pro95=)
NM_003919.3(SGCE):c.287A>G (p.Asp96Gly) rs1804079600
NM_003919.3(SGCE):c.288C>A (p.Asp96Glu) rs1804079106
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) rs121908489
NM_003919.3(SGCE):c.28G>T (p.Gly10Ter)
NM_003919.3(SGCE):c.294T>A (p.Pro98=) rs138616225
NM_003919.3(SGCE):c.298T>C (p.Trp100Arg) rs2116959521
NM_003919.3(SGCE):c.300G>C (p.Trp100Cys) rs2116959448
NM_003919.3(SGCE):c.300del (p.Trp100fs) rs1554358727
NM_003919.3(SGCE):c.301C>A (p.Leu101Ile)
NM_003919.3(SGCE):c.304C>A (p.Arg102=)
NM_003919.3(SGCE):c.306A>G (p.Arg102=)
NM_003919.3(SGCE):c.314A>G (p.Gln105Arg) rs1584692239
NM_003919.3(SGCE):c.31G>C (p.Asp11His)
NM_003919.3(SGCE):c.320C>T (p.Thr107Ile)
NM_003919.3(SGCE):c.321del (p.Pro108fs) rs2116959244
NM_003919.3(SGCE):c.324A>G (p.Pro108=)
NM_003919.3(SGCE):c.32A>G (p.Asp11Gly) rs1021265778
NM_003919.3(SGCE):c.335G>A (p.Gly112Glu) rs2116959049
NM_003919.3(SGCE):c.33C>T (p.Asp11=) rs753678586
NM_003919.3(SGCE):c.344A>G (p.Tyr115Cys) rs2116958989
NM_003919.3(SGCE):c.353dup (p.Thr119fs)
NM_003919.3(SGCE):c.370G>A (p.Gly124Arg) rs142076876
NM_003919.3(SGCE):c.37_38insA (p.Cys13Ter) rs766778442
NM_003919.3(SGCE):c.380C>G (p.Thr127Arg)
NM_003919.3(SGCE):c.381A>G (p.Thr127=)
NM_003919.3(SGCE):c.384C>T (p.Ile128=)
NM_003919.3(SGCE):c.386T>C (p.Ile129Thr) rs1554358639
NM_003919.3(SGCE):c.390+10A>G
NM_003919.3(SGCE):c.390+12C>G
NM_003919.3(SGCE):c.390+14A>C
NM_003919.3(SGCE):c.390+2T>C
NM_003919.3(SGCE):c.390+3A>C
NM_003919.3(SGCE):c.390+4A>G
NM_003919.3(SGCE):c.391-18G>C rs199922447
NM_003919.3(SGCE):c.391-19G>A rs2116919102
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.39T>C (p.Cys13=) rs2117138280
NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter) rs1554355416
NM_003919.3(SGCE):c.405C>T (p.Asn135=) rs2116918607
NM_003919.3(SGCE):c.409C>A (p.Arg137Ser) rs557861177
NM_003919.3(SGCE):c.410G>C (p.Arg137Pro)
NM_003919.3(SGCE):c.413C>A (p.Thr138Asn) rs777335847
NM_003919.3(SGCE):c.413C>G (p.Thr138Ser) rs777335847
NM_003919.3(SGCE):c.41C>T (p.Ala14Val) rs2117138245
NM_003919.3(SGCE):c.434A>G (p.Asn145Ser)
NM_003919.3(SGCE):c.434_442dup (p.Asn145_Ile147dup) rs1562853011
NM_003919.3(SGCE):c.436T>A (p.Leu146Met) rs752074255
NM_003919.3(SGCE):c.436T>C (p.Leu146=) rs752074255
NM_003919.3(SGCE):c.440T>G (p.Ile147Arg) rs1803133053
NM_003919.3(SGCE):c.441_443del (p.Ile148del)
NM_003919.3(SGCE):c.443T>A (p.Ile148Asn)
NM_003919.3(SGCE):c.444_447del (p.Ile148_Asn149insTer) rs1584663425
NM_003919.3(SGCE):c.446A>C (p.Asn149Thr) rs991557646
NM_003919.3(SGCE):c.448_452del (p.Ile150fs) rs2116918021
NM_003919.3(SGCE):c.450_452del (p.Ile150del) rs886062522
NM_003919.3(SGCE):c.452T>A (p.Met151Lys) rs750679376
NM_003919.3(SGCE):c.458C>T (p.Ala153Val) rs1482958226
NM_003919.3(SGCE):c.463+12A>T
NM_003919.3(SGCE):c.463+13A>T
NM_003919.3(SGCE):c.463+15_463+16del
NM_003919.3(SGCE):c.463+17G>A
NM_003919.3(SGCE):c.463+19T>C rs759488852
NM_003919.3(SGCE):c.463+1G>A rs1584663290
NM_003919.3(SGCE):c.463+20G>T
NM_003919.3(SGCE):c.463+2T>A rs2116917821
NM_003919.3(SGCE):c.463+5G>C rs1210401434
NM_003919.3(SGCE):c.463+6T>G rs754002445
NM_003919.3(SGCE):c.464-14T>A rs187568437
NM_003919.3(SGCE):c.464-14T>C
NM_003919.3(SGCE):c.464-20C>T
NM_003919.3(SGCE):c.470del (p.Pro157fs) rs1554353106
NM_003919.3(SGCE):c.475C>T (p.Pro159Ser) rs1802351511
NM_003919.3(SGCE):c.483del (p.Ala162fs)
NM_003919.3(SGCE):c.484G>A (p.Ala162Thr)
NM_003919.3(SGCE):c.491T>C (p.Phe164Ser)
NM_003919.3(SGCE):c.492C>A (p.Phe164Leu)
NM_003919.3(SGCE):c.495_498del (p.Phe165fs) rs2116882526
NM_003919.3(SGCE):c.4C>T (p.Gln2Ter)
NM_003919.3(SGCE):c.506T>C (p.Met169Thr) rs1293308593
NM_003919.3(SGCE):c.513A>G (p.Val171=)
NM_003919.3(SGCE):c.51A>G (p.Gly17=) rs2117138100
NM_003919.3(SGCE):c.521T>A (p.Met174Lys)
NM_003919.3(SGCE):c.521T>C (p.Met174Thr)
NM_003919.3(SGCE):c.521del (p.Met174fs) rs2116882157
NM_003919.3(SGCE):c.535G>A (p.Val179Ile) rs762854508
NM_003919.3(SGCE):c.536T>C (p.Val179Ala) rs886062521
NM_003919.3(SGCE):c.538C>A (p.Leu180Ile)
NM_003919.3(SGCE):c.549_552del (p.Phe183fs) rs1554352952
NM_003919.3(SGCE):c.550C>T (p.Leu184Phe) rs761551499
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro) rs1064794321
NM_003919.3(SGCE):c.557C>G (p.Ala186Gly)
NM_003919.3(SGCE):c.557C>T (p.Ala186Val)
NM_003919.3(SGCE):c.559del (p.Ala186_Val187insTer) rs1554352906
NM_003919.3(SGCE):c.55G>A (p.Gly19Ser) rs767335346
NM_003919.3(SGCE):c.561G>A (p.Val187=) rs1194137933
NM_003919.3(SGCE):c.561G>C (p.Val187=)
NM_003919.3(SGCE):c.567T>C (p.Asn189=) rs1802334402
NM_003919.3(SGCE):c.571_572del (p.Trp191fs) rs2116881558
NM_003919.3(SGCE):c.577C>T (p.Pro193Ser)
NM_003919.3(SGCE):c.579A>G (p.Pro193=)
NM_003919.3(SGCE):c.579del (p.Glu194fs)
NM_003919.3(SGCE):c.580del (p.Glu194fs) rs2116881481
NM_003919.3(SGCE):c.583C>T (p.Arg195Cys)
NM_003919.3(SGCE):c.587T>G (p.Leu196Arg) rs121908491
NM_003919.3(SGCE):c.600C>T (p.Asn200=) rs2116881251
NM_003919.3(SGCE):c.604dup (p.Thr202fs) rs2116881189
NM_003919.3(SGCE):c.606A>C (p.Thr202=) rs148979783
NM_003919.3(SGCE):c.609G>A (p.Ser203=)
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.61G>A (p.Gly21Arg)
NM_003919.3(SGCE):c.623_650del (p.Gly208fs) rs2116880618
NM_003919.3(SGCE):c.627C>T (p.Gly209=) rs1395758109
NM_003919.3(SGCE):c.632T>G (p.Val211Gly)
NM_003919.3(SGCE):c.636A>G (p.Pro212=)
NM_003919.3(SGCE):c.639dup (p.Pro214fs)
NM_003919.3(SGCE):c.643A>G (p.Ile215Val)
NM_003919.3(SGCE):c.646A>G (p.Asn216Asp) rs2116880651
NM_003919.3(SGCE):c.651C>A (p.Asp217Glu) rs2116880601
NM_003919.3(SGCE):c.658del (p.Glu220fs) rs2116880537
NM_003919.3(SGCE):c.662+19C>T
NM_003919.3(SGCE):c.662+1G>C
NM_003919.3(SGCE):c.662+2T>A rs2116880438
NM_003919.3(SGCE):c.662G>T (p.Gly221Val) rs2116880447
NM_003919.3(SGCE):c.663-19G>T
NM_003919.3(SGCE):c.663-2A>T rs2116724997
NM_003919.3(SGCE):c.663-3C>G rs2116725021
NM_003919.3(SGCE):c.663-4_666del rs2116724823
NM_003919.3(SGCE):c.663-5T>C rs748327900
NM_003919.3(SGCE):c.663-6109_825+550del
NM_003919.3(SGCE):c.663-9dup rs757096943
NM_003919.3(SGCE):c.663C>G (p.Gly221=) rs781270494
NM_003919.3(SGCE):c.663del (p.Val222fs) rs1562812370
NM_003919.3(SGCE):c.667del (p.Tyr223fs) rs1057519246
NM_003919.3(SGCE):c.66A>G (p.Thr22=)
NM_003919.3(SGCE):c.670G>C (p.Val224Leu) rs374149816
NM_003919.3(SGCE):c.674T>C (p.Met225Thr)
NM_003919.3(SGCE):c.677T>C (p.Val226Ala) rs1799584951
NM_003919.3(SGCE):c.67C>T (p.Arg23Cys) rs774045225
NM_003919.3(SGCE):c.686A>T (p.Asp229Val)
NM_003919.3(SGCE):c.68G>T (p.Arg23Leu)
NM_003919.3(SGCE):c.693G>C (p.Pro231=)
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.710G>A (p.Arg237Gln) rs1217843572
NM_003919.3(SGCE):c.722A>G (p.Asn241Ser)
NM_003919.3(SGCE):c.723_724dup (p.Pro242fs) rs2116723835
NM_003919.3(SGCE):c.724C>T (p.Pro242Ser) rs1554345175
NM_003919.3(SGCE):c.727C>T (p.Gln243Ter) rs1554345170
NM_003919.3(SGCE):c.729G>C (p.Gln243His)
NM_003919.3(SGCE):c.731A>C (p.Asn244Thr)
NM_003919.3(SGCE):c.733C>T (p.Gln245Ter) rs1554345162
NM_003919.3(SGCE):c.734_737del (p.Gln245fs)
NM_003919.3(SGCE):c.736T>C (p.Leu246=)
NM_003919.3(SGCE):c.741A>T (p.Arg247Ser) rs1799572106
NM_003919.3(SGCE):c.742T>A (p.Cys248Ser) rs1584546494
NM_003919.3(SGCE):c.742dup (p.Cys248fs)
NM_003919.3(SGCE):c.743G>A (p.Cys248Tyr) rs2116723467
NM_003919.3(SGCE):c.749A>G (p.Gln250Arg)
NM_003919.3(SGCE):c.751G>T (p.Glu251Ter) rs2116723386
NM_003919.3(SGCE):c.754A>G (p.Met252Val)
NM_003919.3(SGCE):c.757G>A (p.Glu253Lys)
NM_003919.3(SGCE):c.770C>T (p.Thr257Ile)
NM_003919.3(SGCE):c.774_775del (p.Cys258_Asp259delinsTer)
NM_003919.3(SGCE):c.776A>T (p.Asp259Val) rs1799567842
NM_003919.3(SGCE):c.777T>G (p.Asp259Glu) rs2116723007
NM_003919.3(SGCE):c.778A>T (p.Lys260Ter)
NM_003919.3(SGCE):c.783A>G (p.Lys261=)
NM_003919.3(SGCE):c.783dup (p.Phe262fs) rs1189469219
NM_003919.3(SGCE):c.786del (p.Arg263fs) rs1584546238
NM_003919.3(SGCE):c.788G>A (p.Arg263His) rs375899729
NM_003919.3(SGCE):c.790A>G (p.Thr264Ala)
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.81C>T (p.Pro27=) rs1318367897
NM_003919.3(SGCE):c.822A>T (p.Ser274=)
NM_003919.3(SGCE):c.825+12T>C
NM_003919.3(SGCE):c.825+12T>G
NM_003919.3(SGCE):c.825+17T>C
NM_003919.3(SGCE):c.825+19T>A rs777735591
NM_003919.3(SGCE):c.825+1G>T
NM_003919.3(SGCE):c.825+1_825+2del rs1554345052
NM_003919.3(SGCE):c.826-2A>G rs1554343985
NM_003919.3(SGCE):c.826-4T>G
NM_003919.3(SGCE):c.826-6T>C
NM_003919.3(SGCE):c.827T>C (p.Val276Ala)
NM_003919.3(SGCE):c.828T>G (p.Val276=)
NM_003919.3(SGCE):c.830A>C (p.Asp277Ala) rs1799105735
NM_003919.3(SGCE):c.831T>C (p.Asp277=)
NM_003919.3(SGCE):c.835_839del (p.Thr279fs) rs863223283
NM_003919.3(SGCE):c.836C>T (p.Thr279Ile)
NM_003919.3(SGCE):c.837A>T (p.Thr279=)
NM_003919.3(SGCE):c.83C>T (p.Ala28Val)
NM_003919.3(SGCE):c.841C>T (p.Gln281Ter) rs1562806242
NM_003919.3(SGCE):c.850del (p.Thr284fs) rs2116695873
NM_003919.3(SGCE):c.852C>G (p.Thr284=)
NM_003919.3(SGCE):c.865_866insGCAGGAAGTGA (p.Ile289delinsSerArgLysTer) rs2116695697
NM_003919.3(SGCE):c.868C>A (p.Arg290Ser) rs576417569
NM_003919.3(SGCE):c.868C>G (p.Arg290Gly)
NM_003919.3(SGCE):c.871G>A (p.Gly291Arg)
NM_003919.3(SGCE):c.874G>C (p.Glu292Gln) rs1799100104
NM_003919.3(SGCE):c.876G>A (p.Glu292=)
NM_003919.3(SGCE):c.878G>C (p.Gly293Ala)
NM_003919.3(SGCE):c.880A>T (p.Ile294Phe)
NM_003919.3(SGCE):c.880dup (p.Ile294fs) rs1562805960
NM_003919.3(SGCE):c.884dup (p.Leu295fs) rs863223284
NM_003919.3(SGCE):c.890A>G (p.Asp297Gly)
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.89C>G (p.Thr30Ser)
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.906A>C (p.Lys302Asn)
NM_003919.3(SGCE):c.907C>T (p.Pro303Ser)
NM_003919.3(SGCE):c.912T>G (p.Pro304=) rs1463065030
NM_003919.3(SGCE):c.927A>T (p.Lys309Asn)
NM_003919.3(SGCE):c.933A>C (p.Arg311Ser)
NM_003919.3(SGCE):c.934G>A (p.Asp312Asn)
NM_003919.3(SGCE):c.938A>G (p.Tyr313Cys) rs1208881777
NM_003919.3(SGCE):c.941A>C (p.Tyr314Ser) rs1799081982
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.943A>G (p.Thr315Ala) rs2116694516
NM_003919.3(SGCE):c.944C>T (p.Thr315Met)
NM_003919.3(SGCE):c.946del (p.Asp316fs)
NM_003919.3(SGCE):c.956T>C (p.Ile319Thr) rs1799078606
NM_003919.3(SGCE):c.961C>A (p.Leu321Met) rs1562805321
NM_003919.3(SGCE):c.962T>C (p.Leu321Pro) rs1799076594
NM_003919.3(SGCE):c.974del (p.Ser325fs) rs1584531843
NM_003919.3(SGCE):c.996T>C (p.Phe332=)
NM_003919.3(SGCE):c.998T>C (p.Leu333Pro)
NM_004606.5(TAF1):c.1474A>T (p.Met492Leu) rs2033909793
NM_004606.5(TAF1):c.1632G>T (p.Gly544=)
NM_004606.5(TAF1):c.2551G>A (p.Ala851Thr)
NM_004606.5(TAF1):c.3796G>A (p.Gly1266Arg) rs2148443174
NM_004606.5(TAF1):c.4427A>C (p.Asp1476Ala) rs1060499594
NM_006516.4(SLC2A1):c.*1079T>G rs1426402573
NM_006516.4(SLC2A1):c.*1081T>A rs886046333
NM_006516.4(SLC2A1):c.*1147G>C rs886046332
NM_006516.4(SLC2A1):c.*1337A>G rs113441673
NM_006516.4(SLC2A1):c.*1564C>T rs1057515570
NM_006516.4(SLC2A1):c.*1611T>C rs1057515457
NM_006516.4(SLC2A1):c.*216C>T rs1643431578
NM_006516.4(SLC2A1):c.*462G>C rs4658
NM_006516.4(SLC2A1):c.*92G>A rs1266657991
NM_006516.4(SLC2A1):c.-202G>C rs1016572946
NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val) rs755946345
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.4(SLC2A1):c.1012C>T (p.Leu338Phe)
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.1023C>T (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs) rs1643457017
NM_006516.4(SLC2A1):c.1043_1044insT (p.Ile349fs) rs2124447951
NM_006516.4(SLC2A1):c.1075-14G>A rs777450540
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)
NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala) rs796053259
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met) rs796053260
NM_006516.4(SLC2A1):c.1130C>A (p.Ala377Asp)
NM_006516.4(SLC2A1):c.1135_1147del (p.Phe379fs) rs2124446490
NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser) rs2124446500
NM_006516.4(SLC2A1):c.1141del (p.Val381fs)
NM_006516.4(SLC2A1):c.1147C>T (p.Pro383Ser) rs1643442833
NM_006516.4(SLC2A1):c.115-2A>C rs2124450950
NM_006516.4(SLC2A1):c.1155C>T (p.Pro385=) rs76860965
NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser) rs1027810691
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.121G>A (p.Glu41Lys) rs769722007
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp) rs1570590876
NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile) rs2124446216
NM_006516.4(SLC2A1):c.1278+12del rs368437445
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT rs2124446051
NM_006516.4(SLC2A1):c.1286G>C (p.Cys429Ser) rs796053274
NM_006516.4(SLC2A1):c.1287_1288del (p.Cys429fs) rs2124445661
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val) rs1570590528
NM_006516.4(SLC2A1):c.132C>T (p.Tyr44=) rs886046341
NM_006516.4(SLC2A1):c.1337T>A (p.Ile446Asn)
NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile) rs1216296247
NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=) rs1469205406
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.1408G>A (p.Gly470Arg) rs572648977
NM_006516.4(SLC2A1):c.1408G>T (p.Gly470Trp) rs572648977
NM_006516.4(SLC2A1):c.141A>T (p.Thr47=) rs150863093
NM_006516.4(SLC2A1):c.1436C>A (p.Pro479His)
NM_006516.4(SLC2A1):c.1450C>T (p.His484Tyr) rs2124445324
NM_006516.4(SLC2A1):c.158G>T (p.Gly53Val) rs796053246
NM_006516.4(SLC2A1):c.161dup (p.Ser55fs)
NM_006516.4(SLC2A1):c.16A>T (p.Lys6Ter)
NM_006516.4(SLC2A1):c.18+5439G>T rs1570607542
NM_006516.4(SLC2A1):c.19-2A>G rs796053272
NM_006516.4(SLC2A1):c.194G>A (p.Trp65Ter)
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val) rs2124478725
NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe) rs1643484697
NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)
NM_006516.4(SLC2A1):c.26C>T (p.Thr9Met) rs1570601100
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=) rs202060209
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln)
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=) rs1392755923
NM_006516.4(SLC2A1):c.283_284delinsAT (p.Ser95Ile) rs267607060
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr) rs1643481875
NM_006516.4(SLC2A1):c.293del (p.Met98fs) rs1643481831
NM_006516.4(SLC2A1):c.29del (p.Gly10fs) rs2124461926
NM_006516.4(SLC2A1):c.312C>T (p.Phe104=) rs76672402
NM_006516.4(SLC2A1):c.313G>C (p.Val105Leu) rs577667739
NM_006516.4(SLC2A1):c.354C>T (p.Ser118=) rs1393465480
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.37dup (p.Met13fs) rs2124461913
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=) rs753500924
NM_006516.4(SLC2A1):c.424A>C (p.Met142Leu)
NM_006516.4(SLC2A1):c.439G>A (p.Val147Met) rs760130033
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.517-1G>C rs869312673
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser) rs1085308009
NM_006516.4(SLC2A1):c.524G>T (p.Gly175Val) rs2124449452
NM_006516.4(SLC2A1):c.554T>C (p.Leu185Pro) rs1570592942
NM_006516.4(SLC2A1):c.586C>G (p.Pro196Ala) rs2124449385
NM_006516.4(SLC2A1):c.587C>T (p.Pro196Leu) rs771352226
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg) rs2124449313
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys) rs387907312
NM_006516.4(SLC2A1):c.635del (p.Arg212fs) rs2124449287
NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val) rs2124449273
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006516.4(SLC2A1):c.679+7G>T rs13306757
NM_006516.4(SLC2A1):c.684A>G (p.Leu228=) rs2124449097
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro) rs2124449089
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.73C>A (p.Gln25Lys) rs1165759782
NM_006516.4(SLC2A1):c.750G>A (p.Gln250=) rs1553156067
NM_006516.4(SLC2A1):c.757C>T (p.Arg253Trp) rs1451575059
NM_006516.4(SLC2A1):c.75G>A (p.Gln25=) rs1557651193
NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del) rs1557645931
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) rs80359822
NM_006516.4(SLC2A1):c.791G>A (p.Arg264His) rs758919432
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His) rs1411827478
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.851T>C (p.Leu284Pro) rs2124448826
NM_006516.4(SLC2A1):c.852G>A (p.Leu284=) rs1553156049
NM_006516.4(SLC2A1):c.876_878dup (p.Tyr293_Ser294insTyr) rs2124448406
NM_006516.4(SLC2A1):c.902C>G (p.Ala301Gly) rs1425773776
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile) rs80359824
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met) rs780528770
NM_006516.4(SLC2A1):c.945C>T (p.Ile315=) rs780528770
NM_006516.4(SLC2A1):c.972+20C>G rs781545555
NM_006516.4(SLC2A1):c.972+7C>G rs1553155998
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_015488.4(PNKD):c.-65G>A rs570619432
NM_015488.5(PNKD):c.*1305A>G rs1694825559
NM_015488.5(PNKD):c.*181G>C rs73088173
NM_015488.5(PNKD):c.*212G>A rs989494170
NM_015488.5(PNKD):c.*679C>T rs1694809581
NM_015488.5(PNKD):c.*680_*681dup rs397775550
NM_015488.5(PNKD):c.1006G>A (p.Glu336Lys)
NM_015488.5(PNKD):c.1009C>T (p.Arg337Cys) rs1694784083
NM_015488.5(PNKD):c.1012T>C (p.Ser338Pro)
NM_015488.5(PNKD):c.1013_1015del (p.Ser338del)
NM_015488.5(PNKD):c.101C>G (p.Ser34Cys) rs146016925
NM_015488.5(PNKD):c.1022dup (p.Phe342fs)
NM_015488.5(PNKD):c.1023G>A (p.Pro341=) rs368559097
NM_015488.5(PNKD):c.1023G>T (p.Pro341=)
NM_015488.5(PNKD):c.1036C>T (p.His346Tyr)
NM_015488.5(PNKD):c.1040G>A (p.Cys347Tyr)
NM_015488.5(PNKD):c.1046C>T (p.Ala349Val)
NM_015488.5(PNKD):c.1052A>G (p.Gln351Arg)
NM_015488.5(PNKD):c.1057G>T (p.Ala353Ser)
NM_015488.5(PNKD):c.1068G>C (p.Pro356=) rs139193832
NM_015488.5(PNKD):c.1072C>T (p.Pro358Ser)
NM_015488.5(PNKD):c.1073del (p.Pro358fs)
NM_015488.5(PNKD):c.1078C>T (p.Pro360Ser)
NM_015488.5(PNKD):c.1079C>T (p.Pro360Leu)
NM_015488.5(PNKD):c.1081A>G (p.Thr361Ala)
NM_015488.5(PNKD):c.1091A>G (p.Asp364Gly)
NM_015488.5(PNKD):c.1095C>T (p.Asp365=)
NM_015488.5(PNKD):c.1102C>T (p.Arg368Trp) rs185906233
NM_015488.5(PNKD):c.1108C>T (p.Gln370Ter)
NM_015488.5(PNKD):c.1115T>C (p.Leu372Pro) rs1694789383
NM_015488.5(PNKD):c.1115T>G (p.Leu372Arg)
NM_015488.5(PNKD):c.1117G>A (p.Glu373Lys)
NM_015488.5(PNKD):c.112A>C (p.Thr38Pro)
NM_015488.5(PNKD):c.1135A>T (p.Lys379Ter) rs1694790443
NM_015488.5(PNKD):c.113C>T (p.Thr38Ile)
NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del) rs576363906
NM_015488.5(PNKD):c.1148del (p.Lys383fs) rs1574724140
NM_015488.5(PNKD):c.1150A>T (p.Ser384Cys) rs765841531
NM_015488.5(PNKD):c.1152C>T (p.Ser384=)
NM_015488.5(PNKD):c.115C>T (p.Arg39Trp)
NM_015488.5(PNKD):c.11T>C (p.Val4Ala)
NM_015488.5(PNKD):c.122T>C (p.Leu41Pro)
NM_015488.5(PNKD):c.129C>A (p.Ser43Arg)
NM_015488.5(PNKD):c.134G>C (p.Ser45Thr)
NM_015488.5(PNKD):c.138C>T (p.Ser46=)
NM_015488.5(PNKD):c.141A>G (p.Pro47=)
NM_015488.5(PNKD):c.147_151del (p.Lys50fs)
NM_015488.5(PNKD):c.148A>T (p.Lys50Ter) rs780594684
NM_015488.5(PNKD):c.159T>C (p.Pro53=)
NM_015488.5(PNKD):c.15A>G (p.Val5=) rs2106176403
NM_015488.5(PNKD):c.168A>G (p.Leu56=) rs2106177655
NM_015488.5(PNKD):c.174G>T (p.Pro58=) rs1427711767
NM_015488.5(PNKD):c.17C>T (p.Ala6Val) rs1559495483
NM_015488.5(PNKD):c.180G>A (p.Leu60=) rs1690829634
NM_015488.5(PNKD):c.185A>G (p.Tyr62Cys) rs2106177691
NM_015488.5(PNKD):c.196A>G (p.Lys66Glu) rs2106177705
NM_015488.5(PNKD):c.203G>C (p.Gly68Ala)
NM_015488.5(PNKD):c.203G>T (p.Gly68Val)
NM_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512
NM_015488.5(PNKD):c.211C>G (p.Pro71Ala)
NM_015488.5(PNKD):c.218A>G (p.Lys73Arg)
NM_015488.5(PNKD):c.220G>T (p.Ala74Ser) rs1690830852
NM_015488.5(PNKD):c.226G>C (p.Gly76Arg) rs1690831012
NM_015488.5(PNKD):c.229C>G (p.Leu77Val) rs1004791945
NM_015488.5(PNKD):c.22A>G (p.Thr8Ala)
NM_015488.5(PNKD):c.230T>C (p.Leu77Pro) rs752738498
NM_015488.5(PNKD):c.232_236+3del rs1690832713
NM_015488.5(PNKD):c.233C>T (p.Ala78Val) rs1201792156
NM_015488.5(PNKD):c.236+15C>A
NM_015488.5(PNKD):c.236+15C>G
NM_015488.5(PNKD):c.236+18C>T rs369983094
NM_015488.5(PNKD):c.236+6T>C rs1481240008
NM_015488.5(PNKD):c.236+8T>C
NM_015488.5(PNKD):c.237-10C>A
NM_015488.5(PNKD):c.237-11T>C
NM_015488.5(PNKD):c.237-14C>T
NM_015488.5(PNKD):c.237-4C>T
NM_015488.5(PNKD):c.237-8707G>T
NM_015488.5(PNKD):c.243C>G (p.Ser81Arg) rs540125259
NM_015488.5(PNKD):c.251C>T (p.Thr84Ile)
NM_015488.5(PNKD):c.257C>T (p.Thr86Ile)
NM_015488.5(PNKD):c.266G>C (p.Gly89Ala)
NM_015488.5(PNKD):c.268dup (p.Tyr90fs) rs2106292758
NM_015488.5(PNKD):c.26C>T (p.Ala9Val) rs121434511
NM_015488.5(PNKD):c.273C>T (p.Leu91=) rs550380646
NM_015488.5(PNKD):c.27G>A (p.Ala9=)
NM_015488.5(PNKD):c.280C>A (p.Arg94=) rs754138242
NM_015488.5(PNKD):c.292C>A (p.Arg98Ser)
NM_015488.5(PNKD):c.293G>A (p.Arg98His) rs201495280
NM_015488.5(PNKD):c.293G>T (p.Arg98Leu) rs201495280
NM_015488.5(PNKD):c.2T>G (p.Met1Arg) rs775653461
NM_015488.5(PNKD):c.302G>C (p.Arg101Pro) rs368934552
NM_015488.5(PNKD):c.309C>A (p.Arg103=) rs2106292815
NM_015488.5(PNKD):c.311A>T (p.Tyr104Phe)
NM_015488.5(PNKD):c.312C>A (p.Tyr104Ter)
NM_015488.5(PNKD):c.312_316del (p.Tyr104_Lys106delinsTer)
NM_015488.5(PNKD):c.314C>T (p.Pro105Leu)
NM_015488.5(PNKD):c.318A>T (p.Lys106Asn) rs1421249273
NM_015488.5(PNKD):c.320G>C (p.Gly107Ala) rs2106292830
NM_015488.5(PNKD):c.320G>T (p.Gly107Val) rs2106292830
NM_015488.5(PNKD):c.322C>A (p.His108Asn) rs1694617621
NM_015488.5(PNKD):c.327G>A (p.Ser109=) rs766828848
NM_015488.5(PNKD):c.333C>G (p.Thr111=) rs1239020217
NM_015488.5(PNKD):c.33G>A (p.Lys11=) rs1553654482
NM_015488.5(PNKD):c.348C>G (p.Phe116Leu) rs1437287362
NM_015488.5(PNKD):c.352+13_352+15del
NM_015488.5(PNKD):c.352+18C>T
NM_015488.5(PNKD):c.353-16C>A rs2106293104
NM_015488.5(PNKD):c.353-2A>G
NM_015488.5(PNKD):c.353-6C>T rs1694625432
NM_015488.5(PNKD):c.353-9T>G rs2106293111
NM_015488.5(PNKD):c.356T>C (p.Val119Ala)
NM_015488.5(PNKD):c.359A>G (p.Lys120Arg)
NM_015488.5(PNKD):c.35G>A (p.Gly12Asp)
NM_015488.5(PNKD):c.368C>T (p.Pro123Leu) rs1694626257
NM_015488.5(PNKD):c.369del (p.Ile124fs)
NM_015488.5(PNKD):c.369dup (p.Ile124fs)
NM_015488.5(PNKD):c.36C>T (p.Gly12=)
NM_015488.5(PNKD):c.371T>A (p.Ile124Asn) rs762861678
NM_015488.5(PNKD):c.371T>C (p.Ile124Thr) rs762861678
NM_015488.5(PNKD):c.375T>C (p.Pro125=) rs940846331
NM_015488.5(PNKD):c.382T>C (p.Ser128Pro)
NM_015488.5(PNKD):c.384G>C (p.Ser128=)
NM_015488.5(PNKD):c.392A>G (p.Tyr131Cys)
NM_015488.5(PNKD):c.408C>G (p.Ile136Met) rs763052723
NM_015488.5(PNKD):c.408C>T (p.Ile136=)
NM_015488.5(PNKD):c.40G>A (p.Gly14Arg) rs1690790020
NM_015488.5(PNKD):c.414C>G (p.Thr138=) rs2106293207
NM_015488.5(PNKD):c.415C>G (p.Gln139Glu)
NM_015488.5(PNKD):c.415C>T (p.Gln139Ter) rs372675235
NM_015488.5(PNKD):c.427G>A (p.Ala143Thr) rs754958157
NM_015488.5(PNKD):c.427G>C (p.Ala143Pro)
NM_015488.5(PNKD):c.427G>T (p.Ala143Ser)
NM_015488.5(PNKD):c.428C>G (p.Ala143Gly)
NM_015488.5(PNKD):c.42G>A (p.Gly14=) rs955860203
NM_015488.5(PNKD):c.435T>C (p.Ala145=)
NM_015488.5(PNKD):c.436G>A (p.Val146Met)
NM_015488.5(PNKD):c.43dup (p.Ala15fs) rs777779692
NM_015488.5(PNKD):c.441C>G (p.Asp147Glu)
NM_015488.5(PNKD):c.442C>A (p.Pro148Thr) rs545078283
NM_015488.5(PNKD):c.442C>G (p.Pro148Ala) rs545078283
NM_015488.5(PNKD):c.448G>T (p.Asp150Tyr)
NM_015488.5(PNKD):c.453T>G (p.Pro151=)
NM_015488.5(PNKD):c.45G>A (p.Ala15=)
NM_015488.5(PNKD):c.462G>A (p.Val154=) rs2106293300
NM_015488.5(PNKD):c.465+2T>G rs1230004320
NM_015488.5(PNKD):c.465+3G>A rs1313298373
NM_015488.5(PNKD):c.465G>C (p.Gln155His)
NM_015488.5(PNKD):c.466-10T>C rs1694647158
NM_015488.5(PNKD):c.466-15T>A
NM_015488.5(PNKD):c.466-5C>G rs745435962
NM_015488.5(PNKD):c.466-7C>T rs780814768
NM_015488.5(PNKD):c.466-9C>G
NM_015488.5(PNKD):c.46A>G (p.Arg16Gly) rs934430255
NM_015488.5(PNKD):c.471C>T (p.Ser157=)
NM_015488.5(PNKD):c.479A>G (p.Lys160Arg) rs1694648277
NM_015488.5(PNKD):c.47G>T (p.Arg16Ile) rs1553654496
NM_015488.5(PNKD):c.481G>A (p.Glu161Lys)
NM_015488.5(PNKD):c.48A>G (p.Arg16=)
NM_015488.5(PNKD):c.490A>G (p.Thr164Ala) rs2106294008
NM_015488.5(PNKD):c.49_53del (p.Asn17fs)
NM_015488.5(PNKD):c.500C>T (p.Ala167Val) rs2106294018
NM_015488.5(PNKD):c.505C>A (p.Leu169Met) rs2106294020
NM_015488.5(PNKD):c.524+11C>T
NM_015488.5(PNKD):c.524+17T>C
NM_015488.5(PNKD):c.524+8G>T rs1464064363
NM_015488.5(PNKD):c.525-11C>A
NM_015488.5(PNKD):c.525-18G>A rs956409257
NM_015488.5(PNKD):c.526G>A (p.Asp176Asn) rs1553674143
NM_015488.5(PNKD):c.528C>A (p.Asp176Glu)
NM_015488.5(PNKD):c.531C>T (p.His177=) rs2106294834
NM_015488.5(PNKD):c.532A>C (p.Ser178Arg)
NM_015488.5(PNKD):c.533G>C (p.Ser178Thr)
NM_015488.5(PNKD):c.536G>T (p.Gly179Val) rs1694676356
NM_015488.5(PNKD):c.538G>A (p.Gly180Arg) rs1694676419
NM_015488.5(PNKD):c.53C>T (p.Ala18Val)
NM_015488.5(PNKD):c.545G>A (p.Arg182His)
NM_015488.5(PNKD):c.550C>T (p.Leu184Phe)
NM_015488.5(PNKD):c.554G>C (p.Ser185Thr)
NM_015488.5(PNKD):c.556C>T (p.Arg186Trp)
NM_015488.5(PNKD):c.55C>G (p.Arg19Gly) rs1690790863
NM_015488.5(PNKD):c.55C>T (p.Arg19Cys) rs1690790863
NM_015488.5(PNKD):c.55dup (p.Arg19fs)
NM_015488.5(PNKD):c.560G>A (p.Arg187Gln) rs141506076
NM_015488.5(PNKD):c.566G>T (p.Arg189Leu) rs199987826
NM_015488.5(PNKD):c.568G>A (p.Asp190Asn) rs1256960832
NM_015488.5(PNKD):c.568G>T (p.Asp190Tyr)
NM_015488.5(PNKD):c.575G>A (p.Arg192Gln)
NM_015488.5(PNKD):c.576G>A (p.Arg192=)
NM_015488.5(PNKD):c.579G>A (p.Val193=) rs1378240041
NM_015488.5(PNKD):c.582C>T (p.Tyr194=)
NM_015488.5(PNKD):c.585del (p.Ser196fs) rs761519363
NM_015488.5(PNKD):c.587G>C (p.Ser196Thr) rs1341663022
NM_015488.5(PNKD):c.595G>A (p.Asp199Asn) rs1694679310
NM_015488.5(PNKD):c.599G>C (p.Gly200Ala)
NM_015488.5(PNKD):c.609C>T (p.Tyr203=)
NM_015488.5(PNKD):c.610C>G (p.Leu204Val)
NM_015488.5(PNKD):c.612C>T (p.Leu204=) rs1574720024
NM_015488.5(PNKD):c.614C>A (p.Thr205Asn)
NM_015488.5(PNKD):c.617+17G>A
NM_015488.5(PNKD):c.617+5G>C rs1553674205
NM_015488.5(PNKD):c.618-2A>G
NM_015488.5(PNKD):c.618-7T>G
NM_015488.5(PNKD):c.628C>A (p.His210Asn) rs886055620
NM_015488.5(PNKD):c.630T>G (p.His210Gln) rs1694691035
NM_015488.5(PNKD):c.637G>A (p.Val213Met)
NM_015488.5(PNKD):c.641_649del (p.Val214_Val216del) rs1694691273
NM_015488.5(PNKD):c.652C>T (p.Arg218Trp) rs34745867
NM_015488.5(PNKD):c.658C>G (p.Gln220Glu)
NM_015488.5(PNKD):c.663C>G (p.Ile221Met) rs749437540
NM_015488.5(PNKD):c.667G>A (p.Ala223Thr)
NM_015488.5(PNKD):c.67+12G>A
NM_015488.5(PNKD):c.67+16C>G
NM_015488.5(PNKD):c.67+19G>C rs1357502016
NM_015488.5(PNKD):c.67+1G>C rs1287473807
NM_015488.5(PNKD):c.67+3A>G rs1690791696
NM_015488.5(PNKD):c.68-14A>G
NM_015488.5(PNKD):c.692A>C (p.Gln231Pro) rs1694693946
NM_015488.5(PNKD):c.693del (p.Gly232fs) rs773192502
NM_015488.5(PNKD):c.696C>A (p.Gly232=)
NM_015488.5(PNKD):c.699T>C (p.His233=)
NM_015488.5(PNKD):c.6G>T (p.Ala2=) rs2106176364
NM_015488.5(PNKD):c.716A>T (p.Asp239Val) rs1553674341
NM_015488.5(PNKD):c.718G>A (p.Gly240Arg)
NM_015488.5(PNKD):c.724C>T (p.Pro242Ser) rs1694695921
NM_015488.5(PNKD):c.733G>T (p.Gly245Cys) rs769143232
NM_015488.5(PNKD):c.738C>T (p.Pro246=)
NM_015488.5(PNKD):c.745C>T (p.Leu249Phe) rs1199556893
NM_015488.5(PNKD):c.758A>T (p.Asp253Val)
NM_015488.5(PNKD):c.768C>A (p.Phe256Leu)
NM_015488.5(PNKD):c.76G>A (p.Ala26Thr) rs1222343109
NM_015488.5(PNKD):c.76_103del (p.Ala26fs) rs780123062
NM_015488.5(PNKD):c.770T>C (p.Leu257Pro)
NM_015488.5(PNKD):c.773C>T (p.Ser258Phe) rs777714592
NM_015488.5(PNKD):c.77C>T (p.Ala26Val)
NM_015488.5(PNKD):c.781+12C>G rs370963150
NM_015488.5(PNKD):c.781+13G>C rs201802667
NM_015488.5(PNKD):c.781+16AG[3] rs373351932
NM_015488.5(PNKD):c.781+17G>A rs566000311
NM_015488.5(PNKD):c.781+19G>A rs768075145
NM_015488.5(PNKD):c.782-15C>G rs1694740535
NM_015488.5(PNKD):c.782-7C>T rs773884627
NM_015488.5(PNKD):c.789C>T (p.Thr263=)
NM_015488.5(PNKD):c.793G>A (p.Glu265Lys)
NM_015488.5(PNKD):c.795G>T (p.Glu265Asp)
NM_015488.5(PNKD):c.79G>A (p.Gly27Arg)
NM_015488.5(PNKD):c.801T>G (p.Asn267Lys)
NM_015488.5(PNKD):c.822A>G (p.Ser274=) rs2106297256
NM_015488.5(PNKD):c.827A>C (p.Asp276Ala)
NM_015488.5(PNKD):c.833_834del (p.Val278fs)
NM_015488.5(PNKD):c.839G>A (p.Gly280Glu) rs766132328
NM_015488.5(PNKD):c.841C>A (p.Leu281Ile)
NM_015488.5(PNKD):c.855C>A (p.Thr285=)
NM_015488.5(PNKD):c.855C>T (p.Thr285=) rs778631207
NM_015488.5(PNKD):c.857T>C (p.Leu286Pro)
NM_015488.5(PNKD):c.864G>A (p.Trp288Ter)
NM_015488.5(PNKD):c.868+18T>C
NM_015488.5(PNKD):c.868+7C>T rs1574722529
NM_015488.5(PNKD):c.868+8_868+20del rs2106297333
NM_015488.5(PNKD):c.869-15C>G
NM_015488.5(PNKD):c.869-17C>G
NM_015488.5(PNKD):c.869-6C>T
NM_015488.5(PNKD):c.872A>C (p.His291Pro)
NM_015488.5(PNKD):c.876G>C (p.Glu292Asp)
NM_015488.5(PNKD):c.876G>T (p.Glu292Asp)
NM_015488.5(PNKD):c.878A>G (p.Tyr293Cys) rs1694770280
NM_015488.5(PNKD):c.894G>A (p.Leu298=)
NM_015488.5(PNKD):c.8C>T (p.Ala3Val) rs751631915
NM_015488.5(PNKD):c.902C>T (p.Ala301Val) rs2106298348
NM_015488.5(PNKD):c.905G>A (p.Gly302Asp)
NM_015488.5(PNKD):c.906T>G (p.Gly302=)
NM_015488.5(PNKD):c.910G>A (p.Val304Met)
NM_015488.5(PNKD):c.916C>T (p.Pro306Ser) rs1247054660
NM_015488.5(PNKD):c.926T>C (p.Leu309Pro)
NM_015488.5(PNKD):c.930C>A (p.Ala310=) rs146224183
NM_015488.5(PNKD):c.930C>G (p.Ala310=) rs146224183
NM_015488.5(PNKD):c.931C>G (p.Arg311Gly)
NM_015488.5(PNKD):c.936G>A (p.Glu312=)
NM_015488.5(PNKD):c.937A>T (p.Arg313Trp) rs2106298400
NM_015488.5(PNKD):c.948G>A (p.Gln316=)
NM_015488.5(PNKD):c.949T>C (p.Trp317Arg)
NM_015488.5(PNKD):c.953T>G (p.Val318Gly)
NM_015488.5(PNKD):c.958C>G (p.Arg320Gly)
NM_015488.5(PNKD):c.962A>G (p.Gln321Arg)
NM_015488.5(PNKD):c.972G>A (p.Glu324=)
NM_015488.5(PNKD):c.978G>A (p.Lys326=)
NM_015488.5(PNKD):c.97G>T (p.Ala33Ser) rs121434513
NM_015488.5(PNKD):c.982A>T (p.Thr328Ser) rs1225358282
NM_015488.5(PNKD):c.984+14G>A
NM_015488.5(PNKD):c.984+14_984+15del rs754161794
NM_015488.5(PNKD):c.984+18C>T
NM_015488.5(PNKD):c.984+2T>G
NM_015488.5(PNKD):c.985-1G>C rs1694783221
NM_015488.5(PNKD):c.989C>T (p.Pro330Leu)
NM_015488.5(PNKD):c.994A>G (p.Thr332Ala)
NM_015488.5(PNKD):c.999G>A (p.Leu333=)
NM_015488.5(PNKD):c.99T>G (p.Ala33=)
NM_015836.4(WARS2):c.148G>T (p.Gly50Cys) rs11552864
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.368T>G (p.Leu123Ter)
NM_015836.4(WARS2):c.622G>T (p.Glu208Ter) rs137890886
NM_015836.4(WARS2):c.683C>G (p.Ser228Trp) rs1647600390
NM_015836.4(WARS2):c.797del (p.Pro266fs) rs746478253
NM_015836.4(WARS2):c.882C>A (p.Ser294Arg)
NM_145239.3(PRRT2):c.-20_18del (p.Met1fs)
NM_145239.3(PRRT2):c.1004A>C (p.Asn335Thr)
NM_145239.3(PRRT2):c.1004A>G (p.Asn335Ser)
NM_145239.3(PRRT2):c.1007del (p.Asn335_Leu336insTer)
NM_145239.3(PRRT2):c.1010G>A (p.Gly337Asp) rs1900144446
NM_145239.3(PRRT2):c.1012+11G>C
NM_145239.3(PRRT2):c.1012+15G>A
NM_145239.3(PRRT2):c.1012+2T>C
NM_145239.3(PRRT2):c.1012+2T>G
NM_145239.3(PRRT2):c.1012+58_1013del rs1900147386
NM_145239.3(PRRT2):c.1012+5G>T rs2142429667
NM_145239.3(PRRT2):c.1012+6T>C rs775846239
NM_145239.3(PRRT2):c.1012+7G>A rs760453229
NM_145239.3(PRRT2):c.1012G>A (p.Val338Met) rs772116016
NM_145239.3(PRRT2):c.1013-10T>C rs1426270109
NM_145239.3(PRRT2):c.1013-14C>G
NM_145239.3(PRRT2):c.1013-17C>T
NM_145239.3(PRRT2):c.1013-18C>T rs1900154550
NM_145239.3(PRRT2):c.1013-2A>G rs1596895005
NM_145239.3(PRRT2):c.1013-3C>A
NM_145239.3(PRRT2):c.1013-5C>G rs2142430404
NM_145239.3(PRRT2):c.1013T>A (p.Val338Glu) rs144540943
NM_145239.3(PRRT2):c.1014G>A (p.Val338=)
NM_145239.3(PRRT2):c.1017T>C (p.Tyr339=)
NM_145239.3(PRRT2):c.101C>T (p.Pro34Leu)
NM_145239.3(PRRT2):c.1021T>C (p.Ter341Arg) rs1403034524
NM_145239.3(PRRT2):c.1023A>G (p.Ter341Trp)
NM_145239.3(PRRT2):c.102T>C (p.Pro34=)
NM_145239.3(PRRT2):c.105C>T (p.Pro35=)
NM_145239.3(PRRT2):c.106C>A (p.Gln36Lys)
NM_145239.3(PRRT2):c.106del (p.Gln36fs) rs1596889984
NM_145239.3(PRRT2):c.116C>T (p.Ala39Val)
NM_145239.3(PRRT2):c.118G>A (p.Gly40Arg) rs1193212149
NM_145239.3(PRRT2):c.121del (p.Val41fs)
NM_145239.3(PRRT2):c.124C>T (p.Pro42Ser)
NM_145239.3(PRRT2):c.128A>G (p.Asp43Gly)
NM_145239.3(PRRT2):c.12C>A (p.Ser4Arg) rs757148846
NM_145239.3(PRRT2):c.136G>A (p.Glu46Lys)
NM_145239.3(PRRT2):c.138G>A (p.Glu46=)
NM_145239.3(PRRT2):c.143C>T (p.Pro48Leu) rs539726929
NM_145239.3(PRRT2):c.145C>G (p.Gln49Glu)
NM_145239.3(PRRT2):c.15C>T (p.Ser5=) rs2142421996
NM_145239.3(PRRT2):c.15CTCTGAGAT[3] (p.Ile8_Glu10dup) rs757994031
NM_145239.3(PRRT2):c.161C>G (p.Thr54Ser)
NM_145239.3(PRRT2):c.165T>G (p.Thr55=) rs754536441
NM_145239.3(PRRT2):c.170C>A (p.Ala57Asp) rs1262636745
NM_145239.3(PRRT2):c.170C>T (p.Ala57Val)
NM_145239.3(PRRT2):c.172C>T (p.Pro58Ser) rs540005714
NM_145239.3(PRRT2):c.173C>G (p.Pro58Arg) rs1567378768
NM_145239.3(PRRT2):c.176T>A (p.Val59Glu) rs1900066714
NM_145239.3(PRRT2):c.17C>T (p.Ser6Phe)
NM_145239.3(PRRT2):c.185G>T (p.Gly62Val)
NM_145239.3(PRRT2):c.186G>T (p.Gly62=)
NM_145239.3(PRRT2):c.189del (p.Lys64fs) rs1900067836
NM_145239.3(PRRT2):c.194C>G (p.Ala65Gly)
NM_145239.3(PRRT2):c.198G>C (p.Gly66=)
NM_145239.3(PRRT2):c.210A>G (p.Glu70=) rs774824201
NM_145239.3(PRRT2):c.210_211del (p.Glu70fs) rs886041579
NM_145239.3(PRRT2):c.211A>T (p.Thr71Ser) rs1900069646
NM_145239.3(PRRT2):c.215C>G (p.Thr72Arg)
NM_145239.3(PRRT2):c.219G>A (p.Glu73=)
NM_145239.3(PRRT2):c.221C>A (p.Thr74Asn) rs1394261454
NM_145239.3(PRRT2):c.222C>G (p.Thr74=) rs1555502624
NM_145239.3(PRRT2):c.224dup (p.Ala76fs) rs2142423194
NM_145239.3(PRRT2):c.226G>A (p.Ala76Thr) rs1900070727
NM_145239.3(PRRT2):c.232G>A (p.Ala78Thr) rs1239520299
NM_145239.3(PRRT2):c.248A>C (p.Gln83Pro)
NM_145239.3(PRRT2):c.251C>A (p.Ala84Asp)
NM_145239.3(PRRT2):c.258C>T (p.Asp86=)
NM_145239.3(PRRT2):c.259C>G (p.Leu87Val) rs1596890511
NM_145239.3(PRRT2):c.268A>G (p.Ser90Gly) rs1900072671
NM_145239.3(PRRT2):c.268dup (p.Ser90fs) rs2142423439
NM_145239.3(PRRT2):c.270C>A (p.Ser90Arg) rs1900072947
NM_145239.3(PRRT2):c.273A>G (p.Pro91=)
NM_145239.3(PRRT2):c.274G>A (p.Gly92Arg) rs1900073708
NM_145239.3(PRRT2):c.275G>A (p.Gly92Glu)
NM_145239.3(PRRT2):c.279G>A (p.Gly93=) rs1596890586
NM_145239.3(PRRT2):c.27dup (p.Glu10Ter) rs1900057283
NM_145239.3(PRRT2):c.280G>A (p.Glu94Lys) rs2142423546
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.288G>A (p.Lys96=) rs746270404
NM_145239.3(PRRT2):c.293A>G (p.Asn98Ser) rs758787026
NM_145239.3(PRRT2):c.296G>A (p.Cys99Tyr) rs780627568
NM_145239.3(PRRT2):c.298del (p.Ser100fs)
NM_145239.3(PRRT2):c.299G>A (p.Ser100Asn) rs1596890680
NM_145239.3(PRRT2):c.29A>T (p.Glu10Val)
NM_145239.3(PRRT2):c.300C>T (p.Ser100=)
NM_145239.3(PRRT2):c.303del (p.Glu102fs) rs1596890692
NM_145239.3(PRRT2):c.304del (p.Glu102fs) rs1567379016
NM_145239.3(PRRT2):c.30G>A (p.Glu10=) rs2142422073
NM_145239.3(PRRT2):c.310C>T (p.Pro104Ser)
NM_145239.3(PRRT2):c.319G>A (p.Glu107Lys)
NM_145239.3(PRRT2):c.31A>C (p.Met11Leu)
NM_145239.3(PRRT2):c.322A>T (p.Thr108Ser) rs766161876
NM_145239.3(PRRT2):c.323C>G (p.Thr108Arg)
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.324A>T (p.Thr108=) rs2142423838
NM_145239.3(PRRT2):c.342G>T (p.Val114=)
NM_145239.3(PRRT2):c.344G>A (p.Ser115Asn)
NM_145239.3(PRRT2):c.347_348del (p.Lys116fs)
NM_145239.3(PRRT2):c.349G>C (p.Glu117Gln) rs1900078271
NM_145239.3(PRRT2):c.34A>G (p.Lys12Glu)
NM_145239.3(PRRT2):c.353C>A (p.Ala118Asp)
NM_145239.3(PRRT2):c.354C>T (p.Ala118=) rs1241694336
NM_145239.3(PRRT2):c.359C>T (p.Ala120Val)
NM_145239.3(PRRT2):c.361G>T (p.Asp121Tyr)
NM_145239.3(PRRT2):c.364C>A (p.Gln122Lys) rs1555502665
NM_145239.3(PRRT2):c.364C>T (p.Gln122Ter) rs1555502665
NM_145239.3(PRRT2):c.368G>T (p.Gly123Val) rs758798693
NM_145239.3(PRRT2):c.369G>T (p.Gly123=) rs1057521000
NM_145239.3(PRRT2):c.370T>A (p.Ser124Thr) rs1191221100
NM_145239.3(PRRT2):c.375G>C (p.Arg125Ser) rs1900080039
NM_145239.3(PRRT2):c.37G>A (p.Gly13Arg) rs770164221
NM_145239.3(PRRT2):c.382T>A (p.Ser128Thr)
NM_145239.3(PRRT2):c.38G>A (p.Gly13Glu)
NM_145239.3(PRRT2):c.39G>A (p.Gly13=) rs2142422128
NM_145239.3(PRRT2):c.401C>G (p.Pro134Arg) rs1900081697
NM_145239.3(PRRT2):c.404_427del (p.Ala135_Pro142del) rs779565135
NM_145239.3(PRRT2):c.407_408del (p.Pro136fs)
NM_145239.3(PRRT2):c.40G>A (p.Val14Ile)
NM_145239.3(PRRT2):c.411G>A (p.Glu137=)
NM_145239.3(PRRT2):c.417T>C (p.Ala139=) rs1596891097
NM_145239.3(PRRT2):c.418C>A (p.Pro140Thr)
NM_145239.3(PRRT2):c.418C>T (p.Pro140Ser) rs1365777114
NM_145239.3(PRRT2):c.420C>G (p.Pro140=)
NM_145239.3(PRRT2):c.422_432dup (p.Arg145fs)
NM_145239.3(PRRT2):c.425C>T (p.Pro142Leu)
NM_145239.3(PRRT2):c.427G>T (p.Asp143Tyr)
NM_145239.3(PRRT2):c.430C>T (p.Pro144Ser) rs150501365
NM_145239.3(PRRT2):c.434G>T (p.Arg145Leu)
NM_145239.3(PRRT2):c.435G>A (p.Arg145=)
NM_145239.3(PRRT2):c.435G>T (p.Arg145=) rs2142424494
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr) rs1900084663
NM_145239.3(PRRT2):c.43G>A (p.Glu15Lys)
NM_145239.3(PRRT2):c.449C>G (p.Pro150Arg)
NM_145239.3(PRRT2):c.449dup (p.Thr151fs) rs1900085480
NM_145239.3(PRRT2):c.455C>T (p.Pro152Leu)
NM_145239.3(PRRT2):c.456del (p.Lys153fs)
NM_145239.3(PRRT2):c.457_458del (p.Lys153fs)
NM_145239.3(PRRT2):c.459G>A (p.Lys153=) rs887187368
NM_145239.3(PRRT2):c.460C>T (p.Pro154Ser) rs571941412
NM_145239.3(PRRT2):c.466C>T (p.Leu156Phe)
NM_145239.3(PRRT2):c.469C>T (p.Gln157Ter)
NM_145239.3(PRRT2):c.46G>C (p.Glu16Gln) rs777959783
NM_145239.3(PRRT2):c.471A>C (p.Gln157His)
NM_145239.3(PRRT2):c.475G>A (p.Glu159Lys)
NM_145239.3(PRRT2):c.483_487dup (p.Gln163fs)
NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter) rs387907127
NM_145239.3(PRRT2):c.493G>T (p.Asp165Tyr)
NM_145239.3(PRRT2):c.495C>T (p.Asp165=)
NM_145239.3(PRRT2):c.498C>T (p.Pro166=) rs756252121
NM_145239.3(PRRT2):c.49_50del (p.Pro18fs)
NM_145239.3(PRRT2):c.500C>T (p.Thr167Ile)
NM_145239.3(PRRT2):c.503C>T (p.Pro168Leu) rs1259344322
NM_145239.3(PRRT2):c.503del (p.Pro168fs) rs2142424961
NM_145239.3(PRRT2):c.506A>G (p.Glu169Gly) rs2142425015
NM_145239.3(PRRT2):c.509T>G (p.Ile170Ser) rs1900089706
NM_145239.3(PRRT2):c.510dup (p.Leu171fs) rs397515576
NM_145239.3(PRRT2):c.514_517del (p.Ser172fs) rs730882065
NM_145239.3(PRRT2):c.516dup (p.Glu173Ter) rs730882068
NM_145239.3(PRRT2):c.519G>A (p.Glu173=) rs372588022
NM_145239.3(PRRT2):c.520_521del (p.Ser174fs)
NM_145239.3(PRRT2):c.521_530del (p.Ser174fs)
NM_145239.3(PRRT2):c.524T>C (p.Val175Ala) rs1162557576
NM_145239.3(PRRT2):c.52C>A (p.Pro18Thr)
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.545G>A (p.Gly182Glu) rs2142425204
NM_145239.3(PRRT2):c.546G>A (p.Gly182=)
NM_145239.3(PRRT2):c.547G>T (p.Ala183Ser) rs770599131
NM_145239.3(PRRT2):c.547dup (p.Ala183fs)
NM_145239.3(PRRT2):c.549A>T (p.Ala183=)
NM_145239.3(PRRT2):c.553G>C (p.Val185Leu)
NM_145239.3(PRRT2):c.55A>T (p.Lys19Ter)
NM_145239.3(PRRT2):c.562C>T (p.Gln188Ter) rs397514578
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.3(PRRT2):c.567T>A (p.Ala189=)
NM_145239.3(PRRT2):c.569G>C (p.Gly190Ala) rs1366259234
NM_145239.3(PRRT2):c.571G>T (p.Asp191Tyr) rs2142425379
NM_145239.3(PRRT2):c.579dup (p.Glu194fs) rs1900093244
NM_145239.3(PRRT2):c.581A>C (p.Glu194Ala)
NM_145239.3(PRRT2):c.584G>A (p.Gly195Asp)
NM_145239.3(PRRT2):c.58G>A (p.Val20Ile)
NM_145239.3(PRRT2):c.591C>T (p.Ala197=) rs958471607
NM_145239.3(PRRT2):c.593_594del (p.Pro198fs) rs1260966131
NM_145239.3(PRRT2):c.597G>A (p.Glu199=)
NM_145239.3(PRRT2):c.597G>C (p.Glu199Asp) rs761568078
NM_145239.3(PRRT2):c.598C>T (p.Pro200Ser) rs1271275084
NM_145239.3(PRRT2):c.5C>A (p.Ala2Glu)
NM_145239.3(PRRT2):c.602A>C (p.His201Pro)
NM_145239.3(PRRT2):c.603C>T (p.His201=) rs543313284
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs) rs1064793851
NM_145239.3(PRRT2):c.623C>A (p.Ser208Tyr) rs201409113
NM_145239.3(PRRT2):c.623C>G (p.Ser208Cys)
NM_145239.3(PRRT2):c.623C>T (p.Ser208Phe) rs201409113
NM_145239.3(PRRT2):c.629C>T (p.Pro210Leu)
NM_145239.3(PRRT2):c.629del (p.Pro210fs) rs730882067
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) rs730882067
NM_145239.3(PRRT2):c.638G>T (p.Gly213Val)
NM_145239.3(PRRT2):c.639_640insC (p.Ala214fs) rs2142425874
NM_145239.3(PRRT2):c.640dup (p.Ala214fs)
NM_145239.3(PRRT2):c.641C>A (p.Ala214Asp) rs1299324384
NM_145239.3(PRRT2):c.645C>A (p.Pro215=)
NM_145239.3(PRRT2):c.647C>A (p.Pro216His) rs76335820
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.648C>T (p.Pro216=) rs772805935
NM_145239.3(PRRT2):c.649C>A (p.Arg217=) rs77838305
NM_145239.3(PRRT2):c.649C>G (p.Arg217Gly) rs77838305
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.64G>A (p.Gly22Ser) rs1900059601
NM_145239.3(PRRT2):c.650G>C (p.Arg217Pro)
NM_145239.3(PRRT2):c.653T>G (p.Val218Gly) rs2142426094
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.65G>A (p.Gly22Asp)
NM_145239.3(PRRT2):c.661C>T (p.Gln221Ter) rs1567379819
NM_145239.3(PRRT2):c.663G>C (p.Gln221His)
NM_145239.3(PRRT2):c.667G>A (p.Val223Ile) rs2142426155
NM_145239.3(PRRT2):c.674A>G (p.Glu225Gly) rs1057518890
NM_145239.3(PRRT2):c.679C>T (p.Arg227Ter)
NM_145239.3(PRRT2):c.689G>A (p.Arg230Lys)
NM_145239.3(PRRT2):c.696C>G (p.His232Gln)
NM_145239.3(PRRT2):c.696C>T (p.His232=) rs570108715
NM_145239.3(PRRT2):c.697_698del (p.Ser233fs) rs1596892401
NM_145239.3(PRRT2):c.702G>A (p.Gly234=) rs765496456
NM_145239.3(PRRT2):c.713C>G (p.Ser238Cys)
NM_145239.3(PRRT2):c.715C>T (p.Pro239Ser)
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.71G>A (p.Gly24Glu)
NM_145239.3(PRRT2):c.721G>A (p.Gly241Ser) rs1376127932
NM_145239.3(PRRT2):c.723T>C (p.Gly241=) rs1047553508
NM_145239.3(PRRT2):c.729G>A (p.Leu243=) rs780035379
NM_145239.3(PRRT2):c.729G>C (p.Leu243=) rs780035379
NM_145239.3(PRRT2):c.733_744del (p.Arg245_Ser248del) rs1900106653
NM_145239.3(PRRT2):c.739_740delinsAT (p.Pro247Ile) rs2142426556
NM_145239.3(PRRT2):c.739_740delinsG (p.Pro247fs)
NM_145239.3(PRRT2):c.740C>G (p.Pro247Arg)
NM_145239.3(PRRT2):c.741C>G (p.Pro247=)
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.745T>C (p.Ser249Pro) rs944092875
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter) rs397514579
NM_145239.3(PRRT2):c.74C>G (p.Pro25Arg)
NM_145239.3(PRRT2):c.74C>T (p.Pro25Leu)
NM_145239.3(PRRT2):c.757G>A (p.Gly253Ser) rs1567379996
NM_145239.3(PRRT2):c.759T>C (p.Gly253=)
NM_145239.3(PRRT2):c.761C>G (p.Pro254Arg)
NM_145239.3(PRRT2):c.761C>T (p.Pro254Leu)
NM_145239.3(PRRT2):c.764G>A (p.Gly255Glu) rs913445669
NM_145239.3(PRRT2):c.765G>A (p.Gly255=)
NM_145239.3(PRRT2):c.766G>A (p.Val256Met) rs761038109
NM_145239.3(PRRT2):c.767T>A (p.Val256Glu) rs1200230935
NM_145239.3(PRRT2):c.769G>A (p.Glu257Lys) rs2142426795
NM_145239.3(PRRT2):c.769_778del (p.Glu257fs) rs886041960
NM_145239.3(PRRT2):c.76G>T (p.Gly26Cys) rs2142422369
NM_145239.3(PRRT2):c.772G>A (p.Gly258Arg)
NM_145239.3(PRRT2):c.772G>C (p.Gly258Arg) rs996840274
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.789G>A (p.Gln263=)
NM_145239.3(PRRT2):c.793C>A (p.Pro265Thr) rs1900112848
NM_145239.3(PRRT2):c.799del (p.Asp267fs) rs1567380076
NM_145239.3(PRRT2):c.802_804del (p.Tyr268del) rs1567380086
NM_145239.3(PRRT2):c.807C>A (p.Ile269=)
NM_145239.3(PRRT2):c.809T>A (p.Ile270Asn) rs1900113819
NM_145239.3(PRRT2):c.810C>A (p.Ile270=)
NM_145239.3(PRRT2):c.819C>T (p.Ile273=)
NM_145239.3(PRRT2):c.82T>C (p.Ser28Pro) rs1900060891
NM_145239.3(PRRT2):c.834C>A (p.Cys278Ter) rs758654999
NM_145239.3(PRRT2):c.83C>G (p.Ser28Cys) rs1900061006
NM_145239.3(PRRT2):c.840G>A (p.Met280Ile)
NM_145239.3(PRRT2):c.841T>C (p.Trp281Arg) rs1567380135
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.844C>T (p.Pro282Ser)
NM_145239.3(PRRT2):c.845C>T (p.Pro282Leu) rs1596893062
NM_145239.3(PRRT2):c.846T>A (p.Pro282=)
NM_145239.3(PRRT2):c.848_863del (p.Val283fs) rs1596893071
NM_145239.3(PRRT2):c.854T>C (p.Ile285Thr)
NM_145239.3(PRRT2):c.859G>C (p.Ala287Pro) rs1900116554
NM_145239.3(PRRT2):c.860C>T (p.Ala287Val)
NM_145239.3(PRRT2):c.866C>A (p.Ala289Asp)
NM_145239.3(PRRT2):c.867T>A (p.Ala289=) rs2142427295
NM_145239.3(PRRT2):c.870T>G (p.Tyr290Ter) rs1244255905
NM_145239.3(PRRT2):c.871G>A (p.Ala291Thr) rs1596893141
NM_145239.3(PRRT2):c.879+1_879+2insGGTCCCA rs2142427391
NM_145239.3(PRRT2):c.879+4A>C rs1900118404
NM_145239.3(PRRT2):c.87A>G (p.Glu29=) rs1057521028
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.880-5C>T rs1434488493
NM_145239.3(PRRT2):c.880-6C>T rs1307417003
NM_145239.3(PRRT2):c.884G>A (p.Arg295Gln) rs1468206811
NM_145239.3(PRRT2):c.885del (p.Asn296fs)
NM_145239.3(PRRT2):c.886A>T (p.Asn296Tyr)
NM_145239.3(PRRT2):c.891C>G (p.Ser297Arg) rs1900136032
NM_145239.3(PRRT2):c.895C>T (p.Gln299Ter)
NM_145239.3(PRRT2):c.896A>C (p.Gln299Pro) rs2142428856
NM_145239.3(PRRT2):c.896A>G (p.Gln299Arg)
NM_145239.3(PRRT2):c.8C>G (p.Ala3Gly) rs1555502548
NM_145239.3(PRRT2):c.905A>T (p.Asp302Val)
NM_145239.3(PRRT2):c.906C>T (p.Asp302=)
NM_145239.3(PRRT2):c.907G>C (p.Val303Leu)
NM_145239.3(PRRT2):c.910G>A (p.Asp304Asn) rs1900136723
NM_145239.3(PRRT2):c.913G>C (p.Gly305Arg)
NM_145239.3(PRRT2):c.914G>C (p.Gly305Ala) rs1220798796
NM_145239.3(PRRT2):c.916G>C (p.Ala306Pro) rs727504111
NM_145239.3(PRRT2):c.916G>T (p.Ala306Ser) 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.917C>T (p.Ala306Val) rs1596894089
NM_145239.3(PRRT2):c.921del (p.Gln307fs) rs1900137777
NM_145239.3(PRRT2):c.922C>G (p.Arg308Gly) rs932713001
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys) rs932713001
NM_145239.3(PRRT2):c.922_923del (p.Arg308fs)
NM_145239.3(PRRT2):c.923G>C (p.Arg308Pro) rs989894169
NM_145239.3(PRRT2):c.924T>A (p.Arg308=)
NM_145239.3(PRRT2):c.926T>C (p.Leu309Pro) rs1900138631
NM_145239.3(PRRT2):c.932G>A (p.Arg311Gln) rs866838115
NM_145239.3(PRRT2):c.932G>C (p.Arg311Pro) rs866838115
NM_145239.3(PRRT2):c.933G>C (p.Arg311=)
NM_145239.3(PRRT2):c.936_965del (p.Ala313_Val322del)
NM_145239.3(PRRT2):c.93A>G (p.Glu31=) rs1315799003
NM_145239.3(PRRT2):c.943C>T (p.Leu315Phe) rs1900140264
NM_145239.3(PRRT2):c.945C>G (p.Leu315=) rs2142429172
NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn) rs387907125
NM_145239.3(PRRT2):c.951C>G (p.Ser317Arg)
NM_145239.3(PRRT2):c.955G>A (p.Val319Met) rs945627261
NM_145239.3(PRRT2):c.957G>A (p.Val319=) rs2142429259
NM_145239.3(PRRT2):c.961C>G (p.Leu321Val)
NM_145239.3(PRRT2):c.963G>A (p.Leu321=)
NM_145239.3(PRRT2):c.966G>A (p.Val322=) rs749980796
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.971G>T (p.Gly324Val) 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.973G>A (p.Val325Ile) rs2142429422
NM_145239.3(PRRT2):c.976C>A (p.Leu326Ile) rs1900142681
NM_145239.3(PRRT2):c.976_978del (p.Leu326del)
NM_145239.3(PRRT2):c.976del (p.Leu326fs)
NM_145239.3(PRRT2):c.982A>G (p.Ile328Val) rs2142429484
NM_145239.3(PRRT2):c.985A>G (p.Ile329Val) rs2142429495
NM_145239.3(PRRT2):c.986T>A (p.Ile329Asn) rs1900143158
NM_145239.3(PRRT2):c.987C>T (p.Ile329=) rs368411419
NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr) rs757132796
NM_145239.3(PRRT2):c.98G>A (p.Gly33Asp) rs1900061718
NM_145239.3(PRRT2):c.991del (p.Ser331fs)
NM_145239.3(PRRT2):c.997G>T (p.Val333Phe) rs749851660
NM_145239.3(PRRT2):c.998TCA[1] (p.Ile334del)
NM_152296.5(ATP1A3):c.*206T>C rs1197209551
NM_152296.5(ATP1A3):c.*247C>T rs565195548
NM_152296.5(ATP1A3):c.*280T>A rs886054472
NM_152296.5(ATP1A3):c.*99C>G rs1555858636
NM_152296.5(ATP1A3):c.-130GACG[3] rs879996553
NM_152296.5(ATP1A3):c.1006C>T (p.Leu336=) rs1555863734
NM_152296.5(ATP1A3):c.1011C>A (p.Thr337=)
NM_152296.5(ATP1A3):c.1011C>G (p.Thr337=) rs782312004
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=) rs782312004
NM_152296.5(ATP1A3):c.1012G>A (p.Ala338Thr) rs2145972624
NM_152296.5(ATP1A3):c.1013C>A (p.Ala338Asp) rs2075238567
NM_152296.5(ATP1A3):c.1018C>T (p.Arg340Cys)
NM_152296.5(ATP1A3):c.1036T>C (p.Cys346Arg) rs1599719534
NM_152296.5(ATP1A3):c.1050C>A (p.Asn350Lys)
NM_152296.5(ATP1A3):c.1071G>A (p.Leu357=) rs2075237640
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.1073G>C (p.Gly358Ala) rs1555863693
NM_152296.5(ATP1A3):c.1073G>T (p.Gly358Val) rs1555863693
NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)
NM_152296.5(ATP1A3):c.1088T>A (p.Ile363Asn) rs2145972483
NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr) rs2145972483
NM_152296.5(ATP1A3):c.108G>A (p.Met36Ile) rs1599725994
NM_152296.5(ATP1A3):c.1096G>A (p.Asp366Asn) rs2145972473
NM_152296.5(ATP1A3):c.1103C>T (p.Thr368Ile) rs1599719492
NM_152296.5(ATP1A3):c.1107G>A (p.Gly369=)
NM_152296.5(ATP1A3):c.1108A>G (p.Thr370Ala) rs2145972442
NM_152296.5(ATP1A3):c.1109C>T (p.Thr370Ile)
NM_152296.5(ATP1A3):c.1111C>G (p.Leu371Val)
NM_152296.5(ATP1A3):c.111A>C (p.Ser37=) rs1555866210
NM_152296.5(ATP1A3):c.1122C>T (p.Asn374=)
NM_152296.5(ATP1A3):c.1124G>A (p.Arg375His) rs200891944
NM_152296.5(ATP1A3):c.1133T>C (p.Val378Ala) rs2145972381
NM_152296.5(ATP1A3):c.1137C>T (p.Ala379=)
NM_152296.5(ATP1A3):c.113T>C (p.Val38Ala) rs886044790
NM_152296.5(ATP1A3):c.1161C>T (p.Ile387=) rs2075236406
NM_152296.5(ATP1A3):c.1164C>A (p.His388Gln) rs201446077
NM_152296.5(ATP1A3):c.1185C>T (p.Asp395=)
NM_152296.5(ATP1A3):c.1186C>G (p.Gln396Glu)
NM_152296.5(ATP1A3):c.1192+10G>A rs2145972233
NM_152296.5(ATP1A3):c.1192+12_1192+23del rs2145972211
NM_152296.5(ATP1A3):c.1192+16G>A
NM_152296.5(ATP1A3):c.1192+16G>C
NM_152296.5(ATP1A3):c.1192+18G>C
NM_152296.5(ATP1A3):c.1192+3G>C
NM_152296.5(ATP1A3):c.1192+7G>A rs374826826
NM_152296.5(ATP1A3):c.1192+7G>C rs374826826
NM_152296.5(ATP1A3):c.1193-13A>T
NM_152296.5(ATP1A3):c.1197C>A (p.Thr399=) rs781903799
NM_152296.5(ATP1A3):c.1207A>G (p.Lys403Glu)
NM_152296.5(ATP1A3):c.1222T>C (p.Trp408Arg)
NM_152296.5(ATP1A3):c.1230C>T (p.Ala410=)
NM_152296.5(ATP1A3):c.1232T>C (p.Leu411Pro) rs1568862410
NM_152296.5(ATP1A3):c.1238A>G (p.His413Arg)
NM_152296.5(ATP1A3):c.1242C>A (p.Ile414=)
NM_152296.5(ATP1A3):c.1243G>C (p.Ala415Pro)
NM_152296.5(ATP1A3):c.124T>C (p.Cys42Arg) rs2075305399
NM_152296.5(ATP1A3):c.1260C>G (p.Arg420=) rs113909283
NM_152296.5(ATP1A3):c.1269C>T (p.Phe423=)
NM_152296.5(ATP1A3):c.126C>T (p.Cys42=)
NM_152296.5(ATP1A3):c.1279C>G (p.Gln427Glu) rs2075234284
NM_152296.5(ATP1A3):c.127C>T (p.Arg43Trp)
NM_152296.5(ATP1A3):c.1288A>G (p.Ile430Val) rs1555863472
NM_152296.5(ATP1A3):c.1290C>G (p.Ile430Met)
NM_152296.5(ATP1A3):c.1290C>T (p.Ile430=)
NM_152296.5(ATP1A3):c.1299del (p.Lys434fs)
NM_152296.5(ATP1A3):c.1302+1G>A rs1599719130
NM_152296.5(ATP1A3):c.1303-12T>G
NM_152296.5(ATP1A3):c.1303-14C>G rs1555863411
NM_152296.5(ATP1A3):c.1303-19C>A
NM_152296.5(ATP1A3):c.1303-20A>T
NM_152296.5(ATP1A3):c.1303-5T>G rs782123500
NM_152296.5(ATP1A3):c.1304G>A (p.Arg435Lys)
NM_152296.5(ATP1A3):c.1314T>C (p.Ala438=)
NM_152296.5(ATP1A3):c.1322C>T (p.Ala441Val) rs2075232659
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152296.5(ATP1A3):c.1323G>T (p.Ala441=) rs34578730
NM_152296.5(ATP1A3):c.1326T>C (p.Ser442=)
NM_152296.5(ATP1A3):c.1336C>G (p.Leu446Val) rs2075232387
NM_152296.5(ATP1A3):c.1338G>A (p.Leu446=) rs1555863367
NM_152296.5(ATP1A3):c.1351G>A (p.Glu451Lys)
NM_152296.5(ATP1A3):c.1354C>T (p.Leu452=) rs1555863355
NM_152296.5(ATP1A3):c.1356G>T (p.Leu452=)
NM_152296.5(ATP1A3):c.1357T>G (p.Ser453Ala) rs1480822980
NM_152296.5(ATP1A3):c.1369G>C (p.Val457Leu) rs2145971610
NM_152296.5(ATP1A3):c.1377G>A (p.Leu459=)
NM_152296.5(ATP1A3):c.1384G>A (p.Glu462Lys) rs2075231792
NM_152296.5(ATP1A3):c.1392C>T (p.Asn464=)
NM_152296.5(ATP1A3):c.13A>G (p.Lys5Glu) rs2145984238
NM_152296.5(ATP1A3):c.1401G>A (p.Val467=)
NM_152296.5(ATP1A3):c.1416C>T (p.Phe472=)
NM_152296.5(ATP1A3):c.141A>G (p.Thr47=)
NM_152296.5(ATP1A3):c.1429A>T (p.Lys477Ter) rs2145971509
NM_152296.5(ATP1A3):c.1437+4C>T rs2145971500
NM_152296.5(ATP1A3):c.1437+5T>A
NM_152296.5(ATP1A3):c.1438-2A>G rs2075199553
NM_152296.5(ATP1A3):c.1454C>T (p.Thr485Ile) rs1555862366
NM_152296.5(ATP1A3):c.1456G>A (p.Glu486Lys) rs1599716048
NM_152296.5(ATP1A3):c.1462C>T (p.Pro488Ser)
NM_152296.5(ATP1A3):c.1466A>G (p.Asn489Ser) rs2075199183
NM_152296.5(ATP1A3):c.1468G>A (p.Asp490Asn)
NM_152296.5(ATP1A3):c.1483C>T (p.Leu495=) rs1555862344
NM_152296.5(ATP1A3):c.1485G>A (p.Leu495=) rs1555862341
NM_152296.5(ATP1A3):c.1491G>C (p.Met497Ile) rs2075198787
NM_152296.5(ATP1A3):c.1494G>A (p.Lys498=) rs1555862337
NM_152296.5(ATP1A3):c.1495G>A (p.Gly499Ser) rs2145966073
NM_152296.5(ATP1A3):c.1499C>G (p.Ala500Gly)
NM_152296.5(ATP1A3):c.1500C>A (p.Ala500=) rs146606627
NM_152296.5(ATP1A3):c.1512C>A (p.Ile504=) rs2145966048
NM_152296.5(ATP1A3):c.1525T>G (p.Ser509Ala)
NM_152296.5(ATP1A3):c.153+20T>C
NM_152296.5(ATP1A3):c.1538T>A (p.Leu513Gln)
NM_152296.5(ATP1A3):c.154-13C>A
NM_152296.5(ATP1A3):c.154-13C>G
NM_152296.5(ATP1A3):c.154-14C>T
NM_152296.5(ATP1A3):c.154-20G>A rs782526131
NM_152296.5(ATP1A3):c.1541A>C (p.Gln514Pro) rs2145965993
NM_152296.5(ATP1A3):c.1542G>C (p.Gln514His)
NM_152296.5(ATP1A3):c.1548G>A (p.Lys516=)
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln) rs782583311
NM_152296.5(ATP1A3):c.1552C>G (p.Gln518Glu)
NM_152296.5(ATP1A3):c.1555C>A (p.Pro519Thr)
NM_152296.5(ATP1A3):c.1563C>T (p.Asp521=) rs368551273
NM_152296.5(ATP1A3):c.1564G>A (p.Glu522Lys) rs782769181
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=) rs886054476
NM_152296.5(ATP1A3):c.1609G>A (p.Gly537Ser) rs2145965881
NM_152296.5(ATP1A3):c.1621C>T (p.Arg541Cys) rs1555862292
NM_152296.5(ATP1A3):c.1624G>T (p.Val542Leu)
NM_152296.5(ATP1A3):c.1629T>C (p.Leu543=)
NM_152296.5(ATP1A3):c.1630+13C>G
NM_152296.5(ATP1A3):c.1630+13C>T
NM_152296.5(ATP1A3):c.1630+17C>A rs782259548
NM_152296.5(ATP1A3):c.1630+17C>T
NM_152296.5(ATP1A3):c.1630+18G>A
NM_152296.5(ATP1A3):c.1630+2T>C rs2145965854
NM_152296.5(ATP1A3):c.1630+4C>T
NM_152296.5(ATP1A3):c.1631-16C>G
NM_152296.5(ATP1A3):c.1631-8G>A
NM_152296.5(ATP1A3):c.1651C>T (p.Pro551Ser) rs2075193911
NM_152296.5(ATP1A3):c.1653C>T (p.Pro551=) rs782493144
NM_152296.5(ATP1A3):c.1657G>A (p.Glu553Lys) rs2075193714
NM_152296.5(ATP1A3):c.1672G>A (p.Gly558Ser)
NM_152296.5(ATP1A3):c.1673G>A (p.Gly558Asp) rs2075193579
NM_152296.5(ATP1A3):c.1716C>G (p.Asn572Lys) rs782017635
NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=) rs886054474
NM_152296.5(ATP1A3):c.1740C>G (p.Ser580=)
NM_152296.5(ATP1A3):c.1740C>T (p.Ser580=)
NM_152296.5(ATP1A3):c.1747G>A (p.Asp583Asn) rs2145964907
NM_152296.5(ATP1A3):c.1755C>G (p.Pro585=)
NM_152296.5(ATP1A3):c.1755C>T (p.Pro585=)
NM_152296.5(ATP1A3):c.1764C>T (p.Ala588=)
NM_152296.5(ATP1A3):c.1775C>A (p.Ala592Glu) rs1599715351
NM_152296.5(ATP1A3):c.1775C>T (p.Ala592Val) rs1599715351
NM_152296.5(ATP1A3):c.1784_1792del (p.Lys595_Arg597del)
NM_152296.5(ATP1A3):c.1789C>T (p.Arg597Cys) rs2075192084
NM_152296.5(ATP1A3):c.1790G>A (p.Arg597His) rs1599715341
NM_152296.5(ATP1A3):c.1795G>A (p.Ala599Thr) rs1057519113
NM_152296.5(ATP1A3):c.1795G>C (p.Ala599Pro)
NM_152296.5(ATP1A3):c.1801A>T (p.Ile601Phe) rs1599715325
NM_152296.5(ATP1A3):c.1803C>T (p.Ile601=)
NM_152296.5(ATP1A3):c.1806+12G>C rs1555862070
NM_152296.5(ATP1A3):c.1807-14A>T
NM_152296.5(ATP1A3):c.1807-2A>G
NM_152296.5(ATP1A3):c.1807-5T>C rs2145964609
NM_152296.5(ATP1A3):c.1807-7C>A
NM_152296.5(ATP1A3):c.1812C>A (p.Ile604=)
NM_152296.5(ATP1A3):c.1820C>T (p.Thr607Ile) rs2145964580
NM_152296.5(ATP1A3):c.1825G>A (p.Asp609Asn) rs2075190697
NM_152296.5(ATP1A3):c.1830C>T (p.His610=)
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=) rs376852509
NM_152296.5(ATP1A3):c.1843A>G (p.Lys615Glu)
NM_152296.5(ATP1A3):c.1853C>A (p.Ala618Asp)
NM_152296.5(ATP1A3):c.1853C>T (p.Ala618Val)
NM_152296.5(ATP1A3):c.1854C>T (p.Ala618=)
NM_152296.5(ATP1A3):c.1872C>T (p.Ile624=) rs1599715179
NM_152296.5(ATP1A3):c.1881C>T (p.Gly627=)
NM_152296.5(ATP1A3):c.1884C>A (p.Asn628Lys) rs144130986
NM_152296.5(ATP1A3):c.18T>C (p.Asp6=)
NM_152296.5(ATP1A3):c.1902C>T (p.Ile634=)
NM_152296.5(ATP1A3):c.1906G>T (p.Ala636Ser)
NM_152296.5(ATP1A3):c.1917C>T (p.Asn639=) rs2145964395
NM_152296.5(ATP1A3):c.1923C>G (p.Pro641=) rs370996990
NM_152296.5(ATP1A3):c.1928G>A (p.Ser643Asn) rs2145964356
NM_152296.5(ATP1A3):c.1928G>C (p.Ser643Thr)
NM_152296.5(ATP1A3):c.1930C>T (p.Gln644Ter) rs1555861946
NM_152296.5(ATP1A3):c.1931A>T (p.Gln644Leu) rs1060500992
NM_152296.5(ATP1A3):c.1932G>A (p.Gln644=) rs1599715062
NM_152296.5(ATP1A3):c.1932G>C (p.Gln644His)
NM_152296.5(ATP1A3):c.1943+7C>T rs2145964292
NM_152296.5(ATP1A3):c.1944-16T>A
NM_152296.5(ATP1A3):c.1944-19C>T
NM_152296.5(ATP1A3):c.1947T>C (p.Asp649=)
NM_152296.5(ATP1A3):c.1954G>C (p.Ala652Pro) rs2075173086
NM_152296.5(ATP1A3):c.1959C>A (p.Cys653Ter) rs782105093
NM_152296.5(ATP1A3):c.196G>A (p.Gly66Arg) rs2145983320
NM_152296.5(ATP1A3):c.1971C>A (p.Gly657=)
NM_152296.5(ATP1A3):c.1975G>T (p.Asp659Tyr) rs375193034
NM_152296.5(ATP1A3):c.1980C>G (p.Leu660=) rs1281745816
NM_152296.5(ATP1A3):c.1992C>T (p.Thr664=)
NM_152296.5(ATP1A3):c.2010G>A (p.Glu670=)
NM_152296.5(ATP1A3):c.2016G>A (p.Leu672=) rs2145961560
NM_152296.5(ATP1A3):c.2019G>A (p.Gln673=)
NM_152296.5(ATP1A3):c.2027C>T (p.Thr676Ile)
NM_152296.5(ATP1A3):c.2034C>T (p.Ile678=) rs2145961533
NM_152296.5(ATP1A3):c.2035G>A (p.Val679Ile) rs781854249
NM_152296.5(ATP1A3):c.2035G>T (p.Val679Phe) rs781854249
NM_152296.5(ATP1A3):c.2036T>C (p.Val679Ala)
NM_152296.5(ATP1A3):c.2049A>T (p.Thr683=)
NM_152296.5(ATP1A3):c.2051C>A (p.Ser684Tyr)
NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe) rs397515577
NM_152296.5(ATP1A3):c.2088G>A (p.Gln696=)
NM_152296.5(ATP1A3):c.2094+10G>A
NM_152296.5(ATP1A3):c.2094+10G>T
NM_152296.5(ATP1A3):c.2094+11C>A
NM_152296.5(ATP1A3):c.2094+15C>G
NM_152296.5(ATP1A3):c.2094+16G>A
NM_152296.5(ATP1A3):c.2094+2_2094+3del
NM_152296.5(ATP1A3):c.2094G>A (p.Gln698=) rs782060744
NM_152296.5(ATP1A3):c.2095-10C>T rs201423892
NM_152296.5(ATP1A3):c.2095-12C>G rs781875807
NM_152296.5(ATP1A3):c.2095-17A>C
NM_152296.5(ATP1A3):c.2095-1G>A rs2145959709
NM_152296.5(ATP1A3):c.2095-3C>T rs782736392
NM_152296.5(ATP1A3):c.2095-4C>T
NM_152296.5(ATP1A3):c.2095-5_2095-4insCCCTTACCCTGCA rs782804502
NM_152296.5(ATP1A3):c.2095-7C>T rs1599712675
NM_152296.5(ATP1A3):c.2096G>A (p.Gly699Asp) rs2075159832
NM_152296.5(ATP1A3):c.2100A>G (p.Ala700=)
NM_152296.5(ATP1A3):c.2109T>G (p.Ala703=)
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg)
NM_152296.5(ATP1A3):c.2122G>A (p.Gly708Ser) rs782288524
NM_152296.5(ATP1A3):c.2124T>G (p.Gly708=)
NM_152296.5(ATP1A3):c.2128A>C (p.Asn710His)
NM_152296.5(ATP1A3):c.2131G>A (p.Asp711Asn)
NM_152296.5(ATP1A3):c.2136C>T (p.Ser712=) rs2075159123
NM_152296.5(ATP1A3):c.2139C>T (p.Pro713=) rs141362710
NM_152296.5(ATP1A3):c.213G>A (p.Thr71=) rs1555866049
NM_152296.5(ATP1A3):c.213G>T (p.Thr71=) rs1555866049
NM_152296.5(ATP1A3):c.2140G>A (p.Ala714Thr) rs2145959562
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.2191G>A (p.Val731Ile) rs1131691813
NM_152296.5(ATP1A3):c.2195C>A (p.Ser732Tyr) rs1599712523
NM_152296.5(ATP1A3):c.2203G>A (p.Ala735Thr) rs2075158274
NM_152296.5(ATP1A3):c.2205A>G (p.Ala735=)
NM_152296.5(ATP1A3):c.2208T>C (p.Ala736=) rs1599712506
NM_152296.5(ATP1A3):c.2224GAC[1] (p.Asp743del)
NM_152296.5(ATP1A3):c.2225A>T (p.Asp742Val) rs2145959393
NM_152296.5(ATP1A3):c.2227G>A (p.Asp743Asn) rs1555860790
NM_152296.5(ATP1A3):c.2227G>T (p.Asp743Tyr)
NM_152296.5(ATP1A3):c.2232C>A (p.Asn744Lys)
NM_152296.5(ATP1A3):c.2240C>A (p.Ser747Tyr)
NM_152296.5(ATP1A3):c.2244C>A (p.Ile748=)
NM_152296.5(ATP1A3):c.2245G>A (p.Val749Ile) rs2075157919
NM_152296.5(ATP1A3):c.2251G>A (p.Gly751Arg) rs1599712463
NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu) rs1599712456
NM_152296.5(ATP1A3):c.2256G>A (p.Val752=) rs2075157702
NM_152296.5(ATP1A3):c.2258A>G (p.Glu753Gly)
NM_152296.5(ATP1A3):c.225C>G (p.Thr75=)
NM_152296.5(ATP1A3):c.2263+10C>A rs1339140939
NM_152296.5(ATP1A3):c.2263+20C>A
NM_152296.5(ATP1A3):c.2263+8G>A rs1568858162
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.2264-20T>A
NM_152296.5(ATP1A3):c.2264-8T>C
NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala) rs606231434
NM_152296.5(ATP1A3):c.2265C>T (p.Gly755=)
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.2267G>T (p.Arg756Leu) rs606231435
NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser) rs80356535
NM_152296.5(ATP1A3):c.227C>T (p.Thr76Ile) rs2145983246
NM_152296.5(ATP1A3):c.2280C>T (p.Asp760=)
NM_152296.5(ATP1A3):c.2303A>G (p.Tyr768Cys) rs1599706613
NM_152296.5(ATP1A3):c.2309T>G (p.Leu770Arg)
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.2325G>C (p.Pro775=) rs150943961
NM_152296.5(ATP1A3):c.2331C>T (p.Ile777=) rs782443507
NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro) rs1599706511
NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu) rs80356536
NM_152296.5(ATP1A3):c.2340C>T (p.Phe780=) rs1351846628
NM_152296.5(ATP1A3):c.2353A>G (p.Met785Val)
NM_152296.5(ATP1A3):c.2354T>A (p.Met785Lys) rs2075091235
NM_152296.5(ATP1A3):c.2364C>A (p.Ile788=)
NM_152296.5(ATP1A3):c.2364C>T (p.Ile788=) rs1555859582
NM_152296.5(ATP1A3):c.2366C>T (p.Pro789Leu)
NM_152296.5(ATP1A3):c.2371C>T (p.Pro791Ser) rs1599706459
NM_152296.5(ATP1A3):c.2382C>T (p.Thr794=)
NM_152296.5(ATP1A3):c.2393T>C (p.Leu798Pro) rs1568854359
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr) rs80356537
NM_152296.5(ATP1A3):c.2403T>A (p.Asp801Glu) rs1568854338
NM_152296.5(ATP1A3):c.2406G>A (p.Leu802=)
NM_152296.5(ATP1A3):c.2407G>C (p.Gly803Arg) rs2075090666
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.2417T>G (p.Met806Arg) rs549006436
NM_152296.5(ATP1A3):c.2418+13A>T
NM_152296.5(ATP1A3):c.2418+16C>T rs2145947877
NM_152296.5(ATP1A3):c.2418+19C>A
NM_152296.5(ATP1A3):c.2418+8C>T
NM_152296.5(ATP1A3):c.2418+9T>G rs950336124
NM_152296.5(ATP1A3):c.2419-14C>A rs2075089174
NM_152296.5(ATP1A3):c.2419-14C>T rs2075089174
NM_152296.5(ATP1A3):c.2419-15G>T
NM_152296.5(ATP1A3):c.2419G>A (p.Val807Ile)
NM_152296.5(ATP1A3):c.2428A>G (p.Ile810Val)
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro) rs387907282
NM_152296.5(ATP1A3):c.2434C>G (p.Leu812Val)
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2447C>G (p.Ala816Gly)
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2456G>A (p.Ser819Asn) rs2075088473
NM_152296.5(ATP1A3):c.2461A>C (p.Ile821Leu) rs2145947547
NM_152296.5(ATP1A3):c.2469G>A (p.Lys823=) rs782260220
NM_152296.5(ATP1A3):c.2481G>A (p.Arg827=)
NM_152296.5(ATP1A3):c.2488C>A (p.Arg830=)
NM_152296.5(ATP1A3):c.2491A>T (p.Thr831Ser)
NM_152296.5(ATP1A3):c.2493G>C (p.Thr831=) rs374157034
NM_152296.5(ATP1A3):c.2496C>T (p.Asp832=)
NM_152296.5(ATP1A3):c.24G>T (p.Lys8Asn)
NM_152296.5(ATP1A3):c.2509G>A (p.Glu837Lys) rs2075087967
NM_152296.5(ATP1A3):c.250C>G (p.Arg84Gly) rs1555866028
NM_152296.5(ATP1A3):c.2514A>G (p.Arg838=)
NM_152296.5(ATP1A3):c.2525T>C (p.Met842Thr)
NM_152296.5(ATP1A3):c.2531A>G (p.Tyr844Cys)
NM_152296.5(ATP1A3):c.2533G>A (p.Gly845Arg)
NM_152296.5(ATP1A3):c.2542+10C>G rs782693337
NM_152296.5(ATP1A3):c.2542+10C>T
NM_152296.5(ATP1A3):c.2542+13G>C
NM_152296.5(ATP1A3):c.2542+17T>C
NM_152296.5(ATP1A3):c.2542+1G>A rs606231441
NM_152296.5(ATP1A3):c.2542+1G>C rs606231441
NM_152296.5(ATP1A3):c.2543-10C>T
NM_152296.5(ATP1A3):c.2543-13C>T
NM_152296.5(ATP1A3):c.2543-18C>T
NM_152296.5(ATP1A3):c.2543-6T>A rs1599705282
NM_152296.5(ATP1A3):c.2543-9T>C rs2145946094
NM_152296.5(ATP1A3):c.2560G>A (p.Gly854Ser) rs2075079968
NM_152296.5(ATP1A3):c.2562T>G (p.Gly854=) rs2145946002
NM_152296.5(ATP1A3):c.2563_2565del (p.Gly855del) rs2075079909
NM_152296.5(ATP1A3):c.2580T>C (p.Phe860=)
NM_152296.5(ATP1A3):c.2582T>C (p.Val861Ala)
NM_152296.5(ATP1A3):c.258C>T (p.Leu86=)
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp) rs606231442
NM_152296.5(ATP1A3):c.2610C>G (p.Pro870=) rs35272495
NM_152296.5(ATP1A3):c.2611G>A (p.Gly871Ser)
NM_152296.5(ATP1A3):c.2616C>G (p.Asn872Lys) rs782057287
NM_152296.5(ATP1A3):c.261C>T (p.Phe87=)
NM_152296.5(ATP1A3):c.2629C>T (p.Arg877Trp)
NM_152296.5(ATP1A3):c.262G>A (p.Gly88Arg)
NM_152296.5(ATP1A3):c.2631dup (p.Leu878fs) rs2145945887
NM_152296.5(ATP1A3):c.2647C>A (p.Arg883Ser)
NM_152296.5(ATP1A3):c.2647C>T (p.Arg883Cys) rs1555859299
NM_152296.5(ATP1A3):c.2649C>T (p.Arg883=)
NM_152296.5(ATP1A3):c.264G>A (p.Gly88=) rs782670995
NM_152296.5(ATP1A3):c.2652dup (p.Val885fs) rs2145945849
NM_152296.5(ATP1A3):c.2664G>A (p.Leu888=)
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.2677G>C (p.Gly893Arg) rs1568853466
NM_152296.5(ATP1A3):c.2688+16T>G
NM_152296.5(ATP1A3):c.2688+17del
NM_152296.5(ATP1A3):c.2688+6T>C rs2075078801
NM_152296.5(ATP1A3):c.2688+9G>A
NM_152296.5(ATP1A3):c.2689-10G>A
NM_152296.5(ATP1A3):c.2689-11C>G rs782509039
NM_152296.5(ATP1A3):c.2689-11del
NM_152296.5(ATP1A3):c.2689-1G>T rs2145944794
NM_152296.5(ATP1A3):c.2689-20C>T
NM_152296.5(ATP1A3):c.2689-4G>A rs2145944806
NM_152296.5(ATP1A3):c.2691A>G (p.Thr897=)
NM_152296.5(ATP1A3):c.2691A>T (p.Thr897=)
NM_152296.5(ATP1A3):c.2707G>T (p.Val903Leu)
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=) rs782539594
NM_152296.5(ATP1A3):c.2718C>T (p.Phe906=)
NM_152296.5(ATP1A3):c.2723G>C (p.Cys908Ser) rs2075072029
NM_152296.5(ATP1A3):c.2733CTT[1] (p.Phe913del)
NM_152296.5(ATP1A3):c.2746A>T (p.Ile916Phe)
NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del) rs606231443
NM_152296.5(ATP1A3):c.2754C>T (p.Val918=)
NM_152296.5(ATP1A3):c.2755G>A (p.Val919Ile)
NM_152296.5(ATP1A3):c.2757C>T (p.Val919=) rs2145944643
NM_152296.5(ATP1A3):c.2759A>C (p.Gln920Pro)
NM_152296.5(ATP1A3):c.2763G>A (p.Trp921Ter) rs1060500993
NM_152296.5(ATP1A3):c.2766C>T (p.Ala922=)
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.2773A>G (p.Ile925Val) rs2145944590
NM_152296.5(ATP1A3):c.2777T>G (p.Ile926Ser) rs2075071439
NM_152296.5(ATP1A3):c.2786C>T (p.Thr929Ile) rs2075071279
NM_152296.5(ATP1A3):c.2788C>T (p.Arg930Trp) rs1555859150
NM_152296.5(ATP1A3):c.2789G>A (p.Arg930Gln) rs2145944562
NM_152296.5(ATP1A3):c.2790G>T (p.Arg930=)
NM_152296.5(ATP1A3):c.2796C>T (p.Asn932=)
NM_152296.5(ATP1A3):c.2798C>T (p.Ser933Leu) rs2145944540
NM_152296.5(ATP1A3):c.2799G>A (p.Ser933=)
NM_152296.5(ATP1A3):c.2799G>C (p.Ser933=) rs150417636
NM_152296.5(ATP1A3):c.2801T>C (p.Val934Ala) rs2075071034
NM_152296.5(ATP1A3):c.2819+14G>A
NM_152296.5(ATP1A3):c.2819+17_2819+18del
NM_152296.5(ATP1A3):c.2819+7G>T rs1599704395
NM_152296.5(ATP1A3):c.281T>C (p.Leu94Pro)
NM_152296.5(ATP1A3):c.2820-12C>T rs2145942473
NM_152296.5(ATP1A3):c.2829C>A (p.Ile943=)
NM_152296.5(ATP1A3):c.2829C>G (p.Ile943Met) rs1330371427
NM_152296.5(ATP1A3):c.2835C>A (p.Ile945=) rs2075059472
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.2841G>T (p.Gly947=)
NM_152296.5(ATP1A3):c.2845T>C (p.Phe949Leu) rs2145942388
NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys) rs2145942372
NM_152296.5(ATP1A3):c.2855C>T (p.Thr952Met)
NM_152296.5(ATP1A3):c.2856G>C (p.Thr952=)
NM_152296.5(ATP1A3):c.2859C>A (p.Ala953=)
NM_152296.5(ATP1A3):c.2860C>T (p.Leu954=)
NM_152296.5(ATP1A3):c.2872C>T (p.Leu958=)
NM_152296.5(ATP1A3):c.2877C>T (p.Ser959=)
NM_152296.5(ATP1A3):c.2880C>T (p.Tyr960=) rs534301907
NM_152296.5(ATP1A3):c.2896G>T (p.Val966Leu)
NM_152296.5(ATP1A3):c.2898G>A (p.Val966=) rs1555858932
NM_152296.5(ATP1A3):c.2902del (p.Leu968fs)
NM_152296.5(ATP1A3):c.2906G>A (p.Arg969His) rs1555858925
NM_152296.5(ATP1A3):c.2908A>C (p.Met970Leu)
NM_152296.5(ATP1A3):c.291G>A (p.Gly97=)
NM_152296.5(ATP1A3):c.2921+12G>A
NM_152296.5(ATP1A3):c.2921+13C>T
NM_152296.5(ATP1A3):c.2921+17C>G
NM_152296.5(ATP1A3):c.2921+18C>T
NM_152296.5(ATP1A3):c.2921+1G>C rs2075058462
NM_152296.5(ATP1A3):c.2922-17T>G
NM_152296.5(ATP1A3):c.2922-3C>G
NM_152296.5(ATP1A3):c.2922-6C>G rs1185127716
NM_152296.5(ATP1A3):c.2922-6C>T rs1185127716
NM_152296.5(ATP1A3):c.2922-8C>A rs1555858851
NM_152296.5(ATP1A3):c.2939G>T (p.Cys980Phe)
NM_152296.5(ATP1A3):c.2940T>A (p.Cys980Ter)
NM_152296.5(ATP1A3):c.2953_2973del (p.Ser985_Tyr991del)
NM_152296.5(ATP1A3):c.295A>G (p.Ile99Val) rs958239123
NM_152296.5(ATP1A3):c.2962A>G (p.Ile988Val)
NM_152296.5(ATP1A3):c.2966_2996del (p.Phe989fs)
NM_152296.5(ATP1A3):c.2967C>T (p.Phe989=)
NM_152296.5(ATP1A3):c.2969T>C (p.Val990Ala) rs2145941354
NM_152296.5(ATP1A3):c.2971_2976del (p.Tyr991_Asp992del) rs2145941324
NM_152296.5(ATP1A3):c.2972A>T (p.Tyr991Phe)
NM_152296.5(ATP1A3):c.2974G>A (p.Asp992Asn) rs606231447
NM_152296.5(ATP1A3):c.2974G>C (p.Asp992His) rs606231447
NM_152296.5(ATP1A3):c.2977_2982dup (p.Ile994_Arg995insGluIle)
NM_152296.5(ATP1A3):c.2977_2994del (p.Glu993_Ile998del)
NM_152296.5(ATP1A3):c.2980A>G (p.Ile994Val)
NM_152296.5(ATP1A3):c.2983C>T (p.Arg995Cys)
NM_152296.5(ATP1A3):c.2994C>T (p.Ile998=) rs1555858831
NM_152296.5(ATP1A3):c.2996T>C (p.Leu999Pro) rs2145941265
NM_152296.5(ATP1A3):c.2998C>T (p.Arg1000Cys) rs782778986
NM_152296.5(ATP1A3):c.3008C>T (p.Pro1003Leu) rs2075053042
NM_152296.5(ATP1A3):c.3011G>C (p.Gly1004Ala) rs782204932
NM_152296.5(ATP1A3):c.3013+13G>A
NM_152296.5(ATP1A3):c.3013+13G>C
NM_152296.5(ATP1A3):c.3013+17A>G
NM_152296.5(ATP1A3):c.3013+1G>A rs2145941195
NM_152296.5(ATP1A3):c.3014-18C>T
NM_152296.5(ATP1A3):c.3019G>A (p.Val1007Met)
NM_152296.5(ATP1A3):c.3022G>A (p.Glu1008Lys)
NM_152296.5(ATP1A3):c.3024G>A (p.Glu1008=)
NM_152296.5(ATP1A3):c.3027G>A (p.Lys1009=)
NM_152296.5(ATP1A3):c.3027G>T (p.Lys1009Asn)
NM_152296.5(ATP1A3):c.3035ACT[3] (p.Tyr1013dup) rs397515382
NM_152296.5(ATP1A3):c.324G>A (p.Gln108=)
NM_152296.5(ATP1A3):c.326C>T (p.Ala109Val) rs1568866568
NM_152296.5(ATP1A3):c.336G>A (p.Glu112=)
NM_152296.5(ATP1A3):c.354C>T (p.Asp118=)
NM_152296.5(ATP1A3):c.357+13A>G
NM_152296.5(ATP1A3):c.357+14C>T
NM_152296.5(ATP1A3):c.357+16C>G
NM_152296.5(ATP1A3):c.357+19C>T
NM_152296.5(ATP1A3):c.357+7G>A
NM_152296.5(ATP1A3):c.357+9C>T
NM_152296.5(ATP1A3):c.358-12A>C
NM_152296.5(ATP1A3):c.358-13C>A
NM_152296.5(ATP1A3):c.358-13C>T
NM_152296.5(ATP1A3):c.358-17C>A rs1555865438
NM_152296.5(ATP1A3):c.358-7C>G rs1555865427
NM_152296.5(ATP1A3):c.36GAA[1] (p.Lys13del)
NM_152296.5(ATP1A3):c.372C>T (p.Ile124=)
NM_152296.5(ATP1A3):c.376_387del (p.Leu126_Val129del) rs2145980132
NM_152296.5(ATP1A3):c.384C>T (p.Ala128=) rs782662538
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) rs1555865401
NM_152296.5(ATP1A3):c.388G>T (p.Val130Leu) rs1555865397
NM_152296.5(ATP1A3):c.408C>T (p.Phe136=) rs2145980107
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.410_412del (p.Ser137del) rs1555865385
NM_152296.5(ATP1A3):c.42C>G (p.Asn14Lys)
NM_152296.5(ATP1A3):c.459C>T (p.Asn153=)
NM_152296.5(ATP1A3):c.46G>A (p.Gly16Ser) rs559227917
NM_152296.5(ATP1A3):c.471+18A>C
NM_152296.5(ATP1A3):c.471+3G>A
NM_152296.5(ATP1A3):c.472-11T>C
NM_152296.5(ATP1A3):c.472-15T>G
NM_152296.5(ATP1A3):c.472-17A>C
NM_152296.5(ATP1A3):c.472-19T>A
NM_152296.5(ATP1A3):c.472-5C>T
NM_152296.5(ATP1A3):c.480G>C (p.Leu160=)
NM_152296.5(ATP1A3):c.480G>T (p.Leu160=) rs1599723659
NM_152296.5(ATP1A3):c.488G>A (p.Arg163Gln)
NM_152296.5(ATP1A3):c.4G>C (p.Gly2Arg) rs2145995411
NM_152296.5(ATP1A3):c.507G>A (p.Gln169=)
NM_152296.5(ATP1A3):c.531C>A (p.Val177=)
NM_152296.5(ATP1A3):c.54G>C (p.Glu18Asp) rs541121307
NM_152296.5(ATP1A3):c.551A>G (p.Lys184Arg)
NM_152296.5(ATP1A3):c.55C>A (p.Arg19Ser)
NM_152296.5(ATP1A3):c.562C>T (p.Arg188Ter) rs2075282510
NM_152296.5(ATP1A3):c.569C>T (p.Pro190Leu) rs1599723609
NM_152296.5(ATP1A3):c.571G>T (p.Ala191Ser) rs1568865274
NM_152296.5(ATP1A3):c.577C>T (p.Leu193=)
NM_152296.5(ATP1A3):c.58C>T (p.Arg20Trp)
NM_152296.5(ATP1A3):c.594C>T (p.Ala198=) rs1555865244
NM_152296.5(ATP1A3):c.597C>A (p.His199Gln)
NM_152296.5(ATP1A3):c.6+14C>G
NM_152296.5(ATP1A3):c.6+7G>A rs2145995390
NM_152296.5(ATP1A3):c.606+14T>C rs2075281972
NM_152296.5(ATP1A3):c.607-10C>T rs1250683183
NM_152296.5(ATP1A3):c.607-13C>A
NM_152296.5(ATP1A3):c.607-3C>T rs886054475
NM_152296.5(ATP1A3):c.607-3del rs781995257
NM_152296.5(ATP1A3):c.607-4C>G rs2145978840
NM_152296.5(ATP1A3):c.612C>T (p.Asp204=) rs2145978813
NM_152296.5(ATP1A3):c.633A>T (p.Glu211Asp)
NM_152296.5(ATP1A3):c.637G>A (p.Glu213Lys)
NM_152296.5(ATP1A3):c.64C>T (p.Leu22=)
NM_152296.5(ATP1A3):c.665_666delinsTG (p.Thr222Met) rs2145978673
NM_152296.5(ATP1A3):c.666T>A (p.Thr222=) rs2217342
NM_152296.5(ATP1A3):c.688C>T (p.Arg230Trp)
NM_152296.5(ATP1A3):c.6G>A (p.Gly2=)
NM_152296.5(ATP1A3):c.7-10_7-3del
NM_152296.5(ATP1A3):c.7-13C>T
NM_152296.5(ATP1A3):c.7-18C>G rs782562097
NM_152296.5(ATP1A3):c.7-4G>A rs375990668
NM_152296.5(ATP1A3):c.7-4G>C
NM_152296.5(ATP1A3):c.7-5C>T
NM_152296.5(ATP1A3):c.7-6T>A
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu) rs782230953
NM_152296.5(ATP1A3):c.709A>G (p.Thr237Ala)
NM_152296.5(ATP1A3):c.714C>T (p.Asn238=)
NM_152296.5(ATP1A3):c.719T>C (p.Val240Ala) rs2075276205
NM_152296.5(ATP1A3):c.724+10G>A
NM_152296.5(ATP1A3):c.724+12G>A
NM_152296.5(ATP1A3):c.724+1G>T rs2075276177
NM_152296.5(ATP1A3):c.724+7C>T rs1213902675
NM_152296.5(ATP1A3):c.725-15C>T
NM_152296.5(ATP1A3):c.725-16C>T
NM_152296.5(ATP1A3):c.725-3C>T
NM_152296.5(ATP1A3):c.725-6C>T rs782647558
NM_152296.5(ATP1A3):c.725-8G>C
NM_152296.5(ATP1A3):c.728C>T (p.Thr243Met) rs2075274884
NM_152296.5(ATP1A3):c.753G>T (p.Thr251=)
NM_152296.5(ATP1A3):c.760C>T (p.Arg254Cys)
NM_152296.5(ATP1A3):c.761G>A (p.Arg254His) rs1315342682
NM_152296.5(ATP1A3):c.762C>T (p.Arg254=)
NM_152296.5(ATP1A3):c.768C>T (p.Val256=) rs1555864895
NM_152296.5(ATP1A3):c.775C>T (p.Arg259Cys) rs2145978147
NM_152296.5(ATP1A3):c.793T>A (p.Ser265Thr)
NM_152296.5(ATP1A3):c.797G>T (p.Gly266Val)
NM_152296.5(ATP1A3):c.798G>A (p.Gly266=) rs2145978100
NM_152296.5(ATP1A3):c.809G>A (p.Gly270Asp) rs1555864875
NM_152296.5(ATP1A3):c.819C>A (p.Pro273=)
NM_152296.5(ATP1A3):c.819C>T (p.Pro273=)
NM_152296.5(ATP1A3):c.821T>C (p.Ile274Thr) rs80356532
NM_152296.5(ATP1A3):c.828C>T (p.Ile276=)
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) rs80356533
NM_152296.5(ATP1A3):c.834T>C (p.Ile278=) rs2145977982
NM_152296.5(ATP1A3):c.838C>T (p.His280Tyr) rs2075273663
NM_152296.5(ATP1A3):c.841T>G (p.Phe281Val) rs2145977959
NM_152296.5(ATP1A3):c.859G>A (p.Gly287Ser)
NM_152296.5(ATP1A3):c.859G>T (p.Gly287Cys)
NM_152296.5(ATP1A3):c.862G>A (p.Val288Met)
NM_152296.5(ATP1A3):c.882C>G (p.Val294=) rs1555864832
NM_152296.5(ATP1A3):c.886TTC[1] (p.Phe297del) rs1555864827
NM_152296.5(ATP1A3):c.893T>C (p.Ile298Thr) rs2075272973
NM_152296.5(ATP1A3):c.8A>G (p.Asp3Gly)
NM_152296.5(ATP1A3):c.902T>G (p.Leu301Arg)
NM_152296.5(ATP1A3):c.909C>G (p.Leu303=) rs782266448
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) rs782266448
NM_152296.5(ATP1A3):c.910G>A (p.Gly304Arg) rs1032312899
NM_152296.5(ATP1A3):c.918C>G (p.Thr306=) rs1555864811
NM_152296.5(ATP1A3):c.927G>A (p.Glu309=)
NM_152296.5(ATP1A3):c.92T>C (p.Met31Thr)
NM_152296.5(ATP1A3):c.93+12_93+15dup
NM_152296.5(ATP1A3):c.93+20C>T
NM_152296.5(ATP1A3):c.93+4A>G rs782545260
NM_152296.5(ATP1A3):c.94-19C>A
NM_152296.5(ATP1A3):c.94-5C>T rs1599726017
NM_152296.5(ATP1A3):c.942C>T (p.Leu314=) rs143797324
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser) rs869320661
NM_152296.5(ATP1A3):c.954C>A (p.Ile318=) rs529241207
NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met) rs529241207
NM_152296.5(ATP1A3):c.954C>T (p.Ile318=)
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro) rs879255368
NM_152296.5(ATP1A3):c.962A>G (p.Asn321Ser)
NM_152296.5(ATP1A3):c.962A>T (p.Asn321Ile) rs1176093601
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_152296.5(ATP1A3):c.968C>T (p.Pro323Leu) rs1085307933
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg) rs2145977694
NM_152296.5(ATP1A3):c.977T>C (p.Leu326Pro)
NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg) rs1131691307
NM_152296.5(ATP1A3):c.990C>T (p.Val330=) rs2145977662
NM_152296.5(ATP1A3):c.992C>T (p.Thr331Ile) rs2075272037
NM_152296.5(ATP1A3):c.993+11G>C
NM_152296.5(ATP1A3):c.993+8C>G
NM_152296.5(ATP1A3):c.994-16C>A
NM_152296.5(ATP1A3):c.994-1G>A
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

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