NM_022041.3(GAN):c.-323G>T
|
rs12599564
|
0.90188
|
NM_022041.4(GAN):c.974-303C>T
|
rs2608552
|
0.89538
|
NM_022041.4(GAN):c.1236+256T>C
|
rs9935709
|
0.66150
|
NM_022041.4(GAN):c.1237-59G>A
|
rs4889313
|
0.64331
|
NM_022041.4(GAN):c.*472C>G
|
rs1816122
|
0.61663
|
NM_022041.4(GAN):c.*592T>A
|
rs1345895
|
0.59860
|
NM_022041.4(GAN):c.*247G>A
|
rs2216769
|
0.57491
|
NM_022041.4(GAN):c.283-283A>G
|
rs729181
|
0.47758
|
NM_022041.4(GAN):c.*967G>A
|
rs12920236
|
0.41705
|
NM_022041.4(GAN):c.282+223C>T
|
rs9938148
|
0.41322
|
NM_022041.4(GAN):c.1502+222G>A
|
rs2615701
|
0.23571
|
NM_022041.4(GAN):c.1087-233T>C
|
rs2550738
|
0.21940
|
NM_022041.4(GAN):c.1293C>T (p.Tyr431=)
|
rs2608555
|
0.21491
|
NM_022041.4(GAN):c.1087-161T>C
|
rs9933250
|
0.20409
|
NM_022041.4(GAN):c.1086+71C>T
|
rs12448327
|
0.18756
|
NM_022041.4(GAN):c.1237-261G>A
|
rs9930065
|
0.15179
|
NM_022041.4(GAN):c.*2188T>C
|
rs2290949
|
0.09906
|
NM_022041.4(GAN):c.*235T>C
|
rs16955203
|
0.09324
|
NM_022041.4(GAN):c.*2321_*2322insG
|
rs202192140
|
0.08532
|
NM_022041.4(GAN):c.*1817G>C
|
rs73602873
|
0.05804
|
NM_022041.4(GAN):c.*764G>A
|
rs1934
|
0.05779
|
NM_022041.4(GAN):c.*227G>A
|
rs113970605
|
0.05772
|
NM_022041.4(GAN):c.*1658T>G
|
rs16955221
|
0.05141
|
NM_022041.4(GAN):c.*1068T>G
|
rs57170812
|
0.05139
|
NM_022041.4(GAN):c.*1250T>G
|
rs61096092
|
0.05139
|
NM_022041.4(GAN):c.1503-320A>G
|
rs73602865
|
0.05136
|
NM_022041.4(GAN):c.*1388A>G
|
rs41484544
|
0.05121
|
NM_022041.4(GAN):c.168-147A>G
|
rs16955109
|
0.04233
|
NM_022041.4(GAN):c.*2498T>G
|
rs2290948
|
0.04199
|
NM_022041.4(GAN):c.*294A>G
|
rs16955210
|
0.04160
|
NM_022041.4(GAN):c.851+125T>C
|
rs113656513
|
0.04087
|
NM_022041.4(GAN):c.168-66G>A
|
rs9935105
|
0.03562
|
NM_022041.4(GAN):c.*81T>C
|
rs78835723
|
0.03196
|
NM_022041.4(GAN):c.852-329T>C
|
rs112195828
|
0.02511
|
NM_022041.4(GAN):c.*2322T>G
|
rs11862952
|
0.02277
|
NM_022041.4(GAN):c.973+148G>A
|
rs7191388
|
0.02272
|
NM_022041.4(GAN):c.1087-225T>A
|
rs112859650
|
0.02102
|
NM_022041.4(GAN):c.634-51T>C
|
rs56859781
|
0.02004
|
NM_022041.4(GAN):c.851+258C>G
|
rs75525959
|
0.02003
|
NM_022041.4(GAN):c.973+237C>A
|
rs11861054
|
0.01960
|
NM_022041.4(GAN):c.*1908A>C
|
rs11861082
|
0.01673
|
NM_022041.4(GAN):c.*1273G>C
|
rs75176423
|
0.01472
|
NM_022041.4(GAN):c.*159C>T
|
rs76000455
|
0.01456
|
NM_022041.4(GAN):c.283-40G>T
|
rs117009369
|
0.01101
|
NM_022041.4(GAN):c.*115A>T
|
rs74953839
|
0.00968
|
NM_022041.4(GAN):c.1612+13C>G
|
rs80326128
|
0.00917
|
NM_022041.4(GAN):c.*1268C>T
|
rs182391687
|
0.00845
|
NM_022041.4(GAN):c.1086+259C>T
|
rs76699982
|
0.00814
|
NM_022041.4(GAN):c.*2584A>G
|
rs117621048
|
0.00767
|
NM_022041.4(GAN):c.633+298C>T
|
rs150068961
|
0.00705
|
NM_022041.4(GAN):c.1613-37G>A
|
rs138060293
|
0.00670
|
NM_022041.4(GAN):c.852-25A>G
|
rs141627456
|
0.00633
|
NM_022041.4(GAN):c.1239C>T (p.Ile413=)
|
rs61740238
|
0.00609
|
NM_022041.4(GAN):c.1086+219C>A
|
rs113181080
|
0.00492
|
NC_000016.10:g.81314671G>C
|
rs183398897
|
0.00486
|
NM_022041.4(GAN):c.1502+147G>A
|
rs148340261
|
0.00468
|
NM_022041.4(GAN):c.168-48C>G
|
rs77078389
|
0.00453
|
NM_022041.4(GAN):c.1237-272A>T
|
rs183778604
|
0.00423
|
NM_022041.4(GAN):c.*1113G>A
|
rs114880082
|
0.00415
|
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala)
|
rs79901179
|
0.00388
|
NM_022041.4(GAN):c.634-230C>T
|
rs138324044
|
0.00386
|
NM_022041.4(GAN):c.634-55A>G
|
rs138014404
|
0.00384
|
NM_022041.4(GAN):c.*372G>A
|
rs79192026
|
0.00361
|
NM_022041.4(GAN):c.1182C>T (p.Tyr394=)
|
rs150102659
|
0.00357
|
NM_022041.4(GAN):c.*1175C>A
|
rs142989603
|
0.00284
|
NM_022041.4(GAN):c.974-225G>T
|
rs185343495
|
0.00270
|
NM_022041.4(GAN):c.1502+11A>G
|
rs143413333
|
0.00263
|
NM_022041.4(GAN):c.*747G>T
|
rs148581491
|
0.00262
|
NM_022041.4(GAN):c.*211C>T
|
rs566082565
|
0.00192
|
NM_022041.4(GAN):c.1445C>T (p.Ala482Val)
|
rs146576740
|
0.00169
|
NM_022041.4(GAN):c.*2332T>A
|
rs191866467
|
0.00154
|
NM_022041.4(GAN):c.*816T>C
|
rs188599282
|
0.00144
|
NM_022041.4(GAN):c.633+19A>G
|
rs112194888
|
0.00138
|
NM_022041.4(GAN):c.1612+12A>G
|
rs150344737
|
0.00135
|
NM_022041.4(GAN):c.*1336G>A
|
rs150666164
|
0.00121
|
NM_022041.4(GAN):c.*495G>A
|
rs558701236
|
0.00113
|
NM_022041.4(GAN):c.*1002T>A
|
rs552489170
|
0.00107
|
NM_022041.4(GAN):c.1162C>T (p.Leu388=)
|
rs73589395
|
0.00103
|
NM_022041.4(GAN):c.283-20T>C
|
rs371984923
|
0.00093
|
NM_022041.4(GAN):c.355A>T (p.Thr119Ser)
|
rs141396595
|
0.00086
|
NM_022041.4(GAN):c.*1029C>T
|
rs189688967
|
0.00058
|
NM_022041.4(GAN):c.730A>G (p.Ile244Val)
|
rs200749953
|
0.00051
|
NM_022041.4(GAN):c.*32C>A
|
rs200964845
|
0.00048
|
NM_022041.4(GAN):c.358C>T (p.Leu120=)
|
rs113655220
|
0.00044
|
NM_022041.4(GAN):c.973+6G>A
|
rs372665411
|
0.00044
|
NM_022041.4(GAN):c.*1943T>C
|
rs751490334
|
0.00039
|
NM_022041.4(GAN):c.*2532T>C
|
rs528796667
|
0.00037
|
NM_022041.4(GAN):c.*1368T>C
|
rs568868279
|
0.00031
|
NM_022041.4(GAN):c.*1138A>G
|
rs554886016
|
0.00026
|
NM_022041.4(GAN):c.*1949G>C
|
rs191873952
|
0.00026
|
NM_022041.4(GAN):c.974-11G>C
|
rs753746307
|
0.00026
|
NM_022041.4(GAN):c.*1883C>G
|
rs76019247
|
0.00024
|
NM_022041.4(GAN):c.237G>A (p.Ser79=)
|
rs144007114
|
0.00022
|
NM_022041.4(GAN):c.670T>G (p.Ser224Ala)
|
rs139055455
|
0.00022
|
NM_022041.4(GAN):c.283-14T>C
|
rs369700456
|
0.00019
|
NM_022041.4(GAN):c.634-15T>C
|
rs367608270
|
0.00013
|
NM_022041.4(GAN):c.*48C>T
|
rs182080874
|
0.00012
|
NM_022041.4(GAN):c.1323T>C (p.Tyr441=)
|
rs368072478
|
0.00011
|
NM_022041.4(GAN):c.672A>G (p.Ser224=)
|
rs143692174
|
0.00011
|
NM_022041.4(GAN):c.944C>T (p.Pro315Leu)
|
rs144486241
|
0.00011
|
NM_022041.4(GAN):c.*551C>T
|
rs886052341
|
0.00010
|
NM_022041.4(GAN):c.1511A>G (p.Tyr504Cys)
|
rs147864771
|
0.00010
|
NM_022041.4(GAN):c.1630G>A (p.Val544Met)
|
rs200071978
|
0.00010
|
NM_022041.4(GAN):c.1199C>G (p.Thr400Ser)
|
rs368571975
|
0.00009
|
NM_022041.4(GAN):c.945G>A (p.Pro315=)
|
rs139230642
|
0.00009
|
NM_022041.4(GAN):c.671C>T (p.Ser224Leu)
|
rs554667758
|
0.00008
|
NM_022041.4(GAN):c.1101C>T (p.Phe367=)
|
rs142479585
|
0.00007
|
NM_022041.4(GAN):c.756G>A (p.Pro252=)
|
rs138585506
|
0.00007
|
NM_022041.4(GAN):c.846G>C (p.Glu282Asp)
|
rs778114770
|
0.00007
|
NM_022041.4(GAN):c.*1839G>A
|
rs375907932
|
0.00006
|
NM_022041.4(GAN):c.1327C>A (p.Pro443Thr)
|
rs150043237
|
0.00006
|
NM_022041.4(GAN):c.1373+18G>A
|
rs187260981
|
0.00006
|
NM_022041.4(GAN):c.1444G>A (p.Ala482Thr)
|
rs369693274
|
0.00006
|
NM_022041.4(GAN):c.1539C>T (p.Pro513=)
|
rs774396975
|
0.00006
|
NM_022041.4(GAN):c.501G>A (p.Thr167=)
|
rs770663433
|
0.00006
|
NM_022041.4(GAN):c.782C>T (p.Ala261Val)
|
rs574374537
|
0.00006
|
NM_022041.4(GAN):c.795C>G (p.Asn265Lys)
|
rs373811145
|
0.00006
|
NM_022041.4(GAN):c.*2019A>G
|
rs886052347
|
0.00005
|
NM_022041.4(GAN):c.*810C>A
|
rs886052342
|
0.00005
|
NM_022041.4(GAN):c.1208A>G (p.Lys403Arg)
|
rs780241559
|
0.00005
|
NM_022041.4(GAN):c.*2350T>A
|
rs369040399
|
0.00004
|
NM_022041.4(GAN):c.1065A>C (p.Thr355=)
|
rs370426264
|
0.00004
|
NM_022041.4(GAN):c.1087-16G>A
|
rs767079895
|
0.00004
|
NM_022041.4(GAN):c.1148A>T (p.Asp383Val)
|
rs768562044
|
0.00004
|
NM_022041.4(GAN):c.1519G>A (p.Asp507Asn)
|
rs775432106
|
0.00004
|
NM_022041.4(GAN):c.1689C>T (p.Ser563=)
|
rs375075356
|
0.00004
|
NM_022041.4(GAN):c.1715C>G (p.Ala572Gly)
|
rs778978997
|
0.00004
|
NM_022041.4(GAN):c.1777C>T (p.Arg593Cys)
|
rs886052336
|
0.00004
|
NM_022041.4(GAN):c.444C>T (p.His148=)
|
rs764605890
|
0.00004
|
NM_022041.4(GAN):c.445G>A (p.Val149Ile)
|
rs369703737
|
0.00004
|
NM_022041.4(GAN):c.682T>C (p.Ser228Pro)
|
rs150589329
|
0.00004
|
NM_022041.4(GAN):c.*544C>G
|
rs141552591
|
0.00003
|
NM_022041.4(GAN):c.1147G>A (p.Asp383Asn)
|
rs181568741
|
0.00003
|
NM_022041.4(GAN):c.1195A>G (p.Lys399Glu)
|
rs368231984
|
0.00003
|
NM_022041.4(GAN):c.1373+5G>A
|
rs370881573
|
0.00003
|
NM_022041.4(GAN):c.1374-19G>A
|
rs774299994
|
0.00003
|
NM_022041.4(GAN):c.1634G>A (p.Arg545His)
|
rs746486469
|
0.00003
|
NM_022041.4(GAN):c.1778G>A (p.Arg593His)
|
rs751430474
|
0.00003
|
NM_022041.4(GAN):c.238G>C (p.Val80Leu)
|
rs146629249
|
0.00003
|
NM_022041.4(GAN):c.282+15_282+18del
|
rs778175591
|
0.00003
|
NM_022041.4(GAN):c.283-15A>G
|
rs754182168
|
0.00003
|
NM_022041.4(GAN):c.345G>A (p.Thr115=)
|
rs768322742
|
0.00003
|
NM_022041.4(GAN):c.479A>G (p.His160Arg)
|
rs373474009
|
0.00003
|
NM_022041.4(GAN):c.490G>A (p.Val164Ile)
|
rs778744880
|
0.00003
|
NM_022041.4(GAN):c.564C>T (p.Asn188=)
|
rs201884522
|
0.00003
|
NM_022041.4(GAN):c.701A>T (p.Gln234Leu)
|
rs1323162015
|
0.00003
|
NM_022041.4(GAN):c.805C>T (p.Arg269Trp)
|
rs776397915
|
0.00003
|
NM_022041.4(GAN):c.972A>T (p.Ala324=)
|
rs1430569033
|
0.00003
|
NM_022041.4(GAN):c.*1557C>A
|
rs528748555
|
0.00002
|
NM_022041.4(GAN):c.*1747A>G
|
rs886052346
|
0.00002
|
NM_022041.4(GAN):c.*381G>A
|
rs886052340
|
0.00002
|
NM_022041.4(GAN):c.1016A>G (p.Gln339Arg)
|
rs1462816857
|
0.00002
|
NM_022041.4(GAN):c.1045C>T (p.Pro349Ser)
|
rs374004725
|
0.00002
|
NM_022041.4(GAN):c.1132A>G (p.Ile378Val)
|
rs571347913
|
0.00002
|
NM_022041.4(GAN):c.1170C>T (p.Ser390=)
|
rs761777220
|
0.00002
|
NM_022041.4(GAN):c.1171A>G (p.Met391Val)
|
rs367600164
|
0.00002
|
NM_022041.4(GAN):c.1251A>G (p.Ala417=)
|
rs765463525
|
0.00002
|
NM_022041.4(GAN):c.1368G>C (p.Glu456Asp)
|
rs1034754708
|
0.00002
|
NM_022041.4(GAN):c.1388C>T (p.Ala463Val)
|
rs200342055
|
0.00002
|
NM_022041.4(GAN):c.1518C>T (p.Asn506=)
|
rs886052333
|
0.00002
|
NM_022041.4(GAN):c.1678C>T (p.Leu560Phe)
|
rs143179676
|
0.00002
|
NM_022041.4(GAN):c.1788C>A (p.Ser596=)
|
rs780630449
|
0.00002
|
NM_022041.4(GAN):c.311A>G (p.Asp104Gly)
|
rs773783945
|
0.00002
|
NM_022041.4(GAN):c.330C>T (p.Asp110=)
|
rs200045368
|
0.00002
|
NM_022041.4(GAN):c.528A>G (p.Gln176=)
|
rs112693832
|
0.00002
|
NM_022041.4(GAN):c.625A>G (p.Ile209Val)
|
rs369789553
|
0.00002
|
NM_022041.4(GAN):c.755C>T (p.Pro252Leu)
|
rs768875907
|
0.00002
|
NM_022041.4(GAN):c.761G>A (p.Ser254Asn)
|
rs748422716
|
0.00002
|
NM_022041.4(GAN):c.862C>G (p.Pro288Ala)
|
rs1249160013
|
0.00002
|
NM_022041.4(GAN):c.*1102A>G
|
rs1394891003
|
0.00001
|
NM_022041.4(GAN):c.*2027T>A
|
rs886052348
|
0.00001
|
NM_022041.4(GAN):c.*2492T>A
|
rs886052354
|
0.00001
|
NM_022041.4(GAN):c.1017G>A (p.Gln339=)
|
rs201451382
|
0.00001
|
NM_022041.4(GAN):c.1038G>A (p.Lys346=)
|
rs751149887
|
0.00001
|
NM_022041.4(GAN):c.1055A>G (p.Asn352Ser)
|
rs779203584
|
0.00001
|
NM_022041.4(GAN):c.1059A>G (p.Thr353=)
|
rs1270126640
|
0.00001
|
NM_022041.4(GAN):c.1084G>A (p.Glu362Lys)
|
rs587779384
|
0.00001
|
NM_022041.4(GAN):c.1086+8A>C
|
rs766772301
|
0.00001
|
NM_022041.4(GAN):c.1086+9C>G
|
rs762904814
|
0.00001
|
NM_022041.4(GAN):c.1087-17C>T
|
rs761900137
|
0.00001
|
NM_022041.4(GAN):c.1102G>A (p.Gly368Arg)
|
rs758756818
|
0.00001
|
NM_022041.4(GAN):c.1123A>T (p.Met375Leu)
|
rs201252856
|
0.00001
|
NM_022041.4(GAN):c.1165A>T (p.Ile389Phe)
|
rs1471052510
|
0.00001
|
NM_022041.4(GAN):c.1193C>G (p.Ser398Cys)
|
rs1334144379
|
0.00001
|
NM_022041.4(GAN):c.1212A>G (p.Gln404=)
|
rs1273605833
|
0.00001
|
NM_022041.4(GAN):c.1229T>G (p.Val410Gly)
|
rs1484191388
|
0.00001
|
NM_022041.4(GAN):c.1236+11C>T
|
rs760722729
|
0.00001
|
NM_022041.4(GAN):c.1241G>A (p.Gly414Asp)
|
rs761827117
|
0.00001
|
NM_022041.4(GAN):c.1252G>C (p.Ala418Pro)
|
rs752800283
|
0.00001
|
NM_022041.4(GAN):c.1272C>T (p.Tyr424=)
|
rs1386745649
|
0.00001
|
NM_022041.4(GAN):c.1276A>G (p.Met426Val)
|
rs757050107
|
0.00001
|
NM_022041.4(GAN):c.1287C>T (p.Gly429=)
|
rs563049431
|
0.00001
|
NM_022041.4(GAN):c.1382C>T (p.Ala461Val)
|
rs753748994
|
0.00001
|
NM_022041.4(GAN):c.1383G>A (p.Ala461=)
|
rs147725941
|
0.00001
|
NM_022041.4(GAN):c.1384G>A (p.Val462Met)
|
rs199870222
|
0.00001
|
NM_022041.4(GAN):c.1391G>A (p.Cys464Tyr)
|
rs777535272
|
0.00001
|
NM_022041.4(GAN):c.1398T>C (p.Val466=)
|
rs756485979
|
0.00001
|
NM_022041.4(GAN):c.1402A>G (p.Met468Val)
|
rs375408288
|
0.00001
|
NM_022041.4(GAN):c.1412A>G (p.Tyr471Cys)
|
rs769076379
|
0.00001
|
NM_022041.4(GAN):c.1416G>A (p.Val472=)
|
rs998119133
|
0.00001
|
NM_022041.4(GAN):c.1430G>A (p.Arg477Gln)
|
rs748209210
|
0.00001
|
NM_022041.4(GAN):c.1436G>A (p.Arg479His)
|
rs750919773
|
0.00001
|
NM_022041.4(GAN):c.1447C>T (p.Gln483Ter)
|
rs119485089
|
0.00001
|
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys)
|
rs119485088
|
0.00001
|
NM_022041.4(GAN):c.1476C>T (p.Ser492=)
|
rs756866064
|
0.00001
|
NM_022041.4(GAN):c.1477G>A (p.Glu493Lys)
|
rs780427229
|
0.00001
|
NM_022041.4(GAN):c.1494G>C (p.Glu498Asp)
|
rs755423556
|
0.00001
|
NM_022041.4(GAN):c.1499A>G (p.Lys500Arg)
|
rs199515586
|
0.00001
|
NM_022041.4(GAN):c.1505G>A (p.Trp502Ter)
|
rs1597414001
|
0.00001
|
NM_022041.4(GAN):c.1590T>C (p.Tyr530=)
|
rs1474222234
|
0.00001
|
NM_022041.4(GAN):c.1596T>C (p.Ile532=)
|
rs371157573
|
0.00001
|
NM_022041.4(GAN):c.1612+4A>G
|
rs376218401
|
0.00001
|
NM_022041.4(GAN):c.1624G>A (p.Asp542Asn)
|
rs747972511
|
0.00001
|
NM_022041.4(GAN):c.1628A>G (p.Tyr543Cys)
|
rs879253958
|
0.00001
|
NM_022041.4(GAN):c.1629C>T (p.Tyr543=)
|
rs772065469
|
0.00001
|
NM_022041.4(GAN):c.1658C>A (p.Thr553Asn)
|
rs759200321
|
0.00001
|
NM_022041.4(GAN):c.168-5C>G
|
rs1355051159
|
0.00001
|
NM_022041.4(GAN):c.1686A>C (p.Pro562=)
|
rs1306397594
|
0.00001
|
NM_022041.4(GAN):c.1714G>C (p.Ala572Pro)
|
rs554430005
|
0.00001
|
NM_022041.4(GAN):c.173A>G (p.Lys58Arg)
|
rs1265285256
|
0.00001
|
NM_022041.4(GAN):c.1772G>A (p.Arg591His)
|
rs777556243
|
0.00001
|
NM_022041.4(GAN):c.236C>T (p.Ser79Leu)
|
rs1310137430
|
0.00001
|
NM_022041.4(GAN):c.244G>C (p.Val82Leu)
|
rs371054532
|
0.00001
|
NM_022041.4(GAN):c.247A>G (p.Met83Val)
|
rs770847887
|
0.00001
|
NM_022041.4(GAN):c.282G>A (p.Gln94=)
|
rs1039007762
|
0.00001
|
NM_022041.4(GAN):c.283-10A>G
|
rs759028377
|
0.00001
|
NM_022041.4(GAN):c.295G>A (p.Glu99Lys)
|
rs746154353
|
0.00001
|
NM_022041.4(GAN):c.307C>T (p.Gln103Ter)
|
rs1313883569
|
0.00001
|
NM_022041.4(GAN):c.333G>C (p.Leu111=)
|
rs753122436
|
0.00001
|
NM_022041.4(GAN):c.403A>G (p.Ile135Val)
|
rs748121633
|
0.00001
|
NM_022041.4(GAN):c.405T>A (p.Ile135=)
|
rs771476213
|
0.00001
|
NM_022041.4(GAN):c.417C>G (p.Asp139Glu)
|
rs770618198
|
0.00001
|
NM_022041.4(GAN):c.428A>G (p.His143Arg)
|
rs1330501647
|
0.00001
|
NM_022041.4(GAN):c.453C>T (p.Tyr151=)
|
rs762452364
|
0.00001
|
NM_022041.4(GAN):c.471G>A (p.Leu157=)
|
rs143704621
|
0.00001
|
NM_022041.4(GAN):c.492C>T (p.Val164=)
|
rs553692036
|
0.00001
|
NM_022041.4(GAN):c.500C>T (p.Thr167Met)
|
rs143187097
|
0.00001
|
NM_022041.4(GAN):c.545T>A (p.Ile182Asn)
|
rs1258332075
|
0.00001
|
NM_022041.4(GAN):c.565G>A (p.Val189Ile)
|
rs766484755
|
0.00001
|
NM_022041.4(GAN):c.572A>G (p.Asn191Ser)
|
rs139748896
|
0.00001
|
NM_022041.4(GAN):c.580T>G (p.Tyr194Asp)
|
rs1910428014
|
0.00001
|
NM_022041.4(GAN):c.601C>T (p.Arg201Ter)
|
rs119485090
|
0.00001
|
NM_022041.4(GAN):c.602G>A (p.Arg201Gln)
|
rs967957134
|
0.00001
|
NM_022041.4(GAN):c.634-6C>T
|
rs199874705
|
0.00001
|
NM_022041.4(GAN):c.637C>A (p.His213Asn)
|
rs755664230
|
0.00001
|
NM_022041.4(GAN):c.638A>G (p.His213Arg)
|
rs749117247
|
0.00001
|
NM_022041.4(GAN):c.642G>A (p.Met214Ile)
|
rs374659636
|
0.00001
|
NM_022041.4(GAN):c.695G>A (p.Arg232Gln)
|
rs760587601
|
0.00001
|
NM_022041.4(GAN):c.715C>G (p.Pro239Ala)
|
rs184128641
|
0.00001
|
NM_022041.4(GAN):c.725G>A (p.Arg242Gln)
|
rs371906996
|
0.00001
|
NM_022041.4(GAN):c.741G>A (p.Glu247=)
|
rs781606880
|
0.00001
|
NM_022041.4(GAN):c.743G>A (p.Cys248Tyr)
|
rs377034780
|
0.00001
|
NM_022041.4(GAN):c.787C>A (p.Leu263Met)
|
rs777669477
|
0.00001
|
NM_022041.4(GAN):c.801A>G (p.Lys267=)
|
rs746799355
|
0.00001
|
NM_022041.4(GAN):c.806G>A (p.Arg269Gln)
|
rs759581558
|
0.00001
|
NM_022041.4(GAN):c.822C>T (p.Cys274=)
|
rs1437220056
|
0.00001
|
NM_022041.4(GAN):c.831T>G (p.Thr277=)
|
rs1337406075
|
0.00001
|
NM_022041.4(GAN):c.851+1G>A
|
rs747291494
|
0.00001
|
NM_022041.4(GAN):c.852-8T>C
|
rs780786555
|
0.00001
|
NM_022041.4(GAN):c.856C>T (p.Arg286Trp)
|
rs756000444
|
0.00001
|
NM_022041.4(GAN):c.868G>T (p.Ala290Ser)
|
rs943541215
|
0.00001
|
NM_022041.4(GAN):c.877C>T (p.Arg293Ter)
|
rs370358470
|
0.00001
|
NM_022041.4(GAN):c.884T>C (p.Met295Thr)
|
rs747687913
|
0.00001
|
NM_022041.4(GAN):c.896A>G (p.Tyr299Cys)
|
rs1254823893
|
0.00001
|
NM_022041.4(GAN):c.937A>G (p.Ser313Gly)
|
rs751666826
|
0.00001
|
NM_022041.4(GAN):c.955C>A (p.His319Asn)
|
rs779893652
|
0.00001
|
NM_022041.4(GAN):c.971C>T (p.Ala324Val)
|
rs778244338
|
0.00001
|
NM_022041.4(GAN):c.973+9C>G
|
rs1383717688
|
0.00001
|
NM_022041.4(GAN):c.974-13T>C
|
rs996280683
|
0.00001
|
NM_022041.4(GAN):c.993C>T (p.Phe331=)
|
rs199908897
|
0.00001
|
GRCh37/hg19 16q23.2(chr16:81372725-81460969)x1
|
|
|
GRCh37/hg19 16q23.2(chr16:81375314-81433415)
|
|
|
GRCh37/hg19 16q23.2(chr16:81380493-81433070)x1
|
|
|
NC_000016.9:g.(81367334_81379355)_(81401689_81410823)del
|
|
|
NC_000016.9:g.(?_81348719)_(81348905_?)dup
|
|
|
NC_000016.9:g.(?_81348719)_(81396236_?)dup
|
|
|
NC_000016.9:g.(?_81348719)_(81411201_?)dup
|
|
|
NC_000016.9:g.(?_81396084)_(81411201_?)dup
|
|
|
NM_022041.4(GAN):c.*1454_*1455dup
|
rs3214897
|
|
NM_022041.4(GAN):c.*1455del
|
rs3214897
|
|
NM_022041.4(GAN):c.*1455dup
|
rs3214897
|
|
NM_022041.4(GAN):c.*1585T>C
|
rs886052344
|
|
NM_022041.4(GAN):c.*1659del
|
rs546229255
|
|
NM_022041.4(GAN):c.*1670C>T
|
rs569008014
|
|
NM_022041.4(GAN):c.*176G>T
|
rs1196229669
|
|
NM_022041.4(GAN):c.*1820G>A
|
rs561770690
|
|
NM_022041.4(GAN):c.*1GGA[1] (p.Ter598=)
|
rs781299447
|
|
NM_022041.4(GAN):c.*2125A>G
|
rs1904295878
|
|
NM_022041.4(GAN):c.*214C>T
|
rs886052338
|
|
NM_022041.4(GAN):c.*2280G>C
|
rs886052349
|
|
NM_022041.4(GAN):c.*2332del
|
rs533512036
|
|
NM_022041.4(GAN):c.*2332dup
|
rs533512036
|
|
NM_022041.4(GAN):c.*237T>A
|
rs113064319
|
|
NM_022041.4(GAN):c.*2457T>C
|
rs886052352
|
|
NM_022041.4(GAN):c.*2485A>G
|
rs886052353
|
|
NM_022041.4(GAN):c.*291A>G
|
rs541752526
|
|
NM_022041.4(GAN):c.*360G>A
|
rs886052339
|
|
NM_022041.4(GAN):c.*360G>T
|
rs886052339
|
|
NM_022041.4(GAN):c.*45T>C
|
rs886052337
|
|
NM_022041.4(GAN):c.*644T>C
|
rs1006920510
|
|
NM_022041.4(GAN):c.*733G>A
|
rs530029543
|
|
NM_022041.4(GAN):c.*964C>G
|
rs535218815
|
|
NM_022041.4(GAN):c.-111G>A
|
rs12929567
|
|
NM_022041.4(GAN):c.1012A>G (p.Lys338Glu)
|
|
|
NM_022041.4(GAN):c.1012A>T (p.Lys338Ter)
|
rs1181977802
|
|
NM_022041.4(GAN):c.1015C>G (p.Gln339Glu)
|
rs759342719
|
|
NM_022041.4(GAN):c.1020T>A (p.Thr340=)
|
rs1404742641
|
|
NM_022041.4(GAN):c.1022T>C (p.Leu341Pro)
|
rs1555511769
|
|
NM_022041.4(GAN):c.1037A>G (p.Lys346Arg)
|
rs2150690226
|
|
NM_022041.4(GAN):c.1045C>G (p.Pro349Ala)
|
rs374004725
|
|
NM_022041.4(GAN):c.1048G>A (p.Asp350Asn)
|
|
|
NM_022041.4(GAN):c.1051G>T (p.Ala351Ser)
|
|
|
NM_022041.4(GAN):c.1059A>C (p.Thr353=)
|
|
|
NM_022041.4(GAN):c.1074A>G (p.Pro358=)
|
|
|
NM_022041.4(GAN):c.1084G>C (p.Glu362Gln)
|
|
|
NM_022041.4(GAN):c.1086+10T>G
|
|
|
NM_022041.4(GAN):c.1086+13T>G
|
|
|
NM_022041.4(GAN):c.1086+19_1086+22del
|
rs1215210527
|
|
NM_022041.4(GAN):c.1086+1G>C
|
rs1597405785
|
|
NM_022041.4(GAN):c.1086+25_1086+28del
|
rs561109989
|
|
NM_022041.4(GAN):c.1086+269C>T
|
rs11866700
|
|
NM_022041.4(GAN):c.1086+51C>T
|
rs78861333
|
|
NM_022041.4(GAN):c.1086+6A>T
|
|
|
NM_022041.4(GAN):c.1087-314dup
|
rs35727292
|
|
NM_022041.4(GAN):c.1094A>G (p.His365Arg)
|
|
|
NM_022041.4(GAN):c.1101C>A (p.Phe367Leu)
|
|
|
NM_022041.4(GAN):c.1112_1124delinsGA (p.Glu371fs)
|
|
|
NM_022041.4(GAN):c.1118A>T (p.Asp373Val)
|
|
|
NM_022041.4(GAN):c.1123A>G (p.Met375Val)
|
rs201252856
|
|
NM_022041.4(GAN):c.1139G>T (p.Gly380Val)
|
rs1427637335
|
|
NM_022041.4(GAN):c.1140A>G (p.Gly380=)
|
|
|
NM_022041.4(GAN):c.1157del (p.Lys386fs)
|
rs1555511861
|
|
NM_022041.4(GAN):c.1162del (p.Glu387_Leu388insTer)
|
rs1910760503
|
|
NM_022041.4(GAN):c.1177T>C (p.Cys393Arg)
|
|
|
NM_022041.4(GAN):c.1178G>A (p.Cys393Tyr)
|
rs951138056
|
|
NM_022041.4(GAN):c.1179T>A (p.Cys393Ter)
|
rs1597406427
|
|
NM_022041.4(GAN):c.1182C>A (p.Tyr394Ter)
|
|
|
NM_022041.4(GAN):c.1182C>G (p.Tyr394Ter)
|
|
|
NM_022041.4(GAN):c.1183G>A (p.Asp395Asn)
|
rs142456623
|
|
NM_022041.4(GAN):c.1183G>C (p.Asp395His)
|
rs142456623
|
|
NM_022041.4(GAN):c.1184A>G (p.Asp395Gly)
|
|
|
NM_022041.4(GAN):c.1191T>A (p.Tyr397Ter)
|
|
|
NM_022041.4(GAN):c.1199C>T (p.Thr400Ile)
|
rs368571975
|
|
NM_022041.4(GAN):c.1203G>A (p.Trp401Ter)
|
rs1349484624
|
|
NM_022041.4(GAN):c.1205C>T (p.Thr402Ile)
|
|
|
NM_022041.4(GAN):c.1209G>A (p.Lys403=)
|
|
|
NM_022041.4(GAN):c.1209G>T (p.Lys403Asn)
|
|
|
NM_022041.4(GAN):c.1210C>G (p.Gln404Glu)
|
rs1190709905
|
|
NM_022041.4(GAN):c.1213C>A (p.Pro405Thr)
|
rs912274293
|
|
NM_022041.4(GAN):c.1214C>G (p.Pro405Arg)
|
|
|
NM_022041.4(GAN):c.1220T>C (p.Leu407Ser)
|
|
|
NM_022041.4(GAN):c.1228G>A (p.Val410Ile)
|
|
|
NM_022041.4(GAN):c.1236+17G>T
|
|
|
NM_022041.4(GAN):c.1236+7A>T
|
rs1910763781
|
|
NM_022041.4(GAN):c.1237-109C>G
|
rs114761726
|
|
NM_022041.4(GAN):c.1237-17T>C
|
|
|
NM_022041.4(GAN):c.1237-1G>A
|
rs1597407007
|
|
NM_022041.4(GAN):c.1240G>A (p.Gly414Ser)
|
|
|
NM_022041.4(GAN):c.1245C>T (p.Cys415=)
|
rs754447332
|
|
NM_022041.4(GAN):c.1248T>C (p.Tyr416=)
|
rs2150691593
|
|
NM_022041.4(GAN):c.1259A>C (p.Lys420Thr)
|
rs879254174
|
|
NM_022041.4(GAN):c.1260A>G (p.Lys420=)
|
|
|
NM_022041.4(GAN):c.1263_1264del (p.Lys422fs)
|
rs2150691608
|
|
NM_022041.4(GAN):c.1268T>C (p.Ile423Thr)
|
rs119485091
|
|
NM_022041.4(GAN):c.1273G>A (p.Ala425Thr)
|
|
|
NM_022041.4(GAN):c.1287C>G (p.Gly429=)
|
rs563049431
|
|
NM_022041.4(GAN):c.1310C>G (p.Ser437Cys)
|
rs1464376673
|
|
NM_022041.4(GAN):c.1312G>A (p.Val438Ile)
|
rs1246053880
|
|
NM_022041.4(GAN):c.1314A>G (p.Val438=)
|
|
|
NM_022041.4(GAN):c.1315G>A (p.Glu439Lys)
|
rs2150691652
|
|
NM_022041.4(GAN):c.1327C>G (p.Pro443Ala)
|
rs150043237
|
|
NM_022041.4(GAN):c.1329C>T (p.Pro443=)
|
|
|
NM_022041.4(GAN):c.1330A>C (p.Arg444=)
|
rs2150691667
|
|
NM_022041.4(GAN):c.1332G>A (p.Arg444=)
|
|
|
NM_022041.4(GAN):c.1334C>T (p.Thr445Ile)
|
|
|
NM_022041.4(GAN):c.1335C>T (p.Thr445=)
|
rs752853627
|
|
NM_022041.4(GAN):c.1343G>T (p.Trp448Leu)
|
rs1597407111
|
|
NM_022041.4(GAN):c.1360C>G (p.Leu454Val)
|
|
|
NM_022041.4(GAN):c.1362A>G (p.Leu454=)
|
rs1057521345
|
|
NM_022041.4(GAN):c.1367_1369del (p.Glu456_Arg457delinsGly)
|
rs1910807452
|
|
NM_022041.4(GAN):c.1373+14G>A
|
rs2150691717
|
|
NM_022041.4(GAN):c.1373+1G>A
|
rs1597407138
|
|
NM_022041.4(GAN):c.1373+4C>G
|
rs137934652
|
|
NM_022041.4(GAN):c.1373+4C>T
|
rs137934652
|
|
NM_022041.4(GAN):c.1373+9C>T
|
rs1597407148
|
|
NM_022041.4(GAN):c.1374-18C>G
|
|
|
NM_022041.4(GAN):c.1374-18C>T
|
rs761982534
|
|
NM_022041.4(GAN):c.1374-20C>T
|
|
|
NM_022041.4(GAN):c.1377T>C (p.Phe459=)
|
|
|
NM_022041.4(GAN):c.1381G>A (p.Ala461Thr)
|
rs766155831
|
|
NM_022041.4(GAN):c.1381_1382delinsTT (p.Ala461Leu)
|
rs1597407293
|
|
NM_022041.4(GAN):c.1382C>A (p.Ala461Glu)
|
rs753748994
|
|
NM_022041.4(GAN):c.1387G>A (p.Ala463Thr)
|
|
|
NM_022041.4(GAN):c.1402A>T (p.Met468Leu)
|
rs375408288
|
|
NM_022041.4(GAN):c.1408C>T (p.Leu470=)
|
|
|
NM_022041.4(GAN):c.1410G>C (p.Leu470=)
|
rs1365354116
|
|
NM_022041.4(GAN):c.1412A>T (p.Tyr471Phe)
|
rs769076379
|
|
NM_022041.4(GAN):c.1417T>C (p.Phe473Leu)
|
|
|
NM_022041.4(GAN):c.1418T>C (p.Phe473Ser)
|
rs1910819905
|
|
NM_022041.4(GAN):c.1420G>C (p.Gly474Arg)
|
rs1435035575
|
|
NM_022041.4(GAN):c.1428C>T (p.Val476=)
|
|
|
NM_022041.4(GAN):c.1429C>T (p.Arg477Ter)
|
rs119485094
|
|
NM_022041.4(GAN):c.1442A>G (p.Asp481Gly)
|
rs1713848888
|
|
NM_022041.4(GAN):c.1442A>T (p.Asp481Val)
|
rs1713848888
|
|
NM_022041.4(GAN):c.1446C>G (p.Ala482=)
|
rs766129455
|
|
NM_022041.4(GAN):c.1474T>G (p.Ser492Ala)
|
rs1597407371
|
|
NM_022041.4(GAN):c.1479G>A (p.Glu493=)
|
|
|
NM_022041.4(GAN):c.1485C>A (p.Tyr495Ter)
|
rs2150691981
|
|
NM_022041.4(GAN):c.1494G>A (p.Glu498=)
|
rs755423556
|
|
NM_022041.4(GAN):c.1502+11dup
|
|
|
NM_022041.4(GAN):c.1502+14G>T
|
rs1173298687
|
|
NM_022041.4(GAN):c.1502+1G>T
|
rs1555511978
|
|
NM_022041.4(GAN):c.1502+20C>G
|
|
|
NM_022041.4(GAN):c.1502+4A>G
|
rs748724208
|
|
NM_022041.4(GAN):c.1503-16T>C
|
|
|
NM_022041.4(GAN):c.1503-2A>G
|
|
|
NM_022041.4(GAN):c.1503-6T>C
|
|
|
NM_022041.4(GAN):c.1503-7T>C
|
rs1387006177
|
|
NM_022041.4(GAN):c.1503-8G>A
|
|
|
NM_022041.4(GAN):c.1506G>T (p.Trp502Cys)
|
rs1324877107
|
|
NM_022041.4(GAN):c.1521C>G (p.Asp507Glu)
|
|
|
NM_022041.4(GAN):c.1521C>T (p.Asp507=)
|
|
|
NM_022041.4(GAN):c.1525A>C (p.Asn509His)
|
|
|
NM_022041.4(GAN):c.1529T>G (p.Leu510Ter)
|
|
|
NM_022041.4(GAN):c.1537C>G (p.Pro513Ala)
|
|
|
NM_022041.4(GAN):c.1540G>C (p.Ala514Pro)
|
rs761202265
|
|
NM_022041.4(GAN):c.1544G>C (p.Ser515Thr)
|
rs2150698818
|
|
NM_022041.4(GAN):c.1549T>C (p.Ser517Pro)
|
rs1567501233
|
|
NM_022041.4(GAN):c.1553_1554del (p.Phe518fs)
|
rs1597414034
|
|
NM_022041.4(GAN):c.1560T>C (p.Tyr520=)
|
rs2150698823
|
|
NM_022041.4(GAN):c.1565C>T (p.Ala522Val)
|
rs1904284654
|
|
NM_022041.4(GAN):c.1570C>T (p.Pro524Ser)
|
|
|
NM_022041.4(GAN):c.1577G>T (p.Gly526Val)
|
rs1904284720
|
|
NM_022041.4(GAN):c.1583G>T (p.Ser528Ile)
|
rs1904284730
|
|
NM_022041.4(GAN):c.1593T>A (p.Val531=)
|
rs141592516
|
|
NM_022041.4(GAN):c.1593T>G (p.Val531=)
|
rs141592516
|
|
NM_022041.4(GAN):c.1612+15G>T
|
|
|
NM_022041.4(GAN):c.1612+16T>G
|
|
|
NM_022041.4(GAN):c.1612+7G>A
|
|
|
NM_022041.4(GAN):c.1616C>G (p.Thr539Ser)
|
|
|
NM_022041.4(GAN):c.1617C>T (p.Thr539=)
|
|
|
NM_022041.4(GAN):c.1629C>A (p.Tyr543Ter)
|
|
|
NM_022041.4(GAN):c.1633C>T (p.Arg545Cys)
|
rs112201678
|
|
NM_022041.4(GAN):c.1634G>T (p.Arg545Leu)
|
rs746486469
|
|
NM_022041.4(GAN):c.1650C>T (p.Ser550=)
|
|
|
NM_022041.4(GAN):c.1651A>G (p.Thr551Ala)
|
|
|
NM_022041.4(GAN):c.1658C>G (p.Thr553Ser)
|
rs759200321
|
|
NM_022041.4(GAN):c.1658C>T (p.Thr553Ile)
|
|
|
NM_022041.4(GAN):c.1665C>G (p.His555Gln)
|
rs886052334
|
|
NM_022041.4(GAN):c.1670C>G (p.Thr557Ser)
|
|
|
NM_022041.4(GAN):c.168-11C>T
|
|
|
NM_022041.4(GAN):c.168-12T>C
|
|
|
NM_022041.4(GAN):c.168-12dup
|
|
|
NM_022041.4(GAN):c.168-19A>G
|
|
|
NM_022041.4(GAN):c.168-1G>A
|
rs1597399963
|
|
NM_022041.4(GAN):c.1680C>G (p.Leu560=)
|
|
|
NM_022041.4(GAN):c.1688C>G (p.Ser563Cys)
|
rs1378724061
|
|
NM_022041.4(GAN):c.1689C>A (p.Ser563=)
|
|
|
NM_022041.4(GAN):c.1690G>C (p.Asp564His)
|
rs755259336
|
|
NM_022041.4(GAN):c.1690dup (p.Asp564fs)
|
|
|
NM_022041.4(GAN):c.1697G>A (p.Arg566His)
|
|
|
NM_022041.4(GAN):c.1699C>A (p.Arg567Ser)
|
rs886052335
|
|
NM_022041.4(GAN):c.1699C>T (p.Arg567Cys)
|
rs886052335
|
|
NM_022041.4(GAN):c.1703C>T (p.Thr568Ile)
|
rs2150698993
|
|
NM_022041.4(GAN):c.1707A>G (p.Gly569=)
|
rs942456904
|
|
NM_022041.4(GAN):c.1709G>A (p.Cys570Tyr)
|
rs1597414244
|
|
NM_022041.4(GAN):c.170C>T (p.Thr57Ile)
|
rs2150683797
|
|
NM_022041.4(GAN):c.1713A>T (p.Ala571=)
|
|
|
NM_022041.4(GAN):c.1716C>G (p.Ala572=)
|
rs1434797669
|
|
NM_022041.4(GAN):c.1716C>T (p.Ala572=)
|
|
|
NM_022041.4(GAN):c.1720C>T (p.Arg574Cys)
|
rs1567501486
|
|
NM_022041.4(GAN):c.1721G>A (p.Arg574His)
|
rs1394459173
|
|
NM_022041.4(GAN):c.1723A>G (p.Ile575Val)
|
|
|
NM_022041.4(GAN):c.1723A>T (p.Ile575Phe)
|
|
|
NM_022041.4(GAN):c.1727C>T (p.Ala576Val)
|
|
|
NM_022041.4(GAN):c.1728G>C (p.Ala576=)
|
rs150342446
|
|
NM_022041.4(GAN):c.1734C>G (p.Cys578Trp)
|
rs1904285898
|
|
NM_022041.4(GAN):c.1744C>T (p.Arg582Cys)
|
rs772385806
|
|
NM_022041.4(GAN):c.1745G>A (p.Arg582His)
|
rs773845697
|
|
NM_022041.4(GAN):c.1745G>T (p.Arg582Leu)
|
|
|
NM_022041.4(GAN):c.1748T>C (p.Leu583Pro)
|
rs766504625
|
|
NM_022041.4(GAN):c.1749G>A (p.Leu583=)
|
|
|
NM_022041.4(GAN):c.1758G>C (p.Gln586His)
|
|
|
NM_022041.4(GAN):c.1771C>T (p.Arg591Cys)
|
|
|
NM_022041.4(GAN):c.1780G>T (p.Val594Phe)
|
|
|
NM_022041.4(GAN):c.1783C>T (p.His595Tyr)
|
rs757216350
|
|
NM_022041.4(GAN):c.1792del (p.Ter598GluextTer?)
|
rs755084684
|
|
NM_022041.4(GAN):c.182A>G (p.Tyr61Cys)
|
|
|
NM_022041.4(GAN):c.188C>T (p.Pro63Leu)
|
rs1400059269
|
|
NM_022041.4(GAN):c.198T>G (p.Asp66Glu)
|
rs1910302068
|
|
NM_022041.4(GAN):c.200A>G (p.Asp67Gly)
|
rs2150683815
|
|
NM_022041.4(GAN):c.201T>C (p.Asp67=)
|
|
|
NM_022041.4(GAN):c.202G>T (p.Gly68Ter)
|
rs2150683817
|
|
NM_022041.4(GAN):c.204A>G (p.Gly68=)
|
|
|
NM_022041.4(GAN):c.206_213dup (p.Lys72fs)
|
|
|
NM_022041.4(GAN):c.213T>A (p.Tyr71Ter)
|
rs750735081
|
|
NM_022041.4(GAN):c.215A>T (p.Lys72Met)
|
|
|
NM_022041.4(GAN):c.216G>A (p.Lys72=)
|
rs780435880
|
|
NM_022041.4(GAN):c.218T>C (p.Ile73Thr)
|
rs377294873
|
|
NM_022041.4(GAN):c.224T>A (p.Leu75His)
|
rs1597399997
|
|
NM_022041.4(GAN):c.231G>T (p.Gly77=)
|
|
|
NM_022041.4(GAN):c.238G>T (p.Val80Leu)
|
rs146629249
|
|
NM_022041.4(GAN):c.244G>T (p.Val82Phe)
|
rs371054532
|
|
NM_022041.4(GAN):c.246T>G (p.Val82=)
|
|
|
NM_022041.4(GAN):c.252A>G (p.Arg84=)
|
|
|
NM_022041.4(GAN):c.255G>A (p.Glu85=)
|
rs911350150
|
|
NM_022041.4(GAN):c.256A>T (p.Ile86Phe)
|
rs1597400020
|
|
NM_022041.4(GAN):c.260T>G (p.Leu87Arg)
|
|
|
NM_022041.4(GAN):c.266A>G (p.Tyr89Cys)
|
rs1597400024
|
|
NM_022041.4(GAN):c.274A>C (p.Ser92Arg)
|
rs1910305049
|
|
NM_022041.4(GAN):c.275G>T (p.Ser92Ile)
|
rs1910305133
|
|
NM_022041.4(GAN):c.279G>T (p.Gly93=)
|
|
|
NM_022041.4(GAN):c.280C>T (p.Gln94Ter)
|
|
|
NM_022041.4(GAN):c.282+2T>A
|
|
|
NM_022041.4(GAN):c.282+3A>C
|
rs1597400032
|
|
NM_022041.4(GAN):c.282+7_282+9del
|
rs563977770
|
|
NM_022041.4(GAN):c.283-149del
|
rs5818329
|
|
NM_022041.4(GAN):c.283-149dup
|
rs5818329
|
|
NM_022041.4(GAN):c.283-150_283-149del
|
rs5818329
|
|
NM_022041.4(GAN):c.283-229A>G
|
rs185763368
|
|
NM_022041.4(GAN):c.283-3T>A
|
rs1910414763
|
|
NM_022041.4(GAN):c.288G>A (p.Arg96=)
|
|
|
NM_022041.4(GAN):c.288G>T (p.Arg96Ser)
|
|
|
NM_022041.4(GAN):c.289C>G (p.Leu97Val)
|
|
|
NM_022041.4(GAN):c.293A>G (p.Asn98Ser)
|
|
|
NM_022041.4(GAN):c.300T>C (p.Asp100=)
|
rs1910415566
|
|
NM_022041.4(GAN):c.301dup (p.Thr101fs)
|
rs2150685528
|
|
NM_022041.4(GAN):c.302C>A (p.Thr101Lys)
|
rs769446654
|
|
NM_022041.4(GAN):c.304A>C (p.Ile102Leu)
|
|
|
NM_022041.4(GAN):c.304A>G (p.Ile102Val)
|
rs779968294
|
|
NM_022041.4(GAN):c.305T>C (p.Ile102Thr)
|
rs1597401492
|
|
NM_022041.4(GAN):c.306C>G (p.Ile102Met)
|
|
|
NM_022041.4(GAN):c.313GTT[1] (p.Val106del)
|
rs1567491395
|
|
NM_022041.4(GAN):c.314T>C (p.Val105Ala)
|
rs761334418
|
|
NM_022041.4(GAN):c.322G>A (p.Ala108Thr)
|
rs771660619
|
|
NM_022041.4(GAN):c.325G>C (p.Ala109Pro)
|
rs1488932475
|
|
NM_022041.4(GAN):c.331C>T (p.Leu111=)
|
rs765503261
|
|
NM_022041.4(GAN):c.333G>A (p.Leu111=)
|
rs753122436
|
|
NM_022041.4(GAN):c.334C>T (p.Leu112=)
|
rs1567491415
|
|
NM_022041.4(GAN):c.338T>G (p.Leu113Arg)
|
rs1910417649
|
|
NM_022041.4(GAN):c.343_360del (p.Thr115_Leu120del)
|
rs1597401516
|
|
NM_022041.4(GAN):c.348C>G (p.Asp116Glu)
|
|
|
NM_022041.4(GAN):c.356C>G (p.Thr119Ser)
|
rs750608407
|
|
NM_022041.4(GAN):c.356C>T (p.Thr119Ile)
|
|
|
NM_022041.4(GAN):c.357C>T (p.Thr119=)
|
|
|
NM_022041.4(GAN):c.358C>A (p.Leu120Met)
|
rs113655220
|
|
NM_022041.4(GAN):c.362G>A (p.Cys121Tyr)
|
rs2150685581
|
|
NM_022041.4(GAN):c.371T>G (p.Phe124Cys)
|
rs1597401545
|
|
NM_022041.4(GAN):c.374T>C (p.Leu125Ser)
|
rs1555511093
|
|
NM_022041.4(GAN):c.375G>A (p.Leu125=)
|
rs1226659286
|
|
NM_022041.4(GAN):c.381C>G (p.Gly127=)
|
|
|
NM_022041.4(GAN):c.384C>A (p.Cys128Ter)
|
|
|
NM_022041.4(GAN):c.384del (p.Gly127_Cys128insTer)
|
rs1910419866
|
|
NM_022041.4(GAN):c.402T>C (p.Cys134=)
|
|
|
NM_022041.4(GAN):c.413G>A (p.Arg138His)
|
rs119485092
|
|
NM_022041.4(GAN):c.413G>T (p.Arg138Leu)
|
rs119485092
|
|
NM_022041.4(GAN):c.421G>T (p.Ala141Ser)
|
rs1057524254
|
|
NM_022041.4(GAN):c.423A>C (p.Ala141=)
|
|
|
NM_022041.4(GAN):c.426A>C (p.Leu142=)
|
rs775953461
|
|
NM_022041.4(GAN):c.427C>G (p.His143Asp)
|
rs1910421613
|
|
NM_022041.4(GAN):c.431A>G (p.Tyr144Cys)
|
rs1910421798
|
|
NM_022041.4(GAN):c.432C>G (p.Tyr144Ter)
|
rs1555511101
|
|
NM_022041.4(GAN):c.440A>G (p.His147Arg)
|
rs763438490
|
|
NM_022041.4(GAN):c.442C>G (p.His148Asp)
|
rs1910422294
|
|
NM_022041.4(GAN):c.447T>G (p.Val149=)
|
|
|
NM_022041.4(GAN):c.450T>C (p.His150=)
|
|
|
NM_022041.4(GAN):c.465A>G (p.Glu155=)
|
|
|
NM_022041.4(GAN):c.476C>T (p.Thr159Ile)
|
rs1201363054
|
|
NM_022041.4(GAN):c.478C>T (p.His160Tyr)
|
|
|
NM_022041.4(GAN):c.480T>C (p.His160=)
|
rs1440332290
|
|
NM_022041.4(GAN):c.484C>G (p.Arg162Gly)
|
|
|
NM_022041.4(GAN):c.484C>T (p.Arg162Ter)
|
rs1300267158
|
|
NM_022041.4(GAN):c.485G>A (p.Arg162Gln)
|
|
|
NM_022041.4(GAN):c.487G>C (p.Asp163His)
|
rs1910424038
|
|
NM_022041.4(GAN):c.489C>T (p.Asp163=)
|
|
|
NM_022041.4(GAN):c.497G>C (p.Ser166Thr)
|
rs758366654
|
|
NM_022041.4(GAN):c.497G>T (p.Ser166Ile)
|
|
|
NM_022041.4(GAN):c.500C>G (p.Thr167Arg)
|
|
|
NM_022041.4(GAN):c.502G>T (p.Glu168Ter)
|
rs776404697
|
|
NM_022041.4(GAN):c.505G>A (p.Glu169Lys)
|
rs119485095
|
|
NM_022041.4(GAN):c.510C>G (p.Phe170Leu)
|
rs1401068154
|
|
NM_022041.4(GAN):c.517C>G (p.Leu173Val)
|
rs1910425442
|
|
NM_022041.4(GAN):c.519G>C (p.Leu173=)
|
rs2150685694
|
|
NM_022041.4(GAN):c.521G>A (p.Ser174Asn)
|
|
|
NM_022041.4(GAN):c.523C>T (p.Pro175Ser)
|
|
|
NM_022041.4(GAN):c.530A>G (p.Lys177Arg)
|
|
|
NM_022041.4(GAN):c.531G>C (p.Lys177Asn)
|
|
|
NM_022041.4(GAN):c.538G>C (p.Glu180Gln)
|
rs768074318
|
|
NM_022041.4(GAN):c.558G>A (p.Lys186=)
|
rs1193541281
|
|
NM_022041.4(GAN):c.564C>G (p.Asn188Lys)
|
rs201884522
|
|
NM_022041.4(GAN):c.565G>T (p.Val189Phe)
|
rs766484755
|
|
NM_022041.4(GAN):c.570C>G (p.Gly190=)
|
rs993338852
|
|
NM_022041.4(GAN):c.573T>C (p.Asn191=)
|
|
|
NM_022041.4(GAN):c.575A>G (p.Glu192Gly)
|
rs1597401698
|
|
NM_022041.4(GAN):c.581A>T (p.Tyr194Phe)
|
rs1567491555
|
|
NM_022041.4(GAN):c.582T>A (p.Tyr194Ter)
|
|
|
NM_022041.4(GAN):c.583G>T (p.Val195Phe)
|
rs1432344872
|
|
NM_022041.4(GAN):c.600T>C (p.Ile200=)
|
rs1024446964
|
|
NM_022041.4(GAN):c.614A>G (p.His205Arg)
|
|
|
NM_022041.4(GAN):c.626del (p.Ile209fs)
|
|
|
NM_022041.4(GAN):c.630_633del (p.Lys211fs)
|
rs1597401735
|
|
NM_022041.4(GAN):c.633+10A>G
|
|
|
NM_022041.4(GAN):c.633+11T>C
|
|
|
NM_022041.4(GAN):c.633+1G>A
|
rs1597401738
|
|
NM_022041.4(GAN):c.633+1G>T
|
rs1597401738
|
|
NM_022041.4(GAN):c.633+2T>C
|
rs879254001
|
|
NM_022041.4(GAN):c.633+7G>A
|
|
|
NM_022041.4(GAN):c.633G>C (p.Lys211Asn)
|
rs201676105
|
|
NM_022041.4(GAN):c.634-9C>T
|
|
|
NM_022041.4(GAN):c.639C>T (p.His213=)
|
rs753515891
|
|
NM_022041.4(GAN):c.640A>G (p.Met214Val)
|
rs778132221
|
|
NM_022041.4(GAN):c.640A>T (p.Met214Leu)
|
rs778132221
|
|
NM_022041.4(GAN):c.641T>C (p.Met214Thr)
|
|
|
NM_022041.4(GAN):c.647A>T (p.Asp216Val)
|
rs1367661696
|
|
NM_022041.4(GAN):c.660T>C (p.Ala220=)
|
rs1555511259
|
|
NM_022041.4(GAN):c.675G>T (p.Gly225=)
|
rs1201072918
|
|
NM_022041.4(GAN):c.679G>T (p.Asp227Tyr)
|
rs1265208461
|
|
NM_022041.4(GAN):c.681C>G (p.Asp227Glu)
|
rs1910501900
|
|
NM_022041.4(GAN):c.683C>A (p.Ser228Tyr)
|
rs1301648787
|
|
NM_022041.4(GAN):c.687T>C (p.Ser229=)
|
|
|
NM_022041.4(GAN):c.703A>G (p.Met235Val)
|
|
|
NM_022041.4(GAN):c.705G>A (p.Met235Ile)
|
rs1910503027
|
|
NM_022041.4(GAN):c.723A>T (p.Val241=)
|
|
|
NM_022041.4(GAN):c.724C>T (p.Arg242Ter)
|
rs764816887
|
|
NM_022041.4(GAN):c.732del (p.Ile244fs)
|
rs1597402826
|
|
NM_022041.4(GAN):c.735C>G (p.Val245=)
|
|
|
NM_022041.4(GAN):c.753A>C (p.Ile251=)
|
|
|
NM_022041.4(GAN):c.756G>T (p.Pro252=)
|
rs138585506
|
|
NM_022041.4(GAN):c.759C>T (p.Leu253=)
|
rs1046641258
|
|
NM_022041.4(GAN):c.767C>A (p.Pro256Gln)
|
rs773154188
|
|
NM_022041.4(GAN):c.767C>T (p.Pro256Leu)
|
|
|
NM_022041.4(GAN):c.771G>A (p.Gln257=)
|
|
|
NM_022041.4(GAN):c.774A>G (p.Gln258=)
|
rs200071920
|
|
NM_022041.4(GAN):c.776G>C (p.Gly259Ala)
|
|
|
NM_022041.4(GAN):c.779_780del (p.Glu260fs)
|
|
|
NM_022041.4(GAN):c.783G>A (p.Ala261=)
|
rs774678754
|
|
NM_022041.4(GAN):c.783G>T (p.Ala261=)
|
rs774678754
|
|
NM_022041.4(GAN):c.794A>G (p.Asn265Ser)
|
rs982338741
|
|
NM_022041.4(GAN):c.800A>G (p.Lys267Arg)
|
rs777669948
|
|
NM_022041.4(GAN):c.803C>T (p.Pro268Leu)
|
|
|
NM_022041.4(GAN):c.804C>G (p.Pro268=)
|
|
|
NM_022041.4(GAN):c.813C>T (p.Tyr271=)
|
|
|
NM_022041.4(GAN):c.815C>G (p.Ser272Cys)
|
|
|
NM_022041.4(GAN):c.819G>A (p.Glu273=)
|
rs987754331
|
|
NM_022041.4(GAN):c.828G>A (p.Val276=)
|
|
|
NM_022041.4(GAN):c.830C>G (p.Thr277Ser)
|
|
|
NM_022041.4(GAN):c.833T>C (p.Val278Ala)
|
|
|
NM_022041.4(GAN):c.837T>C (p.Gly279=)
|
|
|
NM_022041.4(GAN):c.838G>A (p.Gly280Arg)
|
rs1270020554
|
|
NM_022041.4(GAN):c.851+119dup
|
rs111599980
|
|
NM_022041.4(GAN):c.851+15G>A
|
rs1254409580
|
|
NM_022041.4(GAN):c.851+7A>G
|
|
|
NM_022041.4(GAN):c.852-13T>C
|
rs758517277
|
|
NM_022041.4(GAN):c.852-15T>G
|
|
|
NM_022041.4(GAN):c.852-17C>T
|
|
|
NM_022041.4(GAN):c.852-1G>T
|
rs1408504352
|
|
NM_022041.4(GAN):c.852-337A>C
|
rs151118819
|
|
NM_022041.4(GAN):c.852-4T>C
|
|
|
NM_022041.4(GAN):c.852-5del
|
rs2150687565
|
|
NM_022041.4(GAN):c.852-6C>T
|
|
|
NM_022041.4(GAN):c.857G>A (p.Arg286Gln)
|
rs922025345
|
|
NM_022041.4(GAN):c.860A>G (p.Lys287Arg)
|
|
|
NM_022041.4(GAN):c.861dup (p.Pro288fs)
|
|
|
NM_022041.4(GAN):c.863C>T (p.Pro288Leu)
|
|
|
NM_022041.4(GAN):c.873G>A (p.Ala291=)
|
rs749264810
|
|
NM_022041.4(GAN):c.875T>C (p.Met292Thr)
|
|
|
NM_022041.4(GAN):c.879A>G (p.Arg293=)
|
|
|
NM_022041.4(GAN):c.882C>T (p.Cys294=)
|
|
|
NM_022041.4(GAN):c.890C>T (p.Pro297Leu)
|
rs771785420
|
|
NM_022041.4(GAN):c.891T>G (p.Pro297=)
|
|
|
NM_022041.4(GAN):c.894C>T (p.Leu298=)
|
|
|
NM_022041.4(GAN):c.896A>C (p.Tyr299Ser)
|
rs1254823893
|
|
NM_022041.4(GAN):c.902dup (p.Pro301_Asn302insTer)
|
rs2150687608
|
|
NM_022041.4(GAN):c.904A>G (p.Asn302Asp)
|
rs201937723
|
|
NM_022041.4(GAN):c.906C>T (p.Asn302=)
|
|
|
NM_022041.4(GAN):c.918G>A (p.Trp306Ter)
|
|
|
NM_022041.4(GAN):c.921C>A (p.Ile307=)
|
|
|
NM_022041.4(GAN):c.921C>T (p.Ile307=)
|
|
|
NM_022041.4(GAN):c.922G>A (p.Glu308Lys)
|
rs1192845121
|
|
NM_022041.4(GAN):c.926T>G (p.Leu309Arg)
|
rs1597403384
|
|
NM_022041.4(GAN):c.944C>G (p.Pro315Arg)
|
|
|
NM_022041.4(GAN):c.956A>G (p.His319Arg)
|
|
|
NM_022041.4(GAN):c.967T>C (p.Ser323Pro)
|
rs1910545724
|
|
NM_022041.4(GAN):c.970G>T (p.Ala324Ser)
|
rs1910545878
|
|
NM_022041.4(GAN):c.973+13G>A
|
|
|
NM_022041.4(GAN):c.973+17A>C
|
|
|
NM_022041.4(GAN):c.973+19T>G
|
rs2150687676
|
|
NM_022041.4(GAN):c.973+4C>G
|
rs189406050
|
|
NM_022041.4(GAN):c.973G>A (p.Glu325Lys)
|
rs1597403411
|
|
NM_022041.4(GAN):c.974-16C>G
|
|
|
NM_022041.4(GAN):c.974-16C>T
|
rs2150690176
|
|
NM_022041.4(GAN):c.974-186A>G
|
rs8055288
|
|
NM_022041.4(GAN):c.974-19T>A
|
|
|
NM_022041.4(GAN):c.974-2A>G
|
rs2150690183
|
|
NM_022041.4(GAN):c.974-8C>A
|
rs1463640637
|
|
NM_022041.4(GAN):c.976G>C (p.Gly326Arg)
|
rs773294836
|
|
NM_022041.4(GAN):c.982T>C (p.Leu328=)
|
|
|
NM_022041.4(GAN):c.988G>T (p.Val330Leu)
|
rs1910708136
|
|
NM_022041.4(GAN):c.990A>G (p.Val330=)
|
rs1261401081
|
|
NM_022041.4(GAN):c.993del (p.Phe331fs)
|
rs2150690197
|
|
NM_022041.4(GAN):c.994G>A (p.Gly332Arg)
|
rs1567494825
|
|
NM_022041.4(GAN):c.996G>A (p.Gly332=)
|
rs1429661395
|
|
NM_022041.4(GAN):c.998G>A (p.Gly333Asp)
|
|
|
NM_022041.4(GAN):c.998_1006del (p.Gly333_Asp335del)
|
rs1597405722
|
|