NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)
|
rs1555070980
|
0.00001
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)
|
rs777849257
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.2467-2A>C
|
rs1555082050
|
0.00001
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
0.00001
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)
|
rs1057520640
|
0.00001
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
NM_000051.4(ATM):c.72+1G>A
|
rs786204088
|
0.00001
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.1065+1G>C
|
rs201089102
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000051.4(ATM):c.1066-1G>T
|
rs876660038
|
|
NM_000051.4(ATM):c.1066-2A>C
|
rs1555069514
|
|
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter)
|
rs1555069577
|
|
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)
|
rs1185204988
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
NM_000051.4(ATM):c.1235+1G>A
|
rs1555069881
|
|
NM_000051.4(ATM):c.1236-1G>A
|
rs1408719214
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.1305del (p.Leu435fs)
|
rs1555070719
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
NM_000051.4(ATM):c.153dup (p.Gly52fs)
|
rs1555054197
|
|
NM_000051.4(ATM):c.1655del (p.Pro552fs)
|
rs1057516876
|
|
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)
|
rs1057516721
|
|
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)
|
rs1555072008
|
|
NM_000051.4(ATM):c.1754dup (p.Leu585fs)
|
rs1555072012
|
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
NM_000051.4(ATM):c.1856del (p.Asn619fs)
|
rs1057517300
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)
|
rs768362387
|
|
NM_000051.4(ATM):c.1A>C (p.Met1Leu)
|
rs730881359
|
|
NM_000051.4(ATM):c.1A>G (p.Met1Val)
|
rs730881359
|
|
NM_000051.4(ATM):c.2125-1G>A
|
rs1402299151
|
|
NM_000051.4(ATM):c.2125del (p.Ile709fs)
|
rs1057517248
|
|
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)
|
rs1057516620
|
|
NM_000051.4(ATM):c.2165dup (p.Leu722fs)
|
rs1057516393
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.2295del (p.Asn765fs)
|
rs876658583
|
|
NM_000051.4(ATM):c.2377-2A>G
|
rs1057516553
|
|
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)
|
rs1057516980
|
|
NM_000051.4(ATM):c.2542G>T (p.Glu848Ter)
|
rs879254046
|
|
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs)
|
rs1057516944
|
|
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)
|
rs786203309
|
|
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter)
|
rs1057517253
|
|
NM_000051.4(ATM):c.2880del (p.Leu961fs)
|
rs730881300
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+1G>C
|
rs587781558
|
|
NM_000051.4(ATM):c.2922-1G>T
|
rs1555084931
|
|
NM_000051.4(ATM):c.2966dup (p.Ile990fs)
|
rs1555085060
|
|
NM_000051.4(ATM):c.2999dup (p.Asn1000fs)
|
rs1057516250
|
|
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter)
|
rs1555085172
|
|
NM_000051.4(ATM):c.3068del (p.Gly1023fs)
|
rs1057516590
|
|
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)
|
rs780240314
|
|
NM_000051.4(ATM):c.3154-1G>A
|
rs1555085973
|
|
NM_000051.4(ATM):c.3231dup (p.Leu1078fs)
|
rs1057517097
|
|
NM_000051.4(ATM):c.3284+1G>A
|
rs864622129
|
|
NM_000051.4(ATM):c.3292del (p.Gln1098fs)
|
rs1555090075
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
NM_000051.4(ATM):c.3315dup (p.Arg1106fs)
|
rs1057516301
|
|
NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer)
|
rs1555090139
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)
|
rs1057516981
|
|
NM_000051.4(ATM):c.3577-1G>C
|
rs1057517226
|
|
NM_000051.4(ATM):c.3603del (p.Phe1201fs)
|
rs1057517129
|
|
NM_000051.4(ATM):c.3747-2A>G
|
rs1057517213
|
|
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)
|
rs886039637
|
|
NM_000051.4(ATM):c.378del (p.Asp126fs)
|
rs587781449
|
|
NM_000051.4(ATM):c.3880dup (p.Ile1294fs)
|
rs1057516541
|
|
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)
|
rs876659672
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
NM_000051.4(ATM):c.3990del (p.Lys1330fs)
|
rs1057517100
|
|
NM_000051.4(ATM):c.3993+1G>T
|
rs200196781
|
|
NM_000051.4(ATM):c.3994-1G>T
|
rs1057516238
|
|
NM_000051.4(ATM):c.4007del (p.Phe1336fs)
|
rs1555095841
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer)
|
rs1555096057
|
|
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)
|
rs876658248
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
NM_000051.4(ATM):c.4236+1G>T
|
rs876660674
|
|
NM_000051.4(ATM):c.4246C>T (p.Gln1416Ter)
|
rs1057516311
|
|
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)
|
rs1060501551
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)
|
rs373226793
|
|
NM_000051.4(ATM):c.4436+1G>T
|
rs1555097894
|
|
NM_000051.4(ATM):c.4451del (p.Met1484fs)
|
rs1555099760
|
|
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)
|
rs864622479
|
|
NM_000051.4(ATM):c.4612-1G>A
|
rs1555100351
|
|
NM_000051.4(ATM):c.4612-2A>C
|
rs1555100347
|
|
NM_000051.4(ATM):c.4664del (p.Leu1555fs)
|
rs876659039
|
|
NM_000051.4(ATM):c.4695del (p.Pro1566fs)
|
rs1057517452
|
|
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)
|
rs746499337
|
|
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000051.4(ATM):c.495_496+16del
|
rs1555059522
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer)
|
rs1057516358
|
|
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)
|
rs786201693
|
|
NM_000051.4(ATM):c.5178-1G>A
|
rs1555105579
|
|
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)
|
rs1555105786
|
|
NM_000051.4(ATM):c.5319+1G>T
|
rs876660175
|
|
NM_000051.4(ATM):c.5320-4_5323del
|
rs1057516540
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
NM_000051.4(ATM):c.5351del (p.Asn1784fs)
|
rs1057517101
|
|
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)
|
rs879254171
|
|
NM_000051.4(ATM):c.5433T>A (p.Cys1811Ter)
|
rs1555106493
|
|
NM_000051.4(ATM):c.5460dup (p.Cys1821fs)
|
rs1057516760
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)
|
rs786204751
|
|
NM_000051.4(ATM):c.5549del (p.Leu1850fs)
|
rs876658287
|
|
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)
|
rs879254076
|
|
NM_000051.4(ATM):c.5712del (p.Lys1904fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5762+1G>T
|
rs869312756
|
|
NM_000051.4(ATM):c.588del (p.Gly197fs)
|
rs1057516683
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.663-2A>G
|
rs886041931
|
|
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)
|
rs1555066917
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)
|
rs864622163
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
NM_000051.4(ATM):c.877A>T (p.Lys293Ter)
|
rs1057516442
|
|