ClinVar Miner

List of variants in gene ATM reported as pathogenic by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 652
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1236-2A>T rs80159221 0.00008
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164 0.00004
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.4(ATM):c.538C>T (p.Gln180Ter) rs730881333 0.00003
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter) rs747563556 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter) rs876660485 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter) rs879254093 0.00001
NM_000051.4(ATM):c.1547T>G (p.Leu516Ter) rs786202195 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610 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.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3078-1G>A rs750663117 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687 0.00001
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 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.4198A>T (p.Lys1400Ter) rs587781950 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.4909+1G>A rs756987454 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5203dup (p.Thr1735fs) rs878853518 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs) rs1214541502 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 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.902-1G>T rs1064793518 0.00001
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3:c.919_920insALU
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.4(ATM):c.1017del (p.Ile339fs) rs1469427343
NM_000051.4(ATM):c.1027G>T (p.Glu343Ter)
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1039G>T (p.Glu347Ter)
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1045_1052del (p.Met349fs) rs1565375817
NM_000051.4(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.4(ATM):c.1056_1057del (p.Ile352fs) rs1591511511
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs) rs1555068609
NM_000051.4(ATM):c.1063C>T (p.Gln355Ter) rs1555068615
NM_000051.4(ATM):c.1073dup (p.Asn358fs) rs1591517182
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer) rs1591517456
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs) rs1591517571
NM_000051.4(ATM):c.1126G>T (p.Glu376Ter) rs1555069657
NM_000051.4(ATM):c.1141dup (p.Ser381fs)
NM_000051.4(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter) rs876660106
NM_000051.4(ATM):c.1178G>A (p.Trp393Ter) rs1025339570
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.119_122del (p.Ile40fs) rs876659116
NM_000051.4(ATM):c.1201C>T (p.Gln401Ter)
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer) rs1060501609
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1224dup (p.Leu409fs)
NM_000051.4(ATM):c.1228_1229insCGCCT (p.Val410fs)
NM_000051.4(ATM):c.1231_1235dup (p.Trp412fs) rs1591518293
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1236-3_1236-2del rs587782572
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.4(ATM):c.1249del (p.Thr417fs) rs786203166
NM_000051.4(ATM):c.1262C>G (p.Ser421Ter) rs2135316531
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter) rs1555070678
NM_000051.4(ATM):c.1274_1277del (p.Ala425fs) rs1591523010
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.1321C>T (p.Gln441Ter) rs1565382267
NM_000051.4(ATM):c.1329del (p.Gln445fs) rs587782844
NM_000051.4(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.4(ATM):c.1336C>T (p.Gln446Ter) rs587782121
NM_000051.4(ATM):c.1348del (p.Glu450fs) rs758004668
NM_000051.4(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.1358dup (p.Tyr454fs) rs1555070805
NM_000051.4(ATM):c.135dup (p.His46fs) rs1591447147
NM_000051.4(ATM):c.1381G>T (p.Glu461Ter)
NM_000051.4(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.4(ATM):c.1394_1395del (p.Cys465fs) rs876659866
NM_000051.4(ATM):c.1401dup (p.Lys468fs)
NM_000051.4(ATM):c.140C>G (p.Ser47Ter) rs774185390
NM_000051.4(ATM):c.1420_1423delinsTCTGAC (p.Ser475fs) rs2080105212
NM_000051.4(ATM):c.1424C>G (p.Ser475Ter) rs786203550
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.4(ATM):c.1439_1448del (p.Leu480fs) rs876658651
NM_000051.4(ATM):c.1446del (p.Lys482fs) rs1060501670
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.1464del (p.Trp488fs) rs1555070994
NM_000051.4(ATM):c.1467dup (p.Ile490fs) rs1555071002
NM_000051.4(ATM):c.1476dup (p.Arg493fs) rs1565383194
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.4(ATM):c.14_21del (p.Leu5fs)
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.4(ATM):c.1512del (p.Phe505fs) rs1555071103
NM_000051.4(ATM):c.151C>T (p.Gln51Ter) rs786203888
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter) rs2135325561
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.1537C>T (p.Gln513Ter) rs865985297
NM_000051.4(ATM):c.1537del (p.Gln513fs) rs1591524613
NM_000051.4(ATM):c.154G>T (p.Gly52Ter) rs730881362
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter) rs1565383766
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.4(ATM):c.1595delinsTA (p.Cys532fs)
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs) rs1131691166
NM_000051.4(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.4(ATM):c.1619_1620delinsAA (p.Cys540Ter)
NM_000051.4(ATM):c.1625del (p.Cys541_Leu542insTer) rs2080164484
NM_000051.4(ATM):c.1643_1656del (p.Thr548fs) rs1591527327
NM_000051.4(ATM):c.1644del (p.Ser549fs) rs1591527355
NM_000051.4(ATM):c.1660del (p.Thr554fs) rs876658572
NM_000051.4(ATM):c.1672G>T (p.Gly558Ter)
NM_000051.4(ATM):c.1689del (p.Met563fs)
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter) rs886039644
NM_000051.4(ATM):c.1702del (p.Arg568fs)
NM_000051.4(ATM):c.171G>A (p.Trp57Ter)
NM_000051.4(ATM):c.1724C>A (p.Ser575Ter) rs2135342200
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter) rs786201689
NM_000051.4(ATM):c.1740_1741del (p.Leu581fs) rs1131691151
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.4(ATM):c.1768G>T (p.Glu590Ter) rs876659283
NM_000051.4(ATM):c.1780_1781del (p.Glu594fs)
NM_000051.4(ATM):c.1811del (p.Pro604fs)
NM_000051.4(ATM):c.1838_1839del (p.Val613fs) rs1591530854
NM_000051.4(ATM):c.1838dup (p.Ser614fs) rs1555072492
NM_000051.4(ATM):c.1847dup (p.Met617fs) rs1591530991
NM_000051.4(ATM):c.1858del (p.Cys620fs) rs1565387848
NM_000051.4(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)
NM_000051.4(ATM):c.1898+1G>T rs758325274
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.1899-2A>C
NM_000051.4(ATM):c.1904_1905del (p.His635fs)
NM_000051.4(ATM):c.1906del (p.His636fs)
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer) rs864622415
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1937C>G (p.Ser646Ter) rs1591534005
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter) rs1060501599
NM_000051.4(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.4(ATM):c.1960C>T (p.Gln654Ter) rs528165789
NM_000051.4(ATM):c.1976del (p.Lys659fs)
NM_000051.4(ATM):c.1978dup (p.Met660fs) rs1555073243
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.2018dup (p.His674fs)
NM_000051.4(ATM):c.2025del (p.Gln675fs)
NM_000051.4(ATM):c.202_203del (p.Ile68fs)
NM_000051.4(ATM):c.2050C>T (p.Gln684Ter) rs1060501691
NM_000051.4(ATM):c.205C>T (p.Gln69Ter) rs876660631
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter) rs1591534936
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2113del (p.Tyr705fs) rs863224822
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter) rs876659149
NM_000051.4(ATM):c.2119_2123del (p.Ser707fs) rs1555073529
NM_000051.4(ATM):c.211G>T (p.Glu71Ter)
NM_000051.4(ATM):c.2129del (p.Thr710fs) rs786203807
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter) rs1057516620
NM_000051.4(ATM):c.2140del (p.Thr714fs) rs2080473458
NM_000051.4(ATM):c.2155_2174del (p.Ser719fs)
NM_000051.4(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.4(ATM):c.217_218del (p.Glu73fs) rs762089971
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter) rs2229019
NM_000051.4(ATM):c.2195dup (p.Met732fs) rs1555074971
NM_000051.4(ATM):c.2198_2199insC (p.Val734fs)
NM_000051.4(ATM):c.2200del (p.Gly733_Val734insTer)
NM_000051.4(ATM):c.2223T>A (p.Tyr741Ter) rs1057524111
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter) rs1057524111
NM_000051.4(ATM):c.2230G>T (p.Glu744Ter)
NM_000051.4(ATM):c.2239del (p.Gln747fs)
NM_000051.4(ATM):c.2254_2255del (p.Leu752fs)
NM_000051.4(ATM):c.2260C>T (p.Gln754Ter)
NM_000051.4(ATM):c.2272G>T (p.Glu758Ter) rs1555075658
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2286_2287del (p.Leu762_Phe763insTer) rs1064795831
NM_000051.4(ATM):c.2289del (p.Phe763fs)
NM_000051.4(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.4(ATM):c.2316_2317del (p.Arg772fs)
NM_000051.4(ATM):c.2345dup (p.Cys783fs) rs1591546645
NM_000051.4(ATM):c.2371del (p.Thr791fs)
NM_000051.4(ATM):c.2376+1G>T rs730881347
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
NM_000051.4(ATM):c.2428A>T (p.Lys810Ter)
NM_000051.4(ATM):c.2429dup (p.Leu811fs)
NM_000051.4(ATM):c.242dup (p.Asn81fs) rs1591451795
NM_000051.4(ATM):c.2462del (p.Ser821fs) rs2080701610
NM_000051.4(ATM):c.2464_2466+2del rs2135422352
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter) rs1442299125
NM_000051.4(ATM):c.2465T>G (p.Leu822Ter) rs1442299125
NM_000051.4(ATM):c.2466+1del rs786202783
NM_000051.4(ATM):c.2475dup (p.Ile826fs) rs1591587103
NM_000051.4(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.4(ATM):c.248_249delinsT (p.Ser83fs)
NM_000051.4(ATM):c.2494dup (p.Arg832fs) rs1131691165
NM_000051.4(ATM):c.2497G>T (p.Gly833Ter) rs876658804
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter) rs876660430
NM_000051.4(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.4(ATM):c.2508dup (p.Ser837fs) rs770396940
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter) rs2081303434
NM_000051.4(ATM):c.2521del (p.Asp841fs) rs1175457710
NM_000051.4(ATM):c.2524dup (p.Thr842fs) rs1555082160
NM_000051.4(ATM):c.2534del (p.Asn845fs) rs1591587673
NM_000051.4(ATM):c.2539_2543del (p.Met847fs)
NM_000051.4(ATM):c.2548G>T (p.Glu850Ter) rs587782280
NM_000051.4(ATM):c.2548del (p.Glu850fs)
NM_000051.4(ATM):c.2566_2569dup (p.Leu857fs) rs2135507893
NM_000051.4(ATM):c.2572_2574delinsA (p.Phe858fs)
NM_000051.4(ATM):c.2572_2575del (p.Phe858fs) rs1131691148
NM_000051.4(ATM):c.2574dup (p.Asn859Ter) rs587778068
NM_000051.4(ATM):c.2613dup (p.Pro872fs) rs1591588646
NM_000051.4(ATM):c.2624del (p.Ser875fs) rs1555082344
NM_000051.4(ATM):c.2639-19_2639-7del rs1591593439
NM_000051.4(ATM):c.2639-22_2639-20del rs1064795554
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter) rs876660780
NM_000051.4(ATM):c.2677C>T (p.Gln893Ter) rs1555083131
NM_000051.4(ATM):c.2693T>G (p.Leu898Ter) rs770610463
NM_000051.4(ATM):c.2715T>A (p.Cys905Ter)
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer) rs786202695
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.4(ATM):c.2734C>T (p.Gln912Ter) rs764409952
NM_000051.4(ATM):c.2749dup (p.Ser917fs) rs1555083315
NM_000051.4(ATM):c.2754del (p.Phe918fs) rs786202608
NM_000051.4(ATM):c.2778_2779del (p.Lys926fs)
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.4(ATM):c.27delinsCC (p.Ile10fs)
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2817del (p.Lys940fs) rs1555083435
NM_000051.4(ATM):c.2832delinsTT (p.His945fs)
NM_000051.4(ATM):c.2838+1G>A rs1555083469
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2867del (p.Gly956fs) rs2135547839
NM_000051.4(ATM):c.2869G>T (p.Glu957Ter)
NM_000051.4(ATM):c.286G>T (p.Glu96Ter) rs1591452100
NM_000051.4(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.4(ATM):c.2882del (p.Leu961fs) rs587781805
NM_000051.4(ATM):c.289del (p.Ile97fs) rs878853497
NM_000051.4(ATM):c.2902G>T (p.Glu968Ter) rs1555084723
NM_000051.4(ATM):c.2912_2916del (p.Lys971fs) rs587781656
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.2938del (p.Tyr980fs) rs1565425118
NM_000051.4(ATM):c.2965del (p.Thr989fs) rs786203539
NM_000051.4(ATM):c.2966dup (p.Ile990fs) rs1555085060
NM_000051.4(ATM):c.3024_3025insTT (p.Glu1009fs) rs1555085172
NM_000051.4(ATM):c.3025G>T (p.Glu1009Ter) rs1064794039
NM_000051.4(ATM):c.3028_3029del (p.Asn1010fs) rs1591604513
NM_000051.4(ATM):c.3034dup (p.Arg1012fs) rs2135554107
NM_000051.4(ATM):c.3038dup (p.Asp1013fs) rs1131691163
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter) rs1555085210
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3058dup (p.Thr1020fs)
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter) rs587782103
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3097A>T (p.Lys1033Ter) rs1591608334
NM_000051.4(ATM):c.3125del (p.Leu1042fs)
NM_000051.4(ATM):c.3145_3146del (p.Leu1049fs) rs1565427961
NM_000051.4(ATM):c.3169A>T (p.Lys1057Ter)
NM_000051.4(ATM):c.3171dup (p.Trp1058fs) rs2135570105
NM_000051.4(ATM):c.318del (p.Lys106fs) rs1591452378
NM_000051.4(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.4(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.4(ATM):c.321T>A (p.Cys107Ter)
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs) rs1060501587
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3247_3260del (p.His1083fs)
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs) rs876658402
NM_000051.4(ATM):c.3263del (p.Leu1088fs)
NM_000051.4(ATM):c.3279_3280insT (p.Asn1094Ter) rs1131691155
NM_000051.4(ATM):c.3279_3282del (p.Asn1094fs) rs879254281
NM_000051.4(ATM):c.3281del (p.Asn1094fs) rs776516754
NM_000051.4(ATM):c.3285-2308_3994-1478dup
NM_000051.4(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.4(ATM):c.3296_3318del (p.Asp1099fs)
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter) rs147557621
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3318del (p.Arg1106fs)
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.4(ATM):c.3335dup (p.Leu1113fs) rs876660031
NM_000051.4(ATM):c.3340A>T (p.Lys1114Ter) rs1049900772
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter) rs2135644009
NM_000051.4(ATM):c.3348del (p.Gln1116fs)
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter) rs786201957
NM_000051.4(ATM):c.3349_3355delinsTAAACAT (p.Gln1117_Ala1119delinsTer) rs1064796055
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.4(ATM):c.3369del (p.Tyr1124fs) rs587781752
NM_000051.4(ATM):c.3370del (p.Tyr1124fs)
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3387del (p.Gly1130fs) rs1591632498
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter) rs587781911
NM_000051.4(ATM):c.3391del (p.Gly1130_Met1131insTer)
NM_000051.4(ATM):c.3404_3428delinsTTGAATGAAAT (p.Ser1135_Thr1143delinsPheGluTer) rs1591636185
NM_000051.4(ATM):c.3419del (p.Asn1140fs) rs1555091141
NM_000051.4(ATM):c.3430_3431del (p.Leu1144fs) rs1555091158
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3436G>T (p.Glu1146Ter) rs1565441511
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs) rs1060501676
NM_000051.4(ATM):c.3451A>T (p.Lys1151Ter) rs1555091196
NM_000051.4(ATM):c.3453dup (p.Ser1152fs) rs2135666539
NM_000051.4(ATM):c.3470T>A (p.Leu1157Ter)
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer) rs1555091238
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter) rs876659067
NM_000051.4(ATM):c.3514del (p.Ala1172fs)
NM_000051.4(ATM):c.3518del (p.Leu1173fs) rs1591636817
NM_000051.4(ATM):c.3526del (p.Leu1176fs) rs730881302
NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter) rs1555091359
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer) rs1555091370
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs) rs1555091367
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3546_3547del (p.Asn1183fs) rs768356403
NM_000051.4(ATM):c.3560del (p.Pro1187fs)
NM_000051.4(ATM):c.3577-9_3583del rs1555092219
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer) rs1555092297
NM_000051.4(ATM):c.3617T>A (p.Leu1206Ter)
NM_000051.4(ATM):c.3617_3621delinsG (p.Leu1206fs) rs876660783
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.362T>A (p.Leu121Ter) rs771342315
NM_000051.4(ATM):c.3646del (p.Tyr1216fs)
NM_000051.4(ATM):c.3648T>G (p.Tyr1216Ter) rs1591641318
NM_000051.4(ATM):c.3656del (p.Leu1219fs)
NM_000051.4(ATM):c.3662G>A (p.Trp1221Ter) rs2135689111
NM_000051.4(ATM):c.3669_3670insTAG (p.Leu1224Ter) rs2082301397
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter) rs1555092430
NM_000051.4(ATM):c.3681_3687del (p.Glu1228fs) rs1591641462
NM_000051.4(ATM):c.3687C>A (p.Tyr1229Ter) rs2082303743
NM_000051.4(ATM):c.368del (p.Tyr123fs) rs730881296
NM_000051.4(ATM):c.3693_3697del (p.Leu1231fs) rs1555092477
NM_000051.4(ATM):c.3704_3708del (p.Pro1235fs) rs2135690451
NM_000051.4(ATM):c.3704del (p.Pro1235fs) rs876658455
NM_000051.4(ATM):c.370_374del (p.Ile124fs) rs2079237399
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3716T>G (p.Leu1239Ter)
NM_000051.4(ATM):c.3745A>T (p.Arg1249Ter)
NM_000051.4(ATM):c.3747-1G>T
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_000051.4(ATM):c.3755dup (p.Tyr1252Ter) rs1591645340
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs) rs1555093289
NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs) rs2135704536
NM_000051.4(ATM):c.3760del (p.Val1254fs) rs786203507
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter) rs2082374257
NM_000051.4(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.4(ATM):c.376_382del (p.Met125_Asp126insTer) rs1591474736
NM_000051.4(ATM):c.3780dup (p.Ile1261fs) rs786202694
NM_000051.4(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3813del (p.Ile1271fs)
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer) rs2135122447
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter) rs587779836
NM_000051.4(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.4(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter) rs1131691160
NM_000051.4(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.387dup (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.4(ATM):c.3895del (p.Ala1299fs) rs786203501
NM_000051.4(ATM):c.3907_3925del (p.Thr1303fs)
NM_000051.4(ATM):c.3925_3926insATGA (p.Ala1309fs)
NM_000051.4(ATM):c.392C>A (p.Ser131Ter) rs1363726955
NM_000051.4(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.4(ATM):c.3931C>T (p.Gln1311Ter) rs200976093
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.4(ATM):c.3952del (p.Val1318fs) rs1591646354
NM_000051.4(ATM):c.3961dup (p.Met1321fs) rs1591646429
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.4(ATM):c.3983del (p.Leu1328fs)
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter) rs2082389962
NM_000051.4(ATM):c.3993+1G>T rs200196781
NM_000051.4(ATM):c.3994del (p.Ile1332fs)
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.4036G>T (p.Glu1346Ter) rs1060501528
NM_000051.4(ATM):c.4038del (p.Glu1346fs)
NM_000051.4(ATM):c.4052del (p.Leu1351fs) rs786202350
NM_000051.4(ATM):c.4056_4065del (p.His1352fs) rs1555095955
NM_000051.4(ATM):c.4057G>T (p.Glu1353Ter)
NM_000051.4(ATM):c.4084_4085del (p.Ser1362fs) rs886039488
NM_000051.4(ATM):c.4093del (p.Leu1365fs) rs2135737651
NM_000051.4(ATM):c.4095_4096dup (p.Cys1366fs) rs1555096057
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.4110-9C>G rs730881367
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter) rs756160533
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)
NM_000051.4(ATM):c.4189dup (p.His1397fs) rs2082644891
NM_000051.4(ATM):c.4203_4206delinsTTTTAAATGCTTTTT (p.Leu1401fs) rs1591660745
NM_000051.4(ATM):c.4225del (p.Ser1409fs) rs2082647388
NM_000051.4(ATM):c.4227del (p.Ser1411fs) rs587782054
NM_000051.4(ATM):c.4249A>T (p.Lys1417Ter) rs1591662598
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs) rs1591662606
NM_000051.4(ATM):c.4267del (p.Cys1423fs)
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.4(ATM):c.4335_4338del (p.Phe1445fs) rs2135762355
NM_000051.4(ATM):c.4335dup (p.Val1446fs) rs1555097571
NM_000051.4(ATM):c.4339_4342del (p.Ser1447fs) rs1591663236
NM_000051.4(ATM):c.4343T>A (p.Leu1448Ter) rs1591663285
NM_000051.4(ATM):c.4343T>G (p.Leu1448Ter) rs1591663285
NM_000051.4(ATM):c.4343_4344delinsGTT (p.Leu1448fs) rs1565456465
NM_000051.4(ATM):c.4348del (p.Leu1449_Leu1450insTer)
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4359_4363del (p.Ile1453fs) rs587782863
NM_000051.4(ATM):c.4363del (p.Ser1455fs) rs1591663478
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro) rs749770110
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer) rs771887195
NM_000051.4(ATM):c.440_441del (p.Lys147fs)
NM_000051.4(ATM):c.441dup (p.Asp148fs) rs1427164968
NM_000051.4(ATM):c.442dup (p.Asp148fs) rs1555059380
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.4(ATM):c.4450_4451del (p.Met1484fs) rs1565460896
NM_000051.4(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.4(ATM):c.4453_4456del (p.Asp1485fs)
NM_000051.4(ATM):c.4460C>G (p.Ser1487Ter) rs1591673803
NM_000051.4(ATM):c.4493_4497del (p.Leu1498fs)
NM_000051.4(ATM):c.4498C>T (p.Gln1500Ter)
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer) rs771936821
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter) rs1555099892
NM_000051.4(ATM):c.452_453del (p.Ser151fs)
NM_000051.4(ATM):c.454del (p.Ser151_Val152insTer) rs1555059421
NM_000051.4(ATM):c.4563_4565delinsCA (p.Gly1522fs)
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs) rs1591674707
NM_000051.4(ATM):c.4584dup (p.Tyr1529fs)
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter) rs2082872908
NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter) rs1555100037
NM_000051.4(ATM):c.4625dup (p.Leu1542fs) rs730881304
NM_000051.4(ATM):c.462del (p.Lys154fs)
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs) rs876659535
NM_000051.4(ATM):c.4660_4661insTTTTTATT (p.Asn1554fs)
NM_000051.4(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.4(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter) rs766438805
NM_000051.4(ATM):c.4683_4689del (p.Asp1563fs) rs886039515
NM_000051.4(ATM):c.468G>A (p.Trp156Ter) rs1591475457
NM_000051.4(ATM):c.4691del (p.Pro1564fs)
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.4741_4742delinsG (p.Ile1581fs)
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.475del (p.Ile159fs) rs1555059464
NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter) rs876658587
NM_000051.4(ATM):c.4776+1G>A
NM_000051.4(ATM):c.4776+1G>C
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4776+2_4776+13del rs762838462
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4796C>G (p.Ser1599Ter) rs1591684337
NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs) rs1060501659
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.4820del (p.Pro1607fs) rs2135834949
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs) rs753011366
NM_000051.4(ATM):c.4844del (p.Lys1615fs) rs1555101791
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.487C>T (p.Gln163Ter) rs1591475608
NM_000051.4(ATM):c.4885dup (p.Val1629fs) rs1555101915
NM_000051.4(ATM):c.4897A>T (p.Arg1633Ter)
NM_000051.4(ATM):c.4900_4904del (p.Ala1634fs) rs1591685276
NM_000051.4(ATM):c.490_496del (p.Trp164fs)
NM_000051.4(ATM):c.4938del (p.Lys1646fs) rs587781754
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.497-2661A>G rs1591491477
NM_000051.4(ATM):c.4972del (p.Ala1658fs)
NM_000051.4(ATM):c.4975_4982dup (p.His1661delinsGlnTer)
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter) rs1555103301
NM_000051.4(ATM):c.5015del (p.Gly1672fs) rs864622662
NM_000051.4(ATM):c.504del (p.Ser169fs)
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter) rs1555104609
NM_000051.4(ATM):c.5093dup (p.Ala1699fs)
NM_000051.4(ATM):c.5098del (p.Lys1701fs) rs1555104689
NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs) rs1555104693
NM_000051.4(ATM):c.510_511del (p.Tyr171fs) rs1591499665
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs) rs1591702700
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.5150dup (p.Tyr1717Ter) rs1591702911
NM_000051.4(ATM):c.5156del (p.Asn1719fs) rs1591702951
NM_000051.4(ATM):c.516_517delinsG (p.Phe172fs)
NM_000051.4(ATM):c.5177+1G>A rs1131691159
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5184dup (p.Val1729fs) rs1555105588
NM_000051.4(ATM):c.5185del (p.Val1729fs) rs1555105610
NM_000051.4(ATM):c.5210_5212delinsGT (p.Leu1737fs) rs1591708568
NM_000051.4(ATM):c.5231dup (p.Thr1745fs)
NM_000051.4(ATM):c.525T>A (p.Tyr175Ter)
NM_000051.4(ATM):c.525T>G (p.Tyr175Ter) rs1363186839
NM_000051.4(ATM):c.5265_5274del (p.Met1755fs)
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.4(ATM):c.5297del (p.Pro1766fs)
NM_000051.4(ATM):c.5301del (p.Phe1767fs)
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5318del (p.Lys1773fs) rs876660289
NM_000051.4(ATM):c.5318dup (p.Phe1774fs) rs876660289
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.531dup (p.Pro178fs)
NM_000051.4(ATM):c.5320-5_5320-2del rs730881310
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5340del (p.Phe1780fs)
NM_000051.4(ATM):c.5346dup (p.Glu1783fs) rs2135927478
NM_000051.4(ATM):c.5347_5351del (p.Glu1783fs)
NM_000051.4(ATM):c.5365del (p.Leu1789fs)
NM_000051.4(ATM):c.5396del (p.Ser1799fs) rs587782812
NM_000051.4(ATM):c.5402dup (p.Asn1801fs) rs1555106438
NM_000051.4(ATM):c.5405dup (p.His1802fs) rs1555106452
NM_000051.4(ATM):c.540del (p.Asp181fs) rs1565369355
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer) rs879254041
NM_000051.4(ATM):c.5431_5432insTATCCAAATCATGACATTTGGATAAAGACACTGACTT (p.Cys1811delinsLeuSerLysSerTer)
NM_000051.4(ATM):c.5441dup (p.Leu1814fs) rs1555106508
NM_000051.4(ATM):c.5443_5474dup (p.Leu1826fs) rs1591712726
NM_000051.4(ATM):c.5450dup (p.Gly1818fs)
NM_000051.4(ATM):c.546dup (p.His183fs)
NM_000051.4(ATM):c.5475dup (p.Leu1826fs)
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5497-2A>G rs786203796
NM_000051.4(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.4(ATM):c.5503del (p.Thr1835fs) rs1591717467
NM_000051.4(ATM):c.5505del (p.Asp1836fs)
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.5524dup (p.Leu1842fs)
NM_000051.4(ATM):c.5538dup (p.His1847fs) rs2135943275
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.5554del (p.Gln1852fs)
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.557dup (p.Leu186fs) rs1591500005
NM_000051.4(ATM):c.5594_5595del (p.His1865fs) rs1555107450
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs) rs1064793031
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.564del (p.Arg189fs) rs876658754
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5679_5691del (p.Glu1894fs)
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs) rs1060501580
NM_000051.4(ATM):c.5690del (p.Phe1897fs) rs1591731851
NM_000051.4(ATM):c.5690dup (p.Arg1898fs)
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter) rs753839301
NM_000051.4(ATM):c.5712del (p.Lys1904fs) rs587781730
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter) rs2135976898
NM_000051.4(ATM):c.5718_5719del (p.Arg1907fs) rs1555109102
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs) rs1591732123
NM_000051.4(ATM):c.5745del (p.Asp1914_Tyr1915insTer) rs1555109147
NM_000051.4(ATM):c.5761A>T (p.Arg1921Ter)
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.583del (p.Thr195fs) rs1591500220
NM_000051.4(ATM):c.597T>A (p.Cys199Ter) rs1565369633
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer) rs876658548
NM_000051.4(ATM):c.635_636insG (p.Phe212fs)
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.640dup (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.642del (p.Lys215fs) rs876660315
NM_000051.4(ATM):c.652C>T (p.Gln218Ter) rs1555066551
NM_000051.4(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.4(ATM):c.680C>G (p.Ser227Ter) rs762998620
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.695_699del (p.Ile232fs)
NM_000051.4(ATM):c.704del (p.Ala235fs) rs1591503565
NM_000051.4(ATM):c.708del (p.Thr237fs) rs1555067034
NM_000051.4(ATM):c.709dup (p.Thr237fs) rs2079758064
NM_000051.4(ATM):c.710del (p.Thr237fs) rs1060501642
NM_000051.4(ATM):c.717_720del (p.Phe239fs) rs587782660
NM_000051.4(ATM):c.71del (p.Lys24fs)
NM_000051.4(ATM):c.72+2T>C rs1591446206
NM_000051.4(ATM):c.728dup (p.Leu243fs) rs2135238938
NM_000051.4(ATM):c.729_741del (p.Leu243fs) rs2079760023
NM_000051.4(ATM):c.741dup (p.Arg248fs) rs1131691161
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.753del (p.Cys252fs) rs2135239839
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.816_829dup (p.Glu277delinsValIleLeuTer)
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.4(ATM):c.828del (p.Glu277fs)
NM_000051.4(ATM):c.850C>T (p.Gln284Ter) rs757782702
NM_000051.4(ATM):c.855del (p.Gln286fs) rs1555067251
NM_000051.4(ATM):c.856C>T (p.Gln286Ter) rs2135242925
NM_000051.4(ATM):c.871del (p.His291fs)
NM_000051.4(ATM):c.889del (p.Thr297fs)
NM_000051.4(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.4(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.901+1G>C rs748840480
NM_000051.4(ATM):c.901+1G>T rs748840480
NM_000051.4(ATM):c.901+2T>C rs1218815157
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.901G>C (p.Gly301Arg) rs1064797160
NM_000051.4(ATM):c.914C>G (p.Ser305Ter)
NM_000051.4(ATM):c.919A>T (p.Lys307Ter)
NM_000051.4(ATM):c.923G>A (p.Trp308Ter) rs1591510553
NM_000051.4(ATM):c.929del (p.Ser310fs) rs1591510597
NM_000051.4(ATM):c.95del (p.Arg32fs)
NM_000051.4(ATM):c.964_968del (p.Glu322fs) rs1555068404
NM_000051.4(ATM):c.970dup (p.Ser324fs)
NM_000051.4(ATM):c.972_979del (p.Ser324fs) rs2135266573
NM_000051.4(ATM):c.977_978del (p.Ile326fs) rs876658832
NM_000051.4(ATM):c.992del (p.Lys331fs) rs1060501684
NM_000051.4(ATM):c.992dup (p.Tyr332fs)

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