ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as likely pathogenic

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 501
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys) rs531980488 0.00011
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln) rs587782202 0.00003
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys) rs755009196 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000051.4(ATM):c.5763-1056G>A rs1325461375 0.00001
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter) rs876658740 0.00001
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val) rs730881394 0.00001
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415 0.00001
NM_000051.4(ATM):c.6095+1G>A rs587781584 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6347+1G>A rs1057517120 0.00001
NM_000051.4(ATM):c.6573-2A>C rs751168951 0.00001
NM_000051.4(ATM):c.6573-2A>G rs751168951 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000051.4(ATM):c.6975+5G>T rs575354684 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162 0.00001
NM_000051.4(ATM):c.7157C>A (p.Ala2386Glu) rs786203697 0.00001
NM_000051.4(ATM):c.7307+3_7307+4insGTTC rs587782288 0.00001
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln) rs587782310 0.00001
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu) rs1324075885 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg) rs587782692 0.00001
NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro) rs769142993 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys) rs767670019 0.00001
NM_000051.4(ATM):c.7914G>T (p.Trp2638Cys) rs758843096 0.00001
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile) rs1315805984 0.00001
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala) rs745775382 0.00001
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn) rs730881384 0.00001
NM_000051.4(ATM):c.8010G>A (p.Lys2670=) rs1013244700 0.00001
NM_000051.4(ATM):c.8045C>G (p.Thr2682Ser) rs1175177178 0.00001
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg) rs876659735 0.00001
NM_000051.4(ATM):c.8213T>G (p.Leu2738Ter) rs773889320 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser) rs748634900 0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) rs778269655 0.00001
NM_000051.4(ATM):c.8479T>A (p.Phe2827Ile) rs370152402 0.00001
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu) rs938431501 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter) rs587781597 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) rs587782202 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000051.4(ATM):c.8584+2T>C rs730881326 0.00001
NM_000051.4(ATM):c.8615_8616del (p.His2872fs) rs1232259438 0.00001
NM_000051.4(ATM):c.8786+1G>T rs17174393 0.00001
NM_000051.4(ATM):c.8805G>A (p.Met2935Ile) rs772621438 0.00001
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs) rs758814126 0.00001
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter) rs587781698 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NC_000011.10:g.(?_108327645)_(108331557_?)del
NM_000051.4(ATM):c.5129_5763-1060del
NM_000051.4(ATM):c.5763-18_5772del
NM_000051.4(ATM):c.5763-1G>A rs2136011029
NM_000051.4(ATM):c.5763-2A>G rs876659489
NM_000051.4(ATM):c.5763-2A>T rs876659489
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.4(ATM):c.5866_5870del (p.Leu1956fs)
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly) rs1555110484
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs) rs1555110517
NM_000051.4(ATM):c.5896del (p.Ser1966fs)
NM_000051.4(ATM):c.5896dup (p.Ser1966fs) rs1555110514
NM_000051.4(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.4(ATM):c.5918+1G>A rs1591746871
NM_000051.4(ATM):c.5918+1G>T rs1591746871
NM_000051.4(ATM):c.5918+2T>A
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys) rs1555110591
NM_000051.4(ATM):c.5919-1del rs2084240759
NM_000051.4(ATM):c.5919-2A>C rs746623393
NM_000051.4(ATM):c.5919-2A>G rs746623393
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter) rs1555111763
NM_000051.4(ATM):c.5947dup (p.Ser1983fs) rs879254271
NM_000051.4(ATM):c.5977dup (p.Ser1993fs) rs1591758642
NM_000051.4(ATM):c.5978_5981del (p.Ser1993fs) rs2136061889
NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter) rs1555111910
NM_000051.4(ATM):c.6006+1G>A rs786202016
NM_000051.4(ATM):c.6006+1G>C rs786202016
NM_000051.4(ATM):c.6006+1G>T
NM_000051.4(ATM):c.6006G>A (p.Gln2002=) rs1591759073
NM_000051.4(ATM):c.6007-1G>A rs1365726807
NM_000051.4(ATM):c.6007-2A>G rs2136117225
NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs) rs1555113523
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6082del (p.Gln2028fs) rs1565499093
NM_000051.4(ATM):c.6095+2T>A
NM_000051.4(ATM):c.6095+2T>C rs1057516525
NM_000051.4(ATM):c.6095+4A>G rs1555113632
NM_000051.4(ATM):c.6096-1G>C rs1591778339
NM_000051.4(ATM):c.6096-2A>C
NM_000051.4(ATM):c.6096-2A>G rs1057520704
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.6116A>T (p.Glu2039Val) rs876659558
NM_000051.4(ATM):c.6128dup (p.Lys2044fs) rs1591778765
NM_000051.4(ATM):c.6130A>T (p.Lys2044Ter)
NM_000051.4(ATM):c.6133del (p.Ala2045fs) rs1555113762
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)
NM_000051.4(ATM):c.6182dup (p.Ala2062fs)
NM_000051.4(ATM):c.6184dup (p.Ala2062fs) rs2136131958
NM_000051.4(ATM):c.6188G>A (p.Gly2063Glu) rs866290641
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6198+3A>G rs786202092
NM_000051.4(ATM):c.6199-2del rs1555114545
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6238T>G (p.Tyr2080Asp) rs1064795467
NM_000051.4(ATM):c.6273del (p.Trp2091fs) rs1565503137
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter) rs1565503182
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter) rs1555114737
NM_000051.4(ATM):c.6312G>A (p.Trp2104Ter) rs1555114766
NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly) rs1060501654
NM_000051.4(ATM):c.6325dup (p.Trp2109fs) rs1555114812
NM_000051.4(ATM):c.6331_6332del (p.His2111fs)
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6348-1G>C rs1057517302
NM_000051.4(ATM):c.6348-2A>C
NM_000051.4(ATM):c.6348-2A>G rs864622367
NM_000051.4(ATM):c.6352del (p.Glu2118fs) rs1555116357
NM_000051.4(ATM):c.6364_6365del (p.Thr2122fs) rs2136219026
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs) rs1555116381
NM_000051.4(ATM):c.6371dup (p.Tyr2124Ter)
NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)
NM_000051.4(ATM):c.6384del (p.Leu2128fs) rs1555116427
NM_000051.4(ATM):c.6385T>G (p.Tyr2129Asp) rs876658542
NM_000051.4(ATM):c.6387_6388dup (p.Asn2130fs)
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter) rs1339238483
NM_000051.4(ATM):c.6451A>C (p.Arg2151=)
NM_000051.4(ATM):c.6452+2T>C rs1064795006
NM_000051.4(ATM):c.6453-1G>A rs1555117071
NM_000051.4(ATM):c.6453-1G>C rs1555117071
NM_000051.4(ATM):c.6453-1_6457del rs2136238332
NM_000051.4(ATM):c.6453-2A>G rs539978799
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs) rs1057516905
NM_000051.4(ATM):c.6490G>T (p.Glu2164Ter) rs1317619286
NM_000051.4(ATM):c.6498_6499del (p.Tyr2167fs) rs1060501707
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs) rs2085200653
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter) rs766706861
NM_000051.4(ATM):c.6572+1G>A rs587779856
NM_000051.4(ATM):c.6572+1G>T rs587779856
NM_000051.4(ATM):c.6572+2T>A
NM_000051.4(ATM):c.6573-12C>A rs1057521666
NM_000051.4(ATM):c.6573-1G>A rs1591128291
NM_000051.4(ATM):c.6573-1G>C rs1591128291
NM_000051.4(ATM):c.6573-1G>T
NM_000051.4(ATM):c.6585_6586del (p.His2195fs) rs1555119004
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer) rs747057367
NM_000051.4(ATM):c.6628C>T (p.Gln2210Ter)
NM_000051.4(ATM):c.6628del (p.Gln2210fs) rs886039616
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs) rs768909644
NM_000051.4(ATM):c.6665del (p.Pro2222fs)
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer) rs1591129041
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs) rs1591129337
NM_000051.4(ATM):c.6730dup (p.Arg2244fs) rs1060501543
NM_000051.4(ATM):c.6736_6755delinsCA (p.Cys2246_Thr2252delinsHis) rs1064794237
NM_000051.4(ATM):c.6745del (p.Asp2249fs)
NM_000051.4(ATM):c.6751del (p.Leu2251fs)
NM_000051.4(ATM):c.6798G>C (p.Lys2266Asn) rs2136318895
NM_000051.4(ATM):c.6807+1_6807+7del
NM_000051.4(ATM):c.6807+2T>C rs2136319469
NM_000051.4(ATM):c.6807+2_6807+14del
NM_000051.4(ATM):c.6808-1G>A
NM_000051.4(ATM):c.6808-1G>C rs2085644916
NM_000051.4(ATM):c.6808-2A>G
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs) rs1565520117
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs) rs2136332542
NM_000051.4(ATM):c.6840_6844del (p.Tyr2281fs) rs2136332584
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
NM_000051.4(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.4(ATM):c.6866_6867del (p.Val2288_Ser2289insTer) rs886039701
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter) rs2136334561
NM_000051.4(ATM):c.6890A>C (p.Gln2297Pro) rs1565520560
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.4(ATM):c.6899G>A (p.Trp2300Ter)
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser) rs1555119899
NM_000051.4(ATM):c.6933dup (p.Leu2312fs)
NM_000051.4(ATM):c.6949A>T (p.Lys2317Ter)
NM_000051.4(ATM):c.6951_6952del (p.Lys2318fs) rs2136339054
NM_000051.4(ATM):c.6975+1G>A rs1565521129
NM_000051.4(ATM):c.6975+1G>T rs1565521129
NM_000051.4(ATM):c.6975+2T>C rs879254199
NM_000051.4(ATM):c.6976-10_6989del rs587779859
NM_000051.4(ATM):c.6976-11_6976-8delinsATA
NM_000051.4(ATM):c.6976-1G>T rs1591141963
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.6976-2A>G rs587782403
NM_000051.4(ATM):c.6995_6998del (p.Leu2332fs)
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7013T>C (p.Leu2338Pro) rs1555120997
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs) rs1591142418
NM_000051.4(ATM):c.7066_7081del (p.Val2355_Ile2356insTer) rs886039502
NM_000051.4(ATM):c.7089+1G>A rs777741666
NM_000051.4(ATM):c.7089+1G>C rs777741666
NM_000051.4(ATM):c.7089+1G>T rs777741666
NM_000051.4(ATM):c.7089+2T>G rs1057516235
NM_000051.4(ATM):c.7089G>C (p.Lys2363Asn)
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs) rs1555122030
NM_000051.4(ATM):c.7163_7166del (p.Leu2388fs) rs2085980902
NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter) rs1018140779
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
NM_000051.4(ATM):c.7193dup (p.Tyr2398Ter)
NM_000051.4(ATM):c.7203del (p.Ile2401fs) rs2136417490
NM_000051.4(ATM):c.7219T>C (p.Ser2407Pro) rs1565526951
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs) rs1591151678
NM_000051.4(ATM):c.7253_7266del (p.Lys2418fs) rs1555122216
NM_000051.4(ATM):c.7261A>C (p.Lys2421Gln)
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs) rs886039628
NM_000051.4(ATM):c.7307+1G>A rs2086003529
NM_000051.4(ATM):c.7307+1G>T rs2086003529
NM_000051.4(ATM):c.7307+2_7307+4delinsCC
NM_000051.4(ATM):c.7307+2dup rs2086004268
NM_000051.4(ATM):c.7307+4A>G rs730881316
NM_000051.4(ATM):c.7308-15A>G
NM_000051.4(ATM):c.7308-1G>C rs1555122941
NM_000051.4(ATM):c.7308-2A>C rs1555122938
NM_000051.4(ATM):c.7308-2_7308-1delinsTT rs2136451316
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter) rs763470424
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7347dup (p.Leu2450fs) rs1555123008
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.4(ATM):c.7391_7412del (p.Cys2464fs) rs1064794690
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.4(ATM):c.7417del (p.Cys2473fs) rs2086125359
NM_000051.4(ATM):c.7452_7453del (p.Phe2485fs)
NM_000051.4(ATM):c.7473G>A (p.Trp2491Ter)
NM_000051.4(ATM):c.7515+1G>A rs1591161831
NM_000051.4(ATM):c.7515+1G>C
NM_000051.4(ATM):c.7515+1G>T rs1591161831
NM_000051.4(ATM):c.7516-1G>A
NM_000051.4(ATM):c.7516-1G>C
NM_000051.4(ATM):c.7516-2A>G
NM_000051.4(ATM):c.7588A>T (p.Lys2530Ter)
NM_000051.4(ATM):c.7629+1G>A rs1565532703
NM_000051.4(ATM):c.7629+1G>T
NM_000051.4(ATM):c.7629+1del
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7630-12_7630-11del
NM_000051.4(ATM):c.7630-1G>A rs2086285148
NM_000051.4(ATM):c.7630-2A>G rs587779866
NM_000051.4(ATM):c.7630-3C>G rs587782448
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7694dup (p.Asn2565fs) rs1591171790
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs) rs1060501547
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7708G>T (p.Glu2570Ter) rs1555124587
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter) rs2086308918
NM_000051.4(ATM):c.7767del (p.Lys2589fs) rs1057517025
NM_000051.4(ATM):c.7783_7788+28del
NM_000051.4(ATM):c.7788+1G>A rs1565534524
NM_000051.4(ATM):c.7788+1G>C rs1565534524
NM_000051.4(ATM):c.7788+1G>T rs1565534524
NM_000051.4(ATM):c.7788+3A>G rs869312788
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7788G>T (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7789-1G>A rs1591177953
NM_000051.4(ATM):c.7789-29_7789-16del
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7789-4A>G rs2086401774
NM_000051.4(ATM):c.7789G>T (p.Asp2597Tyr) rs1555125212
NM_000051.4(ATM):c.7796del (p.Thr2599fs) rs1555125223
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7858del (p.Val2620fs) rs1555125349
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val) rs766351395
NM_000051.4(ATM):c.7872T>A (p.Cys2624Ter)
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7889T>G (p.Leu2630Ter)
NM_000051.4(ATM):c.7914G>A (p.Trp2638Ter)
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)
NM_000051.4(ATM):c.7927+1G>A rs1555125532
NM_000051.4(ATM):c.7927+1G>C rs1555125532
NM_000051.4(ATM):c.7927+2T>C
NM_000051.4(ATM):c.7927+2T>G rs2086432758
NM_000051.4(ATM):c.7927+5del rs786204437
NM_000051.4(ATM):c.7928-1G>A rs1555126163
NM_000051.4(ATM):c.7928-2A>G rs864622610
NM_000051.4(ATM):c.7928-2A>T rs864622610
NM_000051.4(ATM):c.7929delA (p.Gly2644fs) rs1064795550
NM_000051.4(ATM):c.7940_7970del (p.Ile2647fs) rs2136611559
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.7997C>T (p.Thr2666Ile) rs730881384
NM_000051.4(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.4(ATM):c.8010+1del rs876659350
NM_000051.4(ATM):c.8010+2T>C rs1591184927
NM_000051.4(ATM):c.8010+2T>G
NM_000051.4(ATM):c.8010G>C (p.Lys2670Asn)
NM_000051.4(ATM):c.8011-1G>C rs1555127017
NM_000051.4(ATM):c.8011-21_8015del
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.4(ATM):c.8054C>A (p.Ser2685Ter) rs2086676230
NM_000051.4(ATM):c.8056T>C (p.Phe2686Leu) rs1555127125
NM_000051.4(ATM):c.8076dup (p.Ala2693fs) rs1555127151
NM_000051.4(ATM):c.8096C>T (p.Pro2699Leu) rs879254209
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs) rs1064793406
NM_000051.4(ATM):c.8105T>C (p.Ile2702Thr) rs876659735
NM_000051.4(ATM):c.8106dup (p.Asp2703fs) rs1555127231
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8122G>C (p.Asp2708His) rs587782719
NM_000051.4(ATM):c.8122G>T (p.Asp2708Tyr) rs587782719
NM_000051.4(ATM):c.8127del (p.Lys2710fs) rs1591192266
NM_000051.4(ATM):c.8136_8142del (p.Arg2712fs)
NM_000051.4(ATM):c.8146G>T (p.Val2716Phe) rs730881385
NM_000051.4(ATM):c.8148_8151+2del rs1565541335
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter) rs774334667
NM_000051.4(ATM):c.8150A>G (p.Lys2717Arg) rs1555127353
NM_000051.4(ATM):c.8151+1G>C rs1591192583
NM_000051.4(ATM):c.8151+1G>T
NM_000051.4(ATM):c.8151G>A (p.Lys2717=) rs1591192550
NM_000051.4(ATM):c.8152-18T>G rs1591197705
NM_000051.4(ATM):c.8152-1G>A rs1398616877
NM_000051.4(ATM):c.8152-2A>G rs777602049
NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn) rs876659066
NM_000051.4(ATM):c.8170C>T (p.Gln2724Ter) rs2086784990
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.4(ATM):c.8189A>C (p.Gln2730Pro) rs762154857
NM_000051.4(ATM):c.8202dup (p.Cys2735fs) rs2136695766
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs) rs1555128432
NM_000051.4(ATM):c.8207_8211del (p.Asn2736fs) rs2136696317
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs) rs1162534390
NM_000051.4(ATM):c.8227_8228del (p.Thr2743fs) rs2086795898
NM_000051.4(ATM):c.8233del (p.Thr2745fs)
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del) rs771146489
NM_000051.4(ATM):c.8253dup (p.Ile2752fs)
NM_000051.4(ATM):c.8268+1G>A rs876658957
NM_000051.4(ATM):c.8268+1G>C rs876658957
NM_000051.4(ATM):c.8268+1G>T rs876658957
NM_000051.4(ATM):c.8268+2T>C rs1565544020
NM_000051.4(ATM):c.8268G>A (p.Lys2756=) rs1555128642
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn) rs1555128642
NM_000051.4(ATM):c.8269-14A>G
NM_000051.4(ATM):c.8269-1G>A
NM_000051.4(ATM):c.8269-1G>C rs1565557607
NM_000051.4(ATM):c.8269-2A>G
NM_000051.4(ATM):c.8288del (p.Arg2763fs) rs886039630
NM_000051.4(ATM):c.8291dup (p.Ser2764fs)
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.4(ATM):c.8294G>A (p.Gly2765Asp) rs1565557835
NM_000051.4(ATM):c.8294G>C (p.Gly2765Ala)
NM_000051.4(ATM):c.8294G>T (p.Gly2765Val) rs1565557835
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs) rs786202318
NM_000051.4(ATM):c.8305del (p.Trp2769fs)
NM_000051.4(ATM):c.8315del (p.Gly2772fs)
NM_000051.4(ATM):c.8367_8368del (p.Arg2790fs)
NM_000051.4(ATM):c.8368del (p.Arg2790fs) rs2136948975
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs) rs1064793046
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8376del (p.Arg2792fs)
NM_000051.4(ATM):c.8381del (p.Asn2794fs) rs2136950565
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8395_8404dup (p.Gln2802fs) rs786202800
NM_000051.4(ATM):c.8416_8418+5del rs1591249480
NM_000051.4(ATM):c.8418+1G>A rs766533795
NM_000051.4(ATM):c.8418+1_8418+3del rs2136953867
NM_000051.4(ATM):c.8418+2T>C rs1060501713
NM_000051.4(ATM):c.8418+5G>A rs1305740166
NM_000051.4(ATM):c.8418G>A (p.Met2806Ile) rs762744146
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile) rs762744146
NM_000051.4(ATM):c.8419-1G>A
NM_000051.4(ATM):c.8419-1G>C rs1555137920
NM_000051.4(ATM):c.8419-2A>C rs1555137917
NM_000051.4(ATM):c.8419-2A>G rs1555137917
NM_000051.4(ATM):c.8419-3_8419-1del
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter) rs1555137973
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter) rs2137026687
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.4(ATM):c.8485C>T (p.Pro2829Ser) rs2137030040
NM_000051.4(ATM):c.8495G>C (p.Arg2832Pro) rs529296539
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter) rs779394254
NM_000051.4(ATM):c.8564G>T (p.Ser2855Ile) rs2088303841
NM_000051.4(ATM):c.8564del (p.Ser2855fs) rs886039643
NM_000051.4(ATM):c.8565T>A (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del) rs786203976
NM_000051.4(ATM):c.8578_8584+17del
NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr) rs2137038745
NM_000051.4(ATM):c.8584+16A>G rs1322889530
NM_000051.4(ATM):c.8584+1G>A rs876658182
NM_000051.4(ATM):c.8584+1G>C rs876658182
NM_000051.4(ATM):c.8585-13_8598del rs1555139443
NM_000051.4(ATM):c.8585-1G>A rs876660066
NM_000051.4(ATM):c.8585-2A>C rs1060501700
NM_000051.4(ATM):c.8585-2A>G rs1060501700
NM_000051.4(ATM):c.8585-3_8585-1delinsT
NM_000051.4(ATM):c.8586del (p.Gly2863fs) rs1555139467
NM_000051.4(ATM):c.8644_8647del (p.Ser2882fs) rs2137083265
NM_000051.4(ATM):c.8668_8671+9del rs2088564736
NM_000051.4(ATM):c.8671+1G>A
NM_000051.4(ATM):c.8671+1G>T rs1555139694
NM_000051.4(ATM):c.8671+2T>C rs1057516229
NM_000051.4(ATM):c.8671+2T>G rs1057516229
NM_000051.4(ATM):c.8671+2del
NM_000051.4(ATM):c.8672-1G>A rs876660088
NM_000051.4(ATM):c.8672-1G>C rs876660088
NM_000051.4(ATM):c.8672-1G>T rs876660088
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter) rs1565579084
NM_000051.4(ATM):c.8687A>C (p.Gln2896Pro) rs2089494486
NM_000051.4(ATM):c.8695dup (p.Ile2899fs) rs1555142816
NM_000051.4(ATM):c.8708C>T (p.Pro2903Leu) rs2089498194
NM_000051.4(ATM):c.8708del (p.Pro2903fs)
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.4(ATM):c.8712G>C (p.Glu2904Asp)
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.4(ATM):c.8731dup (p.Thr2911fs) rs2137291352
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.4(ATM):c.8732_8752del (p.Thr2911_Gly2917del)
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr) rs756899044
NM_000051.4(ATM):c.8786+1G>C rs17174393
NM_000051.4(ATM):c.8786_8786+3del rs1060501569
NM_000051.4(ATM):c.8787-1G>A
NM_000051.4(ATM):c.8787-2A>G rs2089688512
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.4(ATM):c.8802del (p.Met2935fs) rs876660567
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs) rs1555143538
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs) rs786202547
NM_000051.4(ATM):c.8837T>G (p.Leu2946Ter)
NM_000051.4(ATM):c.8842_8850+3824del
NM_000051.4(ATM):c.8850+1G>A rs1555143620
NM_000051.4(ATM):c.8850+1G>T
NM_000051.4(ATM):c.8850+2T>C rs1555143623
NM_000051.4(ATM):c.8850+2T>G rs1555143623
NM_000051.4(ATM):c.8851-1G>A rs1057516537
NM_000051.4(ATM):c.8851-1G>T rs1057516537
NM_000051.4(ATM):c.8851-2A>G rs886039647
NM_000051.4(ATM):c.8851-2A>T
NM_000051.4(ATM):c.8851-4_8852del rs2091196613
NM_000051.4(ATM):c.8851G>A (p.Val2951Ile) rs1555151205
NM_000051.4(ATM):c.8871_8872del (p.Leu2957_Phe2958insTer) rs2091200503
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8907T>G (p.Tyr2969Ter)
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.4(ATM):c.8918_8929delinsTGT (p.Arg2973_Glu2977delinsMetTer) rs1064795675
NM_000051.4(ATM):c.8942del (p.His2981fs) rs786203489
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs) rs2091211325
NM_000051.4(ATM):c.8967del (p.Glu2990fs)
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.8988-1G>T rs730881386
NM_000051.4(ATM):c.8988-2A>C rs786202087
NM_000051.4(ATM):c.8988-2A>G rs786202087
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs) rs2137906600
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.4(ATM):c.9021dup (p.Arg3008fs) rs876660235
NM_000051.4(ATM):c.9022C>A (p.Arg3008Ser) rs587782292
NM_000051.4(ATM):c.9022C>G (p.Arg3008Gly) rs587782292
NM_000051.4(ATM):c.9023G>C (p.Arg3008Pro) rs587781894
NM_000051.4(ATM):c.9023G>T (p.Arg3008Leu) rs587781894
NM_000051.4(ATM):c.9039dup (p.Gln3014fs) rs879253972
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter) rs2137911487
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) rs587782847
NM_000051.4(ATM):c.9054del (p.Gly3019fs)
NM_000051.4(ATM):c.9057_9058dup (p.Val3020fs) rs2137913928
NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter) rs2091244384
NM_000051.4(ATM):c.9064dup (p.Glu3022fs) rs1057516282
NM_000051.4(ATM):c.9068del (p.Gly3023fs) rs1591387383
NM_000051.4(ATM):c.9071del (p.Thr3024fs)
NM_000051.4(ATM):c.9073dup (p.Val3025fs) rs2137916728
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter) rs2091249987
NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter) rs1555152009
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter) rs1591387978
NM_000051.4(ATM):c.9112del (p.Gln3038fs) rs587779878
NM_000051.4(ATM):c.9132_9135dup (p.Arg3047fs) rs2137926139
NM_000051.4(ATM):c.9132del (p.Leu3045fs)
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs) rs1555152058
NM_000051.4(ATM):c.9146del (p.Phe3049fs) rs1555152058
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly) rs2091262473
NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser) rs2091262802
NM_001330368.2(C11orf65):c.641-36671del rs2137023331
NM_001330368.2(C11orf65):c.641-6751dup rs1555113505

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