|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
|
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser)
|
rs61761068
|
0.00859
|
|
NM_033225.6(CSMD1):c.8935G>A (p.Gly2979Ser)
|
rs117633452
|
0.00586
|
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
|
NM_001378615.1(CC2D2A):c.1762C>T (p.Gln588Ter)
|
rs116358011
|
0.00057
|
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
|
NM_198994.3(TGM6):c.1429_1430insTCTCT (p.Gly477fs)
|
rs766605124
|
0.00052
|
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
|
NM_001077418.3(TMEM231):c.139+47C>A
|
rs200063331
|
0.00029
|
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
|
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
|
rs80356540
|
0.00028
|
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
|
NM_001379286.1(ZNF423):c.2762C>T (p.Pro921Leu)
|
rs200585917
|
0.00023
|
|
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)
|
rs587781722
|
0.00021
|
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
|
NM_014396.4(VPS41):c.1984C>T (p.Arg662Ter)
|
rs199716160
|
0.00021
|
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
|
NM_001349232.2(ATG7):c.1975C>T (p.Arg659Ter)
|
rs201706487
|
0.00017
|
|
NM_006793.5(PRDX3):c.604G>A (p.Asp202Asn)
|
rs548327727
|
0.00017
|
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
|
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)
|
rs386834153
|
0.00013
|
|
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
|
NM_014889.4(PITRM1):c.2792C>T (p.Thr931Met)
|
rs187308159
|
0.00012
|
|
NM_017872.5(THG1L):c.164T>C (p.Val55Ala)
|
rs201920319
|
0.00012
|
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
|
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His)
|
rs587782989
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00011
|
|
NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter)
|
rs967105970
|
0.00011
|
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
|
NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln)
|
rs573267388
|
0.00010
|
|
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
|
NM_153704.6(TMEM67):c.224-2del
|
rs386834190
|
0.00010
|
|
NM_198994.3(TGM6):c.980A>G (p.Asp327Gly)
|
rs387907098
|
0.00010
|
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
|
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
|
rs1442638461
|
0.00009
|
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
|
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)
|
rs267607119
|
0.00009
|
|
NM_000051.4(ATM):c.1236-2A>T
|
rs80159221
|
0.00008
|
|
NM_001329943.3(KIAA0586):c.1254-1G>C
|
rs757350052
|
0.00008
|
|
NM_001378615.1(CC2D2A):c.1017+1G>A
|
rs200407856
|
0.00008
|
|
NM_007289.4(MME):c.1342C>T (p.Arg448Ter)
|
rs149905705
|
0.00008
|
|
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)
|
rs267606941
|
0.00008
|
|
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)
|
rs587776906
|
0.00007
|
|
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly)
|
rs78437096
|
0.00007
|
|
NM_006793.5(PRDX3):c.425C>G (p.Ala142Gly)
|
rs202061531
|
0.00007
|
|
NM_018294.6(CWF19L1):c.964+1G>A
|
rs587780326
|
0.00007
|
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
|
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_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
|
NM_001134831.2(AHI1):c.2623+1G>A
|
rs751823180
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met)
|
rs267606709
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)
|
rs530569572
|
0.00006
|
|
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter)
|
rs368928190
|
0.00006
|
|
NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter)
|
rs752352896
|
0.00006
|
|
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
|
rs564625875
|
0.00006
|
|
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)
|
rs771578775
|
0.00006
|
|
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser)
|
rs119468009
|
0.00006
|
|
NM_022464.5(SIL1):c.1030-9G>A
|
rs370290043
|
0.00006
|
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
0.00006
|
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
|
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)
|
rs386834202
|
0.00006
|
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
|
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)
|
rs387907097
|
0.00006
|
|
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)
|
rs119455954
|
0.00005
|
|
NM_001077418.3(TMEM231):c.664+4A>G
|
rs760426025
|
0.00005
|
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00005
|
|
NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys)
|
rs606231453
|
0.00005
|
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
|
NM_198994.3(TGM6):c.1528G>C (p.Asp510His)
|
rs201964784
|
0.00005
|
|
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.5763-1050A>G
|
rs774925473
|
0.00004
|
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
|
NM_000144.5(FXN):c.389G>T (p.Gly130Val)
|
rs104894107
|
0.00004
|
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
|
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)
|
rs756564767
|
0.00004
|
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
|
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)
|
rs188850202
|
0.00004
|
|
NM_000784.4(CYP27A1):c.845-1G>A
|
rs397515353
|
0.00004
|
|
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter)
|
rs775449384
|
0.00004
|
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
|
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)
|
rs863225147
|
0.00004
|
|
NM_001349232.2(ATG7):c.2080-2A>G
|
rs200074530
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)
|
rs563610095
|
0.00004
|
|
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter)
|
rs770296270
|
0.00004
|
|
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)
|
rs587777138
|
0.00004
|
|
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)
|
rs375113643
|
0.00004
|
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00004
|
|
NM_001386140.1(MTTP):c.1867+1G>A
|
rs764189338
|
0.00004
|
|
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)
|
rs146064714
|
0.00004
|
|
NM_006793.5(PRDX3):c.43C>T (p.Arg15Ter)
|
rs371560438
|
0.00004
|
|
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp)
|
rs786203983
|
0.00004
|
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
|
NM_016373.4(WWOX):c.173-6T>G
|
rs200812468
|
0.00004
|
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
|
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)
|
rs772170760
|
0.00004
|
|
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)
|
rs370119681
|
0.00004
|
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
|
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter)
|
rs150332116
|
0.00004
|
|
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)
|
rs201128942
|
0.00004
|
|
NM_182961.4(SYNE1):c.15918-12A>G
|
rs606231134
|
0.00004
|
|
NM_198994.3(TGM6):c.331C>T (p.Arg111Cys)
|
rs372250159
|
0.00004
|
|
NM_198994.3(TGM6):c.691C>T (p.Arg231Ter)
|
rs201338900
|
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.8264_8268del (p.Tyr2755fs)
|
rs730881294
|
0.00003
|
|
NM_000143.4(FH):c.698G>A (p.Arg233His)
|
rs121913123
|
0.00003
|
|
NM_000391.4(TPP1):c.827A>T (p.Asp276Val)
|
rs763162812
|
0.00003
|
|
NM_000784.4(CYP27A1):c.1263+1G>A
|
rs397515355
|
0.00003
|
|
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)
|
rs121908097
|
0.00003
|
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
|
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)
|
rs575064188
|
0.00003
|
|
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)
|
rs397514609
|
0.00003
|
|
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)
|
rs376555896
|
0.00003
|
|
NM_001077418.3(TMEM231):c.284del (p.Asp95fs)
|
rs750897443
|
0.00003
|
|
NM_001077418.3(TMEM231):c.438+1G>A
|
rs1415483600
|
0.00003
|
|
NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met)
|
rs606231454
|
0.00003
|
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
|
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)
|
rs372659908
|
0.00003
|
|
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)
|
rs755459875
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs)
|
rs1307758243
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=)
|
rs780520735
|
0.00003
|
|
NM_001349232.2(ATG7):c.1727G>A (p.Arg576His)
|
rs142493104
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met)
|
rs386833752
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter)
|
rs529437224
|
0.00003
|
|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
|
NM_006297.3(XRCC1):c.1293G>C (p.Lys431Asn)
|
rs761564262
|
0.00003
|
|
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter)
|
rs538343832
|
0.00003
|
|
NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp)
|
rs267606820
|
0.00003
|
|
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
|
rs267606821
|
0.00003
|
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
|
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)
|
rs121434379
|
0.00003
|
|
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter)
|
rs587777248
|
0.00003
|
|
NM_016614.3(TDP2):c.425+1G>A
|
rs372245668
|
0.00003
|
|
NM_018075.5(ANO10):c.1529T>G (p.Leu510Arg)
|
rs387907089
|
0.00003
|
|
NM_018075.5(ANO10):c.337+1G>A
|
rs765592794
|
0.00003
|
|
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter)
|
rs781848162
|
0.00003
|
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
|
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter)
|
rs535912271
|
0.00003
|
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
|
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)
|
rs575767207
|
0.00003
|
|
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)
|
rs375548374
|
0.00003
|
|
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)
|
rs747025617
|
0.00003
|
|
NM_000051.4(ATM):c.2466+1552G>C
|
rs963653732
|
0.00002
|
|
NM_000051.4(ATM):c.3993+1G>A
|
rs200196781
|
0.00002
|
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
|
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)
|
rs746235533
|
0.00002
|
|
NM_000051.4(ATM):c.7739G>A (p.Arg2580Lys)
|
rs761790685
|
0.00002
|
|
NM_000051.4(ATM):c.7875T>G (p.Asp2625Glu)
|
rs1196903858
|
0.00002
|
|
NM_000051.4(ATM):c.7876G>C (p.Ala2626Pro)
|
rs267606669
|
0.00002
|
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
|
NM_000051.4(ATM):c.901+1G>A
|
rs748840480
|
0.00002
|
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
|
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu)
|
rs372445155
|
0.00002
|
|
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)
|
rs786204758
|
0.00002
|
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
|
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)
|
rs121908200
|
0.00002
|
|
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
|
rs121908202
|
0.00002
|
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
|
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter)
|
rs72551319
|
0.00002
|
|
NM_001044385.3(TMEM237):c.553+1G>A
|
rs80034299
|
0.00002
|
|
NM_001044385.3(TMEM237):c.943+1G>T
|
rs748510210
|
0.00002
|
|
NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr)
|
rs1197109885
|
0.00002
|
|
NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp)
|
rs606231455
|
0.00002
|
|
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs)
|
rs1445681647
|
0.00002
|
|
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)
|
rs863225138
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter)
|
rs1064793157
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=)
|
rs540255320
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter)
|
rs373763986
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter)
|
rs776003330
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)
|
rs770566897
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr)
|
rs760918829
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)
|
rs1022325907
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)
|
rs779823379
|
0.00002
|
|
NM_001382391.1(CSPP1):c.1976-2A>G
|
rs1320076769
|
0.00002
|
|
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter)
|
rs771203308
|
0.00002
|
|
NM_001382391.1(CSPP1):c.430_431del (p.Arg144fs)
|
rs750696284
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
|
NM_001510.4(GRID2):c.2128C>T (p.Arg710Trp)
|
rs750331613
|
0.00002
|
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
|
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter)
|
rs553512431
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
|
rs121918204
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)
|
rs778533826
|
0.00002
|
|
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)
|
rs745688122
|
0.00002
|
|
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)
|
rs756762196
|
0.00002
|
|
NM_018319.4(TDP1):c.1478A>G (p.His493Arg)
|
rs119467003
|
0.00002
|
|
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
|
rs782371437
|
0.00002
|
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
|
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp)
|
rs140246430
|
0.00002
|
|
NM_024809.5(TCTN2):c.1506-2A>G
|
rs374349989
|
0.00002
|
|
NM_025114.4(CEP290):c.1066-1G>A
|
rs965522059
|
0.00002
|
|
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)
|
rs776645403
|
0.00002
|
|
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)
|
rs770126103
|
0.00002
|
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
|
NM_025114.4(CEP290):c.6012-12T>A
|
rs752197734
|
0.00002
|
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
|
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)
|
rs760540562
|
0.00002
|
|
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter)
|
rs797044992
|
0.00002
|
|
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)
|
rs752362727
|
0.00002
|
|
NM_153704.6(TMEM67):c.1927C>T (p.Arg643Ter)
|
rs115195998
|
0.00002
|
|
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)
|
rs751517725
|
0.00002
|
|
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)
|
rs765468645
|
0.00002
|
|
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter)
|
rs760752847
|
0.00002
|
|
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)
|
rs375077588
|
0.00002
|
|
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter)
|
rs778445117
|
0.00002
|
|
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter)
|
rs199708211
|
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.1235+3A>G
|
rs1417190414
|
0.00001
|
|
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)
|
rs587779813
|
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.1695A>G (p.Glu565=)
|
rs780932013
|
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.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.3154-2A>G
|
rs730881357
|
0.00001
|
|
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)
|
rs1060501687
|
0.00001
|
|
NM_000051.4(ATM):c.3247del (p.His1083fs)
|
rs767099464
|
0.00001
|
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
|
NM_000051.4(ATM):c.3432G>A (p.Leu1144=)
|
rs1060501625
|
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.3747-16A>G
|
rs1555093241
|
0.00001
|
|
NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter)
|
rs1453429915
|
0.00001
|
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
|
NM_000051.4(ATM):c.3994-159A>G
|
rs864622543
|
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.4668T>G (p.Tyr1556Ter)
|
rs766438805
|
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.4909+4C>T
|
rs587782125
|
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.5293C>T (p.Gln1765Ter)
|
rs2083444895
|
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.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.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
|
NM_000051.4(ATM):c.6629del (p.Gln2210fs)
|
rs2085556498
|
0.00001
|
|
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter)
|
rs1060501536
|
0.00001
|
|
NM_000051.4(ATM):c.6661G>T (p.Glu2221Ter)
|
rs1591128898
|
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.680C>T (p.Ser227Leu)
|
rs762998620
|
0.00001
|
|
NM_000051.4(ATM):c.6839del (p.Gln2280fs)
|
rs1407907917
|
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.72+1G>A
|
rs786204088
|
0.00001
|
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
|
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)
|
rs773516672
|
0.00001
|
|
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)
|
rs587779865
|
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.7630-2A>C
|
rs587779866
|
0.00001
|
|
NM_000051.4(ATM):c.7777C>T (p.Gln2593Ter)
|
rs781215442
|
0.00001
|
|
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn)
|
rs730881384
|
0.00001
|
|
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg)
|
rs876659735
|
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.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
|
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)
|
rs778269655
|
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.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.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
|
NM_000051.4(ATM):c.8786+1G>T
|
rs17174393
|
0.00001
|
|
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)
|
rs758814126
|
0.00001
|
|
NM_000051.4(ATM):c.8988-1G>C
|
rs730881386
|
0.00001
|
|
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)
|
rs587781698
|
0.00001
|
|
NM_000051.4(ATM):c.902-1G>T
|
rs1064793518
|
0.00001
|
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
|
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)
|
rs121434219
|
0.00001
|
|
NM_000051.4(ATM):c.943_944del (p.Leu315fs)
|
rs768024233
|
0.00001
|
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
|
NM_000144.5(FXN):c.3G>T (p.Met1Ile)
|
rs104894108
|
0.00001
|
|
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)
|
rs267608239
|
0.00001
|
|
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)
|
rs80338700
|
0.00001
|
|
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)
|
rs397515522
|
0.00001
|
|
NM_000370.3(TTPA):c.205-1G>C
|
rs886040963
|
0.00001
|
|
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)
|
rs397515524
|
0.00001
|
|
NM_000384.3(APOB):c.10633G>T (p.Glu3545Ter)
|
rs759934326
|
0.00001
|
|
NM_000384.3(APOB):c.11712del (p.Asn3904fs)
|
rs587776852
|
0.00001
|
|
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter)
|
rs121918386
|
0.00001
|
|
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter)
|
rs121918390
|
0.00001
|
|
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)
|
rs398122959
|
0.00001
|
|
NM_000391.4(TPP1):c.851G>T (p.Gly284Val)
|
rs119455957
|
0.00001
|
|
NM_000391.4(TPP1):c.887-10A>G
|
rs755445790
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1185-1G>A
|
rs587778779
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1263+2T>C
|
rs777935791
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1263+5G>T
|
rs587778784
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
|
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)
|
rs1398584213
|
0.00001
|
|
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter)
|
rs1319938730
|
0.00001
|
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
|
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)
|
rs72551314
|
0.00001
|
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
|
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)
|
rs72551315
|
0.00001
|
|
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)
|
rs72551316
|
0.00001
|
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
|
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser)
|
rs771145682
|
0.00001
|
|
NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter)
|
rs1687223389
|
0.00001
|
|
NM_001044385.3(TMEM237):c.677+1G>A
|
rs793888505
|
0.00001
|
|
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter)
|
rs543122080
|
0.00001
|
|
NM_001077418.3(TMEM231):c.582+1G>A
|
rs752141701
|
0.00001
|
|
NM_001130698.2(TRPC3):c.2285G>A (p.Arg762His)
|
rs142339351
|
0.00001
|
|
NM_001134831.2(AHI1):c.1152-2A>G
|
rs753085250
|
0.00001
|
|
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)
|
rs863225143
|
0.00001
|
|
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His)
|
rs387907003
|
0.00001
|
|
NM_001134831.2(AHI1):c.1626+1G>A
|
rs863225137
|
0.00001
|
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
|
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
|
rs751734985
|
0.00001
|
|
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)
|
rs541041911
|
0.00001
|
|
NM_001134831.2(AHI1):c.2172del (p.Trp725fs)
|
rs755407014
|
0.00001
|
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
|
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)
|
rs863225135
|
0.00001
|
|
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)
|
rs368788993
|
0.00001
|
|
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)
|
rs774628957
|
0.00001
|
|
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
|
rs1270654737
|
0.00001
|
|
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)
|
rs863225142
|
0.00001
|
|
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)
|
rs201391050
|
0.00001
|
|
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)
|
rs138358708
|
0.00001
|
|
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)
|
rs762607878
|
0.00001
|
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=)
|
rs762081862
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter)
|
rs749475936
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs)
|
rs1410766981
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3097dup (p.Ala1033fs)
|
rs1364954371
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3700del (p.Val1234fs)
|
rs1253807820
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4495+3777del
|
rs1237632090
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4495+3785A>T
|
rs942756021
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)
|
rs757208121
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
|
rs781252161
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)
|
rs118204053
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)
|
rs773881370
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3134T>C (p.Val1045Ala)
|
rs863225173
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3452T>C (p.Val1151Ala)
|
rs863225170
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln)
|
rs763486732
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)
|
rs118204052
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val)
|
rs778858648
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4741A>G (p.Thr1581Ala)
|
rs863225174
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)
|
rs386833763
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter)
|
rs775285273
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1697+1G>T
|
rs863225193
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter)
|
rs1225726214
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter)
|
rs1380418532
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2968+1G>T
|
rs587777142
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter)
|
rs760275528
|
0.00001
|
|
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter)
|
rs774703929
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2422_2423del (p.Leu808fs)
|
rs1242532564
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7400+1G>A
|
rs367543062
|
0.00001
|
|
NM_001386140.1(MTTP):c.1392del (p.Glu465fs)
|
rs1725827570
|
0.00001
|
|
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter)
|
rs199422219
|
0.00001
|
|
NM_001386140.1(MTTP):c.1867+5G>A
|
rs1429774833
|
0.00001
|
|
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn)
|
rs770597316
|
0.00001
|
|
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln)
|
rs201335279
|
0.00001
|
|
NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg)
|
rs1466750124
|
0.00001
|
|
NM_003383.5(VLDLR):c.83-1G>A
|
rs770269674
|
0.00001
|
|
NM_003383.5(VLDLR):c.835C>T (p.Arg279Ter)
|
rs1428899305
|
0.00001
|
|
NM_004056.6(CA8):c.710G>A (p.Arg237Gln)
|
rs387906598
|
0.00001
|
|
NM_005861.4(STUB1):c.673C>T (p.Arg225Ter)
|
rs1395191127
|
0.00001
|
|
NM_005861.4(STUB1):c.719T>C (p.Met240Thr)
|
rs587777345
|
0.00001
|
|
NM_005861.4(STUB1):c.823_824del (p.Leu275fs)
|
rs748984540
|
0.00001
|
|
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln)
|
rs151344523
|
0.00001
|
|
NM_007254.4(PNKP):c.148C>G (p.Gln50Glu)
|
rs756746191
|
0.00001
|
|
NM_012268.4(PLD3):c.923T>C (p.Leu308Pro)
|
rs537053537
|
0.00001
|
|
NM_014053.4(FLVCR1):c.3G>T (p.Met1Ile)
|
rs899735028
|
0.00001
|
|
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)
|
rs1057517250
|
0.00001
|
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
|
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter)
|
rs774906736
|
0.00001
|
|
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)
|
rs769212398
|
0.00001
|
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
|
NM_014363.6(SACS):c.3066del (p.Asn1025fs)
|
rs1057516767
|
0.00001
|
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
|
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)
|
rs755824618
|
0.00001
|
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
|
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)
|
rs780184251
|
0.00001
|
|
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)
|
rs773182375
|
0.00001
|
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
|
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)
|
rs886041949
|
0.00001
|
|
NM_014396.4(VPS41):c.1423-2A>G
|
rs1220530084
|
0.00001
|
|
NM_014396.4(VPS41):c.853T>C (p.Ser285Pro)
|
rs544223875
|
0.00001
|
|
NM_014889.4(PITRM1):c.548G>A (p.Arg183Gln)
|
rs1249144069
|
0.00001
|
|
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)
|
rs121434376
|
0.00001
|
|
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)
|
rs1391764195
|
0.00001
|
|
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)
|
rs1169623576
|
0.00001
|
|
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)
|
rs773379832
|
0.00001
|
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
|
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val)
|
rs1564482221
|
0.00001
|
|
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)
|
rs1331217337
|
0.00001
|
|
NM_015046.7(SETX):c.820A>G (p.Met274Val)
|
rs753713810
|
0.00001
|
|
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)
|
rs29001665
|
0.00001
|
|
NM_015160.3(PMPCA):c.1408+1G>A
|
rs753895120
|
0.00001
|
|
NM_015160.3(PMPCA):c.1543G>A (p.Gly515Arg)
|
rs869025293
|
0.00001
|
|
NM_015160.3(PMPCA):c.766G>A (p.Val256Met)
|
rs746549806
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
|
rs745413543
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)
|
rs145665129
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.776+1G>A
|
rs771226563
|
0.00001
|
|
NM_015378.4(VPS13D):c.12629C>T (p.Ala4210Val)
|
rs746736545
|
0.00001
|
|
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)
|
rs793888508
|
0.00001
|
|
NM_016373.4(WWOX):c.172+1G>C
|
rs1377640182
|
0.00001
|
|
NM_016373.4(WWOX):c.605+5G>A
|
rs1039151413
|
0.00001
|
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
|
NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter)
|
rs146264153
|
0.00001
|
|
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)
|
rs1304109530
|
0.00001
|
|
NM_016529.6(ATP8A2):c.3272+1G>A
|
rs779337270
|
0.00001
|
|
NM_016529.6(ATP8A2):c.77-2A>G
|
rs373909734
|
0.00001
|
|
NM_017686.4(GDAP2):c.1198_1199insG (p.His400fs)
|
rs547792505
|
0.00001
|
|
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)
|
rs762482919
|
0.00001
|
|
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)
|
rs990955357
|
0.00001
|
|
NM_018075.5(ANO10):c.1163-9A>G
|
rs1368543726
|
0.00001
|
|
NM_018075.5(ANO10):c.1219-1G>T
|
rs1318561721
|
0.00001
|
|
NM_018075.5(ANO10):c.124A>T (p.Lys42Ter)
|
rs768831597
|
0.00001
|
|
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer)
|
rs772345347
|
0.00001
|
|
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)
|
rs1588830568
|
0.00001
|
|
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys)
|
rs119468008
|
0.00001
|
|
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp)
|
rs765235707
|
0.00001
|
|
NM_020247.5(COQ8A):c.589-3C>G
|
rs1229054489
|
0.00001
|
|
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)
|
rs119468005
|
0.00001
|
|
NM_020680.4(SCYL1):c.1230+1G>A
|
rs864309666
|
0.00001
|
|
NM_020680.4(SCYL1):c.1636C>T (p.Gln546Ter)
|
rs864309667
|
0.00001
|
|
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val)
|
rs942522644
|
0.00001
|
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
|
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)
|
rs80356544
|
0.00001
|
|
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)
|
rs386834146
|
0.00001
|
|
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr)
|
rs80356542
|
0.00001
|
|
NM_021830.5(TWNK):c.967C>T (p.Arg323Ter)
|
rs863223919
|
0.00001
|
|
NM_023077.3(COA7):c.410A>G (p.Tyr137Cys)
|
rs961876891
|
0.00001
|
|
NM_024411.5(PDYN):c.632T>C (p.Leu211Ser)
|
rs267606940
|
0.00001
|
|
NM_024411.5(PDYN):c.634C>T (p.Arg212Trp)
|
rs201486601
|
0.00001
|
|
NM_024411.5(PDYN):c.643C>T (p.Arg215Cys)
|
rs267606939
|
0.00001
|
|
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
|
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)
|
rs760415289
|
0.00001
|
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
|
NM_025114.4(CEP290):c.2343T>C (p.Asn781=)
|
rs748034744
|
0.00001
|
|
NM_025114.4(CEP290):c.3185del (p.Leu1062fs)
|
rs863225189
|
0.00001
|
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
|
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)
|
rs371525247
|
0.00001
|
|
NM_025114.4(CEP290):c.6012-2A>G
|
rs555755221
|
0.00001
|
|
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter)
|
rs750073051
|
0.00001
|
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
|
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg)
|
rs1487082103
|
0.00001
|
|
NM_144992.5(VWA3B):c.1865A>C (p.Lys622Thr)
|
rs876657414
|
0.00001
|
|
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter)
|
rs201915239
|
0.00001
|
|
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)
|
rs863225235
|
0.00001
|
|
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)
|
rs116647652
|
0.00001
|
|
NM_153704.6(TMEM67):c.1353del (p.Glu452fs)
|
rs749435317
|
0.00001
|
|
NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter)
|
rs778155409
|
0.00001
|
|
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)
|
rs267607115
|
0.00001
|
|
NM_153704.6(TMEM67):c.2322+2dup
|
rs386834192
|
0.00001
|
|
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)
|
rs201791586
|
0.00001
|
|
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)
|
rs751309268
|
0.00001
|
|
NM_153704.6(TMEM67):c.312+5G>A
|
rs786200868
|
0.00001
|
|
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)
|
rs775883520
|
0.00001
|
|
NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter)
|
rs786205229
|
0.00001
|
|
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter)
|
rs1171657935
|
0.00001
|
|
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)
|
rs774694340
|
0.00001
|
|
NM_182961.4(SYNE1):c.10768C>T (p.Arg3590Ter)
|
rs606231292
|
0.00001
|
|
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter)
|
rs752224921
|
0.00001
|
|
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter)
|
rs766129413
|
0.00001
|
|
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)
|
rs1300885934
|
0.00001
|
|
NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter)
|
rs781655232
|
0.00001
|
|
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)
|
rs780451185
|
0.00001
|
|
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter)
|
rs763325410
|
0.00001
|
|
NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter)
|
rs780634258
|
0.00001
|
|
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter)
|
rs1174316105
|
0.00001
|
|
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)
|
rs797046025
|
0.00001
|
|
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter)
|
rs750266004
|
0.00001
|
|
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)
|
rs119103243
|
0.00001
|
|
APOB, 1-BP DEL, 4432T
|
|
|
|
APOB, EX21DEL
|
|
|
|
GRCh37/hg19 13q33.1(chr13:102250764-102412039)x1
|
|
|
|
GRCh37/hg19 13q33.1(chr13:102521075-102568995)
|
|
|
|
GRCh37/hg19 13q33.1(chr13:102535482-102815349)x3
|
|
|
|
GRCh37/hg19 1q42.13(chr1:227149087-227149264)
|
|
|
|
GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1
|
|
|
|
GRCh38/hg38 11q22.3(chr11:108358364-108376364)x0
|
|
|
|
GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0
|
|
|
|
NC_000001.10:g.227150977_227195656del44680
|
|
|
|
NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]
|
|
|
|
NC_000001.10:g.6882372_7422115dup
|
|
|
|
NC_000001.10:g.7119268_7200395del
|
|
|
|
NC_000001.9:g.6777038_6826186del
|
|
|
|
NC_000002.11:g.(110881641_110883213)_(110901219_110902069)del
|
|
|
|
NC_000002.11:g.(110881641_110883213)_(110962591_?)del
|
|
|
|
NC_000002.11:g.(?_110880924)_(110917833_110919179)del
|
|
|
|
NC_000002.11:g.(?_110880924)_(110937262_110958997)del
|
|
|
|
NC_000002.11:g.(?_110880924)_(110962591_?)del
|
|
|
|
NC_000002.11:g.(?_202466462)_(202508123_?)del
|
|
|
|
NC_000002.11:g.(?_202501451)_(202633608_?)del
|
|
|
|
NC_000002.11:g.(?_202508062)_(202508123_?)del
|
|
|
|
NC_000002.11:g.(?_219646906)_(219647180_?)del
|
|
|
|
NC_000002.11:g.(?_219646906)_(219738567_?)del
|
|
|
|
NC_000002.11:g.(?_219674280)_(219674510_?)del
|
|
|
|
NC_000002.11:g.(?_219674280)_(219677492_?)del
|
|
|
|
NC_000002.11:g.(?_219674280)_(219679753_?)del
|
|
|
|
NC_000002.12:g.(?_201618900)_(201647825_?)del
|
|
|
|
NC_000002.12:g.(?_218809567)_(218809777_?)del
|
|
|
|
NC_000002.12:g.21004453del
|
rs387906569
|
|
|
NC_000002.12:g.218812223dup
|
|
|
|
NC_000003.12:g.(4480596_4480597)_(4793914_4793915)del
|
|
|
|
NC_000004.11:g.(93511438_94006145)_(94032105_94128554)del
|
|
|
|
NC_000004.11:g.39350045_39350099delinsAAGGG[(400_2000)]
|
|
|
|
NC_000004.12:g.(99601399_99613000)del
|
|
|
|
NC_000004.12:g.39348425AAAGG[10_25]AAGGG[n]
|
|
|
|
NC_000004.12:g.39348425AAGGG[(400_2000)]
|
|
|
|
NC_000004.12:g.39348425AARRG[(400_2000)]
|
|
|
|
NC_000004.12:g.39348425_39348479delinsAAAGG[400_2000]
|
|
|
|
NC_000004.12:g.92491792_92826931del
|
|
|
|
NC_000004.12:g.92559959_92610106del
|
|
|
|
NC_000004.12:g.93013415_93157863del
|
|
|
|
NC_000005.9:g.(?_138356840)_(138386755_?)del
|
|
|
|
NC_000006.11:g.(135732683_135748304)_(135751139_135752345)del
|
|
|
|
NC_000006.11:g.(135732683_135748304)_(135752453_135754164)del
|
|
|
|
NC_000006.11:g.(?_152485278)_(152485480_?)del
|
|
|
|
NC_000006.11:g.(?_152650845)_(152653045_?)del
|
|
|
|
NC_000006.11:g.(?_152949380)_(154441965_?)del
|
|
|
|
NC_000006.12:g.(?_152122416)_(153426916_?)del
|
|
|
|
NC_000008.10:g.(68007968_68015271)_(68062171_68066258)del
|
|
|
|
NC_000008.10:g.(94817107_94821067)_(94821390_94822012)del
|
|
|
|
NC_000008.10:g.(?_67976634)_(68658364_?)del
|
|
|
|
NC_000008.10:g.(?_67998222)_(67998365_?)del
|
|
|
|
NC_000008.10:g.(?_68024187)_(68031076_?)del
|
|
|
|
NC_000008.10:g.(?_68044166)_(68044335_?)del
|
|
|
|
NC_000009.11:g.(?_135171239)_(135187263_?)del
|
|
|
|
NC_000009.11:g.(?_135201691)_(135210134_?)del
|
|
|
|
NC_000009.11:g.(?_135201691)_(135224815_?)del
|
|
|
|
NC_000011.10:g.(?_108221832)_(108370099_?)del
|
|
|
|
NC_000011.10:g.(?_108222832)_(108369099_?)del
|
|
|
|
NC_000011.10:g.(?_108223043)_(108249112_?)del
|
|
|
|
NC_000011.10:g.(?_108227615)_(108229333_?)del
|
|
|
|
NC_000011.10:g.(?_108227615)_(108365518_?)del
|
|
|
|
NC_000011.10:g.(?_108227619)_(108227894_?)del
|
|
|
|
NC_000011.10:g.(?_108227625)_(108245036_?)del
|
|
|
|
NC_000011.10:g.(?_108227625)_(108365508_?)del
|
|
|
|
NC_000011.10:g.(?_108235660)_(108284483_?)del
|
|
|
|
NC_000011.10:g.(?_108243943)_(108365518_?)del
|
|
|
|
NC_000011.10:g.(?_108243953)_(108369099_?)del
|
|
|
|
NC_000011.10:g.(?_108246954)_(108247137_?)del
|
|
|
|
NC_000011.10:g.(?_108248923)_(108249112_?)del
|
|
|
|
NC_000011.10:g.(?_108248923)_(108272862_?)del
|
|
|
|
NC_000011.10:g.(?_108250691)_(108254049_?)del
|
|
|
|
NC_000011.10:g.(?_108250691)_(108257616_?)del
|
|
|
|
NC_000011.10:g.(?_108267161)_(108272862_?)del
|
|
|
|
NC_000011.10:g.(?_108267161)_(108307994_?)del
|
|
|
|
NC_000011.10:g.(?_108267161)_(108354884_?)del
|
|
|
|
NC_000011.10:g.(?_108267161)_(108365518_?)del
|
|
|
|
NC_000011.10:g.(?_108267165)_(108365514_?)del
|
|
|
|
NC_000011.10:g.(?_108279481)_(108281178_?)del
|
|
|
|
NC_000011.10:g.(?_108280985)_(108287725_?)del
|
|
|
|
NC_000011.10:g.(?_108280985)_(108365518_?)del
|
|
|
|
NC_000011.10:g.(?_108280995)_(108289801_?)del
|
|
|
|
NC_000011.10:g.(?_108280995)_(108365509_?)del
|
|
|
|
NC_000011.10:g.(?_108282700)_(108287725_?)del
|
|
|
|
NC_000011.10:g.(?_108289582)_(108289821_?)del
|
|
|
|
NC_000011.10:g.(?_108289592)_(108289811_?)del
|
|
|
|
NC_000011.10:g.(?_108289602)_(108289801_?)del
|
|
|
|
NC_000011.10:g.(?_108292609)_(108293487_?)del
|
|
|
|
NC_000011.10:g.(?_108297287)_(108335961_?)del
|
|
|
|
NC_000011.10:g.(?_108307887)_(108365508_?)del
|
|
|
|
NC_000011.10:g.(?_108317363)_(108317531_?)del
|
|
|
|
NC_000011.10:g.(?_108325300)_(108347375_?)del
|
|
|
|
NC_000011.10:g.(?_108325300)_(108365508_?)del
|
|
|
|
NC_000011.10:g.(?_108325310)_(108369099_?)del
|
|
|
|
NC_000011.10:g.(?_108327635)_(108331567_?)del
|
|
|
|
NC_000011.10:g.(?_108335912)_(108340340_?)del
|
|
|
|
NC_000011.10:g.(?_108343212)_(108365518_?)del
|
|
|
|
NC_000011.10:g.(?_108343222)_(108369099_?)del
|
|
|
|
NC_000011.10:g.(?_108347269)_(108354884_?)del
|
|
|
|
NC_000011.10:g.(?_108353756)_(108354884_?)del
|
|
|
|
NC_000011.10:g.(?_108364109)_(108365518_?)del
|
|
|
|
NC_000011.10:g.(?_108364109)_(108365528_?)del
|
|
|
|
NC_000011.10:g.(?_108365010)_(108365542_?)del
|
|
|
|
NC_000011.10:g.(?_108365072)_(108365508_?)del
|
|
|
|
NC_000011.10:g.(?_108365072)_(108365518_?)del
|
|
|
|
NC_000011.10:g.(?_108365076)_(108365514_?)del
|
|
|
|
NC_000011.10:g.(?_108365082)_(108365508_?)del
|
|
|
|
NC_000011.10:g.108151767_108183227del
|
|
|
|
NC_000011.10:g.108246997_108246998insAlu
|
|
|
|
NC_000011.10:g.108271077_108271078insTTTTTTTTTTTTTTTTTTGANNNNNNNNNNTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTATCTAATGCTTTT
|
rs2135547194
|
|
|
NC_000011.10:g.108272532del
|
rs2135564943
|
|
|
NC_000011.10:g.108304675del
|
|
|
|
NC_000011.9:g.(108129803_108137897)_(108239830_?)del
|
|
|
|
NC_000011.9:g.(?_107829383)_(108179594_?)del
|
|
|
|
NC_000011.9:g.(?_107992314)_108236255del
|
|
|
|
NC_000011.9:g.(?_107992334)_(108206708_?)del
|
|
|
|
NC_000011.9:g.(?_108093770)_(108098625_?)del
|
|
|
|
NC_000011.9:g.(?_108093770)_(108100060_?)del
|
|
|
|
NC_000011.9:g.(?_108093770)_(108114855_?)del
|
|
|
|
NC_000011.9:g.(?_108093770)_(108164214_?)del
|
|
|
|
NC_000011.9:g.(?_108093770)_108128343del
|
|
|
|
NC_000011.9:g.(?_108098171)_(108124564_?)del
|
|
|
|
NC_000011.9:g.(?_108098342)_(108098625_?)del
|
|
|
|
NC_000011.9:g.(?_108098346)_(108138075_?)del
|
|
|
|
NC_000011.9:g.(?_108098346)_(108236241_?)del
|
|
|
|
NC_000011.9:g.(?_108098352)_(108098615_?)del
|
|
|
|
NC_000011.9:g.(?_108098352)_(108100060_?)del
|
|
|
|
NC_000011.9:g.(?_108098352)_(108106571_?)del
|
|
|
|
NC_000011.9:g.(?_108098352)_(108124786_?)del
|
|
|
|
NC_000011.9:g.(?_108098352)_(108128343_?)del
|
|
|
|
NC_000011.9:g.(?_108098352)_(108129822_?)del
|
|
|
|
NC_000011.9:g.(?_108098352)_(108159850_?)del
|
|
|
|
NC_000011.9:g.(?_108098352)_(108164214_?)del
|
|
|
|
NC_000011.9:g.(?_108098352)_(108196972_?)del
|
|
|
|
NC_000011.9:g.(?_108098352)_(108206708_?)del
|
|
|
|
NC_000011.9:g.(?_108098522)_(108105597_?)del
|
|
|
|
NC_000011.9:g.(?_108098539)_(108099937_?)del
|
|
|
|
NC_000011.9:g.(?_108099885)_(108225621_?)del
|
|
|
|
NC_000011.9:g.(?_108101030)_(108121474_?)del
|
|
|
|
NC_000011.9:g.(?_108106377)_(108236235_?)del
|
|
|
|
NC_000011.9:g.(?_108111148)_(108117795_?)del
|
|
|
|
NC_000011.9:g.(?_108113844)_(108175455_?)del
|
|
|
|
NC_000011.9:g.(?_108114660)_(108181062_?)del
|
|
|
|
NC_000011.9:g.(?_108114660)_(108236235_?)del
|
|
|
|
NC_000011.9:g.(?_108114662)_(108114855_?)del
|
|
|
|
NC_000011.9:g.(?_108114662)_(108115763_?)del
|
|
|
|
NC_000011.9:g.(?_108114670)_(108164214_?)del
|
|
|
|
NC_000011.9:g.(?_108117670)_(108118721_?)del
|
|
|
|
NC_000011.9:g.(?_108119640)_(108122778_?)del
|
|
|
|
NC_000011.9:g.(?_108124486)_(108225611_?)del
|
|
|
|
NC_000011.9:g.(?_108137878)_(108236235_?)del
|
|
|
|
NC_000011.9:g.(?_108137888)_(108142143_?)del
|
|
|
|
NC_000011.9:g.(?_108137888)_(108155210_?)del
|
|
|
|
NC_000011.9:g.(?_108137888)_(108196962_?)del
|
|
|
|
NC_000011.9:g.(?_108137888)_(108218102_?)del
|
|
|
|
NC_000011.9:g.(?_108137888)_(108225611_?)dup
|
|
|
|
NC_000011.9:g.(?_108141210)_(108143589_?)del
|
|
|
|
NC_000011.9:g.(?_108141781)_(108158452_?)del
|
|
|
|
NC_000011.9:g.(?_108141781)_(108236235_?)del
|
|
|
|
NC_000011.9:g.(?_108142107)_(108149132_?)del
|
|
|
|
NC_000011.9:g.(?_108150212)_(108216641_?)del
|
|
|
|
NC_000011.9:g.(?_108151710)_(108160538_?)del
|
|
|
|
NC_000011.9:g.(?_108151712)_(108183245_?)del
|
|
|
|
NC_000011.9:g.(?_108151712)_(108236288_?)del
|
|
|
|
NC_000011.9:g.(?_108153427)_(108160538_?)del
|
|
|
|
NC_000011.9:g.(?_108153427)_(108236235_?)del
|
|
|
|
NC_000011.9:g.(?_108154944)_(108155210_?)del
|
|
|
|
NC_000011.9:g.(?_108155171)_(108204924_?)del
|
|
|
|
NC_000011.9:g.(?_108156908)_(108160358_?)del
|
|
|
|
NC_000011.9:g.(?_108156908)_108160358del
|
|
|
|
NC_000011.9:g.(?_108156909)_(108160359_?)del
|
|
|
|
NC_000011.9:g.(?_108158168)_(108158452_?)del
|
|
|
|
NC_000011.9:g.(?_108158168)_(108160538_?)del
|
|
|
|
NC_000011.9:g.(?_108158168)_(108165796_?)del
|
|
|
|
NC_000011.9:g.(?_108158168)_(108218112_?)del
|
|
|
|
NC_000011.9:g.(?_108163326)_(108168129_?)del
|
|
|
|
NC_000011.9:g.(?_108163336)_(108165796_?)del
|
|
|
|
NC_000011.9:g.(?_108164020)_(108236235_?)del
|
|
|
|
NC_000011.9:g.(?_108168008)_(108206694_?)del
|
|
|
|
NC_000011.9:g.(?_108170431)_(108170622_?)del
|
|
|
|
NC_000011.9:g.(?_108170431)_(108206698_?)del
|
|
|
|
NC_000011.9:g.(?_108170564)_(108179827_?)del
|
|
|
|
NC_000011.9:g.(?_108172365)_(108175589_?)del
|
|
|
|
NC_000011.9:g.(?_108173570)_(108175589_?)del
|
|
|
|
NC_000011.9:g.(?_108178604)_(108192167_?)del
|
|
|
|
NC_000011.9:g.(?_108178614)_(108178721_?)del
|
|
|
|
NC_000011.9:g.(?_108178614)_(108188258_?)del
|
|
|
|
NC_000011.9:g.(?_108178618)_(108236241_?)del
|
|
|
|
NC_000011.9:g.(?_108180877)_(108181052_?)del
|
|
|
|
NC_000011.9:g.(?_108183089)_(108186850_?)del
|
|
|
|
NC_000011.9:g.(?_108186540)_(108188258_?)del
|
|
|
|
NC_000011.9:g.(?_108186540)_(108196281_?)del
|
|
|
|
NC_000011.9:g.(?_108186540)_(108196962_?)del
|
|
|
|
NC_000011.9:g.(?_108186540)_(108218102_?)del
|
|
|
|
NC_000011.9:g.(?_108190671)_(108225611_?)del
|
|
|
|
NC_000011.9:g.(?_108190675)_(108190791_?)del
|
|
|
|
NC_000011.9:g.(?_108196027)_(108196281_?)del
|
|
|
|
NC_000011.9:g.(?_108196125)_(108281972_?)del
|
|
|
|
NC_000011.9:g.(?_108199738)_(108203637_?)del
|
|
|
|
NC_000011.9:g.(?_108200931)_(108236235_?)del
|
|
|
|
NC_000011.9:g.(?_108204603)_(108204705_?)del
|
|
|
|
NC_000011.9:g.(?_108206562)_(108206698_?)del
|
|
|
|
NC_000011.9:g.(?_108213939)_(108218102_?)del
|
|
|
|
NC_000011.9:g.(?_108213939)_(108236235_?)del
|
|
|
|
NC_000011.9:g.(?_108215207)_(108216339_?)del
|
|
|
|
NC_000011.9:g.(?_108216450)_(108236235_?)del
|
|
|
|
NC_000011.9:g.(?_108216460)_(108218102_?)del
|
|
|
|
NC_000011.9:g.(?_108224473)_(108332286_?)del
|
|
|
|
NC_000011.9:g.(?_108225528)_(108225611_?)del
|
|
|
|
NC_000011.9:g.(?_108225592)_(108229424_?)del
|
|
|
|
NC_000011.9:g.(?_108235810)_108237715del
|
|
|
|
NC_000011.9:g.(?_61133497)_(61133708_?)del
|
|
|
|
NC_000011.9:g.(?_94153285)_(111965700_?)del
|
|
|
|
NC_000011.9:g.108163403_108163404insLINE
|
|
|
|
NC_000014.8:g.(?_58711639)_(59014694_?)del
|
|
|
|
NC_000014.8:g.(?_58924457)_(58927898_?)del
|
|
|
|
NC_000014.8:g.(?_58926541)_(58927898_?)del
|
|
|
|
NC_000014.8:g.(?_58938897)_(58941535_?)del
|
|
|
|
NC_000014.8:g.(?_58975253)_(58975447_?)del
|
|
|
|
NC_000014.9:g.(?_58443934)_(58450766_?)del
|
|
|
|
NC_000016.10:g.(?_75539974)_(75545515_?)del
|
|
|
|
NC_000016.10:g.(?_78099759)_(78099909_?)del
|
|
|
|
NC_000016.10:g.(?_78099759)_(78115174_?)del
|
|
|
|
NC_000016.10:g.(?_78099759)_(78432772_?)del
|
|
|
|
NC_000016.10:g.(?_78164163)_(78164309_?)del
|
|
|
|
NC_000016.10:g.(?_78278583)_(78386968_?)del
|
|
|
|
NC_000016.10:g.(?_78386840)_(78386968_?)del
|
|
|
|
NC_000016.10:g.(?_78386840)_(78432772_?)del
|
|
|
|
NC_000016.10:g.(?_78424850)_(78425075_?)del
|
|
|
|
NC_000016.10:g.(?_78424850)_(78432772_?)del
|
|
|
|
NC_000016.10:g.(?_79211588)_(79211816_?)del
|
|
|
|
NC_000016.9:g.(?_75490611)_(75576599_?)del
|
|
|
|
NC_000016.9:g.(?_75512539)_(75576601_?)del
|
|
|
|
NC_000016.9:g.(?_75573892)_(75575373_?)del
|
|
|
|
NC_000016.9:g.(?_75573892)_(75579413_?)del
|
|
|
|
NC_000016.9:g.(?_75573892)_(75690509_?)del
|
|
|
|
NC_000016.9:g.(?_75579704)_(75579872_?)del
|
|
|
|
NC_000016.9:g.(?_75589682)_(75590169_?)del
|
|
|
|
NC_000016.9:g.(?_78133671)_(78149061_?)del
|
|
|
|
NC_000016.9:g.(?_78133676)_(78149071_?)del
|
|
|
|
NC_000016.9:g.(?_78133676)_(79633799_?)del
|
|
|
|
NC_000016.9:g.(?_78142300)_(78198206_?)del
|
|
|
|
NC_000016.9:g.(?_78142310)_(78142394_?)del
|
|
|
|
NC_000016.9:g.(?_78148853)_(78149071_?)del
|
|
|
|
NC_000016.9:g.(?_78148853)_(78198206_?)del
|
|
|
|
NC_000016.9:g.(?_78352643)_(78420837_?)dup
|
|
|
|
NC_000016.9:g.(?_78420737)_(78458972_?)del
|
|
|
|
NC_000016.9:g.(?_78420737)_(81991603_?)del
|
|
|
|
NC_000016.9:g.(?_78420747)_(78458962_?)del
|
|
|
|
NC_000016.9:g.(?_78420747)_(78466659_?)del
|
|
|
|
NC_000016.9:g.(?_78458747)_(79245693_?)del
|
|
|
|
NC_000016.9:g.78179358_78219143delins[78185355_78199419inv]
|
|
|
|
NC_000019.10:g.40394766del
|
rs1317590341
|
|
|
NC_012920.1(MT-ATP6):m.8993T>G
|
rs199476133
|
|
|
NC_012920.1(MT-TE):m.14724G>A
|
rs1603224846
|
|
|
NG_008047.1:g.17267CAG[(54-68)]
|
|
|
|
NG_008165.1:g.12526CAR[46_?]
|
|
|
|
NG_008227.1:g.53130CAG[38_130]
|
|
|
|
NG_008317.3(FGF14):g.245719CTT[349]
|
|
|
|
NG_008317.3:g.245717TTC[250_?]
|
|
|
|
NG_008845.2:g.6725GAA[(200_900)]
|
|
|
|
NG_009830.1:g.(41245_49339)_(137044_147250)dup
|
|
|
|
NG_012741.1:g.(?_5001)_(37693_?)del
|
|
|
|
NG_021403.2:g.68486_68487insN[2500_3800]
|
|
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
|
NM_000051.3(ATM):c.2839-?_4109+?del
|
|
|
|
NM_000051.3(ATM):c.5902_5903insSVAelement
|
rs2084039379
|
|
|
NM_000051.3(ATM):c.6007dup
|
rs1555113505
|
|
|
NM_000051.3(ATM):c.8269-?_8671+?del
|
|
|
|
NM_000051.3(ATM):c.8269del
|
rs1555135341
|
|
|
NM_000051.3:c.8844_8845insLINE1
|
|
|
|
NM_000051.4(ATM):c.1000_1001insA (p.Ser334fs)
|
|
|
|
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)
|
|
|
|
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)
|
rs1555068471
|
|
|
NM_000051.4(ATM):c.1008del (p.Arg337fs)
|
rs2079886452
|
|
|
NM_000051.4(ATM):c.1017del (p.Ile339fs)
|
rs1469427343
|
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
|
NM_000051.4(ATM):c.1036del (p.Ile346fs)
|
rs1565375710
|
|
|
NM_000051.4(ATM):c.1037_1040del (p.Ile346fs)
|
rs2135268548
|
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
|
NM_000051.4(ATM):c.1044_1045del (p.Leu348fs)
|
rs2079890365
|
|
|
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)
|
rs1565375817
|
|
|
NM_000051.4(ATM):c.1053dup (p.Ile352fs)
|
rs587781984
|
|
|
NM_000051.4(ATM):c.1054_1055del (p.Ile352fs)
|
|
|
|
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.1065+1G>A
|
rs201089102
|
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
|
NM_000051.4(ATM):c.1065+2T>C
|
|
|
|
NM_000051.4(ATM):c.1066-2A>G
|
|
|
|
NM_000051.4(ATM):c.1066-2A>T
|
rs1555069514
|
|
|
NM_000051.4(ATM):c.1068_1235+2del
|
|
|
|
NM_000051.4(ATM):c.1073dup (p.Asn358fs)
|
rs1591517182
|
|
|
NM_000051.4(ATM):c.1078del (p.Asp360fs)
|
rs2135290302
|
|
|
NM_000051.4(ATM):c.1089del (p.Leu364fs)
|
|
|
|
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter)
|
rs1555069577
|
|
|
NM_000051.4(ATM):c.1099del (p.Ser367fs)
|
|
|
|
NM_000051.4(ATM):c.1108dup (p.Tyr370fs)
|
|
|
|
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)
|
rs1555069617
|
|
|
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)
|
rs376170600
|
|
|
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.1111_1115del (p.Thr371fs)
|
|
|
|
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.1124del (p.Arg375fs)
|
rs1555069653
|
|
|
NM_000051.4(ATM):c.1126G>T (p.Glu376Ter)
|
rs1555069657
|
|
|
NM_000051.4(ATM):c.1136del (p.Asp379fs)
|
|
|
|
NM_000051.4(ATM):c.1140_1141del (p.Tyr380_Ser381delinsTer)
|
rs1555069677
|
|
|
NM_000051.4(ATM):c.1151dup (p.Cys384fs)
|
rs2079995970
|
|
|
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.1179G>A (p.Trp393Ter)
|
rs876658567
|
|
|
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
|
rs876659450
|
|
|
NM_000051.4(ATM):c.1189A>T (p.Lys397Ter)
|
rs2079999064
|
|
|
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs)
|
rs2079998938
|
|
|
NM_000051.4(ATM):c.1191del (p.Asp398fs)
|
|
|
|
NM_000051.4(ATM):c.119_122del (p.Ile40fs)
|
rs876659116
|
|
|
NM_000051.4(ATM):c.1204A>T (p.Lys402Ter)
|
|
|
|
NM_000051.4(ATM):c.1210C>T (p.Gln404Ter)
|
rs730881340
|
|
|
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer)
|
rs1060501609
|
|
|
NM_000051.4(ATM):c.1214del (p.Asn405fs)
|
rs2080001212
|
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
|
NM_000051.4(ATM):c.1221dup (p.Asp408Ter)
|
rs1064792998
|
|
|
NM_000051.4(ATM):c.122_123del (p.Lys41fs)
|
|
|
|
NM_000051.4(ATM):c.1235+4_1235+5del
|
rs770033355
|
|
|
NM_000051.4(ATM):c.1236-1G>A
|
rs1408719214
|
|
|
NM_000051.4(ATM):c.1236-1G>C
|
rs1408719214
|
|
|
NM_000051.4(ATM):c.1236-1G>T
|
rs1408719214
|
|
|
NM_000051.4(ATM):c.1236-2A>G
|
rs80159221
|
|
|
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter)
|
rs866521873
|
|
|
NM_000051.4(ATM):c.1249del (p.Thr417fs)
|
rs786203166
|
|
|
NM_000051.4(ATM):c.1254_1258del (p.Gln418fs)
|
rs2135316258
|
|
|
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.1276del (p.Ser426fs)
|
rs2135316980
|
|
|
NM_000051.4(ATM):c.1280T>A (p.Leu427Ter)
|
rs2135317116
|
|
|
NM_000051.4(ATM):c.1284_1291del (p.Asn429fs)
|
rs863224460
|
|
|
NM_000051.4(ATM):c.1285_1288del (p.Asn429fs)
|
rs1555070694
|
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
|
NM_000051.4(ATM):c.1304T>G (p.Leu435Ter)
|
rs1565382166
|
|
|
NM_000051.4(ATM):c.1305del (p.Leu435fs)
|
rs1555070719
|
|
|
NM_000051.4(ATM):c.1320_1321del (p.Gln441fs)
|
rs1555070745
|
|
|
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)
|
rs1565382267
|
|
|
NM_000051.4(ATM):c.1333C>T (p.Gln445Ter)
|
rs2080097197
|
|
|
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.135dup (p.His46fs)
|
rs1591447147
|
|
|
NM_000051.4(ATM):c.1362T>A (p.Tyr454Ter)
|
|
|
|
NM_000051.4(ATM):c.1368dup (p.Arg457fs)
|
rs1565382593
|
|
|
NM_000051.4(ATM):c.1378dup (p.Thr460fs)
|
rs2080101851
|
|
|
NM_000051.4(ATM):c.138_141del (p.His46fs)
|
rs786203370
|
|
|
NM_000051.4(ATM):c.1391_1395del (p.Leu464fs)
|
rs2080103035
|
|
|
NM_000051.4(ATM):c.1406_1413del (p.Arg469fs)
|
rs2135321724
|
|
|
NM_000051.4(ATM):c.1408_1423del (p.Ser470fs)
|
rs2080104347
|
|
|
NM_000051.4(ATM):c.1409C>G (p.Ser470Ter)
|
rs1591523878
|
|
|
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.1426C>T (p.Gln476Ter)
|
|
|
|
NM_000051.4(ATM):c.1433C>A (p.Ser478Ter)
|
rs2080106350
|
|
|
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs)
|
rs1555070947
|
|
|
NM_000051.4(ATM):c.1438_1442del (p.Leu480fs)
|
|
|
|
NM_000051.4(ATM):c.1446del (p.Lys482fs)
|
rs1060501670
|
|
|
NM_000051.4(ATM):c.1459del (p.Ile487fs)
|
|
|
|
NM_000051.4(ATM):c.145del (p.Ser49fs)
|
|
|
|
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)
|
rs377597949
|
|
|
NM_000051.4(ATM):c.1466_1467del (p.Cys489fs)
|
rs2080108960
|
|
|
NM_000051.4(ATM):c.1467dup (p.Ile490fs)
|
rs1555071002
|
|
|
NM_000051.4(ATM):c.1471dup (p.Thr491fs)
|
rs2080109832
|
|
|
NM_000051.4(ATM):c.1473_1474dup (p.Phe492fs)
|
|
|
|
NM_000051.4(ATM):c.1479del (p.Gly494fs)
|
|
|
|
NM_000051.4(ATM):c.1483dup (p.Ile495fs)
|
rs2135324290
|
|
|
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs)
|
|
|
|
NM_000051.4(ATM):c.1491del (p.Glu498fs)
|
rs2135324604
|
|
|
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter)
|
rs1555071075
|
|
|
NM_000051.4(ATM):c.1495dup (p.Gln499fs)
|
|
|
|
NM_000051.4(ATM):c.1499_1515del (p.Ile500fs)
|
|
|
|
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter)
|
rs1281817400
|
|
|
NM_000051.4(ATM):c.1514_1515del (p.Phe505fs)
|
rs1060501529
|
|
|
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.1520_1524del (p.Leu507fs)
|
rs2080114187
|
|
|
NM_000051.4(ATM):c.1524del (p.Gly509fs)
|
rs786204737
|
|
|
NM_000051.4(ATM):c.1530del (p.Ala510_Ile511insTer)
|
rs2080115284
|
|
|
NM_000051.4(ATM):c.1537C>T (p.Gln513Ter)
|
rs865985297
|
|
|
NM_000051.4(ATM):c.1547T>A (p.Leu516Ter)
|
rs786202195
|
|
|
NM_000051.4(ATM):c.1547_1551del (p.Ser515_Leu516insTer)
|
|
|
|
NM_000051.4(ATM):c.1552G>T (p.Glu518Ter)
|
|
|
|
NM_000051.4(ATM):c.1564G>T (p.Glu522Ter)
|
rs2080118610
|
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
|
NM_000051.4(ATM):c.1571G>A (p.Trp524Ter)
|
rs2080119161
|
|
|
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)
|
|
|
|
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter)
|
rs1565383766
|
|
|
NM_000051.4(ATM):c.1578_1579insAA (p.Phe527fs)
|
|
|
|
NM_000051.4(ATM):c.157A>T (p.Lys53Ter)
|
rs876659078
|
|
|
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs)
|
rs1131691166
|
|
|
NM_000051.4(ATM):c.15dup (p.Asn6Ter)
|
rs876660842
|
|
|
NM_000051.4(ATM):c.1607+162A>G
|
|
|
|
NM_000051.4(ATM):c.1607+1G>A
|
rs772926890
|
|
|
NM_000051.4(ATM):c.1607+2T>C
|
|
|
|
NM_000051.4(ATM):c.1608T>A (p.Cys536Ter)
|
|
|
|
NM_000051.4(ATM):c.1614_1645del (p.Val539fs)
|
rs2135338847
|
|
|
NM_000051.4(ATM):c.1625del (p.Cys541_Leu542insTer)
|
rs2080164484
|
|
|
NM_000051.4(ATM):c.1635dup (p.Leu546fs)
|
rs2135339476
|
|
|
NM_000051.4(ATM):c.164del (p.Tyr54_Leu55insTer)
|
|
|
|
NM_000051.4(ATM):c.1653del (p.Pro552fs)
|
rs2080167483
|
|
|
NM_000051.4(ATM):c.1655del (p.Pro552fs)
|
rs1057516876
|
|
|
NM_000051.4(ATM):c.1658del (p.Gly553fs)
|
rs1064796556
|
|
|
NM_000051.4(ATM):c.1660del (p.Thr554fs)
|
rs876658572
|
|
|
NM_000051.4(ATM):c.1663_1669del (p.Val555fs)
|
|
|
|
NM_000051.4(ATM):c.1685del (p.Asn562fs)
|
|
|
|
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)
|
rs886039644
|
|
|
NM_000051.4(ATM):c.1692_1693del (p.Cys564_Glu565delinsTer)
|
rs2080171293
|
|
|
NM_000051.4(ATM):c.1695del (p.Glu565_Val566insTer)
|
rs2135341489
|
|
|
NM_000051.4(ATM):c.1702A>T (p.Arg568Ter)
|
rs876659425
|
|
|
NM_000051.4(ATM):c.1715_1716insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCTTTCTTT (p.Ser571_Leu572insPhePhePhePhePhePhePheXaaXaaXaaXaaTyrMetCysHisAlaGlyAlaLeuHisProLeuMetCysHisLeuAlaLeuGlyIleSerProAsnAlaIleLeuSer)
|
|
|
|
NM_000051.4(ATM):c.1724C>A (p.Ser575Ter)
|
rs2135342200
|
|
|
NM_000051.4(ATM):c.1724C>G (p.Ser575Ter)
|
|
|
|
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)
|
rs876660661
|
|
|
NM_000051.4(ATM):c.172del (p.Asp58fs)
|
rs1555054243
|
|
|
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.1741_1742del (p.Leu581fs)
|
rs1057516721
|
|
|
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs)
|
rs1565385883
|
|
|
NM_000051.4(ATM):c.1750C>T (p.Gln584Ter)
|
rs2080176523
|
|
|
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)
|
rs1555072008
|
|
|
NM_000051.4(ATM):c.1754dup (p.Leu585fs)
|
rs1555072012
|
|
|
NM_000051.4(ATM):c.1762del (p.Asp588fs)
|
rs2135343498
|
|
|
NM_000051.4(ATM):c.1772dup (p.Asn591fs)
|
rs1591528248
|
|
|
NM_000051.4(ATM):c.177del (p.Val60fs)
|
|
|
|
NM_000051.4(ATM):c.1780G>T (p.Glu594Ter)
|
rs2080178937
|
|
|
NM_000051.4(ATM):c.1780_1781del (p.Glu594fs)
|
|
|
|
NM_000051.4(ATM):c.1784_1785del (p.Val595fs)
|
|
|
|
NM_000051.4(ATM):c.17_20del (p.Asn6fs)
|
|
|
|
NM_000051.4(ATM):c.17dup (p.Asn6fs)
|
rs2135004405
|
|
|
NM_000051.4(ATM):c.1800del (p.His600fs)
|
|
|
|
NM_000051.4(ATM):c.1802+1G>A
|
|
|
|
NM_000051.4(ATM):c.1802+1G>T
|
rs2135344665
|
|
|
NM_000051.4(ATM):c.1803-270T>G
|
|
|
|
NM_000051.4(ATM):c.1804_1808dup (p.Phe603fs)
|
|
|
|
NM_000051.4(ATM):c.1838_1839del (p.Val613fs)
|
rs1591530854
|
|
|
NM_000051.4(ATM):c.1838del (p.Val613fs)
|
rs2135353661
|
|
|
NM_000051.4(ATM):c.1838dup (p.Ser614fs)
|
rs1555072492
|
|
|
NM_000051.4(ATM):c.1839_1842del (p.Leu615_Thr616insTer)
|
rs1555072480
|
|
|
NM_000051.4(ATM):c.183del (p.Phe61fs)
|
rs2135014976
|
|
|
NM_000051.4(ATM):c.1840_1841del (p.Leu615fs)
|
rs2135353714
|
|
|
NM_000051.4(ATM):c.1845_1848dup (p.Met617fs)
|
rs2080229346
|
|
|
NM_000051.4(ATM):c.1857del (p.Cys620fs)
|
rs2135354155
|
|
|
NM_000051.4(ATM):c.1858del (p.Cys620fs)
|
rs1565387848
|
|
|
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer)
|
rs2080230745
|
|
|
NM_000051.4(ATM):c.1880dup (p.Gln628fs)
|
rs786202474
|
|
|
NM_000051.4(ATM):c.1882C>T (p.Gln628Ter)
|
rs2135354813
|
|
|
NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)
|
|
|
|
NM_000051.4(ATM):c.1898+1G>A
|
rs758325274
|
|
|
NM_000051.4(ATM):c.1898+1G>T
|
rs758325274
|
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
|
NM_000051.4(ATM):c.1899-1G>A
|
rs1555073065
|
|
|
NM_000051.4(ATM):c.1899-1G>T
|
rs1555073065
|
|
|
NM_000051.4(ATM):c.1899-2A>C
|
|
|
|
NM_000051.4(ATM):c.1906del (p.His636fs)
|
|
|
|
NM_000051.4(ATM):c.1909C>T (p.Gln637Ter)
|
|
|
|
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer)
|
rs864622415
|
|
|
NM_000051.4(ATM):c.1914del (p.Asp639fs)
|
rs2080292910
|
|
|
NM_000051.4(ATM):c.1914dup (p.Asp639fs)
|
rs2080292910
|
|
|
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)
|
rs879254190
|
|
|
NM_000051.4(ATM):c.191T>G (p.Leu64Ter)
|
rs1591451354
|
|
|
NM_000051.4(ATM):c.191dup (p.Leu64fs)
|
|
|
|
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)
|
rs1555073111
|
|
|
NM_000051.4(ATM):c.1920dup (p.Glu641fs)
|
rs2080294213
|
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
|
NM_000051.4(ATM):c.1930del (p.Ser644fs)
|
|
|
|
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)
|
rs768362387
|
|
|
NM_000051.4(ATM):c.1931C>G (p.Ser644Ter)
|
rs768362387
|
|
|
NM_000051.4(ATM):c.1937C>A (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.1948G>T (p.Glu650Ter)
|
|
|
|
NM_000051.4(ATM):c.1956_1959del (p.Leu653fs)
|
|
|
|
NM_000051.4(ATM):c.1966del (p.Thr656fs)
|
rs2135367757
|
|
|
NM_000051.4(ATM):c.1968_1977del (p.Phe657fs)
|
|
|
|
NM_000051.4(ATM):c.196A>T (p.Lys66Ter)
|
rs1565346656
|
|
|
NM_000051.4(ATM):c.1978del (p.Met660fs)
|
|
|
|
NM_000051.4(ATM):c.1988T>A (p.Leu663Ter)
|
|
|
|
NM_000051.4(ATM):c.1988dup (p.Leu663fs)
|
|
|
|
NM_000051.4(ATM):c.198dup (p.Tyr67fs)
|
rs2135033137
|
|
|
NM_000051.4(ATM):c.1992dup (p.Ile665fs)
|
rs2135368545
|
|
|
NM_000051.4(ATM):c.1995del (p.Ile665fs)
|
rs1591534382
|
|
|
NM_000051.4(ATM):c.1997del (p.Val666fs)
|
rs2080303837
|
|
|
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.2019del (p.Lys673fs)
|
rs1591534511
|
|
|
NM_000051.4(ATM):c.2023del (p.Gln675fs)
|
|
|
|
NM_000051.4(ATM):c.2032del (p.Ile678fs)
|
rs2135369537
|
|
|
NM_000051.4(ATM):c.2044_2057del (p.Val682fs)
|
rs2135369731
|
|
|
NM_000051.4(ATM):c.2059_2065del (p.Lys687fs)
|
|
|
|
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter)
|
rs769338089
|
|
|
NM_000051.4(ATM):c.2064del (p.Glu688fs)
|
|
|
|
NM_000051.4(ATM):c.2086G>T (p.Gly696Ter)
|
rs879254178
|
|
|
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter)
|
rs1591534936
|
|
|
NM_000051.4(ATM):c.2093C>G (p.Ser698Ter)
|
rs2135371158
|
|
|
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)
|
rs786202743
|
|
|
NM_000051.4(ATM):c.2111_2114del (p.Asn704fs)
|
rs2080316641
|
|
|
NM_000051.4(ATM):c.2113_2116del (p.Tyr705fs)
|
rs2135371753
|
|
|
NM_000051.4(ATM):c.2113del (p.Tyr705fs)
|
rs863224822
|
|
|
NM_000051.4(ATM):c.2114dup (p.Tyr705Ter)
|
rs2080317430
|
|
|
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)
|
rs876659149
|
|
|
NM_000051.4(ATM):c.2116_2117del (p.Ser706fs)
|
rs1591535064
|
|
|
NM_000051.4(ATM):c.2119_2123del (p.Ser707fs)
|
rs1555073529
|
|
|
NM_000051.4(ATM):c.2125del (p.Ile709fs)
|
rs1057517248
|
|
|
NM_000051.4(ATM):c.2134del (p.Ser712fs)
|
rs1591541888
|
|
|
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
|
|
|
|
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)
|
rs1057516620
|
|
|
NM_000051.4(ATM):c.2140del (p.Thr714fs)
|
rs2080473458
|
|
|
NM_000051.4(ATM):c.2152dup (p.Cys718fs)
|
rs2135392702
|
|
|
NM_000051.4(ATM):c.215del (p.Thr72fs)
|
|
|
|
NM_000051.4(ATM):c.2165del (p.Leu722fs)
|
|
|
|
NM_000051.4(ATM):c.2165dup (p.Leu722fs)
|
rs1057516393
|
|
|
NM_000051.4(ATM):c.2170_2200del (p.Val723_Gly724insTer)
|
|
|
|
NM_000051.4(ATM):c.217_218del (p.Glu73fs)
|
rs762089971
|
|
|
NM_000051.4(ATM):c.217del (p.Glu73fs)
|
|
|
|
NM_000051.4(ATM):c.2186del (p.Tyr729fs)
|
|
|
|
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)
|
rs1478081526
|
|
|
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)
|
rs2229019
|
|
|
NM_000051.4(ATM):c.2193del (p.Cys730_Tyr731insTer)
|
rs2080479088
|
|
|
NM_000051.4(ATM):c.2195dup (p.Met732fs)
|
rs1555074971
|
|
|
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)
|
rs1555074976
|
|
|
NM_000051.4(ATM):c.2200dup (p.Val734fs)
|
|
|
|
NM_000051.4(ATM):c.2201_2202insC (p.Ile735fs)
|
rs1459299108
|
|
|
NM_000051.4(ATM):c.2205_2208del (p.Ile735fs)
|
rs2135394014
|
|
|
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter)
|
rs1057524111
|
|
|
NM_000051.4(ATM):c.2228C>G (p.Ser743Ter)
|
rs2080482247
|
|
|
NM_000051.4(ATM):c.2239C>T (p.Gln747Ter)
|
rs2080483369
|
|
|
NM_000051.4(ATM):c.2247del (p.Lys750fs)
|
|
|
|
NM_000051.4(ATM):c.2250+1G>A
|
rs1565395193
|
|
|
NM_000051.4(ATM):c.2250+2T>C
|
rs1555075037
|
|
|
NM_000051.4(ATM):c.2251-1G>C
|
rs876659710
|
|
|
NM_000051.4(ATM):c.2251-2A>G
|
rs2135405559
|
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
|
NM_000051.4(ATM):c.2255dup (p.Met753fs)
|
rs1565396965
|
|
|
NM_000051.4(ATM):c.2260C>T (p.Gln754Ter)
|
|
|
|
NM_000051.4(ATM):c.2262del (p.Gln754fs)
|
rs2080573967
|
|
|
NM_000051.4(ATM):c.2270del (p.Gly757fs)
|
rs1565397022
|
|
|
NM_000051.4(ATM):c.2272G>T (p.Glu758Ter)
|
rs1555075658
|
|
|
NM_000051.4(ATM):c.2277dup (p.Ile760fs)
|
|
|
|
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.2289_2295del (p.Phe763fs)
|
rs1555075690
|
|
|
NM_000051.4(ATM):c.2295del (p.Asn765fs)
|
rs876658583
|
|
|
NM_000051.4(ATM):c.229dup (p.Ile77fs)
|
rs1565346867
|
|
|
NM_000051.4(ATM):c.2301_2304del (p.Asn768fs)
|
rs1565397179
|
|
|
NM_000051.4(ATM):c.2304_2305insTT (p.Glu769fs)
|
rs2080577927
|
|
|
NM_000051.4(ATM):c.2308G>T (p.Glu770Ter)
|
rs1555075721
|
|
|
NM_000051.4(ATM):c.2329A>T (p.Arg777Ter)
|
rs1565397263
|
|
|
NM_000051.4(ATM):c.2341C>T (p.Gln781Ter)
|
rs1555075781
|
|
|
NM_000051.4(ATM):c.2345dup (p.Cys783fs)
|
rs1591546645
|
|
|
NM_000051.4(ATM):c.2351del (p.Thr784fs)
|
|
|
|
NM_000051.4(ATM):c.2363_2364del (p.Ser788fs)
|
rs2080584788
|
|
|
NM_000051.4(ATM):c.2371del (p.Thr791fs)
|
|
|
|
NM_000051.4(ATM):c.2376+1G>A
|
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.2400del (p.Gly801fs)
|
|
|
|
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs)
|
rs2135421164
|
|
|
NM_000051.4(ATM):c.2408del (p.Phe803fs)
|
|
|
|
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)
|
rs730881348
|
|
|
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
|
|
|
|
NM_000051.4(ATM):c.2426del (p.Thr808_Ser809insTer)
|
rs2135421629
|
|
|
NM_000051.4(ATM):c.2429del (p.Lys810fs)
|
|
|
|
NM_000051.4(ATM):c.2432del (p.Leu811fs)
|
rs2135421772
|
|
|
NM_000051.4(ATM):c.2438del (p.Asn813fs)
|
rs2135421887
|
|
|
NM_000051.4(ATM):c.2441del (p.Asp814fs)
|
rs1565400045
|
|
|
NM_000051.4(ATM):c.2462del (p.Ser821fs)
|
rs2080701610
|
|
|
NM_000051.4(ATM):c.2464_2465dup (p.Leu822fs)
|
rs2135422402
|
|
|
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.2465dup (p.Leu822fs)
|
|
|
|
NM_000051.4(ATM):c.2466+1G>A
|
rs914092098
|
|
|
NM_000051.4(ATM):c.2466+1del
|
rs786202783
|
|
|
NM_000051.4(ATM):c.2466+651_2466+1553delinsGGG
|
|
|
|
NM_000051.4(ATM):c.2482A>T (p.Lys828Ter)
|
|
|
|
NM_000051.4(ATM):c.2483del (p.Lys828fs)
|
rs1064794234
|
|
|
NM_000051.4(ATM):c.2484del (p.Lys828fs)
|
|
|
|
NM_000051.4(ATM):c.2487dup (p.Phe830fs)
|
rs2135505571
|
|
|
NM_000051.4(ATM):c.248del (p.Val82_Ser83insTer)
|
rs2135035121
|
|
|
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.2502del (p.Glu834_Val835insTer)
|
|
|
|
NM_000051.4(ATM):c.2502dup (p.Val835fs)
|
rs587779822
|
|
|
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer)
|
rs2081303007
|
|
|
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.2548G>T (p.Glu850Ter)
|
rs587782280
|
|
|
NM_000051.4(ATM):c.2553_2638+61del
|
rs2135507457
|
|
|
NM_000051.4(ATM):c.2554dup (p.Gln852fs)
|
|
|
|
NM_000051.4(ATM):c.2564dup (p.Met855fs)
|
rs730881299
|
|
|
NM_000051.4(ATM):c.2566_2569dup (p.Leu857fs)
|
rs2135507893
|
|
|
NM_000051.4(ATM):c.2567dup (p.Asn856fs)
|
|
|
|
NM_000051.4(ATM):c.2571_2572del (p.Leu857_Phe858insTer)
|
rs1555082257
|
|
|
NM_000051.4(ATM):c.2572_2573insGGATCAGTCATCCATGAATCTATTTAACGAAGTGGAAATCTAATGGAGGTGGAGGATCAGTCATCCATGAATCTAT (p.Phe858delinsTrpIleSerHisProTer)
|
|
|
|
NM_000051.4(ATM):c.2572_2575del (p.Phe858fs)
|
rs1131691148
|
|
|
NM_000051.4(ATM):c.2574dup (p.Asn859Ter)
|
rs587778068
|
|
|
NM_000051.4(ATM):c.2579del (p.Asp860fs)
|
|
|
|
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter)
|
rs886039633
|
|
|
NM_000051.4(ATM):c.2583C>G (p.Tyr861Ter)
|
|
|
|
NM_000051.4(ATM):c.2585del (p.Pro862fs)
|
|
|
|
NM_000051.4(ATM):c.2601_2602dup (p.Asp868fs)
|
rs2135508789
|
|
|
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs)
|
rs1057516944
|
|
|
NM_000051.4(ATM):c.2613dup (p.Pro872fs)
|
rs1591588646
|
|
|
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)
|
rs1565416901
|
|
|
NM_000051.4(ATM):c.2626C>T (p.Gln876Ter)
|
rs2135509419
|
|
|
NM_000051.4(ATM):c.2638+1G>T
|
rs2135509713
|
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
|
NM_000051.4(ATM):c.2638+304C>A
|
|
|
|
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.2643dup (p.Ile882fs)
|
|
|
|
NM_000051.4(ATM):c.2654T>G (p.Leu885Ter)
|
rs1555083096
|
|
|
NM_000051.4(ATM):c.2654_2656delinsAA (p.Leu885_Ala886delinsTer)
|
rs1060501679
|
|
|
NM_000051.4(ATM):c.2662del (p.Glu888fs)
|
|
|
|
NM_000051.4(ATM):c.2665dup (p.Tyr889fs)
|
rs2135523450
|
|
|
NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter)
|
rs2081381578
|
|
|
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.2686_2689del (p.Leu896fs)
|
|
|
|
NM_000051.4(ATM):c.2690del (p.Phe897fs)
|
|
|
|
NM_000051.4(ATM):c.2693T>G (p.Leu898Ter)
|
rs770610463
|
|
|
NM_000051.4(ATM):c.2700dup (p.Leu901fs)
|
rs1555083198
|
|
|
NM_000051.4(ATM):c.2717del (p.Leu906fs)
|
|
|
|
NM_000051.4(ATM):c.271C>T (p.Gln91Ter)
|
rs2078888769
|
|
|
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer)
|
rs786202695
|
|
|
NM_000051.4(ATM):c.2720del (p.Cys907fs)
|
rs2135524751
|
|
|
NM_000051.4(ATM):c.2727del (p.Thr910fs)
|
rs1555083267
|
|
|
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.2743dup (p.Thr915fs)
|
|
|
|
NM_000051.4(ATM):c.2749dup (p.Ser917fs)
|
rs1555083315
|
|
|
NM_000051.4(ATM):c.2754del (p.Phe918fs)
|
rs786202608
|
|
|
NM_000051.4(ATM):c.2758del (p.Ala920fs)
|
rs2081389278
|
|
|
NM_000051.4(ATM):c.2775del (p.Lys926fs)
|
rs1060501702
|
|
|
NM_000051.4(ATM):c.2778_2779del (p.Lys926fs)
|
|
|
|
NM_000051.4(ATM):c.2783del (p.Leu927_Leu928insTer)
|
|
|
|
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)
|
rs786203309
|
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
|
NM_000051.4(ATM):c.2817del (p.Lys940fs)
|
rs1555083435
|
|
|
NM_000051.4(ATM):c.2838+1del
|
rs2081397580
|
|
|
NM_000051.4(ATM):c.2839-1G>A
|
rs995271490
|
|
|
NM_000051.4(ATM):c.2839-1_2839del
|
rs2135547229
|
|
|
NM_000051.4(ATM):c.2839-2A>C
|
rs1060501703
|
|
|
NM_000051.4(ATM):c.2839-2A>G
|
rs1060501703
|
|
|
NM_000051.4(ATM):c.2839-2A>T
|
rs1060501703
|
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
|
NM_000051.4(ATM):c.2840dup (p.Tyr947Ter)
|
rs1308599194
|
|
|
NM_000051.4(ATM):c.2852del (p.Leu950_Leu951insTer)
|
|
|
|
NM_000051.4(ATM):c.2867del (p.Gly956fs)
|
rs2135547839
|
|
|
NM_000051.4(ATM):c.2877C>A (p.Tyr959Ter)
|
rs1057517253
|
|
|
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter)
|
rs1057517253
|
|
|
NM_000051.4(ATM):c.2880del (p.Leu961fs)
|
rs730881300
|
|
|
NM_000051.4(ATM):c.2890del (p.Glu964fs)
|
|
|
|
NM_000051.4(ATM):c.2899del (p.Glu968fs)
|
|
|
|
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.2917del (p.Leu973fs)
|
|
|
|
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.2921+2T>G
|
rs2135549026
|
|
|
NM_000051.4(ATM):c.2922-1G>A
|
rs1555084931
|
|
|
NM_000051.4(ATM):c.2922-1G>T
|
rs1555084931
|
|
|
NM_000051.4(ATM):c.2922-50_2938del
|
rs1555084836
|
|
|
NM_000051.4(ATM):c.2922-50_2940del
|
rs1555084832
|
|
|
NM_000051.4(ATM):c.2924dup (p.Asn975fs)
|
|
|
|
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs)
|
rs1555084947
|
|
|
NM_000051.4(ATM):c.2938del (p.Tyr980fs)
|
rs1565425118
|
|
|
NM_000051.4(ATM):c.2940T>A (p.Tyr980Ter)
|
rs748119565
|
|
|
NM_000051.4(ATM):c.2950C>T (p.Gln984Ter)
|
|
|
|
NM_000051.4(ATM):c.2953_2954dup (p.Asp985fs)
|
rs2135552095
|
|
|
NM_000051.4(ATM):c.2956del (p.Val986fs)
|
rs2135552199
|
|
|
NM_000051.4(ATM):c.2962A>T (p.Lys988Ter)
|
rs772327699
|
|
|
NM_000051.4(ATM):c.2964_2965del (p.Lys988fs)
|
|
|
|
NM_000051.4(ATM):c.296del (p.Ser99fs)
|
|
|
|
NM_000051.4(ATM):c.2972del (p.Ile990_Leu991insTer)
|
rs2135552505
|
|
|
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer)
|
rs1060501600
|
|
|
NM_000051.4(ATM):c.2990del (p.Val997fs)
|
rs2135552978
|
|
|
NM_000051.4(ATM):c.2994dup (p.Lys999fs)
|
rs2135553051
|
|
|
NM_000051.4(ATM):c.2999del (p.Asn1000fs)
|
rs1057516250
|
|
|
NM_000051.4(ATM):c.2999dup (p.Asn1000fs)
|
rs1057516250
|
|
|
NM_000051.4(ATM):c.299T>A (p.Leu100Ter)
|
rs761936549
|
|
|
NM_000051.4(ATM):c.3007C>T (p.Gln1003Ter)
|
rs1555085143
|
|
|
NM_000051.4(ATM):c.3019_3025del (p.Asp1007fs)
|
|
|
|
NM_000051.4(ATM):c.3023_3024del (p.Asp1007_Ser1008insTer)
|
rs2135553733
|
|
|
NM_000051.4(ATM):c.3023del (p.Ser1008fs)
|
rs2135553794
|
|
|
NM_000051.4(ATM):c.3024_3025del (p.Asn1010fs)
|
rs2135553856
|
|
|
NM_000051.4(ATM):c.3024_3025insTT (p.Glu1009fs)
|
rs1555085172
|
|
|
NM_000051.4(ATM):c.3024_3031del (p.Glu1009fs)
|
|
|
|
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter)
|
rs1555085172
|
|
|
NM_000051.4(ATM):c.3027_3028del (p.Asn1010fs)
|
|
|
|
NM_000051.4(ATM):c.3032del (p.Thr1011fs)
|
rs2135554073
|
|
|
NM_000051.4(ATM):c.3034dup (p.Arg1012fs)
|
rs2135554107
|
|
|
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)
|
rs1555085210
|
|
|
NM_000051.4(ATM):c.3044_3045del (p.Gln1015fs)
|
rs1555085217
|
|
|
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)
|
rs730881388
|
|
|
NM_000051.4(ATM):c.3054del (p.Thr1020fs)
|
rs2135554539
|
|
|
NM_000051.4(ATM):c.3075_3077+23del
|
|
|
|
NM_000051.4(ATM):c.3076del (p.Trp1026fs)
|
rs2135554957
|
|
|
NM_000051.4(ATM):c.3077+1G>A
|
rs192810283
|
|
|
NM_000051.4(ATM):c.3077+1G>C
|
|
|
|
NM_000051.4(ATM):c.3077+1G>T
|
rs192810283
|
|
|
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)
|
rs587782103
|
|
|
NM_000051.4(ATM):c.3078-2A>C
|
rs2135564916
|
|
|
NM_000051.4(ATM):c.3078-2A>G
|
|
|
|
NM_000051.4(ATM):c.3078G>A (p.Trp1026Ter)
|
rs876660869
|
|
|
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)
|
rs876658502
|
|
|
NM_000051.4(ATM):c.3086_3090del (p.Thr1029fs)
|
rs2135565205
|
|
|
NM_000051.4(ATM):c.3091del (p.Glu1031fs)
|
rs2135565314
|
|
|
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)
|
rs780240314
|
|
|
NM_000051.4(ATM):c.3105_3106del (p.Phe1036fs)
|
rs2081640268
|
|
|
NM_000051.4(ATM):c.3105_3106dup (p.Phe1036fs)
|
rs2081640268
|
|
|
NM_000051.4(ATM):c.3112_3113del (p.Val1038fs)
|
rs2135565843
|
|
|
NM_000051.4(ATM):c.311del (p.Phe104fs)
|
rs1555055309
|
|
|
NM_000051.4(ATM):c.3124del (p.Ala1041_Leu1042insTer)
|
|
|
|
NM_000051.4(ATM):c.3131del (p.Asn1044fs)
|
|
|
|
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)
|
rs568461905
|
|
|
NM_000051.4(ATM):c.3142del (p.Thr1048fs)
|
rs2135566568
|
|
|
NM_000051.4(ATM):c.3145_3146del (p.Leu1049fs)
|
rs1565427961
|
|
|
NM_000051.4(ATM):c.3154-1G>A
|
rs1555085973
|
|
|
NM_000051.4(ATM):c.3154-2A>T
|
rs730881357
|
|
|
NM_000051.4(ATM):c.3167C>A (p.Ser1056Ter)
|
rs1565428419
|
|
|
NM_000051.4(ATM):c.3171del (p.Lys1057fs)
|
|
|
|
NM_000051.4(ATM):c.3171dup (p.Trp1058fs)
|
rs2135570105
|
|
|
NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)
|
|
|
|
NM_000051.4(ATM):c.3174G>A (p.Trp1058Ter)
|
rs1064796080
|
|
|
NM_000051.4(ATM):c.3181del (p.Asn1062fs)
|
rs2081660777
|
|
|
NM_000051.4(ATM):c.3183_3184insCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAATGGGCCATTCTT (p.Leu1061_Asn1062insGlnLeuLeuGlyArgLeuArgGlnGluAsnGlyValAsnProGlySerGlyAlaCysSerGluProArgLeuArgXaaXaaXaaLysLysLysLysLysLysLysLysTrpAlaIleLeu)
|
|
|
|
NM_000051.4(ATM):c.3188_3192del (p.Val1063fs)
|
rs2135570486
|
|
|
NM_000051.4(ATM):c.3188dup (p.Met1064fs)
|
rs2135570632
|
|
|
NM_000051.4(ATM):c.318del (p.Lys106fs)
|
rs1591452378
|
|
|
NM_000051.4(ATM):c.318dup (p.Cys107fs)
|
rs1591452378
|
|
|
NM_000051.4(ATM):c.3198del (p.Asp1067fs)
|
|
|
|
NM_000051.4(ATM):c.3203_3204del (p.Phe1068fs)
|
rs2135571055
|
|
|
NM_000051.4(ATM):c.3206del (p.Pro1069fs)
|
rs1060501677
|
|
|
NM_000051.4(ATM):c.3213del (p.Asn1071fs)
|
rs2135571395
|
|
|
NM_000051.4(ATM):c.3214del (p.Glu1072fs)
|
|
|
|
NM_000051.4(ATM):c.3216del (p.Val1073fs)
|
rs2135571457
|
|
|
NM_000051.4(ATM):c.3218dup (p.Phe1074fs)
|
rs876660741
|
|
|
NM_000051.4(ATM):c.3226C>T (p.Gln1076Ter)
|
|
|
|
NM_000051.4(ATM):c.3231dup (p.Leu1078fs)
|
rs1057517097
|
|
|
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)
|
rs1060501587
|
|
|
NM_000051.4(ATM):c.3244_3245insG (p.His1082fs)
|
rs761486324
|
|
|
NM_000051.4(ATM):c.3244_3245insTG (p.His1082fs)
|
|
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
|
NM_000051.4(ATM):c.3248A>G (p.His1083Arg)
|
rs2081667850
|
|
|
NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter)
|
rs1386063673
|
|
|
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs)
|
rs876658402
|
|
|
NM_000051.4(ATM):c.325_326del (p.Asn109fs)
|
rs2135038488
|
|
|
NM_000051.4(ATM):c.3261del (p.Met1087fs)
|
rs1565429054
|
|
|
NM_000051.4(ATM):c.3267del (p.Ala1090fs)
|
|
|
|
NM_000051.4(ATM):c.326dup (p.Asn109fs)
|
rs2135038488
|
|
|
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs)
|
rs1565429102
|
|
|
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter)
|
rs774197372
|
|
|
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.3280_3281del (p.Ile1093_Asn1094insTer)
|
|
|
|
NM_000051.4(ATM):c.3281del (p.Asn1094fs)
|
rs776516754
|
|
|
NM_000051.4(ATM):c.3284+1del
|
|
|
|
NM_000051.4(ATM):c.3285-1G>T
|
|
|
|
NM_000051.4(ATM):c.3285-2A>G
|
rs1591631876
|
|
|
NM_000051.4(ATM):c.3285-2_3285-1insAAAAAAAAAAAAAAAAAAAAAAAA
|
rs2135642194
|
|
|
NM_000051.4(ATM):c.3285-2_3296dup
|
rs1591631866
|
|
|
NM_000051.4(ATM):c.3292C>T (p.Gln1098Ter)
|
rs773964990
|
|
|
NM_000051.4(ATM):c.3292del (p.Gln1098fs)
|
rs1555090075
|
|
|
NM_000051.4(ATM):c.3297del (p.Asp1099fs)
|
rs2082115419
|
|
|
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+2T>G
|
rs1555055358
|
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
|
NM_000051.4(ATM):c.331+5G>C
|
|
|
|
NM_000051.4(ATM):c.3310dup (p.Ser1104fs)
|
|
|
|
NM_000051.4(ATM):c.3315del (p.Arg1106fs)
|
|
|
|
NM_000051.4(ATM):c.3315dup (p.Arg1106fs)
|
rs1057516301
|
|
|
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter)
|
rs1060501711
|
|
|
NM_000051.4(ATM):c.3335del (p.Pro1112fs)
|
rs876660031
|
|
|
NM_000051.4(ATM):c.3338T>A (p.Leu1113Ter)
|
rs1591632166
|
|
|
NM_000051.4(ATM):c.3338del (p.Pro1112_Leu1113insTer)
|
|
|
|
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.3346del (p.Gln1116fs)
|
|
|
|
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)
|
rs786201957
|
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
|
NM_000051.4(ATM):c.3352del (p.Thr1118fs)
|
rs2082120435
|
|
|
NM_000051.4(ATM):c.3366del (p.Asn1122fs)
|
|
|
|
NM_000051.4(ATM):c.3369del (p.Tyr1124fs)
|
rs587781752
|
|
|
NM_000051.4(ATM):c.3376_3377insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGCATACTTGA (p.Lys1126delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer)
|
rs2135644510
|
|
|
NM_000051.4(ATM):c.3376_3377insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGCATACTTGA (p.Lys1126fs)
|
rs2135644510
|
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
|
NM_000051.4(ATM):c.3382C>T (p.Gln1128Ter)
|
rs876659825
|
|
|
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter)
|
rs587781911
|
|
|
NM_000051.4(ATM):c.3397G>T (p.Glu1133Ter)
|
|
|
|
NM_000051.4(ATM):c.3402+3A>C
|
rs786203688
|
|
|
NM_000051.4(ATM):c.3422del (p.Pro1141fs)
|
|
|
|
NM_000051.4(ATM):c.3431del (p.Leu1144fs)
|
rs1555091158
|
|
|
NM_000051.4(ATM):c.3434dup (p.Asp1145fs)
|
|
|
|
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs)
|
rs886039632
|
|
|
NM_000051.4(ATM):c.3435del (p.Asp1145fs)
|
rs1591636349
|
|
|
NM_000051.4(ATM):c.3436G>T (p.Glu1146Ter)
|
rs1565441511
|
|
|
NM_000051.4(ATM):c.3442del (p.Tyr1148fs)
|
rs2135666319
|
|
|
NM_000051.4(ATM):c.3447del (p.Asn1149fs)
|
rs2135666442
|
|
|
NM_000051.4(ATM):c.3448A>T (p.Arg1150Ter)
|
rs786201209
|
|
|
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.3455_3456del (p.Ser1152fs)
|
rs2135666711
|
|
|
NM_000051.4(ATM):c.3461T>A (p.Leu1154Ter)
|
rs2135666960
|
|
|
NM_000051.4(ATM):c.3469_3470dup (p.Leu1157fs)
|
|
|
|
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.3485del (p.Leu1162fs)
|
rs2082207948
|
|
|
NM_000051.4(ATM):c.3489dup (p.Cys1164fs)
|
rs2082208208
|
|
|
NM_000051.4(ATM):c.3503dup (p.Cys1168fs)
|
rs2082209411
|
|
|
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)
|
rs876658899
|
|
|
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter)
|
rs876659067
|
|
|
NM_000051.4(ATM):c.3511_3512dup (p.Gln1171fs)
|
rs1555091302
|
|
|
NM_000051.4(ATM):c.3514del (p.Ala1172fs)
|
|
|
|
NM_000051.4(ATM):c.3520_3523del (p.Phe1174fs)
|
rs1394502687
|
|
|
NM_000051.4(ATM):c.3523del (p.Ala1175fs)
|
rs2135669053
|
|
|
NM_000051.4(ATM):c.3526del (p.Leu1176fs)
|
rs730881302
|
|
|
NM_000051.4(ATM):c.3527del (p.Leu1176fs)
|
rs2135669236
|
|
|
NM_000051.4(ATM):c.352C>T (p.Gln118Ter)
|
rs2079235532
|
|
|
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.3550G>T (p.Gly1184Ter)
|
rs1555091402
|
|
|
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer)
|
rs1555091431
|
|
|
NM_000051.4(ATM):c.3577-9_3583del
|
rs1555092219
|
|
|
NM_000051.4(ATM):c.357dup (p.Leu120fs)
|
rs1591474530
|
|
|
NM_000051.4(ATM):c.3587_3588del (p.Lys1196fs)
|
|
|
|
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs)
|
rs1057517129
|
|
|
NM_000051.4(ATM):c.3603del (p.Phe1201fs)
|
rs1057517129
|
|
|
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer)
|
rs1555092297
|
|
|
NM_000051.4(ATM):c.3613_3614insTTTATGTTTAGAA (p.Arg1205delinsLeuTyrValTer)
|
|
|
|
NM_000051.4(ATM):c.3617T>G (p.Leu1206Ter)
|
|
|
|
NM_000051.4(ATM):c.3617_3620del (p.Arg1205_Leu1206insTer)
|
rs2135687676
|
|
|
NM_000051.4(ATM):c.3617dup (p.Leu1206fs)
|
rs2082297073
|
|
|
NM_000051.4(ATM):c.3625_3626insCTCA (p.Phe1209fs)
|
rs2135688037
|
|
|
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)
|
rs587782861
|
|
|
NM_000051.4(ATM):c.3626_3628delinsCTCATTAGAGAGTCTCATTAGATTATC (p.Phe1209_Met1210delinsSerHisTer)
|
|
|
|
NM_000051.4(ATM):c.3627del (p.Phe1209fs)
|
rs587782861
|
|
|
NM_000051.4(ATM):c.362T>A (p.Leu121Ter)
|
rs771342315
|
|
|
NM_000051.4(ATM):c.3648del (p.Leu1217fs)
|
rs2135688794
|
|
|
NM_000051.4(ATM):c.365del (p.Asn122fs)
|
|
|
|
NM_000051.4(ATM):c.3664_3666delinsAT (p.Leu1222fs)
|
|
|
|
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.3682G>T (p.Glu1228Ter)
|
rs1334793787
|
|
|
NM_000051.4(ATM):c.3687C>A (p.Tyr1229Ter)
|
rs2082303743
|
|
|
NM_000051.4(ATM):c.368del (p.Tyr123fs)
|
rs730881296
|
|
|
NM_000051.4(ATM):c.3691_3692del (p.Leu1231fs)
|
|
|
|
NM_000051.4(ATM):c.3692_3716del (p.Asn1230_Leu1231insTer)
|
rs2082304563
|
|
|
NM_000051.4(ATM):c.3693_3697del (p.Leu1231fs)
|
rs1555092477
|
|
|
NM_000051.4(ATM):c.3693del (p.Leu1231fs)
|
|
|
|
NM_000051.4(ATM):c.3695_3713del (p.Ser1232fs)
|
|
|
|
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs)
|
rs2082305146
|
|
|
NM_000051.4(ATM):c.3699_3703dup (p.Pro1235fs)
|
|
|
|
NM_000051.4(ATM):c.36C>A (p.Cys12Ter)
|
|
|
|
NM_000051.4(ATM):c.3704_3708del (p.Pro1235fs)
|
rs2135690451
|
|
|
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.3716_3717insTCCTTTTATTTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCT (p.Leu1239delinsPheProPheIleLeuPhePhePhePhePhePheXaaXaaXaaXaaSerAsnPheIleHisValProThrLysAspMetAsnSerSerPhePheMetAlaAlaTer)
|
rs2135690630
|
|
|
NM_000051.4(ATM):c.3721_3722del (p.Tyr1241fs)
|
rs2135690723
|
|
|
NM_000051.4(ATM):c.3728dup (p.Asn1243fs)
|
|
|
|
NM_000051.4(ATM):c.372_378del (p.Met125fs)
|
|
|
|
NM_000051.4(ATM):c.3732del (p.Ile1244fs)
|
|
|
|
NM_000051.4(ATM):c.3733G>T (p.Glu1245Ter)
|
rs2082308153
|
|
|
NM_000051.4(ATM):c.3735_3742dup (p.Tyr1248fs)
|
|
|
|
NM_000051.4(ATM):c.3745A>T (p.Arg1249Ter)
|
|
|
|
NM_000051.4(ATM):c.3746+1G>A
|
rs2082309297
|
|
|
NM_000051.4(ATM):c.3746+5G>A
|
rs876658419
|
|
|
NM_000051.4(ATM):c.3747-1G>A
|
rs730881364
|
|
|
NM_000051.4(ATM):c.3747-1G>T
|
|
|
|
NM_000051.4(ATM):c.3747-2A>G
|
rs1057517213
|
|
|
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)
|
rs786201886
|
|
|
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)
|
rs886039637
|
|
|
NM_000051.4(ATM):c.3756T>G (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.3758del (p.Lys1253fs)
|
|
|
|
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.3771dup (p.His1258fs)
|
|
|
|
NM_000051.4(ATM):c.3780dup (p.Ile1261fs)
|
rs786202694
|
|
|
NM_000051.4(ATM):c.3783del (p.Arg1262fs)
|
rs2082375533
|
|
|
NM_000051.4(ATM):c.3784A>T (p.Arg1262Ter)
|
rs1591645509
|
|
|
NM_000051.4(ATM):c.378del (p.Asp126fs)
|
rs587781449
|
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
|
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.3841del (p.Ser1281fs)
|
rs886039621
|
|
|
NM_000051.4(ATM):c.3843TCT[1] (p.Leu1283del)
|
|
|
|
NM_000051.4(ATM):c.3850del (p.Thr1284fs)
|
rs876660865
|
|
|
NM_000051.4(ATM):c.3852del (p.Asp1285fs)
|
rs886039605
|
|
|
NM_000051.4(ATM):c.3858C>A (p.Cys1286Ter)
|
rs2082381612
|
|
|
NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter)
|
rs1131691160
|
|
|
NM_000051.4(ATM):c.3866del (p.Lys1289fs)
|
|
|
|
NM_000051.4(ATM):c.3868_3884del (p.Ile1290fs)
|
rs2082382004
|
|
|
NM_000051.4(ATM):c.387del (p.Asp130fs)
|
rs745642834
|
|
|
NM_000051.4(ATM):c.3880dup (p.Ile1294fs)
|
rs1057516541
|
|
|
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
|
|
|
|
NM_000051.4(ATM):c.3891T>A (p.Tyr1297Ter)
|
|
|
|
NM_000051.4(ATM):c.3891T>G (p.Tyr1297Ter)
|
|
|
|
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)
|
rs587781823
|
|
|
NM_000051.4(ATM):c.3895del (p.Ala1299fs)
|
rs786203501
|
|
|
NM_000051.4(ATM):c.3900T>G (p.Tyr1300Ter)
|
|
|
|
NM_000051.4(ATM):c.3916_3917del (p.Ser1306fs)
|
rs2135708324
|
|
|
NM_000051.4(ATM):c.391dup (p.Ser131fs)
|
rs2079239543
|
|
|
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.3933_3934del (p.Glu1313fs)
|
rs2082385904
|
|
|
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)
|
rs876659672
|
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
|
NM_000051.4(ATM):c.3952del (p.Val1318fs)
|
rs1591646354
|
|
|
NM_000051.4(ATM):c.3955_3958dup (p.Asp1320delinsValTer)
|
rs1591646379
|
|
|
NM_000051.4(ATM):c.3964dup (p.Leu1322fs)
|
rs2135709622
|
|
|
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)
|
rs587782192
|
|
|
NM_000051.4(ATM):c.3987_3993+1del
|
rs2135710049
|
|
|
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter)
|
rs2082389962
|
|
|
NM_000051.4(ATM):c.3993+1G>T
|
rs200196781
|
|
|
NM_000051.4(ATM):c.3993+2T>C
|
rs2135710273
|
|
|
NM_000051.4(ATM):c.3994-1G>T
|
rs1057516238
|
|
|
NM_000051.4(ATM):c.4000_4006del (p.His1334fs)
|
rs2135735093
|
|
|
NM_000051.4(ATM):c.4000_4010del (p.Asp1333_His1334insTer)
|
|
|
|
NM_000051.4(ATM):c.4003_4004del (p.Leu1335fs)
|
|
|
|
NM_000051.4(ATM):c.4004T>A (p.Leu1335Ter)
|
rs2082558148
|
|
|
NM_000051.4(ATM):c.4004dup (p.Leu1335fs)
|
|
|
|
NM_000051.4(ATM):c.4007del (p.Phe1336fs)
|
rs1555095841
|
|
|
NM_000051.4(ATM):c.4007dup (p.Ile1337fs)
|
rs1555095841
|
|
|
NM_000051.4(ATM):c.4011del (p.Ser1338fs)
|
rs1591655633
|
|
|
NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter)
|
rs2082559544
|
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
|
NM_000051.4(ATM):c.4023del (p.Glu1342fs)
|
|
|
|
NM_000051.4(ATM):c.4028_4034del (p.Ile1343fs)
|
rs2135735834
|
|
|
NM_000051.4(ATM):c.4036G>T (p.Glu1346Ter)
|
rs1060501528
|
|
|
NM_000051.4(ATM):c.403del (p.Ala135fs)
|
rs2135123204
|
|
|
NM_000051.4(ATM):c.4040T>A (p.Leu1347Ter)
|
rs1565452621
|
|
|
NM_000051.4(ATM):c.4052T>A (p.Leu1351Ter)
|
rs1565452687
|
|
|
NM_000051.4(ATM):c.4052del (p.Leu1351fs)
|
rs786202350
|
|
|
NM_000051.4(ATM):c.4056_4065del (p.His1352fs)
|
rs1555095955
|
|
|
NM_000051.4(ATM):c.4080_4083del (p.Ser1360fs)
|
|
|
|
NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter)
|
rs121434222
|
|
|
NM_000051.4(ATM):c.4087del (p.Thr1363fs)
|
rs1555096035
|
|
|
NM_000051.4(ATM):c.4093del (p.Leu1365fs)
|
rs2135737651
|
|
|
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.40C>T (p.Gln14Ter)
|
|
|
|
NM_000051.4(ATM):c.4101del (p.Ser1369fs)
|
rs1565453029
|
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
|
NM_000051.4(ATM):c.4105del (p.Ser1369fs)
|
|
|
|
NM_000051.4(ATM):c.4107del (p.Asp1371fs)
|
|
|
|
NM_000051.4(ATM):c.4110-1G>A
|
rs1060501692
|
|
|
NM_000051.4(ATM):c.4110-1G>C
|
rs1060501692
|
|
|
NM_000051.4(ATM):c.4110-2A>G
|
rs2135750262
|
|
|
NM_000051.4(ATM):c.4111del
|
rs797045114
|
|
|
NM_000051.4(ATM):c.4115del (p.Leu1372fs)
|
rs2082638431
|
|
|
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)
|
rs756160533
|
|
|
NM_000051.4(ATM):c.4125del (p.Pro1376fs)
|
|
|
|
NM_000051.4(ATM):c.4133del (p.Pro1378fs)
|
rs2135751048
|
|
|
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)
|
rs730881309
|
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
|
NM_000051.4(ATM):c.4158_4175delinsC (p.Lys1387fs)
|
rs2082642299
|
|
|
NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)
|
|
|
|
NM_000051.4(ATM):c.4173del (p.Tyr1392fs)
|
|
|
|
NM_000051.4(ATM):c.4188_4189del (p.Cys1396_His1397delinsTer)
|
rs2135752682
|
|
|
NM_000051.4(ATM):c.4189dup (p.His1397fs)
|
rs2082644891
|
|
|
NM_000051.4(ATM):c.4202T>A (p.Leu1401Ter)
|
rs1555096975
|
|
|
NM_000051.4(ATM):c.4214del (p.Ile1404_Leu1405insTer)
|
rs2082646632
|
|
|
NM_000051.4(ATM):c.4222_4236+5del
|
rs2135753552
|
|
|
NM_000051.4(ATM):c.4225del (p.Ser1409fs)
|
rs2082647388
|
|
|
NM_000051.4(ATM):c.4227del (p.Ser1411fs)
|
rs587782054
|
|
|
NM_000051.4(ATM):c.422dup (p.Cys141fs)
|
rs2079242252
|
|
|
NM_000051.4(ATM):c.4231del (p.Ser1411fs)
|
|
|
|
NM_000051.4(ATM):c.4236+1G>A
|
|
|
|
NM_000051.4(ATM):c.4236del (p.Asp1413fs)
|
rs1565455297
|
|
|
NM_000051.4(ATM):c.4252_4259dup (p.Ala1421fs)
|
rs1591662606
|
|
|
NM_000051.4(ATM):c.4270G>T (p.Glu1424Ter)
|
|
|
|
NM_000051.4(ATM):c.4280del (p.Ala1427fs)
|
rs1591662758
|
|
|
NM_000051.4(ATM):c.4282del (p.Glu1428fs)
|
rs2082672268
|
|
|
NM_000051.4(ATM):c.4303A>T (p.Lys1435Ter)
|
rs876660964
|
|
|
NM_000051.4(ATM):c.4303_4304insTT (p.Lys1435fs)
|
rs2082673829
|
|
|
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)
|
rs1060501551
|
|
|
NM_000051.4(ATM):c.4325dup (p.Tyr1442Ter)
|
rs2135762072
|
|
|
NM_000051.4(ATM):c.4326T>A (p.Tyr1442Ter)
|
|
|
|
NM_000051.4(ATM):c.432del (p.Leu145fs)
|
rs1555059333
|
|
|
NM_000051.4(ATM):c.432dup (p.Leu145fs)
|
rs1555059330
|
|
|
NM_000051.4(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer)
|
rs1064792938
|
|
|
NM_000051.4(ATM):c.4332del (p.Phe1445fs)
|
rs2135762420
|
|
|
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.4344dup (p.Leu1449fs)
|
rs1555097604
|
|
|
NM_000051.4(ATM):c.434_444del (p.Leu145fs)
|
|
|
|
NM_000051.4(ATM):c.4353dup (p.Asp1452fs)
|
|
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
|
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.4383G>A (p.Trp1461Ter)
|
rs1294578913
|
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
|
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)
|
rs771887195
|
|
|
NM_000051.4(ATM):c.4402_4403delinsA (p.Val1468fs)
|
rs1591663850
|
|
|
NM_000051.4(ATM):c.440_443dup (p.Asp148fs)
|
|
|
|
NM_000051.4(ATM):c.4413_4431del (p.Leu1472fs)
|
|
|
|
NM_000051.4(ATM):c.4415T>A (p.Leu1472Ter)
|
rs772555314
|
|
|
NM_000051.4(ATM):c.441dup (p.Asp148fs)
|
rs1427164968
|
|
|
NM_000051.4(ATM):c.442dup (p.Asp148fs)
|
rs1555059380
|
|
|
NM_000051.4(ATM):c.4430dup (p.Asn1477fs)
|
|
|
|
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)
|
rs1368412801
|
|
|
NM_000051.4(ATM):c.4436+1G>A
|
rs1555097894
|
|
|
NM_000051.4(ATM):c.4436+1G>T
|
rs1555097894
|
|
|
NM_000051.4(ATM):c.4436+2T>C
|
rs1555097898
|
|
|
NM_000051.4(ATM):c.4445del (p.Cys1482fs)
|
|
|
|
NM_000051.4(ATM):c.444_450del (p.Ile149fs)
|
rs2079244120
|
|
|
NM_000051.4(ATM):c.4450_4451del (p.Met1484fs)
|
rs1565460896
|
|
|
NM_000051.4(ATM):c.4451del (p.Met1484fs)
|
rs1555099760
|
|
|
NM_000051.4(ATM):c.4452_4462del (p.Met1484fs)
|
|
|
|
NM_000051.4(ATM):c.4458_4459del (p.Ser1487fs)
|
rs2135797740
|
|
|
NM_000051.4(ATM):c.4461_4464del (p.Leu1488fs)
|
|
|
|
NM_000051.4(ATM):c.4463T>G (p.Leu1488Ter)
|
|
|
|
NM_000051.4(ATM):c.4463dup (p.Leu1488fs)
|
|
|
|
NM_000051.4(ATM):c.4466_4467insAG (p.Ser1490fs)
|
rs2135798107
|
|
|
NM_000051.4(ATM):c.4467del (p.Ser1490fs)
|
rs2135798153
|
|
|
NM_000051.4(ATM):c.4483del (p.Cys1495fs)
|
rs2135798648
|
|
|
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
|
|
|
|
NM_000051.4(ATM):c.4493T>G (p.Leu1498Ter)
|
rs1329359780
|
|
|
NM_000051.4(ATM):c.4493_4494insSVAelement
|
rs2082862502
|
|
|
NM_000051.4(ATM):c.4493_4494insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTTCTGTTGTGACTTATT (p.Leu1498delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuValArgTer)
|
|
|
|
NM_000051.4(ATM):c.4497_4519dup (p.Thr1507delinsIleArgPheAlaArgGlnProTer)
|
rs2135799107
|
|
|
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)
|
rs771936821
|
|
|
NM_000051.4(ATM):c.4517_4518insCTTACTTACTTAAGGATGCT (p.Val1506_Thr1507insLeuLeuThrTer)
|
rs2135799845
|
|
|
NM_000051.4(ATM):c.451_452insSVAelement
|
rs2079244988
|
|
|
NM_000051.4(ATM):c.4522dup (p.Tyr1508fs)
|
rs1555099888
|
|
|
NM_000051.4(ATM):c.4523dup (p.Tyr1508Ter)
|
rs2135800044
|
|
|
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter)
|
rs1555099892
|
|
|
NM_000051.4(ATM):c.4544dup (p.Asn1515fs)
|
rs2082867555
|
|
|
NM_000051.4(ATM):c.4552_4556del (p.His1518fs)
|
rs2082868647
|
|
|
NM_000051.4(ATM):c.4553del (p.His1518fs)
|
|
|
|
NM_000051.4(ATM):c.4555del (p.Val1519fs)
|
rs2135801094
|
|
|
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs)
|
rs1591674707
|
|
|
NM_000051.4(ATM):c.4579del (p.Val1528fs)
|
rs1565461674
|
|
|
NM_000051.4(ATM):c.4584_4585del (p.Val1528_Tyr1529insTer)
|
rs2135802014
|
|
|
NM_000051.4(ATM):c.4587T>A (p.Tyr1529Ter)
|
rs1555100005
|
|
|
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.4603C>T (p.Gln1535Ter)
|
rs771549673
|
|
|
NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter)
|
rs1555100037
|
|
|
NM_000051.4(ATM):c.4610_4611del (p.Gln1537fs)
|
|
|
|
NM_000051.4(ATM):c.4622del (p.Leu1541fs)
|
rs2135809766
|
|
|
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)
|
rs730881304
|
|
|
NM_000051.4(ATM):c.4626_4632del (p.Leu1542fs)
|
rs2135810015
|
|
|
NM_000051.4(ATM):c.4632C>A (p.Tyr1544Ter)
|
|
|
|
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.4653_4672dup (p.Thr1558fs)
|
rs2082915385
|
|
|
NM_000051.4(ATM):c.465C>G (p.Tyr155Ter)
|
|
|
|
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.4669del (p.Ile1557fs)
|
rs1591677254
|
|
|
NM_000051.4(ATM):c.467G>A (p.Trp156Ter)
|
rs876658159
|
|
|
NM_000051.4(ATM):c.4683_4689del (p.Asp1563fs)
|
rs886039515
|
|
|
NM_000051.4(ATM):c.4685del (p.Leu1561_Leu1562insTer)
|
|
|
|
NM_000051.4(ATM):c.468G>A (p.Trp156Ter)
|
rs1591475457
|
|
|
NM_000051.4(ATM):c.468del (p.Trp156fs)
|
rs2079245902
|
|
|
NM_000051.4(ATM):c.4695del (p.Pro1566fs)
|
rs1057517452
|
|
|
NM_000051.4(ATM):c.46G>T (p.Glu16Ter)
|
|
|
|
NM_000051.4(ATM):c.4728del (p.Thr1577fs)
|
|
|
|
NM_000051.4(ATM):c.4730_4733del (p.Thr1577fs)
|
|
|
|
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.4749C>A (p.Tyr1583Ter)
|
|
|
|
NM_000051.4(ATM):c.4758_4759del (p.Pro1587fs)
|
|
|
|
NM_000051.4(ATM):c.475del (p.Ile159fs)
|
rs1555059464
|
|
|
NM_000051.4(ATM):c.4761dup (p.Phe1588fs)
|
rs1591677757
|
|
|
NM_000051.4(ATM):c.4765del (p.Ser1589fs)
|
|
|
|
NM_000051.4(ATM):c.4766_4772del (p.Ser1589fs)
|
|
|
|
NM_000051.4(ATM):c.4774del (p.Glu1592fs)
|
rs2135814096
|
|
|
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly)
|
rs1565463405
|
|
|
NM_000051.4(ATM):c.4775A>T (p.Glu1592Val)
|
|
|
|
NM_000051.4(ATM):c.4776+1G>A
|
|
|
|
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.4777-1G>A
|
rs1591684268
|
|
|
NM_000051.4(ATM):c.4777-2A>C
|
|
|
|
NM_000051.4(ATM):c.4777-2A>G
|
|
|
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
|
NM_000051.4(ATM):c.4798del (p.Ser1599_Val1600insTer)
|
rs2135834179
|
|
|
NM_000051.4(ATM):c.4799dup (p.Ser1601fs)
|
rs2135834235
|
|
|
NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs)
|
rs1060501659
|
|
|
NM_000051.4(ATM):c.4801del (p.Ser1601fs)
|
|
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
|
NM_000051.4(ATM):c.4809T>A (p.Tyr1603Ter)
|
|
|
|
NM_000051.4(ATM):c.4840del (p.Gly1613_Leu1614insTer)
|
rs2083039160
|
|
|
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs)
|
rs753011366
|
|
|
NM_000051.4(ATM):c.4844del (p.Lys1615fs)
|
rs1555101791
|
|
|
NM_000051.4(ATM):c.484C>T (p.Gln162Ter)
|
rs1565357383
|
|
|
NM_000051.4(ATM):c.4858C>T (p.Gln1620Ter)
|
|
|
|
NM_000051.4(ATM):c.4858_4859del (p.Gln1620fs)
|
|
|
|
NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter)
|
|
|
|
NM_000051.4(ATM):c.4864del (p.Glu1622fs)
|
rs2083042256
|
|
|
NM_000051.4(ATM):c.486del (p.Gln162fs)
|
rs2079247626
|
|
|
NM_000051.4(ATM):c.4879del (p.Gln1627fs)
|
rs2135837254
|
|
|
NM_000051.4(ATM):c.487C>T (p.Gln163Ter)
|
rs1591475608
|
|
|
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter)
|
rs1060501627
|
|
|
NM_000051.4(ATM):c.4909+1G>T
|
rs756987454
|
|
|
NM_000051.4(ATM):c.4910-362_4960delinsCCACAGTGTTGGATAAC
|
rs2135857103
|
|
|
NM_000051.4(ATM):c.4918C>T (p.Gln1640Ter)
|
|
|
|
NM_000051.4(ATM):c.491G>A (p.Trp164Ter)
|
|
|
|
NM_000051.4(ATM):c.4929del (p.Met1644fs)
|
rs2083175858
|
|
|
NM_000051.4(ATM):c.492G>A (p.Trp164Ter)
|
rs1555059530
|
|
|
NM_000051.4(ATM):c.492dup (p.Leu165fs)
|
rs1555059513
|
|
|
NM_000051.4(ATM):c.4933del (p.Met1644_Val1645insTer)
|
rs2135861869
|
|
|
NM_000051.4(ATM):c.4938del (p.Lys1646fs)
|
rs587781754
|
|
|
NM_000051.4(ATM):c.494T>G (p.Leu165Ter)
|
rs2079249238
|
|
|
NM_000051.4(ATM):c.4957C>T (p.Gln1653Ter)
|
rs1565469955
|
|
|
NM_000051.4(ATM):c.4957_4958del (p.Gln1653fs)
|
rs2135862582
|
|
|
NM_000051.4(ATM):c.4958_4959insTAAC (p.Gln1653fs)
|
rs2083178407
|
|
|
NM_000051.4(ATM):c.495dup (p.Glu166fs)
|
|
|
|
NM_000051.4(ATM):c.4961T>A (p.Leu1654Ter)
|
|
|
|
NM_000051.4(ATM):c.496G>C (p.Glu166Gln)
|
rs1565357473
|
|
|
NM_000051.4(ATM):c.496G>T (p.Glu166Ter)
|
rs1565357473
|
|
|
NM_000051.4(ATM):c.497-3528_663-121del
|
|
|
|
NM_000051.4(ATM):c.4988del (p.Gly1663fs)
|
rs1565470139
|
|
|
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter)
|
rs1555103301
|
|
|
NM_000051.4(ATM):c.5015del (p.Gly1672fs)
|
rs864622662
|
|
|
NM_000051.4(ATM):c.5028del (p.Glu1677fs)
|
|
|
|
NM_000051.4(ATM):c.503del (p.Phe168fs)
|
rs2135221867
|
|
|
NM_000051.4(ATM):c.5048_5052del (p.Phe1683fs)
|
rs2135889257
|
|
|
NM_000051.4(ATM):c.5048del (p.Phe1683fs)
|
|
|
|
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)
|
rs1555104609
|
|
|
NM_000051.4(ATM):c.5070del (p.His1690fs)
|
rs2083325659
|
|
|
NM_000051.4(ATM):c.5073_5074dup (p.Lys1692fs)
|
rs2083326327
|
|
|
NM_000051.4(ATM):c.5076del (p.Asp1693fs)
|
rs1591702340
|
|
|
NM_000051.4(ATM):c.5088T>G (p.Tyr1696Ter)
|
rs786203476
|
|
|
NM_000051.4(ATM):c.50_51del (p.His17fs)
|
rs775561876
|
|
|
NM_000051.4(ATM):c.5100dup (p.Lys1701Ter)
|
rs2135890847
|
|
|
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.5129G>A (p.Trp1710Ter)
|
|
|
|
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.5167del (p.Leu1722_Val1723insTer)
|
rs2135893101
|
|
|
NM_000051.4(ATM):c.5172dup (p.Asp1725fs)
|
rs2135893222
|
|
|
NM_000051.4(ATM):c.5177+1G>A
|
rs1131691159
|
|
|
NM_000051.4(ATM):c.5177+1G>C
|
rs1131691159
|
|
|
NM_000051.4(ATM):c.5177+5G>A
|
rs759373136
|
|
|
NM_000051.4(ATM):c.5178-1G>A
|
rs1555105579
|
|
|
NM_000051.4(ATM):c.5178-2A>C
|
|
|
|
NM_000051.4(ATM):c.5178-2A>G
|
rs2135911500
|
|
|
NM_000051.4(ATM):c.5183_5184del (p.Lys1728fs)
|
|
|
|
NM_000051.4(ATM):c.5184dup (p.Val1729fs)
|
rs1555105588
|
|
|
NM_000051.4(ATM):c.5192C>G (p.Ser1731Ter)
|
rs886039627
|
|
|
NM_000051.4(ATM):c.519_520insTG (p.Leu174fs)
|
|
|
|
NM_000051.4(ATM):c.5200del (p.Val1734fs)
|
rs2135912272
|
|
|
NM_000051.4(ATM):c.5201_5202insAT (p.Thr1735fs)
|
rs730881305
|
|
|
NM_000051.4(ATM):c.5209_5210del (p.Leu1737fs)
|
rs1555105660
|
|
|
NM_000051.4(ATM):c.5217_5231del (p.Asn1739_Thr1743del)
|
rs2135912726
|
|
|
NM_000051.4(ATM):c.5218_5225dup (p.Ala1742_Thr1743insPheTer)
|
|
|
|
NM_000051.4(ATM):c.5249G>A (p.Trp1750Ter)
|
rs1060501669
|
|
|
NM_000051.4(ATM):c.5255_5256insCT (p.Tyr1753fs)
|
rs2083441908
|
|
|
NM_000051.4(ATM):c.5257del (p.Tyr1753fs)
|
|
|
|
NM_000051.4(ATM):c.5260_5264del (p.Lys1754fs)
|
|
|
|
NM_000051.4(ATM):c.5279dup (p.Met1760fs)
|
rs2135914599
|
|
|
NM_000051.4(ATM):c.5286_5293del (p.Tyr1763fs)
|
rs1591709001
|
|
|
NM_000051.4(ATM):c.5287_5288insTTTAGAACATCAAGAAAAAACTACATCAAGAACATCAAGAAC (p.Tyr1763delinsPheTer)
|
|
|
|
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)
|
rs1555105786
|
|
|
NM_000051.4(ATM):c.5288_5298del (p.Tyr1763fs)
|
rs2135914733
|
|
|
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)
|
rs121434223
|
|
|
NM_000051.4(ATM):c.5314A>T (p.Lys1772Ter)
|
|
|
|
NM_000051.4(ATM):c.5318del (p.Lys1773fs)
|
rs876660289
|
|
|
NM_000051.4(ATM):c.5318dup (p.Phe1774fs)
|
rs876660289
|
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
|
NM_000051.4(ATM):c.5324del (p.Phe1774_Leu1775insTer)
|
rs2083496327
|
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
|
NM_000051.4(ATM):c.5346dup (p.Glu1783fs)
|
rs2135927478
|
|
|
NM_000051.4(ATM):c.5347_5348dup (p.Asn1784fs)
|
|
|
|
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs)
|
rs2135927504
|
|
|
NM_000051.4(ATM):c.5350_5351insGTGGAAATTTTTTGTTATGATGTCTGTGTGGAAAGCGGCTGTGCAGACATTCAATTGTTATTATTATGTCCTACAAGCATTAATTAATTAACACACTTTAGTAGGTATGTTCGCCTGTAATATTGAACGTAGGTGCGATAAATAATAGGATGGGGCAGGAATCAAAGACAGATACTGCGACATAGGGTGCTCCGGCTCCAGCGTCTCGCAATGCTATCGCGTGC (p.Asn1784delinsSerGlyAsnPheLeuLeuTer)
|
|
|
|
NM_000051.4(ATM):c.5351del (p.Asn1784fs)
|
rs1057517101
|
|
|
NM_000051.4(ATM):c.5357_5358dup (p.Glu1787fs)
|
|
|
|
NM_000051.4(ATM):c.5382del (p.Trp1795fs)
|
|
|
|
NM_000051.4(ATM):c.5383_5384del (p.Trp1795fs)
|
rs1474055596
|
|
|
NM_000051.4(ATM):c.5385G>A (p.Trp1795Ter)
|
|
|
|
NM_000051.4(ATM):c.5385del (p.Leu1794_Trp1795insTer)
|
|
|
|
NM_000051.4(ATM):c.5395dup (p.Ser1799fs)
|
rs1591712447
|
|
|
NM_000051.4(ATM):c.5396del (p.Ser1799fs)
|
rs587782812
|
|
|
NM_000051.4(ATM):c.5402del (p.Asn1801fs)
|
rs1555106438
|
|
|
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.5414G>A (p.Trp1805Ter)
|
rs879254171
|
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
|
NM_000051.4(ATM):c.5430_5431del (p.Ala1812fs)
|
rs2135929688
|
|
|
NM_000051.4(ATM):c.5435del (p.Ala1812fs)
|
|
|
|
NM_000051.4(ATM):c.5441dup (p.Leu1814fs)
|
rs1555106508
|
|
|
NM_000051.4(ATM):c.5443del (p.Asp1815fs)
|
rs878853522
|
|
|
NM_000051.4(ATM):c.5448dup (p.Gly1817fs)
|
|
|
|
NM_000051.4(ATM):c.5460dup (p.Cys1821fs)
|
rs1057516760
|
|
|
NM_000051.4(ATM):c.5473C>T (p.Gln1825Ter)
|
rs1555106553
|
|
|
NM_000051.4(ATM):c.5496+2_5496+5del
|
rs1565479572
|
|
|
NM_000051.4(ATM):c.5496+645T>G
|
|
|
|
NM_000051.4(ATM):c.5497-1G>A
|
rs876660245
|
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
|
NM_000051.4(ATM):c.5497-2A>G
|
rs786203796
|
|
|
NM_000051.4(ATM):c.5499_5509del (p.Lys1834fs)
|
|
|
|
NM_000051.4(ATM):c.549_550del (p.His183fs)
|
rs730881297
|
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
|
NM_000051.4(ATM):c.5511_5587dup (p.Ser1863delinsPheValArgLeuTyrPheHisThrTer)
|
|
|
|
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)
|
rs786204751
|
|
|
NM_000051.4(ATM):c.5516dup (p.Thr1840fs)
|
rs879254242
|
|
|
NM_000051.4(ATM):c.5521_5522del (p.Val1841fs)
|
rs1555107293
|
|
|
NM_000051.4(ATM):c.5532C>G (p.Tyr1844Ter)
|
rs2135943149
|
|
|
NM_000051.4(ATM):c.5549T>A (p.Leu1850Ter)
|
rs878853525
|
|
|
NM_000051.4(ATM):c.5549del (p.Leu1850fs)
|
rs876658287
|
|
|
NM_000051.4(ATM):c.5549dup (p.Leu1850fs)
|
rs876658287
|
|
|
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
|
NM_000051.4(ATM):c.5554dup (p.Gln1852fs)
|
rs1555107356
|
|
|
NM_000051.4(ATM):c.5561del (p.Thr1854fs)
|
|
|
|
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)
|
rs879254076
|
|
|
NM_000051.4(ATM):c.5574G>A (p.Trp1858Ter)
|
rs2135944112
|
|
|
NM_000051.4(ATM):c.557T>G (p.Leu186Ter)
|
rs1555066388
|
|
|
NM_000051.4(ATM):c.5587del (p.Ser1863fs)
|
|
|
|
NM_000051.4(ATM):c.5594_5595del (p.His1865fs)
|
rs1555107450
|
|
|
NM_000051.4(ATM):c.5599C>T (p.Gln1867Ter)
|
|
|
|
NM_000051.4(ATM):c.5599del (p.Gln1867fs)
|
|
|
|
NM_000051.4(ATM):c.5609dup (p.Thr1871fs)
|
rs2083601046
|
|
|
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
|
|
|
|
NM_000051.4(ATM):c.5626_5641del (p.His1876fs)
|
|
|
|
NM_000051.4(ATM):c.5630_5639del (p.His1876_Phe1877insTer)
|
|
|
|
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)
|
rs758852420
|
|
|
NM_000051.4(ATM):c.5637_5638del (p.Gln1879fs)
|
|
|
|
NM_000051.4(ATM):c.5649del (p.Thr1884fs)
|
rs2083605298
|
|
|
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs)
|
rs1591718522
|
|
|
NM_000051.4(ATM):c.5653del (p.Thr1885fs)
|
|
|
|
NM_000051.4(ATM):c.5653dup (p.Thr1885fs)
|
rs587778077
|
|
|
NM_000051.4(ATM):c.5657del (p.Pro1886fs)
|
rs2135946188
|
|
|
NM_000051.4(ATM):c.5674+1G>T
|
rs1565482453
|
|
|
NM_000051.4(ATM):c.5674G>T (p.Glu1892Ter)
|
|
|
|
NM_000051.4(ATM):c.5675-7_5675-4del
|
rs1189695629
|
|
|
NM_000051.4(ATM):c.5677_5680del (p.Glu1894fs)
|
rs2135975673
|
|
|
NM_000051.4(ATM):c.5678C>A (p.Ser1893Ter)
|
|
|
|
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs)
|
rs1060501580
|
|
|
NM_000051.4(ATM):c.5690del (p.Phe1897fs)
|
rs1591731851
|
|
|
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter)
|
rs753839301
|
|
|
NM_000051.4(ATM):c.5706del (p.Asp1902fs)
|
|
|
|
NM_000051.4(ATM):c.5706dup (p.Lys1903Ter)
|
|
|
|
NM_000051.4(ATM):c.5710A>T (p.Lys1904Ter)
|
|
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
|
NM_000051.4(ATM):c.5714C>G (p.Ser1905Ter)
|
|
|
|
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.571dup (p.Ile191fs)
|
|
|
|
NM_000051.4(ATM):c.5723del (p.Thr1908fs)
|
rs2135977126
|
|
|
NM_000051.4(ATM):c.5736dup (p.Val1913fs)
|
rs2135977494
|
|
|
NM_000051.4(ATM):c.5737_5743del (p.Val1913fs)
|
rs2135977542
|
|
|
NM_000051.4(ATM):c.5741del (p.Asp1914fs)
|
rs2083821626
|
|
|
NM_000051.4(ATM):c.5745C>A (p.Tyr1915Ter)
|
|
|
|
NM_000051.4(ATM):c.5745del (p.Asp1914_Tyr1915insTer)
|
rs1555109147
|
|
|
NM_000051.4(ATM):c.5750_5751del (p.Arg1917fs)
|
|
|
|
NM_000051.4(ATM):c.5755C>T (p.Gln1919Ter)
|
rs2083823146
|
|
|
NM_000051.4(ATM):c.5757_5761del (p.Lys1920fs)
|
rs1591732424
|
|
|
NM_000051.4(ATM):c.5762+1G>A
|
rs869312756
|
|
|
NM_000051.4(ATM):c.5762+1G>T
|
rs869312756
|
|
|
NM_000051.4(ATM):c.5763-1G>A
|
rs2136011029
|
|
|
NM_000051.4(ATM):c.5763-1G>C
|
|
|
|
NM_000051.4(ATM):c.5763-2A>C
|
rs876659489
|
|
|
NM_000051.4(ATM):c.5763-2A>G
|
rs876659489
|
|
|
NM_000051.4(ATM):c.5763-2A>T
|
rs876659489
|
|
|
NM_000051.4(ATM):c.5765del (p.Pro1922fs)
|
rs786202814
|
|
|
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)
|
rs876658831
|
|
|
NM_000051.4(ATM):c.5771del (p.Ser1923_Ser1924insTer)
|
|
|
|
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)
|
rs587779851
|
|
|
NM_000051.4(ATM):c.5799G>A (p.Trp1933Ter)
|
rs2084026241
|
|
|
NM_000051.4(ATM):c.5805_5812del (p.Asp1935fs)
|
rs2136013815
|
|
|
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)
|
rs1591745745
|
|
|
NM_000051.4(ATM):c.5807dup (p.Leu1936fs)
|
|
|
|
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)
|
|
|
|
NM_000051.4(ATM):c.5827A>T (p.Lys1943Ter)
|
|
|
|
NM_000051.4(ATM):c.5836_5837del (p.Gln1946fs)
|
rs2084030667
|
|
|
NM_000051.4(ATM):c.5839del (p.Ser1947fs)
|
rs2136015541
|
|
|
NM_000051.4(ATM):c.583_598del (p.Thr195fs)
|
|
|
|
NM_000051.4(ATM):c.5855_5856insCACAGCTTTACTCACTT (p.Tyr1957fs)
|
rs2136016053
|
|
|
NM_000051.4(ATM):c.5866_5870del (p.Leu1956fs)
|
|
|
|
NM_000051.4(ATM):c.5870_5871del (p.Tyr1957fs)
|
rs1060501657
|
|
|
NM_000051.4(ATM):c.587_602del (p.Lys196fs)
|
rs2135224893
|
|
|
NM_000051.4(ATM):c.5887del (p.Asp1963fs)
|
|
|
|
NM_000051.4(ATM):c.5889dup (p.Lys1964Ter)
|
rs2136018060
|
|
|
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)
|
rs201963507
|
|
|
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs)
|
rs587781727
|
|
|
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)
|
rs1555110517
|
|
|
NM_000051.4(ATM):c.5898_5901dup (p.Asp1968fs)
|
|
|
|
NM_000051.4(ATM):c.5910del (p.Glu1971fs)
|
rs587782198
|
|
|
NM_000051.4(ATM):c.5916_5917del (p.Arg1973fs)
|
rs2084040947
|
|
|
NM_000051.4(ATM):c.5931del (p.Phe1977fs)
|
rs1565493368
|
|
|
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter)
|
rs1555111763
|
|
|
NM_000051.4(ATM):c.5939del (p.Gly1980fs)
|
|
|
|
NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter)
|
rs1555111775
|
|
|
NM_000051.4(ATM):c.5945dup (p.Ser1983fs)
|
rs2136060057
|
|
|
NM_000051.4(ATM):c.5959del (p.Ser1987fs)
|
rs1555111808
|
|
|
NM_000051.4(ATM):c.5959dup (p.Ser1987fs)
|
rs1555111808
|
|
|
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)
|
rs786203404
|
|
|
NM_000051.4(ATM):c.5971dup (p.Glu1991fs)
|
rs1591758604
|
|
|
NM_000051.4(ATM):c.5977dup (p.Ser1993fs)
|
rs1591758642
|
|
|
NM_000051.4(ATM):c.5978_5981del (p.Ser1993fs)
|
rs2136061889
|
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
|
NM_000051.4(ATM):c.597T>A (p.Cys199Ter)
|
rs1565369633
|
|
|
NM_000051.4(ATM):c.5982del (p.Glu1995fs)
|
rs1555111855
|
|
|
NM_000051.4(ATM):c.5992_5993dup (p.Ile1999fs)
|
rs2084254630
|
|
|
NM_000051.4(ATM):c.6002del (p.Leu2001fs)
|
|
|
|
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter)
|
rs201136510
|
|
|
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.6013delinsAA (p.Leu2005fs)
|
rs1555113523
|
|
|
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)
|
rs1438576066
|
|
|
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)
|
rs886039666
|
|
|
NM_000051.4(ATM):c.6024del (p.Tyr2009fs)
|
rs2136118352
|
|
|
NM_000051.4(ATM):c.6027C>A (p.Tyr2009Ter)
|
rs1555113567
|
|
|
NM_000051.4(ATM):c.6027C>G (p.Tyr2009Ter)
|
rs1555113567
|
|
|
NM_000051.4(ATM):c.6029del (p.Arg2010fs)
|
|
|
|
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.6049_6052del (p.Ser2017fs)
|
rs1591776808
|
|
|
NM_000051.4(ATM):c.6049dup (p.Ser2017fs)
|
rs797045030
|
|
|
NM_000051.4(ATM):c.6054_6055del (p.Tyr2019fs)
|
|
|
|
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer)
|
rs876658548
|
|
|
NM_000051.4(ATM):c.606_615dup (p.Asn206Ter)
|
|
|
|
NM_000051.4(ATM):c.607del (p.Asp203fs)
|
rs2135225618
|
|
|
NM_000051.4(ATM):c.6080T>G (p.Leu2027Ter)
|
rs2136121259
|
|
|
NM_000051.4(ATM):c.6080del (p.Leu2027fs)
|
rs1060501548
|
|
|
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)
|
rs876659454
|
|
|
NM_000051.4(ATM):c.6082del (p.Gln2028fs)
|
rs1565499093
|
|
|
NM_000051.4(ATM):c.6087del (p.Ile2030fs)
|
|
|
|
NM_000051.4(ATM):c.6095+4A>G
|
rs1555113632
|
|
|
NM_000051.4(ATM):c.6096-9_6096-5del
|
rs879254095
|
|
|
NM_000051.4(ATM):c.6099dup (p.Arg2034fs)
|
|
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
|
NM_000051.4(ATM):c.6108T>A (p.Tyr2036Ter)
|
rs3092826
|
|
|
NM_000051.4(ATM):c.6108T>G (p.Tyr2036Ter)
|
rs3092826
|
|
|
NM_000051.4(ATM):c.610G>T (p.Gly204Ter)
|
rs147915571
|
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
|
NM_000051.4(ATM):c.6115G>T (p.Glu2039Ter)
|
rs864622251
|
|
|
NM_000051.4(ATM):c.6125G>A (p.Trp2042Ter)
|
rs1565499657
|
|
|
NM_000051.4(ATM):c.6126G>A (p.Trp2042Ter)
|
rs2084615312
|
|
|
NM_000051.4(ATM):c.6127_6131dup (p.Leu2046fs)
|
|
|
|
NM_000051.4(ATM):c.6133del (p.Ala2045fs)
|
rs1555113762
|
|
|
NM_000051.4(ATM):c.6136del (p.Ala2045_Leu2046insTer)
|
|
|
|
NM_000051.4(ATM):c.6139_6146del (p.Leu2046_Val2047insTer)
|
rs2084617417
|
|
|
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer)
|
rs1565499757
|
|
|
NM_000051.4(ATM):c.6146dup (p.Tyr2049Ter)
|
rs2084619584
|
|
|
NM_000051.4(ATM):c.614T>G (p.Leu205Ter)
|
rs2079705608
|
|
|
NM_000051.4(ATM):c.6154G>T (p.Glu2052Ter)
|
|
|
|
NM_000051.4(ATM):c.6158del (p.Thr2053fs)
|
|
|
|
NM_000051.4(ATM):c.6162_6173delinsG (p.Ile2055fs)
|
|
|
|
NM_000051.4(ATM):c.6164_6165del (p.Ile2055fs)
|
rs2084621452
|
|
|
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
|
|
|
|
NM_000051.4(ATM):c.6177dup (p.Arg2060fs)
|
rs1591779373
|
|
|
NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter)
|
rs1555113845
|
|
|
NM_000051.4(ATM):c.6184dup (p.Ala2062fs)
|
rs2136131958
|
|
|
NM_000051.4(ATM):c.6187G>T (p.Gly2063Ter)
|
rs2136132184
|
|
|
NM_000051.4(ATM):c.6196C>T (p.Gln2066Ter)
|
rs1361215494
|
|
|
NM_000051.4(ATM):c.6197_6198dup (p.Ala2067fs)
|
|
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
|
NM_000051.4(ATM):c.6198+1G>T
|
|
|
|
NM_000051.4(ATM):c.6198+1del
|
rs2136132894
|
|
|
NM_000051.4(ATM):c.6198+2T>C
|
rs1555113882
|
|
|
NM_000051.4(ATM):c.6198+2T>G
|
rs1555113882
|
|
|
NM_000051.4(ATM):c.6198+3A>G
|
rs786202092
|
|
|
NM_000051.4(ATM):c.6199-1G>A
|
|
|
|
NM_000051.4(ATM):c.6199-1G>T
|
rs1591788932
|
|
|
NM_000051.4(ATM):c.6199-2A>C
|
rs1060501570
|
|
|
NM_000051.4(ATM):c.6199-2A>T
|
rs1060501570
|
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
|
NM_000051.4(ATM):c.6205C>T (p.Gln2069Ter)
|
rs1555114563
|
|
|
NM_000051.4(ATM):c.6217del (p.Leu2073fs)
|
|
|
|
NM_000051.4(ATM):c.621del (p.Lys208fs)
|
rs2079706212
|
|
|
NM_000051.4(ATM):c.6222C>A (p.Cys2074Ter)
|
rs1565502708
|
|
|
NM_000051.4(ATM):c.6224dup (p.His2075fs)
|
|
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
|
NM_000051.4(ATM):c.622A>T (p.Lys208Ter)
|
|
|
|
NM_000051.4(ATM):c.6239_6240del (p.Tyr2080fs)
|
rs878853529
|
|
|
NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter)
|
rs2136164699
|
|
|
NM_000051.4(ATM):c.6247G>T (p.Gly2083Ter)
|
rs1060501586
|
|
|
NM_000051.4(ATM):c.6263dup (p.Asn2088fs)
|
rs2084782760
|
|
|
NM_000051.4(ATM):c.6269_6275dup (p.Cys2092Ter)
|
|
|
|
NM_000051.4(ATM):c.6272G>A (p.Trp2091Ter)
|
rs1060501712
|
|
|
NM_000051.4(ATM):c.6273G>A (p.Trp2091Ter)
|
rs2136166539
|
|
|
NM_000051.4(ATM):c.6273del (p.Trp2091fs)
|
rs1565503137
|
|
|
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)
|
rs1565503182
|
|
|
NM_000051.4(ATM):c.6280del (p.Glu2094fs)
|
rs1565503198
|
|
|
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)
|
rs1555114737
|
|
|
NM_000051.4(ATM):c.6295del (p.His2099fs)
|
rs2136167830
|
|
|
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter)
|
rs1591789955
|
|
|
NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter)
|
rs1064794143
|
|
|
NM_000051.4(ATM):c.6322C>T (p.Gln2108Ter)
|
|
|
|
NM_000051.4(ATM):c.6323dup (p.Trp2109fs)
|
rs2136169465
|
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
|
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)
|
rs587782114
|
|
|
NM_000051.4(ATM):c.6327G>A (p.Trp2109Ter)
|
rs867760244
|
|
|
NM_000051.4(ATM):c.6328dup (p.Asp2110fs)
|
|
|
|
NM_000051.4(ATM):c.6348-989del
|
|
|
|
NM_000051.4(ATM):c.6351del (p.Glu2118fs)
|
|
|
|
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.6370dup (p.Tyr2124fs)
|
rs2136219240
|
|
|
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
|
rs2085078278
|
|
|
NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)
|
|
|
|
NM_000051.4(ATM):c.6373del (p.His2125fs)
|
rs878853530
|
|
|
NM_000051.4(ATM):c.6380C>A (p.Ser2127Ter)
|
|
|
|
NM_000051.4(ATM):c.6380C>G (p.Ser2127Ter)
|
rs2136219729
|
|
|
NM_000051.4(ATM):c.6383dup (p.Leu2128fs)
|
rs1198014194
|
|
|
NM_000051.4(ATM):c.6387C>G (p.Tyr2129Ter)
|
rs2085081161
|
|
|
NM_000051.4(ATM):c.6388_6392del (p.Asn2130fs)
|
rs2136220112
|
|
|
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)
|
rs876658163
|
|
|
NM_000051.4(ATM):c.6398_6401dup (p.Leu2135fs)
|
|
|
|
NM_000051.4(ATM):c.6399del (p.Gln2133fs)
|
rs1555116451
|
|
|
NM_000051.4(ATM):c.6403_6404del (p.Leu2135fs)
|
rs2085083193
|
|
|
NM_000051.4(ATM):c.6403del (p.Ser2134_Leu2135insTer)
|
|
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
|
NM_000051.4(ATM):c.6404dup (p.Arg2136fs)
|
rs587782554
|
|
|
NM_000051.4(ATM):c.6406dup (p.Arg2136fs)
|
rs2136220927
|
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
|
NM_000051.4(ATM):c.640dup (p.Ser214fs)
|
rs786204543
|
|
|
NM_000051.4(ATM):c.6411_6414del (p.Asp2137fs)
|
|
|
|
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)
|
rs1339238483
|
|
|
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs)
|
rs863225466
|
|
|
NM_000051.4(ATM):c.6419dup (p.Ser2141fs)
|
|
|
|
NM_000051.4(ATM):c.6425_6435del (p.Thr2142fs)
|
rs2085086552
|
|
|
NM_000051.4(ATM):c.642del (p.Lys215fs)
|
rs876660315
|
|
|
NM_000051.4(ATM):c.6433G>T (p.Glu2145Ter)
|
|
|
|
NM_000051.4(ATM):c.6444dup (p.Tyr2149fs)
|
rs1555116533
|
|
|
NM_000051.4(ATM):c.6450dup (p.Arg2151fs)
|
rs2136222670
|
|
|
NM_000051.4(ATM):c.6452+1G>T
|
rs1565509194
|
|
|
NM_000051.4(ATM):c.6463_6478dup (p.Lys2160delinsSerGlyArgAspValTer)
|
rs1555117084
|
|
|
NM_000051.4(ATM):c.6468_6472dup (p.Met2158fs)
|
rs2136238826
|
|
|
NM_000051.4(ATM):c.6468del (p.Glu2157fs)
|
|
|
|
NM_000051.4(ATM):c.6469G>T (p.Glu2157Ter)
|
|
|
|
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.6502_6508del (p.Ser2168fs)
|
|
|
|
NM_000051.4(ATM):c.6514del (p.Thr2172fs)
|
|
|
|
NM_000051.4(ATM):c.6523del (p.Arg2175fs)
|
|
|
|
NM_000051.4(ATM):c.6523dup (p.Arg2175fs)
|
rs1591107480
|
|
|
NM_000051.4(ATM):c.6526_6532del (p.Leu2176fs)
|
rs2085199149
|
|
|
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)
|
rs766706861
|
|
|
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)
|
rs1555066551
|
|
|
NM_000051.4(ATM):c.6537dup (p.Gly2180fs)
|
|
|
|
NM_000051.4(ATM):c.6547G>T (p.Glu2183Ter)
|
rs2085204408
|
|
|
NM_000051.4(ATM):c.6547_6548del (p.Glu2183fs)
|
|
|
|
NM_000051.4(ATM):c.6547_6553dup (p.Ile2185fs)
|
|
|
|
NM_000051.4(ATM):c.6555dup (p.Gly2186fs)
|
rs1565511585
|
|
|
NM_000051.4(ATM):c.6560delinsGG (p.Glu2187fs)
|
|
|
|
NM_000051.4(ATM):c.6562del (p.Leu2188fs)
|
|
|
|
NM_000051.4(ATM):c.6565_6566del (p.Phe2189fs)
|
rs2136243287
|
|
|
NM_000051.4(ATM):c.6566del (p.Phe2189fs)
|
rs2136243287
|
|
|
NM_000051.4(ATM):c.6573-9G>A
|
rs1591128179
|
|
|
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter)
|
rs2136306738
|
|
|
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.6598G>T (p.Glu2200Ter)
|
rs2085552425
|
|
|
NM_000051.4(ATM):c.6606_6609del (p.Val2201_Tyr2202insTer)
|
rs2136308396
|
|
|
NM_000051.4(ATM):c.6611dup (p.Trp2205fs)
|
|
|
|
NM_000051.4(ATM):c.6612_6613insC (p.Trp2205fs)
|
|
|
|
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter)
|
rs1555119041
|
|
|
NM_000051.4(ATM):c.6616C>T (p.Gln2206Ter)
|
rs2085554912
|
|
|
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.6642delinsGA (p.Asp2214fs)
|
rs2085558165
|
|
|
NM_000051.4(ATM):c.6643_6644del (p.Asp2214_Ser2215insTer)
|
|
|
|
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)
|
rs1555066917
|
|
|
NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs)
|
rs864622326
|
|
|
NM_000051.4(ATM):c.6657del (p.Gln2220fs)
|
rs876658603
|
|
|
NM_000051.4(ATM):c.6661_6673del (p.Glu2221fs)
|
|
|
|
NM_000051.4(ATM):c.6661del (p.Glu2221fs)
|
|
|
|
NM_000051.4(ATM):c.6665_6679delinsG (p.Pro2222fs)
|
rs2085562005
|
|
|
NM_000051.4(ATM):c.6666_6668delinsAG (p.Ile2223fs)
|
|
|
|
NM_000051.4(ATM):c.6666_6669dup (p.Met2224fs)
|
|
|
|
NM_000051.4(ATM):c.6667del (p.Ile2223fs)
|
rs878853533
|
|
|
NM_000051.4(ATM):c.666del (p.Glu223fs)
|
rs2135236778
|
|
|
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer)
|
rs1591129041
|
|
|
NM_000051.4(ATM):c.6682del (p.Thr2228fs)
|
|
|
|
NM_000051.4(ATM):c.6683_6684del (p.Thr2228fs)
|
rs1565518539
|
|
|
NM_000051.4(ATM):c.6698del (p.Ile2233fs)
|
|
|
|
NM_000051.4(ATM):c.669_673del (p.Lys224fs)
|
|
|
|
NM_000051.4(ATM):c.66del (p.Glu22fs)
|
rs2135006691
|
|
|
NM_000051.4(ATM):c.6700del (p.Ile2233_Leu2234insTer)
|
rs2085567158
|
|
|
NM_000051.4(ATM):c.6706del (p.Glu2236fs)
|
rs2136313589
|
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
|
NM_000051.4(ATM):c.6710_6719del (p.Lys2237fs)
|
|
|
|
NM_000051.4(ATM):c.6716dup (p.Met2239fs)
|
|
|
|
NM_000051.4(ATM):c.6725C>A (p.Ser2242Ter)
|
|
|
|
NM_000051.4(ATM):c.6727C>T (p.Gln2243Ter)
|
rs1565518711
|
|
|
NM_000051.4(ATM):c.6728_6755del (p.Gln2243fs)
|
rs2136314501
|
|
|
NM_000051.4(ATM):c.6729_6730del (p.Glu2245fs)
|
rs1060501543
|
|
|
NM_000051.4(ATM):c.6733G>T (p.Glu2245Ter)
|
|
|
|
NM_000051.4(ATM):c.6735dup (p.Cys2246fs)
|
rs2136315218
|
|
|
NM_000051.4(ATM):c.6742A>T (p.Lys2248Ter)
|
|
|
|
NM_000051.4(ATM):c.6750del (p.Leu2251fs)
|
|
|
|
NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs)
|
rs863224461
|
|
|
NM_000051.4(ATM):c.6754del (p.Thr2252fs)
|
rs1064793042
|
|
|
NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter)
|
rs863224578
|
|
|
NM_000051.4(ATM):c.6757_6763del (p.Lys2253fs)
|
|
|
|
NM_000051.4(ATM):c.6765del (p.Leu2255_Val2256insTer)
|
rs949695076
|
|
|
NM_000051.4(ATM):c.6769G>T (p.Glu2257Ter)
|
rs2136317336
|
|
|
NM_000051.4(ATM):c.6776_6777del (p.Ser2259fs)
|
rs1131691156
|
|
|
NM_000051.4(ATM):c.6794_6795del (p.Thr2264_Phe2265insTer)
|
|
|
|
NM_000051.4(ATM):c.6795_6796insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGATCCACCCGCCGCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTATGGCCAGAACTTTC (p.Phe2265_Lys2266insPhePhePhePhePhePheXaaXaaXaaXaaHisAspProProAlaAlaAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProMetAlaArgThrPhe)
|
|
|
|
NM_000051.4(ATM):c.6797_6798delinsC (p.Lys2266fs)
|
rs1555119364
|
|
|
NM_000051.4(ATM):c.6805C>T (p.Gln2269Ter)
|
rs2085584895
|
|
|
NM_000051.4(ATM):c.6808-242_7516-275del
|
|
|
|
NM_000051.4(ATM):c.680C>G (p.Ser227Ter)
|
rs762998620
|
|
|
NM_000051.4(ATM):c.680del (p.Ser226_Ser227insTer)
|
rs879254070
|
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
|
NM_000051.4(ATM):c.681dup (p.Gly228fs)
|
rs1591503359
|
|
|
NM_000051.4(ATM):c.6828_6829insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGTGGAATTTGTGCAGGTTAGTTAAATATGTATACATGTGCCATGATGGTCCGCTGCACACACTAATGTTTCATCTAGACATAGGTATATCTCGAAAGGGCAATATTT (p.Gln2277delinsPhePhePhePhePhePheXaaXaaXaaXaaCysGlyIleCysAlaGlyTer)
|
|
|
|
NM_000051.4(ATM):c.6829C>T (p.Gln2277Ter)
|
|
|
|
NM_000051.4(ATM):c.6829del (p.Gln2277fs)
|
rs2136332132
|
|
|
NM_000051.4(ATM):c.6837dup (p.Gln2280fs)
|
|
|
|
NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter)
|
rs1565520246
|
|
|
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs)
|
rs2136332542
|
|
|
NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter)
|
rs1555119797
|
|
|
NM_000051.4(ATM):c.6843del (p.Gln2280_Tyr2281insTer)
|
rs1565520291
|
|
|
NM_000051.4(ATM):c.6850del (p.Val2284fs)
|
rs876659569
|
|
|
NM_000051.4(ATM):c.6863del (p.Val2288fs)
|
rs2085652979
|
|
|
NM_000051.4(ATM):c.6866_6867del (p.Val2288_Ser2289insTer)
|
rs886039701
|
|
|
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)
|
rs1555119834
|
|
|
NM_000051.4(ATM):c.6880del (p.Glu2294fs)
|
|
|
|
NM_000051.4(ATM):c.6889C>T (p.Gln2297Ter)
|
|
|
|
NM_000051.4(ATM):c.6899G>A (p.Trp2300Ter)
|
|
|
|
NM_000051.4(ATM):c.689del (p.Asn230fs)
|
rs1057518965
|
|
|
NM_000051.4(ATM):c.6901del (p.Ala2301fs)
|
|
|
|
NM_000051.4(ATM):c.6904A>T (p.Lys2302Ter)
|
rs2085658893
|
|
|
NM_000051.4(ATM):c.6907A>T (p.Lys2303Ter)
|
|
|
|
NM_000051.4(ATM):c.6908dup (p.Glu2304fs)
|
rs773570504
|
|
|
NM_000051.4(ATM):c.6910del (p.Glu2304fs)
|
rs1555119940
|
|
|
NM_000051.4(ATM):c.6912_6913delinsTT (p.Glu2304_Gln2305delinsAspTer)
|
|
|
|
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)
|
rs1282099124
|
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
|
NM_000051.4(ATM):c.6917_6920del (p.Ser2306fs)
|
|
|
|
NM_000051.4(ATM):c.6922del (p.Ala2308fs)
|
rs2136337304
|
|
|
NM_000051.4(ATM):c.6928_6929del (p.Ser2310fs)
|
rs2085663022
|
|
|
NM_000051.4(ATM):c.6933dup (p.Leu2312fs)
|
|
|
|
NM_000051.4(ATM):c.6937A>T (p.Lys2313Ter)
|
rs2136338211
|
|
|
NM_000051.4(ATM):c.6952A>T (p.Lys2318Ter)
|
|
|
|
NM_000051.4(ATM):c.6976-1G>A
|
rs1591141963
|
|
|
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>T
|
rs587782403
|
|
|
NM_000051.4(ATM):c.6978del (p.Asn2326fs)
|
|
|
|
NM_000051.4(ATM):c.6981_6982dup (p.Pro2328fs)
|
|
|
|
NM_000051.4(ATM):c.6991_6997del (p.Lys2331fs)
|
|
|
|
NM_000051.4(ATM):c.6996dup (p.Thr2333fs)
|
rs2136373820
|
|
|
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)
|
rs786203421
|
|
|
NM_000051.4(ATM):c.7002C>G (p.Tyr2334Ter)
|
rs2136374351
|
|
|
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)
|
rs864622416
|
|
|
NM_000051.4(ATM):c.7010_7065dup (p.Ile2356delinsValTer)
|
rs1555120985
|
|
|
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)
|
rs1591142418
|
|
|
NM_000051.4(ATM):c.7021dup (p.Cys2341fs)
|
rs2136375625
|
|
|
NM_000051.4(ATM):c.7025del (p.Gly2342fs)
|
rs2136375832
|
|
|
NM_000051.4(ATM):c.7026dup (p.Asn2343fs)
|
rs1555121020
|
|
|
NM_000051.4(ATM):c.7032del (p.Trp2344fs)
|
|
|
|
NM_000051.4(ATM):c.704del (p.Ala235fs)
|
rs1591503565
|
|
|
NM_000051.4(ATM):c.7066_7081del (p.Val2355_Ile2356insTer)
|
rs886039502
|
|
|
NM_000051.4(ATM):c.706dup (p.Leu236fs)
|
rs2135238203
|
|
|
NM_000051.4(ATM):c.7072C>T (p.Gln2358Ter)
|
|
|
|
NM_000051.4(ATM):c.7077_7078dup (p.Tyr2360fs)
|
rs2136379109
|
|
|
NM_000051.4(ATM):c.7078_7079delinsG (p.Tyr2360fs)
|
|
|
|
NM_000051.4(ATM):c.7080T>G (p.Tyr2360Ter)
|
rs1555121147
|
|
|
NM_000051.4(ATM):c.7088del (p.Lys2363fs)
|
rs876658512
|
|
|
NM_000051.4(ATM):c.7091del (p.Ala2364fs)
|
rs878853538
|
|
|
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)
|
rs587781672
|
|
|
NM_000051.4(ATM):c.709dup (p.Thr237fs)
|
rs2079758064
|
|
|
NM_000051.4(ATM):c.710del (p.Thr237fs)
|
rs1060501642
|
|
|
NM_000051.4(ATM):c.7113T>A (p.Tyr2371Ter)
|
|
|
|
NM_000051.4(ATM):c.7113T>G (p.Tyr2371Ter)
|
rs760534895
|
|
|
NM_000051.4(ATM):c.7125del (p.Ser2375fs)
|
rs2136412237
|
|
|
NM_000051.4(ATM):c.712_713del (p.Ile238fs)
|
|
|
|
NM_000051.4(ATM):c.7138A>T (p.Arg2380Ter)
|
|
|
|
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)
|
rs1555122030
|
|
|
NM_000051.4(ATM):c.7142dup (p.Asn2381fs)
|
rs2136413158
|
|
|
NM_000051.4(ATM):c.7150dup (p.Met2384fs)
|
|
|
|
NM_000051.4(ATM):c.7154del (p.Lys2385fs)
|
|
|
|
NM_000051.4(ATM):c.7159_7160insAGCC (p.Phe2387Ter)
|
rs1591150887
|
|
|
NM_000051.4(ATM):c.7163_7166del (p.Leu2388fs)
|
rs2085980902
|
|
|
NM_000051.4(ATM):c.7165dup (p.Ser2389fs)
|
|
|
|
NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter)
|
rs1018140779
|
|
|
NM_000051.4(ATM):c.716del (p.Phe239fs)
|
rs2079758855
|
|
|
NM_000051.4(ATM):c.717_720del (p.Phe239fs)
|
rs587782660
|
|
|
NM_000051.4(ATM):c.7186del (p.Thr2396fs)
|
rs1555122092
|
|
|
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
|
|
|
|
NM_000051.4(ATM):c.7189C>T (p.Gln2397Ter)
|
rs747372355
|
|
|
NM_000051.4(ATM):c.7193dup (p.Tyr2398Ter)
|
|
|
|
NM_000051.4(ATM):c.7194C>A (p.Tyr2398Ter)
|
rs1591151199
|
|
|
NM_000051.4(ATM):c.7194C>G (p.Tyr2398Ter)
|
|
|
|
NM_000051.4(ATM):c.7195C>T (p.Gln2399Ter)
|
rs2085985186
|
|
|
NM_000051.4(ATM):c.71del (p.Lys24fs)
|
|
|
|
NM_000051.4(ATM):c.72+1G>T
|
rs786204088
|
|
|
NM_000051.4(ATM):c.72+1del
|
|
|
|
NM_000051.4(ATM):c.72+2T>C
|
rs1591446206
|
|
|
NM_000051.4(ATM):c.7201del (p.Ile2401fs)
|
|
|
|
NM_000051.4(ATM):c.7203del (p.Ile2401fs)
|
rs2136417490
|
|
|
NM_000051.4(ATM):c.7204G>T (p.Glu2402Ter)
|
rs2085987831
|
|
|
NM_000051.4(ATM):c.721_722insT (p.Lys241fs)
|
|
|
|
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)
|
rs1555122149
|
|
|
NM_000051.4(ATM):c.7223_7225del (p.Ser2408_Glu2409delinsTer)
|
|
|
|
NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter)
|
rs863224462
|
|
|
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs)
|
rs1591151678
|
|
|
NM_000051.4(ATM):c.7247_7248del (p.Leu2416fs)
|
|
|
|
NM_000051.4(ATM):c.7249del (p.Leu2416_Leu2417insTer)
|
|
|
|
NM_000051.4(ATM):c.7261_7262insT (p.Lys2421fs)
|
rs1591151905
|
|
|
NM_000051.4(ATM):c.7267G>T (p.Glu2423Ter)
|
rs1555122245
|
|
|
NM_000051.4(ATM):c.7267_7270delinsTAC (p.Glu2423fs)
|
rs1591152021
|
|
|
NM_000051.4(ATM):c.7274del (p.Gly2425fs)
|
rs1565527283
|
|
|
NM_000051.4(ATM):c.7279_7284del (p.Leu2427_Arg2428del)
|
rs796051856
|
|
|
NM_000051.4(ATM):c.7285del (p.Glu2429fs)
|
rs2136422907
|
|
|
NM_000051.4(ATM):c.7288del (p.His2430fs)
|
rs2136423257
|
|
|
NM_000051.4(ATM):c.728dup (p.Leu243fs)
|
rs2135238938
|
|
|
NM_000051.4(ATM):c.7293_7294del (p.Lys2431fs)
|
rs1060501525
|
|
|
NM_000051.4(ATM):c.7296del (p.Gln2433fs)
|
rs2136423623
|
|
|
NM_000051.4(ATM):c.7297C>T (p.Gln2433Ter)
|
|
|
|
NM_000051.4(ATM):c.7297del (p.Gln2433fs)
|
rs2136423753
|
|
|
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs)
|
rs886039628
|
|
|
NM_000051.4(ATM):c.7299del (p.Thr2434fs)
|
|
|
|
NM_000051.4(ATM):c.729_741del (p.Leu243fs)
|
rs2079760023
|
|
|
NM_000051.4(ATM):c.72G>A (p.Lys24=)
|
|
|
|
NM_000051.4(ATM):c.72G>C (p.Lys24Asn)
|
|
|
|
NM_000051.4(ATM):c.73-1G>A
|
rs1555054043
|
|
|
NM_000051.4(ATM):c.73-1G>C
|
|
|
|
NM_000051.4(ATM):c.73-2A>G
|
|
|
|
NM_000051.4(ATM):c.73-3C>G
|
rs1555054039
|
|
|
NM_000051.4(ATM):c.7307+1G>A
|
rs2086003529
|
|
|
NM_000051.4(ATM):c.7307+2dup
|
rs2086004268
|
|
|
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)
|
rs786203394
|
|
|
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)
|
rs763470424
|
|
|
NM_000051.4(ATM):c.7311_7314del (p.Arg2436_Tyr2437insTer)
|
rs1591159614
|
|
|
NM_000051.4(ATM):c.7313_7314dup (p.Val2439fs)
|
rs1591159614
|
|
|
NM_000051.4(ATM):c.7325_7326insCAACCAACACA (p.Gln2442fs)
|
rs2136452719
|
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
|
NM_000051.4(ATM):c.7336G>T (p.Glu2446Ter)
|
|
|
|
NM_000051.4(ATM):c.7338dup (p.Leu2447fs)
|
|
|
|
NM_000051.4(ATM):c.7340T>A (p.Leu2447Ter)
|
|
|
|
NM_000051.4(ATM):c.7349T>A (p.Leu2450Ter)
|
|
|
|
NM_000051.4(ATM):c.7356dup (p.Arg2453fs)
|
rs2086116982
|
|
|
NM_000051.4(ATM):c.7358_7383delinsTAA (p.Arg2453fs)
|
rs2086117562
|
|
|
NM_000051.4(ATM):c.7359del (p.Ala2454fs)
|
|
|
|
NM_000051.4(ATM):c.7370_7371del (p.Glu2457fs)
|
rs1591160284
|
|
|
NM_000051.4(ATM):c.7370_7371dup (p.Asp2458fs)
|
|
|
|
NM_000051.4(ATM):c.7376del (p.Arg2459fs)
|
rs2086120321
|
|
|
NM_000051.4(ATM):c.737_738insAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGACTTTGGCTGTCAA (p.Asn246fs)
|
|
|
|
NM_000051.4(ATM):c.7380del (p.Lys2460fs)
|
rs2136456432
|
|
|
NM_000051.4(ATM):c.7387_7394del (p.Leu2463fs)
|
|
|
|
NM_000051.4(ATM):c.7391_7412del (p.Cys2464fs)
|
rs1064794690
|
|
|
NM_000051.4(ATM):c.7406dup (p.Asn2469fs)
|
rs2086123262
|
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
|
NM_000051.4(ATM):c.7417del (p.Cys2473fs)
|
rs2086125359
|
|
|
NM_000051.4(ATM):c.7424T>G (p.Leu2475Ter)
|
rs1224883896
|
|
|
NM_000051.4(ATM):c.7425_7429del (p.Ser2476fs)
|
rs2136459200
|
|
|
NM_000051.4(ATM):c.7437del (p.Glu2479fs)
|
|
|
|
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)
|
rs769166447
|
|
|
NM_000051.4(ATM):c.7448G>A (p.Trp2483Ter)
|
rs2136460393
|
|
|
NM_000051.4(ATM):c.7450dup (p.Val2484fs)
|
|
|
|
NM_000051.4(ATM):c.7453_7456dup (p.Arg2486fs)
|
|
|
|
NM_000051.4(ATM):c.7456del (p.Arg2486fs)
|
|
|
|
NM_000051.4(ATM):c.7469dup (p.Trp2491fs)
|
rs1591161290
|
|
|
NM_000051.4(ATM):c.7473G>A (p.Trp2491Ter)
|
|
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
|
NM_000051.4(ATM):c.7495G>T (p.Glu2499Ter)
|
rs2136463344
|
|
|
NM_000051.4(ATM):c.7504_7510del (p.Asn2501_Gly2502insTer)
|
rs2086137107
|
|
|
NM_000051.4(ATM):c.7507del (p.Gly2502_Met2503insTer)
|
|
|
|
NM_000051.4(ATM):c.7510dup (p.Met2504fs)
|
rs1591161769
|
|
|
NM_000051.4(ATM):c.7515+1G>T
|
rs1591161831
|
|
|
NM_000051.4(ATM):c.7515+1del
|
rs2136465036
|
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
|
NM_000051.4(ATM):c.7519_7520del
|
rs587781905
|
|
|
NM_000051.4(ATM):c.7526dup (p.Met2509fs)
|
|
|
|
NM_000051.4(ATM):c.7533del (p.Pro2512fs)
|
|
|
|
NM_000051.4(ATM):c.753del (p.Cys252fs)
|
rs2135239839
|
|
|
NM_000051.4(ATM):c.7542T>G (p.Tyr2514Ter)
|
rs777925486
|
|
|
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer)
|
rs1555123981
|
|
|
NM_000051.4(ATM):c.7549_7562delinsATG (p.Leu2517fs)
|
rs1591167422
|
|
|
NM_000051.4(ATM):c.7550_7551del (p.Leu2517fs)
|
|
|
|
NM_000051.4(ATM):c.7550del (p.Leu2517fs)
|
rs2136492942
|
|
|
NM_000051.4(ATM):c.7554del (p.Met2520fs)
|
|
|
|
NM_000051.4(ATM):c.7557dup (p.Met2520fs)
|
rs2136493530
|
|
|
NM_000051.4(ATM):c.7563C>G (p.Tyr2521Ter)
|
rs772228129
|
|
|
NM_000051.4(ATM):c.7564del (p.Gln2522fs)
|
|
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
|
NM_000051.4(ATM):c.757G>T (p.Glu253Ter)
|
|
|
|
NM_000051.4(ATM):c.7585del (p.Thr2529fs)
|
|
|
|
NM_000051.4(ATM):c.7588A>T (p.Lys2530Ter)
|
|
|
|
NM_000051.4(ATM):c.7599del (p.Gly2534fs)
|
rs2136497216
|
|
|
NM_000051.4(ATM):c.75_78del
|
rs1565344409
|
|
|
NM_000051.4(ATM):c.7603dup (p.Leu2535fs)
|
rs2136497534
|
|
|
NM_000051.4(ATM):c.7606G>T (p.Gly2536Ter)
|
rs2136497891
|
|
|
NM_000051.4(ATM):c.7608del (p.His2538fs)
|
rs1565532554
|
|
|
NM_000051.4(ATM):c.7615G>T (p.Glu2539Ter)
|
|
|
|
NM_000051.4(ATM):c.7629+1G>A
|
rs1565532703
|
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
|
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.7631del (p.Leu2544fs)
|
rs1591171040
|
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
|
NM_000051.4(ATM):c.7655_7656insGA (p.His2552fs)
|
rs1565533629
|
|
|
NM_000051.4(ATM):c.7660del (p.His2554fs)
|
rs2086289400
|
|
|
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer)
|
rs1555124503
|
|
|
NM_000051.4(ATM):c.7666_7684del (p.Thr2556fs)
|
rs2136518319
|
|
|
NM_000051.4(ATM):c.7669_7670del (p.Leu2557fs)
|
rs1565533778
|
|
|
NM_000051.4(ATM):c.7670T>A (p.Leu2557Ter)
|
rs2086293039
|
|
|
NM_000051.4(ATM):c.7670del (p.Leu2557fs)
|
rs1565533778
|
|
|
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)
|
rs1555124506
|
|
|
NM_000051.4(ATM):c.7675del (p.Ile2559fs)
|
|
|
|
NM_000051.4(ATM):c.7676_7680del (p.Ile2559fs)
|
rs2136519174
|
|
|
NM_000051.4(ATM):c.7679dup (p.Leu2561fs)
|
rs2136519577
|
|
|
NM_000051.4(ATM):c.7688T>A (p.Leu2563Ter)
|
|
|
|
NM_000051.4(ATM):c.7688_7689delinsAG (p.Leu2563Ter)
|
|
|
|
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
|
NM_000051.4(ATM):c.769G>T (p.Glu257Ter)
|
rs1565371596
|
|
|
NM_000051.4(ATM):c.76G>T (p.Glu26Ter)
|
|
|
|
NM_000051.4(ATM):c.76_79del (p.Glu26fs)
|
rs2078816952
|
|
|
NM_000051.4(ATM):c.7701_7702del (p.Asn2567fs)
|
rs1064793359
|
|
|
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)
|
rs759965045
|
|
|
NM_000051.4(ATM):c.7705del (p.Asp2569fs)
|
rs2136522117
|
|
|
NM_000051.4(ATM):c.7706del (p.Asp2569fs)
|
rs2086299809
|
|
|
NM_000051.4(ATM):c.7725del (p.Glu2576fs)
|
|
|
|
NM_000051.4(ATM):c.7750dup (p.Thr2584fs)
|
|
|
|
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)
|
rs2086308918
|
|
|
NM_000051.4(ATM):c.7760_7761insCAATAACTAAAAATGT (p.Val2587_Pro2588insAsnAsnTer)
|
rs2136525978
|
|
|
NM_000051.4(ATM):c.7764del (p.Lys2589fs)
|
|
|
|
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)
|
rs1591172641
|
|
|
NM_000051.4(ATM):c.7767del (p.Lys2589fs)
|
rs1057517025
|
|
|
NM_000051.4(ATM):c.7768C>T (p.Gln2590Ter)
|
rs876659561
|
|
|
NM_000051.4(ATM):c.7788+3A>G
|
rs869312788
|
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
|
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)
|
rs138941496
|
|
|
NM_000051.4(ATM):c.7792del (p.Arg2598fs)
|
rs1591178022
|
|
|
NM_000051.4(ATM):c.7829_7830del (p.Arg2610fs)
|
rs2086410142
|
|
|
NM_000051.4(ATM):c.7831del (p.Ser2611fs)
|
|
|
|
NM_000051.4(ATM):c.7834del (p.Arg2612fs)
|
rs2086411154
|
|
|
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)
|
rs730881293
|
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
|
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)
|
rs864622163
|
|
|
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val)
|
rs766351395
|
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
|
NM_000051.4(ATM):c.7879T>C (p.Tyr2627His)
|
rs2086422796
|
|
|
NM_000051.4(ATM):c.787del (p.Leu263fs)
|
|
|
|
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>A (p.Leu2630Ter)
|
rs1591178998
|
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
|
NM_000051.4(ATM):c.7915A>T (p.Lys2639Ter)
|
rs2136572656
|
|
|
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.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.7953del (p.Gln2651fs)
|
rs2136612771
|
|
|
NM_000051.4(ATM):c.7960dup (p.Thr2654fs)
|
rs2136613666
|
|
|
NM_000051.4(ATM):c.7963A>T (p.Lys2655Ter)
|
rs1289658632
|
|
|
NM_000051.4(ATM):c.7966_7970del (p.Leu2656fs)
|
|
|
|
NM_000051.4(ATM):c.7969_7975del (p.Leu2656_Lys2657insTer)
|
|
|
|
NM_000051.4(ATM):c.7975_7976insSVAelement
|
rs2086551043
|
|
|
NM_000051.4(ATM):c.7976T>G (p.Leu2659Ter)
|
rs1565538536
|
|
|
NM_000051.4(ATM):c.7976dup (p.Leu2659fs)
|
|
|
|
NM_000051.4(ATM):c.7978del (p.Glu2660fs)
|
rs1591184471
|
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
|
NM_000051.4(ATM):c.7988_7991del (p.Val2663fs)
|
rs587776550
|
|
|
NM_000051.4(ATM):c.798G>A (p.Trp266Ter)
|
rs2079766417
|
|
|
NM_000051.4(ATM):c.7998dup (p.Met2667fs)
|
rs587779869
|
|
|
NM_000051.4(ATM):c.8011-1G>T
|
rs1555127017
|
|
|
NM_000051.4(ATM):c.8011-2A>C
|
rs1591190908
|
|
|
NM_000051.4(ATM):c.8011-2A>G
|
rs1591190908
|
|
|
NM_000051.4(ATM):c.801_802del (p.Gln268fs)
|
|
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
|
|
NM_000051.4(ATM):c.8030delinsGTG (p.Tyr2677fs)
|
rs2086671320
|
|
|
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs)
|
rs587780640
|
|
|
NM_000051.4(ATM):c.8043dup (p.Thr2682fs)
|
rs2086672570
|
|
|
NM_000051.4(ATM):c.8047dup (p.Ile2683fs)
|
rs2086674096
|
|
|
NM_000051.4(ATM):c.8048_8049del (p.Ile2683fs)
|
rs1565540673
|
|
|
NM_000051.4(ATM):c.8049_8056dup (p.Phe2686fs)
|
|
|
|
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)
|
rs1555127102
|
|
|
NM_000051.4(ATM):c.8050_8051del (p.Gln2684fs)
|
rs2086675006
|
|
|
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs)
|
rs1591191412
|
|
|
NM_000051.4(ATM):c.8055dup (p.Phe2686fs)
|
|
|
|
NM_000051.4(ATM):c.8059_8060insT (p.Lys2687fs)
|
|
|
|
NM_000051.4(ATM):c.805_808dup (p.Arg270delinsThrTer)
|
|
|
|
NM_000051.4(ATM):c.8080G>T (p.Gly2694Ter)
|
rs1555127157
|
|
|
NM_000051.4(ATM):c.8082del (p.Gly2695fs)
|
|
|
|
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)
|
rs758588019
|
|
|
NM_000051.4(ATM):c.8102_8103insTA (p.Ile2702fs)
|
rs2136661064
|
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
|
NM_000051.4(ATM):c.8103delinsTAT (p.Ile2702_Asp2703insTer)
|
|
|
|
NM_000051.4(ATM):c.8110dup (p.Cys2704fs)
|
rs2136661900
|
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
|
NM_000051.4(ATM):c.8124T>A (p.Asp2708Glu)
|
rs587781990
|
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
|
NM_000051.4(ATM):c.8131G>T (p.Glu2711Ter)
|
|
|
|
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs)
|
rs2136663735
|
|
|
NM_000051.4(ATM):c.8136_8142del (p.Arg2712fs)
|
|
|
|
NM_000051.4(ATM):c.8136del (p.Arg2713fs)
|
|
|
|
NM_000051.4(ATM):c.8139_8142dup (p.Leu2715fs)
|
|
|
|
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)
|
rs1060501695
|
|
|
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>A
|
rs1591192583
|
|
|
NM_000051.4(ATM):c.8151+2T>C
|
rs2136665852
|
|
|
NM_000051.4(ATM):c.8151G>A (p.Lys2717=)
|
rs1591192550
|
|
|
NM_000051.4(ATM):c.8152-1G>A
|
rs1398616877
|
|
|
NM_000051.4(ATM):c.8152-1G>C
|
rs1398616877
|
|
|
NM_000051.4(ATM):c.8152-1G>T
|
rs1398616877
|
|
|
NM_000051.4(ATM):c.8152-2A>C
|
|
|
|
NM_000051.4(ATM):c.8152-2A>G
|
rs777602049
|
|
|
NM_000051.4(ATM):c.8155del (p.Arg2719fs)
|
|
|
|
NM_000051.4(ATM):c.8170C>T (p.Gln2724Ter)
|
rs2086784990
|
|
|
NM_000051.4(ATM):c.8182dup (p.Met2728fs)
|
rs2136693800
|
|
|
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)
|
rs587781967
|
|
|
NM_000051.4(ATM):c.8188C>T (p.Gln2730Ter)
|
rs587782317
|
|
|
NM_000051.4(ATM):c.8192_8194delinsCC (p.Val2731fs)
|
rs2086789644
|
|
|
NM_000051.4(ATM):c.8197C>T (p.Gln2733Ter)
|
|
|
|
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)
|
rs1555128432
|
|
|
NM_000051.4(ATM):c.8206_8207dup (p.Asn2736fs)
|
rs587782525
|
|
|
NM_000051.4(ATM):c.8207del (p.Asn2736fs)
|
rs587782525
|
|
|
NM_000051.4(ATM):c.8212_8213insA (p.Leu2738fs)
|
|
|
|
NM_000051.4(ATM):c.8213_8249dup (p.Leu2750delinsPheThrAlaGluLysHisGlyAsnTer)
|
rs2086793763
|
|
|
NM_000051.4(ATM):c.8218C>T (p.Gln2740Ter)
|
rs866402530
|
|
|
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs)
|
rs1162534390
|
|
|
NM_000051.4(ATM):c.8238del (p.Lys2747fs)
|
|
|
|
NM_000051.4(ATM):c.8239A>T (p.Lys2747Ter)
|
rs2136698578
|
|
|
NM_000051.4(ATM):c.8240dup (p.Arg2748fs)
|
rs1591199097
|
|
|
NM_000051.4(ATM):c.8247del (p.Lys2749fs)
|
rs2136698948
|
|
|
NM_000051.4(ATM):c.8249del (p.Lys2749_Leu2750insTer)
|
rs1565543844
|
|
|
NM_000051.4(ATM):c.8249dup (p.Leu2750fs)
|
rs1565543844
|
|
|
NM_000051.4(ATM):c.824_825insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTATGATTCTTT (p.Leu275delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuTer)
|
rs2135241864
|
|
|
NM_000051.4(ATM):c.824_825insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGATTCTTT (p.Leu275delinsPhePhePhePhePhePhePheXaaXaaXaaXaaAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
|
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)
|
rs864622389
|
|
|
NM_000051.4(ATM):c.8253dup (p.Ile2752fs)
|
|
|
|
NM_000051.4(ATM):c.8258del (p.Cys2753fs)
|
rs2086801267
|
|
|
NM_000051.4(ATM):c.825_849dup (p.Gln284delinsLysArgSerHisTyrTer)
|
rs1591504396
|
|
|
NM_000051.4(ATM):c.8264del (p.Tyr2755fs)
|
|
|
|
NM_000051.4(ATM):c.8264dup (p.Tyr2755Ter)
|
|
|
|
NM_000051.4(ATM):c.8265T>A (p.Tyr2755Ter)
|
rs758654836
|
|
|
NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter)
|
rs758654836
|
|
|
NM_000051.4(ATM):c.8267A>G (p.Lys2756Arg)
|
rs1555128635
|
|
|
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)
|
rs1555128642
|
|
|
NM_000051.4(ATM):c.8269-1G>A
|
|
|
|
NM_000051.4(ATM):c.8269-1G>C
|
rs1565557607
|
|
|
NM_000051.4(ATM):c.8269-2A>T
|
rs2136939497
|
|
|
NM_000051.4(ATM):c.8278del (p.Leu2760fs)
|
rs1486627670
|
|
|
NM_000051.4(ATM):c.8281_8284del (p.Gln2762fs)
|
rs775899653
|
|
|
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs)
|
rs775899653
|
|
|
NM_000051.4(ATM):c.8284C>T (p.Gln2762Ter)
|
rs751574257
|
|
|
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)
|
rs876659872
|
|
|
NM_000051.4(ATM):c.8287del (p.Arg2763fs)
|
|
|
|
NM_000051.4(ATM):c.8288del (p.Arg2763fs)
|
rs886039630
|
|
|
NM_000051.4(ATM):c.828del (p.Glu277fs)
|
|
|
|
NM_000051.4(ATM):c.8291GTG[1] (p.Gly2765del)
|
rs1565557806
|
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
|
NM_000051.4(ATM):c.8301_8344dup (p.Asn2782fs)
|
|
|
|
NM_000051.4(ATM):c.8302G>T (p.Glu2768Ter)
|
rs1555135513
|
|
|
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs)
|
rs786202318
|
|
|
NM_000051.4(ATM):c.8305del (p.Trp2769fs)
|
|
|
|
NM_000051.4(ATM):c.8319_8323dup (p.Pro2775fs)
|
rs1555135596
|
|
|
NM_000051.4(ATM):c.8321_8322delinsA (p.Val2774fs)
|
rs1060501630
|
|
|
NM_000051.4(ATM):c.8325del (p.Ile2776fs)
|
rs886039623
|
|
|
NM_000051.4(ATM):c.8343del (p.Asn2782fs)
|
|
|
|
NM_000051.4(ATM):c.8357del (p.Gly2786fs)
|
rs2136948126
|
|
|
NM_000051.4(ATM):c.8367delinsTT (p.Lys2789fs)
|
rs786202418
|
|
|
NM_000051.4(ATM):c.8368del (p.Arg2790fs)
|
rs2136948975
|
|
|
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs)
|
rs1064793046
|
|
|
NM_000051.4(ATM):c.8372dup (p.Tyr2791Ter)
|
|
|
|
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)
|
rs1060504292
|
|
|
NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter)
|
rs1060504292
|
|
|
NM_000051.4(ATM):c.8373del (p.Arg2790_Tyr2791insTer)
|
rs2136949935
|
|
|
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.8397del (p.Gln2800fs)
|
rs587781837
|
|
|
NM_000051.4(ATM):c.8398C>T (p.Gln2800Ter)
|
rs2136952289
|
|
|
NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter)
|
rs1555135852
|
|
|
NM_000051.4(ATM):c.8413dup (p.Met2805fs)
|
rs2136953216
|
|
|
NM_000051.4(ATM):c.8414del (p.Met2805fs)
|
rs2087842345
|
|
|
NM_000051.4(ATM):c.8416_8418+5del
|
rs1591249480
|
|
|
NM_000051.4(ATM):c.8418+2T>C
|
rs1060501713
|
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
|
NM_000051.4(ATM):c.8418+704G>T
|
|
|
|
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile)
|
rs762744146
|
|
|
NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter)
|
rs1555137929
|
|
|
NM_000051.4(ATM):c.841G>T (p.Glu281Ter)
|
rs1591504491
|
|
|
NM_000051.4(ATM):c.841_845del (p.Glu281fs)
|
|
|
|
NM_000051.4(ATM):c.8423dup (p.Gln2809fs)
|
|
|
|
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)
|
rs1555137973
|
|
|
NM_000051.4(ATM):c.8431A>T (p.Lys2811Ter)
|
rs1131691158
|
|
|
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs)
|
rs587782558
|
|
|
NM_000051.4(ATM):c.8431_8432delinsT (p.Lys2811fs)
|
|
|
|
NM_000051.4(ATM):c.8432del (p.Lys2811fs)
|
rs587782558
|
|
|
NM_000051.4(ATM):c.8432dup (p.Ser2812fs)
|
rs587782558
|
|
|
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs)
|
rs767533596
|
|
|
NM_000051.4(ATM):c.8438_8439del (p.Ser2812_Phe2813insTer)
|
rs991405942
|
|
|
NM_000051.4(ATM):c.8439del (p.Phe2813fs)
|
rs991405942
|
|
|
NM_000051.4(ATM):c.8440G>T (p.Glu2814Ter)
|
|
|
|
NM_000051.4(ATM):c.8440del (p.Glu2814fs)
|
rs752526400
|
|
|
NM_000051.4(ATM):c.8451T>A (p.Tyr2817Ter)
|
rs2137026687
|
|
|
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)
|
rs2137026687
|
|
|
NM_000051.4(ATM):c.8461del (p.Met2821fs)
|
|
|
|
NM_000051.4(ATM):c.8464_8467del (p.Asp2822fs)
|
rs2137027657
|
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
|
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs)
|
rs786203272
|
|
|
NM_000051.4(ATM):c.8477dup (p.Asn2826fs)
|
|
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
|
NM_000051.4(ATM):c.8481del (p.Gln2828fs)
|
rs2088278756
|
|
|
NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter)
|
rs1555138125
|
|
|
NM_000051.4(ATM):c.8484del (p.Gln2828fs)
|
rs1565563579
|
|
|
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu)
|
rs529296539
|
|
|
NM_000051.4(ATM):c.8495_8505del (p.Arg2832fs)
|
|
|
|
NM_000051.4(ATM):c.8497del (p.Tyr2833fs)
|
|
|
|
NM_000051.4(ATM):c.8499C>A (p.Tyr2833Ter)
|
|
|
|
NM_000051.4(ATM):c.8499C>G (p.Tyr2833Ter)
|
rs2137031313
|
|
|
NM_000051.4(ATM):c.8504dup (p.Cys2835fs)
|
rs2137031805
|
|
|
NM_000051.4(ATM):c.850C>T (p.Gln284Ter)
|
rs757782702
|
|
|
NM_000051.4(ATM):c.8516dup (p.Asp2841fs)
|
rs2137032635
|
|
|
NM_000051.4(ATM):c.8531_8534del (p.Ile2844fs)
|
|
|
|
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)
|
rs1555138291
|
|
|
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs)
|
rs2088299549
|
|
|
NM_000051.4(ATM):c.8556T>A (p.Tyr2852Ter)
|
rs779394254
|
|
|
NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter)
|
rs779394254
|
|
|
NM_000051.4(ATM):c.855_856delinsCT (p.Gln286Ter)
|
rs2079771517
|
|
|
NM_000051.4(ATM):c.855del (p.Gln286fs)
|
rs1555067251
|
|
|
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.856C>T (p.Gln286Ter)
|
rs2135242925
|
|
|
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)
|
rs786203976
|
|
|
NM_000051.4(ATM):c.8584+16A>G
|
rs1322889530
|
|
|
NM_000051.4(ATM):c.8584+1G>A
|
rs876658182
|
|
|
NM_000051.4(ATM):c.8584+2T>A
|
|
|
|
NM_000051.4(ATM):c.8586del (p.Gly2863fs)
|
rs1555139467
|
|
|
NM_000051.4(ATM):c.8592C>A (p.Tyr2864Ter)
|
|
|
|
NM_000051.4(ATM):c.8592C>G (p.Tyr2864Ter)
|
rs56025670
|
|
|
NM_000051.4(ATM):c.8608_8618del (p.Asp2870fs)
|
|
|
|
NM_000051.4(ATM):c.8608_8650dup (p.Glu2884delinsGlyTer)
|
rs1591273850
|
|
|
NM_000051.4(ATM):c.8610_8613dup (p.His2872Ter)
|
|
|
|
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter)
|
rs2088551822
|
|
|
NM_000051.4(ATM):c.8625_8627delinsAAAA (p.Asn2875fs)
|
rs1565567205
|
|
|
NM_000051.4(ATM):c.8628_8629del (p.Leu2877fs)
|
|
|
|
NM_000051.4(ATM):c.8636dup (p.Asn2879fs)
|
rs2137082728
|
|
|
NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter)
|
rs1057520672
|
|
|
NM_000051.4(ATM):c.8649_8655dup (p.Val2886fs)
|
|
|
|
NM_000051.4(ATM):c.864del (p.Ile287_Tyr288insTer)
|
rs1565372075
|
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
|
NM_000051.4(ATM):c.8663del (p.Ile2888fs)
|
rs2137085814
|
|
|
NM_000051.4(ATM):c.8672del
|
rs779170307
|
|
|
NM_000051.4(ATM):c.8676del (p.Ala2893fs)
|
|
|
|
NM_000051.4(ATM):c.8676dup (p.Ala2893fs)
|
rs2089492486
|
|
|
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)
|
rs1565579084
|
|
|
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
|
|
|
|
NM_000051.4(ATM):c.8686C>T (p.Gln2896Ter)
|
rs2137286457
|
|
|
NM_000051.4(ATM):c.8690del (p.Gly2897fs)
|
rs2137286889
|
|
|
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)
|
rs1555142816
|
|
|
NM_000051.4(ATM):c.86_89del (p.Lys29fs)
|
|
|
|
NM_000051.4(ATM):c.8700dup (p.Pro2901fs)
|
|
|
|
NM_000051.4(ATM):c.8711_8716del (p.Glu2904_Thr2905del)
|
|
|
|
NM_000051.4(ATM):c.8718dup (p.Pro2907fs)
|
|
|
|
NM_000051.4(ATM):c.871del (p.His291fs)
|
|
|
|
NM_000051.4(ATM):c.8720del (p.Pro2907fs)
|
|
|
|
NM_000051.4(ATM):c.8724del (p.Phe2908fs)
|
|
|
|
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)
|
rs1555142845
|
|
|
NM_000051.4(ATM):c.8731dup (p.Thr2911fs)
|
rs2137291352
|
|
|
NM_000051.4(ATM):c.8733del (p.Arg2912fs)
|
|
|
|
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)
|
rs756899044
|
|
|
NM_000051.4(ATM):c.8737_8738del (p.Asp2913fs)
|
rs2137291785
|
|
|
NM_000051.4(ATM):c.873del (p.Pro292fs)
|
|
|
|
NM_000051.4(ATM):c.8751del (p.Met2918fs)
|
|
|
|
NM_000051.4(ATM):c.8761dup (p.Thr2921fs)
|
|
|
|
NM_000051.4(ATM):c.8766dup (p.Val2923fs)
|
rs876660813
|
|
|
NM_000051.4(ATM):c.8772del (p.Gly2925fs)
|
|
|
|
NM_000051.4(ATM):c.8779_8780del (p.Phe2927fs)
|
rs2089522875
|
|
|
NM_000051.4(ATM):c.877A>T (p.Lys293Ter)
|
rs1057516442
|
|
|
NM_000051.4(ATM):c.8780del (p.Phe2927fs)
|
rs2089522517
|
|
|
NM_000051.4(ATM):c.8781_8786+2del
|
rs1591307438
|
|
|
NM_000051.4(ATM):c.8785A>T (p.Arg2929Ter)
|
rs1013290424
|
|
|
NM_000051.4(ATM):c.8786+1G>C
|
rs17174393
|
|
|
NM_000051.4(ATM):c.8786+2T>A
|
rs1555142918
|
|
|
NM_000051.4(ATM):c.8786+2T>C
|
rs1555142918
|
|
|
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)
|
rs1555143494
|
|
|
NM_000051.4(ATM):c.8797A>T (p.Lys2933Ter)
|
rs587779875
|
|
|
NM_000051.4(ATM):c.8802del (p.Met2935fs)
|
rs876660567
|
|
|
NM_000051.4(ATM):c.8806del (p.Glu2936fs)
|
|
|
|
NM_000051.4(ATM):c.880G>T (p.Gly294Ter)
|
|
|
|
NM_000051.4(ATM):c.8810_8813dup (p.Met2938fs)
|
rs2137348962
|
|
|
NM_000051.4(ATM):c.8816_8828del (p.Arg2939fs)
|
rs2089694729
|
|
|
NM_000051.4(ATM):c.8818_8819del (p.Asn2940fs)
|
rs2137350203
|
|
|
NM_000051.4(ATM):c.8818_8821dup (p.Ser2941Ter)
|
rs876658959
|
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
|
NM_000051.4(ATM):c.8824C>T (p.Gln2942Ter)
|
rs1591314316
|
|
|
NM_000051.4(ATM):c.8824_8834del (p.Gln2942fs)
|
rs2089695236
|
|
|
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)
|
rs786203030
|
|
|
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)
|
rs786202547
|
|
|
NM_000051.4(ATM):c.8841_8842insTTCATAAGTGAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGTCANNNNNNNNNNNNNAAAAAAAAAA (p.Thr2947_Ile2948insPheIleSerGluGlyGluIleLysTyrPheThrAspLysGlnMetLeuArgAspPheValXaaXaaXaaXaaXaaLysLysLys)
|
|
|
|
NM_000051.4(ATM):c.8851-1G>T
|
rs1057516537
|
|
|
NM_000051.4(ATM):c.8857_8858del (p.Leu2953fs)
|
rs2091198449
|
|
|
NM_000051.4(ATM):c.885del (p.Thr297fs)
|
|
|
|
NM_000051.4(ATM):c.8861_8877del (p.Tyr2954fs)
|
rs2091199523
|
|
|
NM_000051.4(ATM):c.8865del (p.Pro2956fs)
|
rs1591384391
|
|
|
NM_000051.4(ATM):c.8871_8872del (p.Leu2957_Phe2958insTer)
|
rs2091200503
|
|
|
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)
|
rs864622669
|
|
|
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)
|
rs786204726
|
|
|
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)
|
rs1131691149
|
|
|
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)
|
rs1060501650
|
|
|
NM_000051.4(ATM):c.8883dup (p.Met2962fs)
|
rs2137874352
|
|
|
NM_000051.4(ATM):c.8903T>A (p.Leu2968Ter)
|
rs1555151315
|
|
|
NM_000051.4(ATM):c.8904_8905del (p.Tyr2969fs)
|
|
|
|
NM_000051.4(ATM):c.8909del (p.Leu2970fs)
|
|
|
|
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)
|
rs1565607653
|
|
|
NM_000051.4(ATM):c.8914C>T (p.Gln2972Ter)
|
rs2137878257
|
|
|
NM_000051.4(ATM):c.8918_8929delinsTGT (p.Arg2973_Glu2977delinsMetTer)
|
rs1064795675
|
|
|
NM_000051.4(ATM):c.8923del (p.Glu2975fs)
|
rs2137879945
|
|
|
NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer)
|
rs1555151395
|
|
|
NM_000051.4(ATM):c.892C>T (p.Gln298Ter)
|
rs2079775247
|
|
|
NM_000051.4(ATM):c.8933_8934dup (p.Glu2979fs)
|
|
|
|
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs)
|
rs2137881586
|
|
|
NM_000051.4(ATM):c.8942del (p.His2981fs)
|
rs786203489
|
|
|
NM_000051.4(ATM):c.8945dup (p.Thr2983fs)
|
rs2137882907
|
|
|
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs)
|
rs2091211325
|
|
|
NM_000051.4(ATM):c.8947dup (p.Thr2983fs)
|
|
|
|
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)
|
rs147695170
|
|
|
NM_000051.4(ATM):c.8967del (p.Glu2990fs)
|
|
|
|
NM_000051.4(ATM):c.8973C>A (p.Cys2991Ter)
|
rs2137886925
|
|
|
NM_000051.4(ATM):c.8976del (p.Lys2992fs)
|
rs2137887202
|
|
|
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)
|
rs770641163
|
|
|
NM_000051.4(ATM):c.8986dup (p.Ser2996fs)
|
rs2137888813
|
|
|
NM_000051.4(ATM):c.8987+1G>A
|
rs786203631
|
|
|
NM_000051.4(ATM):c.8987+1G>C
|
rs786203631
|
|
|
NM_000051.4(ATM):c.8987+2T>A
|
|
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
|
NM_000051.4(ATM):c.8del (p.Leu3fs)
|
rs879254052
|
|
|
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs)
|
rs876660022
|
|
|
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs)
|
rs2137906600
|
|
|
NM_000051.4(ATM):c.900del (p.Gly301fs)
|
rs1555067335
|
|
|
NM_000051.4(ATM):c.900dup (p.Gly301fs)
|
rs1555067335
|
|
|
NM_000051.4(ATM):c.901+1G>T
|
rs748840480
|
|
|
NM_000051.4(ATM):c.901+2delinsAA
|
rs1555067355
|
|
|
NM_000051.4(ATM):c.9010A>T (p.Lys3004Ter)
|
|
|
|
NM_000051.4(ATM):c.9012del (p.Lys3004_Val3005insTer)
|
|
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
|
NM_000051.4(ATM):c.902-1G>A
|
rs1064793518
|
|
|
NM_000051.4(ATM):c.902-2A>G
|
rs2079877131
|
|
|
NM_000051.4(ATM):c.9021dup (p.Arg3008fs)
|
rs876660235
|
|
|
NM_000051.4(ATM):c.9037_9040del (p.Leu3013fs)
|
rs1565609008
|
|
|
NM_000051.4(ATM):c.9039dup (p.Gln3014fs)
|
rs879253972
|
|
|
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter)
|
rs2137911487
|
|
|
NM_000051.4(ATM):c.9045_9052dup (p.Lys3018delinsArgAsnTer)
|
rs1555151827
|
|
|
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)
|
rs587782847
|
|
|
NM_000051.4(ATM):c.9050_9051insTTCA (p.Lys3018fs)
|
rs1555151854
|
|
|
NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter)
|
rs2091244384
|
|
|
NM_000051.4(ATM):c.9061del (p.Glu3021fs)
|
rs2137914537
|
|
|
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)
|
rs1057516282
|
|
|
NM_000051.4(ATM):c.9070_*53del (p.Thr3024fs)
|
rs2137915972
|
|
|
NM_000051.4(ATM):c.9073del (p.Val3025fs)
|
rs1555151928
|
|
|
NM_000051.4(ATM):c.9073dup (p.Val3025fs)
|
rs2137916728
|
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
|
NM_000051.4(ATM):c.907dup (p.Tyr303fs)
|
|
|
|
NM_000051.4(ATM):c.9082_9083del (p.Val3028fs)
|
|
|
|
NM_000051.4(ATM):c.9086_9096del (p.Gly3029fs)
|
rs2137919004
|
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
|
NM_000051.4(ATM):c.9091del (p.Gln3031fs)
|
rs2091250180
|
|
|
NM_000051.4(ATM):c.9093del (p.Gln3031_Val3032insTer)
|
|
|
|
NM_000051.4(ATM):c.9094del (p.Gln3031_Val3032insTer)
|
|
|
|
NM_000051.4(ATM):c.90del (p.Phe30fs)
|
rs2135011143
|
|
|
NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter)
|
rs1555152009
|
|
|
NM_000051.4(ATM):c.910G>T (p.Glu304Ter)
|
|
|
|
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)
|
rs1591387978
|
|
|
NM_000051.4(ATM):c.9112del (p.Gln3038fs)
|
rs587779878
|
|
|
NM_000051.4(ATM):c.9126del (p.Asn3044fs)
|
|
|
|
NM_000051.4(ATM):c.9127_9128insGCCGACTTTTCCCAGGATGGGA (p.Lys3043fs)
|
rs2137925596
|
|
|
NM_000051.4(ATM):c.9131del (p.Asn3044fs)
|
rs1591388094
|
|
|
NM_000051.4(ATM):c.9131dup (p.Asn3044fs)
|
rs1591388094
|
|
|
NM_000051.4(ATM):c.914C>G (p.Ser305Ter)
|
|
|
|
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
|
|
|
|
NM_000051.4(ATM):c.920_921del (p.Lys307fs)
|
rs2135264840
|
|
|
NM_000051.4(ATM):c.923G>A (p.Trp308Ter)
|
rs1591510553
|
|
|
NM_000051.4(ATM):c.925A>T (p.Arg309Ter)
|
|
|
|
NM_000051.4(ATM):c.929del (p.Ser310fs)
|
rs1591510597
|
|
|
NM_000051.4(ATM):c.933_951del (p.Leu312fs)
|
|
|
|
NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTT (p.Leu312fs)
|
|
|
|
NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTT (p.Ile311_Leu312insPhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaSerAlaArgLeuGlyLeuProLysCysTrpAspTyrArgArgGluProProArgProAlaLeu)
|
rs2079879604
|
|
|
NM_000051.4(ATM):c.944del (p.Leu315fs)
|
rs1565375035
|
|
|
NM_000051.4(ATM):c.945dup (p.Tyr316fs)
|
rs2135265770
|
|
|
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer)
|
rs2135265742
|
|
|
NM_000051.4(ATM):c.947_951del (p.Tyr316fs)
|
rs1565375055
|
|
|
NM_000051.4(ATM):c.964_968del (p.Glu322fs)
|
rs1555068404
|
|
|
NM_000051.4(ATM):c.967del (p.Glu322_Ile323insTer)
|
rs2135266498
|
|
|
NM_000051.4(ATM):c.972_979del (p.Ser324fs)
|
rs2135266573
|
|
|
NM_000051.4(ATM):c.975del (p.His325fs)
|
rs2079883068
|
|
|
NM_000051.4(ATM):c.977_978del (p.Ile326fs)
|
rs876658832
|
|
|
NM_000051.4(ATM):c.978del (p.Ile326fs)
|
rs1565375308
|
|
|
NM_000051.4(ATM):c.980del (p.Gly327fs)
|
rs1331064724
|
|
|
NM_000051.4(ATM):c.992del (p.Lys331fs)
|
rs1060501684
|
|
|
NM_000051.4:c.7387_7388insAluYk11
|
|
|
|
NM_000144.5(FXN):c.157del (p.Arg53fs)
|
rs141935559
|
|
|
NM_000144.5(FXN):c.165+1338AAG[180]
|
rs193922938
|
|
|
NM_000144.5(FXN):c.317T>G (p.Leu106Ter)
|
rs104894105
|
|
|
NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr)
|
rs886037630
|
|
|
NM_000144.5(FXN):c.385-2A>G
|
rs140987490
|
|
|
NM_000144.5(FXN):c.438C>G (p.Asn146Lys)
|
rs146818694
|
|
|
NM_000144.5(FXN):c.460A>T (p.Ile154Phe)
|
rs104894106
|
|
|
NM_000287.4(PEX6):c.371T>C (p.Leu124Pro)
|
rs1770427781
|
|
|
NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38])
|
rs193922926
|
|
|
NM_000370.3(TTPA):c.19del (p.Gln7fs)
|
rs760014795
|
|
|
NM_000370.3(TTPA):c.218_219dup (p.Tyr74fs)
|
rs766675875
|
|
|
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)
|
rs1554524061
|
|
|
NM_000370.3(TTPA):c.303T>G (p.His101Gln)
|
rs121917849
|
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
|
NM_000370.3(TTPA):c.530_531delinsGTAAGT (p.Lys177fs)
|
rs1554605631
|
|
|
NM_000370.3(TTPA):c.553-1G>T
|
rs2129741848
|
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
|
NM_000384.3(APOB):c.12181del (p.Glu4061fs)
|
rs121918385
|
|
|
NM_000384.3(APOB):c.2786del (p.Pro929fs)
|
rs1553385404
|
|
|
NM_000384.3(APOB):c.3614_3625delinsCTTAGG (p.His1205_Asn1209delinsProTer)
|
rs1553384441
|
|
|
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter)
|
rs121918383
|
|
|
NM_000384.3(APOB):c.4089C>G (p.Tyr1363Ter)
|
rs1553384177
|
|
|
NM_000384.3(APOB):c.4352del (p.Gly1451fs)
|
rs397514256
|
|
|
NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter)
|
rs121918389
|
|
|
NM_000384.3(APOB):c.5238T>G (p.Tyr1746Ter)
|
rs1553383898
|
|
|
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs)
|
rs281865425
|
|
|
NM_000384.3(APOB):c.5463del (p.His1822fs)
|
rs397514255
|
|
|
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs)
|
rs121918384
|
|
|
NM_000384.3(APOB):c.819-2A>G
|
rs1572800245
|
|
|
NM_000384.3(APOB):c.905-1_905dup
|
rs606231236
|
|
|
NM_000384.3(APOB):c.9200del (p.Lys3067fs)
|
rs121918387
|
|
|
NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp)
|
rs886037833
|
|
|
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter)
|
rs1057516319
|
|
|
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)
|
rs786204753
|
|
|
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)
|
rs202189057
|
|
|
NM_000391.4(TPP1):c.357dup (p.Leu120fs)
|
rs1554902085
|
|
|
NM_000391.4(TPP1):c.509-1G>A
|
rs56144125
|
|
|
NM_000391.4(TPP1):c.89+1G>A
|
rs1855631590
|
|
|
NM_000391.4(TPP1):c.972_979del (p.Ser324fs)
|
rs778232650
|
|
|
NM_000784.3(CYP27A1):c.[446+1G>T];[808C>T]
|
|
|
|
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)
|
rs1575206357
|
|
|
NM_000784.4(CYP27A1):c.1017+1del
|
rs1559392904
|
|
|
NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=)
|
rs200553205
|
|
|
NM_000784.4(CYP27A1):c.1037G>A (p.Trp346Ter)
|
|
|
|
NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly)
|
rs72551320
|
|
|
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)
|
rs1575206688
|
|
|
NM_000784.4(CYP27A1):c.1068_1072dup (p.Gln358fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1087G>T (p.Glu363Ter)
|
rs72551321
|
|
|
NM_000784.4(CYP27A1):c.1099_1102dup (p.Val368fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1116del (p.Gln373fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1140del (p.Phe380fs)
|
|
|
|
NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)
|
|
|
|
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)
|
rs1178393503
|
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
|
NM_000784.4(CYP27A1):c.1184+1G>C
|
rs587778777
|
|
|
NM_000784.4(CYP27A1):c.1185-1G>T
|
rs587778779
|
|
|
NM_000784.4(CYP27A1):c.1185-2A>G
|
rs1553616457
|
|
|
NM_000784.4(CYP27A1):c.1185-2A>T
|
rs1553616457
|
|
|
NM_000784.4(CYP27A1):c.1191C>A (p.Tyr397Ter)
|
rs2105981050
|
|
|
NM_000784.4(CYP27A1):c.1193del (p.Pro398fs)
|
|
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
|
NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg)
|
rs587778780
|
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
|
NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter)
|
rs587778782
|
|
|
NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp)
|
rs587778783
|
|
|
NM_000784.4(CYP27A1):c.1239dup (p.Asp414Ter)
|
rs2105981099
|
|
|
NM_000784.4(CYP27A1):c.1263+1G>T
|
|
|
|
NM_000784.4(CYP27A1):c.1264-1G>A
|
rs587778785
|
|
|
NM_000784.4(CYP27A1):c.1297dup (p.Arg433fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1330_1333del (p.Phe444fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1333C>T (p.Gln445Ter)
|
rs1325218192
|
|
|
NM_000784.4(CYP27A1):c.1339_1342dup (p.Arg448fs)
|
rs2105981231
|
|
|
NM_000784.4(CYP27A1):c.1374del (p.Arg459fs)
|
rs751969035
|
|
|
NM_000784.4(CYP27A1):c.1375del (p.Arg459fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter)
|
rs771819245
|
|
|
NM_000784.4(CYP27A1):c.1388del (p.Pro463fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser)
|
rs587778787
|
|
|
NM_000784.4(CYP27A1):c.1416_1423del (p.Val473fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1434_1435delinsAA (p.Arg479Ser)
|
rs2105981299
|
|
|
NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser)
|
rs72551322
|
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
|
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1476+2T>A
|
|
|
|
NM_000784.4(CYP27A1):c.1476+2T>C
|
rs1165952837
|
|
|
NM_000784.4(CYP27A1):c.1477-2A>C
|
rs111570247
|
|
|
NM_000784.4(CYP27A1):c.1519del (p.Glu507fs)
|
rs2105981467
|
|
|
NM_000784.4(CYP27A1):c.1563dup (p.Val522fs)
|
|
|
|
NM_000784.4(CYP27A1):c.238C>T (p.Gln80Ter)
|
|
|
|
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs)
|
rs1163340926
|
|
|
NM_000784.4(CYP27A1):c.252dup (p.Gln85fs)
|
|
|
|
NM_000784.4(CYP27A1):c.253C>T (p.Gln85Ter)
|
rs1333458369
|
|
|
NM_000784.4(CYP27A1):c.256-1G>T
|
rs886556800
|
|
|
NM_000784.4(CYP27A1):c.256-2A>G
|
rs1559391390
|
|
|
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)
|
rs1943689766
|
|
|
NM_000784.4(CYP27A1):c.303del (p.Pro102fs)
|
|
|
|
NM_000784.4(CYP27A1):c.305del (p.Pro102fs)
|
rs587778790
|
|
|
NM_000784.4(CYP27A1):c.346C>T (p.Gln116Ter)
|
|
|
|
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)
|
rs1943690848
|
|
|
NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs)
|
rs587778794
|
|
|
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)
|
rs1559391480
|
|
|
NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter)
|
rs1160640803
|
|
|
NM_000784.4(CYP27A1):c.426del (p.Thr143fs)
|
rs2105978931
|
|
|
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg)
|
rs587778795
|
|
|
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu)
|
rs72551313
|
|
|
NM_000784.4(CYP27A1):c.446+1G>T
|
rs587778797
|
|
|
NM_000784.4(CYP27A1):c.45_46del (p.Ala16fs)
|
rs1413976755
|
|
|
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
|
|
|
|
NM_000784.4(CYP27A1):c.465C>A (p.Tyr155Ter)
|
|
|
|
NM_000784.4(CYP27A1):c.46dup (p.Ala16fs)
|
rs1413976755
|
|
|
NM_000784.4(CYP27A1):c.4dup (p.Ala2fs)
|
|
|
|
NM_000784.4(CYP27A1):c.506_507delinsA (p.Ala169fs)
|
rs1559392331
|
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
|
NM_000784.4(CYP27A1):c.536del (p.Asn179fs)
|
|
|
|
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
|
|
|
|
NM_000784.4(CYP27A1):c.555del (p.Phe185fs)
|
|
|
|
NM_000784.4(CYP27A1):c.571C>T (p.Gln191Ter)
|
|
|
|
NM_000784.4(CYP27A1):c.583G>T (p.Glu195Ter)
|
rs587778800
|
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
|
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs)
|
rs587778802
|
|
|
NM_000784.4(CYP27A1):c.639del (p.Leu214fs)
|
|
|
|
NM_000784.4(CYP27A1):c.643G>T (p.Glu215Ter)
|
rs761663976
|
|
|
NM_000784.4(CYP27A1):c.646+1G>A
|
|
|
|
NM_000784.4(CYP27A1):c.647-1G>A
|
|
|
|
NM_000784.4(CYP27A1):c.647-1G>T
|
rs587778804
|
|
|
NM_000784.4(CYP27A1):c.654del (p.Tyr219fs)
|
|
|
|
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)
|
rs755532803
|
|
|
NM_000784.4(CYP27A1):c.667G>T (p.Glu223Ter)
|
|
|
|
NM_000784.4(CYP27A1):c.67dup (p.His23fs)
|
rs1559384522
|
|
|
NM_000784.4(CYP27A1):c.689dup (p.Arg231fs)
|
|
|
|
NM_000784.4(CYP27A1):c.69_82del (p.His23fs)
|
rs1943398587
|
|
|
NM_000784.4(CYP27A1):c.702del (p.Glu235fs)
|
rs2105980153
|
|
|
NM_000784.4(CYP27A1):c.713_716dup (p.Phe240fs)
|
|
|
|
NM_000784.4(CYP27A1):c.73del (p.Ala25fs)
|
rs587778807
|
|
|
NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter)
|
rs587778808
|
|
|
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs)
|
rs1559392634
|
|
|
NM_000784.4(CYP27A1):c.765_766del (p.Phe256fs)
|
rs2105980214
|
|
|
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter)
|
rs587778810
|
|
|
NM_000784.4(CYP27A1):c.79dup (p.Ala27fs)
|
|
|
|
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)
|
rs1943736070
|
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
|
NM_000784.4(CYP27A1):c.813C>G (p.Tyr271Ter)
|
rs532134925
|
|
|
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)
|
rs587778812
|
|
|
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
|
|
|
|
NM_000784.4(CYP27A1):c.844+1G>A
|
rs397515354
|
|
|
NM_000784.4(CYP27A1):c.844+1G>T
|
|
|
|
NM_000784.4(CYP27A1):c.845-1G>C
|
|
|
|
NM_000784.4(CYP27A1):c.845-2A>G
|
rs1553616312
|
|
|
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter)
|
rs1057519469
|
|
|
NM_000784.4(CYP27A1):c.863del (p.Glu288fs)
|
rs587778815
|
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
|
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)
|
rs1943741125
|
|
|
NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp)
|
rs397514619
|
|
|
NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])
|
|
|
|
NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55])
|
rs60216939
|
|
|
NM_001020658.2(PUM1):c.1159del (p.Leu387fs)
|
|
|
|
NM_001020658.2(PUM1):c.213dup (p.Ala72fs)
|
rs2124008285
|
|
|
NM_001020658.2(PUM1):c.3028C>T (p.Arg1010Ter)
|
rs1639458746
|
|
|
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp)
|
rs1557539450
|
|
|
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)
|
rs796053366
|
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
|
NM_001044385.3(TMEM237):c.128dup (p.Asn43fs)
|
|
|
|
NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter)
|
rs902145121
|
|
|
NM_001044385.3(TMEM237):c.275-2A>G
|
rs1574582671
|
|
|
NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter)
|
rs2105900861
|
|
|
NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter)
|
rs565778005
|
|
|
NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs)
|
|
|
|
NM_001044385.3(TMEM237):c.470_473dup (p.Thr159fs)
|
rs1957813141
|
|
|
NM_001044385.3(TMEM237):c.487C>T (p.Gln163Ter)
|
|
|
|
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)
|
rs756970007
|
|
|
NM_001044385.3(TMEM237):c.606_609dup (p.Val204fs)
|
rs2105899220
|
|
|
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)
|
rs1574587553
|
|
|
NM_001044385.3(TMEM237):c.677+1G>T
|
rs793888505
|
|
|
NM_001044385.3(TMEM237):c.694dup (p.Ser232fs)
|
|
|
|
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
|
|
|
|
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)
|
rs387907131
|
|
|
NM_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
|
NM_001044385.3(TMEM237):c.869+1del
|
rs1311551510
|
|
|
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter)
|
rs768528861
|
|
|
NM_001077418.3(TMEM231):c.-37G>A
|
|
|
|
NM_001077418.3(TMEM231):c.139+1del
|
rs2151711054
|
|
|
NM_001077418.3(TMEM231):c.139+39_139+40del
|
|
|
|
NM_001077418.3(TMEM231):c.140-3C>G
|
rs776673877
|
|
|
NM_001077418.3(TMEM231):c.140-8dup
|
|
|
|
NM_001077418.3(TMEM231):c.140-9_140-8del
|
|
|
|
NM_001077418.3(TMEM231):c.164_176dup (p.Thr60fs)
|
|
|
|
NM_001077418.3(TMEM231):c.208del (p.Val70fs)
|
|
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
|
NM_001077418.3(TMEM231):c.33C>A (p.Val11=)
|
|
|
|
NM_001077418.3(TMEM231):c.354dup (p.His119fs)
|
rs2151703115
|
|
|
NM_001077418.3(TMEM231):c.379C>T (p.Gln127Ter)
|
|
|
|
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)
|
|
|
|
NM_001077418.3(TMEM231):c.438+1G>C
|
rs1415483600
|
|
|
NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr)
|
rs903354438
|
|
|
NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter)
|
rs2151702587
|
|
|
NM_001077418.3(TMEM231):c.538C>T (p.Gln180Ter)
|
|
|
|
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)
|
|
|
|
NM_001077418.3(TMEM231):c.583-1_583delinsAG
|
rs2151700036
|
|
|
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC
|
|
|
|
NM_001077418.3(TMEM231):c.665-11T>C
|
rs886039807
|
|
|
NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter)
|
rs369384363
|
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
|
NM_001082538.3(TCTN1):c.1114dup (p.Gln372fs)
|
|
|
|
NM_001082538.3(TCTN1):c.291C>A (p.Cys97Ter)
|
|
|
|
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg)
|
rs1057518011
|
|
|
NM_001114748.2(TMEM240):c.489C>G (p.Tyr163Ter)
|
rs606231452
|
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
|
NM_001127221.2(CACNA1A):c.5559_5560del (p.Tyr1853_Ser1854delinsTer)
|
rs1568440440
|
|
|
NM_001127222.2(CACNA1A):c.1634dup (p.Tyr545Ter)
|
rs1568523843
|
|
|
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)
|
rs1427473572
|
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
|
NM_001127222.2(CACNA1A):c.1805T>G (p.Leu602Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)
|
rs2057947681
|
|
|
NM_001127222.2(CACNA1A):c.1972dup (p.Met658fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter)
|
rs1064795856
|
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)
|
rs2144979269
|
|
|
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)
|
rs2144958410
|
|
|
NM_001127222.2(CACNA1A):c.3414del (p.Thr1139fs)
|
rs2144887631
|
|
|
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)
|
rs121908230
|
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
|
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)
|
rs1064794808
|
|
|
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)
|
rs2056767062
|
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
|
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del)
|
rs886041279
|
|
|
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)
|
rs886037946
|
|
|
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)
|
rs121909324
|
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
|
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter)
|
rs1555738369
|
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
|
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)
|
rs1057519429
|
|
|
NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs)
|
rs2144649756
|
|
|
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)
|
rs121909326
|
|
|
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)
|
rs2144629622
|
|
|
NM_001127222.2(CACNA1A):c.6937CAG[(21_30)]
|
|
|
|
NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter)
|
rs2059069286
|
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
|
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs)
|
rs2145245595
|
|
|
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)
|
rs121908215
|
|
|
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)
|
rs1017750255
|
|
|
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)
|
rs1567871600
|
|
|
NM_001130698.2(TRPC3):c.1419del (p.Val474fs)
|
rs2149125943
|
|
|
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)
|
rs199473690
|
|
|
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val)
|
rs397509392
|
|
|
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala)
|
rs397509393
|
|
|
NM_001130823.3(DNMT1):c.1816G>T (p.Val606Phe)
|
rs397509391
|
|
|
NM_001134831.2(AHI1):c.101del (p.Lys34fs)
|
|
|
|
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)
|
rs2128081591
|
|
|
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)
|
rs121434348
|
|
|
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu)
|
rs397514726
|
|
|
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly)
|
rs863225133
|
|
|
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter)
|
rs121434349
|
|
|
NM_001134831.2(AHI1):c.1326del (p.Val443fs)
|
rs1788834778
|
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
|
NM_001134831.2(AHI1):c.1330_1331insGGATA (p.Ile444fs)
|
rs1788833484
|
|
|
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer)
|
rs2128071123
|
|
|
NM_001134831.2(AHI1):c.1420del (p.Ile474fs)
|
rs1369440486
|
|
|
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)
|
rs371637724
|
|
|
NM_001134831.2(AHI1):c.1550G>A (p.Trp517Ter)
|
|
|
|
NM_001134831.2(AHI1):c.1614del (p.Val539fs)
|
rs863225141
|
|
|
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC
|
rs863225148
|
|
|
NM_001134831.2(AHI1):c.1760G>A (p.Trp587Ter)
|
|
|
|
NM_001134831.2(AHI1):c.1761del (p.Lys586_Trp587insTer)
|
rs1787347907
|
|
|
NM_001134831.2(AHI1):c.1779+1G>T
|
|
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
|
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
|
rs797045223
|
|
|
NM_001134831.2(AHI1):c.1889del (p.Ser630fs)
|
rs1786487832
|
|
|
NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs)
|
rs863225132
|
|
|
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter)
|
rs764412921
|
|
|
NM_001134831.2(AHI1):c.1983del (p.Trp662fs)
|
rs1459452503
|
|
|
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)
|
rs772989270
|
|
|
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn)
|
rs863225145
|
|
|
NM_001134831.2(AHI1):c.2036+1G>T
|
rs776093293
|
|
|
NM_001134831.2(AHI1):c.2037-1G>C
|
rs1784918128
|
|
|
NM_001134831.2(AHI1):c.2057_2060del (p.Asn686fs)
|
|
|
|
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs)
|
rs863225136
|
|
|
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)
|
rs863225134
|
|
|
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)
|
rs863225144
|
|
|
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs)
|
rs863225140
|
|
|
NM_001134831.2(AHI1):c.2266+1G>A
|
|
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
|
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
|
|
|
|
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)
|
rs863225139
|
|
|
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)
|
rs863225146
|
|
|
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)
|
rs863225146
|
|
|
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)
|
rs387906270
|
|
|
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
|
|
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs)
|
rs587783014
|
|
|
NM_001134831.2(AHI1):c.2623+1G>T
|
rs751823180
|
|
|
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)
|
rs1355690902
|
|
|
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs)
|
rs1463748841
|
|
|
NM_001134831.2(AHI1):c.630_631del (p.Lys211fs)
|
|
|
|
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)
|
rs753874898
|
|
|
NM_001146262.4(SYT14):c.1316G>A (p.Gly439Asp)
|
rs387907033
|
|
|
NM_001163809.2(WDR81):c.2698G>T (p.Glu900Ter)
|
|
|
|
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)
|
rs770279237
|
|
|
NM_001163809.2(WDR81):c.3771T>G (p.Tyr1257Ter)
|
rs1484029774
|
|
|
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter)
|
rs2151169266
|
|
|
NM_001172509.2(SATB2):c.1924C>T (p.Gln642Ter)
|
rs2105707111
|
|
|
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)
|
rs201108965
|
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
|
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT
|
|
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
|
NM_001174150.2(ARL13B):c.223G>A (p.Gly75Arg)
|
|
|
|
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)
|
rs72554634
|
|
|
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)
|
rs80356713
|
|
|
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)
|
rs80356714
|
|
|
NM_001271696.3(ABCB7):c.2021A>G (p.Asp674Gly)
|
|
|
|
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp)
|
rs515726147
|
|
|
NM_001278064.1(GRM1):c.[2652_2654delGAA;2660+2T>C]
|
|
|
|
NM_001278064.2(GRM1):c.1360C>T (p.Leu454Phe)
|
rs988699004
|
|
|
NM_001278064.2(GRM1):c.1715del (p.Asn572fs)
|
|
|
|
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys)
|
rs1554308513
|
|
|
NM_001278064.2(GRM1):c.2471C>G (p.Thr824Arg)
|
|
|
|
NM_001278064.2(GRM1):c.26dup (p.Ala11fs)
|
rs758809498
|
|
|
NM_001278064.2(GRM1):c.3165dup (p.Gly1056fs)
|
rs1554317158
|
|
|
NM_001278064.2(GRM1):c.785A>G (p.Tyr262Cys)
|
rs1554274719
|
|
|
NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.1075_1076del (p.Lys359fs)
|
rs2140706563
|
|
|
NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.1093del (p.Glu365fs)
|
rs1232900431
|
|
|
NM_001329943.3(KIAA0586):c.1193del (p.Ser398fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter)
|
rs1301378192
|
|
|
NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.1466_1476del (p.Lys489fs)
|
rs2140844892
|
|
|
NM_001329943.3(KIAA0586):c.1645del (p.Ala549fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.1667dup (p.Arg557fs)
|
rs2140873534
|
|
|
NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter)
|
rs2040187420
|
|
|
NM_001329943.3(KIAA0586):c.1743dup (p.Ile582fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.1759C>T (p.Gln587Ter)
|
rs2040191088
|
|
|
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter)
|
rs1566827747
|
|
|
NM_001329943.3(KIAA0586):c.1872del (p.Glu625fs)
|
rs2140875258
|
|
|
NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.1935del (p.Val646fs)
|
rs2140886312
|
|
|
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)
|
rs797045119
|
|
|
NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs)
|
rs2140887842
|
|
|
NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter)
|
rs2140372917
|
|
|
NM_001329943.3(KIAA0586):c.2800del (p.Thr934fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.2810del (p.Asn937fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.3353del (p.Pro1118fs)
|
rs2141193077
|
|
|
NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.3638del (p.Pro1213fs)
|
rs2141202895
|
|
|
NM_001329943.3(KIAA0586):c.3718_3719del (p.Leu1240fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs)
|
rs745949846
|
|
|
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs)
|
rs745949846
|
|
|
NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs)
|
rs886039809
|
|
|
NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs)
|
rs762932867
|
|
|
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs)
|
rs867342730
|
|
|
NM_001329943.3(KIAA0586):c.411-1371G>A
|
rs2038350104
|
|
|
NM_001329943.3(KIAA0586):c.411-1455_411-1454insGG
|
|
|
|
NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.4225del (p.Glu1409fs)
|
rs2141430525
|
|
|
NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.4350dup (p.Lys1451Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter)
|
rs2140098022
|
|
|
NM_001329943.3(KIAA0586):c.4495+3755del
|
rs2140128017
|
|
|
NM_001329943.3(KIAA0586):c.4495+3767A>T
|
rs2140128191
|
|
|
NM_001329943.3(KIAA0586):c.465del (p.Gly156fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.622dup (p.Thr208fs)
|
rs2140565674
|
|
|
NM_001329943.3(KIAA0586):c.653_663del (p.Asp218fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.67G>T (p.Glu23Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter)
|
rs376338487
|
|
|
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs)
|
rs1203751352
|
|
|
NM_001329943.3(KIAA0586):c.938del (p.Tyr313fs)
|
rs2140664007
|
|
|
NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.961+1G>A
|
|
|
|
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
|
|
|
|
NM_001349232.2(ATG7):c.1532G>A (p.Gly511Asp)
|
rs2152811529
|
|
|
NM_001349232.2(ATG7):c.1535T>C (p.Leu512Pro)
|
rs2152811539
|
|
|
NM_001349232.2(ATG7):c.1870C>T (p.His624Tyr)
|
rs777067201
|
|
|
NM_001349232.2(ATG7):c.339G>A (p.Trp113Ter)
|
|
|
|
NM_001349232.2(ATG7):c.782A>G (p.Gln261Arg)
|
rs2152756968
|
|
|
NM_001372574.1(ATXN2):c.18GCA[43] (p.Gln28_Pro29insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
|
NM_001377405.1(ATXN7):c.89AGC[233] (p.Gln39_Pro40insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
rs193922929
|
|
|
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys)
|
rs2124927471
|
|
|
NM_001378452.1(ITPR1):c.1700A>G (p.Tyr567Cys)
|
|
|
|
NM_001378452.1(ITPR1):c.1702A>G (p.Arg568Gly)
|
rs1322796318
|
|
|
NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp)
|
rs397514536
|
|
|
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)
|
rs121912425
|
|
|
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)
|
rs397514535
|
|
|
NM_001378452.1(ITPR1):c.5504T>C (p.Leu1835Pro)
|
rs1114167316
|
|
|
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys)
|
rs2125159664
|
|
|
NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro)
|
rs1553756062
|
|
|
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys)
|
rs1553666546
|
|
|
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)
|
rs1559603328
|
|
|
NM_001378452.1(ITPR1):c.7636G>A (p.Val2546Met)
|
rs2106492941
|
|
|
NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu)
|
rs869312685
|
|
|
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr)
|
rs1553758021
|
|
|
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg)
|
rs797044955
|
|
|
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)
|
rs797044955
|
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
|
NM_001378615.1(CC2D2A):c.1149+1G>A
|
rs1553827236
|
|
|
NM_001378615.1(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg)
|
rs762998472
|
|
|
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs)
|
rs386833745
|
|
|
NM_001378615.1(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn)
|
rs863225177
|
|
|
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter)
|
rs2109029867
|
|
|
NM_001378615.1(CC2D2A):c.1676T>C (p.Leu559Pro)
|
rs754221308
|
|
|
NM_001378615.1(CC2D2A):c.1751G>A (p.Trp584Ter)
|
rs980305935
|
|
|
NM_001378615.1(CC2D2A):c.2338+1G>C
|
rs2109050324
|
|
|
NM_001378615.1(CC2D2A):c.2339-2A>C
|
rs1719092280
|
|
|
NM_001378615.1(CC2D2A):c.2624C>A (p.Ser875Ter)
|
rs200904521
|
|
|
NM_001378615.1(CC2D2A):c.2671G>A (p.Glu891Lys)
|
rs863225178
|
|
|
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)
|
rs764719093
|
|
|
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.2923-1G>A
|
|
|
|
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs)
|
rs386833749
|
|
|
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)
|
rs386833750
|
|
|
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His)
|
rs863225169
|
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
|
NM_001378615.1(CC2D2A):c.3613dup (p.Ile1205fs)
|
|
|
|
NM_001378615.1(CC2D2A):c.3744_3747dup (p.Pro1250fs)
|
rs863225171
|
|
|
NM_001378615.1(CC2D2A):c.3772-1G>T
|
rs863225172
|
|
|
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter)
|
rs386833757
|
|
|
NM_001378615.1(CC2D2A):c.3892_3893del (p.Val1298fs)
|
rs763735590
|
|
|
NM_001378615.1(CC2D2A):c.3975+4_3975+7del
|
rs386833759
|
|
|
NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs)
|
rs1577396376
|
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
|
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)
|
rs863225176
|
|
|
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs)
|
rs772110399
|
|
|
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala)
|
rs863225168
|
|
|
NM_001378615.1(CC2D2A):c.4437+1G>A
|
rs786205568
|
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
|
NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter)
|
rs1553845300
|
|
|
NM_001378615.1(CC2D2A):c.4491A>C (p.Gln1497His)
|
rs863225179
|
|
|
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)
|
rs1721483506
|
|
|
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs)
|
rs863225175
|
|
|
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs)
|
rs746415983
|
|
|
NM_001378615.1(CC2D2A):c.715del (p.Met239fs)
|
|
|
|
NM_001378969.1(KCND3):c.1013T>A (p.Val338Glu)
|
rs1571939827
|
|
|
NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val)
|
rs797045634
|
|
|
NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro)
|
rs397515476
|
|
|
NM_001378969.1(KCND3):c.1123C>T (p.Pro375Ser)
|
rs1571636508
|
|
|
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)
|
rs1571636501
|
|
|
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser)
|
rs1664632655
|
|
|
NM_001378969.1(KCND3):c.1153T>C (p.Ser385Pro)
|
rs1057519453
|
|
|
NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn)
|
rs397515478
|
|
|
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)
|
rs786205867
|
|
|
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del)
|
rs397515475
|
|
|
NM_001378969.1(KCND3):c.877_885dup (p.Arg296_Ile297insValPheArg)
|
|
|
|
NM_001378969.1(KCND3):c.950G>A (p.Cys317Tyr)
|
rs1571939905
|
|
|
NM_001382391.1(CSPP1):c.-56del
|
|
|
|
NM_001382391.1(CSPP1):c.-69C>T
|
rs1294428066
|
|
|
NM_001382391.1(CSPP1):c.1055_1059del (p.Asn352fs)
|
|
|
|
NM_001382391.1(CSPP1):c.1083del (p.Met362fs)
|
|
|
|
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)
|
rs374703898
|
|
|
NM_001382391.1(CSPP1):c.1108G>T (p.Glu370Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)
|
rs886044058
|
|
|
NM_001382391.1(CSPP1):c.1187+1G>A
|
|
|
|
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln)
|
rs760205035
|
|
|
NM_001382391.1(CSPP1):c.140dup (p.Ile48fs)
|
|
|
|
NM_001382391.1(CSPP1):c.1505del (p.Pro502fs)
|
rs1818317027
|
|
|
NM_001382391.1(CSPP1):c.1544_1547del (p.Asn515fs)
|
rs752908017
|
|
|
NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter)
|
rs756752153
|
|
|
NM_001382391.1(CSPP1):c.1560T>A (p.Tyr520Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.1624del (p.Ser542fs)
|
|
|
|
NM_001382391.1(CSPP1):c.1698-1G>C
|
rs2129554176
|
|
|
NM_001382391.1(CSPP1):c.1787_1790del (p.Lys596fs)
|
rs1409618249
|
|
|
NM_001382391.1(CSPP1):c.1817del (p.Leu606fs)
|
rs1021950925
|
|
|
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter)
|
rs1821344202
|
|
|
NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs)
|
rs1189289587
|
|
|
NM_001382391.1(CSPP1):c.1857_1860del (p.Lys619fs)
|
|
|
|
NM_001382391.1(CSPP1):c.1929del (p.Gly644fs)
|
|
|
|
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter)
|
rs1201375699
|
|
|
NM_001382391.1(CSPP1):c.2104G>T (p.Glu702Ter)
|
rs1825358020
|
|
|
NM_001382391.1(CSPP1):c.2205del (p.Lys735fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)
|
rs1402669959
|
|
|
NM_001382391.1(CSPP1):c.2257_2260del (p.Gln753fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
|
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)
|
rs587777145
|
|
|
NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.2282_2283del (p.Arg761fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2285_2286del (p.Leu762fs)
|
rs1827098991
|
|
|
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs)
|
rs587777140
|
|
|
NM_001382391.1(CSPP1):c.229G>T (p.Gly77Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.2372_2376del (p.Lys791fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2373_2374del (p.Lys794fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2379_2380del (p.Lys794fs)
|
rs1375090095
|
|
|
NM_001382391.1(CSPP1):c.239_240del (p.Asp79_Tyr80insTer)
|
|
|
|
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs)
|
rs761382780
|
|
|
NM_001382391.1(CSPP1):c.2463_2469del (p.Glu822fs)
|
rs863225191
|
|
|
NM_001382391.1(CSPP1):c.2463_2469dup (p.Glu824fs)
|
rs863225191
|
|
|
NM_001382391.1(CSPP1):c.2477_2478insT (p.Lys826fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs)
|
rs755739341
|
|
|
NM_001382391.1(CSPP1):c.2527dup (p.Glu843fs)
|
rs1554604482
|
|
|
NM_001382391.1(CSPP1):c.2538+1G>T
|
rs2129560295
|
|
|
NM_001382391.1(CSPP1):c.2540del (p.His847fs)
|
rs1563720581
|
|
|
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs)
|
rs587777143
|
|
|
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)
|
rs1554562278
|
|
|
NM_001382391.1(CSPP1):c.2584del (p.Ile862fs)
|
|
|
|
NM_001382391.1(CSPP1):c.259_263del (p.Leu87fs)
|
|
|
|
NM_001382391.1(CSPP1):c.263_267del (p.Lys88fs)
|
rs2129543529
|
|
|
NM_001382391.1(CSPP1):c.264del (p.Glu89fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs)
|
rs863225190
|
|
|
NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter)
|
rs537456518
|
|
|
NM_001382391.1(CSPP1):c.2829-9_2968+11del
|
rs1554614893
|
|
|
NM_001382391.1(CSPP1):c.294T>A (p.Tyr98Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.2968+1G>A
|
rs587777142
|
|
|
NM_001382391.1(CSPP1):c.3067C>T (p.Gln1023Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.30del (p.Glu11fs)
|
|
|
|
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter)
|
rs200881715
|
|
|
NM_001382391.1(CSPP1):c.3220+1G>A
|
rs773954226
|
|
|
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter)
|
rs587777141
|
|
|
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs)
|
|
|
|
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer)
|
rs1206214608
|
|
|
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs)
|
rs2129575958
|
|
|
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer)
|
rs1175214174
|
|
|
NM_001382391.1(CSPP1):c.419_422del (p.Asn140fs)
|
rs1371078806
|
|
|
NM_001382391.1(CSPP1):c.430del (p.Arg144fs)
|
rs863225192
|
|
|
NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)
|
rs766020802
|
|
|
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter)
|
rs587777146
|
|
|
NM_001382391.1(CSPP1):c.818dup (p.Tyr273Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.923+1G>C
|
rs863225194
|
|
|
NM_001384732.1(CPLANE1):c.1809_1811delinsCCAT (p.Tyr607fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
|
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)
|
rs1561601398
|
|
|
NM_001384732.1(CPLANE1):c.3176del (p.Pro1059fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.7915C>T (p.Gln2639Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs)
|
rs775263897
|
|
|
NM_001384732.1(CPLANE1):c.9097C>T (p.Gln3033Ter)
|
|
|
|
NM_001386140.1(MTTP):c.1237-1G>A
|
rs1560621444
|
|
|
NM_001386140.1(MTTP):c.1237_1344del (p.Ser413_Lys448del)
|
|
|
|
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile)
|
rs199422222
|
|
|
NM_001386140.1(MTTP):c.215del (p.Pro72fs)
|
rs1560614154
|
|
|
NM_001386140.1(MTTP):c.2212del (p.Ser738fs)
|
rs755681036
|
|
|
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr)
|
rs199422221
|
|
|
NM_001386140.1(MTTP):c.2342+1G>A
|
|
|
|
NM_001386140.1(MTTP):c.2578G>T (p.Glu860Ter)
|
rs1726269709
|
|
|
NM_001386140.1(MTTP):c.419dup (p.Asn140fs)
|
rs762901763
|
|
|
NM_001386140.1(MTTP):c.501+1G>A
|
rs2110217173
|
|
|
NM_001386140.1(MTTP):c.640del (p.Ala214fs)
|
rs2110218614
|
|
|
NM_001386140.1(MTTP):c.708_709del (p.His236fs)
|
rs1553926818
|
|
|
NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)
|
|
|
|
NM_001395333.1(MTCL1):c.1129C>T (p.Gln377Ter)
|
|
|
|
NM_001458.5(FLNC):c.5385dup (p.Gly1796fs)
|
rs2128938102
|
|
|
NM_001510.3(GRID2):c.530-12057_735+24661del36924
|
|
|
|
NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala)
|
|
|
|
NM_001510.4(GRID2):c.568C>T (p.Gln190Ter)
|
rs1732687174
|
|
|
NM_001961.4(EEF2):c.1787C>A (p.Pro596His)
|
rs587777052
|
|
|
NM_002024.6(FMR1):c.-128GGC[55_200]
|
|
|
|
NM_002024.6:c.-128GGM[55_?]
|
|
|
|
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)
|
rs754304255
|
|
|
NM_002109.6(HARS1):c.910_912dup (p.Leu305dup)
|
rs1581504953
|
|
|
NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro)
|
rs137853066
|
|
|
NM_002522.4(NPTX1):c.1109A>G (p.Gln370Arg)
|
|
|
|
NM_002522.4(NPTX1):c.428G>T (p.Arg143Leu)
|
|
|
|
NM_002522.4(NPTX1):c.980A>G (p.Glu327Gly)
|
|
|
|
NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser)
|
rs386134171
|
|
|
NM_002739.5(PRKCG):c.107A>G (p.His36Arg)
|
rs2122973105
|
|
|
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly)
|
rs121918517
|
|
|
NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro)
|
rs386134158
|
|
|
NM_002739.5(PRKCG):c.1308C>G (p.Tyr436Ter)
|
rs955612922
|
|
|
NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr)
|
rs387906679
|
|
|
NM_002739.5(PRKCG):c.188G>T (p.Gly63Val)
|
rs386134159
|
|
|
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu)
|
rs121918516
|
|
|
NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa)
|
rs1555808841
|
|
|
NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser)
|
rs386134160
|
|
|
NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del)
|
rs386134161
|
|
|
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)
|
rs121918511
|
|
|
NM_002739.5(PRKCG):c.303C>G (p.His101Gln)
|
rs121918518
|
|
|
NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr)
|
rs386134162
|
|
|
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)
|
rs121918514
|
|
|
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro)
|
rs121918512
|
|
|
NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe)
|
rs386134163
|
|
|
NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg)
|
rs386134164
|
|
|
NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu)
|
rs386134165
|
|
|
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg)
|
rs121918515
|
|
|
NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp)
|
rs121918513
|
|
|
NM_002739.5(PRKCG):c.413T>A (p.Val138Glu)
|
rs386134168
|
|
|
NM_002739.5(PRKCG):c.417C>A (p.His139Gln)
|
rs386134169
|
|
|
NM_002739.5(PRKCG):c.449_450delinsTT (p.Cys150Phe)
|
rs386134170
|
|
|
NM_002739.5(PRKCG):c.530_919del
|
|
|
|
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
|
|
|
|
NM_002913.5(RFC1):c.1162C>T (p.Arg388Ter)
|
|
|
|
NM_002913.5(RFC1):c.2535+2T>C
|
|
|
|
NM_002913.5(RFC1):c.2690+1G>A
|
|
|
|
NM_002913.5(RFC1):c.575del (p.Asn192fs)
|
|
|
|
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])
|
rs1885090126
|
|
|
NM_003047.5(SLC9A1):c.862del (p.Ile288fs)
|
rs2083214834
|
|
|
NM_003047.5(SLC9A1):c.913G>A (p.Gly305Arg)
|
rs786204831
|
|
|
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
|
rs782316919
|
|
|
NM_003194.5(TBP):c.215_216insGCAACAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCA (p.Gln95_Ala96insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
|
NM_003194.5(TBP):c.225GCA[25] (p.Gln95_Ala96insGlnGlnGlnGlnGlnGln)
|
|
|
|
NM_003383.5(VLDLR):c.1249_1255del (p.Tyr417fs)
|
rs398122380
|
|
|
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter)
|
rs80338905
|
|
|
NM_003383.5(VLDLR):c.149G>A (p.Trp50Ter)
|
|
|
|
NM_003383.5(VLDLR):c.1724G>A (p.Trp575Ter)
|
|
|
|
NM_003383.5(VLDLR):c.1961A>G (p.Glu654Gly)
|
|
|
|
NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe)
|
rs397514750
|
|
|
NM_003383.5(VLDLR):c.2339del (p.Ile780fs)
|
rs80338906
|
|
|
NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter)
|
rs2130810631
|
|
|
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter)
|
rs80338907
|
|
|
NM_003383.5(VLDLR):c.820+1G>A
|
|
|
|
NM_003383.5(VLDLR):c.821-1G>A
|
|
|
|
NM_003383.5(VLDLR):c.901C>T (p.Arg301Ter)
|
|
|
|
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)
|
rs121908681
|
|
|
NM_003611.3(OFD1):c.710del (p.Lys237fs)
|
rs312262845
|
|
|
NM_004056.6(CA8):c.232C>T (p.Arg78Ter)
|
|
|
|
NM_004056.6(CA8):c.251A>G (p.Asn84Ser)
|
|
|
|
NM_004056.6(CA8):c.298T>C (p.Ser100Pro)
|
rs267606695
|
|
|
NM_004056.6(CA8):c.484G>A (p.Gly162Arg)
|
|
|
|
NM_004115.4(FGF14):c.211dup (p.Ile71fs)
|
|
|
|
NM_004115.4(FGF14):c.434T>C (p.Phe145Ser)
|
rs104894393
|
|
|
NM_004115.4(FGF14):c.439G>T (p.Glu147Ter)
|
rs865878627
|
|
|
NM_004115.4(FGF14):c.487del (p.Arg163fs)
|
rs587776685
|
|
|
NM_004115.4(FGF14):c.512G>A (p.Trp171Ter)
|
|
|
|
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter)
|
rs1555370787
|
|
|
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe)
|
rs121913376
|
|
|
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)
|
rs180177036
|
|
|
NM_004715.5(CTDP1):c.863+389C>T
|
rs113994102
|
|
|
NM_004849.4(ATG5):c.366A>T (p.Glu122Asp)
|
rs1131692265
|
|
|
NM_004977.3(KCNC3):c.11_12del (p.Ser4fs)
|
rs1555781806
|
|
|
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)
|
rs104894699
|
|
|
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)
|
rs797044872
|
|
|
NM_004977.3(KCNC3):c.1283C>T (p.Thr428Ile)
|
rs879253883
|
|
|
NM_004977.3(KCNC3):c.1344C>A (p.Phe448Leu)
|
rs104894700
|
|
|
NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
|
NM_004993.6(ATXN3):c.892CAG[8_36]
|
rs193922928
|
|
|
NM_005861.4(STUB1):c.168C>G (p.Asn56Lys)
|
|
|
|
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)
|
rs690016544
|
|
|
NM_005861.4(STUB1):c.199G>A (p.Ala67Thr)
|
rs2151504209
|
|
|
NM_005861.4(STUB1):c.235G>A (p.Ala79Thr)
|
rs587777346
|
|
|
NM_005861.4(STUB1):c.236C>A (p.Ala79Asp)
|
rs587777347
|
|
|
NM_005861.4(STUB1):c.367C>G (p.Leu123Val)
|
rs587777344
|
|
|
NM_005861.4(STUB1):c.389A>T (p.Asn130Ile)
|
rs587777341
|
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
|
NM_005861.4(STUB1):c.441G>T (p.Trp147Cys)
|
rs587777342
|
|
|
NM_005861.4(STUB1):c.493C>T (p.Leu165Phe)
|
rs587777340
|
|
|
NM_005861.4(STUB1):c.646dup (p.Ser216fs)
|
rs1555475283
|
|
|
NM_005861.4(STUB1):c.682C>T (p.Pro228Ser)
|
rs2039691550
|
|
|
NM_005861.4(STUB1):c.689_692del (p.Tyr230fs)
|
rs754446573
|
|
|
NM_005861.4(STUB1):c.737C>T (p.Thr246Met)
|
rs587777343
|
|
|
NM_005861.4(STUB1):c.791_792del (p.Val264fs)
|
rs1732133553
|
|
|
NM_005861.4(STUB1):c.818_819dup (p.Pro274fs)
|
rs2039704195
|
|
|
NM_005861.4(STUB1):c.823dup (p.Leu275fs)
|
rs2039704361
|
|
|
NM_005861.4(STUB1):c.885dup (p.Glu296Ter)
|
rs1567283195
|
|
|
NM_005861.4(STUB1):c.97G>A (p.Gly33Ser)
|
rs2039634238
|
|
|
NM_006297.3(XRCC1):c.1393C>T (p.Gln465Ter)
|
rs1555768154
|
|
|
NM_006392.4(NOP56):c.3+71GGCCTG[(650_?)]
|
|
|
|
NM_006392.4(NOP56):c.3+71_3GGCCTG[16_?]
|
rs1555779353
|
|
|
NM_006516.4(SLC2A1):c.470dup (p.Thr158fs)
|
rs1057518821
|
|
|
NM_006612.6(KIF1C):c.1051_1055del (p.Asn351fs)
|
rs1597846084
|
|
|
NM_006793.5(PRDX3):c.169+1G>A
|
|
|
|
NM_006793.5(PRDX3):c.340dup (p.Ala114fs)
|
rs2133659317
|
|
|
NM_006793.5(PRDX3):c.37-2A>G
|
rs1368897658
|
|
|
NM_006793.5(PRDX3):c.489C>G (p.Asp163Glu)
|
|
|
|
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter)
|
rs140609531
|
|
|
NM_006793.5(PRDX3):c.539G>A (p.Gly180Asp)
|
|
|
|
NM_006793.5(PRDX3):c.658C>T (p.Gln220Ter)
|
|
|
|
NM_006796.3(AFG3L2):c.1164+1G>A
|
rs1598832526
|
|
|
NM_006796.3(AFG3L2):c.1168C>T (p.Arg390Ter)
|
|
|
|
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr)
|
rs151344512
|
|
|
NM_006796.3(AFG3L2):c.1651C>T (p.Arg551Ter)
|
|
|
|
NM_006796.3(AFG3L2):c.1861C>G (p.Leu621Val)
|
rs756912142
|
|
|
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)
|
rs151344513
|
|
|
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
|
rs151344514
|
|
|
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg)
|
rs151344515
|
|
|
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)
|
rs151344517
|
|
|
NM_006796.3(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu)
|
rs151344519
|
|
|
NM_006796.3(AFG3L2):c.2062C>T (p.Pro688Ser)
|
rs797045221
|
|
|
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys)
|
rs151344520
|
|
|
NM_006796.3(AFG3L2):c.2081C>A (p.Ala694Glu)
|
rs151344521
|
|
|
NM_006796.3(AFG3L2):c.[1385C>T;1858C>A]
|
|
|
|
NM_006885.4:c.10519GGC[42-74]
|
|
|
|
NM_006946.4(SPTBN2):c.1240C>T (p.Arg414Cys)
|
rs1318256630
|
|
|
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)
|
rs1554986337
|
|
|
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)
|
rs397514749
|
|
|
NM_006946.4(SPTBN2):c.157+1G>A
|
rs2135558909
|
|
|
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)
|
rs1554985851
|
|
|
NM_006946.4(SPTBN2):c.1881C>A (p.Cys627Ter)
|
rs146859515
|
|
|
NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp)
|
rs1941485201
|
|
|
NM_006946.4(SPTBN2):c.2864_2868del (p.Thr955fs)
|
rs373728971
|
|
|
NM_006946.4(SPTBN2):c.3436C>T (p.Arg1146Ter)
|
|
|
|
NM_006946.4(SPTBN2):c.5581del (p.Asp1861fs)
|
|
|
|
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs)
|
rs1590911156
|
|
|
NM_006946.4(SPTBN2):c.6304G>T (p.Glu2102Ter)
|
|
|
|
NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro)
|
rs121918306
|
|
|
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)
|
rs786205207
|
|
|
NM_007254.4(PNKP):c.1227_1228del (p.Cys409_Glu410delinsTer)
|
rs1477525034
|
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
|
NM_007254.4(PNKP):c.1322_1323insAGCCG (p.Gly442fs)
|
rs886037744
|
|
|
NM_007254.4(PNKP):c.1549_1550insTGTACTGC (p.Gln517fs)
|
rs1555810613
|
|
|
NM_007289.4(MME):c.2154G>T (p.Arg718Ser)
|
rs1284714866
|
|
|
NM_007289.4(MME):c.428G>A (p.Cys143Tyr)
|
rs879255651
|
|
|
NM_007289.4(MME):c.467del (p.Pro156fs)
|
rs749320057
|
|
|
NM_007289.4(MME):c.594dup (p.Val199fs)
|
rs1254522989
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(360_370)
|
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(400_760)
|
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(800_4500)
|
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[850]
|
|
|
|
NM_014053.4(FLVCR1):c.1028T>C (p.Ile343Thr)
|
|
|
|
NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg)
|
rs1558121050
|
|
|
NM_014053.4(FLVCR1):c.382T>A (p.Tyr128Asn)
|
|
|
|
NM_014053.4(FLVCR1):c.441_445del (p.Trp148fs)
|
|
|
|
NM_014053.4(FLVCR1):c.610del (p.Met204fs)
|
|
|
|
NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr)
|
rs267606819
|
|
|
NM_014053.4(FLVCR1):c.730G>A (p.Gly244Ser)
|
rs1664140651
|
|
|
NM_014363.6(SACS):c.10444_10447del (p.Leu3482fs)
|
|
|
|
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)
|
rs786204416
|
|
|
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)
|
rs755186798
|
|
|
NM_014363.6(SACS):c.10634_10635del (p.Val3545fs)
|
rs2137573354
|
|
|
NM_014363.6(SACS):c.10644del (p.Phe3548fs)
|
rs1555250160
|
|
|
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)
|
rs779338945
|
|
|
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)
|
rs1360298758
|
|
|
NM_014363.6(SACS):c.10932dup (p.Leu3645fs)
|
rs2137570842
|
|
|
NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs)
|
|
|
|
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
|
|
|
|
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)
|
rs1400601705
|
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
|
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
|
NM_014363.6(SACS):c.11601_11604del (p.Lys3867fs)
|
|
|
|
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs)
|
rs1593121924
|
|
|
NM_014363.6(SACS):c.1185_1194del (p.Cys395fs)
|
rs2137724246
|
|
|
NM_014363.6(SACS):c.1189dup (p.Ser397fs)
|
|
|
|
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)
|
rs781491486
|
|
|
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter)
|
rs1593121484
|
|
|
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro)
|
rs2137561906
|
|
|
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter)
|
rs2137561134
|
|
|
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro)
|
rs137853016
|
|
|
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)
|
rs141315518
|
|
|
NM_014363.6(SACS):c.12268C>A (p.His4090Asn)
|
rs2137559913
|
|
|
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)
|
rs1057516365
|
|
|
NM_014363.6(SACS):c.12529dup (p.Tyr4177fs)
|
|
|
|
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter)
|
rs2137557832
|
|
|
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)
|
rs1555249555
|
|
|
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
|
|
|
|
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)
|
rs1555249425
|
|
|
NM_014363.6(SACS):c.12839del (p.Phe4280fs)
|
rs1197238841
|
|
|
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)
|
rs786204628
|
|
|
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)
|
rs1057517294
|
|
|
NM_014363.6(SACS):c.13017C>A (p.Asp4339Glu)
|
|
|
|
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)
|
rs747868017
|
|
|
NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter)
|
rs1285760809
|
|
|
NM_014363.6(SACS):c.13319C>A (p.Ser4440Ter)
|
|
|
|
NM_014363.6(SACS):c.13527dup (p.Glu4510fs)
|
rs797045936
|
|
|
NM_014363.6(SACS):c.1358del (p.Gly453fs)
|
rs2137722808
|
|
|
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)
|
rs923921184
|
|
|
NM_014363.6(SACS):c.1769_1770del (p.Val590fs)
|
rs1383333220
|
|
|
NM_014363.6(SACS):c.1919_1920del (p.His640fs)
|
rs797045937
|
|
|
NM_014363.6(SACS):c.1925del (p.Gly642fs)
|
rs2137717323
|
|
|
NM_014363.6(SACS):c.2060del (p.Asp687fs)
|
rs2137716138
|
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
|
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter)
|
rs1057517285
|
|
|
NM_014363.6(SACS):c.237dup (p.Ser80fs)
|
rs770311689
|
|
|
NM_014363.6(SACS):c.2387del (p.Leu796fs)
|
|
|
|
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)
|
rs1555255676
|
|
|
NM_014363.6(SACS):c.2656C>T (p.Gln886Ter)
|
|
|
|
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)
|
rs1593133395
|
|
|
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)
|
rs1259615333
|
|
|
NM_014363.6(SACS):c.2938_2939del (p.Met980fs)
|
rs1593133306
|
|
|
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser)
|
rs137853019
|
|
|
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)
|
rs2137636957
|
|
|
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)
|
rs770866403
|
|
|
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)
|
rs144267558
|
|
|
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter)
|
rs1246013998
|
|
|
NM_014363.6(SACS):c.3585del (p.Ile1195fs)
|
rs2137634136
|
|
|
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
|
rs757179309
|
|
|
NM_014363.6(SACS):c.4033dup (p.Gln1345fs)
|
rs606231163
|
|
|
NM_014363.6(SACS):c.4060C>T (p.Gln1354Ter)
|
|
|
|
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile)
|
rs1566069517
|
|
|
NM_014363.6(SACS):c.4108C>T (p.Gln1370Ter)
|
|
|
|
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter)
|
rs199474695
|
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
|
NM_014363.6(SACS):c.4233_4236del (p.Leu1412fs)
|
|
|
|
NM_014363.6(SACS):c.429_430del (p.Trp144fs)
|
|
|
|
NM_014363.6(SACS):c.4568G>A (p.Trp1523Ter)
|
|
|
|
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter)
|
rs1555252345
|
|
|
NM_014363.6(SACS):c.4645G>T (p.Glu1549Ter)
|
|
|
|
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)
|
rs1444216187
|
|
|
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg)
|
rs2137625077
|
|
|
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro)
|
rs764992284
|
|
|
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)
|
rs765361868
|
|
|
NM_014363.6(SACS):c.4835dup (p.Phe1614fs)
|
rs2137624079
|
|
|
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
|
rs770901638
|
|
|
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
|
|
|
|
NM_014363.6(SACS):c.506G>A (p.Trp169Ter)
|
|
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
|
NM_014363.6(SACS):c.5151del (p.Lys1717fs)
|
rs754439135
|
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
|
NM_014363.6(SACS):c.5263_5264del (p.Lys1755fs)
|
rs199474696
|
|
|
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
|
|
|
|
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
|
rs1868872666
|
|
|
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)
|
rs1566067485
|
|
|
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)
|
rs1485209013
|
|
|
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp)
|
rs2137616027
|
|
|
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs)
|
rs2137615500
|
|
|
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)
|
rs137853017
|
|
|
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
|
rs773754134
|
|
|
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)
|
rs761655321
|
|
|
NM_014363.6(SACS):c.6172del (p.Ser2058fs)
|
rs1214399996
|
|
|
NM_014363.6(SACS):c.6186dup (p.Pro2063fs)
|
rs2137611917
|
|
|
NM_014363.6(SACS):c.6290del (p.Cys2097fs)
|
rs1868755540
|
|
|
NM_014363.6(SACS):c.6312_6313del (p.His2105fs)
|
|
|
|
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs)
|
rs1555251822
|
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
|
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)
|
rs770490672
|
|
|
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln)
|
rs1868700605
|
|
|
NM_014363.6(SACS):c.6663del (p.Lys2221fs)
|
rs1555251699
|
|
|
NM_014363.6(SACS):c.6837dup (p.Glu2280fs)
|
rs748765057
|
|
|
NM_014363.6(SACS):c.6894_6897del (p.Lys2298_Glu2299insTer)
|
|
|
|
NM_014363.6(SACS):c.699del (p.Asp235fs)
|
rs1415870785
|
|
|
NM_014363.6(SACS):c.7106C>T (p.Pro2369Leu)
|
|
|
|
NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter)
|
rs1555251553
|
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
|
NM_014363.6(SACS):c.7255_7259del (p.Glu2419fs)
|
|
|
|
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro)
|
rs771583552
|
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
|
NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter)
|
rs1213203489
|
|
|
NM_014363.6(SACS):c.815G>A (p.Arg272His)
|
rs745907077
|
|
|
NM_014363.6(SACS):c.8227del (p.His2743fs)
|
rs2137593965
|
|
|
NM_014363.6(SACS):c.8239dup (p.Ile2747fs)
|
|
|
|
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
|
|
|
|
NM_014363.6(SACS):c.8310_8313del (p.Asp2771fs)
|
|
|
|
NM_014363.6(SACS):c.832C>T (p.Gln278Ter)
|
rs1555254439
|
|
|
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)
|
rs753012964
|
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
|
NM_014363.6(SACS):c.8833C>T (p.Gln2945Ter)
|
|
|
|
NM_014363.6(SACS):c.9144del (p.Thr3050fs)
|
|
|
|
NM_014363.6(SACS):c.914_915del (p.Thr305fs)
|
rs2137726985
|
|
|
NM_014363.6(SACS):c.9272_9275del (p.Ser3091fs)
|
|
|
|
NM_014363.6(SACS):c.9311del (p.Thr3104fs)
|
|
|
|
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)
|
rs1060503431
|
|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
|
rs1175545518
|
|
|
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs)
|
rs1555250557
|
|
|
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg)
|
rs137853018
|
|
|
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter)
|
rs2137580127
|
|
|
NM_014396.4(VPS41):c.1898G>C (p.Arg633Pro)
|
rs1244049089
|
|
|
NM_014396.4(VPS41):c.2372G>T (p.Cys791Phe)
|
rs1246628003
|
|
|
NM_014396.4(VPS41):c.450+1G>T
|
rs2116102196
|
|
|
NM_014687.4(RUBCN):c.2624del (p.Ala875fs)
|
rs587777235
|
|
|
NM_014687.4(RUBCN):c.2647-2A>G
|
|
|
|
NM_014704.4(CEP104):c.1232del (p.Gly411fs)
|
|
|
|
NM_014704.4(CEP104):c.2364+1G>A
|
|
|
|
NM_014704.4(CEP104):c.89del (p.Thr30fs)
|
rs1570858523
|
|
|
NM_014714.4(IFT140):c.3141+1G>T
|
rs764770536
|
|
|
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
|
|
|
|
NM_014714.4(IFT140):c.3454-488_4182+2588dup
|
|
|
|
NM_014714.4(IFT140):c.874G>A (p.Val292Met)
|
rs431905521
|
|
|
NM_014889.4(PITRM1):c.2236-1dup
|
rs2132393459
|
|
|
NM_015046.5(SETX):c.[1807A>G;1957C>A]
|
|
|
|
NM_015046.5(SETX):c.[3880C>T;822G>H]
|
|
|
|
NM_015046.6(SETX):c.6848_6851delCAGA
|
|
|
|
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter)
|
rs121434381
|
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
|
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro)
|
rs2131461009
|
|
|
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs)
|
rs745775419
|
|
|
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter)
|
rs121434377
|
|
|
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs)
|
rs587776536
|
|
|
NM_015046.7(SETX):c.2987_2988del (p.Arg996fs)
|
|
|
|
NM_015046.7(SETX):c.3212_3213del (p.Phe1071fs)
|
|
|
|
NM_015046.7(SETX):c.3247T>C (p.Phe1083Leu)
|
rs2131444517
|
|
|
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)
|
|
|
|
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
|
|
|
|
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del)
|
rs587776537
|
|
|
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter)
|
rs2131440608
|
|
|
NM_015046.7(SETX):c.387_388+2del
|
|
|
|
NM_015046.7(SETX):c.4679dup (p.Asn1560fs)
|
rs746973259
|
|
|
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)
|
rs759213174
|
|
|
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)
|
|
|
|
NM_015046.7(SETX):c.4931_4932del (p.Ile1644fs)
|
rs2131428041
|
|
|
NM_015046.7(SETX):c.5019del (p.Val1674fs)
|
|
|
|
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)
|
rs1589734405
|
|
|
NM_015046.7(SETX):c.5264del (p.Thr1755fs)
|
rs776632212
|
|
|
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)
|
rs750959420
|
|
|
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)
|
rs797045067
|
|
|
NM_015046.7(SETX):c.5942T>G (p.Leu1981Arg)
|
|
|
|
NM_015046.7(SETX):c.6215_6216del (p.Glu2072fs)
|
rs1564492117
|
|
|
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter)
|
rs1844047388
|
|
|
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter)
|
rs879253866
|
|
|
NM_015046.7(SETX):c.6421dup (p.Gln2141fs)
|
|
|
|
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
|
|
|
|
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)
|
rs1473613373
|
|
|
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu)
|
rs28940290
|
|
|
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs)
|
rs1362178149
|
|
|
NM_015046.7(SETX):c.7121_7122del (p.Val2374fs)
|
rs765371601
|
|
|
NM_015046.7(SETX):c.7151del (p.Cys2384fs)
|
|
|
|
NM_015046.7(SETX):c.719G>A (p.Gly240Asp)
|
rs1589757407
|
|
|
NM_015046.7(SETX):c.7292dup (p.Asn2431fs)
|
rs2131115543
|
|
|
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)
|
rs753611141
|
|
|
NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu)
|
rs869025292
|
|
|
NM_015160.3(PMPCA):c.64C>T (p.Arg22Trp)
|
rs1057519454
|
|
|
NM_015215.4(CAMTA1):c.1455dup (p.Asp486fs)
|
rs2095982231
|
|
|
NM_015215.4(CAMTA1):c.1798dup (p.Ser600fs)
|
|
|
|
NM_015215.4(CAMTA1):c.180_183del (p.Leu61fs)
|
rs2148504421
|
|
|
NM_015215.4(CAMTA1):c.1828C>T (p.Gln610Ter)
|
|
|
|
NM_015215.4(CAMTA1):c.2072_2075del (p.Thr691fs)
|
|
|
|
NM_015215.4(CAMTA1):c.2416_2419del (p.Ser806fs)
|
|
|
|
NM_015215.4(CAMTA1):c.249_252del (p.Ala82_Tyr83insTer)
|
rs1641438649
|
|
|
NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter)
|
rs1576691273
|
|
|
NM_015215.4(CAMTA1):c.2685_2686dup (p.Gln896fs)
|
|
|
|
NM_015215.4(CAMTA1):c.3142C>T (p.Arg1048Ter)
|
rs2149989087
|
|
|
NM_015215.4(CAMTA1):c.3585_3592del (p.Trp1197fs)
|
rs2096780961
|
|
|
NM_015215.4(CAMTA1):c.4049_4051delinsGTGCTGC (p.Pro1350fs)
|
rs2096785839
|
|
|
NM_015215.4(CAMTA1):c.404A>G (p.Glu135Gly)
|
rs2149303084
|
|
|
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter)
|
rs2096866595
|
|
|
NM_015215.4(CAMTA1):c.4767del (p.Lys1589fs)
|
rs754008719
|
|
|
NM_015215.4(CAMTA1):c.511-18459_511-15460del
|
|
|
|
NM_015215.4(CAMTA1):c.578del (p.Gly193fs)
|
|
|
|
NM_015215.4(CAMTA1):c.627del (p.Lys208_Trp209insTer)
|
rs1085307743
|
|
|
NM_015215.4(CAMTA1):c.838del (p.Ser280fs)
|
rs1064796146
|
|
|
NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)
|
rs886041999
|
|
|
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)
|
rs778149316
|
|
|
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)
|
rs267607020
|
|
|
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)
|
rs542206983
|
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
|
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)
|
rs121918199
|
|
|
NM_015378.4(VPS13D):c.10142-2A>G
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|
NM_015378.4(VPS13D):c.1055dup (p.Tyr352Ter)
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|
|
|
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser)
|
rs1557737087
|
|
|
NM_015378.4(VPS13D):c.11926del (p.Gln3976fs)
|
|
|
|
NM_015378.4(VPS13D):c.12350C>G (p.Ser4117Ter)
|
rs1645321968
|
|
|
NM_015378.4(VPS13D):c.12683G>A (p.Arg4228Gln)
|
rs1557478316
|
|
|
NM_015378.4(VPS13D):c.2020C>T (p.Arg674Ter)
|
rs756025227
|
|
|
NM_015378.4(VPS13D):c.3316C>T (p.Gln1106Ter)
|
rs1557680710
|
|
|
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp)
|
rs1557680919
|
|
|
NM_015378.4(VPS13D):c.5409C>A (p.Tyr1803Ter)
|
rs1557684974
|
|
|
NM_015378.4(VPS13D):c.5725+2dup
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|
NM_015378.4(VPS13D):c.7334_7335del (p.Val2445fs)
|
rs1557705968
|
|
|
NM_015378.4(VPS13D):c.9871+2T>C
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|
|
NM_015631.6(TCTN3):c.338_341del (p.His113fs)
|
rs761798713
|
|
|
NM_015631.6(TCTN3):c.615del (p.Ser206fs)
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|
|
|
NM_015631.6(TCTN3):c.622dup (p.Tyr208fs)
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|
|
|
NM_016035.5(COQ4):c.[577C>T;718C>T]
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|
|
NM_016373.4(WWOX):c.1035del (p.Arg346fs)
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NM_016373.4(WWOX):c.1043del (p.Phe348fs)
|
rs1064795117
|
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|
NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter)
|
rs770155582
|
|
|
NM_016373.4(WWOX):c.107+1G>A
|
rs1300924648
|
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|
NM_016373.4(WWOX):c.107+1_107+2delinsTA
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NM_016373.4(WWOX):c.108_112dup (p.Thr38fs)
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NM_016373.4(WWOX):c.1110_1119del (p.Leu371fs)
|
rs2051756247
|
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|
NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg)
|
rs587777127
|
|
|
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter)
|
rs587777127
|
|
|
NM_016373.4(WWOX):c.127C>T (p.Gln43Ter)
|
rs1284883505
|
|
|
NM_016373.4(WWOX):c.131G>A (p.Trp44Ter)
|
rs1057517846
|
|
|
NM_016373.4(WWOX):c.139C>A (p.Pro47Thr)
|
rs587777128
|
|
|
NM_016373.4(WWOX):c.173-1G>C
|
|
|
|
NM_016373.4(WWOX):c.173-1G>T
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NM_016373.4(WWOX):c.1A>C (p.Met1Leu)
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NM_016373.4(WWOX):c.214C>T (p.Gln72Ter)
|
rs201008667
|
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|
NM_016373.4(WWOX):c.255C>G (p.Tyr85Ter)
|
rs990150249
|
|
|
NM_016373.4(WWOX):c.2T>C (p.Met1Thr)
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|
NM_016373.4(WWOX):c.321C>G (p.Tyr107Ter)
|
rs373306276
|
|
|
NM_016373.4(WWOX):c.333del (p.Thr112fs)
|
rs2151674791
|
|
|
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg)
|
rs1567567249
|
|
|
NM_016373.4(WWOX):c.409+1G>C
|
rs1060502727
|
|
|
NM_016373.4(WWOX):c.427_478dup (p.Arg160fs)
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|
|
|
NM_016373.4(WWOX):c.46_49del (p.Asp16fs)
|
rs730880291
|
|
|
NM_016373.4(WWOX):c.517-1G>T
|
rs867163041
|
|
|
NM_016373.4(WWOX):c.552dup (p.Ala185fs)
|
|
|
|
NM_016373.4(WWOX):c.583G>T (p.Glu195Ter)
|
rs1567542020
|
|
|
NM_016373.4(WWOX):c.606-1G>A
|
rs730882215
|
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|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
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|
NM_016373.4(WWOX):c.705dup (p.His236fs)
|
rs1597216056
|
|
|
NM_016373.4(WWOX):c.779C>G (p.Ser260Ter)
|
rs878855021
|
|
|
NM_016373.4(WWOX):c.808_811dup (p.Ser271Ter)
|
|
|
|
NM_016373.4(WWOX):c.854dup (p.Asn285fs)
|
rs1394607357
|
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NM_016373.4(WWOX):c.863G>A (p.Trp288Ter)
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|
NM_016373.4(WWOX):c.918del (p.Glu306fs)
|
rs1057518795
|
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
|
NM_016464.5(TMEM138):c.293G>A (p.Trp98Ter)
|
|
|
|
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs)
|
rs771224190
|
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NM_016464.5(TMEM138):c.306dup (p.Arg103fs)
|
|
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|
NM_016464.5(TMEM138):c.307del (p.Arg103fs)
|
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NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)
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|
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|
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr)
|
rs387907134
|
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NM_016464.5(TMEM138):c.377-3C>G
|
rs774110963
|
|
|
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val)
|
rs387907133
|
|
|
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)
|
rs387907135
|
|
|
NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer)
|
rs2135153244
|
|
|
NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met)
|
rs546968533
|
|
|
NM_016529.6(ATP8A2):c.1272T>G (p.Tyr424Ter)
|
|
|
|
NM_016529.6(ATP8A2):c.1339G>A (p.Gly447Arg)
|
|
|
|
NM_016529.6(ATP8A2):c.1580-18C>G
|
|
|
|
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)
|
rs1566306570
|
|
|
NM_016529.6(ATP8A2):c.2212-1G>C
|
rs2137911082
|
|
|
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs)
|
rs1593326999
|
|
|
NM_016529.6(ATP8A2):c.3183+1G>A
|
rs1952385477
|
|
|
NM_016529.6(ATP8A2):c.3316dup (p.Glu1106fs)
|
|
|
|
NM_016529.6(ATP8A2):c.649C>T (p.Gln217Ter)
|
|
|
|
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs)
|
rs2038491713
|
|
|
NM_016529.6(ATP8A2):c.709del (p.Thr237fs)
|
rs2137994737
|
|
|
NM_016614.3(TDP2):c.413_414delinsAA (p.Ser138Ter)
|
rs879255601
|
|
|
NM_016614.3(TDP2):c.636+3_636+6del
|
rs1240335250
|
|
|
NM_016614.3(TDP2):c.650del (p.Gly217fs)
|
rs1778000792
|
|
|
NM_016614.3(TDP2):c.949C>T (p.Arg317Ter)
|
rs142438588
|
|
|
NM_017686.4(GDAP2):c.1305dup (p.Ser436fs)
|
rs1557794465
|
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
|
NM_017777.4(MKS1):c.1491-2A>G
|
rs886038203
|
|
|
NM_017777.4(MKS1):c.1588+1G>T
|
rs886038204
|
|
|
NM_018012.4(KIF26B):c.5710G>A (p.Asp1904Asn)
|
rs749953234
|
|
|
NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter)
|
rs1405576707
|
|
|
NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs)
|
rs794726680
|
|
|
NM_018075.5(ANO10):c.1244C>G (p.Ser415Ter)
|
|
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
|
NM_018075.5(ANO10):c.1476+1G>T
|
rs761213683
|
|
|
NM_018075.5(ANO10):c.1551dup (p.Ala518fs)
|
rs2079693628
|
|
|
NM_018075.5(ANO10):c.1604del (p.Ala534_Leu535insTer)
|
rs794726681
|
|
|
NM_018075.5(ANO10):c.1669-2A>T
|
rs797045240
|
|
|
NM_018075.5(ANO10):c.1A>T (p.Met1Leu)
|
|
|
|
NM_018075.5(ANO10):c.206T>A (p.Leu69Ter)
|
rs2149481901
|
|
|
NM_018075.5(ANO10):c.306C>A (p.Tyr102Ter)
|
rs1210764379
|
|
|
NM_018075.5(ANO10):c.96del (p.Glu33fs)
|
rs758937084
|
|
|
NM_018294.6(CWF19L1):c.1070G>T (p.Gly357Val)
|
|
|
|
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter)
|
rs1846512047
|
|
|
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs)
|
rs1589611043
|
|
|
NM_018294.6(CWF19L1):c.1375-2A>G
|
|
|
|
NM_018294.6(CWF19L1):c.467del (p.Pro156fs)
|
rs879255654
|
|
|
NM_018294.6(CWF19L1):c.520A>T (p.Lys174Ter)
|
rs2134307362
|
|
|
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter)
|
rs1589625941
|
|
|
NM_018294.6(CWF19L1):c.708+294_1044+1540del
|
|
|
|
NM_018294.6(CWF19L1):c.946A>T (p.Lys316Ter)
|
rs879255653
|
|
|
NM_018718.3(CEP41):c.156del (p.Arg51_Tyr52insTer)
|
|
|
|
NM_018718.3(CEP41):c.33+2T>G
|
rs1584916464
|
|
|
NM_018718.3(CEP41):c.34-2A>G
|
rs1797714974
|
|
|
NM_018718.3(CEP41):c.423-2A>C
|
rs781815473
|
|
|
NM_018718.3(CEP41):c.423-2A>G
|
rs781815473
|
|
|
NM_018718.3(CEP41):c.477del (p.Glu160fs)
|
|
|
|
NM_018718.3(CEP41):c.542_545del (p.Arg181fs)
|
|
|
|
NM_018718.3(CEP41):c.55C>T (p.Gln19Ter)
|
|
|
|
NM_018718.3(CEP41):c.7del (p.Leu3fs)
|
rs1798139951
|
|
|
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)
|
rs1584901211
|
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
|
|
|
NM_018718.3(CEP41):c.880del (p.Leu294fs)
|
|
|
|
NM_018718.3(CEP41):c.97+3_97+5del
|
rs2117674119
|
|
|
NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr)
|
rs886041505
|
|
|
NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val)
|
rs1555558553
|
|
|
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)
|
rs755221106
|
|
|
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)
|
rs121918130
|
|
|
NM_019892.6(INPP5E):c.473del (p.Gly158fs)
|
rs779450345
|
|
|
NM_020247.4(ADCK3):c.[1042C>T;1651G>A]
|
|
|
|
NM_020247.5(COQ8A):c.127del (p.Leu43fs)
|
rs754586499
|
|
|
NM_020247.5(COQ8A):c.1334_1335del (p.Thr445fs)
|
rs797045217
|
|
|
NM_020247.5(COQ8A):c.1358del (p.Leu453fs)
|
rs1271428051
|
|
|
NM_020247.5(COQ8A):c.1396del (p.Glu466fs)
|
rs1553280621
|
|
|
NM_020247.5(COQ8A):c.1398+2T>C
|
rs606231138
|
|
|
NM_020247.5(COQ8A):c.1506+1G>A
|
rs974677376
|
|
|
NM_020247.5(COQ8A):c.1579dup (p.Arg527fs)
|
|
|
|
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)
|
rs1553281318
|
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
|
NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter)
|
rs1572040505
|
|
|
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs)
|
rs387906298
|
|
|
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp)
|
rs752130338
|
|
|
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)
|
rs764847439
|
|
|
NM_020247.5(COQ8A):c.210del (p.Asn71fs)
|
|
|
|
NM_020247.5(COQ8A):c.500_521delinsTTG (p.Gln167fs)
|
rs606231139
|
|
|
NM_020247.5(COQ8A):c.512_521del (p.Gly171fs)
|
|
|
|
NM_020247.5(COQ8A):c.656-1G>T
|
rs903436781
|
|
|
NM_020247.5(COQ8A):c.814G>T (p.Gly272Cys)
|
rs1659735679
|
|
|
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp)
|
rs119468006
|
|
|
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val)
|
rs119468006
|
|
|
NM_020247.5(COQ8A):c.830T>C (p.Leu277Pro)
|
rs781518112
|
|
|
NM_020680.4(SCYL1):c.1173_1174dup (p.His392fs)
|
|
|
|
NM_020680.4(SCYL1):c.1180del (p.Val394fs)
|
|
|
|
NM_020680.4(SCYL1):c.1386+1G>A
|
|
|
|
NM_020680.4(SCYL1):c.1386+1G>T
|
rs201581270
|
|
|
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly)
|
rs1554969925
|
|
|
NM_020680.4(SCYL1):c.1509_1510del (p.Ala504fs)
|
rs864309665
|
|
|
NM_020680.4(SCYL1):c.1534dup (p.Cys512fs)
|
rs1590740858
|
|
|
NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter)
|
rs1554967681
|
|
|
NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter)
|
rs1554970375
|
|
|
NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter)
|
rs1320473430
|
|
|
NM_020680.4(SCYL1):c.937del (p.Val313fs)
|
rs864309664
|
|
|
NM_020871.4(LRCH2):c.772A>G (p.Lys258Glu)
|
rs2147404569
|
|
|
NM_021614.4(KCNN2):c.1436_1439del (p.Leu478_Tyr479insTer)
|
rs1758879579
|
|
|
NM_021614.4(KCNN2):c.1931T>C (p.Leu644Pro)
|
rs1747594790
|
|
|
NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val)
|
rs587777671
|
|
|
NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val)
|
rs587777670
|
|
|
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)
|
rs28937887
|
|
|
NM_021830.5(TWNK):c.1729_1732del (p.Ala577fs)
|
|
|
|
NM_021830.5(TWNK):c.333del (p.Leu112fs)
|
rs886037832
|
|
|
NM_021830.5(TWNK):c.49del (p.Leu17fs)
|
rs779142717
|
|
|
NM_021954.4(GJA3):c.56C>T (p.Thr19Met)
|
rs1114167307
|
|
|
NM_022464.5(SIL1):c.1029+1G>A
|
|
|
|
NM_022464.5(SIL1):c.1030-18G>A
|
|
|
|
NM_022464.5(SIL1):c.1035del (p.Phe345fs)
|
|
|
|
NM_022464.5(SIL1):c.1117del (p.Leu373fs)
|
|
|
|
NM_022464.5(SIL1):c.1127_1128del (p.Gln376fs)
|
|
|
|
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter)
|
rs119456966
|
|
|
NM_022464.5(SIL1):c.1321G>T (p.Glu441Ter)
|
|
|
|
NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)
|
|
|
|
NM_022464.5(SIL1):c.195_217del (p.Glu65fs)
|
|
|
|
NM_022464.5(SIL1):c.212dup (p.His71fs)
|
|
|
|
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
|
|
|
|
NM_022464.5(SIL1):c.506_509dup (p.Asp170fs)
|
|
|
|
NM_022464.5(SIL1):c.603_607del (p.Glu201fs)
|
|
|
|
NM_022464.5(SIL1):c.645+1G>A
|
|
|
|
NM_022464.5(SIL1):c.645+2T>C
|
|
|
|
NM_022464.5(SIL1):c.685dup (p.Gln229fs)
|
|
|
|
NM_022464.5(SIL1):c.767+1G>A
|
|
|
|
NM_022464.5(SIL1):c.88del (p.Leu30fs)
|
|
|
|
NM_022464.5(SIL1):c.936del (p.Leu313fs)
|
|
|
|
NM_022464.5(SIL1):c.936dup (p.Leu313fs)
|
|
|
|
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
|
|
|
|
NM_022464.5:c.454-6721_768-23561del
|
|
|
|
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe)
|
rs587777598
|
|
|
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)
|
rs1554162016
|
|
|
NM_022726.4(ELOVL4):c.736T>G (p.Trp246Gly)
|
rs1131692036
|
|
|
NM_023077.3(COA7):c.17A>G (p.Asp6Gly)
|
rs780572767
|
|
|
NM_023077.3(COA7):c.247+1G>T
|
rs1197945739
|
|
|
NM_023077.3(COA7):c.431del (p.Gly144fs)
|
rs1558102464
|
|
|
NM_023077.3(COA7):c.446G>T (p.Ser149Ile)
|
rs1558102448
|
|
|
NM_024809.5(TCTN2):c.1550dup (p.His517fs)
|
|
|
|
NM_024809.5(TCTN2):c.1806dup (p.Thr603fs)
|
|
|
|
NM_024818.6(UBA5):c.736C>T (p.Arg246Ter)
|
rs540839115
|
|
|
NM_024818.6(UBA5):c.928A>G (p.Lys310Glu)
|
rs886039762
|
|
|
NM_025114.4(CEP290):c.103-1G>T
|
rs863225188
|
|
|
NM_025114.4(CEP290):c.1189+1G>A
|
rs2039659434
|
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
|
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)
|
rs771266705
|
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
|
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs)
|
rs886043303
|
|
|
NM_025114.4(CEP290):c.1623+1G>A
|
rs863225186
|
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
|
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)
|
rs727503855
|
|
|
NM_025114.4(CEP290):c.1830del (p.Glu610fs)
|
rs992032116
|
|
|
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs)
|
rs1033594764
|
|
|
NM_025114.4(CEP290):c.1992del (p.Pro665fs)
|
rs770175184
|
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
|
NM_025114.4(CEP290):c.2112del (p.Val705fs)
|
rs863225183
|
|
|
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)
|
rs62635288
|
|
|
NM_025114.4(CEP290):c.2213del (p.Asn737_Leu738insTer)
|
rs2137720951
|
|
|
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)
|
rs753884599
|
|
|
NM_025114.4(CEP290):c.2317dup (p.Ser773fs)
|
rs1555218898
|
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
|
NM_025114.4(CEP290):c.2569A>T (p.Lys857Ter)
|
|
|
|
NM_025114.4(CEP290):c.270_274del (p.Lys90fs)
|
|
|
|
NM_025114.4(CEP290):c.2818-657T>G
|
|
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
|
NM_025114.4(CEP290):c.297+1G>A
|
rs878853360
|
|
|
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
|
rs62640570
|
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
|
NM_025114.4(CEP290):c.3176del (p.Ile1059fs)
|
rs863225184
|
|
|
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs)
|
rs878853362
|
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
|
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)
|
rs2036824785
|
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
|
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)
|
rs587783016
|
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
|
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter)
|
rs1339975972
|
|
|
NM_025114.4(CEP290):c.4045_4046del (p.Met1349fs)
|
rs2036720274
|
|
|
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)
|
rs779645669
|
|
|
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs)
|
rs1555208870
|
|
|
NM_025114.4(CEP290):c.4384del (p.Glu1462fs)
|
rs863225182
|
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
|
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
|
rs757309583
|
|
|
NM_025114.4(CEP290):c.4656del (p.Glu1553fs)
|
rs62640572
|
|
|
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)
|
rs1292516576
|
|
|
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)
|
rs62640574
|
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
|
NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter)
|
rs886039808
|
|
|
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs)
|
rs2036318355
|
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
|
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs)
|
rs756302731
|
|
|
NM_025114.4(CEP290):c.5329C>T (p.Gln1777Ter)
|
rs774410421
|
|
|
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs)
|
rs757609119
|
|
|
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs)
|
rs749331348
|
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
|
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs)
|
rs281865187
|
|
|
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)
|
rs1592807018
|
|
|
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
|
rs727503853
|
|
|
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)
|
rs281865188
|
|
|
NM_025114.4(CEP290):c.566C>G (p.Ser189Ter)
|
|
|
|
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)
|
rs267606719
|
|
|
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
|
rs1592784618
|
|
|
NM_025114.4(CEP290):c.5803del (p.Glu1935fs)
|
|
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
|
NM_025114.4(CEP290):c.6072C>A (p.Tyr2024Ter)
|
rs779262951
|
|
|
NM_025114.4(CEP290):c.6135+1G>A
|
rs2035114607
|
|
|
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)
|
rs863225185
|
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
|
NM_025114.4(CEP290):c.6640A>T (p.Lys2214Ter)
|
|
|
|
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter)
|
rs2034232539
|
|
|
NM_025114.4(CEP290):c.679_680del (p.Glu227fs)
|
rs62640578
|
|
|
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)
|
rs2033943937
|
|
|
NM_025114.4(CEP290):c.6869del (p.Asn2290fs)
|
rs587783017
|
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
|
NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter)
|
rs863225187
|
|
|
NM_025114.4(CEP290):c.6964A>T (p.Lys2322Ter)
|
|
|
|
NM_025114.4(CEP290):c.7027del (p.Val2343fs)
|
rs2033827549
|
|
|
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
|
rs2138086844
|
|
|
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter)
|
rs2136546576
|
|
|
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
|
rs747138345
|
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
|
NM_025114.4(CEP290):c.7341del (p.Lys2447fs)
|
rs281865189
|
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
|
NM_025114.4(CEP290):c.828del (p.Glu277fs)
|
rs1555225566
|
|
|
NM_032856.5(WDR73):c.1039C>T (p.His347Tyr)
|
rs754099015
|
|
|
NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter)
|
rs727502863
|
|
|
NM_032856.5(WDR73):c.285_287+1dup
|
|
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
|
NM_032856.5(WDR73):c.400_401del (p.Trp136fs)
|
rs767086146
|
|
|
NM_032856.5(WDR73):c.475C>T (p.Gln159Ter)
|
|
|
|
NM_032856.5(WDR73):c.68T>A (p.Leu23Gln)
|
rs797044993
|
|
|
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs)
|
rs1596050297
|
|
|
NM_032856.5(WDR73):c.766dup (p.Arg256fs)
|
rs727502864
|
|
|
NM_032856.5(WDR73):c.82C>T (p.Arg28Ter)
|
|
|
|
NM_032856.5(WDR73):c.888del (p.Phe296fs)
|
rs869320712
|
|
|
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter)
|
rs797044994
|
|
|
NM_033064.5(ATCAY):c.602_608del (p.Asp201fs)
|
rs2145248615
|
|
|
NM_033064.5(ATCAY):c.[903C>G;965+3G>T]
|
|
|
|
NM_033109.5(PNPT1):c.2014-3C>G
|
rs748445058
|
|
|
NM_033109.5(PNPT1):c.2069+3A>G
|
rs2104026165
|
|
|
NM_130837.3(OPA1):c.460A>T (p.Lys154Ter)
|
|
|
|
NM_144992.5(VWA3B):c.1191T>G (p.Tyr397Ter)
|
rs546662496
|
|
|
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp)
|
rs1555863693
|
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
|
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile)
|
rs557939077
|
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
|
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
|
rs267606670
|
|
|
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)
|
rs398122887
|
|
|
NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly)
|
rs797044897
|
|
|
NM_152617.4(RNF168):c.1323_1326del (p.Gln442fs)
|
rs1047608955
|
|
|
NM_152617.4(RNF168):c.397dup (p.Ala133fs)
|
rs1577516447
|
|
|
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu)
|
rs1554341671
|
|
|
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln)
|
rs878855336
|
|
|
NM_152703.5(SAMD9L):c.2672T>C (p.Ile891Thr)
|
rs1554341277
|
|
|
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys)
|
rs1554341158
|
|
|
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser)
|
rs878855337
|
|
|
NM_153704.6(TMEM67):c.1285C>T (p.Gln429Ter)
|
|
|
|
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu)
|
rs386834183
|
|
|
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)
|
rs137853107
|
|
|
NM_153704.6(TMEM67):c.1961-2A>C
|
rs758948621
|
|
|
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter)
|
rs1554558363
|
|
|
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
|
|
|
|
NM_153704.6(TMEM67):c.2556+1G>T
|
rs786200867
|
|
|
NM_153704.6(TMEM67):c.274G>A (p.Gly92Arg)
|
|
|
|
NM_153704.6(TMEM67):c.2758del (p.Tyr920fs)
|
|
|
|
NM_153704.6(TMEM67):c.439C>T (p.Gln147Ter)
|
rs1554615516
|
|
|
NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter)
|
rs1563672487
|
|
|
NM_153816.2(SNX14):c.1108+1181_2108-2342del
|
|
|
|
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys)
|
rs201128942
|
|
|
NM_153816.6(SNX14):c.1608+1G>T
|
rs749656742
|
|
|
NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs)
|
rs1057519561
|
|
|
NM_153816.6(SNX14):c.1878del (p.Lys626fs)
|
|
|
|
NM_153816.6(SNX14):c.1894+1G>T
|
rs876657386
|
|
|
NM_153816.6(SNX14):c.2148+1G>T
|
|
|
|
NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter)
|
rs876657385
|
|
|
NM_153816.6(SNX14):c.428T>A (p.Leu143Ter)
|
rs876657387
|
|
|
NM_153816.6(SNX14):c.645dup (p.Glu216fs)
|
rs869320748
|
|
|
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs)
|
rs80356539
|
|
|
NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs)
|
rs318240735
|
|
|
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)
|
rs80356538
|
|
|
NM_175929.3(FGF14):c.208+239747CTT[250]
|
|
|
|
NM_181882.3(PRX):c.3198del (p.Phe1066fs)
|
rs1599651549
|
|
|
NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter)
|
rs1203553546
|
|
|
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter)
|
rs2096893099
|
|
|
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
|
|
|
|
NM_182961.4(SYNE1):c.11560del (p.Ala3854fs)
|
|
|
|
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
|
|
|
|
NM_182961.4(SYNE1):c.1172del (p.Arg391fs)
|
|
|
|
NM_182961.4(SYNE1):c.11909_11910del (p.Met3970fs)
|
rs606231135
|
|
|
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs)
|
rs1564367104
|
|
|
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter)
|
rs1590463470
|
|
|
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs)
|
rs886042380
|
|
|
NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)
|
|
|
|
NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)
|
|
|
|
NM_182961.4(SYNE1):c.13021_13022del (p.Thr4341fs)
|
|
|
|
NM_182961.4(SYNE1):c.13299del (p.His4433fs)
|
rs1563130387
|
|
|
NM_182961.4(SYNE1):c.1369del (p.Asp457fs)
|
rs1554768245
|
|
|
NM_182961.4(SYNE1):c.13948C>T (p.Arg4650Ter)
|
rs866163858
|
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NM_182961.4(SYNE1):c.14278del (p.His4760fs)
|
rs2153970781
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NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
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NM_182961.4(SYNE1):c.14584C>T (p.Gln4862Ter)
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NM_182961.4(SYNE1):c.14673del (p.Glu4892fs)
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NM_182961.4(SYNE1):c.15049C>T (p.Gln5017Ter)
|
rs1563088209
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NM_182961.4(SYNE1):c.15280del (p.Asp5094fs)
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NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter)
|
rs1270730854
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NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
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NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs)
|
rs1291249200
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NM_182961.4(SYNE1):c.1584del (p.Lys529fs)
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NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter)
|
rs781354327
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NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter)
|
rs772587027
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NM_182961.4(SYNE1):c.16228C>T (p.Arg5410Ter)
|
rs761432453
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NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
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NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
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NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter)
|
rs797046024
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NM_182961.4(SYNE1):c.16501_16504del (p.Ile5501fs)
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NM_182961.4(SYNE1):c.16804del (p.Met5602fs)
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NM_182961.4(SYNE1):c.16815_16821dup (p.Glu5608fs)
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rs886043923
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NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter)
|
rs777656140
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NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter)
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rs2153836962
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NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)
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rs746328978
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NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
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NM_182961.4(SYNE1):c.17373C>A (p.Tyr5791Ter)
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NM_182961.4(SYNE1):c.17628_17643del (p.Pro5877fs)
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rs2153809530
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NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)
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NM_182961.4(SYNE1):c.17801del (p.Thr5934fs)
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NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs)
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rs794727986
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NM_182961.4(SYNE1):c.17872_17875del (p.Leu5958fs)
|
rs2153783491
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NM_182961.4(SYNE1):c.18012+1G>T
|
rs1562842409
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NM_182961.4(SYNE1):c.18141_18144del (p.Thr6048fs)
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rs2153732048
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NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter)
|
rs2153709458
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NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter)
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rs910956017
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NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)
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NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
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NM_182961.4(SYNE1):c.1903dup (p.Met635fs)
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NM_182961.4(SYNE1):c.1941dup (p.Arg648fs)
|
rs775516009
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NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter)
|
rs1258745040
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NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)
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NM_182961.4(SYNE1):c.19444del (p.Arg6482fs)
|
rs2153619687
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NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter)
|
rs1057520134
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NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs)
|
rs1385280819
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NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter)
|
rs766499430
|
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NM_182961.4(SYNE1):c.20179del (p.Asp6727fs)
|
rs2153537904
|
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NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)
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NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)
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NM_182961.4(SYNE1):c.20436del (p.Gln6812fs)
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NM_182961.4(SYNE1):c.20970del (p.Asp6991fs)
|
rs1554247806
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NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
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NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter)
|
rs1554226673
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NM_182961.4(SYNE1):c.21741C>A (p.Tyr7247Ter)
|
rs1269308421
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NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter)
|
rs138032057
|
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NM_182961.4(SYNE1):c.21819del (p.Asp7273fs)
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NM_182961.4(SYNE1):c.21934C>T (p.Gln7312Ter)
|
rs886042421
|
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NM_182961.4(SYNE1):c.22369C>T (p.Gln7457Ter)
|
rs119103245
|
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NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter)
|
rs1554573328
|
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NM_182961.4(SYNE1):c.225+1del
|
rs2154353746
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NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs)
|
rs1554553667
|
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NM_182961.4(SYNE1):c.23068C>T (p.Arg7690Ter)
|
rs749432519
|
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NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter)
|
rs119103244
|
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NM_182961.4(SYNE1):c.23392del (p.Gln7798fs)
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NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
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NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
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NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)
|
rs1586296730
|
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NM_182961.4(SYNE1):c.24537del (p.Leu8180fs)
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NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)
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NM_182961.4(SYNE1):c.24977-13_24996del
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NM_182961.4(SYNE1):c.25006C>T (p.Arg8336Ter)
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NM_182961.4(SYNE1):c.25258C>T (p.Arg8420Ter)
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NM_182961.4(SYNE1):c.25271_25273delinsA (p.Leu8424fs)
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NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
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NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)
|
rs2098713648
|
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NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
|
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NM_182961.4(SYNE1):c.25888G>T (p.Glu8630Ter)
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NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter)
|
rs2154254291
|
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NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter)
|
rs1564136499
|
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NM_182961.4(SYNE1):c.3130C>T (p.Arg1044Ter)
|
rs757719808
|
|
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NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
|
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NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer)
|
rs1554721227
|
|
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NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)
|
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NM_182961.4(SYNE1):c.3925C>T (p.Arg1309Ter)
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NM_182961.4(SYNE1):c.4044_4047del (p.Asn1348fs)
|
rs2098527248
|
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NM_182961.4(SYNE1):c.4327del (p.Met1443fs)
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NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs)
|
rs794727577
|
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NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter)
|
rs757744079
|
|
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NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)
|
rs988770583
|
|
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NM_182961.4(SYNE1):c.4609C>T (p.Arg1537Ter)
|
rs983431074
|
|
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NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer)
|
rs1554829141
|
|
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NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter)
|
rs771955377
|
|
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NM_182961.4(SYNE1):c.4975_4976+8del
|
rs1592490234
|
|
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NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter)
|
rs1563941569
|
|
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NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter)
|
rs1554676394
|
|
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NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter)
|
rs2154194664
|
|
|
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)
|
rs1466752822
|
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NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs)
|
rs2154182611
|
|
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NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
|
|
|
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NM_182961.4(SYNE1):c.5895del (p.Leu1966fs)
|
rs2098158268
|
|
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NM_182961.4(SYNE1):c.6128del (p.Lys2043fs)
|
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|
|
NM_182961.4(SYNE1):c.6226G>T (p.Glu2076Ter)
|
rs2098101022
|
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NM_182961.4(SYNE1):c.6376del (p.Ser2126fs)
|
rs2154170060
|
|
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NM_182961.4(SYNE1):c.639del (p.His214fs)
|
rs1412791793
|
|
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NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter)
|
rs1417491327
|
|
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NM_182961.4(SYNE1):c.67+1G>A
|
rs1213042460
|
|
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NM_182961.4(SYNE1):c.6724-1G>A
|
rs2154157186
|
|
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NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter)
|
rs2154151091
|
|
|
NM_182961.4(SYNE1):c.6877del (p.Glu2293fs)
|
rs797046026
|
|
|
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)
|
rs2154331501
|
|
|
NM_182961.4(SYNE1):c.7085dup (p.Asn2362fs)
|
rs2154147676
|
|
|
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
|
|
|
|
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
|
|
|
|
NM_182961.4(SYNE1):c.7911G>A (p.Trp2637Ter)
|
rs2154133792
|
|
|
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
|
|
|
|
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter)
|
rs946657984
|
|
|
NM_182961.4(SYNE1):c.8618C>G (p.Ser2873Ter)
|
rs1332414511
|
|
|
NM_182961.4(SYNE1):c.8636del (p.Lys2879fs)
|
rs2097516516
|
|
|
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter)
|
rs2154115529
|
|
|
NM_182961.4(SYNE1):c.8885del (p.Val2962fs)
|
rs750544827
|
|
|
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)
|
|
|
|
NM_182961.4(SYNE1):c.99del (p.Phe33fs)
|
|
|
|
NM_182961.4(SYNE1):c.[20263C>T;8889del]
|
|
|
|
NM_198994.3(TGM6):c.1336+1G>T
|
rs2122376594
|
|
|
NM_198994.3(TGM6):c.1719AGA[1] (p.Glu574del)
|
rs793888526
|
|
|
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
|
|
|
|
NR_029422.2(RNU12):n.84C>T
|
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|
|
RFC1, (ACAGG)n REPEAT EXPANSION
|
|
|
|
Single allele
|
|
|
|
THAP11, (CAG)n REPEAT EXPANSION
|
|
|
|
c.10_11 ins10bp
|
|
|
|
c.1180-1181delCT
|
|
|
|
c.1263+81_1596+?del
|
|
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c.1323C>T
|
|
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c.1330-1333delTTCC
|
|
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c.2249ins9
|
|
|
|
c.2639del200nt
|
|
|
|
c.3802delG
|
|
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c.599C>T
|
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c.7271T>G
|
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|
|
c.8313-2A>C
|
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