NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
NM_001114753.3(ENG):c.-10C>T
|
rs756994701
|
0.00001
|
NM_001114753.3(ENG):c.524-2A>G
|
rs1060501414
|
0.00001
|
NC_000009.11:g.(?_130577951)_(130581121_?)del
|
|
|
NC_000009.11:g.(?_130577951)_(130582326_?)del
|
|
|
NC_000009.11:g.(?_130578090)_130581774del
|
|
|
NC_000009.11:g.(?_130578196)_(130581131_?)del
|
|
|
NC_000009.11:g.(?_130578196)_(130582336_?)del
|
|
|
NC_000009.11:g.(?_130578196)_(130592116_?)del
|
|
|
NC_000009.11:g.(?_130579418)_(130579492_?)del
|
|
|
NC_000009.11:g.(?_130586563)_(130605544_?)dup
|
|
|
NC_000009.11:g.(?_130586635)_(130592750_?)del
|
|
|
NC_000009.11:g.(?_130587069)_(130592116_?)del
|
|
|
NC_000009.11:g.(?_130605351)_(130616761_?)del
|
|
|
NC_000009.12:g.(?_127815672)_(127854482_?)del
|
|
|
NC_000009.12:g.(?_127815907)_(127854365_?)del
|
|
|
NC_000009.12:g.(?_127815917)_(127854482_?)del
|
|
|
NC_000009.12:g.(?_127819612)_(127829837_?)del
|
|
|
NC_000009.12:g.(?_127824294)_(127824456_?)del
|
|
|
NC_000009.12:g.(?_127825214)_(127826683_?)del
|
|
|
NC_000009.12:g.(?_127829681)_(127829833_?)del
|
|
|
NC_000009.12:g.(?_127843084)_(127843255_?)dup
|
|
|
NC_000009.12:g.(?_127854279)_(127854365_?)del
|
|
|
NC_000009.12:g.(?_127854279)_(127854482_?)del
|
|
|
NM_001114753.3(ENG):c.-127C>T
|
rs1060501408
|
|
NM_001114753.3(ENG):c.-8_8del (p.Met1fs)
|
rs1588604603
|
|
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
|
|
|
NM_001114753.3(ENG):c.1024C>T (p.Gln342Ter)
|
rs774429348
|
|
NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs)
|
rs1064792934
|
|
NM_001114753.3(ENG):c.1042del (p.Asp348fs)
|
rs2131885976
|
|
NM_001114753.3(ENG):c.1051_1052del (p.Ser351fs)
|
|
|
NM_001114753.3(ENG):c.1076dup (p.Gln360fs)
|
rs2131885883
|
|
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)
|
rs863223540
|
|
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs)
|
rs1554810051
|
|
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg)
|
rs2131885848
|
|
NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser)
|
rs1588580782
|
|
NM_001114753.3(ENG):c.1111dup (p.Val371fs)
|
rs1554810041
|
|
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs)
|
rs1064793734
|
|
NM_001114753.3(ENG):c.1134+1G>A
|
rs112809381
|
|
NM_001114753.3(ENG):c.1134G>C (p.Ala378=)
|
rs1329127701
|
|
NM_001114753.3(ENG):c.119del (p.Gly40fs)
|
rs369596004
|
|
NM_001114753.3(ENG):c.132_133del (p.Thr45fs)
|
rs2131918640
|
|
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)
|
rs1831082433
|
|
NM_001114753.3(ENG):c.145G>T (p.Val49Phe)
|
rs1252348200
|
|
NM_001114753.3(ENG):c.149C>A (p.Ser50Ter)
|
rs927607049
|
|
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
|
|
|
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
|
rs148475405
|
|
NM_001114753.3(ENG):c.164del (p.Ala55fs)
|
rs1831081460
|
|
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter)
|
rs1588596879
|
|
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter)
|
rs1588596830
|
|
NM_001114753.3(ENG):c.1A>C (p.Met1Leu)
|
rs1060501418
|
|
NM_001114753.3(ENG):c.1A>G (p.Met1Val)
|
rs1060501418
|
|
NM_001114753.3(ENG):c.218_219insTCCA (p.Gly74fs)
|
|
|
NM_001114753.3(ENG):c.219+1G>A
|
rs1554812253
|
|
NM_001114753.3(ENG):c.219+2T>C
|
rs2131918332
|
|
NM_001114753.3(ENG):c.219+4_219+7del
|
|
|
NM_001114753.3(ENG):c.219G>A (p.Thr73=)
|
rs755348996
|
|
NM_001114753.3(ENG):c.220-1G>A
|
rs1554810936
|
|
NM_001114753.3(ENG):c.224del (p.Pro75fs)
|
rs1554810932
|
|
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter)
|
rs1588585997
|
|
NM_001114753.3(ENG):c.229del (p.Gln77fs)
|
rs1554810928
|
|
NM_001114753.3(ENG):c.233dup (p.Glu79fs)
|
|
|
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter)
|
rs763992842
|
|
NM_001114753.3(ENG):c.239del (p.Leu80fs)
|
|
|
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro)
|
rs1564466414
|
|
NM_001114753.3(ENG):c.244del (p.Leu82fs)
|
rs1554810921
|
|
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter)
|
rs863223532
|
|
NM_001114753.3(ENG):c.268_274del (p.Thr90fs)
|
|
|
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)
|
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001114753.3(ENG):c.277dup (p.Arg93fs)
|
rs1830717066
|
|
NM_001114753.3(ENG):c.278del (p.Arg93fs)
|
|
|
NM_001114753.3(ENG):c.280G>T (p.Glu94Ter)
|
rs1588585941
|
|
NM_001114753.3(ENG):c.290T>G (p.Leu97Arg)
|
rs2131895129
|
|
NM_001114753.3(ENG):c.2T>G (p.Met1Arg)
|
rs267606783
|
|
NM_001114753.3(ENG):c.314T>A (p.Val105Asp)
|
rs1588585880
|
|
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter)
|
rs1830713927
|
|
NM_001114753.3(ENG):c.360+1G>A
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+1G>C
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+1G>T
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+2T>C
|
|
|
NM_001114753.3(ENG):c.360+5G>A
|
rs1060501417
|
|
NM_001114753.3(ENG):c.360+5G>C
|
rs1060501417
|
|
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter)
|
rs121918402
|
|
NM_001114753.3(ENG):c.361-36_370del
|
rs2131890746
|
|
NM_001114753.3(ENG):c.375_378dup (p.Phe127fs)
|
rs2131890702
|
|
NM_001114753.3(ENG):c.392del (p.Pro131fs)
|
rs1554810510
|
|
NM_001114753.3(ENG):c.392dup (p.Val133fs)
|
|
|
NM_001114753.3(ENG):c.397del (p.Val133fs)
|
rs1588583640
|
|
NM_001114753.3(ENG):c.397dup (p.Val133fs)
|
rs1588583640
|
|
NM_001114753.3(ENG):c.3G>A (p.Met1Ile)
|
|
|
NM_001114753.3(ENG):c.405dup (p.Thr136fs)
|
rs2131890631
|
|
NM_001114753.3(ENG):c.41T>C (p.Leu14Pro)
|
rs1554813788
|
|
NM_001114753.3(ENG):c.41_51dup (p.Ser18fs)
|
|
|
NM_001114753.3(ENG):c.41del (p.Leu14fs)
|
|
|
NM_001114753.3(ENG):c.437del (p.Ile146fs)
|
|
|
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)
|
rs878853657
|
|
NM_001114753.3(ENG):c.457_458del (p.Arg153fs)
|
rs2131890509
|
|
NM_001114753.3(ENG):c.461dup (p.Ile156fs)
|
rs1830620889
|
|
NM_001114753.3(ENG):c.463_486del (p.Pro155_Leu162del)
|
|
|
NM_001114753.3(ENG):c.468del (p.Thr157fs)
|
rs1830620832
|
|
NM_001114753.3(ENG):c.478dup (p.Ala160fs)
|
|
|
NM_001114753.3(ENG):c.488_491del (p.Asn163fs)
|
rs1588583530
|
|
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu)
|
rs1830620321
|
|
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
|
rs1830620247
|
|
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)
|
rs1554810490
|
|
NM_001114753.3(ENG):c.523+1G>A
|
rs113930974
|
|
NM_001114753.3(ENG):c.523+1G>C
|
rs113930974
|
|
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)
|
rs1588583488
|
|
NM_001114753.3(ENG):c.527del (p.Gln176fs)
|
rs1830603743
|
|
NM_001114753.3(ENG):c.558del (p.Ser187fs)
|
rs2131889490
|
|
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter)
|
rs863223537
|
|
NM_001114753.3(ENG):c.562dup (p.Gln188fs)
|
rs1588582962
|
|
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)
|
rs1830602163
|
|
NM_001114753.3(ENG):c.571_573delinsTG (p.Gly191fs)
|
rs1830601919
|
|
NM_001114753.3(ENG):c.572del (p.Gly191fs)
|
rs1564456374
|
|
NM_001114753.3(ENG):c.577_588delinsGT (p.Thr193fs)
|
rs1830601036
|
|
NM_001114753.3(ENG):c.580_596del (p.Leu194fs)
|
rs2131889284
|
|
NM_001114753.3(ENG):c.581_605del (p.Leu194fs)
|
|
|
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg)
|
rs2131889336
|
|
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter)
|
rs1588582870
|
|
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter)
|
rs1588582860
|
|
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs)
|
rs1554810405
|
|
NM_001114753.3(ENG):c.595dup (p.Arg199fs)
|
|
|
NM_001114753.3(ENG):c.600_603dup (p.Ala202fs)
|
rs1830599875
|
|
NM_001114753.3(ENG):c.613dup (p.Arg205fs)
|
|
|
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)
|
|
|
NM_001114753.3(ENG):c.617del (p.Gly206fs)
|
rs1830599423
|
|
NM_001114753.3(ENG):c.621C>A (p.Cys207Ter)
|
rs1440769928
|
|
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter)
|
rs1243079862
|
|
NM_001114753.3(ENG):c.635_654del (p.Val212fs)
|
|
|
NM_001114753.3(ENG):c.63del (p.Thr22fs)
|
|
|
NM_001114753.3(ENG):c.640_643del (p.Gly214fs)
|
rs864622666
|
|
NM_001114753.3(ENG):c.654_655del (p.Ile220fs)
|
rs2131889054
|
|
NM_001114753.3(ENG):c.657_658del (p.Ile220fs)
|
rs2131889044
|
|
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)
|
rs1588582695
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
NM_001114753.3(ENG):c.662T>G (p.Leu221Arg)
|
rs1554810378
|
|
NM_001114753.3(ENG):c.67+1G>A
|
rs1554813783
|
|
NM_001114753.3(ENG):c.67+2T>C
|
rs2131936480
|
|
NM_001114753.3(ENG):c.674del (p.Pro225fs)
|
rs1830596596
|
|
NM_001114753.3(ENG):c.67del (p.Ser23fs)
|
rs878853658
|
|
NM_001114753.3(ENG):c.68-18C>A
|
rs372807542
|
|
NM_001114753.3(ENG):c.68-1G>A
|
rs878853659
|
|
NM_001114753.3(ENG):c.68-2A>T
|
|
|
NM_001114753.3(ENG):c.68-3C>G
|
rs773334730
|
|
NM_001114753.3(ENG):c.683C>A (p.Ser228Ter)
|
rs1452543778
|
|
NM_001114753.3(ENG):c.689+1G>A
|
rs1588582594
|
|
NM_001114753.3(ENG):c.689+1G>T
|
|
|
NM_001114753.3(ENG):c.689+2T>A
|
rs863223535
|
|
NM_001114753.3(ENG):c.690-1G>A
|
rs1554810272
|
|
NM_001114753.3(ENG):c.690-1G>C
|
rs1554810272
|
|
NM_001114753.3(ENG):c.690-2A>T
|
rs1564455970
|
|
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1])
|
rs1588582060
|
|
NM_001114753.3(ENG):c.706_708del (p.Val236del)
|
rs1064794221
|
|
NM_001114753.3(ENG):c.707T>A (p.Val236Glu)
|
rs1588582073
|
|
NM_001114753.3(ENG):c.713T>A (p.Val238Glu)
|
rs1060501415
|
|
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter)
|
rs1064794220
|
|
NM_001114753.3(ENG):c.715dup (p.Glu239fs)
|
rs1554810257
|
|
NM_001114753.3(ENG):c.721_725del (p.Ser241fs)
|
rs1064794219
|
|
NM_001114753.3(ENG):c.743del (p.Asp248fs)
|
rs1588581961
|
|
NM_001114753.3(ENG):c.752_768del (p.Leu251fs)
|
rs1830580547
|
|
NM_001114753.3(ENG):c.753_781del (p.Ile252fs)
|
rs1588581867
|
|
NM_001114753.3(ENG):c.754_756del (p.Ile252del)
|
|
|
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr)
|
rs2131887851
|
|
NM_001114753.3(ENG):c.765del (p.Tyr258fs)
|
rs1554810232
|
|
NM_001114753.3(ENG):c.766_776del (p.Pro256fs)
|
rs1830579764
|
|
NM_001114753.3(ENG):c.767_786del (p.Pro256fs)
|
rs2131887701
|
|
NM_001114753.3(ENG):c.770_771del (p.Pro257fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.771del (p.Tyr258fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.771dup (p.Tyr258fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.772del (p.Tyr258fs)
|
rs1830580093
|
|
NM_001114753.3(ENG):c.773_776delinsGCAGGGTC (p.Tyr258fs)
|
|
|
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)
|
rs537154767
|
|
NM_001114753.3(ENG):c.776del (p.Val259fs)
|
rs1588581880
|
|
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs)
|
rs1830579577
|
|
NM_001114753.3(ENG):c.778dup (p.Ser260fs)
|
rs2131887737
|
|
NM_001114753.3(ENG):c.782G>A (p.Trp261Ter)
|
rs1060501420
|
|
NM_001114753.3(ENG):c.787_789del (p.Ile263del)
|
rs1830579035
|
|
NM_001114753.3(ENG):c.806T>A (p.Met269Lys)
|
rs752331196
|
|
NM_001114753.3(ENG):c.806T>G (p.Met269Arg)
|
rs752331196
|
|
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)
|
rs1554810215
|
|
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter)
|
rs1588581785
|
|
NM_001114753.3(ENG):c.816+2T>C
|
|
|
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter)
|
rs886041326
|
|
NM_001114753.3(ENG):c.817-1G>C
|
rs1564455715
|
|
NM_001114753.3(ENG):c.828del (p.Glu276fs)
|
|
|
NM_001114753.3(ENG):c.831C>A (p.Tyr277Ter)
|
rs121918400
|
|
NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter)
|
rs121918400
|
|
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
|
|
|
NM_001114753.3(ENG):c.836del (p.Phe279fs)
|
rs2131887155
|
|
NM_001114753.3(ENG):c.851del (p.Glu284fs)
|
rs2131887114
|
|
NM_001114753.3(ENG):c.863_867dup (p.Phe290fs)
|
rs2131887087
|
|
NM_001114753.3(ENG):c.872_874delinsT (p.Lys291fs)
|
|
|
NM_001114753.3(ENG):c.875dup (p.Asp294fs)
|
|
|
NM_001114753.3(ENG):c.880_881del (p.Asp294fs)
|
rs886042916
|
|
NM_001114753.3(ENG):c.885_886del (p.Pro296fs)
|
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
NM_001114753.3(ENG):c.904G>T (p.Glu302Ter)
|
rs1060501419
|
|
NM_001114753.3(ENG):c.904dup (p.Glu302fs)
|
rs1554810177
|
|
NM_001114753.3(ENG):c.911_918del (p.Arg304fs)
|
rs1564455604
|
|
NM_001114753.3(ENG):c.920dup (p.Asn307fs)
|
rs1554810174
|
|
NM_001114753.3(ENG):c.922dup (p.Ala308fs)
|
rs2131886942
|
|
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)
|
rs1482440395
|
|
NM_001114753.3(ENG):c.924_927dup (p.Ile310fs)
|
|
|
NM_001114753.3(ENG):c.932T>G (p.Val311Gly)
|
|
|
NM_001114753.3(ENG):c.944_945del (p.Val315fs)
|
|
|
NM_001114753.3(ENG):c.955_956insGAAGACAA (p.Leu319fs)
|
|
|
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
|
|
|
NM_001114753.3(ENG):c.965_966del (p.Ile322fs)
|
|
|
NM_001114753.3(ENG):c.966dup (p.Val323fs)
|
|
|
NM_001114753.3(ENG):c.973dup (p.Leu325fs)
|
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NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter)
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rs1588581338
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NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
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NM_001114753.3(ENG):c.991+1del
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NM_001114753.3(ENG):c.991+2T>C
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rs1564455554
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NM_001114753.3(ENG):c.991+2T>G
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rs1564455554
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NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
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rs1060501410
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NM_001114753.3(ENG):c.992-2A>G
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rs1588580932
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NM_001114753.3(ENG):c.996_997dup (p.Arg333fs)
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rs2131886094
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NM_001114753.3(ENG):c.997_1001del (p.Arg333fs)
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