NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)
|
rs371720347
|
0.00022
|
NM_017534.6(MYH2):c.2405T>A (p.Leu802Ter)
|
rs758395765
|
0.00018
|
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter)
|
rs80358249
|
0.00016
|
NM_001458.5(FLNC):c.970-4A>G
|
rs532143625
|
0.00015
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
0.00013
|
NM_000183.3(HADHB):c.1A>G (p.Met1Val)
|
rs763333945
|
0.00010
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)
|
rs1458048713
|
0.00006
|
NM_001164508.2(NEB):c.3255+1G>A
|
rs375628303
|
0.00006
|
NM_001267550.2(TTN):c.39974-11T>G
|
rs758597536
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
|
rs121908185
|
0.00006
|
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser)
|
rs367579275
|
0.00006
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_000183.3(HADHB):c.182G>A (p.Arg61His)
|
rs121913132
|
0.00005
|
NM_001100.4(ACTA1):c.436del (p.Ala146fs)
|
rs1395648272
|
0.00005
|
NM_001267550.2(TTN):c.86821+2T>A
|
rs397517735
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_020451.3(SELENON):c.1A>G (p.Met1Val)
|
rs121908184
|
0.00005
|
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)
|
rs375329638
|
0.00004
|
NM_001164508.2(NEB):c.21417+3A>G
|
rs148950085
|
0.00004
|
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)
|
rs200731870
|
0.00004
|
NM_001164508.2(NEB):c.9619-2A>G
|
rs375145370
|
0.00004
|
NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter)
|
rs775072385
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_004168.4(SDHA):c.1663+3G>C
|
rs751904543
|
0.00004
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
NM_004369.4(COL6A3):c.2162C>G (p.Ser721Ter)
|
rs377632042
|
0.00004
|
NM_004369.4(COL6A3):c.8966-1G>C
|
rs767517186
|
0.00004
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)
|
rs121909523
|
0.00003
|
NM_001164508.2(NEB):c.12018+1G>A
|
rs762278237
|
0.00003
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)
|
rs769345284
|
0.00003
|
NM_001164508.2(NEB):c.21504del (p.Asn7169fs)
|
rs934955715
|
0.00003
|
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)
|
rs754272530
|
0.00003
|
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)
|
rs886042995
|
0.00003
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
NM_001267550.2(TTN):c.49648+2del
|
rs727504851
|
0.00003
|
NM_001267550.2(TTN):c.89197+1G>C
|
rs1131691873
|
0.00003
|
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter)
|
rs757836789
|
0.00003
|
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
0.00003
|
NM_001849.4(COL6A2):c.1461del (p.Ser488fs)
|
rs398123645
|
0.00003
|
NM_001927.4(DES):c.226del (p.Thr76fs)
|
rs1399282762
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys)
|
rs778737664
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter)
|
rs750232956
|
0.00003
|
NM_020451.3(SELENON):c.1010+1G>A
|
rs908682527
|
0.00003
|
NM_152393.4(KLHL40):c.602G>A (p.Trp201Ter)
|
rs397509420
|
0.00003
|
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)
|
rs137852771
|
0.00002
|
NM_000182.5(HADHA):c.676+2T>C
|
rs772683361
|
0.00002
|
NM_000183.3(HADHB):c.210-1G>T
|
rs200777054
|
0.00002
|
NM_000183.3(HADHB):c.97C>T (p.Arg33Ter)
|
rs752264795
|
0.00002
|
NM_001100.4(ACTA1):c.84_85insT (p.Pro29fs)
|
rs753923758
|
0.00002
|
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)
|
rs776569219
|
0.00002
|
NM_001164508.2(NEB):c.24402C>G (p.Tyr8134Ter)
|
rs758277406
|
0.00002
|
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)
|
rs1057517977
|
0.00002
|
NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg)
|
rs387907072
|
0.00002
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser)
|
rs774263134
|
0.00002
|
NM_001849.4(COL6A2):c.115+2T>C
|
rs770842374
|
0.00002
|
NM_001849.4(COL6A2):c.1496G>A (p.Gly499Glu)
|
rs886042332
|
0.00002
|
NM_001849.4(COL6A2):c.954+5G>C
|
rs750755566
|
0.00002
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs)
|
rs1471550984
|
0.00002
|
NM_017534.6(MYH2):c.2347C>T (p.Arg783Ter)
|
rs762121316
|
0.00002
|
NM_017534.6(MYH2):c.2377C>T (p.Arg793Ter)
|
rs545623839
|
0.00002
|
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter)
|
rs780124402
|
0.00002
|
NM_017534.6(MYH2):c.3331C>T (p.Gln1111Ter)
|
rs758264018
|
0.00002
|
NM_017534.6(MYH2):c.4537C>T (p.Gln1513Ter)
|
rs929311433
|
0.00002
|
NM_017534.6(MYH2):c.625G>T (p.Glu209Ter)
|
rs1250462450
|
0.00002
|
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)
|
rs377215510
|
0.00002
|
NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro)
|
rs778022582
|
0.00002
|
NM_198271.5(LMOD3):c.131_132del (p.Pro44fs)
|
rs1300427865
|
0.00002
|
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter)
|
rs137852770
|
0.00001
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter)
|
rs1057516461
|
0.00001
|
NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs)
|
rs796051971
|
0.00001
|
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)
|
rs771028541
|
0.00001
|
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)
|
rs200438844
|
0.00001
|
NM_000182.5(HADHA):c.2200A>T (p.Lys734Ter)
|
rs1322871046
|
0.00001
|
NM_000182.5(HADHA):c.315-1G>A
|
rs1458898996
|
0.00001
|
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)
|
rs780351691
|
0.00001
|
NM_000183.3(HADHB):c.255-1G>A
|
rs112842641
|
0.00001
|
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)
|
rs552292698
|
0.00001
|
NM_000183.3(HADHB):c.693_696dup (p.Ala233fs)
|
rs745646607
|
0.00001
|
NM_000183.3(HADHB):c.740G>A (p.Arg247His)
|
rs121913133
|
0.00001
|
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)
|
rs587783753
|
0.00001
|
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
|
rs587783771
|
0.00001
|
NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro)
|
rs121909519
|
0.00001
|
NM_001100.4(ACTA1):c.616+1G>A
|
rs111812550
|
0.00001
|
NM_001164508.2(NEB):c.10899G>A (p.Trp3633Ter)
|
rs780343350
|
0.00001
|
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)
|
rs928945364
|
0.00001
|
NM_001164508.2(NEB):c.1152+1G>A
|
rs398124167
|
0.00001
|
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter)
|
rs377182240
|
0.00001
|
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)
|
rs1490309743
|
0.00001
|
NM_001164508.2(NEB):c.1470+1G>A
|
rs1220787593
|
0.00001
|
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)
|
rs1255744452
|
0.00001
|
NM_001164508.2(NEB):c.1674+1G>T
|
rs750585238
|
0.00001
|
NM_001164508.2(NEB):c.17118+1G>A
|
rs747946275
|
0.00001
|
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)
|
rs1475648900
|
0.00001
|
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)
|
rs539819851
|
0.00001
|
NM_001164508.2(NEB):c.18891+1G>A
|
rs1443738549
|
0.00001
|
NM_001164508.2(NEB):c.19101+5G>A
|
rs374929094
|
0.00001
|
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)
|
rs1553740233
|
0.00001
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001164508.2(NEB):c.20503C>T (p.Arg6835Ter)
|
rs370098540
|
0.00001
|
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)
|
rs750900690
|
0.00001
|
NM_001164508.2(NEB):c.22144A>C (p.Thr7382Pro)
|
rs761232641
|
0.00001
|
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)
|
rs748922882
|
0.00001
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
NM_001164508.2(NEB):c.22591-1G>C
|
rs757157808
|
0.00001
|
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)
|
rs555582398
|
0.00001
|
NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter)
|
rs1323364980
|
0.00001
|
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs)
|
rs1553552413
|
0.00001
|
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)
|
rs756726488
|
0.00001
|
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)
|
rs1218073575
|
0.00001
|
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)
|
rs1257495033
|
0.00001
|
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs)
|
rs762133567
|
0.00001
|
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)
|
rs555445835
|
0.00001
|
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter)
|
rs758327681
|
0.00001
|
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs)
|
rs1472403020
|
0.00001
|
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter)
|
rs747179265
|
0.00001
|
NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter)
|
rs1433028646
|
0.00001
|
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter)
|
rs778104284
|
0.00001
|
NM_001164508.2(NEB):c.2784del (p.Asp929fs)
|
rs786204430
|
0.00001
|
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)
|
rs1553548666
|
0.00001
|
NM_001164508.2(NEB):c.294+1G>A
|
rs759956258
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001164508.2(NEB):c.2943+1G>A
|
rs113091511
|
0.00001
|
NM_001164508.2(NEB):c.3879+1G>A
|
rs746999970
|
0.00001
|
NM_001164508.2(NEB):c.5574C>G (p.Tyr1858Ter)
|
rs781185019
|
0.00001
|
NM_001164508.2(NEB):c.5763+5G>A
|
rs776167256
|
0.00001
|
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter)
|
rs1032240985
|
0.00001
|
NM_001164508.2(NEB):c.6076-1G>T
|
rs1553469502
|
0.00001
|
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)
|
rs756363951
|
0.00001
|
NM_001164508.2(NEB):c.7228-1G>A
|
rs1057516996
|
0.00001
|
NM_001164508.2(NEB):c.78+1G>A
|
rs778593702
|
0.00001
|
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)
|
rs750548574
|
0.00001
|
NM_001164508.2(NEB):c.928-1G>A
|
rs1162553327
|
0.00001
|
NM_001164508.2(NEB):c.9414+1G>T
|
rs1255445731
|
0.00001
|
NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter)
|
rs989552169
|
0.00001
|
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)
|
rs766265889
|
0.00001
|
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)
|
rs794729305
|
0.00001
|
NM_001267550.2(TTN):c.105805del (p.Thr35269fs)
|
rs752787097
|
0.00001
|
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter)
|
rs779948923
|
0.00001
|
NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter)
|
rs565675340
|
0.00001
|
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)
|
rs1009131948
|
0.00001
|
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)
|
rs757082154
|
0.00001
|
NM_001267550.2(TTN):c.14093-1G>A
|
rs869312099
|
0.00001
|
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn)
|
rs1190242728
|
0.00001
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs)
|
rs765879488
|
0.00001
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
NM_001267550.2(TTN):c.44816-1G>A
|
rs749705939
|
0.00001
|
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)
|
rs727505350
|
0.00001
|
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)
|
rs397517580
|
0.00001
|
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter)
|
rs751746401
|
0.00001
|
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)
|
rs374140736
|
0.00001
|
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter)
|
rs794729265
|
0.00001
|
NM_001267550.2(TTN):c.51436+1G>A
|
rs761807131
|
0.00001
|
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)
|
rs1343120755
|
0.00001
|
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter)
|
rs72646828
|
0.00001
|
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter)
|
rs794729275
|
0.00001
|
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter)
|
rs1057522256
|
0.00001
|
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)
|
rs878854324
|
0.00001
|
NM_001267550.2(TTN):c.67349-2A>C
|
rs753948675
|
0.00001
|
NM_001267550.2(TTN):c.72669del (p.Asp24224fs)
|
rs727504531
|
0.00001
|
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)
|
rs545954490
|
0.00001
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)
|
rs727505284
|
0.00001
|
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter)
|
rs886055237
|
0.00001
|
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)
|
rs770038577
|
0.00001
|
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)
|
rs776065839
|
0.00001
|
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)
|
rs794729301
|
0.00001
|
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)
|
rs146572907
|
0.00001
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter)
|
rs869312085
|
0.00001
|
NM_001458.5(FLNC):c.3791-1G>C
|
rs781135153
|
0.00001
|
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met)
|
rs1420394583
|
0.00001
|
NM_001848.3(COL6A1):c.244C>T (p.Arg82Ter)
|
rs1422385556
|
0.00001
|
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)
|
rs374669775
|
0.00001
|
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)
|
rs749593004
|
0.00001
|
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp)
|
rs2078657536
|
0.00001
|
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)
|
rs886042922
|
0.00001
|
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)
|
rs387906610
|
0.00001
|
NM_001849.4(COL6A2):c.2851_2852del (p.Val951fs)
|
rs762385362
|
0.00001
|
NM_001927.4(DES):c.1237G>T (p.Glu413Ter)
|
rs61726467
|
0.00001
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
NM_001927.4(DES):c.254_255insT (p.Gly86fs)
|
rs1273708097
|
0.00001
|
NM_001927.4(DES):c.322G>T (p.Glu108Ter)
|
rs62636490
|
0.00001
|
NM_001927.4(DES):c.369del (p.Ile123fs)
|
rs747289875
|
0.00001
|
NM_001927.4(DES):c.600del (p.Lys201fs)
|
rs727504448
|
0.00001
|
NM_001927.4(DES):c.634C>T (p.Arg212Ter)
|
rs781590560
|
0.00001
|
NM_001927.4(DES):c.885G>A (p.Trp295Ter)
|
rs146755676
|
0.00001
|
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)
|
rs746165168
|
0.00001
|
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)
|
rs151170408
|
0.00001
|
NM_004168.4(SDHA):c.1338del (p.His447fs)
|
rs1735791499
|
0.00001
|
NM_004168.4(SDHA):c.1340A>G (p.His447Arg)
|
rs779151375
|
0.00001
|
NM_004168.4(SDHA):c.1352G>A (p.Arg451His)
|
rs370690436
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter)
|
rs747249998
|
0.00001
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)
|
rs775827529
|
0.00001
|
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)
|
rs771328239
|
0.00001
|
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)
|
rs387906875
|
0.00001
|
NM_004369.4(COL6A3):c.1825C>T (p.Arg609Ter)
|
rs755382829
|
0.00001
|
NM_004369.4(COL6A3):c.2362C>T (p.Gln788Ter)
|
rs948586287
|
0.00001
|
NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter)
|
rs781043870
|
0.00001
|
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)
|
rs771941724
|
0.00001
|
NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter)
|
rs774115247
|
0.00001
|
NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His)
|
rs541928674
|
0.00001
|
NM_004369.4(COL6A3):c.76C>T (p.Gln26Ter)
|
rs763187844
|
0.00001
|
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter)
|
rs1304140510
|
0.00001
|
NM_006063.3(KLHL41):c.1027C>T (p.Gln343Ter)
|
rs779140230
|
0.00001
|
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)
|
rs121908458
|
0.00001
|
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter)
|
rs727503132
|
0.00001
|
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter)
|
rs727503123
|
0.00001
|
NM_017534.6(MYH2):c.2173A>T (p.Lys725Ter)
|
rs1027921042
|
0.00001
|
NM_017534.6(MYH2):c.52C>T (p.Arg18Ter)
|
rs769712128
|
0.00001
|
NM_020451.3(SELENON):c.1209dup (p.Lys404fs)
|
rs745715484
|
0.00001
|
NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter)
|
rs760063405
|
0.00001
|
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp)
|
rs752156505
|
0.00001
|
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp)
|
rs756927098
|
0.00001
|
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter)
|
rs960468382
|
0.00001
|
NM_020451.3(SELENON):c.300del (p.Ser102fs)
|
rs1269951927
|
0.00001
|
NM_020451.3(SELENON):c.372G>A (p.Trp124Ter)
|
rs934913626
|
0.00001
|
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)
|
rs778603129
|
0.00001
|
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)
|
rs775713184
|
0.00001
|
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)
|
rs199564797
|
0.00001
|
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)
|
rs777176261
|
0.00001
|
NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)
|
rs1202215410
|
0.00001
|
NM_152393.4(KLHL40):c.1498C>T (p.Arg500Cys)
|
rs758188096
|
0.00001
|
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys)
|
rs397509419
|
0.00001
|
NM_198271.5(LMOD3):c.1201C>T (p.Arg401Ter)
|
rs724159964
|
0.00001
|
NC_000001.10:g.(?_25870190)_(26142209_?)del
|
|
|
NC_000002.11:g.(?_152380815)_(152384109_?)del
|
|
|
NC_000002.11:g.(?_152408232)_(152432888_?)del
|
|
|
NC_000002.11:g.(?_152417187)_(152418727_?)del
|
|
|
NC_000002.11:g.(?_152466303)_(152563531_?)del
|
|
|
NC_000002.11:g.(?_152466303)_(152955525_?)del
|
|
|
NC_000002.11:g.(?_152470770)_(152554182_?)del
|
|
|
NC_000002.11:g.(?_152475955)_(152476286_?)del
|
|
|
NC_000002.11:g.(?_152482028)_(152566297_?)del
|
|
|
NC_000002.11:g.(?_152482028)_(152567072_?)del
|
|
|
NC_000002.11:g.(?_152499078)_(152500653_?)del
|
|
|
NC_000002.11:g.(?_152506680)_(152510623_?)del
|
|
|
NC_000002.11:g.(?_152524298)_(152525665_?)del
|
|
|
NC_000002.11:g.(?_152579876)_(152589670_?)del
|
|
|
NC_000002.11:g.(?_219135239)_(220290732_?)del
|
|
|
NC_000002.11:g.(?_220283185)_(220290712_?)del
|
|
|
NC_000002.11:g.(?_236403331)_(242801596_?)del
|
|
|
NC_000002.11:g.(?_237481970)_(238305470_?)del
|
|
|
NC_000002.11:g.(?_26414109)_(26415303_?)del
|
|
|
NC_000002.11:g.(?_26414109)_(26462021_?)del
|
|
|
NC_000002.11:g.(?_26414119)_(26462031_?)del
|
|
|
NC_000002.11:g.(?_26416426)_(26418121_?)del
|
|
|
NC_000002.11:g.(?_26416436)_(26418111_?)del
|
|
|
NC_000002.11:g.(?_26467378)_(26467464_?)del
|
|
|
NC_000002.11:g.(?_26492801)_(26496638_?)del
|
|
|
NC_000002.12:g.(?_151485750)_(151957616_?)del
|
|
|
NC_000002.12:g.(?_151614266)_(151697658_?)del
|
|
|
NC_000002.12:g.(?_151645758)_(151648259_?)del
|
|
|
NC_000002.12:g.(?_151646110)_(151646254_?)del
|
|
|
NC_000002.12:g.(?_151646120)_(151646244_?)del
|
|
|
NC_000002.12:g.(?_219418453)_(219426000_?)del
|
|
|
NC_000002.12:g.(?_237358501)_(237361194_?)del
|
|
|
NC_000002.12:g.(?_26236845)_(26239153_?)del
|
|
|
NC_000002.12:g.237345214del
|
|
|
NC_000002.12:g.26201318_26201321del
|
|
|
NC_000003.11:g.(?_69158226)_(69171557_?)del
|
|
|
NC_000006.11:g.(?_75796253)_(75912518_?)del
|
|
|
NC_000006.11:g.(?_75833026)_(75912508_?)del
|
|
|
NC_000006.11:g.(?_75855798)_(75861023_?)del
|
|
|
NC_000007.13:g.(?_128469483)_(128500328_?)del
|
|
|
NC_000007.13:g.(?_128470682)_(128498587_?)del
|
|
|
NC_000007.13:g.(?_128470692)_(128498577_?)del
|
|
|
NC_000007.13:g.(?_128475360)_(128478877_?)del
|
|
|
NC_000007.13:g.(?_128480619)_(128486474_?)del
|
|
|
NC_000007.13:g.(?_128487731)_(128488142_?)del
|
|
|
NC_000007.14:g.(?_128830618)_(128858543_?)del
|
|
|
NC_000007.14:g.(?_128848551)_(128848992_?)del
|
|
|
NC_000007.14:g.128837160del
|
|
|
NC_000007.14:g.128854417_128854448del
|
|
|
NC_000010.10:g.(?_121411178)_(121437012_?)del
|
|
|
NC_000010.10:g.(?_121411188)_(121411387_?)del
|
|
|
NC_000010.10:g.(?_121435956)_(121436794_?)del
|
|
|
NC_000010.11:g.(?_119676454)_(119677500_?)del
|
|
|
NC_000011.10:g.(?_3856251)_(4091818_?)del
|
|
|
NC_000011.10:g.(?_4059271)_(4059406_?)del
|
|
|
NC_000011.9:g.(?_3988762)_(4113028_?)del
|
|
|
NC_000011.9:g.(?_4076736)_(4076887_?)del
|
|
|
NC_000012.11:g.(?_122064648)_(122064976_?)del
|
|
|
NC_000014.9:g.(?_34710372)_(34713686_?)del
|
|
|
NC_000014.9:g.(?_34712845)_(34714560_?)del
|
|
|
NC_000017.10:g.(?_10424597)_(10451237_?)del
|
|
|
NC_000017.11:g.(?_9794928)_(10547930_?)del
|
|
|
NC_000017.11:g.10535371_10535372insGGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATTCTCCTGTAA
|
|
|
NC_000019.10:g.(?_55140863)_(55147177_?)del
|
|
|
NC_000019.10:g.(?_55140863)_(55151937_?)del
|
|
|
NC_000019.10:g.(?_55140873)_(55147167_?)del
|
|
|
NC_000019.9:g.(?_55652544)_(55656943_?)del
|
|
|
NC_000021.8:g.(?_47407403)_(47407578_?)del
|
|
|
NC_000021.8:g.(?_47408988)_(47410346_?)del
|
|
|
NC_000021.8:g.(?_47422287)_(47423978_?)del
|
|
|
NC_000021.8:g.(?_47529674)_(47540994_?)del
|
|
|
NC_000021.8:g.(?_47529674)_47540994del
|
|
|
NC_000021.8:g.(?_47533070)_47584395del
|
|
|
NC_000021.8:g.(?_47536737)_(47537399_?)del
|
|
|
NC_000021.9:g.(?_45981831)_(46132572_?)del
|
|
|
NC_000021.9:g.(?_45986526)_(45987654_?)del
|
|
|
NC_000021.9:g.(?_45989064)_(45989157_?)del
|
|
|
NC_000021.9:g.(?_46111467)_(46121133_?)del
|
|
|
NC_000021.9:g.(?_46111477)_(46121123_?)del
|
|
|
NC_000021.9:g.46116773dup
|
|
|
NC_000021.9:g.46119791_46119798dup
|
|
|
NC_000023.10:g.(?_149613783)_(150573536_?)del
|
|
|
NC_000023.10:g.(?_149761067)_(149761149_?)del
|
|
|
NC_000023.10:g.(?_149761067)_(149840078_?)del
|
|
|
NC_000023.10:g.(?_149826274)_(149840088_?)del
|
|
|
NC_000023.10:g.(?_149831886)_(149840088_?)del
|
|
|
NC_000023.10:g.(?_149831896)_(149832092_?)del
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
NC_000023.10:g.(?_153639844)_(153642537_?)del
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)del
|
|
|
NC_000023.10:g.(?_153647872)_(153650075_?)del
|
|
|
NM_000116.5(TAFAZZIN):c.109+5G>A
|
rs2148185111
|
|
NM_000116.5(TAFAZZIN):c.110-2A>G
|
rs1603376833
|
|
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)
|
rs2148186224
|
|
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.238+1del
|
|
|
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)
|
rs1557191170
|
|
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)
|
rs104894942
|
|
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)
|
rs1060500044
|
|
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)
|
rs1060500044
|
|
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)
|
rs2148191858
|
|
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)
|
rs1569552731
|
|
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)
|
rs1603377945
|
|
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
|
|
|
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
|
|
|
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
|
|
|
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)
|
rs794729167
|
|
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
|
|
|
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
|
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)
|
rs1085307797
|
|
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)
|
rs1603381860
|
|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
|
NM_000182.5(HADHA):c.1002del (p.Glu335fs)
|
|
|
NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter)
|
|
|
NM_000182.5(HADHA):c.1070del (p.Pro357fs)
|
rs1670051013
|
|
NM_000182.5(HADHA):c.1086-3_1092del
|
rs1057516460
|
|
NM_000182.5(HADHA):c.1167dup (p.Lys390Ter)
|
rs2147762308
|
|
NM_000182.5(HADHA):c.1183dup (p.Thr395fs)
|
|
|
NM_000182.5(HADHA):c.1204C>T (p.Gln402Ter)
|
rs2147762267
|
|
NM_000182.5(HADHA):c.1209del (p.Val404fs)
|
|
|
NM_000182.5(HADHA):c.1231_1235del (p.Lys411fs)
|
|
|
NM_000182.5(HADHA):c.1249del (p.Ala416_Leu417insTer)
|
|
|
NM_000182.5(HADHA):c.1261G>T (p.Glu421Ter)
|
|
|
NM_000182.5(HADHA):c.129dup (p.Gly44fs)
|
rs1298883200
|
|
NM_000182.5(HADHA):c.1319dup (p.Ala441fs)
|
rs2147759662
|
|
NM_000182.5(HADHA):c.1336G>T (p.Glu446Ter)
|
|
|
NM_000182.5(HADHA):c.1361_1364dup (p.Lys455delinsAsnTer)
|
|
|
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
|
|
|
NM_000182.5(HADHA):c.1491_1495dup (p.Tyr499fs)
|
rs2147753741
|
|
NM_000182.5(HADHA):c.1523del (p.Leu508fs)
|
rs754145990
|
|
NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter)
|
rs137852769
|
|
NM_000182.5(HADHA):c.1540del (p.Thr514fs)
|
rs1478391725
|
|
NM_000182.5(HADHA):c.1549del (p.Thr517fs)
|
|
|
NM_000182.5(HADHA):c.1554del (p.Asp520fs)
|
rs2147753630
|
|
NM_000182.5(HADHA):c.156_157del (p.Arg53fs)
|
|
|
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)
|
rs147103714
|
|
NM_000182.5(HADHA):c.1590del (p.Lys531fs)
|
rs1057516991
|
|
NM_000182.5(HADHA):c.160del (p.Ile54fs)
|
|
|
NM_000182.5(HADHA):c.1620+1del
|
rs2147753555
|
|
NM_000182.5(HADHA):c.1620+2_1620+6del
|
rs764557236
|
|
NM_000182.5(HADHA):c.1644del (p.Arg549fs)
|
rs1267615713
|
|
NM_000182.5(HADHA):c.1654dup (p.Ala552fs)
|
rs2147753069
|
|
NM_000182.5(HADHA):c.1689+2T>C
|
|
|
NM_000182.5(HADHA):c.1689+2T>G
|
rs1574602991
|
|
NM_000182.5(HADHA):c.1690-17_1690-2del
|
rs1669581856
|
|
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs)
|
rs1278248464
|
|
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
|
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
NM_000182.5(HADHA):c.1893del (p.Lys631fs)
|
|
|
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs)
|
rs1057517397
|
|
NM_000182.5(HADHA):c.1917T>A (p.Tyr639Ter)
|
|
|
NM_000182.5(HADHA):c.1921del (p.Glu641fs)
|
|
|
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)
|
rs779113356
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
NM_000182.5(HADHA):c.1990_1993dup (p.Ser665Ter)
|
rs757671025
|
|
NM_000182.5(HADHA):c.2000+1G>A
|
|
|
NM_000182.5(HADHA):c.2000+1G>C
|
rs1167218743
|
|
NM_000182.5(HADHA):c.2010del (p.Asp670fs)
|
|
|
NM_000182.5(HADHA):c.2011del (p.Glu671fs)
|
|
|
NM_000182.5(HADHA):c.2020C>T (p.Gln674Ter)
|
rs2147749450
|
|
NM_000182.5(HADHA):c.2020dup (p.Gln674fs)
|
|
|
NM_000182.5(HADHA):c.2027G>A (p.Arg676His)
|
rs1204190984
|
|
NM_000182.5(HADHA):c.2039_2040dup (p.Phe681fs)
|
|
|
NM_000182.5(HADHA):c.2063_2087dup (p.Glu699fs)
|
|
|
NM_000182.5(HADHA):c.2132dup (p.Pro712fs)
|
rs1574600309
|
|
NM_000182.5(HADHA):c.2146+1G>A
|
rs794727219
|
|
NM_000182.5(HADHA):c.2167_2168dup (p.Tyr724fs)
|
|
|
NM_000182.5(HADHA):c.2208T>A (p.Tyr736Ter)
|
rs774114061
|
|
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)
|
rs868816467
|
|
NM_000182.5(HADHA):c.2231del (p.Phe744fs)
|
|
|
NM_000182.5(HADHA):c.238del (p.Trp80fs)
|
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
NM_000182.5(HADHA):c.294del (p.Phe98fs)
|
rs2147784383
|
|
NM_000182.5(HADHA):c.310dup (p.Ile104fs)
|
rs1670773680
|
|
NM_000182.5(HADHA):c.315-2A>T
|
|
|
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter)
|
rs1670695733
|
|
NM_000182.5(HADHA):c.352_353del (p.Gln118fs)
|
rs1670695370
|
|
NM_000182.5(HADHA):c.387_388del (p.Lys129fs)
|
rs780350631
|
|
NM_000182.5(HADHA):c.469C>T (p.Gln157Ter)
|
|
|
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter)
|
rs2147781182
|
|
NM_000182.5(HADHA):c.612dup (p.Arg205Ter)
|
rs1574623071
|
|
NM_000182.5(HADHA):c.637_638del (p.Lys213fs)
|
|
|
NM_000182.5(HADHA):c.676+1G>A
|
rs1670587668
|
|
NM_000182.5(HADHA):c.690del (p.Lys230fs)
|
rs2147769993
|
|
NM_000182.5(HADHA):c.6_24dup (p.Ile9fs)
|
rs1456890163
|
|
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)
|
rs786204607
|
|
NM_000182.5(HADHA):c.703_704dup (p.Thr236fs)
|
|
|
NM_000182.5(HADHA):c.70dup (p.Tyr24fs)
|
|
|
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)
|
rs1553316176
|
|
NM_000182.5(HADHA):c.761_764del (p.Lys254fs)
|
|
|
NM_000182.5(HADHA):c.841C>T (p.Gln281Ter)
|
|
|
NM_000182.5(HADHA):c.844_845insA (p.Val282fs)
|
rs774235292
|
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
|
NM_000182.5(HADHA):c.878dup (p.Thr294fs)
|
|
|
NM_000182.5(HADHA):c.893del (p.Tyr298fs)
|
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
NM_000182.5(HADHA):c.930_931del (p.Gly311fs)
|
|
|
NM_000182.5(HADHA):c.944_956del (p.Gly315fs)
|
|
|
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer)
|
rs2147768516
|
|
NM_000183.3(HADHB):c.1137del (p.His379fs)
|
|
|
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val)
|
rs764623179
|
|
NM_000183.3(HADHB):c.1279G>T (p.Gly427Ter)
|
|
|
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly)
|
rs267606859
|
|
NM_000183.3(HADHB):c.1389+5G>A
|
|
|
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)
|
|
|
NM_000183.3(HADHB):c.209C>G (p.Ser70Ter)
|
|
|
NM_000183.3(HADHB):c.410dup (p.Cys138fs)
|
|
|
NM_000183.3(HADHB):c.417del (p.Ser140fs)
|
|
|
NM_000183.3(HADHB):c.50G>A (p.Trp17Ter)
|
|
|
NM_000183.3(HADHB):c.568A>T (p.Lys190Ter)
|
|
|
NM_000183.3(HADHB):c.590_591delinsAA (p.Ser197Ter)
|
|
|
NM_000183.3(HADHB):c.607C>T (p.Arg203Ter)
|
|
|
NM_000183.3(HADHB):c.615_616insCTCTAAT (p.Phe206delinsLeuTer)
|
|
|
NM_000183.3(HADHB):c.637_638delinsTA (p.Ala213Ter)
|
|
|
NM_000183.3(HADHB):c.646G>T (p.Glu216Ter)
|
rs2147825407
|
|
NM_000183.3(HADHB):c.685C>T (p.Arg229Ter)
|
rs759136382
|
|
NM_000183.3(HADHB):c.739C>T (p.Arg247Cys)
|
|
|
NM_000183.3(HADHB):c.747_748del (p.His249fs)
|
|
|
NM_000183.3(HADHB):c.811+82A>G
|
|
|
NM_000183.3(HADHB):c.812-2A>G
|
|
|
NM_000183.3(HADHB):c.881C>G (p.Pro294Arg)
|
rs1558357879
|
|
NM_000183.3(HADHB):c.882dup (p.Ala295fs)
|
|
|
NM_000183.3(HADHB):c.962del (p.Met321fs)
|
|
|
NM_000183.3(HADHB):c.989del (p.Gly330fs)
|
rs2147829909
|
|
NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs)
|
rs2148497926
|
|
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter)
|
rs398123264
|
|
NM_000252.3(MTM1):c.1116del (p.Val373fs)
|
|
|
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)
|
rs587783755
|
|
NM_000252.3(MTM1):c.116del (p.Pro39fs)
|
rs2038979352
|
|
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys)
|
rs132630303
|
|
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)
|
rs781933660
|
|
NM_000252.3(MTM1):c.1260+15C>G
|
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)
|
rs587783772
|
|
NM_000252.3(MTM1):c.1349_1353+4del
|
rs797045715
|
|
NM_000252.3(MTM1):c.1353G>A (p.Gln451=)
|
rs587783781
|
|
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter)
|
rs782234944
|
|
NM_000252.3(MTM1):c.141_144del
|
rs587783791
|
|
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)
|
rs587783792
|
|
NM_000252.3(MTM1):c.1436_1437insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCTGGTACTTTCTT (p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe)
|
|
|
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter)
|
rs2148511944
|
|
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter)
|
rs587783795
|
|
NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter)
|
rs2148511970
|
|
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys)
|
rs1557414802
|
|
NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs)
|
|
|
NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter)
|
rs868972342
|
|
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)
|
rs132630304
|
|
NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)
|
|
|
NM_000252.3(MTM1):c.2T>C (p.Met1Thr)
|
|
|
NM_000252.3(MTM1):c.310G>T (p.Glu104Ter)
|
rs2148456062
|
|
NM_000252.3(MTM1):c.339T>A (p.Cys113Ter)
|
rs147644722
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
NM_000252.3(MTM1):c.431del (p.Leu144fs)
|
rs587783826
|
|
NM_000252.3(MTM1):c.473del (p.Lys158fs)
|
|
|
NM_000252.3(MTM1):c.516del (p.Glu172fs)
|
rs2039803495
|
|
NM_000252.3(MTM1):c.528+1G>A
|
|
|
NM_000252.3(MTM1):c.548G>A (p.Trp183Ter)
|
rs2148488410
|
|
NM_000252.3(MTM1):c.549dup (p.Arg184fs)
|
rs797045719
|
|
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)
|
rs132630302
|
|
NM_000252.3(MTM1):c.590C>T (p.Thr197Ile)
|
rs2148488506
|
|
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)
|
rs587783839
|
|
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)
|
rs587783841
|
|
NM_000252.3(MTM1):c.624del (p.Ser209fs)
|
rs2039846270
|
|
NM_000252.3(MTM1):c.64-2A>G
|
rs1603123976
|
|
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)
|
rs587783847
|
|
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)
|
rs132630306
|
|
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter)
|
rs398123275
|
|
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter)
|
rs2039919698
|
|
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)
|
rs587783854
|
|
NM_000252.3(MTM1):c.804_805del (p.Asn268fs)
|
|
|
NM_000252.3(MTM1):c.819_820dup (p.Leu274fs)
|
rs2148493304
|
|
NM_000252.3(MTM1):c.867+1G>A
|
rs587783858
|
|
NM_000252.3(MTM1):c.867+2T>A
|
|
|
NM_000252.3(MTM1):c.949dup (p.Met317fs)
|
rs797045722
|
|
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer)
|
rs587783865
|
|
NM_000252.3(MTM1):c.969dup (p.Val324fs)
|
rs587783865
|
|
NM_001100.4(ACTA1):c.1006del (p.Glu336fs)
|
|
|
NM_001100.4(ACTA1):c.1049C>T (p.Ser350Leu)
|
rs2102735031
|
|
NM_001100.4(ACTA1):c.1054T>C (p.Ser352Pro)
|
rs1553255301
|
|
NM_001100.4(ACTA1):c.109G>C (p.Val37Leu)
|
rs1553255521
|
|
NM_001100.4(ACTA1):c.109G>T (p.Val37Leu)
|
rs1553255521
|
|
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe)
|
rs1571892196
|
|
NM_001100.4(ACTA1):c.1132T>C (p.Ter378Gln)
|
rs1553255288
|
|
NM_001100.4(ACTA1):c.124C>T (p.His42Tyr)
|
rs2102736554
|
|
NM_001100.4(ACTA1):c.128A>G (p.Gln43Arg)
|
rs1659984269
|
|
NM_001100.4(ACTA1):c.133G>T (p.Val45Phe)
|
rs398123562
|
|
NM_001100.4(ACTA1):c.137T>C (p.Met46Thr)
|
rs1057521120
|
|
NM_001100.4(ACTA1):c.142G>A (p.Gly48Ser)
|
rs794727488
|
|
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)
|
rs367543049
|
|
NM_001100.4(ACTA1):c.143G>T (p.Gly48Val)
|
rs367543049
|
|
NM_001100.4(ACTA1):c.145A>G (p.Met49Val)
|
|
|
NM_001100.4(ACTA1):c.146T>G (p.Met49Arg)
|
rs1553255506
|
|
NM_001100.4(ACTA1):c.155_158del (p.Lys52fs)
|
rs1659979809
|
|
NM_001100.4(ACTA1):c.169G>C (p.Gly57Arg)
|
rs2102736416
|
|
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)
|
rs367543048
|
|
NM_001100.4(ACTA1):c.181C>T (p.Gln61Ter)
|
rs2102736408
|
|
NM_001100.4(ACTA1):c.197T>A (p.Ile66Asn)
|
rs1553255502
|
|
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg)
|
rs1659978909
|
|
NM_001100.4(ACTA1):c.217dup (p.Ile73fs)
|
rs1571893878
|
|
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile)
|
rs1659978452
|
|
NM_001100.4(ACTA1):c.275_277del (p.Phe92del)
|
rs1558082053
|
|
NM_001100.4(ACTA1):c.280A>T (p.Asn94Tyr)
|
|
|
NM_001100.4(ACTA1):c.282C>A (p.Asn94Lys)
|
rs772124885
|
|
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys)
|
rs1571893814
|
|
NM_001100.4(ACTA1):c.338A>G (p.Asn113Ser)
|
|
|
NM_001100.4(ACTA1):c.350A>G (p.Asn117Ser)
|
rs121909520
|
|
NM_001100.4(ACTA1):c.36C>A (p.Cys12Ter)
|
rs1025502215
|
|
NM_001100.4(ACTA1):c.39C>A (p.Asp13Glu)
|
rs1659986880
|
|
NM_001100.4(ACTA1):c.400del (p.Met134fs)
|
rs2102736194
|
|
NM_001100.4(ACTA1):c.414C>G (p.Ile138Met)
|
rs121909526
|
|
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp)
|
rs1435160117
|
|
NM_001100.4(ACTA1):c.419C>G (p.Ala140Gly)
|
rs1435160117
|
|
NM_001100.4(ACTA1):c.425T>C (p.Leu142Pro)
|
rs1553255482
|
|
NM_001100.4(ACTA1):c.427T>C (p.Ser143Pro)
|
rs1659973563
|
|
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)
|
rs371410845
|
|
NM_001100.4(ACTA1):c.449C>G (p.Thr150Ser)
|
rs1553255479
|
|
NM_001100.4(ACTA1):c.461T>C (p.Val154Ala)
|
rs1553255446
|
|
NM_001100.4(ACTA1):c.461_478del (p.Val154_Asp159del)
|
rs1553255444
|
|
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser)
|
rs1064794652
|
|
NM_001100.4(ACTA1):c.493G>A (p.Val165Met)
|
rs121909522
|
|
NM_001100.4(ACTA1):c.49G>A (p.Gly17Ser)
|
rs121909521
|
|
NM_001100.4(ACTA1):c.509G>A (p.Gly170Asp)
|
rs2102735950
|
|
NM_001100.4(ACTA1):c.50G>A (p.Gly17Asp)
|
|
|
NM_001100.4(ACTA1):c.541del (p.Asp181fs)
|
rs759242559
|
|
NM_001100.4(ACTA1):c.553C>T (p.Arg185Cys)
|
rs1064794287
|
|
NM_001100.4(ACTA1):c.557A>G (p.Asp186Gly)
|
rs1571893319
|
|
NM_001100.4(ACTA1):c.591G>T (p.Glu197Asp)
|
rs869312739
|
|
NM_001100.4(ACTA1):c.598T>A (p.Tyr200Asn)
|
rs1553255432
|
|
NM_001100.4(ACTA1):c.599A>G (p.Tyr200Cys)
|
rs2102735854
|
|
NM_001100.4(ACTA1):c.60A>C (p.Lys20Asn)
|
rs1659986226
|
|
NM_001100.4(ACTA1):c.611C>T (p.Thr204Ile)
|
|
|
NM_001100.4(ACTA1):c.616G>A (p.Ala206Thr)
|
rs1057521119
|
|
NM_001100.4(ACTA1):c.617C>T (p.Ala206Val)
|
rs1571893145
|
|
NM_001100.4(ACTA1):c.620A>T (p.Glu207Val)
|
|
|
NM_001100.4(ACTA1):c.660C>A (p.Tyr220Ter)
|
rs201823652
|
|
NM_001100.4(ACTA1):c.676G>C (p.Glu226Gln)
|
rs1057521118
|
|
NM_001100.4(ACTA1):c.682G>C (p.Glu228Gln)
|
rs1558081664
|
|
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter)
|
rs1558081664
|
|
NM_001100.4(ACTA1):c.704C>A (p.Ser235Tyr)
|
rs2102735630
|
|
NM_001100.4(ACTA1):c.712del (p.Leu238fs)
|
rs1211561143
|
|
NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)
|
rs1057521117
|
|
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg)
|
rs1057521117
|
|
NM_001100.4(ACTA1):c.767G>A (p.Arg256His)
|
rs1659954003
|
|
NM_001100.4(ACTA1):c.794A>G (p.Gln265Arg)
|
|
|
NM_001100.4(ACTA1):c.803T>C (p.Phe268Ser)
|
rs1558081605
|
|
NM_001100.4(ACTA1):c.808G>A (p.Gly270Ser)
|
|
|
NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg)
|
rs121909525
|
|
NM_001100.4(ACTA1):c.80A>G (p.Asp27Gly)
|
rs1553255534
|
|
NM_001100.4(ACTA1):c.821C>A (p.Ala274Glu)
|
rs1553255357
|
|
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val)
|
rs1553255357
|
|
NM_001100.4(ACTA1):c.841T>C (p.Tyr281His)
|
rs2102735278
|
|
NM_001100.4(ACTA1):c.842A>G (p.Tyr281Cys)
|
rs1659944113
|
|
NM_001100.4(ACTA1):c.846C>G (p.Asn282Lys)
|
rs2102735270
|
|
NM_001100.4(ACTA1):c.920T>G (p.Met307Arg)
|
|
|
NM_001101362.3(KBTBD13):c.1222C>T (p.Arg408Cys)
|
rs387907090
|
|
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter)
|
rs1553679273
|
|
NM_001164507.2(NEB):c.21375del (p.Arg7126fs)
|
|
|
NM_001164507.2(NEB):c.21406C>T (p.Gln7136Ter)
|
rs2153521056
|
|
NM_001164508.2(NEB):c.10026_10027insTG (p.Lys3343Ter)
|
|
|
NM_001164508.2(NEB):c.1006_1018del (p.Asn336fs)
|
rs2099738446
|
|
NM_001164508.2(NEB):c.10152C>A (p.Tyr3384Ter)
|
|
|
NM_001164508.2(NEB):c.1019_1020insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGG (p.Val341fs)
|
|
|
NM_001164508.2(NEB):c.10411G>T (p.Glu3471Ter)
|
rs866949431
|
|
NM_001164508.2(NEB):c.10433dup (p.Asn3478fs)
|
|
|
NM_001164508.2(NEB):c.10441_10445del (p.Ile3480_Asn3481insTer)
|
|
|
NM_001164508.2(NEB):c.10465C>T (p.Gln3489Ter)
|
|
|
NM_001164508.2(NEB):c.10493del (p.Gly3498fs)
|
rs1574014358
|
|
NM_001164508.2(NEB):c.10497del (p.Gly3498_Tyr3499insTer)
|
rs2154027821
|
|
NM_001164508.2(NEB):c.10545_10552del (p.Asp3516fs)
|
|
|
NM_001164508.2(NEB):c.10598_10610del (p.His3533fs)
|
rs2154022757
|
|
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)
|
rs779909544
|
|
NM_001164508.2(NEB):c.10687A>T (p.Lys3563Ter)
|
rs1207279110
|
|
NM_001164508.2(NEB):c.1068_1096dup (p.Ala366fs)
|
|
|
NM_001164508.2(NEB):c.10798del (p.Leu3600fs)
|
|
|
NM_001164508.2(NEB):c.10809G>A (p.Trp3603Ter)
|
rs10172023
|
|
NM_001164508.2(NEB):c.1083T>A (p.Tyr361Ter)
|
rs2149872738
|
|
NM_001164508.2(NEB):c.10872+1G>A
|
rs1336053002
|
|
NM_001164508.2(NEB):c.10872+1del
|
|
|
NM_001164508.2(NEB):c.10872+2T>A
|
|
|
NM_001164508.2(NEB):c.10916G>A (p.Trp3639Ter)
|
|
|
NM_001164508.2(NEB):c.11010dup (p.Phe3671fs)
|
rs2098273867
|
|
NM_001164508.2(NEB):c.11024dup (p.Asp3676fs)
|
rs1560500587
|
|
NM_001164508.2(NEB):c.11031_11034del (p.Pro3678fs)
|
|
|
NM_001164508.2(NEB):c.11054dup (p.Asn3685fs)
|
rs1560499498
|
|
NM_001164508.2(NEB):c.1109dup (p.Gln371fs)
|
|
|
NM_001164508.2(NEB):c.1111C>T (p.Gln371Ter)
|
|
|
NM_001164508.2(NEB):c.11289delT (p.Tyr3764fs)
|
|
|
NM_001164508.2(NEB):c.11408del (p.Glu3803fs)
|
|
|
NM_001164508.2(NEB):c.11412C>G (p.Tyr3804Ter)
|
|
|
NM_001164508.2(NEB):c.11425G>T (p.Glu3809Ter)
|
rs2098126010
|
|
NM_001164508.2(NEB):c.11432G>A (p.Trp3811Ter)
|
|
|
NM_001164508.2(NEB):c.11473del (p.Val3825fs)
|
rs2153992255
|
|
NM_001164508.2(NEB):c.1152+1G>C
|
rs398124167
|
|
NM_001164508.2(NEB):c.1152+1G>T
|
rs398124167
|
|
NM_001164508.2(NEB):c.11533G>T (p.Glu3845Ter)
|
rs755390933
|
|
NM_001164508.2(NEB):c.1157del (p.Leu386fs)
|
rs2149368742
|
|
NM_001164508.2(NEB):c.11584_11587dup (p.Asp3863delinsValTer)
|
rs2153991555
|
|
NM_001164508.2(NEB):c.11585_11586delinsC (p.Tyr3862fs)
|
rs1553896522
|
|
NM_001164508.2(NEB):c.11610C>A (p.Tyr3870Ter)
|
rs2098013896
|
|
NM_001164508.2(NEB):c.11613del (p.Lys3871fs)
|
rs2098013713
|
|
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter)
|
rs1259297878
|
|
NM_001164508.2(NEB):c.11666del (p.Glu3889fs)
|
|
|
NM_001164508.2(NEB):c.11731C>T (p.Gln3911Ter)
|
|
|
NM_001164508.2(NEB):c.1173T>A (p.Tyr391Ter)
|
|
|
NM_001164508.2(NEB):c.1184_1185dup (p.Ala396fs)
|
rs2149367866
|
|
NM_001164508.2(NEB):c.12074del (p.Ser4025fs)
|
rs2153972237
|
|
NM_001164508.2(NEB):c.1215dup (p.Lys406fs)
|
|
|
NM_001164508.2(NEB):c.12160del (p.Trp4054fs)
|
rs1319778592
|
|
NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)
|
|
|
NM_001164508.2(NEB):c.12166del (p.Thr4056fs)
|
|
|
NM_001164508.2(NEB):c.12182del (p.Pro4061fs)
|
rs2097886912
|
|
NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)
|
|
|
NM_001164508.2(NEB):c.12278dup (p.Asp4094fs)
|
|
|
NM_001164508.2(NEB):c.12356G>A (p.Trp4119Ter)
|
rs2153960793
|
|
NM_001164508.2(NEB):c.12374G>A (p.Trp4125Ter)
|
rs2153960638
|
|
NM_001164508.2(NEB):c.12375del (p.Gly4124_Trp4125insTer)
|
|
|
NM_001164508.2(NEB):c.12394G>T (p.Glu4132Ter)
|
rs2153960539
|
|
NM_001164508.2(NEB):c.12402_12403del (p.Asn4134fs)
|
rs2153960473
|
|
NM_001164508.2(NEB):c.12433G>T (p.Glu4145Ter)
|
rs2097773972
|
|
NM_001164508.2(NEB):c.12438del (p.Arg4146fs)
|
rs2153960110
|
|
NM_001164508.2(NEB):c.12441_12442del (p.Leu4147_Tyr4148insTer)
|
rs2153960091
|
|
NM_001164508.2(NEB):c.12447del (p.Thr4150fs)
|
|
|
NM_001164508.2(NEB):c.12457G>T (p.Glu4153Ter)
|
rs2097773424
|
|
NM_001164508.2(NEB):c.12523C>T (p.Gln4175Ter)
|
rs2153959601
|
|
NM_001164508.2(NEB):c.12554G>A (p.Trp4185Ter)
|
|
|
NM_001164508.2(NEB):c.12555del (p.Ala4184_Trp4185insTer)
|
rs2097759896
|
|
NM_001164508.2(NEB):c.12558_12568del (p.Asn4186fs)
|
|
|
NM_001164508.2(NEB):c.12572del (p.Asn4191fs)
|
|
|
NM_001164508.2(NEB):c.12600_12601del (p.Glu4200fs)
|
|
|
NM_001164508.2(NEB):c.12639+1G>A
|
rs2097758221
|
|
NM_001164508.2(NEB):c.12639+2T>C
|
rs2153957684
|
|
NM_001164508.2(NEB):c.12639dup (p.Lys4214Ter)
|
|
|
NM_001164508.2(NEB):c.12648C>G (p.Tyr4216Ter)
|
rs2097713802
|
|
NM_001164508.2(NEB):c.12659G>A (p.Trp4220Ter)
|
rs2153953739
|
|
NM_001164508.2(NEB):c.12660G>A (p.Trp4220Ter)
|
|
|
NM_001164508.2(NEB):c.12673C>T (p.Gln4225Ter)
|
|
|
NM_001164508.2(NEB):c.12684T>G (p.Tyr4228Ter)
|
rs1553875421
|
|
NM_001164508.2(NEB):c.12709_12710del (p.Ile4237fs)
|
|
|
NM_001164508.2(NEB):c.12733G>T (p.Glu4245Ter)
|
rs2097711830
|
|
NM_001164508.2(NEB):c.12736del (p.Ile4246fs)
|
rs1176407542
|
|
NM_001164508.2(NEB):c.12738del (p.Ile4246fs)
|
rs2097711696
|
|
NM_001164508.2(NEB):c.12767dup (p.Tyr4256Ter)
|
|
|
NM_001164508.2(NEB):c.12782delinsTAACCTTCCACCAAC (p.Gly4261fs)
|
rs2153940785
|
|
NM_001164508.2(NEB):c.12819del (p.Lys4274fs)
|
rs2153940505
|
|
NM_001164508.2(NEB):c.12820A>T (p.Lys4274Ter)
|
|
|
NM_001164508.2(NEB):c.12865del (p.Glu4289fs)
|
rs2153940243
|
|
NM_001164508.2(NEB):c.12870_12871del (p.Tyr4290_Lys4291delinsTer)
|
|
|
NM_001164508.2(NEB):c.12984T>G (p.Tyr4328Ter)
|
|
|
NM_001164508.2(NEB):c.12991C>T (p.Gln4331Ter)
|
rs1326513178
|
|
NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter)
|
rs2153939368
|
|
NM_001164508.2(NEB):c.13068C>A (p.Tyr4356Ter)
|
|
|
NM_001164508.2(NEB):c.13070_13071del (p.Lys4357fs)
|
|
|
NM_001164508.2(NEB):c.1307dup (p.Ser437fs)
|
|
|
NM_001164508.2(NEB):c.13081G>T (p.Glu4361Ter)
|
|
|
NM_001164508.2(NEB):c.13085G>A (p.Trp4362Ter)
|
rs1449776440
|
|
NM_001164508.2(NEB):c.13099G>T (p.Gly4367Ter)
|
rs1278785558
|
|
NM_001164508.2(NEB):c.13103G>A (p.Trp4368Ter)
|
rs2153931339
|
|
NM_001164508.2(NEB):c.13123G>T (p.Glu4375Ter)
|
|
|
NM_001164508.2(NEB):c.13131del (p.Met4377fs)
|
|
|
NM_001164508.2(NEB):c.13132A>T (p.Arg4378Ter)
|
|
|
NM_001164508.2(NEB):c.13142del (p.Asn4381fs)
|
rs2153930968
|
|
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)
|
rs1212374733
|
|
NM_001164508.2(NEB):c.13148del (p.Gln4383fs)
|
|
|
NM_001164508.2(NEB):c.13153_13156del (p.Asn4384_Leu4385insTer)
|
|
|
NM_001164508.2(NEB):c.13157T>A (p.Leu4386Ter)
|
rs2153930856
|
|
NM_001164508.2(NEB):c.13173T>A (p.Tyr4391Ter)
|
rs2153930733
|
|
NM_001164508.2(NEB):c.13186G>T (p.Glu4396Ter)
|
|
|
NM_001164508.2(NEB):c.13220del (p.Pro4407fs)
|
rs2153930361
|
|
NM_001164508.2(NEB):c.13268T>A (p.Leu4423Ter)
|
|
|
NM_001164508.2(NEB):c.13283G>A (p.Trp4428Ter)
|
|
|
NM_001164508.2(NEB):c.13292del (p.Glu4431fs)
|
|
|
NM_001164508.2(NEB):c.13323_13324insGCAATGTGAACGTGCTAATGTGAACGTG (p.Pro4442delinsAlaMetTer)
|
rs2153925252
|
|
NM_001164508.2(NEB):c.13328del (p.Leu4443fs)
|
rs2153925181
|
|
NM_001164508.2(NEB):c.1333del (p.His445fs)
|
rs1576704575
|
|
NM_001164508.2(NEB):c.13341_13362del (p.Lys4448fs)
|
rs2153924986
|
|
NM_001164508.2(NEB):c.13347del (p.Asn4450fs)
|
rs2153925061
|
|
NM_001164508.2(NEB):c.13353_13357delinsTCTGT (p.Gln4453Ter)
|
|
|
NM_001164508.2(NEB):c.13381C>T (p.Gln4461Ter)
|
|
|
NM_001164508.2(NEB):c.13385del (p.Ala4462fs)
|
|
|
NM_001164508.2(NEB):c.13389G>A (p.Trp4463Ter)
|
rs2153924098
|
|
NM_001164508.2(NEB):c.13399A>T (p.Lys4467Ter)
|
|
|
NM_001164508.2(NEB):c.133_146del (p.Ser45fs)
|
rs1321522421
|
|
NM_001164508.2(NEB):c.13407_13416del (p.Gly4470fs)
|
rs2153923895
|
|
NM_001164508.2(NEB):c.13411dup (p.Tyr4471fs)
|
|
|
NM_001164508.2(NEB):c.13413T>A (p.Tyr4471Ter)
|
|
|
NM_001164508.2(NEB):c.13417del (p.Leu4473fs)
|
rs2153923874
|
|
NM_001164508.2(NEB):c.13420C>T (p.Arg4474Ter)
|
rs1578869371
|
|
NM_001164508.2(NEB):c.13437del (p.Ile4480fs)
|
|
|
NM_001164508.2(NEB):c.13441C>T (p.Gln4481Ter)
|
rs2097548467
|
|
NM_001164508.2(NEB):c.13504C>T (p.Gln4502Ter)
|
rs2153903589
|
|
NM_001164508.2(NEB):c.13507_13510del (p.Lys4503fs)
|
|
|
NM_001164508.2(NEB):c.13509del (p.Gly4504fs)
|
rs2153903564
|
|
NM_001164508.2(NEB):c.13525del (p.Cys4509fs)
|
rs2097453337
|
|
NM_001164508.2(NEB):c.13537A>T (p.Lys4513Ter)
|
rs2097452910
|
|
NM_001164508.2(NEB):c.13551dup (p.Leu4518fs)
|
|
|
NM_001164508.2(NEB):c.13560G>A (p.Trp4520Ter)
|
|
|
NM_001164508.2(NEB):c.13593del (p.Arg4531fs)
|
rs2153903290
|
|
NM_001164508.2(NEB):c.13599C>G (p.Tyr4533Ter)
|
rs2153903239
|
|
NM_001164508.2(NEB):c.13631_13634dup (p.Ile4546fs)
|
rs2153903111
|
|
NM_001164508.2(NEB):c.13704T>A (p.Tyr4568Ter)
|
rs1553862274
|
|
NM_001164508.2(NEB):c.13704T>G (p.Tyr4568Ter)
|
|
|
NM_001164508.2(NEB):c.13713C>A (p.Tyr4571Ter)
|
|
|
NM_001164508.2(NEB):c.13734del (p.Asp4580fs)
|
|
|
NM_001164508.2(NEB):c.1374C>G (p.Tyr458Ter)
|
|
|
NM_001164508.2(NEB):c.13751_13752dup (p.Ile4585Ter)
|
rs2153902749
|
|
NM_001164508.2(NEB):c.13756C>T (p.Gln4586Ter)
|
rs1560283028
|
|
NM_001164508.2(NEB):c.13761del (p.Arg4588fs)
|
|
|
NM_001164508.2(NEB):c.13773C>A (p.Tyr4591Ter)
|
rs1553862114
|
|
NM_001164508.2(NEB):c.13777del (p.Leu4593fs)
|
|
|
NM_001164508.2(NEB):c.13780C>T (p.Gln4594Ter)
|
rs2097449114
|
|
NM_001164508.2(NEB):c.13788+1G>A
|
rs1553862061
|
|
NM_001164508.2(NEB):c.13788+1G>C
|
rs1553862061
|
|
NM_001164508.2(NEB):c.1417C>T (p.Gln473Ter)
|
|
|
NM_001164508.2(NEB):c.1459C>T (p.Gln487Ter)
|
|
|
NM_001164508.2(NEB):c.1470+1G>C
|
rs1220787593
|
|
NM_001164508.2(NEB):c.1526del (p.Pro509fs)
|
rs1181351466
|
|
NM_001164508.2(NEB):c.1529_1533del (p.Val510fs)
|
rs2099599008
|
|
NM_001164508.2(NEB):c.1537C>T (p.Gln513Ter)
|
rs1171781332
|
|
NM_001164508.2(NEB):c.1555A>T (p.Lys519Ter)
|
|
|
NM_001164508.2(NEB):c.1558C>T (p.Gln520Ter)
|
rs757999917
|
|
NM_001164508.2(NEB):c.1568dup (p.Asp523fs)
|
|
|
NM_001164508.2(NEB):c.1605del (p.Phe535fs)
|
|
|
NM_001164508.2(NEB):c.1623del (p.Asp542fs)
|
rs772366030
|
|
NM_001164508.2(NEB):c.1649_1650del (p.Lys550fs)
|
|
|
NM_001164508.2(NEB):c.1659_1662dup (p.Asn555delinsLeuTer)
|
|
|
NM_001164508.2(NEB):c.16707_16710dup (p.Tyr5571fs)
|
rs2153808894
|
|
NM_001164508.2(NEB):c.1674+1G>A
|
rs750585238
|
|
NM_001164508.2(NEB):c.1674+2T>C
|
rs1553603437
|
|
NM_001164508.2(NEB):c.1674+2T>G
|
|
|
NM_001164508.2(NEB):c.1676del (p.Asn559fs)
|
rs1576600442
|
|
NM_001164508.2(NEB):c.16779del (p.Val5594fs)
|
|
|
NM_001164508.2(NEB):c.16803_16804del (p.Phe5601fs)
|
rs2153808479
|
|
NM_001164508.2(NEB):c.17019_17020del (p.Tyr5674fs)
|
|
|
NM_001164508.2(NEB):c.17091_17094dup (p.Ala5699fs)
|
|
|
NM_001164508.2(NEB):c.17101dup (p.Arg5701fs)
|
|
|
NM_001164508.2(NEB):c.17196_17200del (p.Ile5732fs)
|
rs1578011278
|
|
NM_001164508.2(NEB):c.17224C>T (p.Gln5742Ter)
|
rs2153755942
|
|
NM_001164508.2(NEB):c.17233C>T (p.Arg5745Ter)
|
rs1427371913
|
|
NM_001164508.2(NEB):c.17242del (p.Arg5748fs)
|
|
|
NM_001164508.2(NEB):c.17310del (p.Asn5772fs)
|
|
|
NM_001164508.2(NEB):c.1732del (p.Asp578fs)
|
|
|
NM_001164508.2(NEB):c.17355C>A (p.Tyr5785Ter)
|
|
|
NM_001164508.2(NEB):c.17373C>A (p.Cys5791Ter)
|
rs2153752710
|
|
NM_001164508.2(NEB):c.17415C>A (p.Tyr5805Ter)
|
rs555516831
|
|
NM_001164508.2(NEB):c.17423_17427del (p.Gln5808fs)
|
|
|
NM_001164508.2(NEB):c.17430dup (p.Asn5811Ter)
|
|
|
NM_001164508.2(NEB):c.17541dup (p.Tyr5848fs)
|
rs886043631
|
|
NM_001164508.2(NEB):c.17586_17587del (p.Asp5862fs)
|
|
|
NM_001164508.2(NEB):c.175C>T (p.Gln59Ter)
|
rs867732907
|
|
NM_001164508.2(NEB):c.17653_17654del (p.Trp5885fs)
|
rs2096504394
|
|
NM_001164508.2(NEB):c.17654G>A (p.Trp5885Ter)
|
rs1340834766
|
|
NM_001164508.2(NEB):c.17695dup (p.Leu5899fs)
|
rs2096502530
|
|
NM_001164508.2(NEB):c.17734del (p.Gln5912fs)
|
rs2096501278
|
|
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)
|
|
|
NM_001164508.2(NEB):c.17781del (p.Gly5926_Tyr5927insTer)
|
rs2096491549
|
|
NM_001164508.2(NEB):c.17828del (p.Asn5943fs)
|
rs1560031341
|
|
NM_001164508.2(NEB):c.17845-1G>A
|
rs1371849916
|
|
NM_001164508.2(NEB):c.17845-1G>C
|
rs1371849916
|
|
NM_001164508.2(NEB):c.17845-2A>T
|
rs1177405905
|
|
NM_001164508.2(NEB):c.17856del (p.Ala5953fs)
|
|
|
NM_001164508.2(NEB):c.17928G>A (p.Trp5976Ter)
|
|
|
NM_001164508.2(NEB):c.17944C>T (p.Gln5982Ter)
|
|
|
NM_001164508.2(NEB):c.17986del (p.Thr5996fs)
|
rs1577890764
|
|
NM_001164508.2(NEB):c.17989A>T (p.Lys5997Ter)
|
rs2153739384
|
|
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs)
|
rs748358450
|
|
NM_001164508.2(NEB):c.18040C>T (p.Gln6014Ter)
|
rs2153739049
|
|
NM_001164508.2(NEB):c.18081_18089del (p.Tyr6027_Gln6030delinsTer)
|
|
|
NM_001164508.2(NEB):c.1811del (p.Asn604fs)
|
|
|
NM_001164508.2(NEB):c.18124C>T (p.Gln6042Ter)
|
rs1577886635
|
|
NM_001164508.2(NEB):c.18165C>A (p.Tyr6055Ter)
|
|
|
NM_001164508.2(NEB):c.18183G>A (p.Trp6061Ter)
|
|
|
NM_001164508.2(NEB):c.18187C>T (p.Arg6063Ter)
|
|
|
NM_001164508.2(NEB):c.18211del (p.Asp6071fs)
|
rs997878946
|
|
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
|
|
|
NM_001164508.2(NEB):c.18270T>A (p.Tyr6090Ter)
|
rs2153729960
|
|
NM_001164508.2(NEB):c.18358C>T (p.Gln6120Ter)
|
|
|
NM_001164508.2(NEB):c.18415dup (p.Ser6139fs)
|
|
|
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs)
|
rs747282057
|
|
NM_001164508.2(NEB):c.18594del (p.Thr6199fs)
|
|
|
NM_001164508.2(NEB):c.18714T>G (p.Tyr6238Ter)
|
rs2153712099
|
|
NM_001164508.2(NEB):c.18781C>T (p.Gln6261Ter)
|
|
|
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter)
|
rs754369875
|
|
NM_001164508.2(NEB):c.18828G>A (p.Trp6276Ter)
|
rs2153711477
|
|
NM_001164508.2(NEB):c.18955C>T (p.Gln6319Ter)
|
|
|
NM_001164508.2(NEB):c.18981C>A (p.Tyr6327Ter)
|
rs761964375
|
|
NM_001164508.2(NEB):c.19000C>T (p.Gln6334Ter)
|
|
|
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter)
|
rs1559940778
|
|
NM_001164508.2(NEB):c.19036_19057del (p.Tyr6346fs)
|
|
|
NM_001164508.2(NEB):c.1905C>G (p.Tyr635Ter)
|
|
|
NM_001164508.2(NEB):c.19078C>T (p.Gln6360Ter)
|
rs2153703181
|
|
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile)
|
rs191579691
|
|
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)
|
rs2153702280
|
|
NM_001164508.2(NEB):c.1920_1921delinsTT (p.Glu640_Lys641delinsAspTer)
|
|
|
NM_001164508.2(NEB):c.19214dup (p.Tyr6405Ter)
|
|
|
NM_001164508.2(NEB):c.19283_19284del (p.His6428fs)
|
|
|
NM_001164508.2(NEB):c.19294C>T (p.Gln6432Ter)
|
rs2153700128
|
|
NM_001164508.2(NEB):c.1933_1934del (p.Lys645fs)
|
rs2149172715
|
|
NM_001164508.2(NEB):c.19384_19387del (p.Pro6462fs)
|
|
|
NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter)
|
|
|
NM_001164508.2(NEB):c.19575del (p.Asp6526fs)
|
|
|
NM_001164508.2(NEB):c.19621del (p.Ser6541fs)
|
rs2153659861
|
|
NM_001164508.2(NEB):c.19635C>A (p.Tyr6545Ter)
|
rs1335300113
|
|
NM_001164508.2(NEB):c.19635C>G (p.Tyr6545Ter)
|
rs1335300113
|
|
NM_001164508.2(NEB):c.19653G>A (p.Trp6551Ter)
|
rs2153657682
|
|
NM_001164508.2(NEB):c.19711_19714del (p.Ala6571fs)
|
rs1577244250
|
|
NM_001164508.2(NEB):c.19813A>T (p.Lys6605Ter)
|
|
|
NM_001164508.2(NEB):c.19851T>A (p.Tyr6617Ter)
|
rs2095359371
|
|
NM_001164508.2(NEB):c.19897del (p.Thr6633fs)
|
rs2153647734
|
|
NM_001164508.2(NEB):c.19904_19914del (p.Asp6635fs)
|
|
|
NM_001164508.2(NEB):c.19915del (p.Ala6639fs)
|
rs2153647595
|
|
NM_001164508.2(NEB):c.19929C>G (p.Tyr6643Ter)
|
rs1440532058
|
|
NM_001164508.2(NEB):c.19936C>T (p.Gln6646Ter)
|
|
|
NM_001164508.2(NEB):c.19959del (p.Ser6654fs)
|
|
|
NM_001164508.2(NEB):c.19988del (p.Arg6663fs)
|
|
|
NM_001164508.2(NEB):c.20213dup (p.Asp6738fs)
|
|
|
NM_001164508.2(NEB):c.20225_20226del (p.Ile6742fs)
|
rs2153617810
|
|
NM_001164508.2(NEB):c.20253del (p.Val6752fs)
|
|
|
NM_001164508.2(NEB):c.20281_20282dup (p.Phe6762fs)
|
rs2094863263
|
|
NM_001164508.2(NEB):c.20311_20312del (p.Leu6771fs)
|
|
|
NM_001164508.2(NEB):c.20326del (p.Gln6776fs)
|
rs2153615926
|
|
NM_001164508.2(NEB):c.20360_20361insA (p.Ser6788fs)
|
rs2153615795
|
|
NM_001164508.2(NEB):c.20441_20442del (p.Arg6814fs)
|
|
|
NM_001164508.2(NEB):c.20446_20447del (p.Arg6816fs)
|
|
|
NM_001164508.2(NEB):c.20446dup (p.Arg6816fs)
|
rs1559767662
|
|
NM_001164508.2(NEB):c.20466+2T>A
|
|
|
NM_001164508.2(NEB):c.20536G>T (p.Glu6846Ter)
|
|
|
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter)
|
rs777819332
|
|
NM_001164508.2(NEB):c.20633del (p.Asp6878fs)
|
rs2094062438
|
|
NM_001164508.2(NEB):c.20644_20645dup (p.Leu6883fs)
|
rs2153574857
|
|
NM_001164508.2(NEB):c.2065dup (p.Tyr689fs)
|
rs1576517390
|
|
NM_001164508.2(NEB):c.20674_20675del (p.Gln6892fs)
|
rs2153574675
|
|
NM_001164508.2(NEB):c.2075_2076del (p.His692fs)
|
rs2149163148
|
|
NM_001164508.2(NEB):c.20791A>T (p.Lys6931Ter)
|
|
|
NM_001164508.2(NEB):c.20792dup (p.Tyr6932fs)
|
|
|
NM_001164508.2(NEB):c.20845dup (p.Thr6949fs)
|
rs1553695209
|
|
NM_001164508.2(NEB):c.20918del (p.Lys6973fs)
|
|
|
NM_001164508.2(NEB):c.20934C>A (p.Tyr6978Ter)
|
rs2153554020
|
|
NM_001164508.2(NEB):c.20974A>T (p.Lys6992Ter)
|
|
|
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs)
|
rs1559680233
|
|
NM_001164508.2(NEB):c.20992dup (p.Ser6998fs)
|
rs2153553633
|
|
NM_001164508.2(NEB):c.20995A>T (p.Lys6999Ter)
|
rs2153553617
|
|
NM_001164508.2(NEB):c.21052del (p.Asp7018fs)
|
rs1576695735
|
|
NM_001164508.2(NEB):c.21070del (p.His7024fs)
|
|
|
NM_001164508.2(NEB):c.21092_21093del (p.Thr7031fs)
|
|
|
NM_001164508.2(NEB):c.21108del (p.Lys7036fs)
|
|
|
NM_001164508.2(NEB):c.21111T>A (p.Tyr7037Ter)
|
|
|
NM_001164508.2(NEB):c.21124_21128del (p.Thr7042fs)
|
|
|
NM_001164508.2(NEB):c.21198_21199del (p.Tyr7067fs)
|
rs2093334853
|
|
NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)
|
|
|
NM_001164508.2(NEB):c.21230_21231insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAGTATTTGA (p.Glu7077_Arg7078insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_001164508.2(NEB):c.21299_21302del (p.Gln7100fs)
|
|
|
NM_001164508.2(NEB):c.21318del (p.Lys7106fs)
|
rs2092318339
|
|
NM_001164508.2(NEB):c.21405dup (p.Met7136fs)
|
rs2153515167
|
|
NM_001164508.2(NEB):c.21426C>A (p.Tyr7142Ter)
|
rs2091275452
|
|
NM_001164508.2(NEB):c.21500_21501del (p.Lys7167fs)
|
|
|
NM_001164508.2(NEB):c.21628_21630+2del
|
rs2153489310
|
|
NM_001164508.2(NEB):c.21711_21712dup (p.Asp7238fs)
|
rs1559580467
|
|
NM_001164508.2(NEB):c.21751C>T (p.Gln7251Ter)
|
rs373946758
|
|
NM_001164508.2(NEB):c.21793del (p.Arg7265fs)
|
|
|
NM_001164508.2(NEB):c.21885_21888del (p.Val7297fs)
|
|
|
NM_001164508.2(NEB):c.21887_21888del (p.Ser7296fs)
|
|
|
NM_001164508.2(NEB):c.21933_21934insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAATACTTTA (p.Ile7312delinsPhePhePhePhePhePheXaaXaaXaaXaaValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
NM_001164508.2(NEB):c.21960dup (p.Lys7321fs)
|
|
|
NM_001164508.2(NEB):c.2200C>T (p.Gln734Ter)
|
rs780299519
|
|
NM_001164508.2(NEB):c.22016del (p.Leu7339fs)
|
rs2153453450
|
|
NM_001164508.2(NEB):c.22030_22031del (p.Val7344fs)
|
|
|
NM_001164508.2(NEB):c.22044_22045del (p.Val7348_Ser7349insTer)
|
rs2153453236
|
|
NM_001164508.2(NEB):c.2211+5G>A
|
rs797045736
|
|
NM_001164508.2(NEB):c.2212-1G>A
|
rs2149103521
|
|
NM_001164508.2(NEB):c.22138del (p.Glu7380fs)
|
rs1235589246
|
|
NM_001164508.2(NEB):c.22175del (p.Lys7392fs)
|
rs2153447885
|
|
NM_001164508.2(NEB):c.22220del (p.Leu7407fs)
|
|
|
NM_001164508.2(NEB):c.22229del (p.Pro7410fs)
|
|
|
NM_001164508.2(NEB):c.22256_22257delinsG (p.Ala7419fs)
|
rs1559534672
|
|
NM_001164508.2(NEB):c.22276del (p.Ala7426fs)
|
|
|
NM_001164508.2(NEB):c.22312_22315dup (p.Thr7439fs)
|
rs2084217268
|
|
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter)
|
rs1576203853
|
|
NM_001164508.2(NEB):c.22333_22339del (p.Asp7445fs)
|
|
|
NM_001164508.2(NEB):c.22351C>T (p.Gln7451Ter)
|
|
|
NM_001164508.2(NEB):c.22418dup (p.Leu7473fs)
|
rs2084059565
|
|
NM_001164508.2(NEB):c.22477C>T (p.Gln7493Ter)
|
|
|
NM_001164508.2(NEB):c.22511del (p.Lys7504fs)
|
rs2080623161
|
|
NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)
|
|
|
NM_001164508.2(NEB):c.22641del (p.Met7547fs)
|
rs1057515573
|
|
NM_001164508.2(NEB):c.22645G>T (p.Glu7549Ter)
|
rs2080077889
|
|
NM_001164508.2(NEB):c.22651_22652del (p.Leu7551fs)
|
rs2153386052
|
|
NM_001164508.2(NEB):c.22652del (p.Leu7551fs)
|
|
|
NM_001164508.2(NEB):c.22708A>T (p.Lys7570Ter)
|
|
|
NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)
|
|
|
NM_001164508.2(NEB):c.22728dup (p.Gly7577fs)
|
|
|
NM_001164508.2(NEB):c.22776dup (p.Glu7593fs)
|
rs2079459982
|
|
NM_001164508.2(NEB):c.22792C>T (p.Gln7598Ter)
|
rs752267876
|
|
NM_001164508.2(NEB):c.22792_22793del (p.Gln7598fs)
|
|
|
NM_001164508.2(NEB):c.22812del (p.Glu7605fs)
|
rs2153355216
|
|
NM_001164508.2(NEB):c.22813G>T (p.Glu7605Ter)
|
rs767967099
|
|
NM_001164508.2(NEB):c.22814_22818del (p.Glu7605fs)
|
|
|
NM_001164508.2(NEB):c.22905+1del
|
rs771740564
|
|
NM_001164508.2(NEB):c.22914T>A (p.Tyr7638Ter)
|
|
|
NM_001164508.2(NEB):c.22931del (p.Glu7644fs)
|
|
|
NM_001164508.2(NEB):c.22966del (p.Val7656fs)
|
rs2153320686
|
|
NM_001164508.2(NEB):c.23060del (p.Gly7687fs)
|
|
|
NM_001164508.2(NEB):c.23134_23144del (p.Tyr7712fs)
|
rs2153276539
|
|
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)
|
rs1575714905
|
|
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
|
|
|
NM_001164508.2(NEB):c.23175dup (p.Asn7726fs)
|
|
|
NM_001164508.2(NEB):c.2320A>T (p.Lys774Ter)
|
|
|
NM_001164508.2(NEB):c.23283del (p.Phe7761fs)
|
|
|
NM_001164508.2(NEB):c.23320C>T (p.Gln7774Ter)
|
|
|
NM_001164508.2(NEB):c.23344C>T (p.Gln7782Ter)
|
rs2153272667
|
|
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs)
|
rs1559360386
|
|
NM_001164508.2(NEB):c.23378del (p.Met7793fs)
|
rs1553603690
|
|
NM_001164508.2(NEB):c.23385T>G (p.Tyr7795Ter)
|
rs2153218155
|
|
NM_001164508.2(NEB):c.23387del (p.Tyr7796fs)
|
|
|
NM_001164508.2(NEB):c.23449dup (p.Leu7817fs)
|
|
|
NM_001164508.2(NEB):c.23461C>T (p.Gln7821Ter)
|
|
|
NM_001164508.2(NEB):c.23476_23479dup (p.Ser7827fs)
|
|
|
NM_001164508.2(NEB):c.23495_23496del (p.Thr7832fs)
|
|
|
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs)
|
rs762780413
|
|
NM_001164508.2(NEB):c.23498_23499insA (p.Val7834fs)
|
|
|
NM_001164508.2(NEB):c.23500_23501del (p.Val7834fs)
|
|
|
NM_001164508.2(NEB):c.23505del (p.Asp7836fs)
|
rs2153196376
|
|
NM_001164508.2(NEB):c.23539C>T (p.Gln7847Ter)
|
|
|
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter)
|
rs537560378
|
|
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs)
|
rs1161478770
|
|
NM_001164508.2(NEB):c.23660del (p.Lys7887fs)
|
|
|
NM_001164508.2(NEB):c.23711del (p.Arg7904fs)
|
|
|
NM_001164508.2(NEB):c.23746_23747dup (p.Met7916fs)
|
rs2153115303
|
|
NM_001164508.2(NEB):c.23786_23787del (p.Val7929fs)
|
|
|
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs)
|
rs756612643
|
|
NM_001164508.2(NEB):c.23803_23806del (p.Arg7935fs)
|
|
|
NM_001164508.2(NEB):c.23805_23806del (p.Arg7935fs)
|
rs753192734
|
|
NM_001164508.2(NEB):c.23848_23851dup (p.Asn7951fs)
|
rs1559296376
|
|
NM_001164508.2(NEB):c.23869_23870delinsTA (p.Pro7957Ter)
|
|
|
NM_001164508.2(NEB):c.23878_23881dup (p.Thr7961fs)
|
|
|
NM_001164508.2(NEB):c.23896_23899del (p.Arg7966fs)
|
rs2153102752
|
|
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs)
|
rs761694639
|
|
NM_001164508.2(NEB):c.23937C>A (p.Tyr7979Ter)
|
|
|
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter)
|
rs779173742
|
|
NM_001164508.2(NEB):c.23939_23942dup (p.Asn7982fs)
|
rs2153073575
|
|
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)
|
rs756384471
|
|
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs)
|
rs2064466448
|
|
NM_001164508.2(NEB):c.23971_23974dup (p.Thr7992fs)
|
|
|
NM_001164508.2(NEB):c.23998_24001del (p.Leu8000fs)
|
rs748550315
|
|
NM_001164508.2(NEB):c.23998_24001dup (p.Asn8001fs)
|
rs748550315
|
|
NM_001164508.2(NEB):c.23998_24002dup (p.Gln8002fs)
|
rs2064439011
|
|
NM_001164508.2(NEB):c.24003_24006dup (p.Glu8003fs)
|
rs1553568447
|
|
NM_001164508.2(NEB):c.24004C>T (p.Gln8002Ter)
|
rs2153072192
|
|
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs)
|
rs1553568357
|
|
NM_001164508.2(NEB):c.24020C>A (p.Ser8007Ter)
|
|
|
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)
|
rs772009599
|
|
NM_001164508.2(NEB):c.24038del (p.Asn8013fs)
|
|
|
NM_001164508.2(NEB):c.24046A>T (p.Lys8016Ter)
|
|
|
NM_001164508.2(NEB):c.24072dup (p.Glu8025fs)
|
|
|
NM_001164508.2(NEB):c.24077_24084del (p.Met8026fs)
|
rs2153021199
|
|
NM_001164508.2(NEB):c.24084_24085del (p.Arg8028fs)
|
|
|
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)
|
rs2153020985
|
|
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs)
|
rs1553561211
|
|
NM_001164508.2(NEB):c.24130_24131insGC (p.Asn8044fs)
|
|
|
NM_001164508.2(NEB):c.24143del (p.Gly8048fs)
|
rs1553556154
|
|
NM_001164508.2(NEB):c.2415+1G>A
|
rs1057524581
|
|
NM_001164508.2(NEB):c.24175_24178dup (p.Val8060fs)
|
rs1266535163
|
|
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs)
|
rs2061721973
|
|
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)
|
rs1266535163
|
|
NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs)
|
rs2152991690
|
|
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)
|
rs1553555882
|
|
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)
|
rs1553552384
|
|
NM_001164508.2(NEB):c.24245T>A (p.Leu8082Ter)
|
rs1559218052
|
|
NM_001164508.2(NEB):c.2425A>T (p.Lys809Ter)
|
|
|
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs)
|
rs747564597
|
|
NM_001164508.2(NEB):c.24271_24274dup (p.Lys8092fs)
|
rs1559217202
|
|
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs)
|
rs1553551748
|
|
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
|
|
|
NM_001164508.2(NEB):c.24286del (p.Glu8096fs)
|
|
|
NM_001164508.2(NEB):c.2428C>T (p.Gln810Ter)
|
|
|
NM_001164508.2(NEB):c.24291_24294dup (p.Ser8099delinsTyrTer)
|
rs2061157682
|
|
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.24329_24332dup (p.Pro8112fs)
|
rs1574981296
|
|
NM_001164508.2(NEB):c.24335_24338dup (p.Pro8114fs)
|
|
|
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)
|
rs934111355
|
|
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
|
|
|
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)
|
rs752582527
|
|
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs)
|
rs1553548207
|
|
NM_001164508.2(NEB):c.24376C>T (p.Gln8126Ter)
|
|
|
NM_001164508.2(NEB):c.24376_24377insCC (p.Gln8126fs)
|
rs2152954992
|
|
NM_001164508.2(NEB):c.24397_24398dup (p.Leu8133fs)
|
rs1553545126
|
|
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)
|
rs763364977
|
|
NM_001164508.2(NEB):c.24461_24464dup (p.His8155fs)
|
rs2152937269
|
|
NM_001164508.2(NEB):c.24469C>T (p.Gln8157Ter)
|
|
|
NM_001164508.2(NEB):c.24503dup (p.Asn8168fs)
|
rs2152876577
|
|
NM_001164508.2(NEB):c.24510dup (p.Lys8171fs)
|
|
|
NM_001164508.2(NEB):c.24517_24518dup (p.Ala8174fs)
|
rs2152876293
|
|
NM_001164508.2(NEB):c.24546del (p.Arg8183fs)
|
|
|
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)
|
rs755863625
|
|
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)
|
rs1553537512
|
|
NM_001164508.2(NEB):c.24575dup (p.Ser8192fs)
|
rs2152874815
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.24615_24616insCA (p.Thr8206fs)
|
|
|
NM_001164508.2(NEB):c.24617del (p.Thr8206fs)
|
rs2152863770
|
|
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)
|
rs1357811155
|
|
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)
|
rs794727136
|
|
NM_001164508.2(NEB):c.24667dup (p.Ser8223fs)
|
|
|
NM_001164508.2(NEB):c.24672+1del
|
rs2152861881
|
|
NM_001164508.2(NEB):c.24683_24684del (p.Lys8228fs)
|
|
|
NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs)
|
rs761067911
|
|
NM_001164508.2(NEB):c.24710dup (p.Pro8238fs)
|
|
|
NM_001164508.2(NEB):c.24722_24723del (p.Pro8241fs)
|
|
|
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)
|
rs776059611
|
|
NM_001164508.2(NEB):c.24798del (p.Gln8267fs)
|
|
|
NM_001164508.2(NEB):c.24816T>G (p.Tyr8272Ter)
|
rs1265163979
|
|
NM_001164508.2(NEB):c.24968_24969insG (p.Asp8323fs)
|
|
|
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)
|
rs767709270
|
|
NM_001164508.2(NEB):c.24994_24995dup (p.Gln8333fs)
|
|
|
NM_001164508.2(NEB):c.2499del (p.Ala834fs)
|
rs1553564693
|
|
NM_001164508.2(NEB):c.25003A>T (p.Lys8335Ter)
|
rs2152821411
|
|
NM_001164508.2(NEB):c.25088C>A (p.Ser8363Ter)
|
|
|
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter)
|
rs777232352
|
|
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter)
|
rs760200697
|
|
NM_001164508.2(NEB):c.25165del (p.Arg8389fs)
|
|
|
NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter)
|
rs2055484249
|
|
NM_001164508.2(NEB):c.25209dup (p.Gly8404fs)
|
rs2152777457
|
|
NM_001164508.2(NEB):c.25259C>A (p.Ser8420Ter)
|
rs949111967
|
|
NM_001164508.2(NEB):c.25333C>T (p.Gln8445Ter)
|
rs2152763931
|
|
NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter)
|
rs2152620357
|
|
NM_001164508.2(NEB):c.2566_2569del (p.Ile856fs)
|
rs2148949901
|
|
NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter)
|
rs1333519240
|
|
NM_001164508.2(NEB):c.2658T>G (p.Tyr886Ter)
|
|
|
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter)
|
rs1553558398
|
|
NM_001164508.2(NEB):c.2675_2678del (p.Ile892fs)
|
rs2148844303
|
|
NM_001164508.2(NEB):c.2778C>A (p.Tyr926Ter)
|
rs1576286971
|
|
NM_001164508.2(NEB):c.2783del (p.Pro928fs)
|
|
|
NM_001164508.2(NEB):c.2880_2883del (p.Trp961fs)
|
rs2148735901
|
|
NM_001164508.2(NEB):c.288del (p.Phe96fs)
|
rs2150918170
|
|
NM_001164508.2(NEB):c.2921_2924del (p.Arg974fs)
|
|
|
NM_001164508.2(NEB):c.2943G>A (p.Glu981=)
|
rs398124170
|
|
NM_001164508.2(NEB):c.2951dup (p.Tyr984Ter)
|
|
|
NM_001164508.2(NEB):c.3025C>T (p.Gln1009Ter)
|
|
|
NM_001164508.2(NEB):c.3084C>G (p.Tyr1028Ter)
|
rs2099402392
|
|
NM_001164508.2(NEB):c.3096del (p.Asp1033fs)
|
|
|
NM_001164508.2(NEB):c.3255+1G>C
|
rs375628303
|
|
NM_001164508.2(NEB):c.3255+1G>T
|
rs375628303
|
|
NM_001164508.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer)
|
rs2099386637
|
|
NM_001164508.2(NEB):c.3270del (p.Asp1091fs)
|
rs2099386610
|
|
NM_001164508.2(NEB):c.3270dup (p.Asp1091fs)
|
|
|
NM_001164508.2(NEB):c.331C>T (p.Gln111Ter)
|
|
|
NM_001164508.2(NEB):c.3342T>A (p.Tyr1114Ter)
|
|
|
NM_001164508.2(NEB):c.3373G>T (p.Glu1125Ter)
|
|
|
NM_001164508.2(NEB):c.3384del (p.Asp1129fs)
|
rs2099386045
|
|
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)
|
|
|
NM_001164508.2(NEB):c.3394_3395insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGACTATGAGA (p.Lys1132delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysArgLeuTer)
|
|
|
NM_001164508.2(NEB):c.3400_3401del (p.Lys1134fs)
|
rs2148495720
|
|
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs)
|
rs1463906422
|
|
NM_001164508.2(NEB):c.3553C>T (p.Gln1185Ter)
|
|
|
NM_001164508.2(NEB):c.3562_3563del (p.Gln1187_Ser1188insTer)
|
rs2154210386
|
|
NM_001164508.2(NEB):c.3567+1G>A
|
rs587780399
|
|
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter)
|
rs748453057
|
|
NM_001164508.2(NEB):c.3648del (p.Lys1218fs)
|
|
|
NM_001164508.2(NEB):c.3649A>T (p.Lys1217Ter)
|
|
|
NM_001164508.2(NEB):c.3653del (p.Lys1218fs)
|
|
|
NM_001164508.2(NEB):c.3664del (p.Ala1222fs)
|
|
|
NM_001164508.2(NEB):c.3691del (p.His1231fs)
|
|
|
NM_001164508.2(NEB):c.3731del (p.Pro1244fs)
|
rs2154209597
|
|
NM_001164508.2(NEB):c.3843del (p.Leu1282fs)
|
rs2154199737
|
|
NM_001164508.2(NEB):c.3858C>A (p.Cys1286Ter)
|
rs1386238241
|
|
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly)
|
rs1553521537
|
|
NM_001164508.2(NEB):c.3879+2T>C
|
rs2099350888
|
|
NM_001164508.2(NEB):c.3880-2A>G
|
rs1342507012
|
|
NM_001164508.2(NEB):c.3889A>T (p.Lys1297Ter)
|
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG
|
rs786204576
|
|
NM_001164508.2(NEB):c.3996C>G (p.Tyr1332Ter)
|
rs1559093497
|
|
NM_001164508.2(NEB):c.39C>G (p.Tyr13Ter)
|
|
|
NM_001164508.2(NEB):c.4069del (p.His1357fs)
|
|
|
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360
|
|
NM_001164508.2(NEB):c.4132A>T (p.Lys1378Ter)
|
rs2154193668
|
|
NM_001164508.2(NEB):c.413del (p.Arg138fs)
|
|
|
NM_001164508.2(NEB):c.4151_4152insAGGAACACCAAAACCAGCTACCATACCCC (p.Asp1386fs)
|
|
|
NM_001164508.2(NEB):c.4347G>A (p.Trp1449Ter)
|
rs2154190685
|
|
NM_001164508.2(NEB):c.4417C>T (p.Arg1473Ter)
|
rs2099279723
|
|
NM_001164508.2(NEB):c.445del (p.His149fs)
|
rs2150762300
|
|
NM_001164508.2(NEB):c.4485dup (p.Asn1496Ter)
|
rs2154190331
|
|
NM_001164508.2(NEB):c.4535_4536del (p.Leu1512fs)
|
rs2099254893
|
|
NM_001164508.2(NEB):c.4550del (p.Thr1517fs)
|
rs2154185730
|
|
NM_001164508.2(NEB):c.4550dup (p.Ile1518fs)
|
|
|
NM_001164508.2(NEB):c.4623del (p.Ala1542fs)
|
rs1559039815
|
|
NM_001164508.2(NEB):c.4631G>A (p.Trp1544Ter)
|
|
|
NM_001164508.2(NEB):c.4646_4647del (p.Ala1549fs)
|
|
|
NM_001164508.2(NEB):c.4652del (p.Gly1551fs)
|
rs1553502168
|
|
NM_001164508.2(NEB):c.4725dup (p.Tyr1576fs)
|
|
|
NM_001164508.2(NEB):c.4740C>A (p.Tyr1580Ter)
|
rs766168868
|
|
NM_001164508.2(NEB):c.4751_4752del (p.Lys1584fs)
|
|
|
NM_001164508.2(NEB):c.4842C>G (p.Tyr1614Ter)
|
rs2154179061
|
|
NM_001164508.2(NEB):c.4843A>T (p.Lys1615Ter)
|
rs1237432906
|
|
NM_001164508.2(NEB):c.4924del (p.Glu1642fs)
|
|
|
NM_001164508.2(NEB):c.493C>T (p.Gln165Ter)
|
rs2099785680
|
|
NM_001164508.2(NEB):c.496_499del (p.Gln166fs)
|
rs1340063197
|
|
NM_001164508.2(NEB):c.5023C>T (p.Gln1675Ter)
|
|
|
NM_001164508.2(NEB):c.5136_5139del (p.Ser1712fs)
|
|
|
NM_001164508.2(NEB):c.5225_5226del (p.Leu1742fs)
|
rs2154176983
|
|
NM_001164508.2(NEB):c.5229dup (p.Met1744fs)
|
rs2154176971
|
|
NM_001164508.2(NEB):c.5245_5254del (p.Tyr1749fs)
|
rs2099191297
|
|
NM_001164508.2(NEB):c.5258G>A (p.Trp1753Ter)
|
rs776635100
|
|
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter)
|
rs2154175437
|
|
NM_001164508.2(NEB):c.5343+5G>A
|
rs2154175371
|
|
NM_001164508.2(NEB):c.5346del (p.Lys1782fs)
|
rs2154174916
|
|
NM_001164508.2(NEB):c.5364G>A (p.Trp1788Ter)
|
rs201636991
|
|
NM_001164508.2(NEB):c.5440_5449dup (p.Tyr1818delinsCysGlnTer)
|
|
|
NM_001164508.2(NEB):c.5458_5459del (p.Tyr1820fs)
|
rs2154172885
|
|
NM_001164508.2(NEB):c.5493_5494del (p.Ile1832fs)
|
rs2154172818
|
|
NM_001164508.2(NEB):c.5523_5527del (p.Lys1842fs)
|
rs2154172729
|
|
NM_001164508.2(NEB):c.5557C>T (p.Gln1853Ter)
|
rs2154172676
|
|
NM_001164508.2(NEB):c.5587G>T (p.Glu1863Ter)
|
rs1375183081
|
|
NM_001164508.2(NEB):c.5595dup (p.Lys1866fs)
|
rs2154172582
|
|
NM_001164508.2(NEB):c.5722del (p.Ser1908fs)
|
rs1553484601
|
|
NM_001164508.2(NEB):c.5959dup (p.Ile1987fs)
|
rs2154168541
|
|
NM_001164508.2(NEB):c.5977dup (p.Tyr1993fs)
|
rs2099118606
|
|
NM_001164508.2(NEB):c.5991_5992del (p.Trp1997_Glu1998delinsTer)
|
|
|
NM_001164508.2(NEB):c.6067_6068del (p.Met2023fs)
|
|
|
NM_001164508.2(NEB):c.6076-2A>C
|
rs1553469514
|
|
NM_001164508.2(NEB):c.6076-2A>G
|
rs1553469514
|
|
NM_001164508.2(NEB):c.6078del (p.Lys2026fs)
|
rs1057516758
|
|
NM_001164508.2(NEB):c.6103dup (p.Ser2035fs)
|
rs2154154153
|
|
NM_001164508.2(NEB):c.6112_6115del (p.Lys2038fs)
|
rs1575358650
|
|
NM_001164508.2(NEB):c.611del (p.Lys204fs)
|
rs2150729369
|
|
NM_001164508.2(NEB):c.617del (p.Leu206fs)
|
rs2150664716
|
|
NM_001164508.2(NEB):c.6204T>G (p.Tyr2068Ter)
|
rs2154149362
|
|
NM_001164508.2(NEB):c.6205G>T (p.Glu2069Ter)
|
|
|
NM_001164508.2(NEB):c.6242_6243del (p.Leu2081fs)
|
rs2154149251
|
|
NM_001164508.2(NEB):c.633G>A (p.Trp211Ter)
|
rs2099780461
|
|
NM_001164508.2(NEB):c.6343_6344dup (p.Ala2117fs)
|
rs1575295628
|
|
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)
|
rs80344795
|
|
NM_001164508.2(NEB):c.63del (p.Glu22fs)
|
rs2150994126
|
|
NM_001164508.2(NEB):c.6542G>A (p.Trp2181Ter)
|
rs2099082250
|
|
NM_001164508.2(NEB):c.6562del (p.Glu2188fs)
|
rs1558883594
|
|
NM_001164508.2(NEB):c.6572del (p.Lys2191fs)
|
|
|
NM_001164508.2(NEB):c.6609del (p.Lys2203fs)
|
|
|
NM_001164508.2(NEB):c.660del (p.Tyr221fs)
|
rs2150663206
|
|
NM_001164508.2(NEB):c.6639del (p.Phe2213fs)
|
rs2154147691
|
|
NM_001164508.2(NEB):c.6673dup (p.Ala2225fs)
|
|
|
NM_001164508.2(NEB):c.6709_6710del (p.Tyr2237fs)
|
|
|
NM_001164508.2(NEB):c.6710del (p.Tyr2237fs)
|
rs2099076260
|
|
NM_001164508.2(NEB):c.6722G>A (p.Trp2241Ter)
|
|
|
NM_001164508.2(NEB):c.6753del (p.Met2251fs)
|
rs2099075936
|
|
NM_001164508.2(NEB):c.6775C>T (p.Gln2259Ter)
|
rs773605767
|
|
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer)
|
rs1180339426
|
|
NM_001164508.2(NEB):c.6824del (p.Gly2275fs)
|
rs2099060040
|
|
NM_001164508.2(NEB):c.6884dup (p.Ala2296fs)
|
|
|
NM_001164508.2(NEB):c.6947_6954del (p.Leu2316fs)
|
|
|
NM_001164508.2(NEB):c.6993del (p.Val2332fs)
|
rs2099021112
|
|
NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)
|
|
|
NM_001164508.2(NEB):c.7152C>A (p.Tyr2384Ter)
|
rs2099020340
|
|
NM_001164508.2(NEB):c.7163G>A (p.Trp2388Ter)
|
rs2154135091
|
|
NM_001164508.2(NEB):c.7219C>T (p.Gln2407Ter)
|
rs2099019846
|
|
NM_001164508.2(NEB):c.724del (p.Tyr242fs)
|
rs1577548638
|
|
NM_001164508.2(NEB):c.7253G>A (p.Trp2418Ter)
|
rs1575122070
|
|
NM_001164508.2(NEB):c.732del (p.Gly245fs)
|
rs1486623736
|
|
NM_001164508.2(NEB):c.7335_7338del (p.Lys2445fs)
|
rs2154134253
|
|
NM_001164508.2(NEB):c.736del (p.Leu246fs)
|
rs2099762296
|
|
NM_001164508.2(NEB):c.739del (p.Ala247fs)
|
rs2150350376
|
|
NM_001164508.2(NEB):c.745C>T (p.Gln249Ter)
|
|
|
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)
|
rs878854368
|
|
NM_001164508.2(NEB):c.7527_7531del (p.Asn2509fs)
|
rs2154122471
|
|
NM_001164508.2(NEB):c.7543dup (p.Tyr2515fs)
|
|
|
NM_001164508.2(NEB):c.7546C>T (p.Arg2516Ter)
|
|
|
NM_001164508.2(NEB):c.7551_7558del (p.Met2517fs)
|
|
|
NM_001164508.2(NEB):c.7611del (p.Ala2538fs)
|
|
|
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)
|
rs1373493309
|
|
NM_001164508.2(NEB):c.7892G>A (p.Trp2631Ter)
|
rs2098919758
|
|
NM_001164508.2(NEB):c.79-1G>A
|
|
|
NM_001164508.2(NEB):c.7900del (p.Leu2634fs)
|
|
|
NM_001164508.2(NEB):c.7982G>A (p.Trp2661Ter)
|
|
|
NM_001164508.2(NEB):c.7984del (p.Trp2661_Leu2662insTer)
|
rs2098910159
|
|
NM_001164508.2(NEB):c.7997del (p.Gly2666fs)
|
rs2098909937
|
|
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172
|
|
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)
|
rs1057516676
|
|
NM_001164508.2(NEB):c.8056del (p.Ser2686fs)
|
|
|
NM_001164508.2(NEB):c.8234T>G (p.Leu2745Ter)
|
|
|
NM_001164508.2(NEB):c.8269_8270dup (p.Leu2757fs)
|
rs2154113080
|
|
NM_001164508.2(NEB):c.8386del (p.Glu2796fs)
|
rs2154105644
|
|
NM_001164508.2(NEB):c.8425del (p.Arg2809fs)
|
rs1574820458
|
|
NM_001164508.2(NEB):c.8458_8459del (p.Ser2820fs)
|
rs776982138
|
|
NM_001164508.2(NEB):c.8545_8546dup (p.Met2849fs)
|
|
|
NM_001164508.2(NEB):c.855_856insGCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATAAAATC (p.Lys286delinsAlaArgLeuProLeuProLeuProSerProSerProValSerLeuSerLeuSerArgLeuXaaXaaXaaXaaLysLysLysLysLysLysArgLysTer)
|
|
|
NM_001164508.2(NEB):c.8585_8588del (p.Val2862fs)
|
|
|
NM_001164508.2(NEB):c.858del (p.Gly287fs)
|
|
|
NM_001164508.2(NEB):c.8729G>A (p.Trp2910Ter)
|
|
|
NM_001164508.2(NEB):c.8803C>T (p.Gln2935Ter)
|
rs1351747266
|
|
NM_001164508.2(NEB):c.8860del (p.Ala2954fs)
|
rs1553964158
|
|
NM_001164508.2(NEB):c.8910G>A (p.Trp2970Ter)
|
|
|
NM_001164508.2(NEB):c.9211_9218del (p.Ser3071fs)
|
|
|
NM_001164508.2(NEB):c.9217_9218del (p.Arg3073fs)
|
rs1574526903
|
|
NM_001164508.2(NEB):c.9225C>G (p.Tyr3075Ter)
|
|
|
NM_001164508.2(NEB):c.9283dup (p.Val3095fs)
|
|
|
NM_001164508.2(NEB):c.9284del (p.Val3095fs)
|
|
|
NM_001164508.2(NEB):c.934del (p.Tyr312fs)
|
rs2150020225
|
|
NM_001164508.2(NEB):c.9396del (p.Tyr3133fs)
|
|
|
NM_001164508.2(NEB):c.9414+1G>A
|
rs1255445731
|
|
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter)
|
rs1553939806
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001164508.2(NEB):c.9508dup (p.Ile3170fs)
|
|
|
NM_001164508.2(NEB):c.9528C>A (p.Tyr3176Ter)
|
|
|
NM_001164508.2(NEB):c.9532C>T (p.Gln3178Ter)
|
rs2154073221
|
|
NM_001164508.2(NEB):c.9580C>T (p.Gln3194Ter)
|
rs2098659971
|
|
NM_001164508.2(NEB):c.9600del (p.Asn3200fs)
|
rs2154072959
|
|
NM_001164508.2(NEB):c.9619-1G>A
|
rs1390379576
|
|
NM_001164508.2(NEB):c.9726_9727insAT (p.Leu3243fs)
|
rs1553934562
|
|
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter)
|
rs1301228529
|
|
NM_001164508.2(NEB):c.9840C>G (p.Tyr3280Ter)
|
rs766355387
|
|
NM_001164508.2(NEB):c.9954T>G (p.Tyr3318Ter)
|
rs763541152
|
|
NM_001256545.2(MEGF10):c.1169del (p.Gly390fs)
|
|
|
NM_001256545.2(MEGF10):c.1192G>T (p.Glu398Ter)
|
rs200174116
|
|
NM_001256545.2(MEGF10):c.1518_1528del (p.Cys507fs)
|
rs2126973413
|
|
NM_001256545.2(MEGF10):c.198delinsACATTC (p.Trp66Ter)
|
rs1580733016
|
|
NM_001256545.2(MEGF10):c.240T>G (p.Tyr80Ter)
|
rs1234596293
|
|
NM_001256545.2(MEGF10):c.241C>T (p.Arg81Ter)
|
|
|
NM_001256545.2(MEGF10):c.2530C>T (p.Arg844Ter)
|
rs1765909318
|
|
NM_001256545.2(MEGF10):c.2663C>G (p.Ser888Ter)
|
|
|
NM_001256545.2(MEGF10):c.3094del (p.Thr1032fs)
|
rs2127045645
|
|
NM_001256545.2(MEGF10):c.3169A>T (p.Arg1057Ter)
|
rs1766329158
|
|
NM_001256545.2(MEGF10):c.480C>A (p.Cys160Ter)
|
|
|
NM_001256545.2(MEGF10):c.550C>T (p.Gln184Ter)
|
rs1763927242
|
|
NM_001256545.2(MEGF10):c.702T>A (p.Cys234Ter)
|
|
|
NM_001256545.2(MEGF10):c.721C>T (p.Gln241Ter)
|
|
|
NM_001256545.2(MEGF10):c.815del (p.Arg272fs)
|
rs2126934788
|
|
NM_001256545.2(MEGF10):c.976T>C (p.Cys326Arg)
|
rs387907073
|
|
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs)
|
rs878854281
|
|
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)
|
rs1057518195
|
|
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)
|
rs752697861
|
|
NM_001267550.2(TTN):c.103354C>T (p.Gln34452Ter)
|
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.103737_103738insCA (p.Met34580fs)
|
rs2154134687
|
|
NM_001267550.2(TTN):c.103749del (p.Lys34583fs)
|
rs1689787372
|
|
NM_001267550.2(TTN):c.104269C>T (p.Gln34757Ter)
|
rs2154134221
|
|
NM_001267550.2(TTN):c.104509_104510del (p.Leu34837fs)
|
|
|
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter)
|
rs886044460
|
|
NM_001267550.2(TTN):c.106358G>A (p.Trp35453Ter)
|
rs922408768
|
|
NM_001267550.2(TTN):c.106531+1G>A
|
rs760915007
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
|
rs281864927
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.12870dup (p.Val4291fs)
|
rs869025556
|
|
NM_001267550.2(TTN):c.15496+1G>A
|
rs397517481
|
|
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs)
|
rs2093000714
|
|
NM_001267550.2(TTN):c.34253_34277del (p.Leu11418fs)
|
rs1373610867
|
|
NM_001267550.2(TTN):c.35756del (p.Pro11919fs)
|
rs1241310204
|
|
NM_001267550.2(TTN):c.40409-2A>C
|
rs1560046529
|
|
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)
|
rs587780488
|
|
NM_001267550.2(TTN):c.41118del (p.Phe13706fs)
|
rs878854305
|
|
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter)
|
rs869312043
|
|
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs)
|
rs886039125
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter)
|
rs2154209202
|
|
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)
|
rs751502842
|
|
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter)
|
rs754866489
|
|
NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs)
|
rs1576402791
|
|
NM_001267550.2(TTN):c.51436+1G>T
|
rs761807131
|
|
NM_001267550.2(TTN):c.51436+2T>C
|
|
|
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer)
|
rs794729323
|
|
NM_001267550.2(TTN):c.53393del (p.Gly17798fs)
|
rs794729324
|
|
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)
|
rs727503607
|
|
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter)
|
rs1553682168
|
|
NM_001267550.2(TTN):c.54190+1G>A
|
rs756339648
|
|
NM_001267550.2(TTN):c.54190+1G>T
|
|
|
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter)
|
rs1440093502
|
|
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)
|
rs72646831
|
|
NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter)
|
rs72646837
|
|
NM_001267550.2(TTN):c.59926+1G>A
|
rs553526525
|
|
NM_001267550.2(TTN):c.59926+1G>C
|
|
|
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter)
|
rs1553644307
|
|
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter)
|
rs2050116026
|
|
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter)
|
rs869312112
|
|
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter)
|
rs757231565
|
|
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter)
|
rs769345390
|
|
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs)
|
rs1559561666
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)
|
rs1553636324
|
|
NM_001267550.2(TTN):c.64397-2del
|
|
|
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter)
|
rs768345594
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
NM_001267550.2(TTN):c.66769+2T>A
|
rs1060500483
|
|
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter)
|
rs1200988060
|
|
NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter)
|
rs1403485272
|
|
NM_001267550.2(TTN):c.68286_68289dup (p.Trp22764fs)
|
rs2154174801
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)
|
rs371678190
|
|
NM_001267550.2(TTN):c.68463_68466dup (p.Leu22823fs)
|
|
|
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter)
|
rs878854328
|
|
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)
|
rs781540455
|
|
NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter)
|
rs1553612386
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter)
|
rs794729285
|
|
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer)
|
rs1064796390
|
|
NM_001267550.2(TTN):c.74444del (p.Pro24815fs)
|
|
|
NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter)
|
rs781459488
|
|
NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter)
|
rs1553603394
|
|
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)
|
rs1553603152
|
|
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)
|
rs1553603036
|
|
NM_001267550.2(TTN):c.75663del (p.Lys25221fs)
|
rs1131691542
|
|
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs)
|
rs878854335
|
|
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter)
|
rs767450912
|
|
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs)
|
|
|
NM_001267550.2(TTN):c.77646del (p.Ile25883fs)
|
rs2154167034
|
|
NM_001267550.2(TTN):c.78095_78098del (p.Arg26032fs)
|
rs869312117
|
|
NM_001267550.2(TTN):c.78855_78858del (p.Arg26286fs)
|
rs794729346
|
|
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter)
|
rs779996703
|
|
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter)
|
rs774411587
|
|
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)
|
rs869025545
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
NM_001267550.2(TTN):c.81942del (p.Glu27315fs)
|
|
|
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter)
|
rs886042331
|
|
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)
|
rs779874042
|
|
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter)
|
rs869312118
|
|
NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter)
|
rs72648222
|
|
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs)
|
rs869312100
|
|
NM_001267550.2(TTN):c.85011_85014del (p.Glu28338fs)
|
rs2154159327
|
|
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)
|
rs748689777
|
|
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs)
|
rs1285329277
|
|
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter)
|
rs794729384
|
|
NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter)
|
rs1064793814
|
|
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs)
|
rs794729354
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
NM_001267550.2(TTN):c.86821+1G>A
|
rs1702741860
|
|
NM_001267550.2(TTN):c.87355del (p.Ala29119fs)
|
rs794729356
|
|
NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter)
|
rs1060500586
|
|
NM_001267550.2(TTN):c.87624C>G (p.Tyr29208Ter)
|
|
|
NM_001267550.2(TTN):c.88462dup (p.Cys29488fs)
|
rs2154153413
|
|
NM_001267550.2(TTN):c.88594+1G>T
|
rs794727467
|
|
NM_001267550.2(TTN):c.89197+2T>G
|
rs1575536935
|
|
NM_001267550.2(TTN):c.93088del (p.Arg31030fs)
|
rs2154147488
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs)
|
rs769488730
|
|
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs)
|
rs727503546
|
|
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
|
rs869320740
|
|
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)
|
rs869320742
|
|
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter)
|
rs780414947
|
|
NM_001267550.2(TTN):c.95351C>T (p.Ala31784Val)
|
rs1553520967
|
|
NM_001267550.2(TTN):c.95370_95387del (p.Gly31791_Ser31796del)
|
|
|
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp)
|
rs869320744
|
|
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)
|
rs746115846
|
|
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
|
|
|
NM_001267550.2(TTN):c.97492+1G>A
|
rs727505319
|
|
NM_001267550.2(TTN):c.97492+1G>C
|
rs727505319
|
|
NM_001267550.2(TTN):c.97492+1G>T
|
rs727505319
|
|
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)
|
rs727504535
|
|
NM_001271208.1(NEB):c.21103delG
|
rs1553686994
|
|
NM_001271208.2(NEB):c.18696_18697insSVAelement
|
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)
|
rs121908334
|
|
NM_001382567.1(STIM1):c.1189del (p.Ala397fs)
|
rs2133224258
|
|
NM_001382567.1(STIM1):c.1285C>T (p.Arg429Cys)
|
rs397514671
|
|
NM_001382567.1(STIM1):c.1452del (p.Ile484fs)
|
rs1565171115
|
|
NM_001382567.1(STIM1):c.1463T>A (p.Leu488Ter)
|
|
|
NM_001382567.1(STIM1):c.163_164del (p.Leu55fs)
|
rs2135736277
|
|
NM_001382567.1(STIM1):c.326A>G (p.His109Arg)
|
rs397514677
|
|
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe)
|
rs527236030
|
|
NM_001382567.1(STIM1):c.700_707del (p.Asn234fs)
|
rs1590688717
|
|
NM_001382567.1(STIM1):c.869_887del (p.Ile290fs)
|
rs751733169
|
|
NM_001382567.1(STIM1):c.910C>T (p.Arg304Trp)
|
rs483352867
|
|
NM_001458.5(FLNC):c.1027A>T (p.Lys343Ter)
|
rs745495679
|
|
NM_001458.5(FLNC):c.102G>A (p.Trp34Ter)
|
rs2128932126
|
|
NM_001458.5(FLNC):c.1055_1056del (p.Val352fs)
|
|
|
NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter)
|
rs2128934390
|
|
NM_001458.5(FLNC):c.1092dup (p.Glu365Ter)
|
|
|
NM_001458.5(FLNC):c.1111dup (p.Ala371fs)
|
rs2128934407
|
|
NM_001458.5(FLNC):c.1136C>G (p.Ser379Ter)
|
|
|
NM_001458.5(FLNC):c.1156G>T (p.Glu386Ter)
|
|
|
NM_001458.5(FLNC):c.1166dup (p.Asn390fs)
|
|
|
NM_001458.5(FLNC):c.1205del (p.Thr402fs)
|
rs2128934432
|
|
NM_001458.5(FLNC):c.1206_1207dup (p.Ala403fs)
|
|
|
NM_001458.5(FLNC):c.123del (p.Phe42fs)
|
|
|
NM_001458.5(FLNC):c.1260del (p.Arg421fs)
|
rs2128934500
|
|
NM_001458.5(FLNC):c.1315_1328del (p.Thr439fs)
|
|
|
NM_001458.5(FLNC):c.1343_1350del (p.His448fs)
|
|
|
NM_001458.5(FLNC):c.1374del (p.Ile459fs)
|
|
|
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter)
|
rs1420159591
|
|
NM_001458.5(FLNC):c.1463del (p.Gly488fs)
|
rs2128934867
|
|
NM_001458.5(FLNC):c.146_147insT (p.Leu50fs)
|
rs2128932142
|
|
NM_001458.5(FLNC):c.147delinsTCT (p.Lys51fs)
|
rs1562988883
|
|
NM_001458.5(FLNC):c.1503_1504dup (p.Lys502fs)
|
rs2128934883
|
|
NM_001458.5(FLNC):c.1503del (p.Lys502fs)
|
|
|
NM_001458.5(FLNC):c.1519_1525del (p.Gly507fs)
|
rs1554398092
|
|
NM_001458.5(FLNC):c.156dup (p.Val53fs)
|
rs2128932148
|
|
NM_001458.5(FLNC):c.1589_1602del (p.Asp530fs)
|
|
|
NM_001458.5(FLNC):c.1593_1600del (p.Phe533fs)
|
|
|
NM_001458.5(FLNC):c.1605C>A (p.Cys535Ter)
|
rs199976790
|
|
NM_001458.5(FLNC):c.1662C>A (p.Tyr554Ter)
|
rs376975967
|
|
NM_001458.5(FLNC):c.1670del (p.Pro557fs)
|
rs2128935054
|
|
NM_001458.5(FLNC):c.1730G>A (p.Trp577Ter)
|
rs2128935124
|
|
NM_001458.5(FLNC):c.175dup (p.Asp59fs)
|
|
|
NM_001458.5(FLNC):c.1806_1809dup (p.Leu604fs)
|
|
|
NM_001458.5(FLNC):c.181C>T (p.Gln61Ter)
|
rs2128932161
|
|
NM_001458.5(FLNC):c.1830dup (p.Pro611fs)
|
|
|
NM_001458.5(FLNC):c.1844dup (p.Ile616fs)
|
rs1808318504
|
|
NM_001458.5(FLNC):c.1849G>T (p.Glu617Ter)
|
|
|
NM_001458.5(FLNC):c.1861_1885dup (p.Arg629fs)
|
rs1585156327
|
|
NM_001458.5(FLNC):c.1866_1867del (p.Asp623fs)
|
|
|
NM_001458.5(FLNC):c.1890C>G (p.Tyr630Ter)
|
rs2128935258
|
|
NM_001458.5(FLNC):c.1893G>A (p.Trp631Ter)
|
rs1808320936
|
|
NM_001458.5(FLNC):c.1914C>G (p.Tyr638Ter)
|
rs757352623
|
|
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter)
|
rs770606675
|
|
NM_001458.5(FLNC):c.1965_1966del (p.Ala656fs)
|
rs1585156450
|
|
NM_001458.5(FLNC):c.1991_1994del (p.Asp664fs)
|
rs2128935287
|
|
NM_001458.5(FLNC):c.2048_2049del (p.Ile683fs)
|
rs2128935347
|
|
NM_001458.5(FLNC):c.2065G>T (p.Glu689Ter)
|
rs1446694237
|
|
NM_001458.5(FLNC):c.2084del (p.Arg695fs)
|
rs1808334682
|
|
NM_001458.5(FLNC):c.2114_2115del (p.Tyr705fs)
|
|
|
NM_001458.5(FLNC):c.2119C>T (p.Gln707Ter)
|
rs1808336992
|
|
NM_001458.5(FLNC):c.2145_2146dup (p.Ile716fs)
|
|
|
NM_001458.5(FLNC):c.2160del (p.Asn721fs)
|
|
|
NM_001458.5(FLNC):c.2190_2192del (p.Tyr730_Val731delinsTer)
|
|
|
NM_001458.5(FLNC):c.2234del (p.Gly745fs)
|
rs1374893890
|
|
NM_001458.5(FLNC):c.2299del (p.Arg766_Val767insTer)
|
rs2128935670
|
|
NM_001458.5(FLNC):c.234_235delinsTT (p.Gln79Ter)
|
|
|
NM_001458.5(FLNC):c.2385del (p.Gln796fs)
|
|
|
NM_001458.5(FLNC):c.2389+1G>T
|
|
|
NM_001458.5(FLNC):c.2389+2T>C
|
rs112903432
|
|
NM_001458.5(FLNC):c.2390-10_2406del
|
rs1554398674
|
|
NM_001458.5(FLNC):c.2432del (p.Gly811fs)
|
rs776269505
|
|
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter)
|
rs1389742580
|
|
NM_001458.5(FLNC):c.2507del (p.Pro836fs)
|
rs1808400111
|
|
NM_001458.5(FLNC):c.2508del (p.Ala838fs)
|
rs1808400430
|
|
NM_001458.5(FLNC):c.2548C>T (p.Gln850Ter)
|
rs1367760687
|
|
NM_001458.5(FLNC):c.2603_2604delinsT (p.Ser868fs)
|
rs1808416556
|
|
NM_001458.5(FLNC):c.2604del (p.Ser868fs)
|
rs2128935921
|
|
NM_001458.5(FLNC):c.2617G>T (p.Glu873Ter)
|
rs771092335
|
|
NM_001458.5(FLNC):c.261del (p.Pro88fs)
|
rs2128932217
|
|
NM_001458.5(FLNC):c.273del (p.Phe92fs)
|
|
|
NM_001458.5(FLNC):c.2743_2753del (p.Val914_Val915insTer)
|
rs2128936006
|
|
NM_001458.5(FLNC):c.2754_2755insC (p.Glu919fs)
|
rs2128936013
|
|
NM_001458.5(FLNC):c.2787del (p.Val930fs)
|
|
|
NM_001458.5(FLNC):c.2804_2807dup (p.Gln936fs)
|
|
|
NM_001458.5(FLNC):c.2816_2823dup (p.Val942fs)
|
rs2128936072
|
|
NM_001458.5(FLNC):c.2838T>A (p.Tyr946Ter)
|
rs769390195
|
|
NM_001458.5(FLNC):c.2846del (p.Asp949fs)
|
rs2128936089
|
|
NM_001458.5(FLNC):c.2864_2865del (p.Pro955fs)
|
|
|
NM_001458.5(FLNC):c.2872del (p.Val957_Val958insTer)
|
rs1401551498
|
|
NM_001458.5(FLNC):c.2905del (p.Ile969fs)
|
rs2128936107
|
|
NM_001458.5(FLNC):c.2914C>T (p.Gln972Ter)
|
|
|
NM_001458.5(FLNC):c.2918del (p.Gly973fs)
|
|
|
NM_001458.5(FLNC):c.2930-1G>A
|
|
|
NM_001458.5(FLNC):c.2931_2938dup (p.Val980fs)
|
|
|
NM_001458.5(FLNC):c.2950C>T (p.Gln984Ter)
|
rs769865678
|
|
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)
|
rs886037830
|
|
NM_001458.5(FLNC):c.2977del (p.Ala993fs)
|
|
|
NM_001458.5(FLNC):c.300_301dup (p.Ser101fs)
|
|
|
NM_001458.5(FLNC):c.3019del (p.Ser1007fs)
|
rs2128936173
|
|
NM_001458.5(FLNC):c.3070C>T (p.Gln1024Ter)
|
rs2128936189
|
|
NM_001458.5(FLNC):c.3084C>A (p.Tyr1028Ter)
|
rs761978559
|
|
NM_001458.5(FLNC):c.3084del (p.Arg1027_Tyr1028insTer)
|
|
|
NM_001458.5(FLNC):c.3092del (p.Pro1031fs)
|
|
|
NM_001458.5(FLNC):c.3108C>A (p.Tyr1036Ter)
|
|
|
NM_001458.5(FLNC):c.3161_3174del (p.Val1054fs)
|
|
|
NM_001458.5(FLNC):c.3179del (p.Pro1060fs)
|
|
|
NM_001458.5(FLNC):c.3180del (p.Asp1061fs)
|
rs1064795229
|
|
NM_001458.5(FLNC):c.3221dup (p.Gly1075fs)
|
rs2128936346
|
|
NM_001458.5(FLNC):c.3307_3313del (p.Cys1103fs)
|
rs2128936386
|
|
NM_001458.5(FLNC):c.338del (p.Lys113fs)
|
|
|
NM_001458.5(FLNC):c.3415del (p.His1139fs)
|
rs1808489575
|
|
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)
|
rs1114167361
|
|
NM_001458.5(FLNC):c.3670_3671dup (p.Ile1226fs)
|
rs1808505973
|
|
NM_001458.5(FLNC):c.3679dup (p.Thr1227fs)
|
|
|
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs)
|
rs2128936511
|
|
NM_001458.5(FLNC):c.3699del (p.Val1235fs)
|
rs1808508148
|
|
NM_001458.5(FLNC):c.3702del (p.Val1235fs)
|
rs2128936516
|
|
NM_001458.5(FLNC):c.3711del (p.Lys1237fs)
|
rs2128936518
|
|
NM_001458.5(FLNC):c.3733_3737dup (p.Ala1247fs)
|
|
|
NM_001458.5(FLNC):c.3854del (p.Gly1285fs)
|
rs1808550611
|
|
NM_001458.5(FLNC):c.3859_3866del (p.His1287fs)
|
|
|
NM_001458.5(FLNC):c.3863_3867dup (p.Ala1290Ter)
|
|
|
NM_001458.5(FLNC):c.3909T>A (p.Tyr1303Ter)
|
|
|
NM_001458.5(FLNC):c.3933_3937del (p.Tyr1312fs)
|
rs1808555459
|
|
NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs)
|
rs1554399513
|
|
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter)
|
rs766330686
|
|
NM_001458.5(FLNC):c.3943C>T (p.Gln1315Ter)
|
|
|
NM_001458.5(FLNC):c.3944del (p.Gln1315fs)
|
|
|
NM_001458.5(FLNC):c.3949_3950del (p.Thr1317fs)
|
|
|
NM_001458.5(FLNC):c.4000_4015del (p.Ala1334fs)
|
|
|
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)
|
rs1562998062
|
|
NM_001458.5(FLNC):c.4054del (p.Arg1352fs)
|
|
|
NM_001458.5(FLNC):c.4059_4060del (p.Arg1354fs)
|
|
|
NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter)
|
rs138193236
|
|
NM_001458.5(FLNC):c.4071del (p.Pro1358fs)
|
|
|
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter)
|
rs1342121466
|
|
NM_001458.5(FLNC):c.4127+1G>T
|
rs1346981294
|
|
NM_001458.5(FLNC):c.4192A>T (p.Lys1398Ter)
|
|
|
NM_001458.5(FLNC):c.420del (p.Tyr141fs)
|
|
|
NM_001458.5(FLNC):c.4275del (p.Arg1426fs)
|
|
|
NM_001458.5(FLNC):c.4275dup (p.Arg1426fs)
|
rs756985550
|
|
NM_001458.5(FLNC):c.4321del (p.Val1441fs)
|
|
|
NM_001458.5(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer)
|
rs1562998858
|
|
NM_001458.5(FLNC):c.4363_4375dup (p.Ala1459fs)
|
|
|
NM_001458.5(FLNC):c.4432C>T (p.Gln1478Ter)
|
rs2128937285
|
|
NM_001458.5(FLNC):c.444G>A (p.Trp148Ter)
|
rs1554397197
|
|
NM_001458.5(FLNC):c.4458del (p.Val1487fs)
|
|
|
NM_001458.5(FLNC):c.4510del (p.His1504fs)
|
|
|
NM_001458.5(FLNC):c.4557T>A (p.Tyr1519Ter)
|
rs2128937364
|
|
NM_001458.5(FLNC):c.4564C>T (p.Gln1522Ter)
|
|
|
NM_001458.5(FLNC):c.4564del (p.Gln1522fs)
|
rs2128937368
|
|
NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr)
|
rs1562999443
|
|
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter)
|
rs1562999451
|
|
NM_001458.5(FLNC):c.4682del (p.Glu1561fs)
|
rs2128937556
|
|
NM_001458.5(FLNC):c.4716del (p.Leu1573fs)
|
rs1554400021
|
|
NM_001458.5(FLNC):c.4718T>A (p.Leu1573Ter)
|
rs2128937575
|
|
NM_001458.5(FLNC):c.4729C>T (p.Gln1577Ter)
|
rs1585163755
|
|
NM_001458.5(FLNC):c.4755del (p.Lys1586fs)
|
rs2128937622
|
|
NM_001458.5(FLNC):c.4794C>A (p.Tyr1598Ter)
|
rs1808681247
|
|
NM_001458.5(FLNC):c.4845del (p.Lys1615fs)
|
|
|
NM_001458.5(FLNC):c.486dup (p.Gln163fs)
|
rs2128933653
|
|
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)
|
rs1402879259
|
|
NM_001458.5(FLNC):c.4946del (p.Gly1649fs)
|
rs1282619643
|
|
NM_001458.5(FLNC):c.4959C>A (p.Cys1653Ter)
|
|
|
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)
|
rs1563000044
|
|
NM_001458.5(FLNC):c.4984C>T (p.Gln1662Ter)
|
rs1808708673
|
|
NM_001458.5(FLNC):c.5165del (p.Gly1722fs)
|
rs1554400242
|
|
NM_001458.5(FLNC):c.5187del (p.Phe1730fs)
|
|
|
NM_001458.5(FLNC):c.531del (p.Ile178fs)
|
rs2128933676
|
|
NM_001458.5(FLNC):c.5335G>T (p.Glu1779Ter)
|
rs1808758208
|
|
NM_001458.5(FLNC):c.5360del (p.Leu1787fs)
|
|
|
NM_001458.5(FLNC):c.5389dup (p.Glu1797fs)
|
rs2128938104
|
|
NM_001458.5(FLNC):c.5469_5482del (p.Val1824fs)
|
rs1808778979
|
|
NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter)
|
rs371167779
|
|
NM_001458.5(FLNC):c.5520T>A (p.Tyr1840Ter)
|
rs1808781579
|
|
NM_001458.5(FLNC):c.554G>A (p.Trp185Ter)
|
rs1585151331
|
|
NM_001458.5(FLNC):c.5557del (p.Tyr1853fs)
|
rs2128938355
|
|
NM_001458.5(FLNC):c.555G>A (p.Trp185Ter)
|
rs2128933685
|
|
NM_001458.5(FLNC):c.5569_5578del (p.Ile1857fs)
|
rs2128938360
|
|
NM_001458.5(FLNC):c.5613_5635del (p.Gly1872fs)
|
rs2128938382
|
|
NM_001458.5(FLNC):c.563del (p.Gly188fs)
|
rs2128933688
|
|
NM_001458.5(FLNC):c.5653A>T (p.Lys1885Ter)
|
rs1563001456
|
|
NM_001458.5(FLNC):c.5665del (p.Glu1889fs)
|
rs2128938391
|
|
NM_001458.5(FLNC):c.5669-1del
|
rs1563001548
|
|
NM_001458.5(FLNC):c.5675_5678del (p.Leu1892fs)
|
rs1585166614
|
|
NM_001458.5(FLNC):c.5676dup (p.Ser1893fs)
|
|
|
NM_001458.5(FLNC):c.5685del (p.Val1896fs)
|
rs1808809268
|
|
NM_001458.5(FLNC):c.5697dup (p.Ser1900fs)
|
rs1554400700
|
|
NM_001458.5(FLNC):c.5704del (p.Ala1902fs)
|
rs1554400703
|
|
NM_001458.5(FLNC):c.5733dup (p.Gly1912fs)
|
rs2128938455
|
|
NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter)
|
rs764539989
|
|
NM_001458.5(FLNC):c.5763del (p.Ala1922fs)
|
|
|
NM_001458.5(FLNC):c.5778C>G (p.Tyr1926Ter)
|
|
|
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
|
rs387906587
|
|
NM_001458.5(FLNC):c.5789_5790del (p.Val1930fs)
|
|
|
NM_001458.5(FLNC):c.581_600del (p.Leu194fs)
|
|
|
NM_001458.5(FLNC):c.5845_5848dup (p.Asp1950delinsGlyTer)
|
|
|
NM_001458.5(FLNC):c.5866C>T (p.Gln1956Ter)
|
rs2128938768
|
|
NM_001458.5(FLNC):c.5889_5896dup (p.Ser1966fs)
|
|
|
NM_001458.5(FLNC):c.5904dup (p.Ile1969fs)
|
rs1585167678
|
|
NM_001458.5(FLNC):c.5920_5921del (p.Leu1974fs)
|
|
|
NM_001458.5(FLNC):c.592_593del (p.Cys198fs)
|
rs2128933700
|
|
NM_001458.5(FLNC):c.5983del (p.Arg1995fs)
|
rs1808872966
|
|
NM_001458.5(FLNC):c.6009del (p.Ser2004fs)
|
|
|
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg)
|
rs1554400962
|
|
NM_001458.5(FLNC):c.6054dup (p.Lys2019fs)
|
|
|
NM_001458.5(FLNC):c.6071del (p.Val2024fs)
|
rs2128938894
|
|
NM_001458.5(FLNC):c.609C>A (p.Cys203Ter)
|
rs1455396332
|
|
NM_001458.5(FLNC):c.6160G>T (p.Gly2054Ter)
|
|
|
NM_001458.5(FLNC):c.6190dup (p.Val2064fs)
|
rs1808888920
|
|
NM_001458.5(FLNC):c.6240_6259del (p.Pro2081fs)
|
rs2128939085
|
|
NM_001458.5(FLNC):c.6242dup (p.Ser2082fs)
|
rs1585168573
|
|
NM_001458.5(FLNC):c.627G>A (p.Trp209Ter)
|
|
|
NM_001458.5(FLNC):c.6339del (p.Lys2113fs)
|
|
|
NM_001458.5(FLNC):c.6345_6352del (p.Asp2116fs)
|
rs1808918080
|
|
NM_001458.5(FLNC):c.6447del (p.Ile2150fs)
|
rs1563003153
|
|
NM_001458.5(FLNC):c.6491G>A (p.Trp2164Ter)
|
rs2128939246
|
|
NM_001458.5(FLNC):c.6496C>T (p.Gln2166Ter)
|
|
|
NM_001458.5(FLNC):c.6561_6564del (p.Thr2188fs)
|
|
|
NM_001458.5(FLNC):c.658del (p.Glu220fs)
|
rs2128934070
|
|
NM_001458.5(FLNC):c.6634C>T (p.Gln2212Ter)
|
rs2128939316
|
|
NM_001458.5(FLNC):c.664A>G (p.Met222Val)
|
rs2128934074
|
|
NM_001458.5(FLNC):c.6663_6664del (p.Phe2222fs)
|
rs2128939337
|
|
NM_001458.5(FLNC):c.670C>T (p.Gln224Ter)
|
|
|
NM_001458.5(FLNC):c.671del (p.Gln224fs)
|
rs2128934076
|
|
NM_001458.5(FLNC):c.6721C>T (p.Gln2241Ter)
|
rs2128939369
|
|
NM_001458.5(FLNC):c.6727+21_7065del
|
|
|
NM_001458.5(FLNC):c.6749_6758del (p.Met2250fs)
|
|
|
NM_001458.5(FLNC):c.6753_6754dup (p.Ala2252fs)
|
|
|
NM_001458.5(FLNC):c.6753dup (p.Ala2252fs)
|
rs1808965674
|
|
NM_001458.5(FLNC):c.6770dup (p.Ser2258fs)
|
|
|
NM_001458.5(FLNC):c.6802G>T (p.Glu2268Ter)
|
rs1156444972
|
|
NM_001458.5(FLNC):c.6812del (p.Asp2271fs)
|
|
|
NM_001458.5(FLNC):c.6835_6838del (p.Val2279fs)
|
|
|
NM_001458.5(FLNC):c.6841dup (p.Gln2281fs)
|
rs2128939496
|
|
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs)
|
rs2128939508
|
|
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter)
|
rs1585169831
|
|
NM_001458.5(FLNC):c.6890dup (p.Pro2298fs)
|
|
|
NM_001458.5(FLNC):c.6907C>T (p.Gln2303Ter)
|
|
|
NM_001458.5(FLNC):c.6955del (p.Ala2319fs)
|
rs2128939548
|
|
NM_001458.5(FLNC):c.6957del (p.Gly2320fs)
|
|
|
NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter)
|
rs748416758
|
|
NM_001458.5(FLNC):c.697C>T (p.Gln233Ter)
|
rs1554397464
|
|
NM_001458.5(FLNC):c.6982G>A (p.Val2328Met)
|
rs2128939561
|
|
NM_001458.5(FLNC):c.6998_6999insATCT (p.Glu2334fs)
|
|
|
NM_001458.5(FLNC):c.7000G>T (p.Glu2334Ter)
|
|
|
NM_001458.5(FLNC):c.7014G>A (p.Trp2338Ter)
|
rs2128939606
|
|
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)
|
|
|
NM_001458.5(FLNC):c.7251+1G>A
|
rs1554401581
|
|
NM_001458.5(FLNC):c.7251+1G>T
|
rs1554401581
|
|
NM_001458.5(FLNC):c.7261del (p.Leu2421fs)
|
rs2128940107
|
|
NM_001458.5(FLNC):c.7273_7274insTTCAC (p.Gln2425fs)
|
|
|
NM_001458.5(FLNC):c.7294C>T (p.Gln2432Ter)
|
rs1554401756
|
|
NM_001458.5(FLNC):c.7309dup (p.Arg2437fs)
|
rs2128940130
|
|
NM_001458.5(FLNC):c.7338_7339del (p.Pro2447fs)
|
rs1585171628
|
|
NM_001458.5(FLNC):c.7341del (p.Ser2448fs)
|
|
|
NM_001458.5(FLNC):c.7365C>A (p.Tyr2455Ter)
|
rs540386120
|
|
NM_001458.5(FLNC):c.7371del (p.Glu2458fs)
|
rs1554401780
|
|
NM_001458.5(FLNC):c.7414G>T (p.Glu2472Ter)
|
rs948675422
|
|
NM_001458.5(FLNC):c.7495C>T (p.Gln2499Ter)
|
|
|
NM_001458.5(FLNC):c.7496_7497insTGCT (p.Gln2499fs)
|
rs1554401830
|
|
NM_001458.5(FLNC):c.7510del (p.Asp2504fs)
|
rs2128940259
|
|
NM_001458.5(FLNC):c.7526_7527delinsAG (p.Ser2509Ter)
|
rs1809085817
|
|
NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs)
|
rs1554401837
|
|
NM_001458.5(FLNC):c.7551_7552del (p.Gly2518fs)
|
|
|
NM_001458.5(FLNC):c.7562-1_7612dup
|
|
|
NM_001458.5(FLNC):c.7571del (p.Ser2523_Ser2524insTer)
|
rs1809097778
|
|
NM_001458.5(FLNC):c.7660del (p.Glu2554fs)
|
rs1809103569
|
|
NM_001458.5(FLNC):c.774del (p.Lys259fs)
|
rs1554397506
|
|
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs)
|
rs2128940399
|
|
NM_001458.5(FLNC):c.7757_7758delinsA (p.Ser2586fs)
|
rs1809109008
|
|
NM_001458.5(FLNC):c.778del (p.Ala260fs)
|
|
|
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs)
|
rs1554402003
|
|
NM_001458.5(FLNC):c.7929del (p.Leu2645fs)
|
rs1554402015
|
|
NM_001458.5(FLNC):c.794del (p.Gly265fs)
|
rs2128934191
|
|
NM_001458.5(FLNC):c.7980C>A (p.Cys2660Ter)
|
rs2128940614
|
|
NM_001458.5(FLNC):c.801del (p.Val268fs)
|
rs2128934193
|
|
NM_001458.5(FLNC):c.8028del (p.Thr2677fs)
|
|
|
NM_001458.5(FLNC):c.804del (p.Arg269fs)
|
|
|
NM_001458.5(FLNC):c.8051del (p.Val2684fs)
|
rs1809161384
|
|
NM_001458.5(FLNC):c.805C>T (p.Arg269Ter)
|
rs755583250
|
|
NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter)
|
rs1563006133
|
|
NM_001458.5(FLNC):c.8103_8104del (p.Asp2703fs)
|
|
|
NM_001458.5(FLNC):c.8107del (p.Asp2703fs)
|
rs1563006160
|
|
NM_001458.5(FLNC):c.8110_8111insC (p.Tyr2704fs)
|
|
|
NM_001458.5(FLNC):c.8129G>A (p.Trp2710Ter)
|
rs1585173340
|
|
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter)
|
rs121909518
|
|
NM_001458.5(FLNC):c.901C>T (p.Gln301Ter)
|
|
|
NM_001458.5(FLNC):c.964G>T (p.Glu322Ter)
|
rs1417082178
|
|
NM_001458.5(FLNC):c.985_986dup (p.Asn329fs)
|
|
|
NM_001843.4(CNTN1):c.1074del (p.Ile359fs)
|
rs1592283787
|
|
NM_001843.4(CNTN1):c.1470_1471del (p.Gly491fs)
|
|
|
NM_001843.4(CNTN1):c.1615del (p.Val539fs)
|
rs2136952659
|
|
NM_001843.4(CNTN1):c.1711C>T (p.Arg571Ter)
|
|
|
NM_001843.4(CNTN1):c.215dup (p.Val74fs)
|
rs1565946117
|
|
NM_001843.4(CNTN1):c.2273_2274del (p.Thr758fs)
|
|
|
NM_001843.4(CNTN1):c.2506del (p.Lys835_Ile836insTer)
|
rs1592415275
|
|
NM_001843.4(CNTN1):c.2632_2636del (p.Phe878fs)
|
rs2120819481
|
|
NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)
|
|
|
NM_001843.4(CNTN1):c.2795C>A (p.Ser932Ter)
|
rs1555201269
|
|
NM_001843.4(CNTN1):c.2923G>T (p.Glu975Ter)
|
rs1555201480
|
|
NM_001843.4(CNTN1):c.482dup (p.Tyr162fs)
|
|
|
NM_001843.4(CNTN1):c.62del (p.Glu21fs)
|
rs2136817458
|
|
NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter)
|
|
|
NM_001848.3(COL6A1):c.1003-1G>A
|
rs886043330
|
|
NM_001848.3(COL6A1):c.1003-1G>T
|
rs886043330
|
|
NM_001848.3(COL6A1):c.1003-2A>C
|
rs797045477
|
|
NM_001848.3(COL6A1):c.1003-2A>G
|
rs797045477
|
|
NM_001848.3(COL6A1):c.1003-2del
|
rs1556425835
|
|
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)
|
rs886043321
|
|
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)
|
rs121912935
|
|
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val)
|
rs121912935
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1G>C
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1G>T
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1del
|
rs1556425853
|
|
NM_001848.3(COL6A1):c.1056+2T>A
|
|
|
NM_001848.3(COL6A1):c.1056+2dup
|
|
|
NM_001848.3(COL6A1):c.1056+3A>C
|
rs2077772542
|
|
NM_001848.3(COL6A1):c.1056+5G>A
|
rs886044511
|
|
NM_001848.3(COL6A1):c.130_133dup (p.Ser45fs)
|
rs2077714727
|
|
NM_001848.3(COL6A1):c.1318G>T (p.Gly440Ter)
|
rs2123475539
|
|
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)
|
rs878854398
|
|
NM_001848.3(COL6A1):c.148del (p.Ala49_Leu50insTer)
|
rs1556423728
|
|
NM_001848.3(COL6A1):c.1591del (p.Arg531fs)
|
rs2077819120
|
|
NM_001848.3(COL6A1):c.1724dup (p.Pro576fs)
|
rs2077824006
|
|
NM_001848.3(COL6A1):c.1738del (p.Gln580fs)
|
rs2123484530
|
|
NM_001848.3(COL6A1):c.1867_1868del (p.Ser623fs)
|
rs2123488904
|
|
NM_001848.3(COL6A1):c.1868C>G (p.Ser623Ter)
|
|
|
NM_001848.3(COL6A1):c.2431_2434+36del
|
rs759918870
|
|
NM_001848.3(COL6A1):c.310_311del (p.Thr104fs)
|
|
|
NM_001848.3(COL6A1):c.310dup (p.Thr104fs)
|
|
|
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)
|
rs121912936
|
|
NM_001848.3(COL6A1):c.428+1G>A
|
rs1569517717
|
|
NM_001848.3(COL6A1):c.50_51del (p.Thr17fs)
|
rs747419878
|
|
NM_001848.3(COL6A1):c.554_555del (p.Lys185fs)
|
rs1377090546
|
|
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs)
|
rs1603589162
|
|
NM_001848.3(COL6A1):c.58C>T (p.Gln20Ter)
|
rs1603589167
|
|
NM_001848.3(COL6A1):c.739-2A>G
|
rs2123467538
|
|
NM_001848.3(COL6A1):c.751G>T (p.Glu251Ter)
|
|
|
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs)
|
rs886043354
|
|
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)
|
rs886043351
|
|
NM_001848.3(COL6A1):c.804+1G>A
|
rs1385646650
|
|
NM_001848.3(COL6A1):c.805-2A>C
|
rs398123639
|
|
NM_001848.3(COL6A1):c.805-2A>G
|
rs398123639
|
|
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu)
|
rs2077759104
|
|
NM_001848.3(COL6A1):c.811C>T (p.Arg271Ter)
|
rs1391624796
|
|
NM_001848.3(COL6A1):c.814G>C (p.Gly272Arg)
|
rs398123640
|
|
NM_001848.3(COL6A1):c.815G>A (p.Gly272Asp)
|
rs1064793840
|
|
NM_001848.3(COL6A1):c.823G>A (p.Gly275Arg)
|
rs1556425467
|
|
NM_001848.3(COL6A1):c.823G>T (p.Gly275Trp)
|
rs1556425467
|
|
NM_001848.3(COL6A1):c.824G>T (p.Gly275Val)
|
rs1556425468
|
|
NM_001848.3(COL6A1):c.833G>T (p.Gly278Val)
|
|
|
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg)
|
rs267606746
|
|
NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu)
|
rs886041383
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
NM_001848.3(COL6A1):c.859-2A>G
|
|
|
NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg)
|
rs1057521152
|
|
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu)
|
rs2077761954
|
|
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.868G>T (p.Gly290Trp)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)
|
rs398123643
|
|
NM_001848.3(COL6A1):c.877G>C (p.Gly293Arg)
|
rs398123643
|
|
NM_001848.3(COL6A1):c.878G>A (p.Gly293Glu)
|
rs1603590641
|
|
NM_001848.3(COL6A1):c.878G>T (p.Gly293Val)
|
rs1603590641
|
|
NM_001848.3(COL6A1):c.883_903+27delinsCAGGACCTCGGACCTGAGG
|
|
|
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)
|
rs1603590649
|
|
NM_001848.3(COL6A1):c.895G>A (p.Gly299Arg)
|
rs2077762322
|
|
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)
|
rs398123644
|
|
NM_001848.3(COL6A1):c.903+1G>T
|
rs1569518119
|
|
NM_001848.3(COL6A1):c.903+2_903+10del
|
|
|
NM_001848.3(COL6A1):c.904-39A>G
|
rs1569518138
|
|
NM_001848.3(COL6A1):c.905G>A (p.Gly302Glu)
|
rs1556425566
|
|
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)
|
rs886042684
|
|
NM_001848.3(COL6A1):c.928_930del (p.Lys310del)
|
rs886043114
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
NM_001848.3(COL6A1):c.930+1G>A
|
rs886042902
|
|
NM_001848.3(COL6A1):c.931-1G>A
|
rs886042354
|
|
NM_001848.3(COL6A1):c.931-1G>C
|
rs886042354
|
|
NM_001848.3(COL6A1):c.931G>T (p.Gly311Cys)
|
rs2123471915
|
|
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)
|
rs886044231
|
|
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg)
|
rs794727059
|
|
NM_001848.3(COL6A1):c.957+1G>A
|
rs886044535
|
|
NM_001848.3(COL6A1):c.957+1G>C
|
|
|
NM_001848.3(COL6A1):c.957G>A (p.Lys319=)
|
rs1057520625
|
|
NM_001848.3(COL6A1):c.958-2A>G
|
rs1556425717
|
|
NM_001848.3(COL6A1):c.958-2_958-1del
|
rs2123472064
|
|
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)
|
rs886043164
|
|
NM_001849.4(COL6A2):c.1000-1G>T
|
rs1555873358
|
|
NM_001849.4(COL6A2):c.1000-2A>C
|
rs1555873356
|
|
NM_001849.4(COL6A2):c.1000-2A>G
|
rs1555873356
|
|
NM_001849.4(COL6A2):c.1053+1G>A
|
rs886043187
|
|
NM_001849.4(COL6A2):c.1053+2T>A
|
rs2123631474
|
|
NM_001849.4(COL6A2):c.1053+2T>G
|
rs2123631474
|
|
NM_001849.4(COL6A2):c.1059del (p.Asp354fs)
|
rs1555873508
|
|
NM_001849.4(COL6A2):c.1075dup (p.Glu359fs)
|
rs2078499771
|
|
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)
|
rs387906609
|
|
NM_001849.4(COL6A2):c.1249del (p.Arg417fs)
|
rs2078521344
|
|
NM_001849.4(COL6A2):c.1294A>T (p.Lys432Ter)
|
rs752730608
|
|
NM_001849.4(COL6A2):c.1327G>T (p.Glu443Ter)
|
|
|
NM_001849.4(COL6A2):c.1332+2T>C
|
rs2078532687
|
|
NM_001849.4(COL6A2):c.1437_1447del (p.Leu480fs)
|
|
|
NM_001849.4(COL6A2):c.1459-2A>G
|
rs749974929
|
|
NM_001849.4(COL6A2):c.1507C>T (p.Gln503Ter)
|
|
|
NM_001849.4(COL6A2):c.1548del (p.Tyr517fs)
|
rs2078576503
|
|
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter)
|
rs773686174
|
|
NM_001849.4(COL6A2):c.1572+1G>A
|
rs1057520717
|
|
NM_001849.4(COL6A2):c.1650del (p.Gly552fs)
|
|
|
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1])
|
rs773493556
|
|
NM_001849.4(COL6A2):c.1751del (p.Pro584fs)
|
rs886044398
|
|
NM_001849.4(COL6A2):c.1770+1del
|
rs886044215
|
|
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)
|
rs267606750
|
|
NM_001849.4(COL6A2):c.1956dup (p.Lys653fs)
|
|
|
NM_001849.4(COL6A2):c.1990C>T (p.Gln664Ter)
|
|
|
NM_001849.4(COL6A2):c.2002G>T (p.Glu668Ter)
|
rs138948335
|
|
NM_001849.4(COL6A2):c.2023C>T (p.Gln675Ter)
|
rs1293736497
|
|
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp)
|
rs863224861
|
|
NM_001849.4(COL6A2):c.2097_2098delinsTA (p.Gly700Ser)
|
rs2123663616
|
|
NM_001849.4(COL6A2):c.2098G>A (p.Gly700Ser)
|
rs794727418
|
|
NM_001849.4(COL6A2):c.2133C>A (p.Tyr711Ter)
|
rs531816975
|
|
NM_001849.4(COL6A2):c.2161C>T (p.Gln721Ter)
|
|
|
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer)
|
rs2078662535
|
|
NM_001849.4(COL6A2):c.2315_2322del (p.Leu772fs)
|
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
|
NM_001849.4(COL6A2):c.2341C>T (p.Gln781Ter)
|
rs2123664803
|
|
NM_001849.4(COL6A2):c.2418C>A (p.Cys806Ter)
|
|
|
NM_001849.4(COL6A2):c.2476C>T (p.Gln826Ter)
|
rs2123454401
|
|
NM_001849.4(COL6A2):c.2500_2501del (p.Ile834fs)
|
rs2123454477
|
|
NM_001849.4(COL6A2):c.2560_2569dup (p.Glu857fs)
|
rs2123454645
|
|
NM_001849.4(COL6A2):c.2572C>T (p.Gln858Ter)
|
rs1555877252
|
|
NM_001849.4(COL6A2):c.2586dup (p.Leu863fs)
|
rs2123454751
|
|
NM_001849.4(COL6A2):c.2663_2664dup (p.Gln889fs)
|
rs2123455043
|
|
NM_001849.4(COL6A2):c.2730C>A (p.Tyr910Ter)
|
|
|
NM_001849.4(COL6A2):c.2793_2821del (p.Ser931fs)
|
rs745716104
|
|
NM_001849.4(COL6A2):c.2865_2866del (p.Asp955fs)
|
|
|
NM_001849.4(COL6A2):c.288C>A (p.Tyr96Ter)
|
rs61735833
|
|
NM_001849.4(COL6A2):c.2988dup (p.Phe997fs)
|
rs1555877364
|
|
NM_001849.4(COL6A2):c.2995G>T (p.Glu999Ter)
|
rs142296092
|
|
NM_001849.4(COL6A2):c.430C>T (p.Gln144Ter)
|
|
|
NM_001849.4(COL6A2):c.641_645del (p.Asn214fs)
|
rs1375040481
|
|
NM_001849.4(COL6A2):c.714+1G>C
|
rs2078419667
|
|
NM_001849.4(COL6A2):c.736-1G>A
|
rs1601221868
|
|
NM_001849.4(COL6A2):c.736-1G>C
|
rs1601221868
|
|
NM_001849.4(COL6A2):c.736-2A>G
|
rs1057518925
|
|
NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp)
|
rs886042943
|
|
NM_001849.4(COL6A2):c.794G>A (p.Gly265Glu)
|
rs2078438903
|
|
NM_001849.4(COL6A2):c.801+1G>A
|
rs794727715
|
|
NM_001849.4(COL6A2):c.801+1G>T
|
rs794727715
|
|
NM_001849.4(COL6A2):c.801+2T>G
|
|
|
NM_001849.4(COL6A2):c.802G>A (p.Gly268Ser)
|
rs2123625485
|
|
NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser)
|
rs121912940
|
|
NM_001849.4(COL6A2):c.812G>T (p.Gly271Val)
|
rs794727788
|
|
NM_001849.4(COL6A2):c.820G>A (p.Gly274Ser)
|
rs2078462673
|
|
NM_001849.4(COL6A2):c.821G>A (p.Gly274Asp)
|
rs2123625569
|
|
NM_001849.4(COL6A2):c.830del (p.Gly277fs)
|
rs1555872819
|
|
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg)
|
rs886043323
|
|
NM_001849.4(COL6A2):c.839G>A (p.Gly280Asp)
|
rs1568928804
|
|
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg)
|
rs267606748
|
|
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)
|
rs886044088
|
|
NM_001849.4(COL6A2):c.855+1G>A
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.855+1G>C
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.855+4_855+7del
|
rs2123625716
|
|
NM_001849.4(COL6A2):c.856-1G>T
|
|
|
NM_001849.4(COL6A2):c.856-2A>G
|
rs886044466
|
|
NM_001849.4(COL6A2):c.856G>T (p.Gly286Ter)
|
|
|
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu)
|
rs727502827
|
|
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val)
|
rs886043554
|
|
NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser)
|
rs727502828
|
|
NM_001849.4(COL6A2):c.874G>C (p.Gly292Arg)
|
rs727502828
|
|
NM_001849.4(COL6A2):c.875G>A (p.Gly292Asp)
|
|
|
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val)
|
rs794727855
|
|
NM_001849.4(COL6A2):c.884G>A (p.Gly295Glu)
|
rs2123626138
|
|
NM_001849.4(COL6A2):c.884G>T (p.Gly295Val)
|
rs2123626138
|
|
NM_001849.4(COL6A2):c.892G>C (p.Gly298Arg)
|
rs797045478
|
|
NM_001849.4(COL6A2):c.900+1G>A
|
rs886044261
|
|
NM_001849.4(COL6A2):c.900+1G>T
|
|
|
NM_001849.4(COL6A2):c.901-6_903del
|
rs2123627113
|
|
NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser)
|
rs886042705
|
|
NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp)
|
rs1555872965
|
|
NM_001849.4(COL6A2):c.902G>T (p.Gly301Val)
|
rs1555872965
|
|
NM_001849.4(COL6A2):c.954G>A (p.Lys318=)
|
rs878854362
|
|
NM_001849.4(COL6A2):c.954G>C (p.Lys318Asn)
|
rs878854362
|
|
NM_001849.4(COL6A2):c.955-1G>A
|
rs886044265
|
|
NM_001849.4(COL6A2):c.955-1G>C
|
rs886044265
|
|
NM_001849.4(COL6A2):c.955-2del
|
rs2078477419
|
|
NM_001849.4(COL6A2):c.997A>T (p.Lys333Ter)
|
|
|
NM_001849.4(COL6A2):c.998del (p.Lys333fs)
|
rs2123628814
|
|
NM_001849.4(COL6A2):c.999+9_1053+32delinsGCTGAAGGAGGGGTGCAAACGGCCCTTACCCGGTTTCCAGGGTCTCCCTTGCAGCCTTCA
|
rs2123628848
|
|
NM_001927.4(DES):c.1013T>G (p.Leu338Arg)
|
rs57496341
|
|
NM_001927.4(DES):c.1013_1014delinsGC (p.Leu338Arg)
|
|
|
NM_001927.4(DES):c.1024A>G (p.Asn342Asp)
|
rs267607482
|
|
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
|
rs57639980
|
|
NM_001927.4(DES):c.1043A>C (p.Gln348Pro)
|
rs1411703397
|
|
NM_001927.4(DES):c.1049G>C (p.Arg350Pro)
|
rs57965306
|
|
NM_001927.4(DES):c.1090C>T (p.Gln364Ter)
|
rs1224165687
|
|
NM_001927.4(DES):c.1109T>C (p.Leu370Pro)
|
rs59308628
|
|
NM_001927.4(DES):c.112del (p.Ala38fs)
|
rs2125165857
|
|
NM_001927.4(DES):c.1132_1153del (p.Lys378fs)
|
rs1575014943
|
|
NM_001927.4(DES):c.1171del (p.Leu391fs)
|
|
|
NM_001927.4(DES):c.119dup (p.Gly41fs)
|
|
|
NM_001927.4(DES):c.1203G>C (p.Glu401Asp)
|
rs2125168897
|
|
NM_001927.4(DES):c.1213del (p.Tyr405fs)
|
rs886043080
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001927.4(DES):c.1255C>T (p.Pro419Ser)
|
rs62635763
|
|
NM_001927.4(DES):c.1256C>T (p.Pro419Leu)
|
rs796667045
|
|
NM_001927.4(DES):c.1325C>T (p.Thr442Ile)
|
rs121913005
|
|
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)
|
rs267607485
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.163C>T (p.Gln55Ter)
|
|
|
NM_001927.4(DES):c.194dup (p.Leu66fs)
|
rs1370206753
|
|
NM_001927.4(DES):c.249C>A (p.Tyr83Ter)
|
|
|
NM_001927.4(DES):c.300dup (p.Phe101fs)
|
|
|
NM_001927.4(DES):c.309del (p.Thr104fs)
|
rs2125166200
|
|
NM_001927.4(DES):c.343C>A (p.Leu115Ile)
|
|
|
NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer)
|
|
|
NM_001927.4(DES):c.347A>G (p.Asn116Ser)
|
rs267607499
|
|
NM_001927.4(DES):c.35C>T (p.Ser12Phe)
|
rs267607495
|
|
NM_001927.4(DES):c.373A>T (p.Lys125Ter)
|
rs886043000
|
|
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
|
rs62636495
|
|
NM_001927.4(DES):c.394C>T (p.Gln132Ter)
|
rs1060503165
|
|
NM_001927.4(DES):c.452_459del (p.Val151fs)
|
rs2125166454
|
|
NM_001927.4(DES):c.514C>T (p.Gln172Ter)
|
rs1559352440
|
|
NM_001927.4(DES):c.525_526del (p.Val176fs)
|
rs769096434
|
|
NM_001927.4(DES):c.525_526dup (p.Val176fs)
|
|
|
NM_001927.4(DES):c.549_564del (p.Leu184fs)
|
|
|
NM_001927.4(DES):c.599T>A (p.Leu200Ter)
|
rs2125167364
|
|
NM_001927.4(DES):c.5G>T (p.Ser2Ile)
|
rs58999456
|
|
NM_001927.4(DES):c.735+1G>A
|
rs397516698
|
|
NM_001927.4(DES):c.735+1G>T
|
rs397516698
|
|
NM_001927.4(DES):c.735+3A>G
|
rs267607483
|
|
NM_001927.4(DES):c.769C>T (p.Gln257Ter)
|
|
|
NM_001927.4(DES):c.7C>T (p.Gln3Ter)
|
rs1954358233
|
|
NM_001927.4(DES):c.973C>T (p.Arg325Ter)
|
rs959034410
|
|
NM_001927.4(DES):c.985C>T (p.Gln329Ter)
|
rs759320891
|
|
NM_003283.6(TNNT1):c.120dup (p.Lys41fs)
|
rs1555859304
|
|
NM_003283.6(TNNT1):c.415G>T (p.Glu139Ter)
|
rs1250741190
|
|
NM_003283.6(TNNT1):c.452del (p.Lys151fs)
|
rs2085385176
|
|
NM_003283.6(TNNT1):c.61dup (p.Glu21fs)
|
|
|
NM_003283.6(TNNT1):c.626G>A (p.Trp209Ter)
|
|
|
NM_003283.6(TNNT1):c.695dup (p.Leu233fs)
|
rs2085299661
|
|
NM_003283.6(TNNT1):c.78del (p.Glu27fs)
|
rs1224321111
|
|
NM_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer)
|
rs773840992
|
|
NM_004168.4(SDHA):c.1012del (p.Ala338fs)
|
rs1295239305
|
|
NM_004168.4(SDHA):c.1032_1033del (p.Arg345fs)
|
rs2126578081
|
|
NM_004168.4(SDHA):c.1035del (p.Ser346fs)
|
rs2126578126
|
|
NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs)
|
|
|
NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter)
|
|
|
NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter)
|
|
|
NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter)
|
rs1735691933
|
|
NM_004168.4(SDHA):c.1133dup (p.Arg379fs)
|
|
|
NM_004168.4(SDHA):c.1138del (p.Leu380fs)
|
|
|
NM_004168.4(SDHA):c.1245dup (p.Asn416fs)
|
rs2126585710
|
|
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs)
|
rs1385076821
|
|
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter)
|
rs1579407009
|
|
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
|
|
|
NM_004168.4(SDHA):c.1354del (p.Leu452fs)
|
|
|
NM_004168.4(SDHA):c.1396del (p.Ala466fs)
|
|
|
NM_004168.4(SDHA):c.1397dup (p.Cys467fs)
|
rs1735798915
|
|
NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter)
|
|
|
NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs)
|
|
|
NM_004168.4(SDHA):c.1438A>T (p.Lys480Ter)
|
|
|
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)
|
rs1554000360
|
|
NM_004168.4(SDHA):c.1470_1473dup (p.Ser492fs)
|
rs2126602655
|
|
NM_004168.4(SDHA):c.1477_1478del (p.Val493fs)
|
|
|
NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs)
|
|
|
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)
|
rs1064793567
|
|
NM_004168.4(SDHA):c.1526del (p.Ser509fs)
|
|
|
NM_004168.4(SDHA):c.1547dup (p.Lys517fs)
|
rs1554000378
|
|
NM_004168.4(SDHA):c.1552-2591A>G
|
|
|
NM_004168.4(SDHA):c.1558C>T (p.Gln520Ter)
|
rs2126631964
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter)
|
|
|
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter)
|
rs1560985916
|
|
NM_004168.4(SDHA):c.1615dup (p.Ile539fs)
|
rs1554001843
|
|
NM_004168.4(SDHA):c.1656del (p.Phe552fs)
|
rs1736795573
|
|
NM_004168.4(SDHA):c.1658_1661del (p.Asp553fs)
|
rs2126632404
|
|
NM_004168.4(SDHA):c.1663+1G>C
|
|
|
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu)
|
rs137852768
|
|
NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)
|
|
|
NM_004168.4(SDHA):c.1716dup (p.Leu573fs)
|
|
|
NM_004168.4(SDHA):c.171dup (p.Val58fs)
|
rs1553997323
|
|
NM_004168.4(SDHA):c.1741G>T (p.Gly581Ter)
|
|
|
NM_004168.4(SDHA):c.1743_1744del (p.Ala582fs)
|
rs2126633505
|
|
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
|
|
|
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs)
|
rs1561010916
|
|
NM_004168.4(SDHA):c.1764dup (p.Arg589fs)
|
rs2126633648
|
|
NM_004168.4(SDHA):c.17_18insA (p.Leu7fs)
|
|
|
NM_004168.4(SDHA):c.181G>T (p.Glu61Ter)
|
rs1734884330
|
|
NM_004168.4(SDHA):c.1846A>T (p.Lys616Ter)
|
|
|
NM_004168.4(SDHA):c.1A>C (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.1del (p.Met1fs)
|
rs1085307796
|
|
NM_004168.4(SDHA):c.214dup (p.Ala72fs)
|
rs1734887425
|
|
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter)
|
rs878854631
|
|
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer)
|
rs2126542910
|
|
NM_004168.4(SDHA):c.245_252del (p.Glu82fs)
|
rs1734890180
|
|
NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer)
|
rs1560986132
|
|
NM_004168.4(SDHA):c.267T>A (p.Cys89Ter)
|
rs1579381753
|
|
NM_004168.4(SDHA):c.28del (p.Leu10fs)
|
rs1579369841
|
|
NM_004168.4(SDHA):c.298_299del (p.Thr100fs)
|
rs2126543272
|
|
NM_004168.4(SDHA):c.2T>A (p.Met1Lys)
|
rs750380279
|
|
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)
|
rs750380279
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
NM_004168.4(SDHA):c.304dup (p.Ala102fs)
|
|
|
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter)
|
rs1423978863
|
|
NM_004168.4(SDHA):c.310_311dup (p.Gln104fs)
|
rs876658637
|
|
NM_004168.4(SDHA):c.322_323del (p.Asn108fs)
|
rs2126546657
|
|
NM_004168.4(SDHA):c.336del (p.Asn113fs)
|
|
|
NM_004168.4(SDHA):c.351del (p.Asp117fs)
|
|
|
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter)
|
rs1734957331
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
NM_004168.4(SDHA):c.392_396dup (p.Leu133fs)
|
rs2126547233
|
|
NM_004168.4(SDHA):c.3G>A (p.Met1Ile)
|
|
|
NM_004168.4(SDHA):c.3G>C (p.Met1Ile)
|
rs2126522051
|
|
NM_004168.4(SDHA):c.3G>T (p.Met1Ile)
|
rs2126522051
|
|
NM_004168.4(SDHA):c.403del (p.Asp135fs)
|
|
|
NM_004168.4(SDHA):c.447del (p.Val150fs)
|
rs2126547751
|
|
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter)
|
rs778737664
|
|
NM_004168.4(SDHA):c.457-1G>A
|
|
|
NM_004168.4(SDHA):c.457-2A>G
|
rs2126549179
|
|
NM_004168.4(SDHA):c.457-2_457del
|
rs878854632
|
|
NM_004168.4(SDHA):c.464del (p.Asn155fs)
|
|
|
NM_004168.4(SDHA):c.466del (p.Tyr156fs)
|
|
|
NM_004168.4(SDHA):c.467dup (p.Tyr156Ter)
|
rs2126549281
|
|
NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter)
|
rs989318548
|
|
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)
|
rs1560980939
|
|
NM_004168.4(SDHA):c.484del (p.Arg162fs)
|
rs1734988578
|
|
NM_004168.4(SDHA):c.508C>T (p.Gln170Ter)
|
rs1579385645
|
|
NM_004168.4(SDHA):c.514_517dup (p.Phe173fs)
|
|
|
NM_004168.4(SDHA):c.554dup (p.Ala186fs)
|
rs1173940446
|
|
NM_004168.4(SDHA):c.5C>A (p.Ser2Ter)
|
rs780064103
|
|
NM_004168.4(SDHA):c.5dup (p.Val4fs)
|
|
|
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)
|
rs876658486
|
|
NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs)
|
rs1579386206
|
|
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)
|
rs775143272
|
|
NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter)
|
rs1307665893
|
|
NM_004168.4(SDHA):c.64-2A>G
|
rs762456298
|
|
NM_004168.4(SDHA):c.644_645del (p.Tyr215fs)
|
rs1560989804
|
|
NM_004168.4(SDHA):c.65G>A (p.Trp22Ter)
|
rs2126539382
|
|
NM_004168.4(SDHA):c.667del (p.Asp223fs)
|
rs587782077
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.699del (p.Val234fs)
|
rs1175771583
|
|
NM_004168.4(SDHA):c.722_726del (p.Asp241fs)
|
rs1553998229
|
|
NM_004168.4(SDHA):c.757_758del (p.Val253fs)
|
rs1553998254
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.775del (p.Tyr259fs)
|
rs1553998606
|
|
NM_004168.4(SDHA):c.786del (p.Tyr263fs)
|
rs1553998613
|
|
NM_004168.4(SDHA):c.79C>T (p.Gln27Ter)
|
rs1734829878
|
|
NM_004168.4(SDHA):c.83dup (p.Gly29fs)
|
rs1734830402
|
|
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter)
|
rs1560992565
|
|
NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs)
|
rs1579402188
|
|
NM_004168.4(SDHA):c.943G>T (p.Gly315Ter)
|
|
|
NM_004168.4(SDHA):c.954del (p.Ile319fs)
|
|
|
NM_004168.4(SDHA):c.970G>T (p.Glu324Ter)
|
|
|
NM_004168.4(SDHA):c.988dup (p.Tyr330fs)
|
|
|
NM_004168.4(SDHA):c.989dup (p.Tyr330Ter)
|
|
|
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter)
|
|
|
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer)
|
rs886041867
|
|
NM_004168.4(SDHA):c.995_996del (p.Pro332fs)
|
rs1560994766
|
|
NM_004168.4(SDHA):c.99_108del (p.Phe33fs)
|
rs1734832099
|
|
NM_004281.4(BAG3):c.1009dup (p.Ile337fs)
|
|
|
NM_004281.4(BAG3):c.1013dup (p.Ile339fs)
|
|
|
NM_004281.4(BAG3):c.1031_1032del (p.Lys344fs)
|
rs1847237761
|
|
NM_004281.4(BAG3):c.1057C>T (p.Gln353Ter)
|
rs1847238300
|
|
NM_004281.4(BAG3):c.1057del (p.Gln353fs)
|
rs2134068813
|
|
NM_004281.4(BAG3):c.1067del (p.Pro356fs)
|
rs727505109
|
|
NM_004281.4(BAG3):c.1067dup (p.Pro357fs)
|
|
|
NM_004281.4(BAG3):c.1088_1708del (p.Glu363_Pro569del)
|
rs2134068860
|
|
NM_004281.4(BAG3):c.108G>A (p.Trp36Ter)
|
rs1846844070
|
|
NM_004281.4(BAG3):c.1161dup (p.Lys388fs)
|
rs1554877765
|
|
NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter)
|
rs117749531
|
|
NM_004281.4(BAG3):c.1292dup (p.Val432fs)
|
rs886039182
|
|
NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter)
|
|
|
NM_004281.4(BAG3):c.1326dup (p.Glu443Ter)
|
rs2134069217
|
|
NM_004281.4(BAG3):c.1348A>T (p.Lys450Ter)
|
rs765426544
|
|
NM_004281.4(BAG3):c.1353C>A (p.Tyr451Ter)
|
rs2134069248
|
|
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys)
|
rs397516881
|
|
NM_004281.4(BAG3):c.1408C>T (p.Pro470Ser)
|
rs756020699
|
|
NM_004281.4(BAG3):c.1414G>T (p.Gly472Ter)
|
|
|
NM_004281.4(BAG3):c.146G>A (p.Trp49Ter)
|
rs1564767043
|
|
NM_004281.4(BAG3):c.147G>A (p.Trp49Ter)
|
|
|
NM_004281.4(BAG3):c.160del (p.Val54fs)
|
|
|
NM_004281.4(BAG3):c.165del (p.Ser56fs)
|
rs2134050674
|
|
NM_004281.4(BAG3):c.206dup (p.Ser70fs)
|
rs1554876984
|
|
NM_004281.4(BAG3):c.258C>A (p.Tyr86Ter)
|
|
|
NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter)
|
rs1554876999
|
|
NM_004281.4(BAG3):c.262C>T (p.Gln88Ter)
|
rs1554877001
|
|
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter)
|
rs1057517945
|
|
NM_004281.4(BAG3):c.277dup (p.Tyr93fs)
|
rs1564773589
|
|
NM_004281.4(BAG3):c.280_284dup (p.Ile96fs)
|
|
|
NM_004281.4(BAG3):c.329dup (p.His112fs)
|
rs1344275862
|
|
NM_004281.4(BAG3):c.331_332del (p.Phe111fs)
|
rs2134063372
|
|
NM_004281.4(BAG3):c.346C>T (p.Gln116Ter)
|
|
|
NM_004281.4(BAG3):c.351_352insTGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGCGGCGGCGGCAGCCCAGCCCCCAGCCT (p.Gly118fs)
|
|
|
NM_004281.4(BAG3):c.358C>T (p.Gln120Ter)
|
|
|
NM_004281.4(BAG3):c.361C>T (p.Arg121Ter)
|
rs2134063421
|
|
NM_004281.4(BAG3):c.36_40del (p.Ala13fs)
|
|
|
NM_004281.4(BAG3):c.38_39dup (p.Ser14fs)
|
rs2134050486
|
|
NM_004281.4(BAG3):c.403C>T (p.Gln135Ter)
|
rs1847126002
|
|
NM_004281.4(BAG3):c.434_437del (p.Thr145fs)
|
|
|
NM_004281.4(BAG3):c.448C>T (p.Gln150Ter)
|
|
|
NM_004281.4(BAG3):c.448_449del (p.Gln150fs)
|
|
|
NM_004281.4(BAG3):c.457C>T (p.Gln153Ter)
|
rs1474660052
|
|
NM_004281.4(BAG3):c.488del (p.Pro163fs)
|
rs1847128695
|
|
NM_004281.4(BAG3):c.514C>T (p.Gln172Ter)
|
rs1589630001
|
|
NM_004281.4(BAG3):c.530_531del (p.Ala176_Ser177insTer)
|
rs2134064943
|
|
NM_004281.4(BAG3):c.537C>A (p.Cys179Ter)
|
rs1564774433
|
|
NM_004281.4(BAG3):c.598C>T (p.Gln200Ter)
|
rs2134065052
|
|
NM_004281.4(BAG3):c.607dup (p.Arg203fs)
|
rs1554877224
|
|
NM_004281.4(BAG3):c.612del (p.Tyr205fs)
|
rs2134065084
|
|
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)
|
rs1589630141
|
|
NM_004281.4(BAG3):c.626C>A (p.Pro209Gln)
|
rs121918312
|
|
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)
|
rs121918312
|
|
NM_004281.4(BAG3):c.640C>T (p.Gln214Ter)
|
rs2134065136
|
|
NM_004281.4(BAG3):c.654del (p.Pro219fs)
|
rs2134065158
|
|
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter)
|
rs876661342
|
|
NM_004281.4(BAG3):c.720C>G (p.Tyr240Ter)
|
|
|
NM_004281.4(BAG3):c.727dup (p.His243fs)
|
|
|
NM_004281.4(BAG3):c.72del (p.Gly25fs)
|
rs727502897
|
|
NM_004281.4(BAG3):c.72dup (p.Gly25fs)
|
rs727502897
|
|
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter)
|
rs876657634
|
|
NM_004281.4(BAG3):c.751C>T (p.Gln251Ter)
|
rs1343231277
|
|
NM_004281.4(BAG3):c.751del (p.Gln251fs)
|
rs1847165958
|
|
NM_004281.4(BAG3):c.765G>A (p.Trp255Ter)
|
rs1564774668
|
|
NM_004281.4(BAG3):c.766G>T (p.Glu256Ter)
|
rs2134065278
|
|
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)
|
rs1554875409
|
|
NM_004281.4(BAG3):c.803C>A (p.Ser268Ter)
|
|
|
NM_004281.4(BAG3):c.811C>T (p.Gln271Ter)
|
rs2134065350
|
|
NM_004281.4(BAG3):c.824del (p.Ser275fs)
|
rs2134065363
|
|
NM_004281.4(BAG3):c.855_859dup (p.Leu287fs)
|
rs1057518511
|
|
NM_004281.4(BAG3):c.907C>T (p.Gln303Ter)
|
|
|
NM_004281.4(BAG3):c.910C>T (p.Gln304Ter)
|
rs2134068635
|
|
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)
|
rs869248137
|
|
NM_004281.4(BAG3):c.946C>T (p.Gln316Ter)
|
rs1847236072
|
|
NM_004281.4(BAG3):c.969_972del (p.Lys324fs)
|
rs1589632398
|
|
NM_004281.4(BAG3):c.96_97del (p.Gln33fs)
|
|
|
NM_004281.4(BAG3):c.974del (p.Pro325fs)
|
rs1847236575
|
|
NM_004369.4(COL6A3):c.1234C>T (p.Gln412Ter)
|
|
|
NM_004369.4(COL6A3):c.1699C>T (p.Gln567Ter)
|
rs1559261557
|
|
NM_004369.4(COL6A3):c.1699_1703del (p.Gln567fs)
|
|
|
NM_004369.4(COL6A3):c.179_180del (p.Glu60fs)
|
|
|
NM_004369.4(COL6A3):c.181_182insAG (p.Phe61Ter)
|
|
|
NM_004369.4(COL6A3):c.183del (p.Leu62fs)
|
rs764524653
|
|
NM_004369.4(COL6A3):c.1940C>A (p.Ser647Ter)
|
rs2106367443
|
|
NM_004369.4(COL6A3):c.217G>T (p.Glu73Ter)
|
|
|
NM_004369.4(COL6A3):c.2250del (p.Thr751fs)
|
|
|
NM_004369.4(COL6A3):c.2367del (p.Ile789fs)
|
rs2106366689
|
|
NM_004369.4(COL6A3):c.2431C>T (p.Gln811Ter)
|
rs1574719512
|
|
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)
|
rs761796175
|
|
NM_004369.4(COL6A3):c.2620C>T (p.Arg874Ter)
|
rs1553561409
|
|
NM_004369.4(COL6A3):c.3400C>T (p.Gln1134Ter)
|
rs2106361236
|
|
NM_004369.4(COL6A3):c.3504dup (p.Asn1169fs)
|
|
|
NM_004369.4(COL6A3):c.399del (p.Ala134fs)
|
rs2106388332
|
|
NM_004369.4(COL6A3):c.4124del (p.Gln1375fs)
|
rs886042447
|
|
NM_004369.4(COL6A3):c.4390C>T (p.Arg1464Ter)
|
rs912671116
|
|
NM_004369.4(COL6A3):c.4427_4434del (p.Gly1476fs)
|
|
|
NM_004369.4(COL6A3):c.4533del (p.Ser1512fs)
|
|
|
NM_004369.4(COL6A3):c.4744G>T (p.Glu1582Ter)
|
|
|
NM_004369.4(COL6A3):c.4899del (p.Glu1634fs)
|
rs2077607833
|
|
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)
|
rs121434553
|
|
NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter)
|
|
|
NM_004369.4(COL6A3):c.5311del (p.Val1771fs)
|
|
|
NM_004369.4(COL6A3):c.5480del (p.Gly1827fs)
|
rs777304794
|
|
NM_004369.4(COL6A3):c.5581A>T (p.Lys1861Ter)
|
|
|
NM_004369.4(COL6A3):c.5946dup (p.Glu1983Ter)
|
|
|
NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter)
|
|
|
NM_004369.4(COL6A3):c.6114dup (p.Gln2039fs)
|
rs2106344225
|
|
NM_004369.4(COL6A3):c.6156+1G>A
|
rs1553554298
|
|
NM_004369.4(COL6A3):c.6156+1G>T
|
rs1553554298
|
|
NM_004369.4(COL6A3):c.6156G>T (p.Lys2052Asn)
|
rs398124125
|
|
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
|
|
|
NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg)
|
rs397515332
|
|
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)
|
rs760446904
|
|
NM_004369.4(COL6A3):c.6210+1G>A
|
rs398124126
|
|
NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp)
|
rs886043737
|
|
NM_004369.4(COL6A3):c.6212_6309+28del
|
rs1553553313
|
|
NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser)
|
rs886044252
|
|
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp)
|
rs1553553646
|
|
NM_004369.4(COL6A3):c.6230G>T (p.Gly2077Val)
|
rs1553553646
|
|
NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp)
|
rs794727188
|
|
NM_004369.4(COL6A3):c.6282+1G>A
|
rs398124128
|
|
NM_004369.4(COL6A3):c.6283-15C>A
|
|
|
NM_004369.4(COL6A3):c.6283-1G>A
|
rs2106341460
|
|
NM_004369.4(COL6A3):c.6308A>G (p.Lys2103Arg)
|
rs1574975203
|
|
NM_004369.4(COL6A3):c.6309+1G>A
|
rs886043919
|
|
NM_004369.4(COL6A3):c.6309+1G>T
|
rs886043919
|
|
NM_004369.4(COL6A3):c.6309G>A (p.Lys2103=)
|
rs1574975196
|
|
NM_004369.4(COL6A3):c.6309_6309+1del
|
rs2077385886
|
|
NM_004369.4(COL6A3):c.6310-2A>G
|
rs1559225993
|
|
NM_004369.4(COL6A3):c.6354+1G>A
|
rs886042883
|
|
NM_004369.4(COL6A3):c.6354+1G>T
|
rs886042883
|
|
NM_004369.4(COL6A3):c.6355-2dup
|
rs2077379376
|
|
NM_004369.4(COL6A3):c.6618dup (p.Gly2207fs)
|
|
|
NM_004369.4(COL6A3):c.6930+5G>A
|
rs749037028
|
|
NM_004369.4(COL6A3):c.7112del (p.Gly2371fs)
|
rs1323862623
|
|
NM_004369.4(COL6A3):c.7174+1del
|
rs2106325341
|
|
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)
|
rs878854379
|
|
NM_004369.4(COL6A3):c.761del (p.Gly254fs)
|
rs780921503
|
|
NM_004369.4(COL6A3):c.7648C>T (p.Gln2550Ter)
|
rs2106324666
|
|
NM_004369.4(COL6A3):c.7666C>T (p.Gln2556Ter)
|
rs2077054122
|
|
NM_004369.4(COL6A3):c.7796_7797del (p.Phe2599fs)
|
rs886042623
|
|
NM_004369.4(COL6A3):c.792_795del (p.Phe264fs)
|
|
|
NM_004369.4(COL6A3):c.8281C>T (p.Gln2761Ter)
|
rs2076967147
|
|
NM_004369.4(COL6A3):c.8430dup (p.Arg2811fs)
|
|
|
NM_004369.4(COL6A3):c.865G>T (p.Glu289Ter)
|
rs767654047
|
|
NM_004369.4(COL6A3):c.8931del (p.Ala2978fs)
|
rs1553544667
|
|
NM_004369.4(COL6A3):c.9160_9163dup (p.His3055fs)
|
rs2106312317
|
|
NM_004369.4(COL6A3):c.9384G>A (p.Trp3128Ter)
|
rs1405374416
|
|
NM_004370.5(COL12A1):c.7356del
|
rs1473576494
|
|
NM_004370.6(COL12A1):c.27_42del (p.Ala10fs)
|
rs2149492561
|
|
NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter)
|
rs1582139761
|
|
NM_004370.6(COL12A1):c.3994del (p.Ala1332fs)
|
rs1554182935
|
|
NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs)
|
rs1582133194
|
|
NM_004370.6(COL12A1):c.4177del (p.Ile1393fs)
|
rs1767314344
|
|
NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter)
|
|
|
NM_004370.6(COL12A1):c.4231_4232del (p.Ser1411fs)
|
|
|
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)
|
rs1767310072
|
|
NM_004370.6(COL12A1):c.4245T>A (p.Tyr1415Ter)
|
|
|
NM_004370.6(COL12A1):c.4282C>T (p.Gln1428Ter)
|
|
|
NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter)
|
rs1562223444
|
|
NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs)
|
rs1767268002
|
|
NM_004370.6(COL12A1):c.4924G>T (p.Glu1642Ter)
|
|
|
NM_004370.6(COL12A1):c.4973dup (p.Thr1659fs)
|
|
|
NM_004370.6(COL12A1):c.5019del (p.Thr1674fs)
|
|
|
NM_004370.6(COL12A1):c.5269C>T (p.Arg1757Ter)
|
|
|
NM_004370.6(COL12A1):c.54del (p.Ser19fs)
|
|
|
NM_004370.6(COL12A1):c.5823del (p.Val1942fs)
|
|
|
NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)
|
|
|
NM_004370.6(COL12A1):c.6094A>T (p.Arg2032Ter)
|
|
|
NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter)
|
rs767845062
|
|
NM_004370.6(COL12A1):c.6165C>A (p.Tyr2055Ter)
|
|
|
NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter)
|
rs1765909471
|
|
NM_004370.6(COL12A1):c.6737_6812del (p.Gln2246fs)
|
rs2149373593
|
|
NM_004370.6(COL12A1):c.6819del (p.Phe2273fs)
|
rs1765881602
|
|
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)
|
rs796052093
|
|
NM_004370.6(COL12A1):c.7085del (p.Gln2362fs)
|
rs2149369481
|
|
NM_004370.6(COL12A1):c.7348C>T (p.Gln2450Ter)
|
|
|
NM_004370.6(COL12A1):c.7377del (p.Val2460fs)
|
|
|
NM_004370.6(COL12A1):c.7637del (p.Ser2546fs)
|
|
|
NM_004370.6(COL12A1):c.7840+1G>A
|
rs875989819
|
|
NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs)
|
rs1582068925
|
|
NM_004370.6(COL12A1):c.8100+1G>C
|
|
|
NM_004370.6(COL12A1):c.8100+2T>C
|
rs1768702301
|
|
NM_004370.6(COL12A1):c.8100+2T>G
|
|
|
NM_004370.6(COL12A1):c.8100+3_8100+6del
|
rs2149352927
|
|
NM_004370.6(COL12A1):c.8108del (p.Ile2703fs)
|
|
|
NM_004370.6(COL12A1):c.8366del (p.Gly2789fs)
|
|
|
NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter)
|
rs1768358162
|
|
NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter)
|
rs984314526
|
|
NM_004370.6(COL12A1):c.8571del (p.Pro2858fs)
|
rs2149337320
|
|
NM_004370.6(COL12A1):c.8577+1del
|
|
|
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter)
|
rs371399251
|
|
NM_004370.6(COL12A1):c.8740del (p.Gln2914fs)
|
|
|
NM_004370.6(COL12A1):c.8759_8762del (p.Met2920fs)
|
|
|
NM_006063.3(KLHL41):c.1044T>G (p.Tyr348Ter)
|
|
|
NM_006063.3(KLHL41):c.1296del (p.Lys432fs)
|
rs1288106608
|
|
NM_006063.3(KLHL41):c.1307_1308del (p.Lys436fs)
|
rs2105309832
|
|
NM_006063.3(KLHL41):c.1416dup (p.Gly473fs)
|
rs749464576
|
|
NM_006063.3(KLHL41):c.1425G>A (p.Trp475Ter)
|
|
|
NM_006063.3(KLHL41):c.155_159del (p.Ser52fs)
|
|
|
NM_006063.3(KLHL41):c.1566G>A (p.Trp522Ter)
|
rs2105312506
|
|
NM_006063.3(KLHL41):c.1632_1633del (p.Tyr545fs)
|
|
|
NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer)
|
rs1247404453
|
|
NM_006063.3(KLHL41):c.1690G>T (p.Glu564Ter)
|
rs2105312600
|
|
NM_006063.3(KLHL41):c.215del (p.Lys72fs)
|
rs775513051
|
|
NM_006063.3(KLHL41):c.215dup (p.Glu73fs)
|
rs775513051
|
|
NM_006063.3(KLHL41):c.468dup (p.Phe157fs)
|
|
|
NM_006063.3(KLHL41):c.756_757insT (p.Lys253Ter)
|
|
|
NM_006063.3(KLHL41):c.930_939del (p.Asn310fs)
|
rs1574349645
|
|
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)
|
rs121908461
|
|
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)
|
rs121908457
|
|
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)
|
rs28937597
|
|
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys)
|
rs121908458
|
|
NM_007078.3(LDB3):c.1074dup (p.Asp359fs)
|
|
|
NM_007078.3(LDB3):c.1086-247_1231+2del
|
rs1564653469
|
|
NM_007078.3(LDB3):c.1343del (p.Ser448fs)
|
|
|
NM_007078.3(LDB3):c.1773del (p.Glu592fs)
|
rs776530913
|
|
NM_007078.3(LDB3):c.548del (p.Pro183fs)
|
rs1285270306
|
|
NM_007078.3(LDB3):c.59dup (p.Lys21fs)
|
|
|
NM_017534.6(MYH2):c.1719del (p.Gly574fs)
|
rs2073494828
|
|
NM_017534.6(MYH2):c.1933_1940dup (p.Ser648fs)
|
|
|
NM_017534.6(MYH2):c.2176C>T (p.Gln726Ter)
|
|
|
NM_017534.6(MYH2):c.2219_2220del (p.Gln740fs)
|
|
|
NM_017534.6(MYH2):c.2365del (p.Gln789fs)
|
rs2142305450
|
|
NM_017534.6(MYH2):c.2418del (p.Glu806fs)
|
|
|
NM_017534.6(MYH2):c.2461C>T (p.Gln821Ter)
|
rs2142303605
|
|
NM_017534.6(MYH2):c.2672dup (p.Asn891fs)
|
rs763860580
|
|
NM_017534.6(MYH2):c.2956dup (p.Glu986fs)
|
|
|
NM_017534.6(MYH2):c.3014del (p.Leu1005fs)
|
rs1567730339
|
|
NM_017534.6(MYH2):c.3019G>T (p.Glu1007Ter)
|
rs1226690028
|
|
NM_017534.6(MYH2):c.3126del (p.Ser1043fs)
|
|
|
NM_017534.6(MYH2):c.3205del (p.Gln1069fs)
|
rs2142299866
|
|
NM_017534.6(MYH2):c.3467_3476del (p.Leu1156fs)
|
|
|
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter)
|
rs1187271694
|
|
NM_017534.6(MYH2):c.3697G>T (p.Glu1233Ter)
|
|
|
NM_017534.6(MYH2):c.3757A>T (p.Lys1253Ter)
|
rs2142297044
|
|
NM_017534.6(MYH2):c.4302_4303insG (p.Met1435fs)
|
|
|
NM_017534.6(MYH2):c.430C>T (p.Arg144Ter)
|
|
|
NM_017534.6(MYH2):c.4352del (p.Lys1451fs)
|
rs757195322
|
|
NM_017534.6(MYH2):c.4371+1del
|
|
|
NM_017534.6(MYH2):c.4420G>T (p.Glu1474Ter)
|
|
|
NM_017534.6(MYH2):c.4438del (p.Ala1480fs)
|
rs2073340697
|
|
NM_017534.6(MYH2):c.4510del (p.Thr1503_Leu1504insTer)
|
|
|
NM_017534.6(MYH2):c.4511del (p.Leu1504fs)
|
rs2142293598
|
|
NM_017534.6(MYH2):c.4756del (p.Asp1586fs)
|
|
|
NM_017534.6(MYH2):c.4810C>T (p.Gln1604Ter)
|
rs772613828
|
|
NM_017534.6(MYH2):c.4842del (p.Asn1615fs)
|
rs2073330917
|
|
NM_017534.6(MYH2):c.4894G>T (p.Glu1632Ter)
|
|
|
NM_017534.6(MYH2):c.5332del (p.Glu1778fs)
|
|
|
NM_017534.6(MYH2):c.5554C>T (p.Arg1852Ter)
|
|
|
NM_017534.6(MYH2):c.5594_5597del (p.Lys1865fs)
|
rs1567726515
|
|
NM_017534.6(MYH2):c.5673+1G>C
|
rs1400481053
|
|
NM_017534.6(MYH2):c.732_738dup (p.Phe247fs)
|
|
|
NM_017534.6(MYH2):c.904+1G>A
|
rs879255253
|
|
NM_020451.2(SELENON):c.-55_183del
|
rs1572226620
|
|
NM_020451.2(SELENON):c.-64_36del
|
rs1572226578
|
|
NM_020451.3(SELENON):c.*1107T>C
|
rs2048015293
|
|
NM_020451.3(SELENON):c.-10_135del (p.Met1fs)
|
|
|
NM_020451.3(SELENON):c.-11_81del (p.Met1fs)
|
rs1557813850
|
|
NM_020451.3(SELENON):c.-21_183+6del
|
|
|
NM_020451.3(SELENON):c.-26_12del (p.Met1fs)
|
rs2047846279
|
|
NM_020451.3(SELENON):c.-30_64del (p.Met1fs)
|
|
|
NM_020451.3(SELENON):c.1086dup (p.Pro363fs)
|
rs2124450830
|
|
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter)
|
rs747284477
|
|
NM_020451.3(SELENON):c.1189C>T (p.Gln397Ter)
|
|
|
NM_020451.3(SELENON):c.1282-1G>T
|
|
|
NM_020451.3(SELENON):c.1314_1317del (p.Asp438fs)
|
rs2124452873
|
|
NM_020451.3(SELENON):c.1332_1334del (p.Asn444del)
|
rs1553120691
|
|
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)
|
rs797044621
|
|
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln)
|
rs779162837
|
|
NM_020451.3(SELENON):c.142del (p.Val48fs)
|
|
|
NM_020451.3(SELENON):c.160G>T (p.Glu54Ter)
|
rs2047850525
|
|
NM_020451.3(SELENON):c.166C>T (p.Gln56Ter)
|
rs1557814050
|
|
NM_020451.3(SELENON):c.180del (p.Gln61fs)
|
rs1557814066
|
|
NM_020451.3(SELENON):c.18_46del (p.Gly7fs)
|
rs2124436429
|
|
NM_020451.3(SELENON):c.19_47dup (p.Ala18fs)
|
rs2047848157
|
|
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs)
|
rs1553198611
|
|
NM_020451.3(SELENON):c.2T>C (p.Met1Thr)
|
rs1174570887
|
|
NM_020451.3(SELENON):c.2T>G (p.Met1Arg)
|
rs1174570887
|
|
NM_020451.3(SELENON):c.404-1G>A
|
rs1005071009
|
|
NM_020451.3(SELENON):c.44_72dup (p.Arg25fs)
|
rs797044620
|
|
NM_020451.3(SELENON):c.572G>A (p.Trp191Ter)
|
rs2047929645
|
|
NM_020451.3(SELENON):c.643del (p.Gln215fs)
|
rs2047931126
|
|
NM_020451.3(SELENON):c.665G>A (p.Trp222Ter)
|
rs1553120047
|
|
NM_020451.3(SELENON):c.683_689dup (p.Met230fs)
|
rs1553120055
|
|
NM_020451.3(SELENON):c.700_701insC (p.Tyr234fs)
|
rs2124447526
|
|
NM_020451.3(SELENON):c.713dup (p.Asn238fs)
|
rs368104077
|
|
NM_020451.3(SELENON):c.746_747+36del
|
rs2047932848
|
|
NM_020451.3(SELENON):c.863_864del (p.Val288fs)
|
rs1184282261
|
|
NM_020451.3(SELENON):c.890_981dup (p.Asp328fs)
|
|
|
NM_020451.3(SELENON):c.8_12dup (p.Arg5fs)
|
rs1572226744
|
|
NM_020451.3(SELENON):c.8_9insTGCCGGGCCG (p.Arg5fs)
|
rs2124436380
|
|
NM_020451.3(SELENON):c.921G>A (p.Trp307Ter)
|
rs1553120202
|
|
NM_020451.3(SELENON):c.963dup (p.Asp322fs)
|
|
|
NM_020451.3(SELENON):c.997_1000del (p.Val333fs)
|
rs886041686
|
|
NM_020451.3(SELENON):c.9_33del (p.Ala4fs)
|
rs886041619
|
|
NM_032790.4(ORAI1):c.208_209del (p.Ser70fs)
|
|
|
NM_032790.4(ORAI1):c.319G>A (p.Val107Met)
|
rs2136852410
|
|
NM_138638.5(CFL2):c.100_103del (p.Lys34fs)
|
rs1885387438
|
|
NM_138638.5(CFL2):c.154_157del (p.Ala52fs)
|
|
|
NM_138638.5(CFL2):c.4-115A>C
|
|
|
NM_138638.5(CFL2):c.4-115A>G
|
|
|
NM_145064.3(STAC3):c.297_301del (p.Pro100fs)
|
|
|
NM_145064.3(STAC3):c.383_399del (p.His128fs)
|
rs1555194630
|
|
NM_145064.3(STAC3):c.468_469del (p.Tyr157fs)
|
|
|
NM_145064.3(STAC3):c.694del (p.Ala232fs)
|
rs774555559
|
|
NM_145064.3(STAC3):c.763_766del (p.Leu255fs)
|
rs773050511
|
|
NM_145064.3(STAC3):c.816_817del (p.Lys273fs)
|
|
|
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)
|
rs1571418855
|
|
NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)
|
|
|
NM_152263.4(TPM3):c.455C>T (p.Ala152Val)
|
rs1553249076
|
|
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)
|
rs121964854
|
|
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)
|
rs121964854
|
|
NM_152263.4(TPM3):c.503G>A (p.Arg168His)
|
rs121964852
|
|
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)
|
rs727504181
|
|
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys)
|
rs1553248515
|
|
NM_152263.4(TPM3):c.87_91del (p.Gln30fs)
|
rs2148295371
|
|
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)
|
rs80358248
|
|
NM_152393.4(KLHL40):c.1292C>A (p.Ser431Ter)
|
|
|
NM_152393.4(KLHL40):c.1395C>A (p.Tyr465Ter)
|
rs139588377
|
|
NM_152393.4(KLHL40):c.1450dup (p.Asp484fs)
|
|
|
NM_152393.4(KLHL40):c.1608-1G>A
|
rs2125846068
|
|
NM_152393.4(KLHL40):c.1608-1G>C
|
|
|
NM_152393.4(KLHL40):c.173del (p.Phe58fs)
|
rs1697260724
|
|
NM_152393.4(KLHL40):c.205_214del (p.Ala69fs)
|
rs2125844554
|
|
NM_152393.4(KLHL40):c.211G>T (p.Glu71Ter)
|
rs375331819
|
|
NM_152393.4(KLHL40):c.223G>T (p.Glu75Ter)
|
rs2125844563
|
|
NM_152393.4(KLHL40):c.275C>G (p.Ser92Ter)
|
|
|
NM_152393.4(KLHL40):c.544_545del (p.Ser182fs)
|
rs1384412486
|
|
NM_152393.4(KLHL40):c.58C>T (p.Gln20Ter)
|
rs1292866391
|
|
NM_152393.4(KLHL40):c.631del (p.Ala211fs)
|
rs752734208
|
|
NM_152393.4(KLHL40):c.818dup (p.Lys275fs)
|
rs1575218831
|
|
NM_152393.4(KLHL40):c.928del (p.Leu310fs)
|
rs1055019439
|
|
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)
|
rs763283033
|
|
NM_198271.5(LMOD3):c.102del (p.Glu34fs)
|
rs2092412254
|
|
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs)
|
rs727502799
|
|
NM_198271.5(LMOD3):c.112G>T (p.Glu38Ter)
|
|
|
NM_198271.5(LMOD3):c.1192del (p.Arg398fs)
|
rs2107526137
|
|
NM_198271.5(LMOD3):c.1219C>T (p.Gln407Ter)
|
rs2107526111
|
|
NM_198271.5(LMOD3):c.1330C>T (p.Gln444Ter)
|
|
|
NM_198271.5(LMOD3):c.1472dup (p.Arg492fs)
|
rs2107525795
|
|
NM_198271.5(LMOD3):c.154del (p.Gly51_Met52insTer)
|
rs1369933918
|
|
NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe)
|
rs1057519128
|
|
NM_198271.5(LMOD3):c.278_288del (p.Thr93fs)
|
|
|
NM_198271.5(LMOD3):c.362_366del (p.Glu121fs)
|
rs1274699363
|
|
NM_198271.5(LMOD3):c.476del (p.Gly159fs)
|
rs1426709672
|
|
NM_198271.5(LMOD3):c.637dup (p.Ile213fs)
|
|
|
NM_198271.5(LMOD3):c.704C>G (p.Ser235Ter)
|
rs2092396963
|
|
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs)
|
rs769824247
|
|
NM_198271.5(LMOD3):c.780del (p.Asn261fs)
|
|
|
NM_198271.5(LMOD3):c.80_95del (p.Asn26_Leu27insTer)
|
rs1212229943
|
|
NM_198271.5(LMOD3):c.882dup (p.Asp295fs)
|
|
|
NM_198271.5(LMOD3):c.971del (p.Gly324fs)
|
rs2107526351
|
|
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)
|
rs730880030
|
|
NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu)
|
rs2145927350
|
|
Single allele
|
|
|