|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
|
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)
|
rs74874677
|
0.01472
|
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
|
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)
|
rs36215895
|
0.00411
|
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
|
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)
|
rs121908601
|
0.00293
|
|
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)
|
rs151266052
|
0.00245
|
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
|
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)
|
rs35859650
|
0.00208
|
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs11394094
|
0.00159
|
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
|
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)
|
rs749838192
|
0.00091
|
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
|
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)
|
rs117209107
|
0.00072
|
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
|
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_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00049
|
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
|
NM_003051.4(SLC16A1):c.1414G>A (p.Gly472Arg)
|
rs72552271
|
0.00040
|
|
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)
|
rs146457619
|
0.00039
|
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
|
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)
|
rs121912682
|
0.00031
|
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
|
NM_078470.6(COX15):c.452C>G (p.Ser151Ter)
|
rs149718203
|
0.00030
|
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
|
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter)
|
rs756339822
|
0.00023
|
|
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)
|
rs371720347
|
0.00022
|
|
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)
|
rs199877522
|
0.00021
|
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
|
NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser)
|
rs200708284
|
0.00019
|
|
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)
|
rs121908603
|
0.00019
|
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
|
NM_017534.6(MYH2):c.2405T>A (p.Leu802Ter)
|
rs758395765
|
0.00018
|
|
NM_032237.5(POMK):c.136C>T (p.Arg46Ter)
|
rs202036744
|
0.00017
|
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00016
|
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
|
NM_001267052.2(UNC45B):c.2326C>T (p.Arg776Trp)
|
rs199583516
|
0.00016
|
|
NM_001848.3(COL6A1):c.1741-6G>A
|
rs200334019
|
0.00016
|
|
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter)
|
rs80358249
|
0.00016
|
|
NM_004130.4(GYG1):c.143+3G>C
|
rs370652040
|
0.00016
|
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
|
NM_001458.5(FLNC):c.970-4A>G
|
rs532143625
|
0.00015
|
|
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys)
|
rs200487396
|
0.00015
|
|
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)
|
rs375014127
|
0.00015
|
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
|
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)
|
rs80338802
|
0.00014
|
|
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)
|
rs142073798
|
0.00014
|
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
|
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)
|
rs376107921
|
0.00013
|
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
|
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)
|
rs886041302
|
0.00013
|
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
0.00013
|
|
NM_004614.5(TK2):c.323C>T (p.Thr108Met)
|
rs137854431
|
0.00013
|
|
NM_018116.4(MSTO1):c.706G>C (p.Asp236His)
|
rs753488873
|
0.00013
|
|
NM_213599.3(ANO5):c.1960C>T (p.Arg654Ter)
|
rs1488095558
|
0.00013
|
|
NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln)
|
rs139715157
|
0.00012
|
|
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)
|
rs769114543
|
0.00012
|
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
|
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)
|
rs74315511
|
0.00011
|
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
|
NM_005868.6(BET1):c.134del (p.Ala45fs)
|
rs541754296
|
0.00011
|
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
|
NM_078470.6(COX15):c.396-3C>G
|
rs200910834
|
0.00011
|
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
|
NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter)
|
rs967105970
|
0.00011
|
|
NM_000183.3(HADHB):c.1A>G (p.Met1Val)
|
rs763333945
|
0.00010
|
|
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)
|
rs756854513
|
0.00010
|
|
NM_000540.3(RYR1):c.10348-6C>G
|
rs193922837
|
0.00010
|
|
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)
|
rs149977726
|
0.00010
|
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00010
|
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00010
|
|
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly)
|
rs199501657
|
0.00010
|
|
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs)
|
rs761897806
|
0.00009
|
|
NM_000070.3(CAPN3):c.2362_2363insTC (p.Arg788fs)
|
rs80338804
|
0.00009
|
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
0.00009
|
|
NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00009
|
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
|
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)
|
rs144811578
|
0.00009
|
|
NM_024854.5(PYROXD1):c.285+1G>A
|
rs369083786
|
0.00009
|
|
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln)
|
rs139618850
|
0.00009
|
|
NM_213599.3(ANO5):c.1898+1G>A
|
rs142027093
|
0.00009
|
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00008
|
|
NM_001025389.2(AMPD3):c.1717C>T (p.Arg573Cys)
|
rs3741040
|
0.00008
|
|
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)
|
rs200056620
|
0.00008
|
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
|
NM_004614.5(TK2):c.416C>T (p.Ala139Val)
|
rs281865494
|
0.00008
|
|
NM_005198.5(CHKB):c.581G>A (p.Arg194Gln)
|
rs139818555
|
0.00008
|
|
NM_018116.4(MSTO1):c.836G>A (p.Arg279His)
|
rs563943670
|
0.00008
|
|
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)
|
rs752492870
|
0.00007
|
|
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter)
|
rs768768823
|
0.00007
|
|
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)
|
rs121913037
|
0.00007
|
|
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter)
|
rs141559558
|
0.00007
|
|
NM_005262.3(GFER):c.373C>T (p.Gln125Ter)
|
rs771809901
|
0.00007
|
|
NM_144988.4(ALG14):c.136+1G>C
|
rs150550220
|
0.00007
|
|
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)
|
rs767106920
|
0.00006
|
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
|
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)
|
rs201736037
|
0.00006
|
|
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)
|
rs121434548
|
0.00006
|
|
NM_000070.3(CAPN3):c.499-1G>A
|
rs863224964
|
0.00006
|
|
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp)
|
rs764006338
|
0.00006
|
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
|
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)
|
rs1374568851
|
0.00006
|
|
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)
|
rs794727594
|
0.00006
|
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00006
|
|
NM_001036.6(RYR3):c.8939G>T (p.Arg2980Leu)
|
rs200346049
|
0.00006
|
|
NM_001077365.2(POMT1):c.579_580del (p.Val195fs)
|
rs1032439203
|
0.00006
|
|
NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile)
|
rs746522359
|
0.00006
|
|
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00006
|
|
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_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
|
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter)
|
rs17854600
|
0.00006
|
|
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg)
|
rs781734780
|
0.00006
|
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
|
NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter)
|
rs200944917
|
0.00006
|
|
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter)
|
rs373091820
|
0.00006
|
|
NM_016213.5(TRIP4):c.950G>A (p.Arg317Gln)
|
rs200549601
|
0.00006
|
|
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
|
rs121908185
|
0.00006
|
|
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly)
|
rs200078740
|
0.00006
|
|
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)
|
rs142908436
|
0.00006
|
|
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter)
|
rs777172978
|
0.00006
|
|
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser)
|
rs367579275
|
0.00006
|
|
NM_213599.3(ANO5):c.41-1G>A
|
rs398124625
|
0.00006
|
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
|
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
|
rs200379491
|
0.00005
|
|
NM_000070.3(CAPN3):c.258dup (p.Leu87fs)
|
rs753360208
|
0.00005
|
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
|
NM_000183.3(HADHB):c.182G>A (p.Arg61His)
|
rs121913132
|
0.00005
|
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
|
NM_001100.4(ACTA1):c.436del (p.Ala146fs)
|
rs1395648272
|
0.00005
|
|
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)
|
rs397515398
|
0.00005
|
|
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)
|
rs398123799
|
0.00005
|
|
NM_001267550.2(TTN):c.86821+2T>A
|
rs397517735
|
0.00005
|
|
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His)
|
rs267606749
|
0.00005
|
|
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)
|
rs121913036
|
0.00005
|
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
|
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln)
|
rs750195772
|
0.00005
|
|
NM_007103.4(NDUFV1):c.1162+4A>C
|
rs199683937
|
0.00005
|
|
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys)
|
rs36038536
|
0.00005
|
|
NM_018116.4(MSTO1):c.1033C>T (p.Arg345Cys)
|
rs749922789
|
0.00005
|
|
NM_020451.3(SELENON):c.1A>G (p.Met1Val)
|
rs121908184
|
0.00005
|
|
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)
|
rs199922550
|
0.00005
|
|
NM_024301.5(FKRP):c.1253G>A (p.Trp418Ter)
|
rs746533953
|
0.00005
|
|
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)
|
rs771466122
|
0.00005
|
|
NM_080916.3(DGUOK):c.591G>A (p.Gln197=)
|
rs748597500
|
0.00005
|
|
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys)
|
rs757479164
|
0.00005
|
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00004
|
|
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)
|
rs863224959
|
0.00004
|
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00004
|
|
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)
|
rs369784333
|
0.00004
|
|
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)
|
rs528417986
|
0.00004
|
|
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)
|
rs768407867
|
0.00004
|
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
|
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)
|
rs375329638
|
0.00004
|
|
NM_000231.3(SGCG):c.195+1G>C
|
rs200502077
|
0.00004
|
|
NM_000232.5(SGCB):c.1_2del (p.Met1fs)
|
rs886042503
|
0.00004
|
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
|
NM_000432.4(MYL2):c.403-1G>C
|
rs199474813
|
0.00004
|
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
|
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)
|
rs764262446
|
0.00004
|
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
|
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
0.00004
|
|
NM_001036.6(RYR3):c.2000A>G (p.Asp667Gly)
|
rs1314283337
|
0.00004
|
|
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)
|
rs794727208
|
0.00004
|
|
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
|
rs200763627
|
0.00004
|
|
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
|
rs398123787
|
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_001195518.2(MICU1):c.161+1G>A
|
rs375502236
|
0.00004
|
|
NM_001195518.2(MICU1):c.386G>C (p.Arg129Pro)
|
rs375664373
|
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_001368067.1(LDB3):c.802C>T (p.Arg268Cys)
|
rs121908335
|
0.00004
|
|
NM_001953.5(TYMP):c.1160-1G>A
|
rs797044455
|
0.00004
|
|
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr)
|
rs752137335
|
0.00004
|
|
NM_001953.5(TYMP):c.215-1G>C
|
rs767245071
|
0.00004
|
|
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser)
|
rs121913040
|
0.00004
|
|
NM_002693.3(POLG):c.1433+1G>A
|
rs771623994
|
0.00004
|
|
NM_002693.3(POLG):c.3104+3A>T
|
rs778573169
|
0.00004
|
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
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_004393.6(DAG1):c.220G>A (p.Val74Ile)
|
rs189360006
|
0.00004
|
|
NM_004618.5(TOP3A):c.298A>G (p.Met100Val)
|
rs376902371
|
0.00004
|
|
NM_005138.3(SCO2):c.157C>T (p.Gln53Ter)
|
rs74315510
|
0.00004
|
|
NM_005262.3(GFER):c.581G>A (p.Arg194His)
|
rs121908192
|
0.00004
|
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
|
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)
|
rs121913659
|
0.00004
|
|
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
|
rs28940869
|
0.00004
|
|
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)
|
rs267606960
|
0.00004
|
|
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)
|
rs193919336
|
0.00004
|
|
NM_018116.4(MSTO1):c.887_888del (p.Leu296fs)
|
rs752022363
|
0.00004
|
|
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)
|
rs622288
|
0.00004
|
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
|
NM_021942.6(TRAPPC11):c.2579del (p.Leu860fs)
|
rs1216637259
|
0.00004
|
|
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)
|
rs761714818
|
0.00004
|
|
NM_021971.4(GMPPB):c.953T>C (p.Val318Ala)
|
rs559784211
|
0.00004
|
|
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)
|
rs758759348
|
0.00004
|
|
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)
|
rs543163491
|
0.00004
|
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
|
NM_032237.5(POMK):c.773A>G (p.Gln258Arg)
|
rs397509386
|
0.00004
|
|
NM_078470.6(COX15):c.649C>T (p.Arg217Trp)
|
rs28939711
|
0.00004
|
|
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser)
|
rs763615602
|
0.00004
|
|
NM_182961.4(SYNE1):c.15918-12A>G
|
rs606231134
|
0.00004
|
|
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)
|
rs387906989
|
0.00004
|
|
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)
|
rs566415362
|
0.00004
|
|
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter)
|
rs368970223
|
0.00004
|
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
|
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys)
|
rs1287586310
|
0.00003
|
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
|
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter)
|
rs863224960
|
0.00003
|
|
NM_000070.3(CAPN3):c.1993-1G>A
|
rs369552114
|
0.00003
|
|
NM_000070.3(CAPN3):c.802-9G>A
|
rs761211705
|
0.00003
|
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
|
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)
|
rs886039030
|
0.00003
|
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
|
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
|
rs80338958
|
0.00003
|
|
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter)
|
rs145420388
|
0.00003
|
|
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)
|
rs398123373
|
0.00003
|
|
NM_000426.4(LAMA2):c.4960-17C>A
|
rs758048596
|
0.00003
|
|
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
|
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)
|
rs1209130981
|
0.00003
|
|
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)
|
rs368874586
|
0.00003
|
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
|
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr)
|
rs118192120
|
0.00003
|
|
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg)
|
rs761224660
|
0.00003
|
|
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00003
|
|
NM_001036.6(RYR3):c.6208A>G (p.Met2070Val)
|
rs769938343
|
0.00003
|
|
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)
|
rs121909523
|
0.00003
|
|
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter)
|
rs370627877
|
0.00003
|
|
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)
|
rs200916654
|
0.00003
|
|
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)
|
rs727503911
|
0.00003
|
|
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs)
|
rs778065845
|
0.00003
|
|
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)
|
rs141497053
|
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_001195518.2(MICU1):c.52C>T (p.Arg18Ter)
|
rs746453954
|
0.00003
|
|
NM_001199563.2(BVES):c.1A>G (p.Met1Val)
|
rs1332603843
|
0.00003
|
|
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)
|
rs147879266
|
0.00003
|
|
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)
|
rs886042995
|
0.00003
|
|
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter)
|
rs769097909
|
0.00003
|
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
|
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter)
|
rs747469275
|
0.00003
|
|
NM_001267550.2(TTN):c.49648+2del
|
rs727504851
|
0.00003
|
|
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)
|
rs587780494
|
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_001953.5(TYMP):c.1159+1G>A
|
rs1044840059
|
0.00003
|
|
NM_001953.5(TYMP):c.856G>A (p.Glu286Lys)
|
rs866001342
|
0.00003
|
|
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter)
|
rs141365537
|
0.00003
|
|
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)
|
rs121918053
|
0.00003
|
|
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)
|
rs777578399
|
0.00003
|
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
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_004320.6(ATP2A1):c.1717C>T (p.Arg573Ter)
|
rs371058445
|
0.00003
|
|
NM_004320.6(ATP2A1):c.2371C>T (p.Gln791Ter)
|
rs895911431
|
0.00003
|
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
|
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)
|
rs1212623980
|
0.00003
|
|
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)
|
rs745517517
|
0.00003
|
|
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)
|
rs757523840
|
0.00003
|
|
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)
|
rs121908626
|
0.00003
|
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
|
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)
|
rs1236647498
|
0.00003
|
|
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)
|
rs1057516374
|
0.00003
|
|
NM_006790.3(MYOT):c.17G>A (p.Arg6His)
|
rs387906882
|
0.00003
|
|
NM_013382.7(POMT2):c.1006+1G>A
|
rs533916138
|
0.00003
|
|
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)
|
rs267606971
|
0.00003
|
|
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter)
|
rs750232956
|
0.00003
|
|
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
|
NM_020451.3(SELENON):c.1010+1G>A
|
rs908682527
|
0.00003
|
|
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys)
|
rs368074297
|
0.00003
|
|
NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter)
|
rs140403642
|
0.00003
|
|
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile)
|
rs202013297
|
0.00003
|
|
NM_021971.4(GMPPB):c.760G>A (p.Val254Met)
|
rs875989850
|
0.00003
|
|
NM_025207.5(FLAD1):c.568_569dup (p.Val191fs)
|
rs876661310
|
0.00003
|
|
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)
|
rs104894371
|
0.00003
|
|
NM_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs)
|
rs747569790
|
0.00003
|
|
NM_080916.3(DGUOK):c.444-11C>G
|
rs536746349
|
0.00003
|
|
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)
|
rs140614802
|
0.00003
|
|
NM_152328.5(ADSS1):c.919del (p.Ile307fs)
|
rs559454746
|
0.00003
|
|
NM_152393.4(KLHL40):c.602G>A (p.Trp201Ter)
|
rs397509420
|
0.00003
|
|
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)
|
rs770987150
|
0.00003
|
|
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter)
|
rs199754807
|
0.00003
|
|
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg)
|
rs780209390
|
0.00003
|
|
NM_213595.4(ISCU):c.149G>A (p.Gly50Glu)
|
rs267607190
|
0.00003
|
|
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys)
|
rs137854527
|
0.00003
|
|
NM_213599.3(ANO5):c.2176dup (p.Ser726fs)
|
rs797044667
|
0.00003
|
|
NM_213599.3(ANO5):c.762+1G>A
|
rs372221490
|
0.00003
|
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
|
NM_000023.4(SGCA):c.197T>A (p.Leu66His)
|
rs767928766
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)
|
rs80338778
|
0.00002
|
|
NM_000070.3(CAPN3):c.1800+2T>C
|
rs748194118
|
0.00002
|
|
NM_000070.3(CAPN3):c.1801-1G>A
|
rs886043752
|
0.00002
|
|
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)
|
rs768090444
|
0.00002
|
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
|
NM_000070.3(CAPN3):c.2440-1G>A
|
rs886044052
|
0.00002
|
|
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)
|
rs758795961
|
0.00002
|
|
NM_000083.3(CLCN1):c.774+1G>A
|
rs776073429
|
0.00002
|
|
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_000231.3(SGCG):c.386-1G>A
|
rs913248720
|
0.00002
|
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00002
|
|
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys)
|
rs1365923535
|
0.00002
|
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
|
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)
|
rs377176361
|
0.00002
|
|
NM_000334.4(SCN4A):c.608T>A (p.Met203Lys)
|
rs933258893
|
0.00002
|
|
NM_000426.4(LAMA2):c.250C>T (p.Arg84Ter)
|
rs868019991
|
0.00002
|
|
NM_000426.4(LAMA2):c.283+1G>A
|
rs200288072
|
0.00002
|
|
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs)
|
rs886041297
|
0.00002
|
|
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)
|
rs369776766
|
0.00002
|
|
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)
|
rs758775001
|
0.00002
|
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
|
NM_000426.4(LAMA2):c.6207C>A (p.Tyr2069Ter)
|
rs143343647
|
0.00002
|
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
|
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)
|
rs749566145
|
0.00002
|
|
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs)
|
rs1293303410
|
0.00002
|
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
|
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)
|
rs193922803
|
0.00002
|
|
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter)
|
rs587777214
|
0.00002
|
|
NM_001077365.2(POMT1):c.1196del (p.Leu399fs)
|
rs768144522
|
0.00002
|
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
|
NM_001077365.2(POMT1):c.1698+1G>A
|
rs763586263
|
0.00002
|
|
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)
|
rs119462983
|
0.00002
|
|
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)
|
rs746696167
|
0.00002
|
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
|
NM_001100.4(ACTA1):c.84_85insT (p.Pro29fs)
|
rs753923758
|
0.00002
|
|
NM_001130987.2(DYSF):c.1149+1G>A
|
rs398123763
|
0.00002
|
|
NM_001130987.2(DYSF):c.1380+2T>C
|
rs398123765
|
0.00002
|
|
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter)
|
rs199543257
|
0.00002
|
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
|
NM_001130987.2(DYSF):c.3403-2A>G
|
rs370874727
|
0.00002
|
|
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)
|
rs757917335
|
0.00002
|
|
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)
|
rs121908955
|
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_001195518.2(MICU1):c.735+1G>A
|
rs369915689
|
0.00002
|
|
NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter)
|
rs866050664
|
0.00002
|
|
NM_001206641.3(COA6):c.349G>T (p.Glu117Ter)
|
rs146440690
|
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.29245C>T (p.Gln9749Ter)
|
rs746721983
|
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_001378030.1(CCDC78):c.61-1G>A
|
rs1006891646
|
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_001953.5(TYMP):c.646+1G>A
|
rs760629248
|
0.00002
|
|
NM_002206.3(ITGA7):c.1072dup (p.Tyr358fs)
|
rs750756707
|
0.00002
|
|
NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter)
|
rs201217202
|
0.00002
|
|
NM_002206.3(ITGA7):c.445C>T (p.Arg149Ter)
|
rs757680080
|
0.00002
|
|
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)
|
rs267606959
|
0.00002
|
|
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
|
rs201372601
|
0.00002
|
|
NM_003051.4(SLC16A1):c.610A>G (p.Lys204Glu)
|
rs80358222
|
0.00002
|
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
|
NM_004320.6(ATP2A1):c.2862+1G>A
|
rs755227074
|
0.00002
|
|
NM_004320.6(ATP2A1):c.490C>T (p.Arg164Ter)
|
rs1024976181
|
0.00002
|
|
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs)
|
rs1471550984
|
0.00002
|
|
NM_005138.3(SCO2):c.178C>T (p.Arg60Trp)
|
rs753779965
|
0.00002
|
|
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter)
|
rs74315512
|
0.00002
|
|
NM_005262.3(GFER):c.566C>G (p.Ser189Ter)
|
rs373135339
|
0.00002
|
|
NM_005476.7(GNE):c.1130del (p.Ile377fs)
|
rs982936794
|
0.00002
|
|
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)
|
rs121908632
|
0.00002
|
|
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)
|
rs748949603
|
0.00002
|
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
|
NM_005476.7(GNE):c.302G>A (p.Arg101His)
|
rs144727134
|
0.00002
|
|
NM_005476.7(GNE):c.32G>A (p.Arg11Gln)
|
rs1401082365
|
0.00002
|
|
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)
|
rs762106720
|
0.00002
|
|
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)
|
rs121909334
|
0.00002
|
|
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His)
|
rs121434447
|
0.00002
|
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
|
NM_013382.7(POMT2):c.248+5G>C
|
rs587777816
|
0.00002
|
|
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys)
|
rs150736997
|
0.00002
|
|
NM_014332.3(SMPX):c.19C>A (p.Pro7Thr)
|
rs770287561
|
0.00002
|
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
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_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
|
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)
|
rs377215510
|
0.00002
|
|
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys)
|
rs747068278
|
0.00002
|
|
NM_022361.5(POPDC3):c.782G>A (p.Arg261Gln)
|
rs1437210856
|
0.00002
|
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
|
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)
|
rs770711331
|
0.00002
|
|
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)
|
rs1247934219
|
0.00002
|
|
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser)
|
rs781565158
|
0.00002
|
|
NM_025207.5(FLAD1):c.408C>A (p.Cys136Ter)
|
rs1057518160
|
0.00002
|
|
NM_032237.5(POMK):c.905T>A (p.Val302Asp)
|
rs199756983
|
0.00002
|
|
NM_032578.4(MYPN):c.1129C>T (p.Arg377Ter)
|
rs781261060
|
0.00002
|
|
NM_032608.7(MYO18B):c.6433C>T (p.Arg2145Ter)
|
rs753585568
|
0.00002
|
|
NM_032806.6(POMGNT2):c.1232del (p.Gln411fs)
|
rs755487513
|
0.00002
|
|
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu)
|
rs374042455
|
0.00002
|
|
NM_152263.4(TPM3):c.855-1G>A
|
rs113605263
|
0.00002
|
|
NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro)
|
rs778022582
|
0.00002
|
|
NM_152490.5(B3GALNT2):c.427C>T (p.Arg143Ter)
|
rs762259872
|
0.00002
|
|
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)
|
rs375077588
|
0.00002
|
|
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter)
|
rs778445117
|
0.00002
|
|
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter)
|
rs199708211
|
0.00002
|
|
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter)
|
rs549779256
|
0.00002
|
|
NM_198271.5(LMOD3):c.131_132del (p.Pro44fs)
|
rs1300427865
|
0.00002
|
|
NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter)
|
rs387906802
|
0.00002
|
|
NM_213599.3(ANO5):c.1944_1945del (p.Lys650fs)
|
rs1308707703
|
0.00002
|
|
NM_213599.3(ANO5):c.220C>T (p.Arg74Ter)
|
rs749645231
|
0.00002
|
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
|
NM_000023.4(SGCA):c.157+1G>A
|
rs113109898
|
0.00001
|
|
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)
|
rs60407644
|
0.00001
|
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
|
NM_000023.4(SGCA):c.313-2A>G
|
rs1057516650
|
0.00001
|
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
|
NM_000023.4(SGCA):c.489del (p.Leu164fs)
|
rs753650776
|
0.00001
|
|
NM_000023.4(SGCA):c.530del (p.Ser177fs)
|
rs886041387
|
0.00001
|
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
|
NM_000023.4(SGCA):c.585-1G>A
|
rs1342189589
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys)
|
rs148895719
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)
|
rs1157720606
|
0.00001
|
|
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)
|
rs766334893
|
0.00001
|
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
|
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp)
|
rs774273767
|
0.00001
|
|
NM_000070.3(CAPN3):c.1084C>T (p.Gln362Ter)
|
rs965032792
|
0.00001
|
|
NM_000070.3(CAPN3):c.1194-9A>G
|
rs374665929
|
0.00001
|
|
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)
|
rs777483913
|
0.00001
|
|
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)
|
rs777323132
|
0.00001
|
|
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
|
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)
|
rs863224956
|
0.00001
|
|
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)
|
rs1274808359
|
0.00001
|
|
NM_000070.3(CAPN3):c.1448C>A (p.Ala483Asp)
|
rs781723572
|
0.00001
|
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
|
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)
|
rs863224957
|
0.00001
|
|
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter)
|
rs886042439
|
0.00001
|
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
|
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)
|
rs398123143
|
0.00001
|
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
|
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)
|
rs762471207
|
0.00001
|
|
NM_000070.3(CAPN3):c.1A>G (p.Met1Val)
|
rs1566965796
|
0.00001
|
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
|
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)
|
rs886042557
|
0.00001
|
|
NM_000070.3(CAPN3):c.2184G>A (p.Gln728=)
|
rs886043220
|
0.00001
|
|
NM_000070.3(CAPN3):c.2185-2A>G
|
rs886041335
|
0.00001
|
|
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly)
|
rs750083132
|
0.00001
|
|
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)
|
rs764459544
|
0.00001
|
|
NM_000070.3(CAPN3):c.2290del (p.Asp764fs)
|
rs886044527
|
0.00001
|
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
|
NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe)
|
rs121434546
|
0.00001
|
|
NM_000070.3(CAPN3):c.2del (p.Met1fs)
|
rs1566965806
|
0.00001
|
|
NM_000070.3(CAPN3):c.379+3A>G
|
rs1164215001
|
0.00001
|
|
NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)
|
rs878854364
|
0.00001
|
|
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)
|
rs773001194
|
0.00001
|
|
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)
|
rs1345121557
|
0.00001
|
|
NM_000070.3(CAPN3):c.743T>G (p.Met248Arg)
|
rs777829958
|
0.00001
|
|
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)
|
rs1555420652
|
0.00001
|
|
NM_000070.3(CAPN3):c.853dup (p.Glu285fs)
|
rs761257703
|
0.00001
|
|
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)
|
rs121434547
|
0.00001
|
|
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.1165A>G (p.Asn389Asp)
|
rs1023807527
|
0.00001
|
|
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)
|
rs780351691
|
0.00001
|
|
NM_000183.3(HADHB):c.254+1G>A
|
rs776172237
|
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_000231.3(SGCG):c.342dup (p.Ala115fs)
|
rs1262459682
|
0.00001
|
|
NM_000231.3(SGCG):c.559del (p.Asp187fs)
|
rs1484553312
|
0.00001
|
|
NM_000231.3(SGCG):c.579-2A>G
|
rs754415994
|
0.00001
|
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
|
NM_000231.3(SGCG):c.752del (p.Thr251fs)
|
rs886042749
|
0.00001
|
|
NM_000231.3(SGCG):c.87dup (p.Gly30fs)
|
rs762777463
|
0.00001
|
|
NM_000232.5(SGCB):c.1A>G (p.Met1Val)
|
rs398123262
|
0.00001
|
|
NM_000232.5(SGCB):c.265G>A (p.Val89Met)
|
rs762652676
|
0.00001
|
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
|
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)
|
rs779516489
|
0.00001
|
|
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)
|
rs751427686
|
0.00001
|
|
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter)
|
rs773554421
|
0.00001
|
|
NM_000232.5(SGCB):c.621+1G>T
|
rs1264362642
|
0.00001
|
|
NM_000232.5(SGCB):c.622-2A>G
|
rs780596734
|
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_000257.4(MYH7):c.1447G>A (p.Glu483Lys)
|
rs121913651
|
0.00001
|
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
|
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)
|
rs121913637
|
0.00001
|
|
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)
|
rs397516161
|
0.00001
|
|
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)
|
rs267606908
|
0.00001
|
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
|
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)
|
rs121913652
|
0.00001
|
|
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
|
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys)
|
rs1188070167
|
0.00001
|
|
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)
|
rs121908556
|
0.00001
|
|
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)
|
rs121908557
|
0.00001
|
|
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)
|
rs121908551
|
0.00001
|
|
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)
|
rs80338792
|
0.00001
|
|
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)
|
rs879253789
|
0.00001
|
|
NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His)
|
rs863225046
|
0.00001
|
|
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp)
|
rs764718003
|
0.00001
|
|
NM_000337.6(SGCD):c.10C>T (p.Gln4Ter)
|
rs1768838504
|
0.00001
|
|
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)
|
rs121909295
|
0.00001
|
|
NM_000426.4(LAMA2):c.1027+3A>G
|
rs772796883
|
0.00001
|
|
NM_000426.4(LAMA2):c.112+1G>A
|
rs398123367
|
0.00001
|
|
NM_000426.4(LAMA2):c.112+2T>C
|
rs1211322465
|
0.00001
|
|
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)
|
rs773209126
|
0.00001
|
|
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr)
|
rs121913574
|
0.00001
|
|
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
|
rs202247791
|
0.00001
|
|
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg)
|
rs121913573
|
0.00001
|
|
NM_000426.4(LAMA2):c.2749+1G>C
|
rs759555791
|
0.00001
|
|
NM_000426.4(LAMA2):c.2749+2dup
|
rs759144210
|
0.00001
|
|
NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter)
|
rs375638381
|
0.00001
|
|
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)
|
rs121913577
|
0.00001
|
|
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr)
|
rs374403765
|
0.00001
|
|
NM_000426.4(LAMA2):c.3020_3021del (p.Gln1007fs)
|
rs757164022
|
0.00001
|
|
NM_000426.4(LAMA2):c.3038-7G>A
|
rs767841898
|
0.00001
|
|
NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter)
|
rs1441933780
|
0.00001
|
|
NM_000426.4(LAMA2):c.3556-13T>A
|
rs775278003
|
0.00001
|
|
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter)
|
rs535635043
|
0.00001
|
|
NM_000426.4(LAMA2):c.3736-2A>T
|
rs372715292
|
0.00001
|
|
NM_000426.4(LAMA2):c.396+1G>T
|
rs770617208
|
0.00001
|
|
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs)
|
rs1433071073
|
0.00001
|
|
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)
|
rs200923373
|
0.00001
|
|
NM_000426.4(LAMA2):c.4523+1G>A
|
rs398123375
|
0.00001
|
|
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter)
|
rs121913575
|
0.00001
|
|
NM_000426.4(LAMA2):c.5234+1G>A
|
rs781376927
|
0.00001
|
|
NM_000426.4(LAMA2):c.5602G>T (p.Glu1868Ter)
|
rs1276300668
|
0.00001
|
|
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs)
|
rs398123377
|
0.00001
|
|
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)
|
rs398123378
|
0.00001
|
|
NM_000426.4(LAMA2):c.6072del (p.Ala2025fs)
|
rs1280099731
|
0.00001
|
|
NM_000426.4(LAMA2):c.6501C>A (p.Tyr2167Ter)
|
rs1424455269
|
0.00001
|
|
NM_000426.4(LAMA2):c.6520del (p.Asn2173_Val2174insTer)
|
rs776548207
|
0.00001
|
|
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)
|
rs398123383
|
0.00001
|
|
NM_000426.4(LAMA2):c.6993-2A>C
|
rs200669208
|
0.00001
|
|
NM_000426.4(LAMA2):c.7044T>G (p.Tyr2348Ter)
|
rs866663584
|
0.00001
|
|
NM_000426.4(LAMA2):c.7071G>A (p.Trp2357Ter)
|
rs1276312596
|
0.00001
|
|
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)
|
rs762806915
|
0.00001
|
|
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro)
|
rs121913570
|
0.00001
|
|
NM_000426.4(LAMA2):c.8244+1G>A
|
rs749522728
|
0.00001
|
|
NM_000426.4(LAMA2):c.8547+2T>C
|
rs1450790879
|
0.00001
|
|
NM_000426.4(LAMA2):c.8748del (p.Glu2917fs)
|
rs1345757357
|
0.00001
|
|
NM_000540.2(RYR1):c.14647-1449A>G
|
rs193922886
|
0.00001
|
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
|
NM_000540.3(RYR1):c.14130-2A>G
|
rs1457662393
|
0.00001
|
|
NM_000540.3(RYR1):c.14170A>C (p.Lys4724Gln)
|
rs118192141
|
0.00001
|
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
|
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)
|
rs1432807966
|
0.00001
|
|
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn)
|
rs118192160
|
0.00001
|
|
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)
|
rs1305971341
|
0.00001
|
|
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)
|
rs118192175
|
0.00001
|
|
NM_000540.3(RYR1):c.6664-2A>G
|
rs1346257891
|
0.00001
|
|
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)
|
rs112563513
|
0.00001
|
|
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
|
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)
|
rs193922816
|
0.00001
|
|
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)
|
rs118192122
|
0.00001
|
|
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)
|
rs1365856881
|
0.00001
|
|
NM_000540.3(RYR1):c.8310+1G>T
|
rs1970380121
|
0.00001
|
|
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter)
|
rs1278804520
|
0.00001
|
|
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)
|
rs756870293
|
0.00001
|
|
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter)
|
rs1374378105
|
0.00001
|
|
NM_000540.3(RYR1):c.9472+1G>A
|
rs776697656
|
0.00001
|
|
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)
|
rs121909090
|
0.00001
|
|
NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter)
|
rs1397859218
|
0.00001
|
|
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)
|
rs756973046
|
0.00001
|
|
NM_001077365.2(POMT1):c.1175+1G>A
|
rs1051679985
|
0.00001
|
|
NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met)
|
rs397515400
|
0.00001
|
|
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)
|
rs1564364615
|
0.00001
|
|
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter)
|
rs745509085
|
0.00001
|
|
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)
|
rs1397478363
|
0.00001
|
|
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)
|
rs746849558
|
0.00001
|
|
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)
|
rs119462985
|
0.00001
|
|
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)
|
rs761848742
|
0.00001
|
|
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)
|
rs119462987
|
0.00001
|
|
NM_001077365.2(POMT1):c.280+1G>T
|
rs746823238
|
0.00001
|
|
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys)
|
rs1289335417
|
0.00001
|
|
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)
|
rs119462982
|
0.00001
|
|
NM_001077365.2(POMT1):c.605+1G>T
|
rs766648827
|
0.00001
|
|
NM_001077365.2(POMT1):c.699+62del
|
rs1356791510
|
0.00001
|
|
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)
|
rs119462981
|
0.00001
|
|
NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter)
|
rs759848847
|
0.00001
|
|
NM_001077365.2(POMT1):c.986+1G>A
|
rs961071228
|
0.00001
|
|
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)
|
rs1554761402
|
0.00001
|
|
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)
|
rs119463990
|
0.00001
|
|
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)
|
rs119463991
|
0.00001
|
|
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)
|
rs1309132512
|
0.00001
|
|
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)
|
rs746763506
|
0.00001
|
|
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)
|
rs119463992
|
0.00001
|
|
NM_001080449.3(DNA2):c.593G>A (p.Arg198His)
|
rs1272393477
|
0.00001
|
|
NM_001080449.3(DNA2):c.679A>G (p.Lys227Glu)
|
rs760412883
|
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_001100.4(ACTA1):c.990+1G>T
|
rs372686280
|
0.00001
|
|
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)
|
rs186882839
|
0.00001
|
|
NM_001101426.4(CRPPA):c.550C>T (p.Arg184Ter)
|
rs370499190
|
0.00001
|
|
NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys)
|
rs1289931198
|
0.00001
|
|
NM_001130987.2(DYSF):c.1033+1G>A
|
rs201869739
|
0.00001
|
|
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)
|
rs768546511
|
0.00001
|
|
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)
|
rs758180890
|
0.00001
|
|
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)
|
rs886042389
|
0.00001
|
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
0.00001
|
|
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro)
|
rs794727119
|
0.00001
|
|
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)
|
rs121908962
|
0.00001
|
|
NM_001130987.2(DYSF):c.1693-6T>A
|
rs886039573
|
0.00001
|
|
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)
|
rs377735262
|
0.00001
|
|
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)
|
rs746873768
|
0.00001
|
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
|
NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter)
|
rs756258757
|
0.00001
|
|
NM_001130987.2(DYSF):c.2409+1G>A
|
rs151317754
|
0.00001
|
|
NM_001130987.2(DYSF):c.2698-2A>G
|
rs1420930684
|
0.00001
|
|
NM_001130987.2(DYSF):c.2864+1G>A
|
rs199954546
|
0.00001
|
|
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)
|
rs28937581
|
0.00001
|
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
|
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs)
|
rs748542672
|
0.00001
|
|
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)
|
rs886042091
|
0.00001
|
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
|
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)
|
rs763674597
|
0.00001
|
|
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
|
rs758993965
|
0.00001
|
|
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)
|
rs776472879
|
0.00001
|
|
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)
|
rs886044411
|
0.00001
|
|
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)
|
rs398123789
|
0.00001
|
|
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs)
|
rs1156805286
|
0.00001
|
|
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)
|
rs779987458
|
0.00001
|
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
|
NM_001130987.2(DYSF):c.5458-1G>A
|
rs886042879
|
0.00001
|
|
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)
|
rs398123794
|
0.00001
|
|
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)
|
rs121908959
|
0.00001
|
|
NM_001130987.2(DYSF):c.5884+1G>A
|
rs756689063
|
0.00001
|
|
NM_001130987.2(DYSF):c.6099_6106dup (p.His2036fs)
|
rs886042318
|
0.00001
|
|
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)
|
rs746663568
|
0.00001
|
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
|
NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro)
|
rs398123808
|
0.00001
|
|
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)
|
rs121908963
|
0.00001
|
|
NM_001135254.2(PAX7):c.166C>T (p.Arg56Cys)
|
rs1392068839
|
0.00001
|
|
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)
|
rs121912683
|
0.00001
|
|
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)
|
rs869025431
|
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.24304_24305dup (p.Leu8102fs)
|
rs1559207733
|
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.37-1G>A
|
rs1428597732
|
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_001195518.2(MICU1):c.547C>T (p.Gln183Ter)
|
rs777327250
|
0.00001
|
|
NM_001199563.2(BVES):c.262C>T (p.Arg88Ter)
|
rs796206315
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1559G>A (p.Trp520Ter)
|
rs794726677
|
0.00001
|
|
NM_001256545.2(MEGF10):c.211C>T (p.Arg71Trp)
|
rs387907074
|
0.00001
|
|
NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter)
|
rs989552169
|
0.00001
|
|
NM_001267052.2(UNC45B):c.1540T>C (p.Cys514Arg)
|
rs775340790
|
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.106154A>C (p.Lys35385Thr)
|
rs768296130
|
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.15796C>T (p.Arg5266Ter)
|
rs372277017
|
0.00001
|
|
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn)
|
rs1190242728
|
0.00001
|
|
NM_001267550.2(TTN):c.160G>A (p.Val54Met)
|
rs139517732
|
0.00001
|
|
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)
|
rs772235481
|
0.00001
|
|
NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter)
|
rs1340940049
|
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.38876-2A>C
|
rs1185989004
|
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.49870C>T (p.Arg16624Ter)
|
rs1471414348
|
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.53743C>T (p.Arg17915Ter)
|
rs753333359
|
0.00001
|
|
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter)
|
rs768431507
|
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.59460G>A (p.Trp19820Ter)
|
rs1250461669
|
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.73846C>T (p.Arg24616Ter)
|
rs794729284
|
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_001289808.2(CRYAB):c.343del (p.Ser115fs)
|
rs281865142
|
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.1870G>A (p.Glu624Lys)
|
rs387906607
|
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.46C>T (p.Arg16Cys)
|
rs60798368
|
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.757C>T (p.Gln253Ter)
|
rs1187516594
|
0.00001
|
|
NM_001927.4(DES):c.885G>A (p.Trp295Ter)
|
rs146755676
|
0.00001
|
|
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser)
|
rs1060499534
|
0.00001
|
|
NM_001953.5(TYMP):c.1300+1G>A
|
rs1064792878
|
0.00001
|
|
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter)
|
rs2069504242
|
0.00001
|
|
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)
|
rs1064792861
|
0.00001
|
|
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser)
|
rs121913038
|
0.00001
|
|
NM_001953.5(TYMP):c.628A>C (p.Ser210Arg)
|
rs761665644
|
0.00001
|
|
NM_001953.5(TYMP):c.760A>C (p.Thr254Pro)
|
rs1064792870
|
0.00001
|
|
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)
|
rs121913042
|
0.00001
|
|
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys)
|
rs946234163
|
0.00001
|
|
NM_001953.5(TYMP):c.929-1G>A
|
rs1180285291
|
0.00001
|
|
NM_002206.3(ITGA7):c.2098C>T (p.Gln700Ter)
|
rs147648235
|
0.00001
|
|
NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter)
|
rs755438542
|
0.00001
|
|
NM_002206.3(ITGA7):c.247C>T (p.Gln83Ter)
|
rs1055839662
|
0.00001
|
|
NM_002206.3(ITGA7):c.3040C>T (p.Arg1014Ter)
|
rs377510220
|
0.00001
|
|
NM_002478.5(MYOD1):c.188C>A (p.Ser63Ter)
|
rs147517396
|
0.00001
|
|
NM_002495.4(NDUFS4):c.99-1G>A
|
rs376281345
|
0.00001
|
|
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp)
|
rs121918046
|
0.00001
|
|
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)
|
rs1254855971
|
0.00001
|
|
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)
|
rs769827124
|
0.00001
|
|
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser)
|
rs121918050
|
0.00001
|
|
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)
|
rs121918056
|
0.00001
|
|
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)
|
rs769410130
|
0.00001
|
|
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile)
|
rs766294940
|
0.00001
|
|
NM_002936.6(RNASEH1):c.469C>T (p.Arg157Ter)
|
rs373442996
|
0.00001
|
|
NM_003000.3(SDHB):c.143A>T (p.Asp48Val)
|
rs202101384
|
0.00001
|
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
|
NM_003000.3(SDHB):c.769C>G (p.Leu257Val)
|
rs761350633
|
0.00001
|
|
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)
|
rs202198133
|
0.00001
|
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
|
NM_003283.6(TNNT1):c.309+1G>A
|
rs149559898
|
0.00001
|
|
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)
|
rs104894655
|
0.00001
|
|
NM_003900.5(SQSTM1):c.1165+1G>A
|
rs796051870
|
0.00001
|
|
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val)
|
rs104894791
|
0.00001
|
|
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter)
|
rs1295935628
|
0.00001
|
|
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)
|
rs128626249
|
0.00001
|
|
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter)
|
rs398124008
|
0.00001
|
|
NM_004006.3(DMD):c.6604del (p.Arg2202fs)
|
rs2095369359
|
0.00001
|
|
NM_004130.4(GYG1):c.631del (p.Val211fs)
|
rs1429663478
|
0.00001
|
|
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)
|
rs727502869
|
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.1660C>T (p.Arg554Trp)
|
rs9809219
|
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_004320.6(ATP2A1):c.1184+1G>A
|
rs551660089
|
0.00001
|
|
NM_004320.6(ATP2A1):c.1287G>A (p.Glu429=)
|
rs200596448
|
0.00001
|
|
NM_004320.6(ATP2A1):c.1491T>G (p.Tyr497Ter)
|
rs1409892710
|
0.00001
|
|
NM_004320.6(ATP2A1):c.150G>A (p.Trp50Ter)
|
rs756940046
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2025C>A (p.Cys675Ter)
|
rs121918114
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2262C>G (p.Tyr754Ter)
|
rs752371826
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2758C>T (p.Gln920Ter)
|
rs897301304
|
0.00001
|
|
NM_004320.6(ATP2A1):c.592C>T (p.Arg198Ter)
|
rs121918113
|
0.00001
|
|
NM_004320.6(ATP2A1):c.704T>A (p.Ile235Asn)
|
rs569683468
|
0.00001
|
|
NM_004320.6(ATP2A1):c.706C>T (p.Arg236Ter)
|
rs745337023
|
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_004614.5(TK2):c.133C>T (p.Gln45Ter)
|
rs281865486
|
0.00001
|
|
NM_004614.5(TK2):c.173A>G (p.Asn58Ser)
|
rs138439950
|
0.00001
|
|
NM_004614.5(TK2):c.268C>T (p.Arg90Cys)
|
rs281865489
|
0.00001
|
|
NM_004614.5(TK2):c.562A>G (p.Thr188Ala)
|
rs281865495
|
0.00001
|
|
NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)
|
rs750971390
|
0.00001
|
|
NM_005138.3(SCO2):c.511C>T (p.Arg171Trp)
|
rs28937598
|
0.00001
|
|
NM_005198.5(CHKB):c.1031+3G>C
|
rs751176079
|
0.00001
|
|
NM_005262.3(GFER):c.575A>G (p.Asp192Gly)
|
rs1363034255
|
0.00001
|
|
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)
|
rs747199032
|
0.00001
|
|
NM_005476.7(GNE):c.1525C>T (p.His509Tyr)
|
rs754892377
|
0.00001
|
|
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser)
|
rs966918577
|
0.00001
|
|
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)
|
rs762009737
|
0.00001
|
|
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu)
|
rs121908625
|
0.00001
|
|
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr)
|
rs752286512
|
0.00001
|
|
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)
|
rs372732220
|
0.00001
|
|
NM_005476.7(GNE):c.2023T>C (p.Tyr675His)
|
rs1191857860
|
0.00001
|
|
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
|
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)
|
rs539332585
|
0.00001
|
|
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)
|
rs786204476
|
0.00001
|
|
NM_005476.7(GNE):c.722T>G (p.Ile241Ser)
|
rs759945787
|
0.00001
|
|
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)
|
rs773729410
|
0.00001
|
|
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)
|
rs757091387
|
0.00001
|
|
NM_005868.6(BET1):c.152T>G (p.Ile51Ser)
|
rs372513869
|
0.00001
|
|
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)
|
rs771409809
|
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_006892.4(DNMT3B):c.2072C>T (p.Pro691Leu)
|
rs889145646
|
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_007078.3(LDB3):c.869C>T (p.Pro290Leu)
|
rs775180716
|
0.00001
|
|
NM_007126.5(VCP):c.1460G>A (p.Arg487His)
|
rs767379602
|
0.00001
|
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
0.00001
|
|
NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter)
|
rs121908602
|
0.00001
|
|
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)
|
rs111033570
|
0.00001
|
|
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter)
|
rs199664043
|
0.00001
|
|
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)
|
rs267606970
|
0.00001
|
|
NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter)
|
rs773017813
|
0.00001
|
|
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)
|
rs190285831
|
0.00001
|
|
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter)
|
rs368817785
|
0.00001
|
|
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter)
|
rs766169193
|
0.00001
|
|
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)
|
rs119463989
|
0.00001
|
|
NM_013382.7(POMT2):c.248+1G>C
|
rs961440747
|
0.00001
|
|
NM_013382.7(POMT2):c.593T>A (p.Ile198Asn)
|
rs267606972
|
0.00001
|
|
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter)
|
rs764878423
|
0.00001
|
|
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter)
|
rs775932206
|
0.00001
|
|
NM_014254.3(RXYLT1):c.1018C>T (p.Arg340Ter)
|
rs397514695
|
0.00001
|
|
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs)
|
rs397514545
|
0.00001
|
|
NM_014254.3(RXYLT1):c.429-2A>G
|
rs199605239
|
0.00001
|
|
NM_014254.3(RXYLT1):c.795del (p.Arg266fs)
|
rs397514543
|
0.00001
|
|
NM_015295.3(SMCHD1):c.1040+1G>A
|
rs1245372794
|
0.00001
|
|
NM_015295.3(SMCHD1):c.1580C>T (p.Thr527Met)
|
rs397518422
|
0.00001
|
|
NM_015295.3(SMCHD1):c.1654C>T (p.Arg552Ter)
|
rs1224850132
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.149C>A (p.Ser50Ter)
|
rs374232191
|
0.00001
|
|
NM_015602.4(TOR1AIP1):c.646G>T (p.Glu216Ter)
|
rs778326858
|
0.00001
|
|
NM_015713.5(RRM2B):c.253_255del (p.Glu85del)
|
rs515726184
|
0.00001
|
|
NM_016532.4(INPP5K):c.418G>A (p.Gly140Ser)
|
rs749383757
|
0.00001
|
|
NM_016532.4(INPP5K):c.67G>A (p.Val23Met)
|
rs750781027
|
0.00001
|
|
NM_016532.4(INPP5K):c.805G>A (p.Asp269Asn)
|
rs761612652
|
0.00001
|
|
NM_016653.3(MAP3K20):c.490_491del (p.Met164fs)
|
rs1293675104
|
0.00001
|
|
NM_017534.6(MYH2):c.1975-2A>G
|
rs746770617
|
0.00001
|
|
NM_017534.6(MYH2):c.2173A>T (p.Lys725Ter)
|
rs1027921042
|
0.00001
|
|
NM_017534.6(MYH2):c.4537+1G>A
|
rs567336764
|
0.00001
|
|
NM_017534.6(MYH2):c.52C>T (p.Arg18Ter)
|
rs769712128
|
0.00001
|
|
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile)
|
rs756953958
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)
|
rs150877512
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter)
|
rs745343484
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)
|
rs760705290
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)
|
rs386834018
|
0.00001
|
|
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)
|
rs193919337
|
0.00001
|
|
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)
|
rs375431575
|
0.00001
|
|
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln)
|
rs770188918
|
0.00001
|
|
NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)
|
rs1048865247
|
0.00001
|
|
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
|
rs386834034
|
0.00001
|
|
NM_017739.4(POMGNT1):c.652+1G>T
|
rs386834035
|
0.00001
|
|
NM_017739.4(POMGNT1):c.751+1G>A
|
rs1247668825
|
0.00001
|
|
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
|
rs386834039
|
0.00001
|
|
NM_018116.4(MSTO1):c.966+1G>A
|
rs771965165
|
0.00001
|
|
NM_018684.4(ZC4H2):c.53G>A (p.Arg18Lys)
|
rs1057520299
|
0.00001
|
|
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala)
|
rs587777301
|
0.00001
|
|
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys)
|
rs587777300
|
0.00001
|
|
NM_020451.3(SELENON):c.1209dup (p.Lys404fs)
|
rs745715484
|
0.00001
|
|
NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser)
|
rs121908186
|
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.446_447del (p.Pro149fs)
|
rs1192828749
|
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_020451.3(SELENON):c.878A>G (p.His293Arg)
|
rs776738184
|
0.00001
|
|
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp)
|
rs267606682
|
0.00001
|
|
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln)
|
rs137852956
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.100C>T (p.Arg34Ter)
|
rs569565392
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)
|
rs397509417
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.3193C>T (p.Arg1065Ter)
|
rs750976634
|
0.00001
|
|
NM_021971.4(GMPPB):c.1070G>A (p.Arg357His)
|
rs771861177
|
0.00001
|
|
NM_021971.4(GMPPB):c.294dup (p.Glu99Ter)
|
rs1365085828
|
0.00001
|
|
NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys)
|
rs145535498
|
0.00001
|
|
NM_021971.4(GMPPB):c.402+1G>A
|
rs145564018
|
0.00001
|
|
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)
|
rs397509425
|
0.00001
|
|
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu)
|
rs397509426
|
0.00001
|
|
NM_022336.4(EDAR):c.266G>A (p.Arg89His)
|
rs121908450
|
0.00001
|
|
NM_022361.5(POPDC3):c.464T>A (p.Leu155His)
|
rs1311819000
|
0.00001
|
|
NM_024301.5(FKRP):c.1012G>C (p.Val338Leu)
|
rs1173430388
|
0.00001
|
|
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter)
|
rs772950604
|
0.00001
|
|
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
|
rs104894681
|
0.00001
|
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
|
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)
|
rs104894682
|
0.00001
|
|
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)
|
rs761821795
|
0.00001
|
|
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)
|
rs104894692
|
0.00001
|
|
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)
|
rs752582904
|
0.00001
|
|
NM_024301.5(FKRP):c.962C>A (p.Ala321Glu)
|
rs745882222
|
0.00001
|
|
NM_024301.5(FKRP):c.968G>A (p.Arg323His)
|
rs1349031936
|
0.00001
|
|
NM_024854.5(PYROXD1):c.1116G>C (p.Gln372His)
|
rs755208949
|
0.00001
|
|
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)
|
rs199979286
|
0.00001
|
|
NM_025207.5(FLAD1):c.797del (p.Glu266fs)
|
rs1657723514
|
0.00001
|
|
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp)
|
rs869025309
|
0.00001
|
|
NM_031229.4(RBCK1):c.1054C>T (p.Arg352Ter)
|
rs780854072
|
0.00001
|
|
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys)
|
rs1342598444
|
0.00001
|
|
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs)
|
rs730880330
|
0.00001
|
|
NM_032237.5(POMK):c.10C>T (p.Gln4Ter)
|
rs202006335
|
0.00001
|
|
NM_032237.5(POMK):c.410T>G (p.Leu137Arg)
|
rs397509385
|
0.00001
|
|
NM_032237.5(POMK):c.43C>T (p.Arg15Ter)
|
rs774013796
|
0.00001
|
|
NM_032237.5(POMK):c.907C>T (p.Arg303Ter)
|
rs528307346
|
0.00001
|
|
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter)
|
rs199476412
|
0.00001
|
|
NM_032806.6(POMGNT2):c.473G>A (p.Arg158His)
|
rs387907300
|
0.00001
|
|
NM_032806.6(POMGNT2):c.494T>C (p.Met165Thr)
|
rs1559414655
|
0.00001
|
|
NM_032806.6(POMGNT2):c.509del (p.Asp170fs)
|
rs2089847365
|
0.00001
|
|
NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn)
|
rs768063378
|
0.00001
|
|
NM_032806.6(POMGNT2):c.590G>A (p.Trp197Ter)
|
rs752069645
|
0.00001
|
|
NM_033337.3(CAV3):c.260T>C (p.Leu87Pro)
|
rs28936685
|
0.00001
|
|
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)
|
rs116840778
|
0.00001
|
|
NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile)
|
rs387907150
|
0.00001
|
|
NM_078470.6(COX15):c.305G>A (p.Trp102Ter)
|
rs778412019
|
0.00001
|
|
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys)
|
rs104893632
|
0.00001
|
|
NM_133642.5(LARGE1):c.1483T>C (p.Trp495Arg)
|
rs267607209
|
0.00001
|
|
NM_133642.5(LARGE1):c.1525G>A (p.Glu509Lys)
|
rs121908675
|
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_152263.4(TPM3):c.857A>C (p.Ter286Ser)
|
rs199474720
|
0.00001
|
|
NM_152328.5(ADSS1):c.769G>A (p.Ala257Thr)
|
rs753588351
|
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_152490.5(B3GALNT2):c.1368+1G>A
|
rs1479230229
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter)
|
rs1282726649
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)
|
rs367543072
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)
|
rs367543074
|
0.00001
|
|
NM_153741.2(DPM3):c.129_130del (p.Tyr44fs)
|
rs1557794919
|
0.00001
|
|
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)
|
rs778481307
|
0.00001
|
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
|
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)
|
rs397517889
|
0.00001
|
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
|
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)
|
rs57318642
|
0.00001
|
|
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)
|
rs769561386
|
0.00001
|
|
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)
|
rs60682848
|
0.00001
|
|
NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe)
|
rs756015202
|
0.00001
|
|
NM_173660.5(DOK7):c.331+1G>T
|
rs1349476281
|
0.00001
|
|
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)
|
rs758131044
|
0.00001
|
|
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg)
|
rs768892432
|
0.00001
|
|
NM_173660.5(DOK7):c.596del (p.Ile199fs)
|
rs797045528
|
0.00001
|
|
NM_178554.6(KY):c.415C>T (p.Arg139Ter)
|
rs373240849
|
0.00001
|
|
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter)
|
rs752224921
|
0.00001
|
|
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter)
|
rs766129413
|
0.00001
|
|
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)
|
rs1300885934
|
0.00001
|
|
NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter)
|
rs781655232
|
0.00001
|
|
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)
|
rs780451185
|
0.00001
|
|
NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter)
|
rs780634258
|
0.00001
|
|
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter)
|
rs1174316105
|
0.00001
|
|
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)
|
rs797046025
|
0.00001
|
|
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter)
|
rs771760718
|
0.00001
|
|
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter)
|
rs750266004
|
0.00001
|
|
NM_198271.5(LMOD3):c.1201C>T (p.Arg401Ter)
|
rs724159964
|
0.00001
|
|
NM_201384.3(PLEC):c.10573C>T (p.Gln3525Ter)
|
rs781837529
|
0.00001
|
|
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp)
|
rs80338756
|
0.00001
|
|
NM_201384.3(PLEC):c.6664C>T (p.Gln2222Ter)
|
rs1823561323
|
0.00001
|
|
NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter)
|
rs782107643
|
0.00001
|
|
NM_201384.3(PLEC):c.6970C>T (p.Arg2324Ter)
|
rs1554691029
|
0.00001
|
|
NM_201384.3(PLEC):c.8991C>G (p.Tyr2997Ter)
|
rs1279778532
|
0.00001
|
|
NM_213595.4(ISCU):c.418+382G>C
|
rs767000507
|
0.00001
|
|
NM_213599.3(ANO5):c.1119+1G>T
|
rs762946781
|
0.00001
|
|
NM_213599.3(ANO5):c.1120-1G>A
|
rs561719071
|
0.00001
|
|
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)
|
rs137854524
|
0.00001
|
|
NM_213599.3(ANO5):c.1407+5G>A
|
rs281865464
|
0.00001
|
|
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)
|
rs1168346560
|
0.00001
|
|
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)
|
rs1323349209
|
0.00001
|
|
NM_213599.3(ANO5):c.1963T>C (p.Trp655Arg)
|
rs912174567
|
0.00001
|
|
NM_213599.3(ANO5):c.2012A>G (p.Tyr671Cys)
|
rs764261431
|
0.00001
|
|
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter)
|
rs753138577
|
0.00001
|
|
NM_213599.3(ANO5):c.2395C>T (p.Arg799Ter)
|
rs762874007
|
0.00001
|
|
NM_213599.3(ANO5):c.2470del (p.Gln824fs)
|
rs770694933
|
0.00001
|
|
46;XX;t(7;13)(p13;q34)dn
|
|
|
|
CNTN1, EX2-15DEL and EX18-19DEL
|
|
|
|
GRCh37/hg19 17p12(chr17:14215739-15422582)
|
|
|
|
GRCh37/hg19 19q13.42(chr19:55652193-55665240)
|
|
|
|
GRCh37/hg19 22q12.3(chr22:34152899-34236578)
|
|
|
|
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
|
|
|
|
GRCh37/hg19 2q37.3(chr2:239860877-241385960)
|
|
|
|
GRCh37/hg19 Xp21.1(chrX:31792077-31893490)
|
|
|
|
GRCh37/hg19 Xp21.1(chrX:31853996-31855256)
|
|
|
|
GRCh37/hg19 Xp21.1(chrX:32235149-32459424)
|
|
|
|
GRCh37/hg19 Xp21.1(chrX:32466518-32928163)
|
|
|
|
GRCh37/hg19 Xp21.1(chrX:32587530-32719171)
|
|
|
|
GRCh37/hg19 Xp21.1(chrX:32715977-32867947)x2
|
|
|
|
GRCh37/hg19 Xq28(chrX:149761077-149818374)
|
|
|
|
GRCh38/hg38 13q12.12(chr13:23315907-23322480)x0
|
|
|
|
GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0
|
|
|
|
GRCh38/hg38 15q15.1(chr15:42349336-42378932)x1
|
|
|
|
GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1
|
|
|
|
GRCh38/hg38 2p13.2(chr2:71503117-71517137)x0
|
|
|
|
GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1
|
|
|
|
GRCh38/hg38 2q35(chr2:219420345-219431647)x1
|
|
|
|
GRCh38/hg38 Xp21.1(chrX:31601428-31727780)x0
|
|
|
|
GRCh38/hg38 Xp21.1(chrX:31782226-32088001)x0
|
|
|
|
GRCh38/hg38 Xp21.1(chrX:32216792-33041819)x0
|
|
|
|
GRCh38/hg38 Xp21.1(chrX:32536377-32771300)x0
|
|
|
|
GRCh38/hg38 Xq28(chrX:150592508-150619237)x0
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GRCh38/hg38 Xq28(chrX:154375606-154392000)x0
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LARGE1, GLN87FS
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MICU1, EX9-10DUP
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Multiple alleles
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NC_000001.10:g.(?_115231162)_(115238191_?)del
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NC_000001.10:g.(?_154163642)_(154164494_?)del
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NC_000001.10:g.(?_155112418)_(155112826_?)del
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NC_000001.10:g.(?_235605109)_(235613675_?)del
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NC_000001.10:g.(?_235612376)_(235616407_?)del
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NC_000001.10:g.(?_235616382)_(235643485_?)del
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NC_000001.10:g.(?_235628933)_(235629051_?)del
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NC_000001.10:g.(?_25870190)_(26142209_?)del
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NC_000001.10:g.(?_26126650)_(26126749_?)del
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NC_000001.10:g.(?_46654381)_(46656466_?)del
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NC_000001.10:g.(?_46654942)_(46655681_?)del
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NC_000001.10:g.(?_46655193)_(46661449_?)del
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NC_000001.10:g.(?_46656382)_(46662766_?)del
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NC_000001.10:g.(?_46662483)_(46671639_?)del
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NC_000001.10:g.(?_46663448)_(46664153_?)del
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NC_000001.11:g.(?_179882503)_(179904022_?)del
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NC_000001.11:g.(?_235465599)_(235465734_?)del
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NC_000001.11:g.(?_46190463)_(46190794_?)del
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NC_000001.11:g.229432790C>G
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rs727503798
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NC_000001.11:g.25800167_25800266del
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rs1572226578
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NC_000002.11:g.(152501090_152502643)_(152502749_152506689)del
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NC_000002.11:g.(26477343_26486247)_(26486348_26492820)del
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NC_000002.11:g.(?_152380815)_(152384109_?)del
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NC_000002.11:g.(?_152382464)_(152385410_?)del
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NC_000002.11:g.(?_152408232)_(152432888_?)del
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NC_000002.11:g.(?_152417187)_(152418727_?)del
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NC_000002.11:g.(?_152417188)_(152418728_?)del
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NC_000002.11:g.(?_152466303)_(152554182_?)del
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NC_000002.11:g.(?_152466303)_(152563531_?)del
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NC_000002.11:g.(?_152466303)_(152955525_?)del
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NC_000002.11:g.(?_152470770)_(152471121_?)del
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NC_000002.11:g.(?_152470770)_(152554182_?)del
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NC_000002.11:g.(?_152475955)_(152476286_?)del
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NC_000002.11:g.(?_152482028)_(152566297_?)del
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NC_000002.11:g.(?_152482028)_(152567072_?)del
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NC_000002.11:g.(?_152484031)_(152500325_?)del
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NC_000002.11:g.(?_152490172)_(152500335_?)del
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NC_000002.11:g.(?_152496849)_(152500663_?)del
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NC_000002.11:g.(?_152496863)_(152500325_?)del
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NC_000002.11:g.(?_152499068)_(152499887_?)del
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NC_000002.11:g.(?_152499068)_(152500663_?)del
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NC_000002.11:g.(?_152499078)_(152500653_?)del
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NC_000002.11:g.(?_152506680)_(152510623_?)del
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NC_000002.11:g.(?_152520042)_(152521397_?)del
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NC_000002.11:g.(?_152524298)_(152525665_?)del
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NC_000002.11:g.(?_152539156)_(152539303_?)del
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NC_000002.11:g.(?_152550817)_(152554182_?)del
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NC_000002.11:g.(?_152579876)_(152589670_?)del
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NC_000002.11:g.(?_179392363)_(179408795_?)del
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NC_000002.11:g.(?_219135239)_(220290732_?)del
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NC_000002.11:g.(?_220283185)_(220290712_?)del
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NC_000002.11:g.(?_236403331)_(242801596_?)del
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NC_000002.11:g.(?_237481970)_(238305470_?)del
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NC_000002.11:g.(?_237481970)_(242801596_?)del
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NC_000002.11:g.(?_238267977)_(238268801_?)del
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NC_000002.11:g.(?_26414109)_(26415303_?)del
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NC_000002.11:g.(?_26414109)_(26462021_?)del
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NC_000002.11:g.(?_26414119)_(26414517_?)del
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NC_000002.11:g.(?_26414119)_(26462031_?)del
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NC_000002.11:g.(?_26414119)_(26502265_?)del
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NC_000002.11:g.(?_26416426)_(26418121_?)del
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NC_000002.11:g.(?_26416436)_(26418111_?)del
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NC_000002.11:g.(?_26423998)_(26424209_?)del
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NC_000002.11:g.(?_26426911)_(26512821_?)del
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NC_000002.11:g.(?_26467378)_(26467464_?)del
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NC_000002.11:g.(?_26477123)_(26486367_?)del
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NC_000002.11:g.(?_26486228)_(26486367_?)del
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NC_000002.11:g.(?_26486228)_(26781439_?)del
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NC_000002.11:g.(?_26492801)_(26496638_?)del
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NC_000002.11:g.(?_26505693)_(26508459_?)del
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NC_000002.11:g.(?_26506965)_(26508459_?)del
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NC_000002.11:g.(?_26507731)_(26508459_?)del
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NC_000002.11:g.(?_26507731)_(26512821_?)del
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NC_000002.12:g.(?_151485750)_(151957616_?)del
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NC_000002.12:g.(?_151614266)_(151697658_?)del
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NC_000002.12:g.(?_151645758)_(151648259_?)del
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NC_000002.12:g.(?_151646110)_(151646254_?)del
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NC_000002.12:g.(?_151646120)_(151646244_?)del
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NC_000002.12:g.(?_219418453)_(219426000_?)del
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NC_000002.12:g.(?_237358501)_(237361194_?)del
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NC_000002.12:g.(?_26236845)_(26239153_?)del
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NC_000002.12:g.178552644_178552645del
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rs773840992
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NC_000002.12:g.237345214del
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NC_000002.12:g.26201318_26201321del
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NC_000003.11:g.(?_148447967)_(151176497_?)del
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NC_000003.11:g.(?_148709428)_(148709454_?)del
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NC_000003.11:g.(?_43121181)_(43122923_?)del
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NC_000003.11:g.(?_48895920)_(49570632_?)del
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NC_000003.11:g.(?_49568210)_(49570632_?)del
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NC_000003.11:g.(?_69158226)_(69171557_?)del
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NC_000003.11:g.(?_8775485)_(8788452_?)del
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NC_000003.12:g.148996742del
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NC_000004.11:g.(?_184585021)_(184585244_?)del
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NC_000004.11:g.(?_184615786)_(184627497_?)del
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NC_000004.11:g.(?_184622830)_(184633797_?)del
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NC_000004.11:g.(?_2822345)_(3495228_?)del
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NC_000004.11:g.(?_3465103)_(3465298_?)del
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NC_000004.11:g.(?_3478049)_(3478289_?)del
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NC_000004.11:g.(?_3478200)_(3482970_?)del
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NC_000004.11:g.(?_3494466)_(3495228_?)del
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NC_000004.11:g.(?_52890123)_(52904425_?)del
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NC_000004.11:g.(?_52894124)_(52896039_?)del
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NC_000004.11:g.(?_52894876)_(52895107_?)del
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NC_000004.11:g.(?_52899577)_(52899826_?)del
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NC_000004.12:g.(?_183663858)_(183712654_?)del
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NC_000004.12:g.(?_3463366)_(3493511_?)del
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NC_000004.12:g.(?_3473386)_(3489816_?)del
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NC_000004.12:g.(?_3485519)_(3493521_?)del
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NC_000004.12:g.(?_3485529)_(3485668_?)del
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NC_000004.12:g.(?_3485529)_(3493511_?)del
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NC_000004.12:g.(?_52023947)_(52038269_?)del
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NC_000004.12:g.(?_52033421)_(52033650_?)del
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NC_000004.12:g.(?_52038207)_(52038279_?)del
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NC_000005.10:g.(?_156329567)_(156344687_?)del
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NC_000005.10:g.(?_156757561)_(156759410_?)del
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NC_000005.9:g.(?_155338082)_(156186411_?)del
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NC_000005.9:g.(?_155756587)_(156074566_?)del
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NC_000005.9:g.(?_155756587)_(156184735_?)del
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NC_000005.9:g.(?_155935601)_(156074556_?)del
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NC_000005.9:g.(?_156074454)_(156074566_?)del
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NC_000005.9:g.(?_156184572)_(156184735_?)del
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NC_000006.11:g.(129381042_129419317)_(129419561_129465045)del
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NC_000006.11:g.(129766967_129774132)_(129775434_129777479)del
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NC_000006.11:g.(?_129204381)_(129837502_?)del
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NC_000006.11:g.(?_129204391)_(129204522_?)del
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NC_000006.11:g.(?_129204391)_(129514018_?)del
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NC_000006.11:g.(?_129371043)_(129371253_?)del
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NC_000006.11:g.(?_129371043)_(129419580_?)del
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NC_000006.11:g.(?_129371043)_(129470261_?)del
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NC_000006.11:g.(?_129371043)_(129486840_?)del
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NC_000006.11:g.(?_129371043)_(129499031_?)del
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NC_000006.11:g.(?_129371043)_(129514018_?)del
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NC_000006.11:g.(?_129371043)_(129622037_?)dup
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NC_000006.11:g.(?_129371053)_(129725114_?)del
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NC_000006.11:g.(?_129419298)_(129419580_?)del
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NC_000006.11:g.(?_129419305)_(129514008_?)del
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NC_000006.11:g.(?_129419305)_(129749009_?)del
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NC_000006.11:g.(?_129465026)_(129465245_?)del
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NC_000006.11:g.(?_129465026)_(129514018_?)del
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NC_000006.11:g.(?_129486711)_(129486830_?)del
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NC_000006.11:g.(?_129581836)_(129581987_?)del
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NC_000006.11:g.(?_129581836)_(129588384_?)del
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NC_000006.11:g.(?_129601186)_(129674522_?)del
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NC_000006.11:g.(?_129608982)_(129609213_?)del
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NC_000006.11:g.(?_129612749)_(129612875_?)del
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NC_000006.11:g.(?_129618820)_(129619020_?)del
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NC_000006.11:g.(?_129621871)_(129622027_?)del
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NC_000006.11:g.(?_129633986)_(129637336_?)del
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NC_000006.11:g.(?_129641663)_(129641820_?)del
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NC_000006.11:g.(?_129649403)_(129663647_?)del
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NC_000006.11:g.(?_129663468)_(129663632_?)dup
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NC_000006.11:g.(?_129663468)_(129663647_?)del
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NC_000006.11:g.(?_129663478)_(129663622_?)dup
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NC_000006.11:g.(?_129670423)_(129691155_?)del
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NC_000006.11:g.(?_129674299)_(129687516_?)del
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NC_000006.11:g.(?_129687344)_(129691155_?)del
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NC_000006.11:g.(?_129687354)_(129723642_?)del
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NC_000006.11:g.(?_129691027)_(129704388_?)del
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NC_000006.11:g.(?_129704247)_(129704398_?)del
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NC_000006.11:g.(?_129712616)_(129712818_?)del
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NC_000006.11:g.(?_129712616)_(129794517_?)del
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NC_000006.11:g.(?_129722349)_(129723652_?)del
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NC_000006.11:g.(?_129748887)_(129781479_?)del
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NC_000006.11:g.(?_129766802)_(129837502_?)del
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NC_000006.11:g.(?_129777460)_(129837492_?)del
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NC_000006.11:g.(?_129785425)_(129802594_?)del
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NC_000006.11:g.(?_129794339)_(129837492_?)del
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NC_000006.11:g.(?_129807599)_(129807787_?)del
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NC_000006.11:g.(?_129813026)_(129813648_?)del
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NC_000006.11:g.(?_129813026)_(129824445_?)del
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NC_000006.11:g.(?_129823784)_(129837492_?)del
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NC_000006.11:g.(?_129826335)_(129826510_?)del
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NC_000006.11:g.(?_129837325)_(129837502_?)del
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NC_000006.11:g.(?_152485278)_(152485480_?)del
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NC_000006.11:g.(?_152650845)_(152653045_?)del
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NC_000006.11:g.(?_152949380)_(154441965_?)del
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NC_000006.11:g.(?_75796253)_(75912518_?)del
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NC_000006.11:g.(?_75833026)_(75912508_?)del
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NC_000006.11:g.(?_75855798)_(75861023_?)del
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NC_000006.12:g.(?_128883226)_(129516367_?)del
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NC_000006.12:g.(?_128883236)_(128883367_?)del
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NC_000006.12:g.(?_128883236)_(129098425_?)del
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NC_000006.12:g.(?_129049908)_(129280157_?)del
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NC_000006.12:g.(?_129059774)_(129098425_?)del
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NC_000006.12:g.(?_129165566)_(129192863_?)del
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NC_000006.12:g.(?_129177696)_(129177876_?)del
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NC_000006.12:g.(?_129287827)_(129288078_?)del
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NC_000006.12:g.(?_129349278)_(129403979_?)del
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NC_000006.12:g.(?_129349288)_(129403969_?)del
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NC_000006.12:g.(?_129390037)_(129391573_?)del
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NC_000006.12:g.(?_129486464)_(129486632_?)del
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NC_000006.12:g.(?_129486474)_(129486622_?)del
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NC_000006.12:g.(?_129516170)_(129516367_?)del
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NC_000006.12:g.(?_152122416)_(153426916_?)del
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NC_000006.12:g.128960376_129175759del
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NC_000006.12:g.129059783GA[1]
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NC_000006.12:g.129464290_129464296del
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NC_000007.13:g.(?_128469483)_(128500328_?)del
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NC_000007.13:g.(?_128470682)_(128498587_?)del
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NC_000007.13:g.(?_128470692)_(128498577_?)del
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NC_000007.13:g.(?_128470692)_(128694824_?)del
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NC_000007.13:g.(?_128475360)_(128478877_?)del
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NC_000007.13:g.(?_128480619)_(128486474_?)del
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NC_000007.13:g.(?_128487731)_(128488142_?)del
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NC_000007.13:g.(?_128494167)_(128545556_?)del
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NC_000007.13:g.(?_16131310)_(16255832_?)del
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NC_000007.13:g.(?_16131320)_(16255842_?)del
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NC_000007.13:g.(?_16131320)_(16460947_?)del
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NC_000007.13:g.(?_16255671)_(16317871_?)del
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NC_000007.13:g.(?_16297995)_(16317871_?)del
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NC_000007.13:g.(?_16297995)_(16348272_?)del
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NC_000007.13:g.(?_16297995)_(16415886_?)del
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NC_000007.13:g.(?_16317734)_(16317871_?)del
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NC_000007.13:g.(?_16341026)_(16341111_?)del
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NC_000007.13:g.(?_16341026)_(16348272_?)del
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NC_000007.13:g.(?_16341026)_(16415886_?)del
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NC_000007.13:g.(?_16348128)_(16445982_?)del
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NC_000007.13:g.(?_16415697)_(16460947_?)del
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NC_000007.13:g.(?_16445666)_(16445982_?)del
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NC_000007.13:g.(?_16460671)_(16460947_?)del
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NC_000007.14:g.(?_128830618)_(128858543_?)del
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NC_000007.14:g.(?_128848551)_(128848992_?)del
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|
NC_000023.11:g.(?_32287509)_(32390201_?)del
|
|
|
|
NC_000023.11:g.(?_32287519)_(32287711_?)del
|
|
|
|
NC_000023.11:g.(?_32287519)_(32310286_?)del
|
|
|
|
NC_000023.11:g.(?_32287519)_(32310286_?)dup
|
|
|
|
NC_000023.11:g.(?_32287519)_(32365209_?)del
|
|
|
|
NC_000023.11:g.(?_32287519)_(32386475_?)del
|
|
|
|
NC_000023.11:g.(?_32287519)_(32390191_?)del
|
|
|
|
NC_000023.11:g.(?_32287519)_(32823850_?)del
|
|
|
|
NC_000023.11:g.(?_32287529)_(32310276_?)del
|
|
|
|
NC_000023.11:g.(?_32310062)_(32651077_?)del
|
|
|
|
NC_000023.11:g.(?_32310072)_(32454842_?)del
|
|
|
|
NC_000023.11:g.(?_32342080)_(32518151_?)del
|
|
|
|
NC_000023.11:g.(?_32342090)_(32699303_?)dup
|
|
|
|
NC_000023.11:g.(?_32342090)_(32849830_?)del
|
|
|
|
NC_000023.11:g.(?_32348386)_(32365219_?)del
|
|
|
|
NC_000023.11:g.(?_32362768)_(32699313_?)del
|
|
|
|
NC_000023.11:g.(?_32380500)_(32699303_?)del
|
|
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|
NC_000023.11:g.(?_32380500)_(32816650_?)del
|
|
|
|
NC_000023.11:g.(?_32386290)_(32849840_?)del
|
|
|
|
NC_000023.11:g.(?_32390061)_(32823850_?)del
|
|
|
|
NC_000023.11:g.(?_32411732)_(32573866_?)del
|
|
|
|
NC_000023.11:g.(?_32411732)_(32614473_?)del
|
|
|
|
NC_000023.11:g.(?_32411742)_(32472319_?)del
|
|
|
|
NC_000023.11:g.(?_32411742)_(32651077_?)del
|
|
|
|
NC_000023.11:g.(?_32438221)_(32518151_?)del
|
|
|
|
NC_000023.11:g.(?_32438221)_(32614473_?)del
|
|
|
|
NC_000023.11:g.(?_32438221)_(32699313_?)del
|
|
|
|
NC_000023.11:g.(?_32438221)_(32849840_?)del
|
|
|
|
NC_000023.11:g.(?_32438231)_(32573856_?)del
|
|
|
|
NC_000023.11:g.(?_32438231)_(32651077_?)del
|
|
|
|
NC_000023.11:g.(?_32438231)_(32849830_?)del
|
|
|
|
NC_000023.11:g.(?_32438241)_(32491518_?)del
|
|
|
|
NC_000023.11:g.(?_32452609)_(32699303_?)del
|
|
|
|
NC_000023.11:g.(?_32461199)_(32573856_?)del
|
|
|
|
NC_000023.11:g.(?_32461199)_(32844870_?)del
|
|
|
|
NC_000023.11:g.(?_32461199)_(32849830_?)del
|
|
|
|
NC_000023.11:g.(?_32468488)_(32849830_?)del
|
|
|
|
NC_000023.11:g.(?_32472144)_(32651077_?)del
|
|
|
|
NC_000023.11:g.(?_32472154)_(32651077_?)del
|
|
|
|
NC_000023.11:g.(?_32484899)_(32699313_?)del
|
|
|
|
NC_000023.11:g.(?_32484899)_(32849840_?)del
|
|
|
|
NC_000023.11:g.(?_32484909)_(32501852_?)del
|
|
|
|
NC_000023.11:g.(?_32491267)_(32545344_?)del
|
|
|
|
NC_000023.11:g.(?_32491267)_(32849830_?)del
|
|
|
|
NC_000023.11:g.(?_32501735)_(32501862_?)del
|
|
|
|
NC_000023.11:g.(?_32501745)_(32501852_?)del
|
|
|
|
NC_000023.11:g.(?_32517988)_(32518151_?)del
|
|
|
|
NC_000023.11:g.(?_32517988)_(33339285_?)del
|
|
|
|
NC_000023.11:g.(?_32517998)_(32651077_?)del
|
|
|
|
NC_000023.11:g.(?_32518008)_(32699293_?)del
|
|
|
|
NC_000023.11:g.(?_32545139)_(32645172_?)del
|
|
|
|
NC_000023.11:g.(?_32545149)_(32573856_?)dup
|
|
|
|
NC_000023.11:g.(?_32545149)_(32595886_?)del
|
|
|
|
NC_000023.11:g.(?_32545159)_(32849820_?)del
|
|
|
|
NC_000023.11:g.(?_32565692)_(32626362_?)del
|
|
|
|
NC_000023.11:g.(?_32573520)_(32573856_?)del
|
|
|
|
NC_000023.11:g.(?_32573520)_(32849830_?)del
|
|
|
|
NC_000023.11:g.(?_32573530)_(32699293_?)del
|
|
|
|
NC_000023.11:g.(?_32595737)_(32595896_?)del
|
|
|
|
NC_000023.11:g.(?_32595737)_(32699313_?)del
|
|
|
|
NC_000023.11:g.(?_32595737)_(32823850_?)del
|
|
|
|
NC_000023.11:g.(?_32595747)_(32595886_?)del
|
|
|
|
NC_000023.11:g.(?_32595747)_(32651077_?)del
|
|
|
|
NC_000023.11:g.(?_32595757)_(32849820_?)del
|
|
|
|
NC_000023.11:g.(?_32614283)_(32645172_?)del
|
|
|
|
NC_000023.11:g.(?_32614283)_(32849840_?)del
|
|
|
|
NC_000023.11:g.(?_32614293)_(32614463_?)dup
|
|
|
|
NC_000023.11:g.(?_32614293)_(32816650_?)del
|
|
|
|
NC_000023.11:g.(?_32626362)_(32849830_?)del
|
|
|
|
NC_000023.11:g.(?_32644112)_(32651077_?)del
|
|
|
|
NC_000023.11:g.(?_32644122)_(32644323_?)del
|
|
|
|
NC_000023.11:g.(?_32644122)_(32645162_?)dup
|
|
|
|
NC_000023.11:g.(?_32644122)_(32651077_?)del
|
|
|
|
NC_000023.11:g.(?_32644122)_(32823850_?)del
|
|
|
|
NC_000023.11:g.(?_32644132)_(32849820_?)del
|
|
|
|
NC_000023.11:g.(?_32697850)_(32699313_?)del
|
|
|
|
NC_000023.11:g.(?_32697850)_(32849840_?)del
|
|
|
|
NC_000023.11:g.(?_32697860)_(32699303_?)dup
|
|
|
|
NC_000023.11:g.(?_32699102)_(32699303_?)del
|
|
|
|
NC_000023.11:g.(?_32809473)_(32816660_?)del
|
|
|
|
NC_000023.11:g.(?_32809473)_(32823850_?)del
|
|
|
|
NC_000023.11:g.(?_32809473)_(32849840_?)del
|
|
|
|
NC_000023.11:g.(?_32809473)_(33020220_?)del
|
|
|
|
NC_000023.11:g.(?_32809483)_(32823850_?)del
|
|
|
|
NC_000023.11:g.(?_32809483)_(32844870_?)del
|
|
|
|
NC_000023.11:g.(?_32809483)_(32849830_?)del
|
|
|
|
NC_000023.11:g.(?_32816458)_(32816650_?)dup
|
|
|
|
NC_000023.11:g.(?_32816458)_(32844870_?)dup
|
|
|
|
NC_000023.11:g.(?_32816458)_(32849830_?)del
|
|
|
|
NC_000023.11:g.(?_32816458)_(33211312_?)del
|
|
|
|
NC_000023.11:g.(?_32823275)_(32823850_?)del
|
|
|
|
NC_000023.11:g.(?_32823275)_(32849840_?)del
|
|
|
|
NC_000023.11:g.(?_32823285)_(32849830_?)del
|
|
|
|
NC_000023.11:g.(?_32844773)_(32849830_?)del
|
|
|
|
NC_000023.11:g.(?_32844773)_(33020210_?)dup
|
|
|
|
NC_000023.11:g.(?_32849718)_(32849830_?)del
|
|
|
|
NC_000023.11:g.(?_33174335)_(33211366_?)del
|
|
|
|
NC_000023.11:g.(?_33211262)_(33211366_?)del
|
|
|
|
NC_000023.11:g.150583230_150648535del
|
|
|
|
NC_000023.11:g.31147519dup
|
rs1555998436
|
|
|
NC_000023.11:g.31444471_31679596dup
|
|
|
|
NC_000023.11:g.31762447_31872385del
|
|
|
|
NC_000023.11:g.32390170_32390182del
|
rs2147621477
|
|
|
NC_000023.11:g.32545149_32651077dup
|
|
|
|
NC_000023.11:g.32565874_32565883dup
|
rs2149095626
|
|
|
NC_000023.11:g.32823388del
|
rs2078438031
|
|
|
NC_000023.11:g.64951692_65166933del
|
|
|
|
NC_012920.1(MT-ATP6):m.8969G>A
|
rs794726857
|
|
|
NC_012920.1(MT-CO3):m.9379G>A
|
rs267606615
|
|
|
NC_012920.1(MT-CYB):m.14846G>A
|
rs207459998
|
|
|
NC_012920.1(MT-CYB):m.15150G>A
|
rs207460000
|
|
|
NC_012920.1(MT-CYB):m.15242G>A
|
rs207459999
|
|
|
NC_012920.1(MT-CYB):m.583G>A
|
rs118203885
|
|
|
NC_012920.1(MT-CYB):m.586G>A
|
rs387906734
|
|
|
NC_012920.1(MT-CYB):m.616T>C
|
rs387906420
|
|
|
NC_012920.1(MT-ND1):m.1606G>A
|
rs199476143
|
|
|
NC_012920.1(MT-ND1):m.1624C>T
|
rs199476144
|
|
|
NC_012920.1(MT-ND1):m.1644G>A
|
rs587776441
|
|
|
NC_012920.1(MT-ND1):m.1659T>C
|
rs1603218609
|
|
|
NC_012920.1(MT-ND1):m.3380G>A
|
rs1603218926
|
|
|
NC_012920.1(MT-ND1):m.3481G>A
|
rs587776433
|
|
|
NC_012920.1(MT-ND1):m.3697G>A
|
rs199476122
|
|
|
NC_012920.1(MT-ND1):m.3946G>A
|
rs199476123
|
|
|
NC_012920.1(MT-ND1):m.3949T>C
|
rs199476124
|
|
|
NC_012920.1(MT-ND4):m.11084A>G
|
rs199476113
|
|
|
NC_012920.1(MT-ND5):m.12425del
|
rs1603223730
|
|
|
NC_012920.1(MT-ND5):m.12770A>G
|
rs267606894
|
|
|
NC_012920.1(MT-ND5):m.13042G>A
|
rs267606898
|
|
|
NC_012920.1(MT-ND5):m.13045A>C
|
rs267606895
|
|
|
NC_012920.1(MT-ND5):m.13084A>T
|
rs267606896
|
|
|
NC_012920.1(MT-ND5):m.13094T>C
|
rs1603224029
|
|
|
NC_012920.1(MT-ND5):m.13513G>A
|
rs267606897
|
|
|
NC_012920.1(MT-ND6):m.14453G>A
|
rs199476107
|
|
|
NC_012920.1(MT-TA):m.5591G>A
|
rs121434458
|
|
|
NC_012920.1(MT-TA):m.5610G>A
|
rs786200951
|
|
|
NC_012920.1(MT-TA):m.5631G>A
|
rs786200950
|
|
|
NC_012920.1(MT-TC):m.5814T>C
|
rs200077222
|
|
|
NC_012920.1(MT-TE):m.14674T>C
|
rs387906421
|
|
|
NC_012920.1(MT-TE):m.14674T>G
|
rs387906421
|
|
|
NC_012920.1(MT-TE):m.14709T>C
|
rs121434453
|
|
|
NC_012920.1(MT-TE):m.14710G>A
|
rs1603224840
|
|
|
NC_012920.1(MT-TE):m.14739G>A
|
rs1603224850
|
|
|
NC_012920.1(MT-TH):m.12147G>A
|
rs121434474
|
|
|
NC_012920.1(MT-TI):m.4284G>A
|
rs121434468
|
|
|
NC_012920.1(MT-TI):m.4296G>A
|
rs1603219393
|
|
|
NC_012920.1(MT-TI):m.4298G>A
|
rs1603219395
|
|
|
NC_012920.1(MT-TK):m.8313G>A
|
rs118192101
|
|
|
NC_012920.1(MT-TK):m.8344A>G
|
rs118192098
|
|
|
NC_012920.1(MT-TK):m.8356T>C
|
rs118192099
|
|
|
NC_012920.1(MT-TK):m.8362T>G
|
rs1603221423
|
|
|
NC_012920.1(MT-TK):m.8363G>A
|
rs118192100
|
|
|
NC_012920.1(MT-TL1):m.3242G>A
|
rs193303018
|
|
|
NC_012920.1(MT-TL1):m.3243A>G
|
rs199474657
|
|
|
NC_012920.1(MT-TL1):m.3243A>T
|
rs199474657
|
|
|
NC_012920.1(MT-TL1):m.3251A>G
|
rs199474662
|
|
|
NC_012920.1(MT-TL1):m.3252A>G
|
rs199474661
|
|
|
NC_012920.1(MT-TL1):m.3255G>A
|
rs1603218856
|
|
|
NC_012920.1(MT-TL1):m.3256C>T
|
rs199474659
|
|
|
NC_012920.1(MT-TL1):m.3260A>G
|
rs199474663
|
|
|
NC_012920.1(MT-TL1):m.3271T>C
|
rs199474658
|
|
|
NC_012920.1(MT-TL1):m.3274A>G
|
rs199474666
|
|
|
NC_012920.1(MT-TL1):m.3291T>C
|
rs869312463
|
|
|
NC_012920.1(MT-TL1):m.3302A>G
|
rs1603218878
|
|
|
NC_012920.1(MT-TL1):m.3303C>T
|
rs199474660
|
|
|
NC_012920.1(MT-TL2):m.12276G>A
|
rs1603223645
|
|
|
NC_012920.1(MT-TL2):m.12315G>A
|
rs121434462
|
|
|
NC_012920.1(MT-TL2):m.12320A>G
|
rs121434463
|
|
|
NC_012920.1(MT-TM):m.4409T>C
|
rs118203884
|
|
|
NC_012920.1(MT-TN):m.5728T>C
|
rs199476132
|
|
|
NC_012920.1(MT-TP):m.15967G>A
|
rs199474701
|
|
|
NC_012920.1(MT-TP):m.15990C>T
|
rs199474699
|
|
|
NC_012920.1(MT-TP):m.16002T>C
|
rs1603225633
|
|
|
NC_012920.1(MT-TQ):m.4332G>A
|
rs199476141
|
|
|
NC_012920.1(MT-TS1):m.7445A>G
|
rs199474818
|
|
|
NC_012920.1(MT-TS1):m.7471dup
|
rs111033319
|
|
|
NC_012920.1(MT-TS1):m.7497G>A
|
rs387906419
|
|
|
NC_012920.1(MT-TS1):m.7511T>C
|
rs199474821
|
|
|
NC_012920.1(MT-TS1):m.7512T>C
|
rs199474817
|
|
|
NC_012920.1(MT-TS2):m.12207G>A
|
rs118203889
|
|
|
NC_012920.1(MT-TS2):m.12258C>T
|
rs118203888
|
|
|
NC_012920.1(MT-TS2):m.12264C>T
|
rs1603223642
|
|
|
NC_012920.1(MT-TT):m.15915G>A
|
rs1603225588
|
|
|
NC_012920.1(MT-TW):m.5521G>A
|
rs199474673
|
|
|
NC_012920.1(MT-TW):m.5532G>A
|
rs199474674
|
|
|
NC_012920.1(MT-TW):m.5536_5537insT
|
rs1603220010
|
|
|
NC_012920.1(MT-TW):m.5538G>A
|
rs1603220012
|
|
|
NC_012920.1(MT-TW):m.5540G>A
|
rs1603220014
|
|
|
NC_012920.1(MT-TW):m.5543T>C
|
rs1603220016
|
|
|
NC_012920.1(MT-TY):m.5877C>T
|
rs118203893
|
|
|
NC_012920.1(MT-TY):m.5888del
|
rs118203892
|
|
|
NG_009929.2:g.523149_586240del
|
|
|
|
NG_033179.1:g.(5183_64397)_(64560_68128)_del
|
|
|
|
NG_042181.1:(g.89607_91434)_(105703_107097)del
|
|
|
|
NM_000023.2(SGCA):c.586delG
|
rs1220674950
|
|
|
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
|
|
|
|
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)
|
rs1598277713
|
|
|
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)
|
rs763372958
|
|
|
NM_000023.4(SGCA):c.105del (p.Phe36fs)
|
rs2144493323
|
|
|
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs)
|
rs2144493427
|
|
|
NM_000023.4(SGCA):c.168del (p.Ala57fs)
|
rs1555568264
|
|
|
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)
|
rs766400853
|
|
|
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
|
|
|
|
NM_000023.4(SGCA):c.203G>A (p.Gly68Glu)
|
rs2144494148
|
|
|
NM_000023.4(SGCA):c.203del (p.Gly68fs)
|
rs1567739228
|
|
|
NM_000023.4(SGCA):c.218C>G (p.Pro73Arg)
|
|
|
|
NM_000023.4(SGCA):c.225del (p.Trp75fs)
|
|
|
|
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)
|
rs1555568335
|
|
|
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
|
|
|
|
NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter)
|
rs1598265248
|
|
|
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs)
|
rs1567739339
|
|
|
NM_000023.4(SGCA):c.238C>T (p.Gln80Ter)
|
rs2144494297
|
|
|
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)
|
rs398123098
|
|
|
NM_000023.4(SGCA):c.250dup (p.His84fs)
|
|
|
|
NM_000023.4(SGCA):c.265C>T (p.Leu89Phe)
|
rs773161308
|
|
|
NM_000023.4(SGCA):c.26dup (p.Leu10fs)
|
rs1904771410
|
|
|
NM_000023.4(SGCA):c.292C>G (p.Arg98Gly)
|
rs138945081
|
|
|
NM_000023.4(SGCA):c.293G>C (p.Arg98Pro)
|
rs137852621
|
|
|
NM_000023.4(SGCA):c.29_33del (p.Leu10fs)
|
|
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
|
|
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
|
|
|
|
NM_000023.4(SGCA):c.317_318del (p.Thr106fs)
|
rs1567739735
|
|
|
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)
|
rs1555568518
|
|
|
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)
|
rs752640127
|
|
|
NM_000023.4(SGCA):c.364C>G (p.Leu122Val)
|
rs1567739857
|
|
|
NM_000023.4(SGCA):c.377dup (p.Asp126fs)
|
rs1905070544
|
|
|
NM_000023.4(SGCA):c.385+1G>T
|
|
|
|
NM_000023.4(SGCA):c.391del (p.Leu131fs)
|
rs144356125
|
|
|
NM_000023.4(SGCA):c.402C>A (p.Tyr134Ter)
|
rs780264754
|
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
|
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)
|
rs886043221
|
|
|
NM_000023.4(SGCA):c.408del (p.Glu137fs)
|
rs1905103030
|
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
|
NM_000023.4(SGCA):c.410A>G (p.Glu137Gly)
|
rs397514451
|
|
|
NM_000023.4(SGCA):c.464del (p.Ser155fs)
|
rs1555568775
|
|
|
NM_000023.4(SGCA):c.488del (p.Gly163fs)
|
|
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
|
NM_000023.4(SGCA):c.524T>C (p.Val175Ala)
|
rs137852622
|
|
|
NM_000023.4(SGCA):c.585-2A>C
|
rs1555568965
|
|
|
NM_000023.4(SGCA):c.596del (p.Lys199fs)
|
|
|
|
NM_000023.4(SGCA):c.618_619del (p.Ser207fs)
|
|
|
|
NM_000023.4(SGCA):c.658_659del (p.Ala220fs)
|
rs1905167458
|
|
|
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter)
|
rs1567741398
|
|
|
NM_000023.4(SGCA):c.70C>T (p.Gln24Ter)
|
rs2144493135
|
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
|
NM_000023.4(SGCA):c.747+1G>A
|
rs886043392
|
|
|
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)
|
rs1057517377
|
|
|
NM_000023.4(SGCA):c.770del (p.Pro257fs)
|
rs886043962
|
|
|
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs)
|
rs1905254738
|
|
|
NM_000023.4(SGCA):c.801dup (p.Ile268fs)
|
rs1905256830
|
|
|
NM_000023.4(SGCA):c.828C>A (p.Cys276Ter)
|
rs2144500924
|
|
|
NM_000023.4(SGCA):c.862del (p.Val288fs)
|
rs2144501024
|
|
|
NM_000023.4(SGCA):c.86dup (p.His29fs)
|
rs1904986620
|
|
|
NM_000023.4(SGCA):c.904del (p.Leu302fs)
|
rs2144501172
|
|
|
NM_000023.4(SGCA):c.905T>G (p.Leu302Arg)
|
rs760989961
|
|
|
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)
|
rs1555569329
|
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
|
NM_000023.4(SGCA):c.957-1G>T
|
rs2144502043
|
|
|
NM_000023.4(SGCA):c.95T>C (p.Val32Ala)
|
rs1017592342
|
|
|
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)
|
rs796065318
|
|
|
NM_000069.3(CACNA1S):c.1084del (p.Asp362fs)
|
|
|
|
NM_000069.3(CACNA1S):c.1189_1190del (p.Ser397fs)
|
|
|
|
NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser)
|
|
|
|
NM_000069.3(CACNA1S):c.2225C>A (p.Pro742Gln)
|
|
|
|
NM_000069.3(CACNA1S):c.2371del (p.Leu791fs)
|
|
|
|
NM_000069.3(CACNA1S):c.4099C>G (p.Leu1367Val)
|
rs1660628086
|
|
|
NM_000069.3(CACNA1S):c.4453C>T (p.Gln1485Ter)
|
|
|
|
NM_000069.3(CACNA1S):c.4516_4517del (p.Leu1506fs)
|
|
|
|
NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs)
|
|
|
|
NM_000069.3(CACNA1S):c.825C>A (p.Phe275Leu)
|
|
|
|
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)
|
rs863224965
|
|
|
NM_000070.2(CAPN3):c.[1319G>A];[319G>T]
|
|
|
|
NM_000070.3(CAPN3):c.1002del (p.His334fs)
|
|
|
|
NM_000070.3(CAPN3):c.1008C>G (p.Tyr336Ter)
|
|
|
|
NM_000070.3(CAPN3):c.100del (p.Ala34fs)
|
rs2052593499
|
|
|
NM_000070.3(CAPN3):c.1012_1013del (p.Val338fs)
|
rs2141176996
|
|
|
NM_000070.3(CAPN3):c.1029+1G>A
|
rs2141177054
|
|
|
NM_000070.3(CAPN3):c.1030-1G>A
|
rs1555421263
|
|
|
NM_000070.3(CAPN3):c.1043del (p.Gly348fs)
|
rs781013226
|
|
|
NM_000070.3(CAPN3):c.1050del (p.Lys350_Val351insTer)
|
|
|
|
NM_000070.3(CAPN3):c.1055del (p.Lys352fs)
|
|
|
|
NM_000070.3(CAPN3):c.1061T>G (p.Val354Gly)
|
rs1555421271
|
|
|
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)
|
rs794727895
|
|
|
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter)
|
rs1555421280
|
|
|
NM_000070.3(CAPN3):c.107del (p.Gly36fs)
|
|
|
|
NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)
|
rs267606703
|
|
|
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)
|
rs1595828703
|
|
|
NM_000070.3(CAPN3):c.1115+2T>C
|
rs1057524468
|
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
|
NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter)
|
rs1555421523
|
|
|
NM_000070.3(CAPN3):c.1120_1171del (p.Lys374fs)
|
|
|
|
NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter)
|
rs1555421524
|
|
|
NM_000070.3(CAPN3):c.1143del (p.Asp382fs)
|
|
|
|
NM_000070.3(CAPN3):c.1162C>T (p.Gln388Ter)
|
|
|
|
NM_000070.3(CAPN3):c.1193+6T>A
|
rs1555421532
|
|
|
NM_000070.3(CAPN3):c.1194-2A>G
|
rs2053804014
|
|
|
NM_000070.3(CAPN3):c.1207_1216del (p.Asp403fs)
|
|
|
|
NM_000070.3(CAPN3):c.1236_1288dup (p.Thr430fs)
|
|
|
|
NM_000070.3(CAPN3):c.1276_1277del (p.Leu426fs)
|
rs1555421854
|
|
|
NM_000070.3(CAPN3):c.1298_1299del (p.Val433fs)
|
rs1293496023
|
|
|
NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)
|
|
|
|
NM_000070.3(CAPN3):c.1322del (p.Gly441fs)
|
rs1555421871
|
|
|
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro)
|
rs1595834751
|
|
|
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)
|
rs773827877
|
|
|
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)
|
rs773827877
|
|
|
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly)
|
rs776043976
|
|
|
NM_000070.3(CAPN3):c.1343G>T (p.Arg448Leu)
|
rs863224956
|
|
|
NM_000070.3(CAPN3):c.1354+1G>A
|
|
|
|
NM_000070.3(CAPN3):c.1355-1G>C
|
rs747557404
|
|
|
NM_000070.3(CAPN3):c.1357dup (p.Thr453fs)
|
|
|
|
NM_000070.3(CAPN3):c.1363T>C (p.Trp455Arg)
|
rs2141199370
|
|
|
NM_000070.3(CAPN3):c.136_145del (p.Ile46fs)
|
|
|
|
NM_000070.3(CAPN3):c.1375C>T (p.Gln459Ter)
|
|
|
|
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del)
|
rs746075428
|
|
|
NM_000070.3(CAPN3):c.1455del (p.Met485fs)
|
rs2053876698
|
|
|
NM_000070.3(CAPN3):c.1456C>T (p.Gln486Ter)
|
rs2141199686
|
|
|
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)
|
rs863224958
|
|
|
NM_000070.3(CAPN3):c.1470del (p.Lys491fs)
|
|
|
|
NM_000070.3(CAPN3):c.1485del (p.Ala497fs)
|
rs1595837172
|
|
|
NM_000070.3(CAPN3):c.1486G>A (p.Gly496Arg)
|
rs761637940
|
|
|
NM_000070.3(CAPN3):c.1507_1511del (p.Gly503fs)
|
|
|
|
NM_000070.3(CAPN3):c.1513_1519dup (p.Tyr507fs)
|
|
|
|
NM_000070.3(CAPN3):c.1515_1518dup (p.Tyr507fs)
|
rs2141199970
|
|
|
NM_000070.3(CAPN3):c.1524+1G>A
|
rs1275289254
|
|
|
NM_000070.3(CAPN3):c.1524+1G>C
|
|
|
|
NM_000070.3(CAPN3):c.1524+1G>T
|
rs1275289254
|
|
|
NM_000070.3(CAPN3):c.1536+1G>T
|
|
|
|
NM_000070.3(CAPN3):c.1552C>T (p.Gln518Ter)
|
|
|
|
NM_000070.3(CAPN3):c.1561C>T (p.Gln521Ter)
|
rs2053910936
|
|
|
NM_000070.3(CAPN3):c.1576del (p.Leu526fs)
|
rs1595838545
|
|
|
NM_000070.3(CAPN3):c.1590dup (p.Lys531fs)
|
rs2141202919
|
|
|
NM_000070.3(CAPN3):c.1657G>A (p.Glu553Lys)
|
rs767739787
|
|
|
NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter)
|
rs752848213
|
|
|
NM_000070.3(CAPN3):c.1681T>C (p.Tyr561His)
|
|
|
|
NM_000070.3(CAPN3):c.1693C>T (p.Gln565Ter)
|
|
|
|
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)
|
rs727503839
|
|
|
NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser)
|
rs886044483
|
|
|
NM_000070.3(CAPN3):c.1712del (p.Leu571fs)
|
|
|
|
NM_000070.3(CAPN3):c.1722del (p.Ser575fs)
|
rs1366387924
|
|
|
NM_000070.3(CAPN3):c.1740_1743del (p.Ser581fs)
|
rs2141203435
|
|
|
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)
|
rs886042573
|
|
|
NM_000070.3(CAPN3):c.1745+1G>A
|
|
|
|
NM_000070.3(CAPN3):c.1771del (p.Asp591fs)
|
rs754761503
|
|
|
NM_000070.3(CAPN3):c.1782+1072G>C
|
rs2053974373
|
|
|
NM_000070.3(CAPN3):c.1788_1791del (p.Lys598fs)
|
rs2141210355
|
|
|
NM_000070.3(CAPN3):c.1792_1795del (p.Lys598fs)
|
|
|
|
NM_000070.3(CAPN3):c.1795del (p.Thr599fs)
|
|
|
|
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)
|
rs80338803
|
|
|
NM_000070.3(CAPN3):c.1800+1G>A
|
|
|
|
NM_000070.3(CAPN3):c.1838del (p.Lys613fs)
|
rs1555422832
|
|
|
NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter)
|
rs1566983844
|
|
|
NM_000070.3(CAPN3):c.1858del (p.Glu620fs)
|
|
|
|
NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs)
|
rs2054085839
|
|
|
NM_000070.3(CAPN3):c.1895_1913dup (p.Pro639fs)
|
rs2141216768
|
|
|
NM_000070.3(CAPN3):c.1897C>T (p.Gln633Ter)
|
rs1595844413
|
|
|
NM_000070.3(CAPN3):c.1903C>T (p.Gln635Ter)
|
|
|
|
NM_000070.3(CAPN3):c.1933del (p.Asp645fs)
|
rs1595845459
|
|
|
NM_000070.3(CAPN3):c.1936C>T (p.Gln646Ter)
|
|
|
|
NM_000070.3(CAPN3):c.193del (p.His65fs)
|
rs2141102601
|
|
|
NM_000070.3(CAPN3):c.1963del (p.Arg655fs)
|
rs1566984441
|
|
|
NM_000070.3(CAPN3):c.1974_1975insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGTTCACGCCATTCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCGGAACATTTTC (p.Lys659fs)
|
|
|
|
NM_000070.3(CAPN3):c.1977_1978delinsCT (p.Lys659_Gln660delinsAsnTer)
|
rs2141219910
|
|
|
NM_000070.3(CAPN3):c.1978C>T (p.Gln660Ter)
|
|
|
|
NM_000070.3(CAPN3):c.1983dup (p.Ala662fs)
|
|
|
|
NM_000070.3(CAPN3):c.1985del (p.Ala662fs)
|
rs2141219970
|
|
|
NM_000070.3(CAPN3):c.1986del (p.Gly663fs)
|
|
|
|
NM_000070.3(CAPN3):c.1992+1G>A
|
|
|
|
NM_000070.3(CAPN3):c.1992+1G>T
|
rs863224961
|
|
|
NM_000070.3(CAPN3):c.1999G>T (p.Glu667Ter)
|
rs2141221307
|
|
|
NM_000070.3(CAPN3):c.1999dup (p.Glu667fs)
|
rs886044004
|
|
|
NM_000070.3(CAPN3):c.2019dup (p.Lys674fs)
|
rs2141221357
|
|
|
NM_000070.3(CAPN3):c.2035_2036insAAACA (p.Thr679fs)
|
rs1555423021
|
|
|
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs)
|
rs886042418
|
|
|
NM_000070.3(CAPN3):c.2048_2051del (p.Lys683fs)
|
rs2054150380
|
|
|
NM_000070.3(CAPN3):c.2050+1G>A
|
rs768374736
|
|
|
NM_000070.3(CAPN3):c.2050+1G>C
|
rs768374736
|
|
|
NM_000070.3(CAPN3):c.2050+1del
|
rs1555423027
|
|
|
NM_000070.3(CAPN3):c.2050+1dup
|
rs2141221533
|
|
|
NM_000070.3(CAPN3):c.2051-1G>T
|
rs886042108
|
|
|
NM_000070.3(CAPN3):c.2069_2070del (p.His690fs)
|
rs1555423046
|
|
|
NM_000070.3(CAPN3):c.2118_2121del (p.Asp707fs)
|
rs1595846922
|
|
|
NM_000070.3(CAPN3):c.2119G>C (p.Asp707His)
|
rs886044427
|
|
|
NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)
|
rs794727318
|
|
|
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp)
|
rs770894443
|
|
|
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)
|
rs774048414
|
|
|
NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter)
|
rs2054179951
|
|
|
NM_000070.3(CAPN3):c.2179del (p.Trp727fs)
|
rs886042964
|
|
|
NM_000070.3(CAPN3):c.219del (p.Leu74fs)
|
rs2141102673
|
|
|
NM_000070.3(CAPN3):c.2201_2202del (p.His733_Tyr734insTer)
|
rs2054185246
|
|
|
NM_000070.3(CAPN3):c.2201del (p.Tyr734fs)
|
rs2141224217
|
|
|
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs)
|
rs587780289
|
|
|
NM_000070.3(CAPN3):c.2212C>T (p.Gln738Ter)
|
rs1595847257
|
|
|
NM_000070.3(CAPN3):c.2217C>G (p.Ser739=)
|
rs148851444
|
|
|
NM_000070.3(CAPN3):c.2226_2240del (p.Ile742_Glu746del)
|
|
|
|
NM_000070.3(CAPN3):c.2230del (p.Ser744fs)
|
rs2054186817
|
|
|
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter)
|
rs147774793
|
|
|
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs)
|
rs398123146
|
|
|
NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly)
|
rs768090444
|
|
|
NM_000070.3(CAPN3):c.2255dup (p.Asn752fs)
|
|
|
|
NM_000070.3(CAPN3):c.2257delinsAA (p.Asp753fs)
|
|
|
|
NM_000070.3(CAPN3):c.2263+1G>A
|
rs886044475
|
|
|
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)
|
rs775130589
|
|
|
NM_000070.3(CAPN3):c.2289T>G (p.Tyr763Ter)
|
|
|
|
NM_000070.3(CAPN3):c.2301del (p.Met768fs)
|
rs2141225604
|
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
|
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs)
|
rs764086484
|
|
|
NM_000070.3(CAPN3):c.2318_2321dup (p.His774fs)
|
rs1457010016
|
|
|
NM_000070.3(CAPN3):c.2337dup (p.Asp780Ter)
|
rs1447774727
|
|
|
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)
|
rs1555423217
|
|
|
NM_000070.3(CAPN3):c.2375T>A (p.Met792Lys)
|
|
|
|
NM_000070.3(CAPN3):c.237del (p.Glu79fs)
|
rs760205277
|
|
|
NM_000070.3(CAPN3):c.2380+1G>A
|
rs1555423222
|
|
|
NM_000070.3(CAPN3):c.2380+1G>T
|
rs1555423222
|
|
|
NM_000070.3(CAPN3):c.2380+2T>G
|
rs761935462
|
|
|
NM_000070.3(CAPN3):c.2381-2A>G
|
rs863224962
|
|
|
NM_000070.3(CAPN3):c.2440-2A>G
|
rs769688710
|
|
|
NM_000070.3(CAPN3):c.245del (p.Pro82fs)
|
|
|
|
NM_000070.3(CAPN3):c.249_253del (p.Glu84fs)
|
|
|
|
NM_000070.3(CAPN3):c.257del (p.Ser86fs)
|
|
|
|
NM_000070.3(CAPN3):c.261_262del (p.Phe88fs)
|
rs763649825
|
|
|
NM_000070.3(CAPN3):c.264_265del (p.Phe88fs)
|
rs2141102811
|
|
|
NM_000070.3(CAPN3):c.286C>T (p.Gln96Ter)
|
rs1476836379
|
|
|
NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu)
|
rs758058910
|
|
|
NM_000070.3(CAPN3):c.309+1G>A
|
|
|
|
NM_000070.3(CAPN3):c.319G>T (p.Glu107Ter)
|
rs1801505
|
|
|
NM_000070.3(CAPN3):c.321_330del (p.Glu107fs)
|
|
|
|
NM_000070.3(CAPN3):c.322_334dup (p.Ile112fs)
|
rs1555420075
|
|
|
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)
|
rs797045427
|
|
|
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)
|
rs121434545
|
|
|
NM_000070.3(CAPN3):c.346del (p.Ala116fs)
|
|
|
|
NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp)
|
rs2053335268
|
|
|
NM_000070.3(CAPN3):c.367C>A (p.Gln123Lys)
|
rs886043437
|
|
|
NM_000070.3(CAPN3):c.380-1G>A
|
|
|
|
NM_000070.3(CAPN3):c.380-2A>G
|
|
|
|
NM_000070.3(CAPN3):c.380G>A (p.Gly127Glu)
|
|
|
|
NM_000070.3(CAPN3):c.382del
|
rs2141160425
|
|
|
NM_000070.3(CAPN3):c.389G>A (p.Trp130Ter)
|
rs2141160443
|
|
|
NM_000070.3(CAPN3):c.390del (p.Trp130fs)
|
|
|
|
NM_000070.3(CAPN3):c.3G>T (p.Met1Ile)
|
|
|
|
NM_000070.3(CAPN3):c.402del (p.Ile135fs)
|
rs746935735
|
|
|
NM_000070.3(CAPN3):c.412dup (p.Leu138fs)
|
rs2141160513
|
|
|
NM_000070.3(CAPN3):c.424C>T (p.Gln142Ter)
|
|
|
|
NM_000070.3(CAPN3):c.427del (p.His143fs)
|
|
|
|
NM_000070.3(CAPN3):c.433del (p.Leu145fs)
|
rs2141160577
|
|
|
NM_000070.3(CAPN3):c.444del (p.Ile149fs)
|
rs2053401167
|
|
|
NM_000070.3(CAPN3):c.483del (p.Ile162fs)
|
rs863224963
|
|
|
NM_000070.3(CAPN3):c.496del (p.Gln166fs)
|
|
|
|
NM_000070.3(CAPN3):c.498+1G>A
|
rs2141160881
|
|
|
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)
|
rs1555420462
|
|
|
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)
|
rs1555420468
|
|
|
NM_000070.3(CAPN3):c.509dup (p.Tyr170Ter)
|
rs1595821204
|
|
|
NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter)
|
rs1555420475
|
|
|
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)
|
rs2053442769
|
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
|
NM_000070.3(CAPN3):c.562del (p.Gln188fs)
|
rs1566975090
|
|
|
NM_000070.3(CAPN3):c.580del (p.Ser194fs)
|
rs398123149
|
|
|
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)
|
rs727503837
|
|
|
NM_000070.3(CAPN3):c.59del (p.Pro20fs)
|
rs1555417271
|
|
|
NM_000070.3(CAPN3):c.608C>G (p.Ala203Gly)
|
rs763719290
|
|
|
NM_000070.3(CAPN3):c.60del (p.Pro22fs)
|
rs1566965857
|
|
|
NM_000070.3(CAPN3):c.616del (p.Glu206fs)
|
rs2053446296
|
|
|
NM_000070.3(CAPN3):c.626dup (p.Tyr209Ter)
|
|
|
|
NM_000070.3(CAPN3):c.632+4A>G
|
rs1555420507
|
|
|
NM_000070.3(CAPN3):c.63del (p.Pro22fs)
|
|
|
|
NM_000070.3(CAPN3):c.648C>G (p.Tyr216Ter)
|
rs138846390
|
|
|
NM_000070.3(CAPN3):c.661G>T (p.Gly221Cys)
|
rs1432632972
|
|
|
NM_000070.3(CAPN3):c.664G>C (p.Gly222Arg)
|
|
|
|
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)
|
rs1555420634
|
|
|
NM_000070.3(CAPN3):c.703del (p.Val235fs)
|
|
|
|
NM_000070.3(CAPN3):c.717del (p.Phe239fs)
|
rs776059672
|
|
|
NM_000070.3(CAPN3):c.717dup (p.Glu240Ter)
|
rs776059672
|
|
|
NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs)
|
rs1555420642
|
|
|
NM_000070.3(CAPN3):c.735_741del (p.Ser246fs)
|
|
|
|
NM_000070.3(CAPN3):c.741_751del (p.Met248fs)
|
rs1555420647
|
|
|
NM_000070.3(CAPN3):c.742_743del (p.Met248fs)
|
rs1064793620
|
|
|
NM_000070.3(CAPN3):c.746dup (p.Tyr249Ter)
|
|
|
|
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)
|
rs757448865
|
|
|
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)
|
rs794727697
|
|
|
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)
|
rs2053484604
|
|
|
NM_000070.3(CAPN3):c.796del (p.Ile266fs)
|
rs2053485642
|
|
|
NM_000070.3(CAPN3):c.801+1G>A
|
rs1459288402
|
|
|
NM_000070.3(CAPN3):c.801+2T>G
|
|
|
|
NM_000070.3(CAPN3):c.806del (p.Gly269fs)
|
rs2053509916
|
|
|
NM_000070.3(CAPN3):c.817del (p.Thr273fs)
|
|
|
|
NM_000070.3(CAPN3):c.819del (p.Tyr274fs)
|
|
|
|
NM_000070.3(CAPN3):c.848T>C (p.Met283Thr)
|
rs1555420765
|
|
|
NM_000070.3(CAPN3):c.853G>T (p.Glu285Ter)
|
|
|
|
NM_000070.3(CAPN3):c.855_864dup (p.Arg289fs)
|
rs398123150
|
|
|
NM_000070.3(CAPN3):c.871del (p.Met290_Val291insTer)
|
|
|
|
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)
|
rs863224966
|
|
|
NM_000070.3(CAPN3):c.898C>T (p.Gln300Ter)
|
rs2141170517
|
|
|
NM_000070.3(CAPN3):c.946-1G>A
|
rs80338801
|
|
|
NM_000070.3(CAPN3):c.946-1_948del
|
rs766156798
|
|
|
NM_000070.3(CAPN3):c.946-2A>G
|
rs1595826673
|
|
|
NM_000070.3(CAPN3):c.966T>A (p.Tyr322Ter)
|
rs2141176797
|
|
|
NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter)
|
rs750443041
|
|
|
NM_000070.3(CAPN3):c.985G>A (p.Gly329Arg)
|
rs1085307995
|
|
|
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)
|
rs137852801
|
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
|
NM_000116.5(TAFAZZIN):c.109+5G>A
|
rs2148185111
|
|
|
NM_000116.5(TAFAZZIN):c.109+5G>C
|
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.153C>G (p.Tyr51Ter)
|
rs104894941
|
|
|
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+1del
|
|
|
|
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)
|
rs1557191170
|
|
|
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg)
|
rs1557191170
|
|
|
NM_000116.5(TAFAZZIN):c.239-1G>A
|
rs1603377590
|
|
|
NM_000116.5(TAFAZZIN):c.239-1G>C
|
rs1603377590
|
|
|
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser)
|
rs104894942
|
|
|
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.284+110G>A
|
rs1603377747
|
|
|
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)
|
rs2148191858
|
|
|
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu)
|
rs397515741
|
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
|
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)
|
rs104894937
|
|
|
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.461-2A>G
|
rs876661038
|
|
|
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
|
|
|
|
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.580dup (p.Trp194fs)
|
rs2148211636
|
|
|
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)
|
rs794729167
|
|
|
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter)
|
rs878853656
|
|
|
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
|
|
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs)
|
rs1603381671
|
|
|
NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs)
|
rs2148212610
|
|
|
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)
|
rs1085307797
|
|
|
NM_000116.5(TAFAZZIN):c.647-1G>C
|
rs587776741
|
|
|
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)
|
rs1603381860
|
|
|
NM_000116.5(TAFAZZIN):c.700-1G>A
|
rs397515747
|
|
|
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs)
|
rs727504394
|
|
|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
|
|
NM_000116.5(TAFAZZIN):c.777+1G>A
|
rs2068606932
|
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
|
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)
|
|
|
|
NM_000117.3(EMD):c.101dup (p.Tyr34Ter)
|
rs1569552079
|
|
|
NM_000117.3(EMD):c.102C>G (p.Tyr34Ter)
|
rs2148128122
|
|
|
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)
|
rs782507902
|
|
|
NM_000117.3(EMD):c.116_143del (p.Phe39fs)
|
rs1569552080
|
|
|
NM_000117.3(EMD):c.123C>A (p.Tyr41Ter)
|
rs1060502612
|
|
|
NM_000117.3(EMD):c.125del (p.Glu42fs)
|
rs2148128139
|
|
|
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter)
|
rs782011714
|
|
|
NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)
|
rs782011714
|
|
|
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)
|
rs132630262
|
|
|
NM_000117.3(EMD):c.135dup (p.Arg46fs)
|
rs1557182301
|
|
|
NM_000117.3(EMD):c.139_140dup (p.Leu48fs)
|
rs2148128153
|
|
|
NM_000117.3(EMD):c.143dup (p.Ser49fs)
|
|
|
|
NM_000117.3(EMD):c.153del (p.Ser52fs)
|
rs876661345
|
|
|
NM_000117.3(EMD):c.153dup (p.Ser52fs)
|
rs876661345
|
|
|
NM_000117.3(EMD):c.178del (p.Ser60fs)
|
|
|
|
NM_000117.3(EMD):c.184dup (p.Ser62fs)
|
rs1557182317
|
|
|
NM_000117.3(EMD):c.187+1G>A
|
rs794729010
|
|
|
NM_000117.3(EMD):c.187+1G>T
|
rs794729010
|
|
|
NM_000117.3(EMD):c.187+2T>G
|
|
|
|
NM_000117.3(EMD):c.188-6A>G
|
rs2148128297
|
|
|
NM_000117.3(EMD):c.1A>G (p.Met1Val)
|
rs267606782
|
|
|
NM_000117.3(EMD):c.217_218dup (p.Met73fs)
|
rs1557182364
|
|
|
NM_000117.3(EMD):c.22del (p.Ser8fs)
|
|
|
|
NM_000117.3(EMD):c.251_255del (p.Leu84fs)
|
rs782452523
|
|
|
NM_000117.3(EMD):c.256C>T (p.Gln86Ter)
|
|
|
|
NM_000117.3(EMD):c.262A>T (p.Lys88Ter)
|
|
|
|
NM_000117.3(EMD):c.266-2A>G
|
rs727503036
|
|
|
NM_000117.3(EMD):c.266-3A>G
|
rs2148128459
|
|
|
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
|
|
|
|
NM_000117.3(EMD):c.2T>G (p.Met1Arg)
|
rs2148127941
|
|
|
NM_000117.3(EMD):c.391_397dup (p.Gln133fs)
|
|
|
|
NM_000117.3(EMD):c.397C>T (p.Gln133Ter)
|
|
|
|
NM_000117.3(EMD):c.399+1G>T
|
rs2148128554
|
|
|
NM_000117.3(EMD):c.399+2T>C
|
|
|
|
NM_000117.3(EMD):c.3G>A (p.Met1Ile)
|
rs886044771
|
|
|
NM_000117.3(EMD):c.428_430del (p.Ser143_Glu144delinsTer)
|
|
|
|
NM_000117.3(EMD):c.430G>T (p.Glu144Ter)
|
rs1557182560
|
|
|
NM_000117.3(EMD):c.449+1G>A
|
rs2148128756
|
|
|
NM_000117.3(EMD):c.450-2A>G
|
rs398123158
|
|
|
NM_000117.3(EMD):c.475_476del (p.Ser159fs)
|
rs2067883871
|
|
|
NM_000117.3(EMD):c.483C>G (p.Tyr161Ter)
|
rs2148128811
|
|
|
NM_000117.3(EMD):c.484C>T (p.Gln162Ter)
|
rs1557182611
|
|
|
NM_000117.3(EMD):c.506_507del (p.Pro169fs)
|
rs1422834817
|
|
|
NM_000117.3(EMD):c.512C>A (p.Ser171Ter)
|
rs886044901
|
|
|
NM_000117.3(EMD):c.512C>G (p.Ser171Ter)
|
|
|
|
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)
|
rs794729019
|
|
|
NM_000117.3(EMD):c.546T>A (p.Tyr182Ter)
|
|
|
|
NM_000117.3(EMD):c.547C>A (p.Pro183Thr)
|
rs104894806
|
|
|
NM_000117.3(EMD):c.548C>A (p.Pro183His)
|
rs104894805
|
|
|
NM_000117.3(EMD):c.561_567dup (p.Phe190fs)
|
rs2148128862
|
|
|
NM_000117.3(EMD):c.570del (p.Phe190fs)
|
rs2148128871
|
|
|
NM_000117.3(EMD):c.570dup (p.Met191fs)
|
rs2148128871
|
|
|
NM_000117.3(EMD):c.581C>G (p.Ser194Ter)
|
|
|
|
NM_000117.3(EMD):c.581_582del (p.Ser194fs)
|
rs1557182654
|
|
|
NM_000117.3(EMD):c.600G>A (p.Trp200Ter)
|
rs1557182661
|
|
|
NM_000117.3(EMD):c.607del (p.Arg203fs)
|
rs1569552106
|
|
|
NM_000117.3(EMD):c.60del (p.Asn20fs)
|
rs886041854
|
|
|
NM_000117.3(EMD):c.615del (p.Ile206fs)
|
rs2148128932
|
|
|
NM_000117.3(EMD):c.619del (p.Arg207fs)
|
rs2067885544
|
|
|
NM_000117.3(EMD):c.621del (p.Pro208fs)
|
rs1557182670
|
|
|
NM_000117.3(EMD):c.631del (p.Arg211fs)
|
rs2148128957
|
|
|
NM_000117.3(EMD):c.640_644dup (p.Gln219fs)
|
rs1557182676
|
|
|
NM_000117.3(EMD):c.643_653dup (p.Gln219fs)
|
rs2148128961
|
|
|
NM_000117.3(EMD):c.643del (p.Ala215fs)
|
|
|
|
NM_000117.3(EMD):c.650_654del (p.Leu217fs)
|
rs730880352
|
|
|
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)
|
rs730880352
|
|
|
NM_000117.3(EMD):c.651_655dup (p.Gln219fs)
|
|
|
|
NM_000117.3(EMD):c.674_678del (p.Leu225fs)
|
rs1557182692
|
|
|
NM_000117.3(EMD):c.674del (p.Leu225fs)
|
|
|
|
NM_000117.3(EMD):c.676_677del (p.Trp226fs)
|
|
|
|
NM_000117.3(EMD):c.77dup (p.Val27fs)
|
rs2067873691
|
|
|
NM_000117.3(EMD):c.79del (p.Val26_Val27insTer)
|
|
|
|
NM_000117.3(EMD):c.82+1G>T
|
rs1557182214
|
|
|
NM_000117.3(EMD):c.83-2A>C
|
rs727504901
|
|
|
NM_000117.3:c.55_83del
|
|
|
|
NM_000182.5(HADHA):c.1002del (p.Glu335fs)
|
|
|
|
NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro)
|
rs137852772
|
|
|
NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter)
|
|
|
|
NM_000182.5(HADHA):c.1059del (p.Lys353fs)
|
rs1227493628
|
|
|
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.2134_2138dup (p.Gly715fs)
|
rs1669501514
|
|
|
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.845T>A (p.Val282Asp)
|
rs137852773
|
|
|
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.1059del (p.Gly354fs)
|
rs796051974
|
|
|
NM_000183.3(HADHB):c.1137del (p.His379fs)
|
|
|
|
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val)
|
rs764623179
|
|
|
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter)
|
rs146538551
|
|
|
NM_000183.3(HADHB):c.1211dup (p.Gly404_Arg405insTer)
|
rs1553323072
|
|
|
NM_000183.3(HADHB):c.1279G>T (p.Gly427Ter)
|
|
|
|
NM_000183.3(HADHB):c.1331G>A (p.Arg444Lys)
|
rs121913134
|
|
|
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly)
|
rs267606859
|
|
|
NM_000183.3(HADHB):c.1389+5G>A
|
|
|
|
NM_000183.3(HADHB):c.1390-515_1390-499del
|
|
|
|
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)
|
|
|
|
NM_000183.3(HADHB):c.209+1G>C
|
|
|
|
NM_000183.3(HADHB):c.209C>G (p.Ser70Ter)
|
|
|
|
NM_000183.3(HADHB):c.340A>G (p.Asn114Asp)
|
|
|
|
NM_000183.3(HADHB):c.357dup (p.Ala120fs)
|
rs886037844
|
|
|
NM_000183.3(HADHB):c.410dup (p.Cys138fs)
|
|
|
|
NM_000183.3(HADHB):c.417del (p.Ser140fs)
|
|
|
|
NM_000183.3(HADHB):c.442+663A>G
|
|
|
|
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.630+2_630+6del
|
|
|
|
NM_000183.3(HADHB):c.631-1G>A
|
rs1553322031
|
|
|
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.693del (p.Ala232fs)
|
rs2147825515
|
|
|
NM_000183.3(HADHB):c.739C>T (p.Arg247Cys)
|
|
|
|
NM_000183.3(HADHB):c.747_748del (p.His249fs)
|
|
|
|
NM_000183.3(HADHB):c.776_777insT (p.Leu260fs)
|
|
|
|
NM_000183.3(HADHB):c.788A>G (p.Asp263Gly)
|
rs121913131
|
|
|
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_000217.3(KCNA1):c.1102G>C (p.Val368Leu)
|
|
|
|
NM_000217.3(KCNA1):c.1187G>T (p.Gly396Val)
|
rs2137673958
|
|
|
NM_000217.3(KCNA1):c.1207C>T (p.Pro403Ser)
|
|
|
|
NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile)
|
rs104894355
|
|
|
NM_000217.3(KCNA1):c.1214C>T (p.Pro405Leu)
|
rs1555085798
|
|
|
NM_000217.3(KCNA1):c.1223T>C (p.Val408Ala)
|
rs104894352
|
|
|
NM_000217.3(KCNA1):c.1249C>T (p.Arg417Ter)
|
rs104894358
|
|
|
NM_000217.3(KCNA1):c.520G>T (p.Val174Phe)
|
rs104894349
|
|
|
NM_000217.3(KCNA1):c.530T>A (p.Ile177Asn)
|
rs267607195
|
|
|
NM_000217.3(KCNA1):c.551T>G (p.Phe184Cys)
|
rs104894357
|
|
|
NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala)
|
rs104894354
|
|
|
NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg)
|
rs28933383
|
|
|
NM_000217.3(KCNA1):c.715C>A (p.Arg239Ser)
|
rs104894348
|
|
|
NM_000217.3(KCNA1):c.745T>A (p.Phe249Ile)
|
rs104894356
|
|
|
NM_000217.3(KCNA1):c.847G>A (p.Glu283Lys)
|
rs2137673633
|
|
|
NM_000217.3(KCNA1):c.850C>T (p.Gln284Ter)
|
rs2137673640
|
|
|
NM_000217.3(KCNA1):c.975G>C (p.Glu325Asp)
|
rs104894353
|
|
|
NM_000231.3(SGCG):c.105T>A (p.Cys35Ter)
|
rs760108586
|
|
|
NM_000231.3(SGCG):c.128T>A (p.Leu43Ter)
|
rs2137501447
|
|
|
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)
|
rs781760379
|
|
|
NM_000231.3(SGCG):c.167G>A (p.Trp56Ter)
|
rs1351510337
|
|
|
NM_000231.3(SGCG):c.174_175insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTGGATTCTT (p.Lys59delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerGlnAspGlyLeuAspLeuLeuThrSerTer)
|
rs2137501542
|
|
|
NM_000231.3(SGCG):c.177dup (p.Val60fs)
|
rs2137501584
|
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
|
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)
|
|
|
|
NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)
|
|
|
|
NM_000231.3(SGCG):c.241_297+1169del
|
|
|
|
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
|
|
|
|
NM_000231.3(SGCG):c.298-1G>A
|
rs79500874
|
|
|
NM_000231.3(SGCG):c.298-2A>G
|
|
|
|
NM_000231.3(SGCG):c.333del (p.Thr112fs)
|
rs1593197637
|
|
|
NM_000231.3(SGCG):c.361del (p.Glu121fs)
|
rs1879928532
|
|
|
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer)
|
rs886042540
|
|
|
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter)
|
rs1881219252
|
|
|
NM_000231.3(SGCG):c.505+2T>C
|
rs1593216248
|
|
|
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)
|
rs1881865054
|
|
|
NM_000231.3(SGCG):c.524_527del (p.Phe175fs)
|
rs2137644682
|
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
|
NM_000231.3(SGCG):c.526G>T (p.Glu176Ter)
|
rs768134426
|
|
|
NM_000231.3(SGCG):c.528_534del (p.His177fs)
|
|
|
|
NM_000231.3(SGCG):c.533C>G (p.Ser178Ter)
|
rs1011397929
|
|
|
NM_000231.3(SGCG):c.533del (p.His177_Ser178insTer)
|
rs1180551378
|
|
|
NM_000231.3(SGCG):c.549dup (p.Val184fs)
|
rs2137644772
|
|
|
NM_000231.3(SGCG):c.579-5729_702+1720del
|
|
|
|
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter)
|
rs547818652
|
|
|
NM_000231.3(SGCG):c.582dup (p.Glu195fs)
|
|
|
|
NM_000231.3(SGCG):c.599del (p.Ser200fs)
|
rs886043860
|
|
|
NM_000231.3(SGCG):c.648_649insC (p.Lys217fs)
|
rs2137528211
|
|
|
NM_000231.3(SGCG):c.649A>T (p.Lys217Ter)
|
rs1325816562
|
|
|
NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter)
|
rs376410504
|
|
|
NM_000231.3(SGCG):c.673_674insTATTCTTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Asp225delinsValPhePhePhePhePhePhePhePhePheXaaXaaXaaXaaAspGlyValSerProCysTer)
|
rs2137528297
|
|
|
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg)
|
rs875989949
|
|
|
NM_000231.3(SGCG):c.699_702del (p.Met234fs)
|
rs2137528349
|
|
|
NM_000231.3(SGCG):c.702+1G>A
|
rs1555248000
|
|
|
NM_000231.3(SGCG):c.727_728del (p.Cys243fs)
|
rs758078849
|
|
|
NM_000231.3(SGCG):c.730_732delinsAGCAT (p.Leu244fs)
|
rs1883154291
|
|
|
NM_000231.3(SGCG):c.735del (p.Lys246fs)
|
|
|
|
NM_000231.3(SGCG):c.768del (p.Ser257fs)
|
rs1199421806
|
|
|
NM_000231.3(SGCG):c.775_776del (p.Gln259fs)
|
rs2137534154
|
|
|
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)
|
rs780348174
|
|
|
NM_000231.3(SGCG):c.801_802del (p.Pro268fs)
|
rs2137534216
|
|
|
NM_000231.3(SGCG):c.824_827del (p.Ser275fs)
|
rs1361450354
|
|
|
NM_000231.3(SGCG):c.82del (p.Ile28fs)
|
|
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
|
NM_000231.3(SGCG):c.87T>A (p.Tyr29Ter)
|
rs1196026821
|
|
|
NM_000231.3(SGCG):c.89del (p.Gly30fs)
|
|
|
|
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)
|
|
|
|
NM_000232.5(SGCB):c.-10_13del (p.Met1fs)
|
rs2109380910
|
|
|
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
|
|
|
|
NM_000232.5(SGCB):c.-10_19dup (p.Ala7fs)
|
|
|
|
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)
|
rs1553940963
|
|
|
NM_000232.5(SGCB):c.-12_23dup (p.Ala9fs)
|
|
|
|
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)
|
rs1207685911
|
|
|
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
|
|
|
|
NM_000232.5(SGCB):c.-18_8dup (p.Ala6fs)
|
rs2109380938
|
|
|
NM_000232.5(SGCB):c.-8_8dup (p.Ala4fs)
|
|
|
|
NM_000232.5(SGCB):c.102del (p.Glu35fs)
|
rs2109376007
|
|
|
NM_000232.5(SGCB):c.132C>G (p.Tyr44Ter)
|
rs1737305761
|
|
|
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
|
|
|
|
NM_000232.5(SGCB):c.243+2T>C
|
rs1553940661
|
|
|
NM_000232.5(SGCB):c.243+3_243+6del
|
rs1553940660
|
|
|
NM_000232.5(SGCB):c.253_254del (p.Val85fs)
|
rs1553940274
|
|
|
NM_000232.5(SGCB):c.255dup (p.Ile86fs)
|
rs2109372084
|
|
|
NM_000232.5(SGCB):c.261G>A (p.Trp87Ter)
|
rs2109372060
|
|
|
NM_000232.5(SGCB):c.272G>C (p.Arg91Pro)
|
rs104893869
|
|
|
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu)
|
rs104893869
|
|
|
NM_000232.5(SGCB):c.28G>T (p.Glu10Ter)
|
rs1448040082
|
|
|
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
|
rs104893871
|
|
|
NM_000232.5(SGCB):c.29_33del (p.Glu10fs)
|
rs1057517064
|
|
|
NM_000232.5(SGCB):c.2T>C (p.Met1Thr)
|
rs1737457235
|
|
|
NM_000232.5(SGCB):c.30del (p.Glu10fs)
|
rs2109380824
|
|
|
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)
|
rs104893870
|
|
|
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)
|
rs750773622
|
|
|
NM_000232.5(SGCB):c.32dup (p.Gln12fs)
|
rs796065319
|
|
|
NM_000232.5(SGCB):c.34-150_243+150del
|
|
|
|
NM_000232.5(SGCB):c.34-1G>A
|
rs1484409119
|
|
|
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer)
|
rs1578126090
|
|
|
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
|
|
|
|
NM_000232.5(SGCB):c.373dup (p.Ser125fs)
|
rs2109371877
|
|
|
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer)
|
rs751427729
|
|
|
NM_000232.5(SGCB):c.37del (p.Ser13fs)
|
|
|
|
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)
|
rs1013015106
|
|
|
NM_000232.5(SGCB):c.3G>T (p.Met1Ile)
|
rs2109380946
|
|
|
NM_000232.5(SGCB):c.433del (p.Val145fs)
|
|
|
|
NM_000232.5(SGCB):c.460_482del (p.Ser154fs)
|
|
|
|
NM_000232.5(SGCB):c.466_467del (p.Glu156fs)
|
rs1578125670
|
|
|
NM_000232.5(SGCB):c.494del (p.Asp165fs)
|
|
|
|
NM_000232.5(SGCB):c.518dup (p.Arg174fs)
|
|
|
|
NM_000232.5(SGCB):c.539dup (p.Ser181fs)
|
rs1737176330
|
|
|
NM_000232.5(SGCB):c.543_547del (p.Ser181fs)
|
|
|
|
NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)
|
|
|
|
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)
|
rs1057517051
|
|
|
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)
|
rs104893868
|
|
|
NM_000232.5(SGCB):c.558_568del (p.His187fs)
|
|
|
|
NM_000232.5(SGCB):c.567dup (p.His190fs)
|
rs1263020044
|
|
|
NM_000232.5(SGCB):c.572del (p.Leu191fs)
|
rs886042546
|
|
|
NM_000232.5(SGCB):c.579dup (p.Gly194fs)
|
rs2109370922
|
|
|
NM_000232.5(SGCB):c.583dup (p.Val195fs)
|
|
|
|
NM_000232.5(SGCB):c.595_598del (p.Asn199fs)
|
rs762114570
|
|
|
NM_000232.5(SGCB):c.621+1G>A
|
rs1264362642
|
|
|
NM_000232.5(SGCB):c.622-1G>C
|
rs2109370093
|
|
|
NM_000232.5(SGCB):c.622-1G>T
|
|
|
|
NM_000232.5(SGCB):c.650del (p.Asn217fs)
|
rs1553940079
|
|
|
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)
|
rs775458201
|
|
|
NM_000232.5(SGCB):c.661_662insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGTTG (p.Val220_Asp221insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaLysLysLysLysLysLysLysLysVal)
|
|
|
|
NM_000232.5(SGCB):c.683G>A (p.Gly228Glu)
|
rs1737147925
|
|
|
NM_000232.5(SGCB):c.708_709insTTTTCATTATGGGC (p.Lys237fs)
|
|
|
|
NM_000232.5(SGCB):c.735_736del (p.Asn246fs)
|
rs2109369924
|
|
|
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)
|
rs771814273
|
|
|
NM_000232.5(SGCB):c.82_86del (p.Glu28fs)
|
rs1553940687
|
|
|
NM_000232.5(SGCB):c.85dup (p.Arg29fs)
|
rs2109376054
|
|
|
NM_000232.5(SGCB):c.87_89del (p.Arg30del)
|
rs780654411
|
|
|
NM_000232.5:c.74_283del
|
|
|
|
NM_000252.2(MTM1):c.-76_-11del
|
|
|
|
NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs)
|
rs797045711
|
|
|
NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs)
|
rs2148497926
|
|
|
NM_000252.3(MTM1):c.1015dup (p.Ser339fs)
|
rs797045709
|
|
|
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter)
|
rs398123264
|
|
|
NM_000252.3(MTM1):c.1053+1G>A
|
rs587783751
|
|
|
NM_000252.3(MTM1):c.1053+1G>C
|
rs587783751
|
|
|
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs)
|
rs587783752
|
|
|
NM_000252.3(MTM1):c.1089dup (p.Val364fs)
|
rs587783752
|
|
|
NM_000252.3(MTM1):c.1116del (p.Val373fs)
|
|
|
|
NM_000252.3(MTM1):c.1120C>G (p.His374Asp)
|
rs587783754
|
|
|
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)
|
rs587783755
|
|
|
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter)
|
rs587783756
|
|
|
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter)
|
rs587783757
|
|
|
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val)
|
rs587783758
|
|
|
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr)
|
rs587783759
|
|
|
NM_000252.3(MTM1):c.116del (p.Pro39fs)
|
rs2038979352
|
|
|
NM_000252.3(MTM1):c.1178dup (p.Leu393fs)
|
rs1557414513
|
|
|
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys)
|
rs132630303
|
|
|
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter)
|
rs587783761
|
|
|
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala)
|
rs587783762
|
|
|
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
|
|
|
|
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)
|
rs781933660
|
|
|
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter)
|
rs587783763
|
|
|
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)
|
rs587783766
|
|
|
NM_000252.3(MTM1):c.1260+15C>G
|
|
|
|
NM_000252.3(MTM1):c.1260+1G>A
|
rs587783768
|
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
|
NM_000252.3(MTM1):c.1261-1G>C
|
rs587783770
|
|
|
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)
|
rs587783772
|
|
|
NM_000252.3(MTM1):c.1283_1286del (p.Asn428fs)
|
rs587783773
|
|
|
NM_000252.3(MTM1):c.1283del (p.Asn428fs)
|
rs797045712
|
|
|
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del)
|
rs797045713
|
|
|
NM_000252.3(MTM1):c.1307del (p.Pro436fs)
|
rs587783775
|
|
|
NM_000252.3(MTM1):c.130dup (p.Ile44fs)
|
rs797045714
|
|
|
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter)
|
rs587783778
|
|
|
NM_000252.3(MTM1):c.1349_1353+4del
|
rs797045715
|
|
|
NM_000252.3(MTM1):c.1353+1G>A
|
rs587783779
|
|
|
NM_000252.3(MTM1):c.1353+2T>C
|
rs587783780
|
|
|
NM_000252.3(MTM1):c.1353G>A (p.Gln451=)
|
rs587783781
|
|
|
NM_000252.3(MTM1):c.1354-1G>A
|
rs587783782
|
|
|
NM_000252.3(MTM1):c.136+1G>T
|
rs1603124201
|
|
|
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser)
|
rs587783783
|
|
|
NM_000252.3(MTM1):c.1371del (p.Glu457fs)
|
|
|
|
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile)
|
rs587783785
|
|
|
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter)
|
rs587783786
|
|
|
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter)
|
rs782234944
|
|
|
NM_000252.3(MTM1):c.139_141del (p.Lys47del)
|
rs587783788
|
|
|
NM_000252.3(MTM1):c.1406A>G (p.His469Arg)
|
rs587783789
|
|
|
NM_000252.3(MTM1):c.141_144del
|
rs587783791
|
|
|
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)
|
rs587783792
|
|
|
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val)
|
rs587783793
|
|
|
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser)
|
rs587783794
|
|
|
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.145G>A (p.Val49Ile)
|
rs587783796
|
|
|
NM_000252.3(MTM1):c.145G>T (p.Val49Phe)
|
rs587783796
|
|
|
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs)
|
rs587783797
|
|
|
NM_000252.3(MTM1):c.1467+1G>A
|
rs587783798
|
|
|
NM_000252.3(MTM1):c.1467+1G>T
|
rs587783798
|
|
|
NM_000252.3(MTM1):c.1467+2T>A
|
rs587783799
|
|
|
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg)
|
rs587783801
|
|
|
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys)
|
rs1557414802
|
|
|
NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs)
|
|
|
|
NM_000252.3(MTM1):c.1509del (p.Asn503fs)
|
rs587783802
|
|
|
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter)
|
rs2148434034
|
|
|
NM_000252.3(MTM1):c.153_156del (p.Ile52fs)
|
rs587783803
|
|
|
NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter)
|
rs868972342
|
|
|
NM_000252.3(MTM1):c.154del (p.Ile52fs)
|
rs587783804
|
|
|
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter)
|
rs587783805
|
|
|
NM_000252.3(MTM1):c.1644+1G>A
|
rs398123272
|
|
|
NM_000252.3(MTM1):c.1792del (p.His598fs)
|
rs34119065
|
|
|
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly)
|
rs132630304
|
|
|
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)
|
rs132630304
|
|
|
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe)
|
rs587783809
|
|
|
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter)
|
rs1057516031
|
|
|
NM_000252.3(MTM1):c.231+1G>A
|
rs587783810
|
|
|
NM_000252.3(MTM1):c.231+2T>G
|
rs587783811
|
|
|
NM_000252.3(MTM1):c.232-1G>A
|
rs587783812
|
|
|
NM_000252.3(MTM1):c.232-1G>C
|
|
|
|
NM_000252.3(MTM1):c.232-2A>C
|
rs587783813
|
|
|
NM_000252.3(MTM1):c.232-3C>A
|
rs587783814
|
|
|
NM_000252.3(MTM1):c.252del (p.Asp84fs)
|
rs587783815
|
|
|
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro)
|
rs587783816
|
|
|
NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)
|
|
|
|
NM_000252.3(MTM1):c.2T>C (p.Met1Thr)
|
|
|
|
NM_000252.3(MTM1):c.2T>G (p.Met1Arg)
|
rs587783817
|
|
|
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly)
|
rs587783818
|
|
|
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.340A>T (p.Lys114Ter)
|
rs587783819
|
|
|
NM_000252.3(MTM1):c.342+1G>A
|
rs1557413092
|
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
|
NM_000252.3(MTM1):c.343-2A>G
|
rs587783821
|
|
|
NM_000252.3(MTM1):c.397_398del (p.Met133fs)
|
rs587783822
|
|
|
NM_000252.3(MTM1):c.3G>A (p.Met1Ile)
|
rs587783823
|
|
|
NM_000252.3(MTM1):c.402del (p.Phe134fs)
|
rs587783824
|
|
|
NM_000252.3(MTM1):c.419dup (p.Tyr140Ter)
|
rs797045718
|
|
|
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter)
|
rs587783825
|
|
|
NM_000252.3(MTM1):c.431del (p.Leu144fs)
|
rs587783826
|
|
|
NM_000252.3(MTM1):c.465del (p.Asn155fs)
|
rs1557413783
|
|
|
NM_000252.3(MTM1):c.469G>A (p.Glu157Lys)
|
rs132630307
|
|
|
NM_000252.3(MTM1):c.469del (p.Glu157fs)
|
rs587783827
|
|
|
NM_000252.3(MTM1):c.473del (p.Lys158fs)
|
|
|
|
NM_000252.3(MTM1):c.490_493del (p.Trp164fs)
|
rs1603184989
|
|
|
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter)
|
rs587783828
|
|
|
NM_000252.3(MTM1):c.516del (p.Glu172fs)
|
rs2039803495
|
|
|
NM_000252.3(MTM1):c.528+1G>A
|
|
|
|
NM_000252.3(MTM1):c.528+1G>T
|
rs587783830
|
|
|
NM_000252.3(MTM1):c.529-2A>G
|
rs587783831
|
|
|
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser)
|
rs587783832
|
|
|
NM_000252.3(MTM1):c.539_545del (p.Asn180fs)
|
rs587783833
|
|
|
NM_000252.3(MTM1):c.548G>A (p.Trp183Ter)
|
rs2148488410
|
|
|
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter)
|
rs587783834
|
|
|
NM_000252.3(MTM1):c.549dup (p.Arg184fs)
|
rs797045719
|
|
|
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly)
|
rs587783835
|
|
|
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile)
|
rs587783836
|
|
|
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)
|
rs132630302
|
|
|
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)
|
rs587783838
|
|
|
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.593A>C (p.Tyr198Ser)
|
rs1569565497
|
|
|
NM_000252.3(MTM1):c.605del (p.Leu202fs)
|
rs672601325
|
|
|
NM_000252.3(MTM1):c.611T>G (p.Val204Gly)
|
rs587783840
|
|
|
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)
|
rs587783841
|
|
|
NM_000252.3(MTM1):c.624del (p.Ser209fs)
|
rs2039846270
|
|
|
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)
|
rs587783842
|
|
|
NM_000252.3(MTM1):c.63+1G>A
|
rs587783843
|
|
|
NM_000252.3(MTM1):c.63+1G>T
|
rs587783843
|
|
|
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe)
|
rs587783845
|
|
|
NM_000252.3(MTM1):c.64-1G>A
|
rs587783846
|
|
|
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.676C>A (p.Pro226Thr)
|
rs587783848
|
|
|
NM_000252.3(MTM1):c.678+1G>A
|
rs587783849
|
|
|
NM_000252.3(MTM1):c.679-1G>A
|
rs672601324
|
|
|
NM_000252.3(MTM1):c.679G>A (p.Val227Met)
|
rs587783850
|
|
|
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro)
|
rs587783851
|
|
|
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)
|
rs398123274
|
|
|
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.779A>C (p.Tyr260Ser)
|
rs587783855
|
|
|
NM_000252.3(MTM1):c.782_783del (p.Leu261fs)
|
|
|
|
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser)
|
rs587783856
|
|
|
NM_000252.3(MTM1):c.804_805del (p.Asn268fs)
|
|
|
|
NM_000252.3(MTM1):c.808_811del (p.Gln270fs)
|
rs797045720
|
|
|
NM_000252.3(MTM1):c.819_820dup (p.Leu274fs)
|
rs2148493304
|
|
|
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter)
|
rs587783857
|
|
|
NM_000252.3(MTM1):c.867+1G>A
|
rs587783858
|
|
|
NM_000252.3(MTM1):c.867+2T>A
|
|
|
|
NM_000252.3(MTM1):c.867_867+1dup
|
rs797045721
|
|
|
NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer)
|
rs587783859
|
|
|
NM_000252.3(MTM1):c.912del (p.Glu305fs)
|
rs587783860
|
|
|
NM_000252.3(MTM1):c.949dup (p.Met317fs)
|
rs797045722
|
|
|
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro)
|
rs587783863
|
|
|
NM_000252.3(MTM1):c.961_962del (p.Leu321fs)
|
rs587783864
|
|
|
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer)
|
rs587783865
|
|
|
NM_000252.3(MTM1):c.969dup (p.Val324fs)
|
rs587783865
|
|
|
NM_000252.3(MTM1):c.96dup (p.Glu33Ter)
|
rs797045724
|
|
|
NM_000257.3(MYH7):c.4522_4524del
|
rs397516220
|
|
|
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)
|
rs397516089
|
|
|
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
|
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)
|
rs121913624
|
|
|
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)
|
rs606231324
|
|
|
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)
|
rs397516127
|
|
|
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)
|
rs121913632
|
|
|
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)
|
rs121913628
|
|
|
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)
|
rs397516171
|
|
|
NM_000257.4(MYH7):c.4442T>C (p.Leu1481Pro)
|
rs587779414
|
|
|
NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro)
|
rs121913647
|
|
|
NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro)
|
rs587779389
|
|
|
NM_000257.4(MYH7):c.4664A>G (p.Glu1555Gly)
|
rs730880805
|
|
|
NM_000257.4(MYH7):c.4699C>T (p.Gln1567Ter)
|
rs1892204411
|
|
|
NM_000257.4(MYH7):c.4795A>C (p.Thr1599Pro)
|
rs587779390
|
|
|
NM_000257.4(MYH7):c.4823G>C (p.Arg1608Pro)
|
rs587779391
|
|
|
NM_000257.4(MYH7):c.4835T>C (p.Leu1612Pro)
|
rs587779392
|
|
|
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)
|
rs121913648
|
|
|
NM_000257.4(MYH7):c.4906G>C (p.Ala1636Pro)
|
rs587779415
|
|
|
NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro)
|
rs587779393
|
|
|
NM_000257.4(MYH7):c.4985G>C (p.Arg1662Pro)
|
rs370328209
|
|
|
NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del)
|
rs587779394
|
|
|
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)
|
rs121913650
|
|
|
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del)
|
rs367543052
|
|
|
NM_000257.4(MYH7):c.5177AGA[5] (p.Lys1729dup)
|
rs367543052
|
|
|
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro)
|
rs121913654
|
|
|
NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del)
|
rs587779396
|
|
|
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)
|
rs397516248
|
|
|
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)
|
rs145734640
|
|
|
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp)
|
rs28933098
|
|
|
NM_000257.4(MYH7):c.5655+5G>A
|
rs1595070689
|
|
|
NM_000257.4(MYH7):c.5655+5G>C
|
rs1595070689
|
|
|
NM_000257.4(MYH7):c.5702A>T (p.His1901Leu)
|
rs121913649
|
|
|
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)
|
rs397516254
|
|
|
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp)
|
rs367543053
|
|
|
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)
|
rs3218713
|
|
|
NM_000334.4(SCN4A):c.1123T>C (p.Cys375Arg)
|
|
|
|
NM_000334.4(SCN4A):c.1144C>A (p.Pro382Thr)
|
|
|
|
NM_000334.4(SCN4A):c.1173del (p.Phe392fs)
|
rs1235665641
|
|
|
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)
|
rs121908552
|
|
|
NM_000334.4(SCN4A):c.2009C>A (p.Ser670Tyr)
|
rs914586984
|
|
|
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)
|
rs80338788
|
|
|
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe)
|
rs80338955
|
|
|
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr)
|
rs80338956
|
|
|
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)
|
rs80338957
|
|
|
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe)
|
rs121908546
|
|
|
NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter)
|
rs912001256
|
|
|
NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln)
|
rs780703403
|
|
|
NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val)
|
rs121908549
|
|
|
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys)
|
rs1181083611
|
|
|
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg)
|
rs1598406692
|
|
|
NM_000334.4(SCN4A):c.3626G>T (p.Cys1209Phe)
|
|
|
|
NM_000334.4(SCN4A):c.3891C>A (p.Asn1297Lys)
|
rs121908560
|
|
|
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)
|
rs80338792
|
|
|
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)
|
rs80338792
|
|
|
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
|
rs121908547
|
|
|
NM_000334.4(SCN4A):c.421A>G (p.Ile141Val)
|
rs121908561
|
|
|
NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg)
|
rs121908550
|
|
|
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu)
|
rs121908553
|
|
|
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)
|
rs121908544
|
|
|
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)
|
rs121908545
|
|
|
NM_000334.4(SCN4A):c.4367G>A (p.Gly1456Glu)
|
rs121908554
|
|
|
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile)
|
rs121908559
|
|
|
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)
|
rs121908548
|
|
|
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)
|
rs80338962
|
|
|
NM_000334.4(SCN4A):c.4779C>A (p.Tyr1593Ter)
|
|
|
|
NM_000334.4(SCN4A):c.685del (p.Thr229fs)
|
rs1909597270
|
|
|
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu)
|
rs80338951
|
|
|
NM_000337.6(SGCD):c.133_172dup (p.Lys58fs)
|
|
|
|
NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)
|
|
|
|
NM_000337.6(SGCD):c.289C>T (p.Arg97Ter)
|
rs758700138
|
|
|
NM_000337.6(SGCD):c.354_358del (p.Thr119fs)
|
rs1760626889
|
|
|
NM_000337.6(SGCD):c.390del (p.Ala131fs)
|
rs397517921
|
|
|
NM_000337.6(SGCD):c.391G>C (p.Ala131Pro)
|
rs267607045
|
|
|
NM_000337.6(SGCD):c.414dup (p.Phe139fs)
|
|
|
|
NM_000337.6(SGCD):c.466G>T (p.Glu156Ter)
|
rs2113389536
|
|
|
NM_000337.6(SGCD):c.481_485dup (p.Arg163fs)
|
|
|
|
NM_000337.6(SGCD):c.540_541del (p.Thr180_Pro181insTer)
|
|
|
|
NM_000337.6(SGCD):c.654_655del (p.Glu218fs)
|
|
|
|
NM_000337.6(SGCD):c.657del (p.Thr220fs)
|
rs1369919728
|
|
|
NM_000337.6(SGCD):c.65dup (p.Tyr23fs)
|
rs886043031
|
|
|
NM_000337.6(SGCD):c.74_77dup (p.Ile27fs)
|
rs1554094947
|
|
|
NM_000337.6(SGCD):c.784G>A (p.Glu262Lys)
|
rs121909297
|
|
|
NM_000337.6(SGCD):c.89G>A (p.Trp30Ter)
|
rs121909296
|
|
|
NM_000337.6(SGCD):c.90G>A (p.Trp30Ter)
|
|
|
|
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)
|
rs778760498
|
|
|
NM_000426.3(LAMA2):c.[2049_2050delAG];[523G>T]
|
|
|
|
NM_000426.3(LAMA2):c.[2461A>C;8282T>C]
|
|
|
|
NM_000426.4(LAMA2):c.1027+1G>C
|
|
|
|
NM_000426.4(LAMA2):c.1027+1G>T
|
rs1064797327
|
|
|
NM_000426.4(LAMA2):c.1032del (p.Ala343_Cys344insTer)
|
|
|
|
NM_000426.4(LAMA2):c.1065dup (p.Asp356Ter)
|
|
|
|
NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter)
|
rs1360796756
|
|
|
NM_000426.4(LAMA2):c.1122del (p.Gly376fs)
|
rs1338860420
|
|
|
NM_000426.4(LAMA2):c.1127del (p.Gly376fs)
|
rs1583149141
|
|
|
NM_000426.4(LAMA2):c.1153_1154del (p.Thr385fs)
|
|
|
|
NM_000426.4(LAMA2):c.1177T>G (p.Cys393Gly)
|
rs2114976490
|
|
|
NM_000426.4(LAMA2):c.1190del (p.Phe397fs)
|
rs1779001902
|
|
|
NM_000426.4(LAMA2):c.1206+1del
|
|
|
|
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
|
|
|
|
NM_000426.4(LAMA2):c.1248C>A (p.Cys416Ter)
|
|
|
|
NM_000426.4(LAMA2):c.1255del (p.Ile419fs)
|
rs1185229314
|
|
|
NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer)
|
rs1779702214
|
|
|
NM_000426.4(LAMA2):c.1282_1283dup (p.Asp429fs)
|
rs2114993311
|
|
|
NM_000426.4(LAMA2):c.1288G>T (p.Glu430Ter)
|
rs1583169151
|
|
|
NM_000426.4(LAMA2):c.1291A>T (p.Lys431Ter)
|
rs1583169165
|
|
|
NM_000426.4(LAMA2):c.12del (p.Ala5fs)
|
rs1554312639
|
|
|
NM_000426.4(LAMA2):c.1301del (p.Arg434fs)
|
rs1554230455
|
|
|
NM_000426.4(LAMA2):c.1306+1G>T
|
rs2114993363
|
|
|
NM_000426.4(LAMA2):c.1306+2T>G
|
rs1326401124
|
|
|
NM_000426.4(LAMA2):c.1307-2A>G
|
|
|
|
NM_000426.4(LAMA2):c.1382_1383del (p.Thr461fs)
|
rs1780690164
|
|
|
NM_000426.4(LAMA2):c.1405_1406insAC (p.Cys469fs)
|
|
|
|
NM_000426.4(LAMA2):c.1419dup (p.Leu474fs)
|
|
|
|
NM_000426.4(LAMA2):c.1467+1G>A
|
rs1554234161
|
|
|
NM_000426.4(LAMA2):c.1467+1G>T
|
rs1554234161
|
|
|
NM_000426.4(LAMA2):c.1467+2T>C
|
rs1554234163
|
|
|
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
|
|
|
|
NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)
|
|
|
|
NM_000426.4(LAMA2):c.1535G>A (p.Trp512Ter)
|
rs1781452558
|
|
|
NM_000426.4(LAMA2):c.1596G>A (p.Trp532Ter)
|
|
|
|
NM_000426.4(LAMA2):c.1610_1611del (p.Ile537fs)
|
rs886043374
|
|
|
NM_000426.4(LAMA2):c.1632T>A (p.Tyr544Ter)
|
|
|
|
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter)
|
rs1303773212
|
|
|
NM_000426.4(LAMA2):c.1677del (p.Asp559fs)
|
|
|
|
NM_000426.4(LAMA2):c.1700_1703dup (p.Ile569fs)
|
|
|
|
NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs)
|
rs1583219849
|
|
|
NM_000426.4(LAMA2):c.1732del (p.Leu578fs)
|
|
|
|
NM_000426.4(LAMA2):c.1740del (p.His580fs)
|
|
|
|
NM_000426.4(LAMA2):c.1749C>G (p.Tyr583Ter)
|
|
|
|
NM_000426.4(LAMA2):c.1762del (p.Ala588fs)
|
rs786205654
|
|
|
NM_000426.4(LAMA2):c.1798G>T (p.Gly600Ter)
|
rs36044314
|
|
|
NM_000426.4(LAMA2):c.1823_1824del (p.Ser607_Tyr608insTer)
|
|
|
|
NM_000426.4(LAMA2):c.1824T>G (p.Tyr608Ter)
|
rs2114276382
|
|
|
NM_000426.4(LAMA2):c.1843G>T (p.Glu615Ter)
|
rs2114276465
|
|
|
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)
|
rs398123368
|
|
|
NM_000426.4(LAMA2):c.1852G>T (p.Glu618Ter)
|
rs1786070922
|
|
|
NM_000426.4(LAMA2):c.1877del (p.Ile626fs)
|
rs2114276683
|
|
|
NM_000426.4(LAMA2):c.1881_1884del (p.Glu628fs)
|
|
|
|
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)
|
rs746844753
|
|
|
NM_000426.4(LAMA2):c.1969G>T (p.Glu657Ter)
|
rs1786303769
|
|
|
NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)
|
|
|
|
NM_000426.4(LAMA2):c.2042T>A (p.Leu681Ter)
|
rs1786309286
|
|
|
NM_000426.4(LAMA2):c.2043delinsCT (p.Leu681fs)
|
rs1786309735
|
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
|
NM_000426.4(LAMA2):c.2068_2071del (p.Tyr690fs)
|
rs1583345113
|
|
|
NM_000426.4(LAMA2):c.2070del (p.Thr689_Tyr690insTer)
|
|
|
|
NM_000426.4(LAMA2):c.2187del (p.Tyr730fs)
|
rs2114320699
|
|
|
NM_000426.4(LAMA2):c.2192del (p.Thr731fs)
|
rs1562389593
|
|
|
NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter)
|
rs192317605
|
|
|
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter)
|
rs775676341
|
|
|
NM_000426.4(LAMA2):c.2252del (p.Gly751fs)
|
|
|
|
NM_000426.4(LAMA2):c.2271T>A (p.Cys757Ter)
|
|
|
|
NM_000426.4(LAMA2):c.2350dup (p.Tyr784fs)
|
rs1554260284
|
|
|
NM_000426.4(LAMA2):c.2370T>A (p.Pro790=)
|
|
|
|
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
|
|
|
|
NM_000426.4(LAMA2):c.2421T>A (p.Cys807Ter)
|
|
|
|
NM_000426.4(LAMA2):c.244C>T (p.Gln82Ter)
|
|
|
|
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro)
|
rs186538779
|
|
|
NM_000426.4(LAMA2):c.2500G>T (p.Gly834Ter)
|
rs2114391000
|
|
|
NM_000426.4(LAMA2):c.2520dup (p.Gly841fs)
|
rs2114391108
|
|
|
NM_000426.4(LAMA2):c.253dup (p.Ile85fs)
|
rs1248727589
|
|
|
NM_000426.4(LAMA2):c.2541T>A (p.Cys847Ter)
|
rs2114420247
|
|
|
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)
|
rs750731624
|
|
|
NM_000426.4(LAMA2):c.2560C>T (p.Gln854Ter)
|
rs1583421520
|
|
|
NM_000426.4(LAMA2):c.2565del (p.Ser856fs)
|
rs2114420319
|
|
|
NM_000426.4(LAMA2):c.2586T>A (p.Cys862Ter)
|
rs1789390592
|
|
|
NM_000426.4(LAMA2):c.258C>A (p.Cys86Ter)
|
|
|
|
NM_000426.4(LAMA2):c.2595C>A (p.Cys865Ter)
|
rs1789391655
|
|
|
NM_000426.4(LAMA2):c.2651del (p.Gly884fs)
|
|
|
|
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter)
|
rs1789395190
|
|
|
NM_000426.4(LAMA2):c.2718del (p.Phe906fs)
|
|
|
|
NM_000426.4(LAMA2):c.2749+1G>A
|
rs759555791
|
|
|
NM_000426.4(LAMA2):c.2749+1G>T
|
|
|
|
NM_000426.4(LAMA2):c.2806C>T (p.Gln936Ter)
|
|
|
|
NM_000426.4(LAMA2):c.2834del (p.Gly945fs)
|
rs2114432671
|
|
|
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter)
|
rs1018100729
|
|
|
NM_000426.4(LAMA2):c.2841_2842del (p.Arg947_Cys948insTer)
|
|
|
|
NM_000426.4(LAMA2):c.2859_2862dup (p.Thr955fs)
|
|
|
|
NM_000426.4(LAMA2):c.2863_2869del (p.Thr955fs)
|
|
|
|
NM_000426.4(LAMA2):c.2907C>A (p.Cys969Ter)
|
|
|
|
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
|
|
|
|
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)
|
rs398123371
|
|
|
NM_000426.4(LAMA2):c.3037+1G>T
|
rs1773291512
|
|
|
NM_000426.4(LAMA2):c.3089_3126dup (p.Lys1043fs)
|
rs2114460969
|
|
|
NM_000426.4(LAMA2):c.3146G>A (p.Trp1049Ter)
|
|
|
|
NM_000426.4(LAMA2):c.3182del (p.Asn1061fs)
|
rs1258407314
|
|
|
NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter)
|
rs1774316033
|
|
|
NM_000426.4(LAMA2):c.3232C>T (p.Gln1078Ter)
|
rs2114493974
|
|
|
NM_000426.4(LAMA2):c.3237C>A (p.Cys1079Ter)
|
rs1554268940
|
|
|
NM_000426.4(LAMA2):c.3258del (p.Gly1087fs)
|
|
|
|
NM_000426.4(LAMA2):c.3275_3276del (p.Glu1092fs)
|
rs1156538773
|
|
|
NM_000426.4(LAMA2):c.327G>A (p.Trp109Ter)
|
rs1788769048
|
|
|
NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter)
|
rs376088608
|
|
|
NM_000426.4(LAMA2):c.3294G>A (p.Trp1098Ter)
|
|
|
|
NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer)
|
rs764839142
|
|
|
NM_000426.4(LAMA2):c.3300C>A (p.Tyr1100Ter)
|
rs1583469993
|
|
|
NM_000426.4(LAMA2):c.3318_3319del (p.Cys1106_Asp1107delinsTer)
|
|
|
|
NM_000426.4(LAMA2):c.3329del (p.Leu1110fs)
|
rs1583470073
|
|
|
NM_000426.4(LAMA2):c.3332del (p.Pro1111fs)
|
rs2114494356
|
|
|
NM_000426.4(LAMA2):c.3338_3345dup (p.Thr1116fs)
|
rs2114494398
|
|
|
NM_000426.4(LAMA2):c.3372dup (p.Cys1125fs)
|
rs1361925574
|
|
|
NM_000426.4(LAMA2):c.3449_3453del (p.Pro1150fs)
|
rs1774464446
|
|
|
NM_000426.4(LAMA2):c.3555G>A (p.Trp1185Ter)
|
|
|
|
NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs)
|
rs1583475938
|
|
|
NM_000426.4(LAMA2):c.3607C>T (p.Gln1203Ter)
|
|
|
|
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs)
|
rs727503992
|
|
|
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs)
|
rs398123372
|
|
|
NM_000426.4(LAMA2):c.3646G>T (p.Glu1216Ter)
|
|
|
|
NM_000426.4(LAMA2):c.3700_3701insTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTTT (p.Tyr1234delinsPhePhePheXaaXaaXaaXaaArgMetValSerIleSerTer)
|
rs2114501598
|
|
|
NM_000426.4(LAMA2):c.3700_3701insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT (p.Tyr1234delinsPhePhePhePhePhePhePhePheTer)
|
|
|
|
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)
|
rs121913569
|
|
|
NM_000426.4(LAMA2):c.3736-1G>C
|
|
|
|
NM_000426.4(LAMA2):c.3747T>G (p.Tyr1249Ter)
|
|
|
|
NM_000426.4(LAMA2):c.3768_3771dup (p.Tyr1258fs)
|
|
|
|
NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs)
|
rs750220830
|
|
|
NM_000426.4(LAMA2):c.3806del (p.Thr1269fs)
|
|
|
|
NM_000426.4(LAMA2):c.3817C>T (p.Gln1273Ter)
|
rs200625655
|
|
|
NM_000426.4(LAMA2):c.3829C>T (p.Arg1277Ter)
|
rs1554269891
|
|
|
NM_000426.4(LAMA2):c.3874del (p.Ala1292fs)
|
rs2114502447
|
|
|
NM_000426.4(LAMA2):c.3886_3889del (p.Ile1296fs)
|
rs1774572282
|
|
|
NM_000426.4(LAMA2):c.391C>T (p.Gln131Ter)
|
rs1562200866
|
|
|
NM_000426.4(LAMA2):c.3924+2T>C
|
rs1554269966
|
|
|
NM_000426.4(LAMA2):c.3928G>T (p.Glu1310Ter)
|
rs755643402
|
|
|
NM_000426.4(LAMA2):c.3932G>A (p.Trp1311Ter)
|
rs2114502893
|
|
|
NM_000426.4(LAMA2):c.3938del (p.Tyr1313fs)
|
rs2114502928
|
|
|
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)
|
rs1180309541
|
|
|
NM_000426.4(LAMA2):c.396+1G>A
|
|
|
|
NM_000426.4(LAMA2):c.397-4_478del
|
rs1554217494
|
|
|
NM_000426.4(LAMA2):c.3979_3985dup (p.Phe1329Ter)
|
rs886042847
|
|
|
NM_000426.4(LAMA2):c.4002T>G (p.Tyr1334Ter)
|
rs1562451730
|
|
|
NM_000426.4(LAMA2):c.4035T>G (p.Tyr1345Ter)
|
|
|
|
NM_000426.4(LAMA2):c.4049del (p.Arg1350fs)
|
|
|
|
NM_000426.4(LAMA2):c.4058+1G>A
|
rs2114503272
|
|
|
NM_000426.4(LAMA2):c.4115del (p.Pro1372fs)
|
|
|
|
NM_000426.4(LAMA2):c.4147_4148insGAAGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAATGTGATTGTC (p.Pro1383delinsArgArgGlyGlyAlaLysMetAlaGluTer)
|
|
|
|
NM_000426.4(LAMA2):c.414T>G (p.Tyr138Ter)
|
rs2114873123
|
|
|
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)
|
rs775112258
|
|
|
NM_000426.4(LAMA2):c.4210C>T (p.Gln1404Ter)
|
rs2114532848
|
|
|
NM_000426.4(LAMA2):c.4240del (p.Leu1414fs)
|
rs2114532949
|
|
|
NM_000426.4(LAMA2):c.4261C>T (p.Gln1421Ter)
|
|
|
|
NM_000426.4(LAMA2):c.428_432del (p.Ala143fs)
|
|
|
|
NM_000426.4(LAMA2):c.4297del (p.Thr1433fs)
|
rs2114533123
|
|
|
NM_000426.4(LAMA2):c.4312-1G>C
|
rs1776314873
|
|
|
NM_000426.4(LAMA2):c.4312-2A>G
|
rs2114568240
|
|
|
NM_000426.4(LAMA2):c.4334_4352dup (p.Cys1451delinsTrpTer)
|
|
|
|
NM_000426.4(LAMA2):c.4345G>T (p.Glu1449Ter)
|
|
|
|
NM_000426.4(LAMA2):c.4366_4370del (p.Tyr1456fs)
|
rs2114568387
|
|
|
NM_000426.4(LAMA2):c.4368T>A (p.Tyr1456Ter)
|
rs758048573
|
|
|
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)
|
rs143680577
|
|
|
NM_000426.4(LAMA2):c.4399C>T (p.Gln1467Ter)
|
|
|
|
NM_000426.4(LAMA2):c.442del (p.Arg148fs)
|
|
|
|
NM_000426.4(LAMA2):c.442dup (p.Arg148fs)
|
rs1775302275
|
|
|
NM_000426.4(LAMA2):c.4446del (p.Ser1483fs)
|
|
|
|
NM_000426.4(LAMA2):c.4498G>T (p.Gly1500Ter)
|
rs776889674
|
|
|
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys)
|
rs770084568
|
|
|
NM_000426.4(LAMA2):c.4523G>C (p.Arg1508Thr)
|
rs770084568
|
|
|
NM_000426.4(LAMA2):c.4524-2A>T
|
rs1554278541
|
|
|
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs)
|
rs1776950897
|
|
|
NM_000426.4(LAMA2):c.4583_4584del (p.Glu1528fs)
|
rs2114593280
|
|
|
NM_000426.4(LAMA2):c.4615del (p.Cys1539fs)
|
rs2114593373
|
|
|
NM_000426.4(LAMA2):c.4634del (p.Phe1545fs)
|
rs2114593440
|
|
|
NM_000426.4(LAMA2):c.4638C>A (p.Cys1546Ter)
|
|
|
|
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs)
|
rs1246940477
|
|
|
NM_000426.4(LAMA2):c.4688G>A (p.Trp1563Ter)
|
rs2114593621
|
|
|
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs)
|
rs774051471
|
|
|
NM_000426.4(LAMA2):c.4706G>A (p.Trp1569Ter)
|
|
|
|
NM_000426.4(LAMA2):c.4714_4715del (p.Val1572fs)
|
rs1186050632
|
|
|
NM_000426.4(LAMA2):c.4729G>T (p.Glu1577Ter)
|
|
|
|
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs)
|
rs1392196900
|
|
|
NM_000426.4(LAMA2):c.4757T>A (p.Leu1586Ter)
|
rs2114619908
|
|
|
NM_000426.4(LAMA2):c.4814_4830del (p.Pro1605fs)
|
rs2114620061
|
|
|
NM_000426.4(LAMA2):c.4860+1G>A
|
|
|
|
NM_000426.4(LAMA2):c.4860+2delinsGGCC
|
rs1562497781
|
|
|
NM_000426.4(LAMA2):c.4861del (p.His1621fs)
|
|
|
|
NM_000426.4(LAMA2):c.4886dup (p.Glu1630fs)
|
|
|
|
NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter)
|
rs748541803
|
|
|
NM_000426.4(LAMA2):c.4959+1del
|
rs1583591577
|
|
|
NM_000426.4(LAMA2):c.4962del (p.Thr1655fs)
|
rs1778789800
|
|
|
NM_000426.4(LAMA2):c.4984G>T (p.Glu1662Ter)
|
|
|
|
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)
|
rs553221833
|
|
|
NM_000426.4(LAMA2):c.4992_4996del (p.Gln1666fs)
|
|
|
|
NM_000426.4(LAMA2):c.4996C>T (p.Gln1666Ter)
|
rs2114654019
|
|
|
NM_000426.4(LAMA2):c.499C>T (p.Gln167Ter)
|
rs2114873389
|
|
|
NM_000426.4(LAMA2):c.5020A>T (p.Arg1674Ter)
|
|
|
|
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter)
|
rs1778794887
|
|
|
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter)
|
rs1008335405
|
|
|
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter)
|
rs201632009
|
|
|
NM_000426.4(LAMA2):c.5071+1G>A
|
rs757661749
|
|
|
NM_000426.4(LAMA2):c.5071+3104del
|
rs1554285766
|
|
|
NM_000426.4(LAMA2):c.5085dup (p.Ala1696fs)
|
rs1351661862
|
|
|
NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)
|
|
|
|
NM_000426.4(LAMA2):c.5135del (p.Arg1712fs)
|
rs2114671870
|
|
|
NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs)
|
rs1554286963
|
|
|
NM_000426.4(LAMA2):c.5195dup (p.Asn1732fs)
|
rs747567057
|
|
|
NM_000426.4(LAMA2):c.5234+1G>C
|
|
|
|
NM_000426.4(LAMA2):c.523G>T (p.Glu175Ter)
|
rs863224891
|
|
|
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer)
|
rs1211739649
|
|
|
NM_000426.4(LAMA2):c.5266A>T (p.Lys1756Ter)
|
rs2114674584
|
|
|
NM_000426.4(LAMA2):c.5284del (p.Arg1762fs)
|
|
|
|
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs)
|
rs1415944134
|
|
|
NM_000426.4(LAMA2):c.5294del (p.Asn1765fs)
|
rs1296345962
|
|
|
NM_000426.4(LAMA2):c.5296G>T (p.Glu1766Ter)
|
rs1231277831
|
|
|
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs)
|
rs768458445
|
|
|
NM_000426.4(LAMA2):c.5356dup (p.Ala1786fs)
|
rs2114674819
|
|
|
NM_000426.4(LAMA2):c.5369_5370del (p.Leu1789_Leu1790insTer)
|
|
|
|
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter)
|
rs746201268
|
|
|
NM_000426.4(LAMA2):c.5429dup (p.Asn1810fs)
|
|
|
|
NM_000426.4(LAMA2):c.54_64del (p.Gly19fs)
|
|
|
|
NM_000426.4(LAMA2):c.5562+5G>A
|
rs771046502
|
|
|
NM_000426.4(LAMA2):c.5582del (p.Thr1861fs)
|
rs1780027332
|
|
|
NM_000426.4(LAMA2):c.561del (p.Pro188fs)
|
|
|
|
NM_000426.4(LAMA2):c.5795_5804del (p.Lys1932fs)
|
rs1780109910
|
|
|
NM_000426.4(LAMA2):c.5830G>T (p.Glu1944Ter)
|
rs1780112044
|
|
|
NM_000426.4(LAMA2):c.5853del (p.Ala1952fs)
|
rs1554290311
|
|
|
NM_000426.4(LAMA2):c.5866-1G>A
|
rs1064797040
|
|
|
NM_000426.4(LAMA2):c.5866-2A>G
|
rs1554295204
|
|
|
NM_000426.4(LAMA2):c.58dup (p.Val20fs)
|
|
|
|
NM_000426.4(LAMA2):c.5910T>A (p.Cys1970Ter)
|
rs1781395670
|
|
|
NM_000426.4(LAMA2):c.5962_5963delinsTG (p.Val1988Ter)
|
rs2114740915
|
|
|
NM_000426.4(LAMA2):c.5968G>T (p.Glu1990Ter)
|
rs1376412082
|
|
|
NM_000426.4(LAMA2):c.6031del (p.Asp2011fs)
|
rs2114761115
|
|
|
NM_000426.4(LAMA2):c.6062dup (p.Leu2023fs)
|
rs1554297242
|
|
|
NM_000426.4(LAMA2):c.6076del (p.Ile2026fs)
|
|
|
|
NM_000426.4(LAMA2):c.6115dup (p.Asp2039fs)
|
rs2114765432
|
|
|
NM_000426.4(LAMA2):c.6127C>T (p.Gln2043Ter)
|
|
|
|
NM_000426.4(LAMA2):c.6129_6139dup (p.Thr2047fs)
|
rs2114765447
|
|
|
NM_000426.4(LAMA2):c.6147del (p.Asp2050fs)
|
|
|
|
NM_000426.4(LAMA2):c.6150_6156del (p.Asp2050fs)
|
rs1782073790
|
|
|
NM_000426.4(LAMA2):c.618_621dup (p.Pro208fs)
|
|
|
|
NM_000426.4(LAMA2):c.6191del (p.Gly2064fs)
|
rs2114765686
|
|
|
NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter)
|
rs1583756552
|
|
|
NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter)
|
rs886061039
|
|
|
NM_000426.4(LAMA2):c.61_62del (p.Gln21fs)
|
rs1554312687
|
|
|
NM_000426.4(LAMA2):c.6233_6236dup (p.Ala2081fs)
|
|
|
|
NM_000426.4(LAMA2):c.6257_6267del (p.Pro2086fs)
|
|
|
|
NM_000426.4(LAMA2):c.6268+1G>T
|
rs1782086875
|
|
|
NM_000426.4(LAMA2):c.6268+2T>C
|
rs1554297727
|
|
|
NM_000426.4(LAMA2):c.6283dup (p.Ala2095fs)
|
rs1782332430
|
|
|
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter)
|
rs1782333085
|
|
|
NM_000426.4(LAMA2):c.638del (p.Glu213fs)
|
|
|
|
NM_000426.4(LAMA2):c.6429+1G>A
|
|
|
|
NM_000426.4(LAMA2):c.6443del (p.Val2148fs)
|
rs770895341
|
|
|
NM_000426.4(LAMA2):c.6444_6445del (p.Ser2149fs)
|
|
|
|
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter)
|
rs922640025
|
|
|
NM_000426.4(LAMA2):c.6484del (p.Ile2162fs)
|
|
|
|
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs)
|
rs886039482
|
|
|
NM_000426.4(LAMA2):c.6500dup (p.Tyr2167Ter)
|
|
|
|
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del)
|
rs1363017615
|
|
|
NM_000426.4(LAMA2):c.652_653del (p.Leu218fs)
|
rs2114958680
|
|
|
NM_000426.4(LAMA2):c.6555T>A (p.Tyr2185Ter)
|
|
|
|
NM_000426.4(LAMA2):c.6573del (p.Phe2191fs)
|
rs2114788848
|
|
|
NM_000426.4(LAMA2):c.6588dup (p.Ile2197fs)
|
|
|
|
NM_000426.4(LAMA2):c.6617del (p.Phe2206fs)
|
rs867012156
|
|
|
NM_000426.4(LAMA2):c.6636_6637del (p.Gly2213fs)
|
|
|
|
NM_000426.4(LAMA2):c.664_665insAC (p.Arg222fs)
|
|
|
|
NM_000426.4(LAMA2):c.666A>C (p.Arg222Ser)
|
rs2114958704
|
|
|
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter)
|
rs1583790201
|
|
|
NM_000426.4(LAMA2):c.6768_6771dup (p.Ser2258fs)
|
|
|
|
NM_000426.4(LAMA2):c.67C>T (p.Gln23Ter)
|
|
|
|
NM_000426.4(LAMA2):c.6801_6802del (p.Tyr2268fs)
|
|
|
|
NM_000426.4(LAMA2):c.6820del (p.Asp2274fs)
|
rs1562581261
|
|
|
NM_000426.4(LAMA2):c.6919_6920del (p.Tyr2307fs)
|
rs757404275
|
|
|
NM_000426.4(LAMA2):c.6924dup (p.Asp2309Ter)
|
|
|
|
NM_000426.4(LAMA2):c.6964del (p.Glu2322fs)
|
rs2114801377
|
|
|
NM_000426.4(LAMA2):c.6993-2A>G
|
rs200669208
|
|
|
NM_000426.4(LAMA2):c.7042dup (p.Tyr2348fs)
|
|
|
|
NM_000426.4(LAMA2):c.7070G>A (p.Trp2357Ter)
|
rs761714859
|
|
|
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)
|
rs121913576
|
|
|
NM_000426.4(LAMA2):c.7147del (p.Arg2383fs)
|
|
|
|
NM_000426.4(LAMA2):c.7156-5_7157delinsT
|
rs1554301854
|
|
|
NM_000426.4(LAMA2):c.7181del (p.Thr2394fs)
|
rs1583815667
|
|
|
NM_000426.4(LAMA2):c.7207_7208dup (p.Asp2403fs)
|
rs1554301883
|
|
|
NM_000426.4(LAMA2):c.720T>G (p.Tyr240Ter)
|
|
|
|
NM_000426.4(LAMA2):c.7265G>A (p.Trp2422Ter)
|
|
|
|
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs)
|
rs398123385
|
|
|
NM_000426.4(LAMA2):c.7280del (p.Leu2427fs)
|
|
|
|
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro)
|
rs1562273395
|
|
|
NM_000426.4(LAMA2):c.7297C>T (p.Gln2433Ter)
|
|
|
|
NM_000426.4(LAMA2):c.7370del (p.Asn2457fs)
|
rs2114823738
|
|
|
NM_000426.4(LAMA2):c.7393_7394del (p.Ala2464_Asp2465insTer)
|
rs2114823800
|
|
|
NM_000426.4(LAMA2):c.7439+1G>A
|
rs886043630
|
|
|
NM_000426.4(LAMA2):c.7452-1G>A
|
rs1554304931
|
|
|
NM_000426.4(LAMA2):c.7473_7475dup (p.Tyr2492Ter)
|
rs1784205288
|
|
|
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)
|
rs1480934961
|
|
|
NM_000426.4(LAMA2):c.7518C>A (p.Tyr2506Ter)
|
rs2114834541
|
|
|
NM_000426.4(LAMA2):c.7536del (p.Asp2513fs)
|
rs398123387
|
|
|
NM_000426.4(LAMA2):c.7568del (p.Leu2523fs)
|
|
|
|
NM_000426.4(LAMA2):c.7572+1G>T
|
|
|
|
NM_000426.4(LAMA2):c.7572+2T>G
|
|
|
|
NM_000426.4(LAMA2):c.7573-1G>A
|
|
|
|
NM_000426.4(LAMA2):c.7623del (p.Val2542fs)
|
rs1784334715
|
|
|
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs)
|
rs1784335277
|
|
|
NM_000426.4(LAMA2):c.7655del (p.Leu2552fs)
|
rs1384474600
|
|
|
NM_000426.4(LAMA2):c.7666del (p.Thr2556fs)
|
rs2114839550
|
|
|
NM_000426.4(LAMA2):c.7710_7711insG (p.Pro2571fs)
|
rs1554305937
|
|
|
NM_000426.4(LAMA2):c.7750-1713_7899-2153del
|
|
|
|
NM_000426.4(LAMA2):c.7753_7756dup (p.Tyr2586fs)
|
|
|
|
NM_000426.4(LAMA2):c.7778del (p.Gly2593fs)
|
rs2114848887
|
|
|
NM_000426.4(LAMA2):c.7788del (p.Val2597fs)
|
|
|
|
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter)
|
rs766920075
|
|
|
NM_000426.4(LAMA2):c.7814del (p.Thr2605fs)
|
rs2114848989
|
|
|
NM_000426.4(LAMA2):c.7827_7848del (p.Val2610fs)
|
rs1784594432
|
|
|
NM_000426.4(LAMA2):c.7870_7871dup (p.Ser2625fs)
|
rs2114849148
|
|
|
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)
|
rs727502851
|
|
|
NM_000426.4(LAMA2):c.7898+1G>A
|
rs1784599832
|
|
|
NM_000426.4(LAMA2):c.7927A>T (p.Arg2643Ter)
|
rs2114859541
|
|
|
NM_000426.4(LAMA2):c.7928_7929del (p.Arg2643fs)
|
|
|
|
NM_000426.4(LAMA2):c.7935C>A (p.Tyr2645Ter)
|
|
|
|
NM_000426.4(LAMA2):c.7945del (p.Asn2648_Leu2649insTer)
|
rs2114859580
|
|
|
NM_000426.4(LAMA2):c.7966G>T (p.Glu2656Ter)
|
rs909847521
|
|
|
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs)
|
rs886039541
|
|
|
NM_000426.4(LAMA2):c.799G>A (p.Asp267Asn)
|
|
|
|
NM_000426.4(LAMA2):c.8020_8023dup (p.Arg2675fs)
|
rs1784889421
|
|
|
NM_000426.4(LAMA2):c.8040del (p.Phe2680fs)
|
|
|
|
NM_000426.4(LAMA2):c.8052dup (p.Trp2685fs)
|
|
|
|
NM_000426.4(LAMA2):c.8073del (p.Val2692fs)
|
|
|
|
NM_000426.4(LAMA2):c.8096del (p.Pro2699fs)
|
rs1784912657
|
|
|
NM_000426.4(LAMA2):c.8111del (p.Asn2704fs)
|
|
|
|
NM_000426.4(LAMA2):c.8115del (p.Asp2706fs)
|
|
|
|
NM_000426.4(LAMA2):c.8127del (p.Cys2710fs)
|
rs1784914735
|
|
|
NM_000426.4(LAMA2):c.8178_8185del (p.Glu2726fs)
|
rs2114860862
|
|
|
NM_000426.4(LAMA2):c.8180_8181del (p.Ile2727fs)
|
rs1205783002
|
|
|
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter)
|
rs1784919273
|
|
|
NM_000426.4(LAMA2):c.819+2T>C
|
rs1554226188
|
|
|
NM_000426.4(LAMA2):c.8244+1G>C
|
|
|
|
NM_000426.4(LAMA2):c.8244+2dup
|
rs1554310330
|
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
|
NM_000426.4(LAMA2):c.8245-2A>G
|
rs914395925
|
|
|
NM_000426.4(LAMA2):c.8256del (p.Ala2753fs)
|
|
|
|
NM_000426.4(LAMA2):c.825del (p.Tyr276fs)
|
rs1562275792
|
|
|
NM_000426.4(LAMA2):c.8265del (p.Glu2756fs)
|
|
|
|
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter)
|
rs1028599119
|
|
|
NM_000426.4(LAMA2):c.8297dup (p.Gly2767fs)
|
rs2114888851
|
|
|
NM_000426.4(LAMA2):c.832del (p.Val278fs)
|
|
|
|
NM_000426.4(LAMA2):c.8357+1G>A
|
rs1785749704
|
|
|
NM_000426.4(LAMA2):c.8363del (p.Thr2788fs)
|
rs2114890695
|
|
|
NM_000426.4(LAMA2):c.8378_8381del (p.Val2793fs)
|
rs2114890769
|
|
|
NM_000426.4(LAMA2):c.8380_8383del (p.Arg2794fs)
|
rs2114890786
|
|
|
NM_000426.4(LAMA2):c.8541del (p.Trp2847fs)
|
rs2114891707
|
|
|
NM_000426.4(LAMA2):c.8547+1G>T
|
rs1554315373
|
|
|
NM_000426.4(LAMA2):c.8581_8584dup (p.Tyr2862fs)
|
rs1583919688
|
|
|
NM_000426.4(LAMA2):c.8586T>G (p.Tyr2862Ter)
|
|
|
|
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs)
|
rs2114900655
|
|
|
NM_000426.4(LAMA2):c.8625del (p.Ala2876fs)
|
|
|
|
NM_000426.4(LAMA2):c.8647G>T (p.Gly2883Ter)
|
rs2114900886
|
|
|
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg)
|
rs886039896
|
|
|
NM_000426.4(LAMA2):c.8669dup (p.Leu2890fs)
|
rs1554316216
|
|
|
NM_000426.4(LAMA2):c.8682C>G (p.Tyr2894Ter)
|
rs2114901162
|
|
|
NM_000426.4(LAMA2):c.8683_8687del (p.Thr2895fs)
|
rs1785972046
|
|
|
NM_000426.4(LAMA2):c.8689C>T (p.Arg2897Ter)
|
rs750328754
|
|
|
NM_000426.4(LAMA2):c.8692del (p.Arg2898fs)
|
rs1785973861
|
|
|
NM_000426.4(LAMA2):c.8703+1G>A
|
|
|
|
NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer)
|
rs2114910650
|
|
|
NM_000426.4(LAMA2):c.8725T>C (p.Cys2909Arg)
|
|
|
|
NM_000426.4(LAMA2):c.872del (p.Gly291fs)
|
rs1222620175
|
|
|
NM_000426.4(LAMA2):c.8769dup (p.Gln2924fs)
|
rs1583929127
|
|
|
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter)
|
rs1034133545
|
|
|
NM_000426.4(LAMA2):c.8798del (p.Thr2933fs)
|
rs2114911219
|
|
|
NM_000426.4(LAMA2):c.8962_8965dup (p.Gly2989fs)
|
rs2114931095
|
|
|
NM_000426.4(LAMA2):c.8986A>T (p.Lys2996Ter)
|
rs2114931240
|
|
|
NM_000426.4(LAMA2):c.8988+1G>T
|
|
|
|
NM_000426.4(LAMA2):c.9031_9034dup (p.Tyr3012fs)
|
rs1786860270
|
|
|
NM_000426.4(LAMA2):c.9066_9102dup (p.His3035delinsTrpThrMetAlaTer)
|
|
|
|
NM_000426.4(LAMA2):c.9075G>A (p.Trp3025Ter)
|
|
|
|
NM_000426.4(LAMA2):c.908dup (p.Asn303fs)
|
rs2114964219
|
|
|
NM_000426.4(LAMA2):c.910-1G>A
|
rs2114967780
|
|
|
NM_000426.4(LAMA2):c.910-1G>T
|
rs2114967780
|
|
|
NM_000426.4(LAMA2):c.9101_9104dup (p.His3035fs)
|
rs398123390
|
|
|
NM_000426.4(LAMA2):c.9116del (p.Leu3039fs)
|
|
|
|
NM_000426.4(LAMA2):c.9139G>T (p.Glu3047Ter)
|
|
|
|
NM_000426.4(LAMA2):c.9139_9145dup (p.Gln3049fs)
|
|
|
|
NM_000426.4(LAMA2):c.9141dup (p.Ala3048fs)
|
|
|
|
NM_000426.4(LAMA2):c.9149_9155del (p.Ser3050fs)
|
rs1323340608
|
|
|
NM_000426.4(LAMA2):c.9158del (p.Pro3053fs)
|
rs2114939704
|
|
|
NM_000426.4(LAMA2):c.9168_9169dup (p.Ser3057fs)
|
rs2114939796
|
|
|
NM_000426.4(LAMA2):c.9188_9189del (p.Pro3063fs)
|
|
|
|
NM_000426.4(LAMA2):c.9191dup (p.Phe3065fs)
|
rs2114939909
|
|
|
NM_000426.4(LAMA2):c.9192_9193del (p.Phe3065fs)
|
rs1786879628
|
|
|
NM_000426.4(LAMA2):c.9195_9198dup (p.Gly3067fs)
|
rs2114939917
|
|
|
NM_000426.4(LAMA2):c.9211+1G>A
|
rs1554320318
|
|
|
NM_000426.4(LAMA2):c.9222del (p.Lys3074fs)
|
rs1787058325
|
|
|
NM_000426.4(LAMA2):c.9223C>T (p.Gln3075Ter)
|
rs771012835
|
|
|
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)
|
rs121913571
|
|
|
NM_000426.4(LAMA2):c.938_939del (p.Thr313fs)
|
rs2114967814
|
|
|
NM_000426.4(LAMA2):c.942T>A (p.Cys314Ter)
|
rs2114967843
|
|
|
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)
|
rs1554227092
|
|
|
NM_000426.4(LAMA2):c.991A>T (p.Arg331Ter)
|
rs1457748796
|
|
|
NM_000426.4:c.(6992+1_6993-1)_(7300+1_7301-1)del
|
|
|
|
NM_000432.4(MYL2):c.431_432del (p.Pro144fs)
|
rs1566147422
|
|
|
NM_000432.4(MYL2):c.431del (p.Pro144fs)
|
rs786205430
|
|
|
NM_000432.4(MYL2):c.432del (p.Asp145fs)
|
rs2071649414
|
|
|
NM_000445.5(PLEC):c.106_119dup (p.Gly44fs)
|
rs2133006435
|
|
|
NM_000540.2(RYR1):c.[10348-6C>G;14524G>A]
|
|
|
|
NM_000540.2(RYR1):c.[14344G>A;14928C>G]
|
|
|
|
NM_000540.2(RYR1):c.[5726_5727delAG;9242T>C]
|
|
|
|
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg)
|
rs118192126
|
|
|
NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)
|
rs193922836
|
|
|
NM_000540.3(RYR1):c.10347+1G>A
|
rs111436401
|
|
|
NM_000540.3(RYR1):c.10453C>T (p.Gln3485Ter)
|
rs199895006
|
|
|
NM_000540.3(RYR1):c.10579C>T (p.Pro3527Ser)
|
rs118192164
|
|
|
NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro)
|
rs118192127
|
|
|
NM_000540.3(RYR1):c.10865del (p.Lys3622fs)
|
|
|
|
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter)
|
rs1447117024
|
|
|
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)
|
rs118192117
|
|
|
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)
|
rs1419938249
|
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
|
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)
|
rs118192116
|
|
|
NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del)
|
rs118192165
|
|
|
NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu)
|
rs118192118
|
|
|
NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp)
|
rs118192129
|
|
|
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)
|
rs193922856
|
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
|
NM_000540.3(RYR1):c.13220del (p.Gly4407fs)
|
rs1568583728
|
|
|
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro)
|
rs118192131
|
|
|
NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn)
|
rs118192132
|
|
|
NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser)
|
rs1568593922
|
|
|
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys)
|
rs118192133
|
|
|
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)
|
rs118192166
|
|
|
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)
|
rs118192134
|
|
|
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser)
|
rs118192136
|
|
|
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)
|
rs118192135
|
|
|
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)
|
rs118192138
|
|
|
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)
|
rs118192139
|
|
|
NM_000540.3(RYR1):c.14365-2A>T
|
rs193922870
|
|
|
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)
|
rs118192179
|
|
|
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)
|
rs118192167
|
|
|
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)
|
rs886039586
|
|
|
NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe)
|
rs118192142
|
|
|
NM_000540.3(RYR1):c.14447A>G (p.Asp4816Gly)
|
rs1974129338
|
|
|
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)
|
rs118192180
|
|
|
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)
|
rs118192143
|
|
|
NM_000540.3(RYR1):c.14572A>G (p.Asn4858Asp)
|
rs118192144
|
|
|
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
|
rs118192181
|
|
|
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)
|
rs63749869
|
|
|
NM_000540.3(RYR1):c.14587_14607del (p.Phe4863_Asp4869del)
|
rs118192169
|
|
|
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys)
|
rs118192146
|
|
|
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr)
|
rs118192147
|
|
|
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)
|
rs193922887
|
|
|
NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg)
|
rs118192149
|
|
|
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
|
rs118192150
|
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
|
NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro)
|
rs118192151
|
|
|
NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val)
|
rs118192148
|
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
|
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu)
|
rs118192183
|
|
|
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val)
|
rs118192153
|
|
|
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly)
|
rs118192184
|
|
|
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr)
|
rs118192154
|
|
|
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn)
|
rs118192155
|
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
|
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser)
|
rs118192156
|
|
|
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1])
|
rs193922893
|
|
|
NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)
|
|
|
|
NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met)
|
rs118192159
|
|
|
NM_000540.3(RYR1):c.1534G>A (p.Glu512Lys)
|
rs118192119
|
|
|
NM_000540.3(RYR1):c.1576+1G>A
|
rs2145393963
|
|
|
NM_000540.3(RYR1):c.1675dup (p.Ile559fs)
|
rs1475149579
|
|
|
NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)
|
rs193922771
|
|
|
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)
|
rs193922772
|
|
|
NM_000540.3(RYR1):c.1878_1882del (p.Pro626_Gly627insTer)
|
rs797045931
|
|
|
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)
|
rs878854365
|
|
|
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)
|
rs1456276440
|
|
|
NM_000540.3(RYR1):c.2097_2123del (p.Glu699_Gly707del)
|
rs876661306
|
|
|
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr)
|
rs118192113
|
|
|
NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs)
|
rs1460246826
|
|
|
NM_000540.3(RYR1):c.2505del (p.Pro836fs)
|
rs797045932
|
|
|
NM_000540.3(RYR1):c.3381+1G>A
|
rs797045934
|
|
|
NM_000540.3(RYR1):c.3485C>T (p.Thr1162Ile)
|
rs1280346095
|
|
|
NM_000540.3(RYR1):c.3899del (p.Phe1300fs)
|
|
|
|
NM_000540.3(RYR1):c.4496_4497del (p.Phe1499fs)
|
rs1568476203
|
|
|
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)
|
rs1332371891
|
|
|
NM_000540.3(RYR1):c.5449del (p.Glu1817fs)
|
rs2145545066
|
|
|
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys)
|
rs1366464512
|
|
|
NM_000540.3(RYR1):c.644G>A (p.Gly215Glu)
|
rs118192115
|
|
|
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)
|
rs118192163
|
|
|
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)
|
rs118192176
|
|
|
NM_000540.3(RYR1):c.6517C>T (p.Gln2173Ter)
|
rs1486865637
|
|
|
NM_000540.3(RYR1):c.6797-6_6798del
|
|
|
|
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)
|
rs886041380
|
|
|
NM_000540.3(RYR1):c.6811_6836del (p.Thr2271fs)
|
|
|
|
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His)
|
rs118192121
|
|
|
NM_000540.3(RYR1):c.6891+1G>T
|
|
|
|
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)
|
rs121918596
|
|
|
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)
|
rs1057518940
|
|
|
NM_000540.3(RYR1):c.7215del (p.Phe2406fs)
|
rs1568501473
|
|
|
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)
|
rs28933396
|
|
|
NM_000540.3(RYR1):c.7330C>T (p.Gln2444Ter)
|
rs1970064722
|
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
|
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)
|
rs118192123
|
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
|
NM_000540.3(RYR1):c.7614+1G>A
|
rs2145606794
|
|
|
NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp)
|
rs193922820
|
|
|
NM_000540.3(RYR1):c.7706_7707del (p.Phe2569fs)
|
|
|
|
NM_000540.3(RYR1):c.8141_8142del (p.Tyr2714fs)
|
|
|
|
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter)
|
rs1568510406
|
|
|
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)
|
rs758580075
|
|
|
NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter)
|
rs146514343
|
|
|
NM_000540.3(RYR1):c.8724C>A (p.Tyr2908Ter)
|
rs797045935
|
|
|
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)
|
rs118192125
|
|
|
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)
|
rs1568440962
|
|
|
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu)
|
rs193922746
|
|
|
NM_000540.3(RYR1):c.[11941C>T;8342_8343del]
|
|
|
|
NM_000751.3(CHRND):c.880C>T (p.Leu294Phe)
|
rs1574633904
|
|
|
NM_000859.3(HMGCR):c.1327C>T (p.Arg443Trp)
|
|
|
|
NM_000859.3(HMGCR):c.1328G>A (p.Arg443Gln)
|
|
|
|
NM_000859.3(HMGCR):c.1519TCT[1] (p.Ser508del)
|
|
|
|
NM_000859.3(HMGCR):c.1867G>A (p.Asp623Asn)
|
|
|
|
NM_000859.3(HMGCR):c.2375A>G (p.Tyr792Cys)
|
|
|
|
NM_000859.3(HMGCR):c.2465G>A (p.Gly822Asp)
|
|
|
|
NM_000859.3(HMGCR):c.365+4A>G
|
|
|
|
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn)
|
rs782596945
|
|
|
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu)
|
rs398123028
|
|
|
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092
|
|
|
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)
|
rs121909089
|
|
|
NM_001005361.3(DNM2):c.1135T>G (p.Phe379Val)
|
rs397514735
|
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
|
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)
|
rs587783595
|
|
|
NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys)
|
rs951875086
|
|
|
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr)
|
rs773598203
|
|
|
NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp)
|
rs1555715869
|
|
|
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp)
|
rs121909095
|
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
|
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro)
|
rs587783597
|
|
|
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg)
|
rs587783598
|
|
|
NM_001005361.3(DNM2):c.1893+1G>A
|
rs2073061878
|
|
|
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)
|
rs2073098775
|
|
|
NM_001008215.3(COA5):c.157G>C (p.Ala53Pro)
|
rs387907099
|
|
|
NM_001017980.4(VMA21):c.*13_*104del
|
rs1556035617
|
|
|
NM_001017980.4(VMA21):c.*6A>G
|
rs878854355
|
|
|
NM_001017980.4(VMA21):c.163+4A>G
|
rs797044909
|
|
|
NM_001017980.4(VMA21):c.164-6T>G
|
rs878854356
|
|
|
NM_001017980.4(VMA21):c.164-7T>G
|
rs878854353
|
|
|
NM_001017980.4(VMA21):c.272G>C (p.Gly91Ala)
|
rs878854354
|
|
|
NM_001017980.4(VMA21):c.54-16_54-8del
|
rs878854357
|
|
|
NM_001017980.4(VMA21):c.54-27A>C
|
rs878854352
|
|
|
NM_001017980.4(VMA21):c.54-27A>T
|
rs878854352
|
|
|
NM_001033.5(RRM1):c.1141C>T (p.Arg381Cys)
|
|
|
|
NM_001033.5(RRM1):c.1142G>A (p.Arg381His)
|
|
|
|
NM_001036.6(RYR3):c.11164+1G>A
|
rs549279246
|
|
|
NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly)
|
rs587777215
|
|
|
NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp)
|
rs587777213
|
|
|
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu)
|
rs267607180
|
|
|
NM_001040436.3(YARS2):c.359dup (p.Asp121fs)
|
rs797045077
|
|
|
NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp)
|
rs11539445
|
|
|
NM_001040436.3(YARS2):c.98C>A (p.Ser33Ter)
|
|
|
|
NM_001042631.3(SDHAF1):c.164G>C (p.Arg55Pro)
|
rs137853193
|
|
|
NM_001042631.3(SDHAF1):c.169G>C (p.Gly57Arg)
|
rs137853192
|
|
|
NM_001042631.3(SDHAF1):c.170G>A (p.Gly57Glu)
|
rs1976655209
|
|
|
NM_001042631.3(SDHAF1):c.22C>T (p.Gln8Ter)
|
rs1085307492
|
|
|
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
|
|
|
|
NM_001077365.2(POMT1):c.1038del (p.Phe347fs)
|
|
|
|
NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)
|
|
|
|
NM_001077365.2(POMT1):c.1091del (p.Leu364fs)
|
rs1947522752
|
|
|
NM_001077365.2(POMT1):c.1093_1094insGGAGCACGGTGTGGAACGTGGG (p.Val365fs)
|
rs2131707009
|
|
|
NM_001077365.2(POMT1):c.1136_1137dup (p.Gln380fs)
|
|
|
|
NM_001077365.2(POMT1):c.1175+3del
|
rs2131708682
|
|
|
NM_001077365.2(POMT1):c.1175+4_1175+7del
|
rs1588409344
|
|
|
NM_001077365.2(POMT1):c.1182dup (p.Val395fs)
|
|
|
|
NM_001077365.2(POMT1):c.1194_1196del (p.Leu399del)
|
rs587777818
|
|
|
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
|
|
|
|
NM_001077365.2(POMT1):c.1204dup (p.His402fs)
|
rs2131749139
|
|
|
NM_001077365.2(POMT1):c.1211dup (p.Glu405fs)
|
|
|
|
NM_001077365.2(POMT1):c.1235dup (p.Tyr412Ter)
|
|
|
|
NM_001077365.2(POMT1):c.1272+1G>A
|
rs2131751359
|
|
|
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
|
|
|
|
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)
|
rs1554780670
|
|
|
NM_001077365.2(POMT1):c.1364del (p.Lys455fs)
|
rs1472946513
|
|
|
NM_001077365.2(POMT1):c.1390dup (p.Trp464fs)
|
|
|
|
NM_001077365.2(POMT1):c.1417G>C (p.Gly473Arg)
|
rs376882399
|
|
|
NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter)
|
rs1191391104
|
|
|
NM_001077365.2(POMT1):c.1458G>A (p.Trp486Ter)
|
|
|
|
NM_001077365.2(POMT1):c.145del (p.Gln49fs)
|
|
|
|
NM_001077365.2(POMT1):c.1477_1486del (p.Tyr493fs)
|
|
|
|
NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter)
|
rs727502854
|
|
|
NM_001077365.2(POMT1):c.1524dup (p.Pro509fs)
|
|
|
|
NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT (p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer)
|
rs2131588122
|
|
|
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
|
|
|
|
NM_001077365.2(POMT1):c.1657del (p.Leu553fs)
|
rs794727190
|
|
|
NM_001077365.2(POMT1):c.1667del (p.Asn556fs)
|
|
|
|
NM_001077365.2(POMT1):c.1671del (p.Ile557fs)
|
rs1949626483
|
|
|
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys)
|
rs119462984
|
|
|
NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter)
|
rs1945766589
|
|
|
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)
|
rs119462986
|
|
|
NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)
|
|
|
|
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)
|
rs750195040
|
|
|
NM_001077365.2(POMT1):c.1806dup (p.Val603fs)
|
|
|
|
NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs)
|
rs1315540509
|
|
|
NM_001077365.2(POMT1):c.1847_1865dup (p.Gly624fs)
|
|
|
|
NM_001077365.2(POMT1):c.1871_1872del (p.Gly624fs)
|
|
|
|
NM_001077365.2(POMT1):c.1917_1918del (p.Phe640fs)
|
|
|
|
NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe)
|
rs777437871
|
|
|
NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)
|
|
|
|
NM_001077365.2(POMT1):c.1977del (p.Gln660fs)
|
|
|
|
NM_001077365.2(POMT1):c.2014_2015del (p.Gln672fs)
|
|
|
|
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs)
|
rs1950265792
|
|
|
NM_001077365.2(POMT1):c.2044dup (p.Ala682fs)
|
rs587777817
|
|
|
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)
|
rs138902646
|
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
|
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs)
|
rs587777819
|
|
|
NM_001077365.2(POMT1):c.2113_2119del (p.Ser705fs)
|
|
|
|
NM_001077365.2(POMT1):c.2141G>A (p.Trp714Ter)
|
|
|
|
NM_001077365.2(POMT1):c.2142del (p.Arg713_Trp714insTer)
|
|
|
|
NM_001077365.2(POMT1):c.2144_2147dup (p.Asp716fs)
|
rs750453909
|
|
|
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg)
|
rs28941782
|
|
|
NM_001077365.2(POMT1):c.245del (p.Phe82fs)
|
|
|
|
NM_001077365.2(POMT1):c.260dup (p.Leu87fs)
|
|
|
|
NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)
|
rs1945827957
|
|
|
NM_001077365.2(POMT1):c.270_280delAATTGGAGCAG (p.Gly92fs)
|
rs1222795311
|
|
|
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
|
|
|
|
NM_001077365.2(POMT1):c.385del (p.Ser129fs)
|
|
|
|
NM_001077365.2(POMT1):c.418_420del (p.Met140del)
|
rs587777820
|
|
|
NM_001077365.2(POMT1):c.427+1G>A
|
rs760071332
|
|
|
NM_001077365.2(POMT1):c.427+1_427+2insA
|
rs900762841
|
|
|
NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)
|
|
|
|
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp)
|
rs397514501
|
|
|
NM_001077365.2(POMT1):c.432del (p.Asn144fs)
|
|
|
|
NM_001077365.2(POMT1):c.443C>A (p.Thr148Asn)
|
rs1564341846
|
|
|
NM_001077365.2(POMT1):c.485del (p.Phe162fs)
|
rs1250351189
|
|
|
NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)
|
|
|
|
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)
|
rs772370177
|
|
|
NM_001077365.2(POMT1):c.559del (p.Trp187fs)
|
|
|
|
NM_001077365.2(POMT1):c.58dup (p.Val20fs)
|
rs2131554631
|
|
|
NM_001077365.2(POMT1):c.605+1G>C
|
rs766648827
|
|
|
NM_001077365.2(POMT1):c.606del (p.Ile203fs)
|
rs1588375386
|
|
|
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter)
|
rs747129906
|
|
|
NM_001077365.2(POMT1):c.699+24C>A
|
|
|
|
NM_001077365.2(POMT1):c.700-2A>G
|
|
|
|
NM_001077365.2(POMT1):c.720del (p.Leu240fs)
|
|
|
|
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)
|
rs398124247
|
|
|
NM_001077365.2(POMT1):c.72del (p.Met25fs)
|
rs2131554917
|
|
|
NM_001077365.2(POMT1):c.789_790del (p.Leu263fs)
|
|
|
|
NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)
|
|
|
|
NM_001077365.2(POMT1):c.859_871del (p.Gly287fs)
|
rs2131672013
|
|
|
NM_001077365.2(POMT1):c.91del (p.Leu31fs)
|
|
|
|
NM_001077365.2(POMT1):c.93del (p.Trp32fs)
|
|
|
|
NM_001077365.2(POMT1):c.972_973insCT (p.Thr325fs)
|
|
|
|
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)
|
rs1588391612
|
|
|
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)
|
rs765230689
|
|
|
NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs)
|
rs1554754678
|
|
|
NM_001079802.2(FKTN):c.*5374_*5846del
|
|
|
|
NM_001079802.2(FKTN):c.1022del (p.Pro341fs)
|
rs2133163213
|
|
|
NM_001079802.2(FKTN):c.107dup (p.Asn36fs)
|
|
|
|
NM_001079802.2(FKTN):c.1099del (p.Val367fs)
|
rs1554761310
|
|
|
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter)
|
rs773884973
|
|
|
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)
|
rs750176716
|
|
|
NM_001079802.2(FKTN):c.1117G>T (p.Glu373Ter)
|
|
|
|
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)
|
rs1588222602
|
|
|
NM_001079802.2(FKTN):c.1167_1168dup (p.Phe390fs)
|
rs1588222870
|
|
|
NM_001079802.2(FKTN):c.1167del (p.Lys389fs)
|
rs398123555
|
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
|
NM_001079802.2(FKTN):c.1172+1G>A
|
rs1554761462
|
|
|
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
|
rs1588315166
|
|
|
NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs)
|
rs1554766898
|
|
|
NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs)
|
rs886042778
|
|
|
NM_001079802.2(FKTN):c.1363del (p.Asp455fs)
|
rs587777814
|
|
|
NM_001079802.2(FKTN):c.164G>A (p.Trp55Ter)
|
|
|
|
NM_001079802.2(FKTN):c.165G>A (p.Trp55Ter)
|
|
|
|
NM_001079802.2(FKTN):c.180dup (p.Phe61fs)
|
rs2132704748
|
|
|
NM_001079802.2(FKTN):c.187_188del (p.Met63fs)
|
rs587777813
|
|
|
NM_001079802.2(FKTN):c.256_257del (p.Asn86fs)
|
|
|
|
NM_001079802.2(FKTN):c.329_330del (p.Phe110fs)
|
rs767865405
|
|
|
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)
|
rs767865405
|
|
|
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)
|
rs119463995
|
|
|
NM_001079802.2(FKTN):c.360G>A (p.Trp120Ter)
|
rs1564284467
|
|
|
NM_001079802.2(FKTN):c.367G>T (p.Glu123Ter)
|
rs1376019203
|
|
|
NM_001079802.2(FKTN):c.395del (p.Asn132fs)
|
rs2132791309
|
|
|
NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs)
|
rs1564290459
|
|
|
NM_001079802.2(FKTN):c.406C>T (p.Gln136Ter)
|
rs2132792099
|
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
|
|
NM_001079802.2(FKTN):c.420_432dup (p.Pro145Ter)
|
rs2132792659
|
|
|
NM_001079802.2(FKTN):c.429del (p.Asp144fs)
|
rs1057516258
|
|
|
NM_001079802.2(FKTN):c.432del (p.Arg146fs)
|
rs1588110929
|
|
|
NM_001079802.2(FKTN):c.454dup (p.Ser152fs)
|
rs587777748
|
|
|
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)
|
rs760731888
|
|
|
NM_001079802.2(FKTN):c.473dup (p.Leu160fs)
|
|
|
|
NM_001079802.2(FKTN):c.479del (p.Leu160fs)
|
|
|
|
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu)
|
rs119464997
|
|
|
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)
|
rs119463996
|
|
|
NM_001079802.2(FKTN):c.528dup (p.His177fs)
|
rs1588112379
|
|
|
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer)
|
rs2132800044
|
|
|
NM_001079802.2(FKTN):c.585dup (p.Asp196Ter)
|
rs2132800552
|
|
|
NM_001079802.2(FKTN):c.626_627dup (p.Tyr210fs)
|
|
|
|
NM_001079802.2(FKTN):c.630T>A (p.Tyr210Ter)
|
|
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
|
NM_001079802.2(FKTN):c.648-1243G>T
|
rs1554754182
|
|
|
NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter)
|
rs754081311
|
|
|
NM_001079802.2(FKTN):c.745G>T (p.Glu249Ter)
|
|
|
|
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)
|
rs1564301594
|
|
|
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)
|
rs377417974
|
|
|
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter)
|
rs369797361
|
|
|
NM_001079802.2(FKTN):c.803_804del (p.Val268fs)
|
|
|
|
NM_001079802.2(FKTN):c.82_83insGT (p.Tyr28fs)
|
|
|
|
NM_001079802.2(FKTN):c.844C>T (p.Gln282Ter)
|
|
|
|
NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter)
|
rs1438288380
|
|
|
NM_001079802.2(FKTN):c.910+1G>C
|
|
|
|
NM_001079802.2(FKTN):c.914G>A (p.Trp305Ter)
|
rs2133160637
|
|
|
NM_001079802.2(FKTN):c.93T>A (p.Tyr31Ter)
|
rs2132018294
|
|
|
NM_001079802.2(FKTN):c.942T>G (p.Tyr314Ter)
|
rs970907026
|
|
|
NM_001079802.2(FKTN):c.979_985dup (p.Ser329fs)
|
|
|
|
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs)
|
rs768077989
|
|
|
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu)
|
rs1590054876
|
|
|
NM_001081560.3(DMPK):c.*224CTG[51_?]
|
|
|
|
NM_001081563.2(DMPK):c.*224_*283CTG[28]CCG[2]CTG[2]CCG[1]CTG[88]
|
|
|
|
NM_001081563.2(DMPK):c.*224_*283CTG[30]CCG[2]CTG[2]CCG[1]CTG[105]
|
|
|
|
NM_001098272.3(HMGCS1):c.1289G>A (p.Arg430Lys)
|
|
|
|
NM_001098272.3(HMGCS1):c.1339T>C (p.Ser447Pro)
|
|
|
|
NM_001098272.3(HMGCS1):c.209T>C (p.Met70Thr)
|
|
|
|
NM_001098272.3(HMGCS1):c.344_345del (p.Ser115fs)
|
|
|
|
NM_001098272.3(HMGCS1):c.803G>C (p.Cys268Ser)
|
|
|
|
NM_001098272.3(HMGCS1):c.86A>T (p.Gln29Leu)
|
|
|
|
NM_001098272.3(HMGCS1):c.890G>T (p.Gly297Val)
|
|
|
|
NM_001100.3(ACTA1):c.[222G>T;223C>T]
|
|
|
|
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)
|
rs121909531
|
|
|
NM_001100.4(ACTA1):c.1006del (p.Glu336fs)
|
|
|
|
NM_001100.4(ACTA1):c.1007A>C (p.Glu336Ala)
|
rs121909528
|
|
|
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.1074G>T (p.Trp358Cys)
|
rs587777354
|
|
|
NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu)
|
rs121909524
|
|
|
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.113G>C (p.Gly38Ala)
|
|
|
|
NM_001100.4(ACTA1):c.121C>T (p.Arg41Ter)
|
|
|
|
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.203C>A (p.Thr68Asn)
|
|
|
|
NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg)
|
rs1571893885
|
|
|
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.359A>T (p.Lys120Met)
|
rs2102736219
|
|
|
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.400A>G (p.Met134Val)
|
rs1659974377
|
|
|
NM_001100.4(ACTA1):c.400del (p.Met134fs)
|
rs2102736194
|
|
|
NM_001100.4(ACTA1):c.402G>T (p.Met134Ile)
|
rs1553255486
|
|
|
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.440C>T (p.Ser147Phe)
|
|
|
|
NM_001100.4(ACTA1):c.449C>G (p.Thr150Ser)
|
rs1553255479
|
|
|
NM_001100.4(ACTA1):c.460G>C (p.Val154Leu)
|
rs768144106
|
|
|
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.466G>C (p.Asp156His)
|
|
|
|
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser)
|
rs1064794652
|
|
|
NM_001100.4(ACTA1):c.489C>A (p.His163Gln)
|
rs1571893383
|
|
|
NM_001100.4(ACTA1):c.493G>A (p.Val165Met)
|
rs121909522
|
|
|
NM_001100.4(ACTA1):c.493G>C (p.Val165Leu)
|
rs121909522
|
|
|
NM_001100.4(ACTA1):c.493G>T (p.Val165Leu)
|
rs121909522
|
|
|
NM_001100.4(ACTA1):c.49G>A (p.Gly17Ser)
|
rs121909521
|
|
|
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg)
|
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.515C>A (p.Ala172Glu)
|
rs587780272
|
|
|
NM_001100.4(ACTA1):c.541G>C (p.Asp181His)
|
|
|
|
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.593G>A (p.Arg198His)
|
|
|
|
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.668T>C (p.Leu223Pro)
|
rs121909530
|
|
|
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.686T>C (p.Met229Thr)
|
|
|
|
NM_001100.4(ACTA1):c.704C>A (p.Ser235Tyr)
|
rs2102735630
|
|
|
NM_001100.4(ACTA1):c.712del (p.Leu238fs)
|
rs1211561143
|
|
|
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu)
|
rs748592740
|
|
|
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.773G>A (p.Arg258His)
|
rs1659953887
|
|
|
NM_001100.4(ACTA1):c.794A>G (p.Gln265Arg)
|
|
|
|
NM_001100.4(ACTA1):c.79G>A (p.Asp27Asn)
|
|
|
|
NM_001100.4(ACTA1):c.7G>T (p.Asp3Tyr)
|
rs121909527
|
|
|
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.808G>T (p.Gly270Cys)
|
rs121909525
|
|
|
NM_001100.4(ACTA1):c.809-1G>T
|
|
|
|
NM_001100.4(ACTA1):c.809-2A>T
|
rs1301902450
|
|
|
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp)
|
rs1553255362
|
|
|
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.854T>G (p.Met285Arg)
|
|
|
|
NM_001100.4(ACTA1):c.863A>G (p.Asp288Gly)
|
|
|
|
NM_001100.4(ACTA1):c.868G>A (p.Asp290Asn)
|
|
|
|
NM_001100.4(ACTA1):c.868G>C (p.Asp290His)
|
rs1553255354
|
|
|
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)
|
rs121909529
|
|
|
NM_001100.4(ACTA1):c.889G>A (p.Ala297Thr)
|
|
|
|
NM_001100.4(ACTA1):c.920T>G (p.Met307Arg)
|
|
|
|
NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn)
|
rs398122936
|
|
|
NM_001101362.3(KBTBD13):c.1170G>C (p.Lys390Asn)
|
rs1364598710
|
|
|
NM_001101362.3(KBTBD13):c.1222C>T (p.Arg408Cys)
|
rs387907090
|
|
|
NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met)
|
rs1303411209
|
|
|
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser)
|
rs200549195
|
|
|
NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del
|
|
|
|
NM_001101426.4(CRPPA):c.(534+1_535-1)_(933+1_934-1)del
|
|
|
|
NM_001101426.4(CRPPA):c.1092C>A (p.Cys364Ter)
|
|
|
|
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)
|
rs587777798
|
|
|
NM_001101426.4(CRPPA):c.1120-1G>T
|
rs397515396
|
|
|
NM_001101426.4(CRPPA):c.1137dup (p.Lys380Ter)
|
|
|
|
NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter)
|
rs886042554
|
|
|
NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter)
|
rs1453431411
|
|
|
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)
|
rs1202301143
|
|
|
NM_001101426.4(CRPPA):c.161G>C (p.Gly54Ala)
|
rs587777797
|
|
|
NM_001101426.4(CRPPA):c.165del (p.Cys56fs)
|
rs1554371369
|
|
|
NM_001101426.4(CRPPA):c.165dup (p.Cys56fs)
|
rs1554371369
|
|
|
NM_001101426.4(CRPPA):c.17_24dup (p.Ala9fs)
|
|
|
|
NM_001101426.4(CRPPA):c.184del (p.Val62fs)
|
rs1048457038
|
|
|
NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter)
|
rs397514548
|
|
|
NM_001101426.4(CRPPA):c.258-2A>G
|
|
|
|
NM_001101426.4(CRPPA):c.337C>T (p.Gln113Ter)
|
|
|
|
NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro)
|
rs387907162
|
|
|
NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn)
|
rs397514547
|
|
|
NM_001101426.4(CRPPA):c.52dup (p.Leu18fs)
|
rs2128321527
|
|
|
NM_001101426.4(CRPPA):c.534+1del
|
|
|
|
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs)
|
rs2128321525
|
|
|
NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg)
|
rs397515408
|
|
|
NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp)
|
rs387907160
|
|
|
NM_001101426.4(CRPPA):c.6_13dup (p.Pro5fs)
|
|
|
|
NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs)
|
rs781097746
|
|
|
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile)
|
rs397515409
|
|
|
NM_001101426.4(CRPPA):c.722del (p.Leu241fs)
|
rs1554320168
|
|
|
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter)
|
rs1466219701
|
|
|
NM_001101426.4(CRPPA):c.789+2T>G
|
rs397515397
|
|
|
NM_001101426.4(CRPPA):c.790-1G>C
|
rs2128422954
|
|
|
NM_001101426.4(CRPPA):c.79_80del (p.Thr27fs)
|
|
|
|
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter)
|
rs368593151
|
|
|
NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter)
|
rs387907161
|
|
|
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs)
|
rs1554305719
|
|
|
NM_001101426.4(CRPPA):c.896del (p.Gly299fs)
|
|
|
|
NM_001103.4(ACTN2):c.2180T>G (p.Leu727Arg)
|
rs1572148902
|
|
|
NM_001103.4(ACTN2):c.2194_2226del (p.Ala732_Ile742del)
|
rs1572148914
|
|
|
NM_001128227.3(GNE):c.22C>T (p.Gln8Ter)
|
|
|
|
NM_001128227.3(GNE):c.51+10408_52-10008del
|
|
|
|
NM_001128227.3(GNE):c.55_62del (p.Glu18_Leu19insTer)
|
rs2133126724
|
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
|
NM_001128227.3(GNE):c.7del (p.Thr3fs)
|
rs1563966097
|
|
|
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs)
|
rs1554664095
|
|
|
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter)
|
rs1554664090
|
|
|
NM_001130987.2(DYSF):c.1000del (p.Arg334fs)
|
rs1573671276
|
|
|
NM_001130987.2(DYSF):c.1002+4A>G
|
rs905322985
|
|
|
NM_001130987.2(DYSF):c.1003-1G>A
|
|
|
|
NM_001130987.2(DYSF):c.1055G>A (p.Trp352Ter)
|
|
|
|
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)
|
rs398123764
|
|
|
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)
|
rs766891289
|
|
|
NM_001130987.2(DYSF):c.1149+3G>C
|
rs1573704236
|
|
|
NM_001130987.2(DYSF):c.1258del (p.Ala420fs)
|
rs779969348
|
|
|
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)
|
rs778673716
|
|
|
NM_001130987.2(DYSF):c.1261G>C (p.Glu421Gln)
|
|
|
|
NM_001130987.2(DYSF):c.1263_1276+1dup
|
rs863225019
|
|
|
NM_001130987.2(DYSF):c.1277-2A>C
|
rs1553531682
|
|
|
NM_001130987.2(DYSF):c.128dup (p.Asn44fs)
|
|
|
|
NM_001130987.2(DYSF):c.1350del (p.Phe451fs)
|
rs766936914
|
|
|
NM_001130987.2(DYSF):c.1381-2A>G
|
rs786200897
|
|
|
NM_001130987.2(DYSF):c.1449+1G>A
|
rs1553535902
|
|
|
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)
|
rs202044973
|
|
|
NM_001130987.2(DYSF):c.147+1G>A
|
rs2082833010
|
|
|
NM_001130987.2(DYSF):c.1471dup (p.Met491fs)
|
rs1236367931
|
|
|
NM_001130987.2(DYSF):c.148-2A>G
|
|
|
|
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)
|
rs398123767
|
|
|
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)
|
rs139258703
|
|
|
NM_001130987.2(DYSF):c.1560del (p.Gly521fs)
|
rs1456182703
|
|
|
NM_001130987.2(DYSF):c.1562del (p.Gly521fs)
|
rs1559109621
|
|
|
NM_001130987.2(DYSF):c.1576+1del
|
rs1553537332
|
|
|
NM_001130987.2(DYSF):c.1577-2A>G
|
rs1553542142
|
|
|
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)
|
rs886042641
|
|
|
NM_001130987.2(DYSF):c.167dup (p.Ile58fs)
|
rs863225020
|
|
|
NM_001130987.2(DYSF):c.1692+1G>C
|
|
|
|
NM_001130987.2(DYSF):c.1709_1722del (p.Tyr570fs)
|
|
|
|
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter)
|
rs1553543506
|
|
|
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter)
|
rs121908953
|
|
|
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)
|
rs886043900
|
|
|
NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr)
|
rs121908960
|
|
|
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp)
|
rs121908957
|
|
|
NM_001130987.2(DYSF):c.2217-1G>T
|
rs886044379
|
|
|
NM_001130987.2(DYSF):c.2258_2259del (p.His753fs)
|
|
|
|
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter)
|
rs398123773
|
|
|
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)
|
rs121908956
|
|
|
NM_001130987.2(DYSF):c.2472C>A (p.Tyr824Ter)
|
|
|
|
NM_001130987.2(DYSF):c.2473C>T (p.Gln825Ter)
|
rs1574016452
|
|
|
NM_001130987.2(DYSF):c.2550_2553del (p.Thr851fs)
|
rs755849745
|
|
|
NM_001130987.2(DYSF):c.2605C>T (p.Gln869Ter)
|
rs780129376
|
|
|
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)
|
rs794727636
|
|
|
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)
|
rs727503910
|
|
|
NM_001130987.2(DYSF):c.2864+1G>C
|
|
|
|
NM_001130987.2(DYSF):c.2864+5G>A
|
rs886044131
|
|
|
NM_001130987.2(DYSF):c.2891del (p.His964fs)
|
|
|
|
NM_001130987.2(DYSF):c.2912dup (p.Phe972fs)
|
rs2092323164
|
|
|
NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs)
|
rs398123777
|
|
|
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=)
|
rs886042637
|
|
|
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)
|
rs750028300
|
|
|
NM_001130987.2(DYSF):c.3085+2T>C
|
rs886042951
|
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
|
NM_001130987.2(DYSF):c.3113dup (p.Glu1039fs)
|
rs753711667
|
|
|
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)
|
rs369607332
|
|
|
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)
|
rs1553556116
|
|
|
NM_001130987.2(DYSF):c.3274_3275del (p.Leu1092fs)
|
rs1574097294
|
|
|
NM_001130987.2(DYSF):c.3298G>T (p.Glu1100Ter)
|
|
|
|
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)
|
rs746315830
|
|
|
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter)
|
rs1558513494
|
|
|
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs)
|
rs398123780
|
|
|
NM_001130987.2(DYSF):c.3406G>A (p.Gly1136Ser)
|
rs202000264
|
|
|
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
|
rs886042379
|
|
|
NM_001130987.2(DYSF):c.3443_3453dup (p.Ser1152_Phe1153insProProTer)
|
|
|
|
NM_001130987.2(DYSF):c.3497-33A>G
|
rs786205083
|
|
|
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)
|
rs398123781
|
|
|
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs)
|
rs886042827
|
|
|
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)
|
rs766341386
|
|
|
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)
|
rs766341386
|
|
|
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter)
|
rs1380642629
|
|
|
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)
|
rs143393575
|
|
|
NM_001130987.2(DYSF):c.3672C>G (p.Tyr1224Ter)
|
|
|
|
NM_001130987.2(DYSF):c.3702del (p.Val1235fs)
|
|
|
|
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs)
|
rs779407815
|
|
|
NM_001130987.2(DYSF):c.4021C>T (p.Gln1341Ter)
|
rs147950418
|
|
|
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter)
|
rs778092738
|
|
|
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs)
|
rs1574340607
|
|
|
NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter)
|
rs866823474
|
|
|
NM_001130987.2(DYSF):c.4221+1G>C
|
rs1474151297
|
|
|
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter)
|
rs971134497
|
|
|
NM_001130987.2(DYSF):c.4254del (p.Ile1419fs)
|
rs398123786
|
|
|
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)
|
rs398123786
|
|
|
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)
|
rs886043145
|
|
|
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
|
rs576130413
|
|
|
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)
|
rs1574354515
|
|
|
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)
|
|
|
|
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
|
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter)
|
rs886042635
|
|
|
NM_001130987.2(DYSF):c.4756-1G>A
|
rs2152940909
|
|
|
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs)
|
rs1057516051
|
|
|
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs)
|
rs786200896
|
|
|
NM_001130987.2(DYSF):c.5003+1249G>T
|
rs886042110
|
|
|
NM_001130987.2(DYSF):c.5096_5115delinsA (p.Gly1699fs)
|
|
|
|
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)
|
rs1057519132
|
|
|
NM_001130987.2(DYSF):c.5156_5174+4dup
|
rs786205082
|
|
|
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)
|
rs758992291
|
|
|
NM_001130987.2(DYSF):c.5174+5G>A
|
rs745891180
|
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
|
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter)
|
rs762398889
|
|
|
NM_001130987.2(DYSF):c.5317+1G>A
|
rs773386253
|
|
|
NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly)
|
rs121908961
|
|
|
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter)
|
rs727503912
|
|
|
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs)
|
rs2095035479
|
|
|
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs)
|
rs769873428
|
|
|
NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs)
|
rs1558783870
|
|
|
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs)
|
rs1553415211
|
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
|
NM_001130987.2(DYSF):c.5547-2A>G
|
rs1238293747
|
|
|
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)
|
rs886042584
|
|
|
NM_001130987.2(DYSF):c.5578A>T (p.Arg1860Ter)
|
rs2152955939
|
|
|
NM_001130987.2(DYSF):c.5621del (p.Met1874fs)
|
rs2152956005
|
|
|
NM_001130987.2(DYSF):c.5642+1G>A
|
rs727503915
|
|
|
NM_001130987.2(DYSF):c.5642+3A>G
|
|
|
|
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp)
|
rs1131692158
|
|
|
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter)
|
rs886043966
|
|
|
NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs)
|
|
|
|
NM_001130987.2(DYSF):c.5711del (p.Gly1904fs)
|
rs786205081
|
|
|
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs)
|
rs1573100371
|
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
|
|
NM_001130987.2(DYSF):c.5785-824C>T
|
rs1285082850
|
|
|
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs)
|
rs398123796
|
|
|
NM_001130987.2(DYSF):c.5849G>A (p.Trp1950Ter)
|
rs2152961374
|
|
|
NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter)
|
rs1573138336
|
|
|
NM_001130987.2(DYSF):c.5943C>A (p.Cys1981Ter)
|
|
|
|
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)
|
rs398123797
|
|
|
NM_001130987.2(DYSF):c.5977G>T (p.Glu1993Ter)
|
|
|
|
NM_001130987.2(DYSF):c.5981G>A (p.Trp1994Ter)
|
|
|
|
NM_001130987.2(DYSF):c.5990C>T (p.Ser1997Phe)
|
|
|
|
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)
|
rs1064794020
|
|
|
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)
|
rs1057521141
|
|
|
NM_001130987.2(DYSF):c.6166del (p.Asp2056fs)
|
rs1397263011
|
|
|
NM_001130987.2(DYSF):c.6198G>A (p.Trp2066Ter)
|
|
|
|
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)
|
rs1553521017
|
|
|
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter)
|
rs1553422723
|
|
|
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)
|
rs373585652
|
|
|
NM_001130987.2(DYSF):c.730del (p.Leu244fs)
|
rs1553521119
|
|
|
NM_001130987.2(DYSF):c.759+1G>C
|
rs398123800
|
|
|
NM_001130987.2(DYSF):c.769C>T (p.Gln257Ter)
|
|
|
|
NM_001130987.2(DYSF):c.859del (p.His287fs)
|
|
|
|
NM_001130987.2(DYSF):c.888+1G>A
|
rs886044377
|
|
|
NM_001130987.2(DYSF):c.892_893del (p.Leu298fs)
|
rs1553522104
|
|
|
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs)
|
rs1337417322
|
|
|
NM_001130987.2(DYSF):c.907_910del (p.Phe303fs)
|
|
|
|
NM_001130987.2(DYSF):c.922del (p.Glu308fs)
|
rs1553522133
|
|
|
NM_001130987.2(DYSF):c.923del (p.Glu308fs)
|
rs2086635842
|
|
|
NM_001130987.2(DYSF):c.951+1del
|
rs786200898
|
|
|
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)
|
rs1553522751
|
|
|
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)
|
rs121908963
|
|
|
NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter)
|
rs1176071790
|
|
|
NM_001135254.2(PAX7):c.433C>T (p.Arg145Ter)
|
rs752326328
|
|
|
NM_001135254.2(PAX7):c.86-1G>A
|
rs1570098248
|
|
|
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter)
|
rs786205225
|
|
|
NM_001151.4(SLC25A4):c.293T>C (p.Leu98Pro)
|
rs104893876
|
|
|
NM_001151.4(SLC25A4):c.311A>G (p.Asp104Gly)
|
rs28999114
|
|
|
NM_001151.4(SLC25A4):c.340G>C (p.Ala114Pro)
|
rs104893873
|
|
|
NM_001151.4(SLC25A4):c.523del (p.Gln175fs)
|
rs863224209
|
|
|
NM_001151.4(SLC25A4):c.865G>A (p.Val289Met)
|
rs104893874
|
|
|
NM_001159699.2(FHL1):c.104dup (p.Tyr35Ter)
|
|
|
|
NM_001159699.2(FHL1):c.108del (p.Gln37fs)
|
rs1060502840
|
|
|
NM_001159699.2(FHL1):c.156T>A (p.Cys52Ter)
|
|
|
|
NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter)
|
rs2073860048
|
|
|
NM_001159699.2(FHL1):c.243C>A (p.Cys81Ter)
|
rs777580253
|
|
|
NM_001159699.2(FHL1):c.263_276del (p.Leu88fs)
|
|
|
|
NM_001159699.2(FHL1):c.288del (p.Phe96fs)
|
rs2148373432
|
|
|
NM_001159699.2(FHL1):c.339dup (p.Ser114fs)
|
|
|
|
NM_001159699.2(FHL1):c.349T>C (p.Cys117Arg)
|
rs2073864792
|
|
|
NM_001159699.2(FHL1):c.358T>C (p.Cys120Arg)
|
rs122459147
|
|
|
NM_001159699.2(FHL1):c.360dup (p.Phe121fs)
|
rs1556638935
|
|
|
NM_001159699.2(FHL1):c.379+1G>A
|
rs2073866799
|
|
|
NM_001159699.2(FHL1):c.393_394dup (p.Glu132fs)
|
|
|
|
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)
|
rs1569530437
|
|
|
NM_001159699.2(FHL1):c.413G>A (p.Trp138Ter)
|
rs122458140
|
|
|
NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser)
|
rs122458140
|
|
|
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys)
|
rs1556639109
|
|
|
NM_001159699.2(FHL1):c.414del (p.Trp138fs)
|
rs2148375686
|
|
|
NM_001159699.2(FHL1):c.415C>T (p.His139Tyr)
|
rs122458142
|
|
|
NM_001159699.2(FHL1):c.416A>G (p.His139Arg)
|
rs267606812
|
|
|
NM_001159699.2(FHL1):c.416A>T (p.His139Leu)
|
rs267606812
|
|
|
NM_001159699.2(FHL1):c.417C>A (p.His139Gln)
|
rs267606813
|
|
|
NM_001159699.2(FHL1):c.417C>G (p.His139Gln)
|
rs267606813
|
|
|
NM_001159699.2(FHL1):c.419_420del (p.Lys140fs)
|
rs2073885767
|
|
|
NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle)
|
rs1603271580
|
|
|
NM_001159699.2(FHL1):c.441del (p.Cys148fs)
|
rs2148375860
|
|
|
NM_001159699.2(FHL1):c.443G>T (p.Cys148Phe)
|
rs122458143
|
|
|
NM_001159699.2(FHL1):c.466_470del (p.Ser156fs)
|
rs1556639151
|
|
|
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)
|
rs1603271659
|
|
|
NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr)
|
rs122459146
|
|
|
NM_001159699.2(FHL1):c.499_507del (p.Val167_Cys169del)
|
|
|
|
NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser)
|
rs122458144
|
|
|
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)
|
rs122458144
|
|
|
NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr)
|
rs122458145
|
|
|
NM_001159699.2(FHL1):c.507C>G (p.Cys169Trp)
|
|
|
|
NM_001159699.2(FHL1):c.518del (p.Lys173fs)
|
|
|
|
NM_001159699.2(FHL1):c.550-2A>G
|
rs1556639352
|
|
|
NM_001159699.2(FHL1):c.55G>T (p.Glu19Ter)
|
rs2148371451
|
|
|
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter)
|
rs1603272191
|
|
|
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter)
|
rs1191211949
|
|
|
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)
|
rs1569530588
|
|
|
NM_001159699.2(FHL1):c.618del (p.Cys207fs)
|
rs2148378462
|
|
|
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter)
|
rs1603272223
|
|
|
NM_001159699.2(FHL1):c.644_650dup (p.Ala218fs)
|
rs2073913069
|
|
|
NM_001159699.2(FHL1):c.661dup (p.Asp221fs)
|
rs1556639379
|
|
|
NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs)
|
rs1603272263
|
|
|
NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)
|
|
|
|
NM_001159699.2(FHL1):c.672C>G (p.Tyr224Ter)
|
|
|
|
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg)
|
rs122459149
|
|
|
NM_001159699.2(FHL1):c.708_736+22del
|
rs2148378774
|
|
|
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)
|
rs122458141
|
|
|
NM_001159699.2(FHL1):c.736+1G>A
|
rs786200914
|
|
|
NM_001159699.2(FHL1):c.736+1G>C
|
rs786200914
|
|
|
NM_001159699.2(FHL1):c.736+2T>G
|
rs2073916521
|
|
|
NM_001159699.2(FHL1):c.792C>G (p.Tyr264Ter)
|
|
|
|
NM_001159699.2(FHL1):c.801delinsAA (p.His267fs)
|
|
|
|
NM_001159699.2(FHL1):c.810dup (p.Cys271fs)
|
rs2073964376
|
|
|
NM_001159699.2(FHL1):c.812dup (p.Cys271fs)
|
|
|
|
NM_001159699.2(FHL1):c.831del (p.Asn277fs)
|
|
|
|
NM_001159699.2(FHL1):c.834dup (p.Arg279fs)
|
|
|
|
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)
|
rs1603273685
|
|
|
NM_001159699.2(FHL1):c.853G>T (p.Glu285Ter)
|
|
|
|
NM_001159699.2(FHL1):c.856C>T (p.Gln286Ter)
|
|
|
|
NM_001159699.2(FHL1):c.857_870dup (p.Asp291fs)
|
|
|
|
NM_001159699.2(FHL1):c.863_864dup (p.Cys289fs)
|
rs2148383945
|
|
|
NM_001159699.2(FHL1):c.865dup (p.Cys289fs)
|
rs1603273697
|
|
|
NM_001159699.2(FHL1):c.875G>A (p.Cys292Tyr)
|
rs2148384040
|
|
|
NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu)
|
rs122459148
|
|
|
NM_001159702.3(FHL1):c.838G>A (p.Val280Met)
|
rs267606811
|
|
|
NM_001161403.3(LIMS2):c.968T>C (p.Leu323Pro)
|
rs869025562
|
|
|
NM_001161404.1(LIMS2):c.[261C>G;275C>T]
|
|
|
|
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.11038C>T (p.Gln3680Ter)
|
|
|
|
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.11806-1G>A
|
rs886041851
|
|
|
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.13252C>T (p.Gln4418Ter)
|
|
|
|
NM_001164508.2(NEB):c.13252_13253dup (p.Gln4418fs)
|
|
|
|
NM_001164508.2(NEB):c.13268T>A (p.Leu4423Ter)
|
|
|
|
NM_001164508.2(NEB):c.13283G>A (p.Trp4428Ter)
|
|
|
|
NM_001164508.2(NEB):c.13285G>T (p.Glu4429Ter)
|
rs2097550591
|
|
|
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.1471-1G>A
|
rs1553605995
|
|
|
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.16909-1G>A
|
rs2153806528
|
|
|
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.18597del (p.Tyr6200fs)
|
rs797045735
|
|
|
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.19712_19716delinsGAG (p.Ala6571fs)
|
rs587780397
|
|
|
NM_001164508.2(NEB):c.19800C>G (p.Tyr6600Ter)
|
rs552379239
|
|
|
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.20157+2T>A
|
rs1553717306
|
|
|
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.20467-2A>C
|
rs1392500142
|
|
|
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.20719del (p.His6907fs)
|
|
|
|
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.20808T>A (p.Tyr6936Ter)
|
rs753417634
|
|
|
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.20976del (p.Val6993fs)
|
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.21796_21810del (p.Pro7266_Gln7270del)
|
|
|
|
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.22479+1G>C
|
rs1057515575
|
|
|
NM_001164508.2(NEB):c.22511del (p.Lys7504fs)
|
rs2080623161
|
|
|
NM_001164508.2(NEB):c.22591-3C>G
|
|
|
|
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.23395_23398dup (p.Leu7800fs)
|
rs1057515574
|
|
|
NM_001164508.2(NEB):c.23449dup (p.Leu7817fs)
|
|
|
|
NM_001164508.2(NEB):c.23455C>T (p.Gln7819Ter)
|
|
|
|
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.23847del (p.Glu7950fs)
|
rs1575305566
|
|
|
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.24206C>A (p.Ser8069Ter)
|
rs1037388276
|
|
|
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.24238dup (p.Thr8080fs)
|
rs1575024425
|
|
|
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.24267_24270dup (p.Val8091fs)
|
rs747564597
|
|
|
NM_001164508.2(NEB):c.24268del (p.Arg8090fs)
|
|
|
|
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.24436_24439dup (p.Thr8147fs)
|
|
|
|
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.24766-1G>C
|
rs2152829108
|
|
|
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.24996del (p.Gln8333fs)
|
rs1553526884
|
|
|
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.25174G>T (p.Glu8392Ter)
|
rs121913662
|
|
|
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.302dup (p.Tyr101Ter)
|
|
|
|
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.3355A>T (p.Lys1119Ter)
|
|
|
|
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.3774+1G>A
|
rs111293259
|
|
|
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.5388T>A (p.Tyr1796Ter)
|
rs2099187757
|
|
|
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.5783_5784del (p.Tyr1928fs)
|
|
|
|
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.6734dup (p.Thr2246fs)
|
rs2099076059
|
|
|
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.7431+1919_7536+374del
|
|
|
|
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.7956+1G>A
|
rs2098919015
|
|
|
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.8160+1G>A
|
|
|
|
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.8425C>T (p.Arg2809Ter)
|
rs762881892
|
|
|
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.870_873del (p.Ser290fs)
|
rs2150050727
|
|
|
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.937C>T (p.Gln313Ter)
|
rs1577253760
|
|
|
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_001173464.2(KIF21A):c.1067T>C (p.Met356Thr)
|
rs121912588
|
|
|
NM_001173464.2(KIF21A):c.2371del (p.Arg791fs)
|
|
|
|
NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val)
|
rs121912589
|
|
|
NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg)
|
rs121912590
|
|
|
NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile)
|
rs267607200
|
|
|
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)
|
rs121912585
|
|
|
NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)
|
rs121912586
|
|
|
NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr)
|
rs121912587
|
|
|
NM_001195518.2(MICU1):c.1042C>T (p.Gln348Ter)
|
rs1135401814
|
|
|
NM_001195518.2(MICU1):c.1072-1G>C
|
rs754639936
|
|
|
NM_001195518.2(MICU1):c.310del (p.Ser104fs)
|
rs1840335901
|
|
|
NM_001195518.2(MICU1):c.355C>T (p.Arg119Ter)
|
rs538329212
|
|
|
NM_001195518.2(MICU1):c.40del (p.Ala14fs)
|
rs749124658
|
|
|
NM_001195518.2(MICU1):c.460C>T (p.Arg154Ter)
|
rs1840027040
|
|
|
NM_001195518.2:g.(?_74326370)_(74326571_?)del
|
|
|
|
NM_001199563.2(BVES):c.578T>G (p.Ile193Ser)
|
rs2114489353
|
|
|
NM_001199563.2(BVES):c.816+2T>C
|
rs1562133291
|
|
|
NM_001199563.2(POPDC1):c.457C>T (p.Gln153Ter)
|
rs1562137622
|
|
|
NM_001199563.2(POPDC1):c.602C>T (p.Ser201Phe)
|
rs869025337
|
|
|
NM_001206641.3(COA6):c.267G>C (p.Trp89Cys)
|
rs1558123786
|
|
|
NM_001206641.3(COA6):c.286T>C (p.Trp96Arg)
|
rs875989827
|
|
|
NM_001231.5(CASQ1):c.166A>T (p.Asn56Tyr)
|
|
|
|
NM_001231.5(CASQ1):c.308G>A (p.Gly103Asp)
|
|
|
|
NM_001231.5(CASQ1):c.731A>G (p.Asp244Gly)
|
rs730882052
|
|
|
NM_001243766.2(POMGNT1):c.-50-671_-50-663dup
|
rs966546165
|
|
|
NM_001256007.3(PNPLA8):c.2275_2276del (p.Leu759fs)
|
rs774184465
|
|
|
NM_001256007.3(PNPLA8):c.517G>T (p.Glu173Ter)
|
rs1462456361
|
|
|
NM_001256007.3(PNPLA8):c.524del (p.Ser175fs)
|
|
|
|
NM_001256007.3(PNPLA8):c.634_637del (p.Asn212fs)
|
rs786205882
|
|
|
NM_001256007.3(PNPLA8):c.870dup (p.Leu291fs)
|
|
|
|
NM_001256545.2(MEGF10):c.1169del (p.Gly390fs)
|
|
|
|
NM_001256545.2(MEGF10):c.1192G>T (p.Glu398Ter)
|
rs200174116
|
|
|
NM_001256545.2(MEGF10):c.131_132del (p.Val44fs)
|
|
|
|
NM_001256545.2(MEGF10):c.1325del (p.Pro442fs)
|
rs794726679
|
|
|
NM_001256545.2(MEGF10):c.1426+1G>T
|
|
|
|
NM_001256545.2(MEGF10):c.1518_1528del (p.Cys507fs)
|
rs2126973413
|
|
|
NM_001256545.2(MEGF10):c.1557del (p.Trp520fs)
|
rs1057518682
|
|
|
NM_001256545.2(MEGF10):c.198delinsACATTC (p.Trp66Ter)
|
rs1580733016
|
|
|
NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)
|
|
|
|
NM_001256545.2(MEGF10):c.2288_2297dup (p.Asp766delinsGluArgSerTer)
|
|
|
|
NM_001256545.2(MEGF10):c.2301C>A (p.Cys767Ter)
|
rs387907071
|
|
|
NM_001256545.2(MEGF10):c.240T>G (p.Tyr80Ter)
|
rs1234596293
|
|
|
NM_001256545.2(MEGF10):c.241C>T (p.Arg81Ter)
|
|
|
|
NM_001256545.2(MEGF10):c.2429G>A (p.Cys810Tyr)
|
|
|
|
NM_001256545.2(MEGF10):c.2530C>T (p.Arg844Ter)
|
rs1765909318
|
|
|
NM_001256545.2(MEGF10):c.2663C>G (p.Ser888Ter)
|
|
|
|
NM_001256545.2(MEGF10):c.2981-2A>G
|
|
|
|
NM_001256545.2(MEGF10):c.3094del (p.Thr1032fs)
|
rs2127045645
|
|
|
NM_001256545.2(MEGF10):c.3144T>G (p.Tyr1048Ter)
|
rs794726678
|
|
|
NM_001256545.2(MEGF10):c.3169A>T (p.Arg1057Ter)
|
rs1766329158
|
|
|
NM_001256545.2(MEGF10):c.352T>C (p.Cys118Arg)
|
|
|
|
NM_001256545.2(MEGF10):c.413_659del247 (p.Cys139fs)
|
|
|
|
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_001260.3(CDK8):c.185C>A (p.Ser62Ter)
|
rs1565977796
|
|
|
NM_001267052.2(UNC45B):c.1207T>C (p.Ser403Pro)
|
rs2092154042
|
|
|
NM_001267052.2(UNC45B):c.2255+5G>C
|
rs2092244236
|
|
|
NM_001267550.2(TTN):c.100389C>A (p.Tyr33463Ter)
|
|
|
|
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs)
|
rs878854281
|
|
|
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)
|
rs1057518195
|
|
|
NM_001267550.2(TTN):c.10115-1G>A
|
rs2088245783
|
|
|
NM_001267550.2(TTN):c.101789del (p.Leu33930fs)
|
rs1575285509
|
|
|
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.104849C>A (p.Ser34950Ter)
|
|
|
|
NM_001267550.2(TTN):c.104974_104995dup (p.Leu34999fs)
|
rs2154133662
|
|
|
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)
|
rs534484592
|
|
|
NM_001267550.2(TTN):c.105520del (p.Arg35174fs)
|
rs1688921542
|
|
|
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs)
|
rs199469665
|
|
|
NM_001267550.2(TTN):c.106070_106071del (p.Tyr35357fs)
|
|
|
|
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter)
|
rs886044460
|
|
|
NM_001267550.2(TTN):c.106160C>G (p.Ser35387Ter)
|
rs2154132755
|
|
|
NM_001267550.2(TTN):c.106358G>A (p.Trp35453Ter)
|
rs922408768
|
|
|
NM_001267550.2(TTN):c.106375-2A>G
|
rs1553482872
|
|
|
NM_001267550.2(TTN):c.106531+1G>A
|
rs760915007
|
|
|
NM_001267550.2(TTN):c.106541del (p.Asp35514fs)
|
rs2154131647
|
|
|
NM_001267550.2(TTN):c.106629del (p.Ala35544fs)
|
rs869312069
|
|
|
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs)
|
rs794727544
|
|
|
NM_001267550.2(TTN):c.107224-1G>C
|
rs112720067
|
|
|
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter)
|
rs1575185742
|
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
|
NM_001267550.2(TTN):c.107647del (p.Ser35883fs)
|
rs281864932
|
|
|
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
|
rs281864927
|
|
|
NM_001267550.2(TTN):c.107788T>C (p.Trp35930Arg)
|
rs1018591024
|
|
|
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)
|
rs281864928
|
|
|
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)
|
rs267607156
|
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
|
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)
|
rs281864929
|
|
|
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)
|
rs281864933
|
|
|
NM_001267550.2(TTN):c.12870dup (p.Val4291fs)
|
rs869025556
|
|
|
NM_001267550.2(TTN):c.13108C>T (p.Gln4370Ter)
|
rs267607158
|
|
|
NM_001267550.2(TTN):c.1507C>T (p.Gln503Ter)
|
|
|
|
NM_001267550.2(TTN):c.15496+1G>A
|
rs397517481
|
|
|
NM_001267550.2(TTN):c.15496+1G>T
|
rs397517481
|
|
|
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter)
|
rs747286444
|
|
|
NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter)
|
rs1578126437
|
|
|
NM_001267550.2(TTN):c.2099_2106dup (p.Ala703delinsLysLeuTer)
|
rs2093158866
|
|
|
NM_001267550.2(TTN):c.2219G>T (p.Arg740Leu)
|
rs28933405
|
|
|
NM_001267550.2(TTN):c.2228C>T (p.Ala743Val)
|
rs267607157
|
|
|
NM_001267550.2(TTN):c.2370+2T>C
|
rs1574817395
|
|
|
NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs)
|
rs797046060
|
|
|
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs)
|
rs2093000714
|
|
|
NM_001267550.2(TTN):c.29094_29095del (p.Phe9700fs)
|
rs1553882262
|
|
|
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg)
|
rs267607155
|
|
|
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs)
|
rs777924443
|
|
|
NM_001267550.2(TTN):c.29963-1G>C
|
rs1560513651
|
|
|
NM_001267550.2(TTN):c.3073dup (p.Ser1025fs)
|
rs2154350008
|
|
|
NM_001267550.2(TTN):c.31708_31711del (p.Glu10570fs)
|
|
|
|
NM_001267550.2(TTN):c.32312-1G>A
|
rs2070649864
|
|
|
NM_001267550.2(TTN):c.33826+1G>A
|
rs1389908421
|
|
|
NM_001267550.2(TTN):c.34253_34277del (p.Leu11418fs)
|
rs1373610867
|
|
|
NM_001267550.2(TTN):c.34922del (p.Pro11641fs)
|
rs1553809971
|
|
|
NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter)
|
rs557526069
|
|
|
NM_001267550.2(TTN):c.35154dup (p.Val11719fs)
|
rs2067087661
|
|
|
NM_001267550.2(TTN):c.35678_35685delinsA (p.Thr11893fs)
|
rs2066169270
|
|
|
NM_001267550.2(TTN):c.35756del (p.Pro11919fs)
|
rs1241310204
|
|
|
NM_001267550.2(TTN):c.38424del (p.Lys12809fs)
|
rs1553775991
|
|
|
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs)
|
rs752101551
|
|
|
NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs)
|
rs1553775212
|
|
|
NM_001267550.2(TTN):c.38809del (p.Glu12937fs)
|
|
|
|
NM_001267550.2(TTN):c.39109G>T (p.Glu13037Ter)
|
|
|
|
NM_001267550.2(TTN):c.40091dup (p.Glu13365fs)
|
|
|
|
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs)
|
rs2154244761
|
|
|
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.41608+1G>T
|
rs2154230056
|
|
|
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter)
|
rs2060187635
|
|
|
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)
|
rs797046064
|
|
|
NM_001267550.2(TTN):c.42521G>A (p.Trp14174Ter)
|
|
|
|
NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)
|
|
|
|
NM_001267550.2(TTN):c.45896-2A>C
|
|
|
|
NM_001267550.2(TTN):c.46455del (p.Pro15486fs)
|
rs2154210615
|
|
|
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.47692C>T (p.Arg15898Ter)
|
rs775186117
|
|
|
NM_001267550.2(TTN):c.47961del (p.Gly15988fs)
|
rs1553707780
|
|
|
NM_001267550.2(TTN):c.48638+1del
|
|
|
|
NM_001267550.2(TTN):c.49669A>T (p.Lys16557Ter)
|
rs2154200779
|
|
|
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.50375_50378del (p.Glu16792fs)
|
|
|
|
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter)
|
rs587780490
|
|
|
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.54000G>A (p.Trp18000Ter)
|
rs72646813
|
|
|
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.54406_54409del (p.Gln18136fs)
|
|
|
|
NM_001267550.2(TTN):c.54809del (p.Ile18270fs)
|
rs2154194604
|
|
|
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter)
|
rs1440093502
|
|
|
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter)
|
rs1477101279
|
|
|
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)
|
rs72646831
|
|
|
NM_001267550.2(TTN):c.57545-2A>G
|
|
|
|
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter)
|
rs2051361827
|
|
|
NM_001267550.2(TTN):c.58240_58244del (p.Pro19414fs)
|
rs2154187022
|
|
|
NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter)
|
rs72646837
|
|
|
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)
|
rs1553649171
|
|
|
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)
|
rs886039027
|
|
|
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.60931C>T (p.Arg20311Ter)
|
rs869312055
|
|
|
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter)
|
rs869312112
|
|
|
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)
|
rs794729278
|
|
|
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter)
|
rs757231565
|
|
|
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)
|
rs543860009
|
|
|
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.64252_64253insGAGTA (p.Tyr21418Ter)
|
|
|
|
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.6564dup (p.Asp2189fs)
|
|
|
|
NM_001267550.2(TTN):c.65863+1G>A
|
rs2154178615
|
|
|
NM_001267550.2(TTN):c.66769+2T>A
|
rs1060500483
|
|
|
NM_001267550.2(TTN):c.669+1G>A
|
rs1574982376
|
|
|
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter)
|
rs2154176072
|
|
|
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.67637-1G>C
|
rs886038831
|
|
|
NM_001267550.2(TTN):c.68286_68289dup (p.Trp22764fs)
|
rs2154174801
|
|
|
NM_001267550.2(TTN):c.68302A>T (p.Lys22768Ter)
|
rs2154174786
|
|
|
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.70876G>T (p.Glu23626Ter)
|
rs1559446852
|
|
|
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.74567G>A (p.Trp24856Ter)
|
rs1057518851
|
|
|
NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter)
|
rs781459488
|
|
|
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs)
|
rs794729340
|
|
|
NM_001267550.2(TTN):c.75435G>A (p.Trp25145Ter)
|
|
|
|
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.77100dup (p.Pro25701fs)
|
rs794729343
|
|
|
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.79096A>T (p.Lys26366Ter)
|
|
|
|
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.80380C>T (p.Gln26794Ter)
|
rs2154165062
|
|
|
NM_001267550.2(TTN):c.80623_85481del (p.Asp26875fs)
|
|
|
|
NM_001267550.2(TTN):c.81274C>T (p.Gln27092Ter)
|
rs2154163535
|
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
|
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)
|
rs769821404
|
|
|
NM_001267550.2(TTN):c.81942del (p.Glu27315fs)
|
|
|
|
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter)
|
rs886042331
|
|
|
NM_001267550.2(TTN):c.82548G>A (p.Trp27516Ter)
|
rs1559321340
|
|
|
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)
|
rs779874042
|
|
|
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)
|
rs869178171
|
|
|
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter)
|
rs869312118
|
|
|
NM_001267550.2(TTN):c.83861dup (p.Ile27955fs)
|
|
|
|
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.85464_88084del2621 (p.Glu28489fs)
|
|
|
|
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)
|
rs748689777
|
|
|
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter)
|
rs72648224
|
|
|
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs)
|
rs1285329277
|
|
|
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter)
|
rs794729384
|
|
|
NM_001267550.2(TTN):c.86168del (p.Phe28723fs)
|
|
|
|
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.89017C>T (p.Arg29673Ter)
|
rs886038916
|
|
|
NM_001267550.2(TTN):c.89197+2T>G
|
rs1575536935
|
|
|
NM_001267550.2(TTN):c.9163+1G>C
|
rs1060500549
|
|
|
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)
|
rs1698600051
|
|
|
NM_001267550.2(TTN):c.92001G>A (p.Trp30667Ter)
|
|
|
|
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)
|
rs869312065
|
|
|
NM_001267550.2(TTN):c.92812dup (p.Arg30938fs)
|
rs1559173391
|
|
|
NM_001267550.2(TTN):c.92877G>A (p.Trp30959Ter)
|
rs2154147664
|
|
|
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.94127dup (p.Tyr31376Ter)
|
|
|
|
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs)
|
rs727503546
|
|
|
NM_001267550.2(TTN):c.94754T>G (p.Leu31585Ter)
|
rs2154146081
|
|
|
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter)
|
rs1060500435
|
|
|
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)
|
rs869320739
|
|
|
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
|
rs869320740
|
|
|
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)
|
rs869320741
|
|
|
NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu)
|
rs786205367
|
|
|
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.95358C>G (p.Asn31786Lys)
|
rs869320743
|
|
|
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.97560G>A (p.Trp32520Ter)
|
rs1694489284
|
|
|
NM_001267550.2(TTN):c.98603del (p.Phe32868fs)
|
|
|
|
NM_001267550.2(TTN):c.98633dup (p.Ser32879fs)
|
|
|
|
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)
|
rs727504535
|
|
|
NM_001271208.1(NEB):c.21103delG
|
rs1553686994
|
|
|
NM_001271208.2(NEB):c.18696_18697insSVAelement
|
|
|
|
NM_001271208.2(NEB):c.22378del
|
|
|
|
NM_001289808.2(CRYAB):c.325G>C (p.Asp109His)
|
rs387907339
|
|
|
NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly)
|
rs104894201
|
|
|
NM_001289808.2(CRYAB):c.451C>T (p.Gln151Ter)
|
rs104894202
|
|
|
NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs)
|
rs1566402514
|
|
|
NM_001289808.2(CRYAB):c.514del (p.Ala172fs)
|
rs1965352990
|
|
|
NM_001289808.2(CRYAB):c.60del (p.Ser21fs)
|
rs281865141
|
|
|
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
|
|
|
|
NM_001364012.2:c.-164GGC[(66_517)]
|
|
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
|
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)
|
rs121908334
|
|
|
NM_001382.4(DPAGT1):c.1133A>T (p.Asn378Ile)
|
|
|
|
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.1453del (p.Val485fs)
|
|
|
|
NM_001382567.1(STIM1):c.1463T>A (p.Leu488Ter)
|
|
|
|
NM_001382567.1(STIM1):c.163_164del (p.Leu55fs)
|
rs2135736277
|
|
|
NM_001382567.1(STIM1):c.216C>G (p.His72Gln)
|
rs397515436
|
|
|
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr)
|
rs748277951
|
|
|
NM_001382567.1(STIM1):c.251A>G (p.Asp84Gly)
|
rs397514675
|
|
|
NM_001382567.1(STIM1):c.325C>A (p.His109Asn)
|
rs397514676
|
|
|
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_001397406.1(FDX2):c.1A>T (p.Met1Leu)
|
rs587777600
|
|
|
NM_001397406.1(FDX2):c.422C>T (p.Pro141Leu)
|
rs888630930
|
|
|
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.2789_2800del (p.Val930_Thr933del)
|
rs1562995872
|
|
|
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.665T>C (p.Met222Thr)
|
|
|
|
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.733G>A (p.Val245Met)
|
|
|
|
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.752T>C (p.Met251Thr)
|
rs387906586
|
|
|
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_001843.4(CNTN1):c.871dup (p.Ser291fs)
|
rs587776718
|
|
|
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.1006del
|
|
|
|
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+2T>C
|
rs797044456
|
|
|
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.1465del (p.Ala489fs)
|
rs797044458
|
|
|
NM_001848.3(COL6A1):c.148del (p.Ala49_Leu50insTer)
|
rs1556423728
|
|
|
NM_001848.3(COL6A1):c.1577G>T (p.Gly526Val)
|
rs121912934
|
|
|
NM_001848.3(COL6A1):c.1591del (p.Arg531fs)
|
rs2077819120
|
|
|
NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs)
|
rs1569518771
|
|
|
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.1977C>G (p.Tyr659Ter)
|
rs121912937
|
|
|
NM_001848.3(COL6A1):c.234C>A (p.Tyr78Ter)
|
|
|
|
NM_001848.3(COL6A1):c.2431_2434+36del
|
rs759918870
|
|
|
NM_001848.3(COL6A1):c.2460C>A (p.Cys820Ter)
|
rs2077858751
|
|
|
NM_001848.3(COL6A1):c.2551_2562del (p.Phe851_Arg854del)
|
|
|
|
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>A (p.Gly275Glu)
|
rs1556425468
|
|
|
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.857del (p.Pro286fs)
|
rs797044457
|
|
|
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.869G>A (p.Gly290Glu)
|
rs1603590637
|
|
|
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.957+2T>C
|
rs794727060
|
|
|
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.101_104del (p.Asn34fs)
|
rs2123612919
|
|
|
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>C
|
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.1117-10A>G
|
rs1568931397
|
|
|
NM_001849.4(COL6A2):c.1151dup (p.Glu386fs)
|
rs1601231322
|
|
|
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.1488_1513del (p.Arg498fs)
|
|
|
|
NM_001849.4(COL6A2):c.1507C>T (p.Gln503Ter)
|
|
|
|
NM_001849.4(COL6A2):c.1521+1G>A
|
rs2123646873
|
|
|
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.1771-1G>A
|
rs748035948
|
|
|
NM_001849.4(COL6A2):c.1771-1G>T
|
rs748035948
|
|
|
NM_001849.4(COL6A2):c.1817-2A>C
|
|
|
|
NM_001849.4(COL6A2):c.1856_1861del (p.Val619_Ile620del)
|
rs398122821
|
|
|
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.2422+1G>A
|
rs113828929
|
|
|
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter)
|
rs121912942
|
|
|
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.2626C>A (p.Arg876Ser)
|
rs387906608
|
|
|
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.439C>T (p.Gln147Ter)
|
rs2123615453
|
|
|
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.801+631_882del
|
|
|
|
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.901G>T (p.Gly301Cys)
|
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.954+1G>A
|
|
|
|
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.955-2A>C
|
rs1555873084
|
|
|
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.1009G>C (p.Ala337Pro)
|
rs59962885
|
|
|
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.1056GGA[3] (p.Glu353_Asp354insGlu)
|
|
|
|
NM_001927.4(DES):c.1069G>C (p.Ala357Pro)
|
rs58898021
|
|
|
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del)
|
rs58409037
|
|
|
NM_001927.4(DES):c.1078G>C (p.Ala360Pro)
|
rs121913000
|
|
|
NM_001927.4(DES):c.1090C>T (p.Gln364Ter)
|
rs1224165687
|
|
|
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del)
|
rs1575014889
|
|
|
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)
|
rs58687088
|
|
|
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.1154T>C (p.Leu385Pro)
|
rs57955682
|
|
|
NM_001927.4(DES):c.1166A>C (p.Gln389Pro)
|
rs121913004
|
|
|
NM_001927.4(DES):c.1171del (p.Leu391fs)
|
|
|
|
NM_001927.4(DES):c.1178A>T (p.Asn393Ile)
|
rs121913001
|
|
|
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.1255_1271del (p.Pro419fs)
|
rs1553603732
|
|
|
NM_001927.4(DES):c.1256C>T (p.Pro419Leu)
|
rs796667045
|
|
|
NM_001927.4(DES):c.1289-2A>G
|
rs398122940
|
|
|
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.336_344del (p.Gln113_Leu115del)
|
rs1553603239
|
|
|
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.521_541del (p.Ala174_Arg180del)
|
rs60538473
|
|
|
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.578+2T>C
|
|
|
|
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.639+4_639+5del
|
rs730880289
|
|
|
NM_001927.4(DES):c.640-1G>A
|
rs267607484
|
|
|
NM_001927.4(DES):c.700G>T (p.Glu234Ter)
|
rs774739275
|
|
|
NM_001927.4(DES):c.720_722del (p.Lys241del)
|
rs2125167652
|
|
|
NM_001927.4(DES):c.735+1G>A
|
rs397516698
|
|
|
NM_001927.4(DES):c.735+1G>C
|
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_001953.4(TYMP):c.929-3G>A
|
|
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
|
NM_001953.5(TYMP):c.1010_1019delinsAA (p.Gly337fs)
|
rs1064792892
|
|
|
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter)
|
rs765023287
|
|
|
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro)
|
rs1060499532
|
|
|
NM_001953.5(TYMP):c.1088del (p.Gly363fs)
|
rs1060499535
|
|
|
NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro)
|
rs1060499533
|
|
|
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter)
|
rs1054084896
|
|
|
NM_001953.5(TYMP):c.1159+2T>A
|
rs770277446
|
|
|
NM_001953.5(TYMP):c.1160-1G>C
|
rs797044455
|
|
|
NM_001953.5(TYMP):c.1160-2A>C
|
rs1064792877
|
|
|
NM_001953.5(TYMP):c.1160-2A>G
|
rs1064792877
|
|
|
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp)
|
rs1064792873
|
|
|
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del)
|
rs786205098
|
|
|
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del)
|
rs1027855768
|
|
|
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer)
|
rs764792655
|
|
|
NM_001953.5(TYMP):c.1211dup (p.Gly405fs)
|
rs1556486467
|
|
|
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser)
|
rs1064792874
|
|
|
NM_001953.5(TYMP):c.1300+2T>A
|
rs1064792879
|
|
|
NM_001953.5(TYMP):c.1301-1G>A
|
rs773785934
|
|
|
NM_001953.5(TYMP):c.1311del (p.Trp437fs)
|
rs1064792889
|
|
|
NM_001953.5(TYMP):c.131G>A (p.Arg44Gln)
|
rs28931613
|
|
|
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs)
|
rs1064792890
|
|
|
NM_001953.5(TYMP):c.1351dup (p.Gln451fs)
|
rs1556486029
|
|
|
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro)
|
rs764275775
|
|
|
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del)
|
rs1064792891
|
|
|
NM_001953.5(TYMP):c.1410dup (p.Ser471fs)
|
rs786205097
|
|
|
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter)
|
rs11479
|
|
|
NM_001953.5(TYMP):c.1431dup (p.Leu478fs)
|
rs1064792885
|
|
|
NM_001953.5(TYMP):c.146T>G (p.Leu49Arg)
|
rs1064792857
|
|
|
NM_001953.5(TYMP):c.162C>G (p.Ile54Met)
|
rs1064792858
|
|
|
NM_001953.5(TYMP):c.228G>A (p.Met76Ile)
|
rs1064792859
|
|
|
NM_001953.5(TYMP):c.261G>C (p.Glu87Asp)
|
rs749827433
|
|
|
NM_001953.5(TYMP):c.261G>T (p.Glu87Asp)
|
rs749827433
|
|
|
NM_001953.5(TYMP):c.263_264del (p.Thr88fs)
|
rs1064792886
|
|
|
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn)
|
rs891107196
|
|
|
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
|
|
|
|
NM_001953.5(TYMP):c.328C>T (p.Gln110Ter)
|
rs1064792860
|
|
|
NM_001953.5(TYMP):c.398T>C (p.Leu133Pro)
|
rs1064792862
|
|
|
NM_001953.5(TYMP):c.401C>A (p.Ala134Glu)
|
rs199901350
|
|
|
NM_001953.5(TYMP):c.417+1G>A
|
rs1603442040
|
|
|
NM_001953.5(TYMP):c.467A>G (p.Asp156Gly)
|
rs1064792863
|
|
|
NM_001953.5(TYMP):c.478T>C (p.Ser160Pro)
|
rs1064792864
|
|
|
NM_001953.5(TYMP):c.516+2T>A
|
rs797044454
|
|
|
NM_001953.5(TYMP):c.516+2T>C
|
rs797044454
|
|
|
NM_001953.5(TYMP):c.518T>G (p.Met173Arg)
|
rs1064792865
|
|
|
NM_001953.5(TYMP):c.530T>C (p.Leu177Pro)
|
rs1064792866
|
|
|
NM_001953.5(TYMP):c.605G>A (p.Arg202Lys)
|
rs121913041
|
|
|
NM_001953.5(TYMP):c.605G>C (p.Arg202Thr)
|
rs121913041
|
|
|
NM_001953.5(TYMP):c.623T>G (p.Val208Gly)
|
rs1064792867
|
|
|
NM_001953.5(TYMP):c.707T>C (p.Phe236Ser)
|
rs1064792868
|
|
|
NM_001953.5(TYMP):c.715G>A (p.Ala239Thr)
|
rs1064792869
|
|
|
NM_001953.5(TYMP):c.720del (p.Val241fs)
|
rs1064792887
|
|
|
NM_001953.5(TYMP):c.763_765del (p.Leu255del)
|
rs1556488264
|
|
|
NM_001953.5(TYMP):c.784del (p.Ser261_Leu262insTer)
|
rs1064792888
|
|
|
NM_001953.5(TYMP):c.847C>G (p.His283Asp)
|
rs1064792871
|
|
|
NM_001953.5(TYMP):c.86dup (p.Ser30fs)
|
|
|
|
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)
|
rs1064792872
|
|
|
NM_001953.5(TYMP):c.928+1G>A
|
rs1064792876
|
|
|
NM_001953.5(TYMP):c.931G>C (p.Gly311Arg)
|
rs121913040
|
|
|
NM_001953.5(TYMP):c.931G>T (p.Gly311Cys)
|
rs121913040
|
|
|
NM_001953.5(TYMP):c.938T>C (p.Leu313Pro)
|
rs892141220
|
|
|
NM_001953.5(TYMP):c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly)
|
rs1064792881
|
|
|
NM_001953.5(TYMP):c.99dup (p.Lys34fs)
|
rs1064792880
|
|
|
NM_002137.4(HNRNPA2B1):c.869A>T (p.Asp290Val)
|
rs397515326
|
|
|
NM_002137.4(HNRNPA2B1):c.968del (p.Asn323fs)
|
|
|
|
NM_002137.4(HNRNPA2B1):c.981del (p.Gly328fs)
|
|
|
|
NM_002137.4(HNRNPA2B1):c.992del (p.Gly331fs)
|
|
|
|
NM_002137.4(HNRNPA2B1):c.996_997dup (p.Gly333fs)
|
|
|
|
NM_002206.3(ITGA7):c.1088del (p.Gly363fs)
|
rs587780362
|
|
|
NM_002206.3(ITGA7):c.1088dup (p.His364fs)
|
rs587780362
|
|
|
NM_002206.3(ITGA7):c.1205del (p.Gly402fs)
|
rs1565629479
|
|
|
NM_002206.3(ITGA7):c.1327_1328del (p.Leu443fs)
|
|
|
|
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs)
|
rs1474512248
|
|
|
NM_002206.3(ITGA7):c.1456C>T (p.Arg486Ter)
|
rs372328960
|
|
|
NM_002206.3(ITGA7):c.1506-2A>G
|
rs1565627745
|
|
|
NM_002206.3(ITGA7):c.1767del (p.Ile589fs)
|
|
|
|
NM_002206.3(ITGA7):c.187C>T (p.Gln63Ter)
|
rs1228677393
|
|
|
NM_002206.3(ITGA7):c.1966del (p.Thr656fs)
|
|
|
|
NM_002206.3(ITGA7):c.207G>A (p.Trp69Ter)
|
rs1874440714
|
|
|
NM_002206.3(ITGA7):c.2169_2171del (p.Tyr723_Ser724delinsTer)
|
rs1872274494
|
|
|
NM_002206.3(ITGA7):c.226C>T (p.Gln76Ter)
|
rs2136073462
|
|
|
NM_002206.3(ITGA7):c.2276del (p.Gln759fs)
|
|
|
|
NM_002206.3(ITGA7):c.2331_2344del (p.Glu777fs)
|
rs2135999822
|
|
|
NM_002206.3(ITGA7):c.2446C>T (p.Gln816Ter)
|
rs1565620275
|
|
|
NM_002206.3(ITGA7):c.2491C>T (p.Gln831Ter)
|
|
|
|
NM_002206.3(ITGA7):c.2670del (p.Gln891fs)
|
|
|
|
NM_002206.3(ITGA7):c.2710del (p.Leu904fs)
|
|
|
|
NM_002206.3(ITGA7):c.2712+2T>C
|
rs774985604
|
|
|
NM_002206.3(ITGA7):c.2749dup (p.Glu917fs)
|
rs1871773510
|
|
|
NM_002206.3(ITGA7):c.2817del (p.Ala940fs)
|
|
|
|
NM_002206.3(ITGA7):c.29G>A (p.Trp10Ter)
|
rs775325159
|
|
|
NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter)
|
rs754699820
|
|
|
NM_002206.3(ITGA7):c.34dup (p.Ala12fs)
|
rs1384460756
|
|
|
NM_002206.3(ITGA7):c.517del (p.Arg173fs)
|
rs2136056222
|
|
|
NM_002206.3(ITGA7):c.97_98insTG (p.Ala33fs)
|
|
|
|
NM_002226.5(JAG2):c.1219_1225del (p.Phe407fs)
|
rs2140979845
|
|
|
NM_002226.5(JAG2):c.221G>C (p.Cys74Ser)
|
rs2141000225
|
|
|
NM_002226.5(JAG2):c.490G>A (p.Glu164Lys)
|
rs1888570315
|
|
|
NM_002226.5(JAG2):c.728C>A (p.Ala243Asp)
|
rs867073471
|
|
|
NM_002465.4(MYBPC1):c.739T>C (p.Tyr247His)
|
rs1593846841
|
|
|
NM_002465.4(MYBPC1):c.742G>A (p.Glu248Lys)
|
rs564856283
|
|
|
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro)
|
rs1421405659
|
|
|
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg)
|
rs1565943228
|
|
|
NM_002478.5(MYOD1):c.557dup (p.Arg188fs)
|
rs1179926739
|
|
|
NM_002478.5(MYOD1):c.697G>T (p.Glu233Ter)
|
rs768652299
|
|
|
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
|
|
|
|
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer)
|
rs121908985
|
|
|
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)
|
rs104893898
|
|
|
NM_002495.4(NDUFS4):c.350+1G>A
|
rs1260453815
|
|
|
NM_002495.4(NDUFS4):c.350+5G>A
|
rs1751865973
|
|
|
NM_002495.4(NDUFS4):c.393dup (p.Glu132fs)
|
|
|
|
NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter)
|
rs104893899
|
|
|
NM_002495.4(NDUFS4):c.462del (p.Lys154fs)
|
rs587776949
|
|
|
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs)
|
rs1445075330
|
|
|
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)
|
rs2055531147
|
|
|
NM_002693.3(POLG):c.1491G>C (p.Gln497His)
|
rs121918052
|
|
|
NM_002693.3(POLG):c.1532G>A (p.Ser511Asn)
|
rs121918055
|
|
|
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)
|
rs139717885
|
|
|
NM_002693.3(POLG):c.2515del (p.Ala839fs)
|
rs1596352895
|
|
|
NM_002693.3(POLG):c.2669A>C (p.Asp890Ala)
|
rs1567186779
|
|
|
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)
|
rs121918048
|
|
|
NM_002693.3(POLG):c.2863T>C (p.Tyr955His)
|
|
|
|
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)
|
rs113994099
|
|
|
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)
|
rs121918051
|
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
|
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)
|
rs1596348443
|
|
|
NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter)
|
rs139562274
|
|
|
NM_002693.3(POLG):c.3643+2T>C
|
rs1335880349
|
|
|
NM_002693.3(POLG):c.8G>C (p.Arg3Pro)
|
rs121918045
|
|
|
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)
|
rs886041592
|
|
|
NM_002936.6(RNASEH1):c.554C>T (p.Ala185Val)
|
rs1057517675
|
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
|
NM_003002.4(SDHD):c.275A>G (p.Asp92Gly)
|
rs786205436
|
|
|
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter)
|
rs1131691065
|
|
|
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)
|
rs587776648
|
|
|
NM_003279.3(TNNC2):c.100G>T (p.Asp34Tyr)
|
|
|
|
NM_003279.3(TNNC2):c.237G>C (p.Met79Ile)
|
|
|
|
NM_003283.6(TNNT1):c.120dup (p.Lys41fs)
|
rs1555859304
|
|
|
NM_003283.6(TNNT1):c.16G>T (p.Glu6Ter)
|
|
|
|
NM_003283.6(TNNT1):c.194A>C (p.Asp65Ala)
|
|
|
|
NM_003283.6(TNNT1):c.287T>C (p.Leu96Pro)
|
|
|
|
NM_003283.6(TNNT1):c.311A>T (p.Glu104Val)
|
rs2085441049
|
|
|
NM_003283.6(TNNT1):c.334G>T (p.Glu112Ter)
|
|
|
|
NM_003283.6(TNNT1):c.353del (p.Thr118fs)
|
rs2085439767
|
|
|
NM_003283.6(TNNT1):c.415G>T (p.Glu139Ter)
|
rs1250741190
|
|
|
NM_003283.6(TNNT1):c.452del (p.Lys151fs)
|
rs2085385176
|
|
|
NM_003283.6(TNNT1):c.607_610delinsTAGTGCTGT (p.Leu203_Arg204delinsTer)
|
|
|
|
NM_003283.6(TNNT1):c.611+1G>A
|
|
|
|
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.724G>C (p.Ala242Pro)
|
|
|
|
NM_003283.6(TNNT1):c.74-67C>A
|
|
|
|
NM_003283.6(TNNT1):c.78del (p.Glu27fs)
|
rs1224321111
|
|
|
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)
|
rs137853306
|
|
|
NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del)
|
rs199476147
|
|
|
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del)
|
rs199476146
|
|
|
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)
|
rs104894129
|
|
|
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)
|
rs199476153
|
|
|
NM_003289.4(TPM2):c.440A>C (p.Gln147Pro)
|
rs104894128
|
|
|
NM_003289.4(TPM2):c.606C>G (p.Asn202Lys)
|
rs137853307
|
|
|
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)
|
rs1824676022
|
|
|
NM_003319.4(TTN):c.43495_43496dup (p.Thr14500fs)
|
rs2154172276
|
|
|
NM_003418.5(CNBP):c.-14-833_-14-806CCTG[(75_11000)]
|
|
|
|
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)
|
rs727503909
|
|
|
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs)
|
rs886042504
|
|
|
NM_003494.4(DYSF):c.1481-1G>A
|
rs398123770
|
|
|
NM_003494.4(DYSF):c.1642del
|
rs398123772
|
|
|
NM_003673.4(TCAP):c.110_110+1del
|
rs786205076
|
|
|
NM_003673.4(TCAP):c.26_33dup (p.Glu12fs)
|
rs778568339
|
|
|
NM_003673.4(TCAP):c.90_91del (p.Ser31fs)
|
rs1555606976
|
|
|
NM_003863.4(DPM2):c.109C>T (p.Gln37Ter)
|
|
|
|
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)
|
rs549450795
|
|
|
NM_003863.4(DPM2):c.173G>A (p.Gly58Asp)
|
rs1185338798
|
|
|
NM_003863.4(DPM2):c.29del (p.Gly10fs)
|
|
|
|
NM_003863.4(DPM2):c.37del (p.Leu13fs)
|
rs1349389319
|
|
|
NM_003863.4(DPM2):c.4-1G>C
|
rs797044467
|
|
|
NM_003863.4(DPM2):c.68A>G (p.Tyr23Cys)
|
rs397514503
|
|
|
NM_003888.4(ALDH1A2):c.1040G>A (p.Arg347His)
|
|
|
|
NM_003888.4(ALDH1A2):c.1147G>A (p.Ala383Thr)
|
|
|
|
NM_003888.4(ALDH1A2):c.1382C>A (p.Ser461Tyr)
|
|
|
|
NM_003888.4(ALDH1A2):c.544C>A (p.Gln182Lys)
|
|
|
|
NM_004006.2(DMD):c.(?_32)_(649_?)del
|
|
|
|
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)
|
rs886043375
|
|
|
NM_004006.2(DMD):c.1307_1332-7556del
|
|
|
|
NM_004006.2(DMD):c.32-?_93+?dup62
|
|
|
|
NM_004006.2(DMD):c.6251_6290+12981del
|
|
|
|
NM_004006.2(DMD):c.7661-?_10921+?del
|
|
|
|
NM_004006.2(DMD):c.94-?_4233+?del
|
|
|
|
NM_004006.3(DMD):c.10000del (p.Tyr3334fs)
|
rs2148311910
|
|
|
NM_004006.3(DMD):c.10019G>A (p.Cys3340Tyr)
|
rs104894788
|
|
|
NM_004006.3(DMD):c.10027dup (p.Ser3343fs)
|
|
|
|
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)
|
rs398123827
|
|
|
NM_004006.3(DMD):c.10051_10067del (p.Lys3351fs)
|
|
|
|
NM_004006.3(DMD):c.10062T>A (p.Tyr3354Ter)
|
rs886042875
|
|
|
NM_004006.3(DMD):c.1006G>T (p.Glu336Ter)
|
rs1057522454
|
|
|
NM_004006.3(DMD):c.10077T>G (p.Tyr3359Ter)
|
rs1181271457
|
|
|
NM_004006.3(DMD):c.10086+1G>A
|
rs398123828
|
|
|
NM_004006.3(DMD):c.10086+1G>T
|
rs398123828
|
|
|
NM_004006.3(DMD):c.10086+2T>C
|
rs2148310866
|
|
|
NM_004006.3(DMD):c.10087-1G>A
|
rs1602417503
|
|
|
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)
|
rs886042840
|
|
|
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)
|
rs104894787
|
|
|
NM_004006.3(DMD):c.10126del (p.Val3375_Leu3376insTer)
|
rs886043676
|
|
|
NM_004006.3(DMD):c.10133del (p.Asn3378fs)
|
rs863224975
|
|
|
NM_004006.3(DMD):c.10135A>T (p.Lys3379Ter)
|
rs2148291755
|
|
|
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)
|
rs104894790
|
|
|
NM_004006.3(DMD):c.10155T>G (p.Tyr3385Ter)
|
|
|
|
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)
|
rs398123832
|
|
|
NM_004006.3(DMD):c.10182C>A (p.Tyr3394Ter)
|
rs1602416457
|
|
|
NM_004006.3(DMD):c.10192C>T (p.Gln3398Ter)
|
rs398123833
|
|
|
NM_004006.3(DMD):c.10210dup (p.Asp3404fs)
|
rs2040821014
|
|
|
NM_004006.3(DMD):c.10217del (p.Met3406fs)
|
rs2148290349
|
|
|
NM_004006.3(DMD):c.10223+1G>A
|
rs398123834
|
|
|
NM_004006.3(DMD):c.10223+1G>C
|
rs398123834
|
|
|
NM_004006.3(DMD):c.10223+4A>G
|
rs2148290215
|
|
|
NM_004006.3(DMD):c.10223+5G>C
|
rs2148290176
|
|
|
NM_004006.3(DMD):c.10223+5G>T
|
rs2148290176
|
|
|
NM_004006.3(DMD):c.10224-175_10230del
|
rs1556035817
|
|
|
NM_004006.3(DMD):c.10224-175_10238del
|
rs2040711393
|
|
|
NM_004006.3(DMD):c.10224-1dup
|
rs1602409174
|
|
|
NM_004006.3(DMD):c.10224dup (p.Pro3409fs)
|
rs2148280837
|
|
|
NM_004006.3(DMD):c.10227del (p.Val3410fs)
|
rs2040714340
|
|
|
NM_004006.3(DMD):c.10227dup (p.Val3410fs)
|
|
|
|
NM_004006.3(DMD):c.10238del (p.Ile3413fs)
|
rs1556035795
|
|
|
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter)
|
rs376745644
|
|
|
NM_004006.3(DMD):c.10258dup (p.Ser3420fs)
|
rs398123835
|
|
|
NM_004006.3(DMD):c.10260_10261insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTCCACAAAGCCTCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGCTGGCCAGTAGATTCT (p.Ala3421delinsPhePhePhePhePhePheXaaXaaXaaXaaPheHisLysAlaSerIleValIleLeuAlaArgSerGlnTer)
|
|
|
|
NM_004006.3(DMD):c.10297dup (p.Thr3433fs)
|
rs2040217313
|
|
|
NM_004006.3(DMD):c.10304C>G (p.Ser3435Ter)
|
rs1602369798
|
|
|
NM_004006.3(DMD):c.1032T>A (p.Tyr344Ter)
|
rs2146834581
|
|
|
NM_004006.3(DMD):c.1033C>T (p.Gln345Ter)
|
rs2146834557
|
|
|
NM_004006.3(DMD):c.10361del (p.Tyr3454fs)
|
rs886043084
|
|
|
NM_004006.3(DMD):c.10367del (p.Asn3456fs)
|
rs1556028034
|
|
|
NM_004006.3(DMD):c.10395-1G>C
|
rs1602338283
|
|
|
NM_004006.3(DMD):c.103C>T (p.Gln35Ter)
|
rs2149015656
|
|
|
NM_004006.3(DMD):c.10406_10407insAA (p.His3469fs)
|
rs1060502630
|
|
|
NM_004006.3(DMD):c.10409del (p.Leu3470fs)
|
rs2039782181
|
|
|
NM_004006.3(DMD):c.10412T>G (p.Leu3471Ter)
|
rs863224976
|
|
|
NM_004006.3(DMD):c.10425C>G (p.Tyr3475Ter)
|
rs2148184732
|
|
|
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter)
|
rs895755247
|
|
|
NM_004006.3(DMD):c.10453_10454del (p.Leu3485fs)
|
rs398123838
|
|
|
NM_004006.3(DMD):c.10453del (p.Pro3484_Leu3485insTer)
|
rs886043375
|
|
|
NM_004006.3(DMD):c.10454del (p.Leu3485fs)
|
rs398123839
|
|
|
NM_004006.3(DMD):c.10454dup (p.Ser3486fs)
|
rs2148184058
|
|
|
NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter)
|
rs886042495
|
|
|
NM_004006.3(DMD):c.10477del (p.Gln3493fs)
|
rs2148183751
|
|
|
NM_004006.3(DMD):c.10482del (p.Ile3494_Leu3495insTer)
|
rs2148183611
|
|
|
NM_004006.3(DMD):c.10484T>A (p.Leu3495Ter)
|
|
|
|
NM_004006.3(DMD):c.10484_10491delinsG (p.Leu3495fs)
|
rs2148183552
|
|
|
NM_004006.3(DMD):c.10498_10499del (p.Glu3499_Ser3500insTer)
|
rs1602337330
|
|
|
NM_004006.3(DMD):c.10504G>T (p.Glu3502Ter)
|
rs863224977
|
|
|
NM_004006.3(DMD):c.10506_10507del (p.Glu3505fs)
|
|
|
|
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs)
|
rs878854366
|
|
|
NM_004006.3(DMD):c.10523_10524del (p.Arg3508fs)
|
|
|
|
NM_004006.3(DMD):c.1053_1065del (p.Leu352fs)
|
|
|
|
NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter)
|
rs1569401103
|
|
|
NM_004006.3(DMD):c.10563del (p.Ala3522fs)
|
rs2147936347
|
|
|
NM_004006.3(DMD):c.1061G>A (p.Trp354Ter)
|
rs1060502644
|
|
|
NM_004006.3(DMD):c.10633_10634dup (p.Met3545fs)
|
rs1602146767
|
|
|
NM_004006.3(DMD):c.10642dup (p.Thr3548fs)
|
rs2147934840
|
|
|
NM_004006.3(DMD):c.10677dup (p.Ala3560fs)
|
rs2147934458
|
|
|
NM_004006.3(DMD):c.10725del (p.Met3576fs)
|
rs1060502625
|
|
|
NM_004006.3(DMD):c.10753C>T (p.Gln3585Ter)
|
rs2147933949
|
|
|
NM_004006.3(DMD):c.1075G>T (p.Glu359Ter)
|
rs1556876346
|
|
|
NM_004006.3(DMD):c.10765C>T (p.Gln3589Ter)
|
rs1602145926
|
|
|
NM_004006.3(DMD):c.10783C>T (p.Gln3595Ter)
|
rs1385794215
|
|
|
NM_004006.3(DMD):c.10797+1G>A
|
rs1060502626
|
|
|
NM_004006.3(DMD):c.10797+2T>A
|
rs2036834025
|
|
|
NM_004006.3(DMD):c.10813A>T (p.Lys3605Ter)
|
rs2036700718
|
|
|
NM_004006.3(DMD):c.10855C>T (p.Gln3619Ter)
|
rs2147921886
|
|
|
NM_004006.3(DMD):c.1087C>T (p.Gln363Ter)
|
rs2059695805
|
|
|
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter)
|
rs794726993
|
|
|
NM_004006.3(DMD):c.1098dup (p.Glu367fs)
|
rs2146833198
|
|
|
NM_004006.3(DMD):c.1129del (p.Asp377fs)
|
rs1602467787
|
|
|
NM_004006.3(DMD):c.1144del (p.His382fs)
|
rs1602467590
|
|
|
NM_004006.3(DMD):c.1147G>T (p.Glu383Ter)
|
rs1602467530
|
|
|
NM_004006.3(DMD):c.1149+1G>A
|
rs1060502634
|
|
|
NM_004006.3(DMD):c.1150-14_1158dup
|
|
|
|
NM_004006.3(DMD):c.1150-2A>G
|
rs794727030
|
|
|
NM_004006.3(DMD):c.1150-2A>T
|
rs794727030
|
|
|
NM_004006.3(DMD):c.1150-2_1150-1del
|
rs2146822662
|
|
|
NM_004006.3(DMD):c.1150-2del
|
rs863224978
|
|
|
NM_004006.3(DMD):c.1177C>T (p.Gln393Ter)
|
rs2146821938
|
|
|
NM_004006.3(DMD):c.1183del (p.Arg395fs)
|
rs2146821772
|
|
|
NM_004006.3(DMD):c.1201C>T (p.Gln401Ter)
|
rs2146821257
|
|
|
NM_004006.3(DMD):c.1207G>T (p.Gly403Ter)
|
rs2146821137
|
|
|
NM_004006.3(DMD):c.1236dup (p.Ser413fs)
|
|
|
|
NM_004006.3(DMD):c.1238C>A (p.Ser413Ter)
|
rs2059646164
|
|
|
NM_004006.3(DMD):c.1240G>T (p.Glu414Ter)
|
rs2146820376
|
|
|
NM_004006.3(DMD):c.1254_1255dup (p.Glu419fs)
|
rs1602460062
|
|
|
NM_004006.3(DMD):c.1261C>T (p.Gln421Ter)
|
rs398123852
|
|
|
NM_004006.3(DMD):c.1264del (p.Glu422fs)
|
|
|
|
NM_004006.3(DMD):c.1266_1270dup (p.Met424fs)
|
|
|
|
NM_004006.3(DMD):c.1283del (p.Asn428fs)
|
rs2059643357
|
|
|
NM_004006.3(DMD):c.1286C>A (p.Ser429Ter)
|
rs398123853
|
|
|
NM_004006.3(DMD):c.1286C>G (p.Ser429Ter)
|
rs398123853
|
|
|
NM_004006.3(DMD):c.1292G>A (p.Trp431Ter)
|
rs1556875224
|
|
|
NM_004006.3(DMD):c.1294_1295dup (p.Cys433fs)
|
rs2059642653
|
|
|
NM_004006.3(DMD):c.1299C>A (p.Cys433Ter)
|
rs372135475
|
|
|
NM_004006.3(DMD):c.1306del (p.Arg435_Val436insTer)
|
rs398123854
|
|
|
NM_004006.3(DMD):c.130dup (p.Leu44fs)
|
|
|
|
NM_004006.3(DMD):c.1310C>G (p.Ala437Gly)
|
rs1556875180
|
|
|
NM_004006.3(DMD):c.1318G>T (p.Glu440Ter)
|
|
|
|
NM_004006.3(DMD):c.131dup (p.Gln45fs)
|
rs2080984178
|
|
|
NM_004006.3(DMD):c.1323dup (p.Gln442fs)
|
rs1602459252
|
|
|
NM_004006.3(DMD):c.1324C>T (p.Gln442Ter)
|
rs863224979
|
|
|
NM_004006.3(DMD):c.1329C>T (p.Ser443=)
|
rs1060502631
|
|
|
NM_004006.3(DMD):c.1331+1G>A
|
rs863224980
|
|
|
NM_004006.3(DMD):c.1332-9A>G
|
rs72468700
|
|
|
NM_004006.3(DMD):c.1339A>T (p.Arg447Ter)
|
rs2149350435
|
|
|
NM_004006.3(DMD):c.1341_1342del (p.Arg447fs)
|
rs398123856
|
|
|
NM_004006.3(DMD):c.1341_1342dup (p.Val448fs)
|
rs398123856
|
|
|
NM_004006.3(DMD):c.1346dup (p.Leu449fs)
|
rs2149350391
|
|
|
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)
|
rs1602169535
|
|
|
NM_004006.3(DMD):c.1357C>T (p.Gln453Ter)
|
rs2057404615
|
|
|
NM_004006.3(DMD):c.1366A>T (p.Lys456Ter)
|
rs1556853298
|
|
|
NM_004006.3(DMD):c.1375G>T (p.Glu459Ter)
|
rs2149350253
|
|
|
NM_004006.3(DMD):c.1383dup (p.Asp462Ter)
|
rs2149350194
|
|
|
NM_004006.3(DMD):c.1385_1388del (p.Asp462fs)
|
rs2149350164
|
|
|
NM_004006.3(DMD):c.1388G>A (p.Trp463Ter)
|
rs863224981
|
|
|
NM_004006.3(DMD):c.1389G>A (p.Trp463Ter)
|
rs2149350132
|
|
|
NM_004006.3(DMD):c.1402_1406del (p.Glu468fs)
|
rs2149350038
|
|
|
NM_004006.3(DMD):c.1417A>T (p.Lys473Ter)
|
rs886042499
|
|
|
NM_004006.3(DMD):c.141dup (p.Arg48fs)
|
rs1569533965
|
|
|
NM_004006.3(DMD):c.1429G>T (p.Glu477Ter)
|
rs1357942538
|
|
|
NM_004006.3(DMD):c.142dup (p.Arg48fs)
|
rs2149015246
|
|
|
NM_004006.3(DMD):c.1433del (p.Pro478fs)
|
rs2149349862
|
|
|
NM_004006.3(DMD):c.1438G>T (p.Gly480Ter)
|
rs128626240
|
|
|
NM_004006.3(DMD):c.1467_1470del (p.Gln489fs)
|
|
|
|
NM_004006.3(DMD):c.1474C>T (p.Gln492Ter)
|
rs2149349537
|
|
|
NM_004006.3(DMD):c.1476del (p.Gln492fs)
|
rs1556853039
|
|
|
NM_004006.3(DMD):c.1480A>T (p.Lys494Ter)
|
rs1234153462
|
|
|
NM_004006.3(DMD):c.1482+1G>T
|
rs398123862
|
|
|
NM_004006.3(DMD):c.1482+1del
|
rs2149349423
|
|
|
NM_004006.3(DMD):c.1483-1G>C
|
rs863224982
|
|
|
NM_004006.3(DMD):c.1483-1G>T
|
rs863224982
|
|
|
NM_004006.3(DMD):c.1489C>T (p.Gln497Ter)
|
rs128626241
|
|
|
NM_004006.3(DMD):c.14_15delinsT (p.Glu5fs)
|
rs796065325
|
|
|
NM_004006.3(DMD):c.1501G>T (p.Glu501Ter)
|
rs2055461260
|
|
|
NM_004006.3(DMD):c.1504C>T (p.Gln502Ter)
|
rs878854618
|
|
|
NM_004006.3(DMD):c.1510C>T (p.Gln504Ter)
|
rs2149265022
|
|
|
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs)
|
rs398123863
|
|
|
NM_004006.3(DMD):c.153dup (p.Asp52fs)
|
rs1557084128
|
|
|
NM_004006.3(DMD):c.1564G>T (p.Gly522Ter)
|
rs778171516
|
|
|
NM_004006.3(DMD):c.1577del (p.Thr526fs)
|
rs1569273905
|
|
|
NM_004006.3(DMD):c.1591G>T (p.Glu531Ter)
|
rs2149264484
|
|
|
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)
|
rs763936813
|
|
|
NM_004006.3(DMD):c.1602+1G>T
|
rs1057517960
|
|
|
NM_004006.3(DMD):c.1602+2T>A
|
rs2149264374
|
|
|
NM_004006.3(DMD):c.1602G>A (p.Lys534=)
|
rs1556834513
|
|
|
NM_004006.3(DMD):c.1602G>T (p.Lys534Asn)
|
rs1556834513
|
|
|
NM_004006.3(DMD):c.1603-1G>T
|
|
|
|
NM_004006.3(DMD):c.1603-2A>G
|
rs773779441
|
|
|
NM_004006.3(DMD):c.1603-2A>T
|
rs773779441
|
|
|
NM_004006.3(DMD):c.1614_1615delinsGT (p.Asp538_Arg539delinsGluTer)
|
|
|
|
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter)
|
rs398123865
|
|
|
NM_004006.3(DMD):c.1619G>A (p.Trp540Ter)
|
rs1569230406
|
|
|
NM_004006.3(DMD):c.161T>G (p.Leu54Arg)
|
rs128626231
|
|
|
NM_004006.3(DMD):c.1637G>A (p.Trp546Ter)
|
rs1057518962
|
|
|
NM_004006.3(DMD):c.1638G>A (p.Trp546Ter)
|
rs1569230293
|
|
|
NM_004006.3(DMD):c.163G>T (p.Glu55Ter)
|
rs1603448406
|
|
|
NM_004006.3(DMD):c.1644del (p.Asp549fs)
|
|
|
|
NM_004006.3(DMD):c.1652G>A (p.Trp551Ter)
|
rs1569230215
|
|
|
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)
|
rs1060502629
|
|
|
NM_004006.3(DMD):c.1663C>T (p.Gln555Ter)
|
rs863224983
|
|
|
NM_004006.3(DMD):c.1664_1667dup (p.Asp556fs)
|
rs1601810667
|
|
|
NM_004006.3(DMD):c.1683G>A (p.Trp561Ter)
|
rs863224984
|
|
|
NM_004006.3(DMD):c.1696G>T (p.Glu566Ter)
|
rs2149138125
|
|
|
NM_004006.3(DMD):c.1703del (p.Gln568fs)
|
rs2052700227
|
|
|
NM_004006.3(DMD):c.1704+1G>A
|
rs794727123
|
|
|
NM_004006.3(DMD):c.1704+1G>T
|
rs794727123
|
|
|
NM_004006.3(DMD):c.1705-1G>T
|
rs878854619
|
|
|
NM_004006.3(DMD):c.1705-2A>G
|
rs1601809011
|
|
|
NM_004006.3(DMD):c.1708del (p.Leu570fs)
|
rs2149137188
|
|
|
NM_004006.3(DMD):c.1721G>A (p.Trp574Ter)
|
rs2149137069
|
|
|
NM_004006.3(DMD):c.1726del (p.Ser576fs)
|
|
|
|
NM_004006.3(DMD):c.1734dup (p.Glu579fs)
|
rs398123866
|
|
|
NM_004006.3(DMD):c.1750A>T (p.Lys584Ter)
|
rs1601808608
|
|
|
NM_004006.3(DMD):c.1777C>T (p.Gln593Ter)
|
rs1601808326
|
|
|
NM_004006.3(DMD):c.1783G>T (p.Glu595Ter)
|
rs2149136473
|
|
|
NM_004006.3(DMD):c.1788del (p.Met596fs)
|
rs1601808296
|
|
|
NM_004006.3(DMD):c.178C>T (p.Gln60Ter)
|
rs128626233
|
|
|
NM_004006.3(DMD):c.178del (p.Gln60fs)
|
rs2080979223
|
|
|
NM_004006.3(DMD):c.1791dup (p.Ser598fs)
|
rs1601808288
|
|
|
NM_004006.3(DMD):c.1795del (p.Ser599fs)
|
rs1556809704
|
|
|
NM_004006.3(DMD):c.1812+1G>T
|
|
|
|
NM_004006.3(DMD):c.1837A>T (p.Lys613Ter)
|
rs1302764635
|
|
|
NM_004006.3(DMD):c.183dup (p.Leu62fs)
|
rs2080978755
|
|
|
NM_004006.3(DMD):c.1843C>T (p.Gln615Ter)
|
rs2149095456
|
|
|
NM_004006.3(DMD):c.1855A>T (p.Lys619Ter)
|
rs2051636517
|
|
|
NM_004006.3(DMD):c.186+1G>A
|
rs1557084067
|
|
|
NM_004006.3(DMD):c.1863T>G (p.Tyr621Ter)
|
rs2149095319
|
|
|
NM_004006.3(DMD):c.1865C>A (p.Ser622Ter)
|
rs886041344
|
|
|
NM_004006.3(DMD):c.1865C>G (p.Ser622Ter)
|
rs886041344
|
|
|
NM_004006.3(DMD):c.187-1G>T
|
rs1603447081
|
|
|
NM_004006.3(DMD):c.187-2A>G
|
rs2080514041
|
|
|
NM_004006.3(DMD):c.1873C>T (p.Gln625Ter)
|
rs2051634469
|
|
|
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter)
|
rs1603636541
|
|
|
NM_004006.3(DMD):c.1941dup (p.Ala648fs)
|
rs2149094788
|
|
|
NM_004006.3(DMD):c.1952G>A (p.Trp651Ter)
|
rs128626242
|
|
|
NM_004006.3(DMD):c.1961T>A (p.Leu654Ter)
|
rs1057518312
|
|
|
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter)
|
rs1603636537
|
|
|
NM_004006.3(DMD):c.1975G>T (p.Glu659Ter)
|
|
|
|
NM_004006.3(DMD):c.1979del (p.Lys660fs)
|
rs1569213903
|
|
|
NM_004006.3(DMD):c.1979dup (p.Ser661fs)
|
|
|
|
NM_004006.3(DMD):c.1983dup (p.Thr662fs)
|
rs2149094471
|
|
|
NM_004006.3(DMD):c.198dup (p.Gly67fs)
|
rs2148984775
|
|
|
NM_004006.3(DMD):c.1990C>T (p.Gln664Ter)
|
rs398123870
|
|
|
NM_004006.3(DMD):c.1992+1G>T
|
rs1556802319
|
|
|
NM_004006.3(DMD):c.19del (p.Glu6_Val7insTer)
|
rs1557300135
|
|
|
NM_004006.3(DMD):c.2017C>T (p.Gln673Ter)
|
rs128626232
|
|
|
NM_004006.3(DMD):c.2017_2027del (p.Gln673fs)
|
rs2148960326
|
|
|
NM_004006.3(DMD):c.2032C>T (p.Gln678Ter)
|
rs398123872
|
|
|
NM_004006.3(DMD):c.2032_2033del (p.Gln678fs)
|
rs398123873
|
|
|
NM_004006.3(DMD):c.2050del (p.Thr684fs)
|
|
|
|
NM_004006.3(DMD):c.2052_2053del (p.Val685fs)
|
rs886043699
|
|
|
NM_004006.3(DMD):c.205del (p.Thr69fs)
|
|
|
|
NM_004006.3(DMD):c.2060del (p.Thr687fs)
|
|
|
|
NM_004006.3(DMD):c.2064dup (p.Thr689fs)
|
rs1603635953
|
|
|
NM_004006.3(DMD):c.2074_2086del (p.Arg691_Glu692insTer)
|
rs2148959744
|
|
|
NM_004006.3(DMD):c.2076dup (p.Gln693fs)
|
rs1060502635
|
|
|
NM_004006.3(DMD):c.2077C>T (p.Gln693Ter)
|
rs1060502661
|
|
|
NM_004006.3(DMD):c.208A>T (p.Arg70Ter)
|
rs2080510348
|
|
|
NM_004006.3(DMD):c.2101del (p.Glu701fs)
|
rs1603635950
|
|
|
NM_004006.3(DMD):c.2114del (p.Pro705fs)
|
rs1603635949
|
|
|
NM_004006.3(DMD):c.2125C>T (p.Gln709Ter)
|
rs2148959323
|
|
|
NM_004006.3(DMD):c.2129del (p.Lys710fs)
|
rs1569169560
|
|
|
NM_004006.3(DMD):c.2132del (p.Lys711fs)
|
rs1556780579
|
|
|
NM_004006.3(DMD):c.2168+1G>A
|
rs1057518207
|
|
|
NM_004006.3(DMD):c.2168+2T>C
|
|
|
|
NM_004006.3(DMD):c.2169-1G>A
|
rs1603635331
|
|
|
NM_004006.3(DMD):c.2169-2A>T
|
rs2148805010
|
|
|
NM_004006.3(DMD):c.2187_2188del (p.Glu730fs)
|
|
|
|
NM_004006.3(DMD):c.2195del (p.His732fs)
|
|
|
|
NM_004006.3(DMD):c.2195dup (p.His732fs)
|
rs1569565192
|
|
|
NM_004006.3(DMD):c.2201G>A (p.Trp734Ter)
|
|
|
|
NM_004006.3(DMD):c.2202G>A (p.Trp734Ter)
|
rs1060502636
|
|
|
NM_004006.3(DMD):c.2215G>T (p.Glu739Ter)
|
rs863224985
|
|
|
NM_004006.3(DMD):c.2215_2216del (p.Glu739fs)
|
rs2148804513
|
|
|
NM_004006.3(DMD):c.2227C>T (p.Gln743Ter)
|
rs2046036327
|
|
|
NM_004006.3(DMD):c.2253del (p.Lys752fs)
|
rs2046034052
|
|
|
NM_004006.3(DMD):c.2276T>A (p.Leu759Ter)
|
rs1060502627
|
|
|
NM_004006.3(DMD):c.2276T>G (p.Leu759Ter)
|
rs1060502627
|
|
|
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs)
|
rs398123881
|
|
|
NM_004006.3(DMD):c.2284A>T (p.Lys762Ter)
|
|
|
|
NM_004006.3(DMD):c.2287_2292+12del
|
rs1603635326
|
|
|
NM_004006.3(DMD):c.2292+2T>C
|
rs1557396600
|
|
|
NM_004006.3(DMD):c.2293-2_2294del
|
rs2148691727
|
|
|
NM_004006.3(DMD):c.2294_2297del (p.Ala765fs)
|
rs398123882
|
|
|
NM_004006.3(DMD):c.2299G>T (p.Glu767Ter)
|
rs2148691615
|
|
|
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter)
|
rs201366610
|
|
|
NM_004006.3(DMD):c.2305G>T (p.Glu769Ter)
|
rs2148691516
|
|
|
NM_004006.3(DMD):c.2308A>T (p.Lys770Ter)
|
rs128626243
|
|
|
NM_004006.3(DMD):c.2314G>T (p.Glu772Ter)
|
rs267606770
|
|
|
NM_004006.3(DMD):c.2317A>G (p.Lys773Glu)
|
rs128626244
|
|
|
NM_004006.3(DMD):c.2317A>T (p.Lys773Ter)
|
rs128626244
|
|
|
NM_004006.3(DMD):c.2327_2378del (p.Lys776fs)
|
rs2148690745
|
|
|
NM_004006.3(DMD):c.2332C>T (p.Gln778Ter)
|
rs398123883
|
|
|
NM_004006.3(DMD):c.2348C>G (p.Ser783Ter)
|
rs2044079791
|
|
|
NM_004006.3(DMD):c.2353C>T (p.Gln785Ter)
|
rs2148691015
|
|
|
NM_004006.3(DMD):c.2359del (p.Leu787fs)
|
rs2148690952
|
|
|
NM_004006.3(DMD):c.2365G>T (p.Glu789Ter)
|
rs763844939
|
|
|
NM_004006.3(DMD):c.2368C>T (p.Gln790Ter)
|
rs762860653
|
|
|
NM_004006.3(DMD):c.2380+1G>A
|
rs398123884
|
|
|
NM_004006.3(DMD):c.2380+1G>C
|
rs398123884
|
|
|
NM_004006.3(DMD):c.2380+3A>C
|
rs1569564916
|
|
|
NM_004006.3(DMD):c.2380G>T (p.Glu794Ter)
|
rs398123886
|
|
|
NM_004006.3(DMD):c.2381-1G>A
|
|
|
|
NM_004006.3(DMD):c.238dup (p.Ala80fs)
|
rs1557079469
|
|
|
NM_004006.3(DMD):c.2407C>T (p.Gln803Ter)
|
rs863224986
|
|
|
NM_004006.3(DMD):c.2407del (p.Gln803fs)
|
rs1603634748
|
|
|
NM_004006.3(DMD):c.2415_2422del (p.Leu808fs)
|
rs2148632453
|
|
|
NM_004006.3(DMD):c.2419C>T (p.Gln807Ter)
|
rs398123888
|
|
|
NM_004006.3(DMD):c.2436G>A (p.Trp812Ter)
|
rs398123889
|
|
|
NM_004006.3(DMD):c.2439del (p.Ile813fs)
|
rs2042990064
|
|
|
NM_004006.3(DMD):c.2440G>T (p.Glu814Ter)
|
rs1408435603
|
|
|
NM_004006.3(DMD):c.2442del (p.Glu814fs)
|
rs1603634747
|
|
|
NM_004006.3(DMD):c.2448C>A (p.Cys816Ter)
|
rs1603634746
|
|
|
NM_004006.3(DMD):c.2461G>T (p.Glu821Ter)
|
rs1603634745
|
|
|
NM_004006.3(DMD):c.2463_2466del (p.Glu821fs)
|
rs1603634744
|
|
|
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs)
|
rs1603634744
|
|
|
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)
|
rs753662330
|
|
|
NM_004006.3(DMD):c.2499del (p.Ile833fs)
|
rs2148631657
|
|
|
NM_004006.3(DMD):c.2508_2509dup (p.Asn837fs)
|
rs2148631503
|
|
|
NM_004006.3(DMD):c.2508dup (p.Asn837Ter)
|
rs2042983140
|
|
|
NM_004006.3(DMD):c.2518C>T (p.Gln840Ter)
|
rs398123892
|
|
|
NM_004006.3(DMD):c.251del (p.Leu84fs)
|
rs398123893
|
|
|
NM_004006.3(DMD):c.2521C>T (p.Gln841Ter)
|
rs2148631382
|
|
|
NM_004006.3(DMD):c.2530C>T (p.Gln844Ter)
|
rs768892830
|
|
|
NM_004006.3(DMD):c.2539dup (p.Thr847fs)
|
|
|
|
NM_004006.3(DMD):c.253C>T (p.Gln85Ter)
|
rs128626234
|
|
|
NM_004006.3(DMD):c.2546del (p.Ala849fs)
|
rs2042979418
|
|
|
NM_004006.3(DMD):c.2555G>A (p.Trp852Ter)
|
rs1064793964
|
|
|
NM_004006.3(DMD):c.2556G>A (p.Trp852Ter)
|
rs1429329309
|
|
|
NM_004006.3(DMD):c.2563dup (p.Ile855fs)
|
|
|
|
NM_004006.3(DMD):c.2572_2578del (p.Thr858fs)
|
rs1603634742
|
|
|
NM_004006.3(DMD):c.2584G>T (p.Glu862Ter)
|
rs2042975774
|
|
|
NM_004006.3(DMD):c.2601_2602dup (p.Ser868fs)
|
rs794727322
|
|
|
NM_004006.3(DMD):c.2605C>T (p.Gln869Ter)
|
rs2148630465
|
|
|
NM_004006.3(DMD):c.2609dup (p.Leu870fs)
|
|
|
|
NM_004006.3(DMD):c.260dup (p.Asn87fs)
|
rs2148984299
|
|
|
NM_004006.3(DMD):c.2611A>T (p.Lys871Ter)
|
rs863224987
|
|
|
NM_004006.3(DMD):c.2614dup (p.Ile872fs)
|
rs2148630350
|
|
|
NM_004006.3(DMD):c.2617dup (p.Cys873fs)
|
rs2042972321
|
|
|
NM_004006.3(DMD):c.261_264+3del
|
rs2148984206
|
|
|
NM_004006.3(DMD):c.2622+1G>A
|
rs398123901
|
|
|
NM_004006.3(DMD):c.2622+1G>T
|
rs398123901
|
|
|
NM_004006.3(DMD):c.2623-2A>G
|
rs2148584710
|
|
|
NM_004006.3(DMD):c.2623-3C>G
|
rs863224988
|
|
|
NM_004006.3(DMD):c.2638del (p.Leu880fs)
|
rs1557380685
|
|
|
NM_004006.3(DMD):c.263_264dup (p.Val89fs)
|
rs1603447057
|
|
|
NM_004006.3(DMD):c.264+1G>A
|
rs1569533147
|
|
|
NM_004006.3(DMD):c.264+5G>A
|
rs398123902
|
|
|
NM_004006.3(DMD):c.2642C>A (p.Ser881Ter)
|
rs747937552
|
|
|
NM_004006.3(DMD):c.265-1G>A
|
rs2148850769
|
|
|
NM_004006.3(DMD):c.265-2A>G
|
rs863224989
|
|
|
NM_004006.3(DMD):c.265-463A>G
|
rs1603441629
|
|
|
NM_004006.3(DMD):c.2650C>T (p.Gln884Ter)
|
rs398123903
|
|
|
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)
|
rs1060502639
|
|
|
NM_004006.3(DMD):c.2669T>A (p.Leu890Ter)
|
rs1557380616
|
|
|
NM_004006.3(DMD):c.2669T>G (p.Leu890Ter)
|
rs1557380616
|
|
|
NM_004006.3(DMD):c.2695G>T (p.Glu899Ter)
|
rs2148583804
|
|
|
NM_004006.3(DMD):c.2704C>T (p.Gln902Ter)
|
rs1603634608
|
|
|
NM_004006.3(DMD):c.2708del (p.Gly903fs)
|
rs1603634607
|
|
|
NM_004006.3(DMD):c.2719_2720insA (p.Leu907fs)
|
rs2148583439
|
|
|
NM_004006.3(DMD):c.2733dup (p.Val912fs)
|
rs1557380496
|
|
|
NM_004006.3(DMD):c.2755A>T (p.Lys919Ter)
|
rs727503850
|
|
|
NM_004006.3(DMD):c.2758C>T (p.Gln920Ter)
|
rs398123905
|
|
|
NM_004006.3(DMD):c.2760_2761del (p.Gln920fs)
|
rs2148582964
|
|
|
NM_004006.3(DMD):c.2768del (p.Ser923fs)
|
|
|
|
NM_004006.3(DMD):c.2774_2775del (p.Val925fs)
|
rs2148582821
|
|
|
NM_004006.3(DMD):c.2776C>T (p.Gln926Ter)
|
rs1055371114
|
|
|
NM_004006.3(DMD):c.2787_2788del (p.Lys930fs)
|
|
|
|
NM_004006.3(DMD):c.2791G>T (p.Glu931Ter)
|
rs128625227
|
|
|
NM_004006.3(DMD):c.2792_2793del (p.Glu931fs)
|
rs1603634604
|
|
|
NM_004006.3(DMD):c.2797C>T (p.Gln933Ter)
|
rs756949497
|
|
|
NM_004006.3(DMD):c.2803+5_2803+8del
|
rs2148582421
|
|
|
NM_004006.3(DMD):c.2804-1G>A
|
rs398123909
|
|
|
NM_004006.3(DMD):c.2804-1G>C
|
rs398123909
|
|
|
NM_004006.3(DMD):c.2804-1G>T
|
rs398123909
|
|
|
NM_004006.3(DMD):c.2804-1del
|
rs1557374667
|
|
|
NM_004006.3(DMD):c.2804-2A>C
|
rs794727357
|
|
|
NM_004006.3(DMD):c.2804-2A>T
|
rs794727357
|
|
|
NM_004006.3(DMD):c.280del (p.Ile94fs)
|
rs863224990
|
|
|
NM_004006.3(DMD):c.282dup (p.Gly95fs)
|
rs863224991
|
|
|
NM_004006.3(DMD):c.2833del (p.Gln945fs)
|
|
|
|
NM_004006.3(DMD):c.2833dup (p.Gln945fs)
|
rs2148485744
|
|
|
NM_004006.3(DMD):c.283G>T (p.Gly95Ter)
|
rs1557058415
|
|
|
NM_004006.3(DMD):c.2853del (p.Arg952fs)
|
rs1603634299
|
|
|
NM_004006.3(DMD):c.2866C>T (p.Gln956Ter)
|
rs398123912
|
|
|
NM_004006.3(DMD):c.2869C>T (p.Gln957Ter)
|
rs1603634298
|
|
|
NM_004006.3(DMD):c.286del (p.Ser96fs)
|
rs2148850505
|
|
|
NM_004006.3(DMD):c.2873C>G (p.Ser958Ter)
|
rs2148485357
|
|
|
NM_004006.3(DMD):c.2902_2903insAA (p.Ser968fs)
|
rs2148485071
|
|
|
NM_004006.3(DMD):c.2914del (p.Tyr972fs)
|
rs1569564281
|
|
|
NM_004006.3(DMD):c.2917G>T (p.Glu973Ter)
|
rs2148484887
|
|
|
NM_004006.3(DMD):c.2926G>T (p.Glu976Ter)
|
rs767387334
|
|
|
NM_004006.3(DMD):c.2941del (p.Glu981fs)
|
|
|
|
NM_004006.3(DMD):c.2945T>A (p.Leu982Ter)
|
rs2040710629
|
|
|
NM_004006.3(DMD):c.2949+1G>A
|
rs1557374482
|
|
|
NM_004006.3(DMD):c.2949+1G>T
|
rs1557374482
|
|
|
NM_004006.3(DMD):c.2949+2T>C
|
rs2040709857
|
|
|
NM_004006.3(DMD):c.294_306del (p.Asp98fs)
|
rs1603441550
|
|
|
NM_004006.3(DMD):c.2950-1G>T
|
rs2148460867
|
|
|
NM_004006.3(DMD):c.2950-2A>G
|
rs398123915
|
|
|
NM_004006.3(DMD):c.2959del (p.Ser987fs)
|
|
|
|
NM_004006.3(DMD):c.2960del (p.Ser987fs)
|
rs1603634207
|
|
|
NM_004006.3(DMD):c.2968C>T (p.Gln990Ter)
|
rs1233380601
|
|
|
NM_004006.3(DMD):c.2971G>T (p.Glu991Ter)
|
rs72468667
|
|
|
NM_004006.3(DMD):c.2974C>T (p.Gln992Ter)
|
rs2148460570
|
|
|
NM_004006.3(DMD):c.2991C>G (p.Tyr997Ter)
|
rs863224992
|
|
|
NM_004006.3(DMD):c.2994T>A (p.Tyr998Ter)
|
rs1472308773
|
|
|
NM_004006.3(DMD):c.29_30del (p.Cys10fs)
|
rs2051898232
|
|
|
NM_004006.3(DMD):c.29del (p.Cys10fs)
|
rs1603419076
|
|
|
NM_004006.3(DMD):c.3008_3009del (p.Val1003fs)
|
rs2040303197
|
|
|
NM_004006.3(DMD):c.3010A>T (p.Lys1004Ter)
|
rs2148460313
|
|
|
NM_004006.3(DMD):c.3013G>T (p.Glu1005Ter)
|
rs1603634206
|
|
|
NM_004006.3(DMD):c.3020C>A (p.Ser1007Ter)
|
rs144732570
|
|
|
NM_004006.3(DMD):c.3042_3052del (p.Arg1016fs)
|
|
|
|
NM_004006.3(DMD):c.3059C>G (p.Ser1020Ter)
|
rs398123919
|
|
|
NM_004006.3(DMD):c.3076G>T (p.Glu1026Ter)
|
rs398123920
|
|
|
NM_004006.3(DMD):c.3088A>T (p.Lys1030Ter)
|
rs2148459492
|
|
|
NM_004006.3(DMD):c.30T>A (p.Cys10Ter)
|
|
|
|
NM_004006.3(DMD):c.31+1G>A
|
rs398123923
|
|
|
NM_004006.3(DMD):c.31+1G>C
|
rs398123923
|
|
|
NM_004006.3(DMD):c.31+1G>T
|
rs398123923
|
|
|
NM_004006.3(DMD):c.31+1del
|
rs1603419074
|
|
|
NM_004006.3(DMD):c.31+36947G>A
|
rs886042106
|
|
|
NM_004006.3(DMD):c.31+5G>A
|
rs1403865104
|
|
|
NM_004006.3(DMD):c.3103C>T (p.Gln1035Ter)
|
rs753006232
|
|
|
NM_004006.3(DMD):c.3110_3111del (p.Val1037fs)
|
rs1603634203
|
|
|
NM_004006.3(DMD):c.3121C>T (p.Gln1041Ter)
|
rs128626245
|
|
|
NM_004006.3(DMD):c.3136C>T (p.Gln1046Ter)
|
rs2148459016
|
|
|
NM_004006.3(DMD):c.3143_3149del (p.Asn1048fs)
|
rs2148458912
|
|
|
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)
|
rs398123929
|
|
|
NM_004006.3(DMD):c.3157dup (p.Ile1053fs)
|
rs1603634199
|
|
|
NM_004006.3(DMD):c.3160C>T (p.Gln1054Ter)
|
|
|
|
NM_004006.3(DMD):c.3162+1G>A
|
rs1335666832
|
|
|
NM_004006.3(DMD):c.3184A>T (p.Lys1062Ter)
|
|
|
|
NM_004006.3(DMD):c.3186del (p.Lys1062fs)
|
rs2148428193
|
|
|
NM_004006.3(DMD):c.3188G>A (p.Trp1063Ter)
|
rs128626246
|
|
|
NM_004006.3(DMD):c.3189G>A (p.Trp1063Ter)
|
rs2148428124
|
|
|
NM_004006.3(DMD):c.3193_3209dup (p.Phe1070fs)
|
|
|
|
NM_004006.3(DMD):c.3193del (p.Ala1065fs)
|
rs1603634105
|
|
|
NM_004006.3(DMD):c.3213del (p.Lys1072fs)
|
rs2148427870
|
|
|
NM_004006.3(DMD):c.321dup (p.Leu108fs)
|
rs2078432433
|
|
|
NM_004006.3(DMD):c.3220G>T (p.Glu1074Ter)
|
rs1569563751
|
|
|
NM_004006.3(DMD):c.3225G>A (p.Trp1075Ter)
|
|
|
|
NM_004006.3(DMD):c.3251dup (p.Gln1087fs)
|
|
|
|
NM_004006.3(DMD):c.3256A>T (p.Lys1086Ter)
|
rs745585519
|
|
|
NM_004006.3(DMD):c.3256_3257del (p.Lys1086fs)
|
|
|
|
NM_004006.3(DMD):c.3257del (p.Lys1086fs)
|
rs1569563740
|
|
|
NM_004006.3(DMD):c.3257dup (p.Gln1087fs)
|
rs1569563740
|
|
|
NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter)
|
rs886039536
|
|
|
NM_004006.3(DMD):c.3268C>T (p.Gln1090Ter)
|
rs1557369991
|
|
|
NM_004006.3(DMD):c.3274A>T (p.Arg1092Ter)
|
rs2148427138
|
|
|
NM_004006.3(DMD):c.3277-1G>A
|
|
|
|
NM_004006.3(DMD):c.3277-1G>C
|
rs2148419974
|
|
|
NM_004006.3(DMD):c.3277-2A>G
|
|
|
|
NM_004006.3(DMD):c.3277-2A>T
|
rs2098391032
|
|
|
NM_004006.3(DMD):c.3281del (p.Leu1093_Leu1094insTer)
|
rs2148419938
|
|
|
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter)
|
rs398123935
|
|
|
NM_004006.3(DMD):c.3295_3296del (p.Gln1099fs)
|
rs1603634079
|
|
|
NM_004006.3(DMD):c.3304C>T (p.Gln1102Ter)
|
rs2148419679
|
|
|
NM_004006.3(DMD):c.3305_3308dup (p.Ser1104fs)
|
|
|
|
NM_004006.3(DMD):c.3309_3313del (p.Ser1104fs)
|
rs1557369493
|
|
|
NM_004006.3(DMD):c.3324del (p.Asn1109fs)
|
|
|
|
NM_004006.3(DMD):c.3326_3338del (p.Asn1109fs)
|
|
|
|
NM_004006.3(DMD):c.3347del (p.Lys1116fs)
|
rs2098390819
|
|
|
NM_004006.3(DMD):c.334dup (p.Trp112fs)
|
|
|
|
NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter)
|
rs1569563678
|
|
|
NM_004006.3(DMD):c.3365_3366del (p.Glu1122fs)
|
rs1057518284
|
|
|
NM_004006.3(DMD):c.3374C>A (p.Ser1125Ter)
|
rs374744331
|
|
|
NM_004006.3(DMD):c.3388_3389dup (p.Leu1131fs)
|
rs1557369413
|
|
|
NM_004006.3(DMD):c.3413G>A (p.Trp1138Ter)
|
rs886044406
|
|
|
NM_004006.3(DMD):c.3426C>A (p.Cys1142Ter)
|
rs2148418171
|
|
|
NM_004006.3(DMD):c.3427C>T (p.Gln1143Ter)
|
rs863224993
|
|
|
NM_004006.3(DMD):c.3432+1G>A
|
rs398123937
|
|
|
NM_004006.3(DMD):c.3432+2036A>G
|
rs182575709
|
|
|
NM_004006.3(DMD):c.3432+3A>G
|
rs398123938
|
|
|
NM_004006.3(DMD):c.3433-1G>C
|
|
|
|
NM_004006.3(DMD):c.3433-5_3434del
|
rs863224994
|
|
|
NM_004006.3(DMD):c.3438del (p.Val1145_Tyr1146insTer)
|
rs2148349819
|
|
|
NM_004006.3(DMD):c.3457A>T (p.Lys1153Ter)
|
rs2098349366
|
|
|
NM_004006.3(DMD):c.3460G>T (p.Gly1154Ter)
|
rs1603633868
|
|
|
NM_004006.3(DMD):c.3469G>T (p.Glu1157Ter)
|
rs128625226
|
|
|
NM_004006.3(DMD):c.3490A>T (p.Lys1164Ter)
|
rs2098349160
|
|
|
NM_004006.3(DMD):c.34_38del (p.Glu12fs)
|
rs1602766725
|
|
|
NM_004006.3(DMD):c.3511G>T (p.Glu1171Ter)
|
rs1263708289
|
|
|
NM_004006.3(DMD):c.3515_3519dup (p.Thr1174delinsGlyTer)
|
rs2148348931
|
|
|
NM_004006.3(DMD):c.3516G>A (p.Trp1172Ter)
|
rs865974846
|
|
|
NM_004006.3(DMD):c.3523C>T (p.Gln1175Ter)
|
|
|
|
NM_004006.3(DMD):c.3533_3536del (p.Glu1178fs)
|
rs1603633864
|
|
|
NM_004006.3(DMD):c.3544G>T (p.Glu1182Ter)
|
rs2148348645
|
|
|
NM_004006.3(DMD):c.354G>A (p.Trp118Ter)
|
rs2148849959
|
|
|
NM_004006.3(DMD):c.3556G>T (p.Glu1186Ter)
|
rs868836192
|
|
|
NM_004006.3(DMD):c.355C>T (p.Gln119Ter)
|
rs863224995
|
|
|
NM_004006.3(DMD):c.3562A>T (p.Lys1188Ter)
|
rs2148348451
|
|
|
NM_004006.3(DMD):c.3565del (p.Thr1189fs)
|
rs2148348431
|
|
|
NM_004006.3(DMD):c.356del (p.Gln119fs)
|
rs1557058308
|
|
|
NM_004006.3(DMD):c.358-1G>A
|
rs886044582
|
|
|
NM_004006.3(DMD):c.358-2A>G
|
rs863224996
|
|
|
NM_004006.3(DMD):c.3580C>T (p.Gln1194Ter)
|
rs398123942
|
|
|
NM_004006.3(DMD):c.3597_3601del (p.Met1200fs)
|
|
|
|
NM_004006.3(DMD):c.3603+1G>A
|
rs1209389771
|
|
|
NM_004006.3(DMD):c.3603+1G>T
|
rs1209389771
|
|
|
NM_004006.3(DMD):c.3603+2T>A
|
rs146071084
|
|
|
NM_004006.3(DMD):c.3603+2T>C
|
rs146071084
|
|
|
NM_004006.3(DMD):c.3603+2T>G
|
rs146071084
|
|
|
NM_004006.3(DMD):c.3603+2_3603+3insTA
|
rs1603633860
|
|
|
NM_004006.3(DMD):c.3603+2dup
|
rs796523999
|
|
|
NM_004006.3(DMD):c.3603+3A>T
|
rs1060502615
|
|
|
NM_004006.3(DMD):c.3604-1G>C
|
rs1569562952
|
|
|
NM_004006.3(DMD):c.3622C>T (p.Gln1208Ter)
|
rs2148289012
|
|
|
NM_004006.3(DMD):c.3630del (p.Glu1211fs)
|
rs2098315232
|
|
|
NM_004006.3(DMD):c.3631G>T (p.Glu1211Ter)
|
rs267606771
|
|
|
NM_004006.3(DMD):c.3637A>T (p.Lys1213Ter)
|
|
|
|
NM_004006.3(DMD):c.3639del (p.Lys1213_Val1214insTer)
|
rs398123943
|
|
|
NM_004006.3(DMD):c.3645dup (p.Leu1216fs)
|
rs2148288724
|
|
|
NM_004006.3(DMD):c.3656_3657del (p.Glu1219fs)
|
|
|
|
NM_004006.3(DMD):c.3679C>T (p.Gln1227Ter)
|
rs1569562941
|
|
|
NM_004006.3(DMD):c.3690dup (p.Val1231fs)
|
rs2148288214
|
|
|
NM_004006.3(DMD):c.3697C>T (p.Gln1233Ter)
|
rs1339088514
|
|
|
NM_004006.3(DMD):c.3699dup (p.Glu1234fs)
|
|
|
|
NM_004006.3(DMD):c.3713del (p.Lys1238fs)
|
rs1557362198
|
|
|
NM_004006.3(DMD):c.3715_3733del (p.Glu1239fs)
|
|
|
|
NM_004006.3(DMD):c.3727_3728del (p.Leu1243fs)
|
rs2148287711
|
|
|
NM_004006.3(DMD):c.372dup (p.Lys125fs)
|
|
|
|
NM_004006.3(DMD):c.3741C>A (p.Tyr1247Ter)
|
|
|
|
NM_004006.3(DMD):c.3742C>T (p.Gln1248Ter)
|
rs1569562936
|
|
|
NM_004006.3(DMD):c.3774C>A (p.Cys1258Ter)
|
rs1569562933
|
|
|
NM_004006.3(DMD):c.377del (p.Asn126fs)
|
rs1569528138
|
|
|
NM_004006.3(DMD):c.377dup (p.Asn126fs)
|
rs1569528138
|
|
|
NM_004006.3(DMD):c.3795G>A (p.Trp1265Ter)
|
rs1603633545
|
|
|
NM_004006.3(DMD):c.3817del (p.Ser1273fs)
|
rs1557359217
|
|
|
NM_004006.3(DMD):c.3838A>T (p.Lys1280Ter)
|
rs794727463
|
|
|
NM_004006.3(DMD):c.3843G>A (p.Trp1281Ter)
|
rs1603633541
|
|
|
NM_004006.3(DMD):c.3850G>T (p.Glu1284Ter)
|
rs1557359192
|
|
|
NM_004006.3(DMD):c.387dup (p.Gly130fs)
|
rs2148807654
|
|
|
NM_004006.3(DMD):c.388G>T (p.Gly130Ter)
|
rs2148807631
|
|
|
NM_004006.3(DMD):c.3917dup (p.Asp1307fs)
|
|
|
|
NM_004006.3(DMD):c.3921+1_3921+2dup
|
rs2098280263
|
|
|
NM_004006.3(DMD):c.3923C>A (p.Ser1308Ter)
|
rs1569562466
|
|
|
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)
|
rs5030730
|
|
|
NM_004006.3(DMD):c.394C>T (p.Gln132Ter)
|
rs2148807584
|
|
|
NM_004006.3(DMD):c.3969_3970insG (p.Arg1324fs)
|
rs2148194212
|
|
|
NM_004006.3(DMD):c.397C>T (p.Gln133Ter)
|
|
|
|
NM_004006.3(DMD):c.3980del (p.Ala1327fs)
|
rs1603633486
|
|
|
NM_004006.3(DMD):c.3982C>T (p.Gln1328Ter)
|
rs745640786
|
|
|
NM_004006.3(DMD):c.39del (p.Glu14fs)
|
rs1602766655
|
|
|
NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter)
|
rs146880270
|
|
|
NM_004006.3(DMD):c.400del (p.Thr134fs)
|
rs2148807456
|
|
|
NM_004006.3(DMD):c.402_408dup (p.Glu137delinsGlnGlnTer)
|
rs2077781516
|
|
|
NM_004006.3(DMD):c.402del (p.Asn135fs)
|
|
|
|
NM_004006.3(DMD):c.4033dup (p.Glu1345fs)
|
rs2148193545
|
|
|
NM_004006.3(DMD):c.4052_4053insCC (p.Trp1351fs)
|
rs2148193225
|
|
|
NM_004006.3(DMD):c.4057G>T (p.Glu1353Ter)
|
rs907237595
|
|
|
NM_004006.3(DMD):c.4060dup (p.Leu1354fs)
|
rs2148193045
|
|
|
NM_004006.3(DMD):c.4071+1G>A
|
rs1060502643
|
|
|
NM_004006.3(DMD):c.40_41del (p.Glu14fs)
|
rs1060502652
|
|
|
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter)
|
rs398123948
|
|
|
NM_004006.3(DMD):c.4147C>T (p.Gln1383Ter)
|
rs2147935442
|
|
|
NM_004006.3(DMD):c.4150G>T (p.Glu1384Ter)
|
rs2147935387
|
|
|
NM_004006.3(DMD):c.4171A>T (p.Lys1391Ter)
|
rs2147935042
|
|
|
NM_004006.3(DMD):c.4174C>T (p.Gln1392Ter)
|
rs886043496
|
|
|
NM_004006.3(DMD):c.418del (p.Leu140fs)
|
rs2148807197
|
|
|
NM_004006.3(DMD):c.4191dup (p.Ala1398fs)
|
|
|
|
NM_004006.3(DMD):c.4213C>T (p.Gln1405Ter)
|
rs128626247
|
|
|
NM_004006.3(DMD):c.4231C>T (p.Gln1411Ter)
|
rs1010666282
|
|
|
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter)
|
rs863224997
|
|
|
NM_004006.3(DMD):c.4271T>A (p.Leu1424Ter)
|
rs2097991272
|
|
|
NM_004006.3(DMD):c.4273G>T (p.Glu1425Ter)
|
rs2147621084
|
|
|
NM_004006.3(DMD):c.4290_4291del (p.His1430fs)
|
rs1557322838
|
|
|
NM_004006.3(DMD):c.4294C>T (p.Gln1432Ter)
|
rs1603632326
|
|
|
NM_004006.3(DMD):c.4295del (p.Gln1432fs)
|
rs1557322834
|
|
|
NM_004006.3(DMD):c.4299_4306dup (p.Ala1436fs)
|
rs2147620247
|
|
|
NM_004006.3(DMD):c.4306_4309del (p.Ala1436fs)
|
rs1603632324
|
|
|
NM_004006.3(DMD):c.430dup (p.Val144fs)
|
|
|
|
NM_004006.3(DMD):c.4314_4315del (p.Arg1439fs)
|
rs398123950
|
|
|
NM_004006.3(DMD):c.4315del (p.Arg1439fs)
|
rs398123950
|
|
|
NM_004006.3(DMD):c.4327C>T (p.Gln1443Ter)
|
rs1603632322
|
|
|
NM_004006.3(DMD):c.433C>T (p.Arg145Ter)
|
rs128626235
|
|
|
NM_004006.3(DMD):c.4345A>T (p.Lys1449Ter)
|
rs2147613866
|
|
|
NM_004006.3(DMD):c.434G>C (p.Arg145Pro)
|
rs398123952
|
|
|
NM_004006.3(DMD):c.4350dup (p.Leu1451fs)
|
rs772220893
|
|
|
NM_004006.3(DMD):c.4352T>G (p.Leu1451Ter)
|
rs1603632316
|
|
|
NM_004006.3(DMD):c.4354C>T (p.Gln1452Ter)
|
rs2147613652
|
|
|
NM_004006.3(DMD):c.4363dup (p.Ser1455fs)
|
|
|
|
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)
|
rs398123953
|
|
|
NM_004006.3(DMD):c.4384C>T (p.Gln1462Ter)
|
rs2147613231
|
|
|
NM_004006.3(DMD):c.4388_4394dup (p.Asn1466fs)
|
rs2147613101
|
|
|
NM_004006.3(DMD):c.4402G>T (p.Glu1468Ter)
|
rs2097986793
|
|
|
NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter)
|
rs398123954
|
|
|
NM_004006.3(DMD):c.4413_4416del (p.Gln1472fs)
|
rs2147612475
|
|
|
NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter)
|
rs128626248
|
|
|
NM_004006.3(DMD):c.4414del (p.Gln1472fs)
|
rs2147612526
|
|
|
NM_004006.3(DMD):c.4423A>T (p.Lys1475Ter)
|
rs1603632314
|
|
|
NM_004006.3(DMD):c.4433T>G (p.Leu1478Ter)
|
rs1603632312
|
|
|
NM_004006.3(DMD):c.4438G>T (p.Glu1480Ter)
|
rs1603632311
|
|
|
NM_004006.3(DMD):c.444del (p.Arg149fs)
|
rs1603437272
|
|
|
NM_004006.3(DMD):c.4471_4472del (p.Lys1491fs)
|
rs398123957
|
|
|
NM_004006.3(DMD):c.4474_4475del (p.Ser1492fs)
|
|
|
|
NM_004006.3(DMD):c.4477_4493del (p.Val1493fs)
|
rs1603632309
|
|
|
NM_004006.3(DMD):c.4483C>T (p.Gln1495Ter)
|
rs748769566
|
|
|
NM_004006.3(DMD):c.4486G>T (p.Glu1496Ter)
|
rs1569560739
|
|
|
NM_004006.3(DMD):c.4499C>A (p.Ser1500Ter)
|
rs2147610804
|
|
|
NM_004006.3(DMD):c.44del (p.Asp15fs)
|
rs2093886453
|
|
|
NM_004006.3(DMD):c.4501C>T (p.Gln1501Ter)
|
rs1557322201
|
|
|
NM_004006.3(DMD):c.4515T>A (p.Cys1505Ter)
|
rs2147610488
|
|
|
NM_004006.3(DMD):c.4518+2T>G
|
rs2147610382
|
|
|
NM_004006.3(DMD):c.4518+5G>A
|
rs398123960
|
|
|
NM_004006.3(DMD):c.4519-2A>C
|
rs2097958830
|
|
|
NM_004006.3(DMD):c.4519-2_4523del
|
|
|
|
NM_004006.3(DMD):c.4530_4531del (p.Leu1512fs)
|
|
|
|
NM_004006.3(DMD):c.4536_4540del (p.Val1515_Lys1516insTer)
|
rs1603632248
|
|
|
NM_004006.3(DMD):c.4538_4541del (p.Ser1513fs)
|
rs1064793479
|
|
|
NM_004006.3(DMD):c.453T>G (p.Tyr151Ter)
|
rs1603437254
|
|
|
NM_004006.3(DMD):c.4545_4549del (p.Val1515_Lys1516insTer)
|
rs398123962
|
|
|
NM_004006.3(DMD):c.4564del (p.Met1521_Val1522insTer)
|
|
|
|
NM_004006.3(DMD):c.4570_4573del (p.Lys1524fs)
|
|
|
|
NM_004006.3(DMD):c.457C>T (p.Gln153Ter)
|
rs886042983
|
|
|
NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter)
|
rs1557320194
|
|
|
NM_004006.3(DMD):c.4600C>T (p.Gln1534Ter)
|
rs2097958423
|
|
|
NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter)
|
rs863224998
|
|
|
NM_004006.3(DMD):c.4610dup (p.Asn1537fs)
|
rs1603632245
|
|
|
NM_004006.3(DMD):c.4618G>T (p.Glu1540Ter)
|
rs1557320151
|
|
|
NM_004006.3(DMD):c.4626_4627dup (p.Glu1543fs)
|
|
|
|
NM_004006.3(DMD):c.4627G>T (p.Glu1543Ter)
|
rs2147558029
|
|
|
NM_004006.3(DMD):c.4634dup (p.Thr1546fs)
|
rs398123963
|
|
|
NM_004006.3(DMD):c.4638dup (p.Ala1547fs)
|
|
|
|
NM_004006.3(DMD):c.4660G>T (p.Glu1554Ter)
|
rs1216000876
|
|
|
NM_004006.3(DMD):c.4675-1G>A
|
rs2097921115
|
|
|
NM_004006.3(DMD):c.4684A>T (p.Arg1562Ter)
|
rs771425504
|
|
|
NM_004006.3(DMD):c.4686_4689del (p.Arg1562fs)
|
rs1603632119
|
|
|
NM_004006.3(DMD):c.4693C>T (p.Gln1565Ter)
|
rs1603632117
|
|
|
NM_004006.3(DMD):c.4694del (p.Gln1565fs)
|
rs2147472734
|
|
|
NM_004006.3(DMD):c.4723A>T (p.Lys1575Ter)
|
rs2147472174
|
|
|
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)
|
rs863224999
|
|
|
NM_004006.3(DMD):c.4738_4742del (p.Met1580fs)
|
rs2147471723
|
|
|
NM_004006.3(DMD):c.4777G>T (p.Glu1593Ter)
|
rs2097920711
|
|
|
NM_004006.3(DMD):c.4781del (p.Glu1593_Leu1594insTer)
|
|
|
|
NM_004006.3(DMD):c.4786A>T (p.Lys1596Ter)
|
rs2147470742
|
|
|
NM_004006.3(DMD):c.4786_4787del (p.Lys1596fs)
|
rs1569560475
|
|
|
NM_004006.3(DMD):c.4793C>A (p.Ser1598Ter)
|
rs2147470500
|
|
|
NM_004006.3(DMD):c.4838G>A (p.Trp1613Ter)
|
rs1557315928
|
|
|
NM_004006.3(DMD):c.4840G>T (p.Gly1614Ter)
|
rs2097920506
|
|
|
NM_004006.3(DMD):c.4852C>T (p.Gln1618Ter)
|
rs1085307535
|
|
|
NM_004006.3(DMD):c.4858G>T (p.Glu1620Ter)
|
rs1060502645
|
|
|
NM_004006.3(DMD):c.4860_4861del (p.Glu1620fs)
|
rs1603631756
|
|
|
NM_004006.3(DMD):c.4864G>T (p.Glu1622Ter)
|
rs2147261270
|
|
|
NM_004006.3(DMD):c.4870C>T (p.Gln1624Ter)
|
rs762250680
|
|
|
NM_004006.3(DMD):c.4872_4873del (p.Lys1625fs)
|
rs2147261153
|
|
|
NM_004006.3(DMD):c.488G>A (p.Trp163Ter)
|
rs2077774135
|
|
|
NM_004006.3(DMD):c.4897G>T (p.Glu1633Ter)
|
rs370800101
|
|
|
NM_004006.3(DMD):c.489G>A (p.Trp163Ter)
|
rs398123970
|
|
|
NM_004006.3(DMD):c.4902_4908del (p.Gly1635fs)
|
rs398123971
|
|
|
NM_004006.3(DMD):c.4903G>T (p.Gly1635Ter)
|
rs2097850128
|
|
|
NM_004006.3(DMD):c.4914_4915del (p.Lys1639fs)
|
rs2097850041
|
|
|
NM_004006.3(DMD):c.4918_4919delinsTG (p.Thr1640Ter)
|
rs1557305645
|
|
|
NM_004006.3(DMD):c.4918del (p.Thr1640fs)
|
rs863225000
|
|
|
NM_004006.3(DMD):c.492_511del (p.Asp165fs)
|
|
|
|
NM_004006.3(DMD):c.4934_4937del (p.Lys1645fs)
|
rs1060502632
|
|
|
NM_004006.3(DMD):c.494A>T (p.Asp165Val)
|
rs1557052542
|
|
|
NM_004006.3(DMD):c.4979G>A (p.Trp1660Ter)
|
rs2097849830
|
|
|
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)
|
rs1603631752
|
|
|
NM_004006.3(DMD):c.4983del (p.Ile1661fs)
|
|
|
|
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)
|
rs398123973
|
|
|
NM_004006.3(DMD):c.5009G>A (p.Trp1670Ter)
|
rs2147258786
|
|
|
NM_004006.3(DMD):c.5021T>A (p.Leu1674Ter)
|
|
|
|
NM_004006.3(DMD):c.5021del (p.Leu1674fs)
|
|
|
|
NM_004006.3(DMD):c.5026-2A>G
|
rs1569559849
|
|
|
NM_004006.3(DMD):c.5031C>G (p.Tyr1677Ter)
|
|
|
|
NM_004006.3(DMD):c.5032C>T (p.Gln1678Ter)
|
rs886042154
|
|
|
NM_004006.3(DMD):c.503C>A (p.Ala168Asp)
|
rs128626236
|
|
|
NM_004006.3(DMD):c.5048del (p.Thr1683fs)
|
|
|
|
NM_004006.3(DMD):c.5056C>T (p.Gln1686Ter)
|
rs1603631744
|
|
|
NM_004006.3(DMD):c.5078_5079AGA[2]CGTGCTTAAGGTAGCAAATAAAATATGAAAAGTAATGTCCAAATTGTACAG[1] (p.Trp1694delinsLysThrCysLeuArgTer)
|
|
|
|
NM_004006.3(DMD):c.5078del (p.Lys1693fs)
|
rs2147253701
|
|
|
NM_004006.3(DMD):c.5081G>A (p.Trp1694Ter)
|
|
|
|
NM_004006.3(DMD):c.5082G>A (p.Trp1694Ter)
|
rs1295394996
|
|
|
NM_004006.3(DMD):c.5100_5101del (p.Leu1701fs)
|
rs1060502647
|
|
|
NM_004006.3(DMD):c.5104_5105del (p.Leu1702fs)
|
rs2147253222
|
|
|
NM_004006.3(DMD):c.5110G>T (p.Glu1704Ter)
|
rs765445866
|
|
|
NM_004006.3(DMD):c.5124_5127del (p.Lys1708fs)
|
rs398123979
|
|
|
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter)
|
rs863225001
|
|
|
NM_004006.3(DMD):c.5131del (p.Gln1711fs)
|
rs2147252708
|
|
|
NM_004006.3(DMD):c.5134C>T (p.Gln1712Ter)
|
rs398123980
|
|
|
NM_004006.3(DMD):c.5139del (p.Glu1714fs)
|
rs1557304860
|
|
|
NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter)
|
rs886042747
|
|
|
NM_004006.3(DMD):c.515_516dup (p.Ile173fs)
|
|
|
|
NM_004006.3(DMD):c.5167G>T (p.Glu1723Ter)
|
rs1603631705
|
|
|
NM_004006.3(DMD):c.516del (p.Ile173fs)
|
rs2148805979
|
|
|
NM_004006.3(DMD):c.5209C>T (p.Gln1737Ter)
|
rs2147234195
|
|
|
NM_004006.3(DMD):c.5255T>G (p.Leu1752Ter)
|
rs373428963
|
|
|
NM_004006.3(DMD):c.5266C>T (p.Gln1756Ter)
|
rs1557303544
|
|
|
NM_004006.3(DMD):c.5273C>A (p.Ser1758Ter)
|
rs2147233083
|
|
|
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)
|
rs398123981
|
|
|
NM_004006.3(DMD):c.528_529del (p.His176fs)
|
rs2148805788
|
|
|
NM_004006.3(DMD):c.531-1G>A
|
rs1569526579
|
|
|
NM_004006.3(DMD):c.531-1G>C
|
rs1569526579
|
|
|
NM_004006.3(DMD):c.531-2A>T
|
rs398123985
|
|
|
NM_004006.3(DMD):c.5314A>T (p.Lys1772Ter)
|
rs886039535
|
|
|
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser)
|
rs1557303381
|
|
|
NM_004006.3(DMD):c.5326_5333del (p.Ala1776fs)
|
|
|
|
NM_004006.3(DMD):c.5339del (p.Pro1779_Leu1780insTer)
|
|
|
|
NM_004006.3(DMD):c.5344G>T (p.Glu1782Ter)
|
rs886044455
|
|
|
NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter)
|
rs777864641
|
|
|
NM_004006.3(DMD):c.5353C>T (p.Gln1785Ter)
|
rs398123990
|
|
|
NM_004006.3(DMD):c.5358del (p.Phe1786fs)
|
rs1603631368
|
|
|
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)
|
rs1569559204
|
|
|
NM_004006.3(DMD):c.5376del (p.Lys1792fs)
|
rs1603631367
|
|
|
NM_004006.3(DMD):c.5383G>T (p.Glu1795Ter)
|
rs79541196
|
|
|
NM_004006.3(DMD):c.5387dup (p.Leu1797fs)
|
rs1603631365
|
|
|
NM_004006.3(DMD):c.5398G>T (p.Glu1800Ter)
|
rs2147064556
|
|
|
NM_004006.3(DMD):c.53del (p.Lys18fs)
|
rs1602766531
|
|
|
NM_004006.3(DMD):c.5404C>T (p.Gln1802Ter)
|
rs1386485242
|
|
|
NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter)
|
rs1557294228
|
|
|
NM_004006.3(DMD):c.5428G>T (p.Glu1810Ter)
|
|
|
|
NM_004006.3(DMD):c.5446dup (p.Met1816fs)
|
|
|
|
NM_004006.3(DMD):c.5449-1G>C
|
rs2147033447
|
|
|
NM_004006.3(DMD):c.5452G>T (p.Glu1818Ter)
|
rs2097762928
|
|
|
NM_004006.3(DMD):c.5455_5459dup (p.Asn1820fs)
|
rs1569559110
|
|
|
NM_004006.3(DMD):c.5461G>T (p.Glu1821Ter)
|
rs863225002
|
|
|
NM_004006.3(DMD):c.5467dup (p.Thr1823fs)
|
rs2147033060
|
|
|
NM_004006.3(DMD):c.5476G>T (p.Glu1826Ter)
|
rs140913030
|
|
|
NM_004006.3(DMD):c.547dup (p.Trp183fs)
|
rs796065333
|
|
|
NM_004006.3(DMD):c.5487_5488del (p.Gly1831fs)
|
rs1569559106
|
|
|
NM_004006.3(DMD):c.548G>A (p.Trp183Ter)
|
|
|
|
NM_004006.3(DMD):c.5506C>T (p.Gln1836Ter)
|
rs770845480
|
|
|
NM_004006.3(DMD):c.5509_5512del (p.Arg1837fs)
|
rs2147032028
|
|
|
NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs)
|
rs2147031776
|
|
|
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)
|
rs1064325
|
|
|
NM_004006.3(DMD):c.5548_5552del (p.Lys1850fs)
|
rs1557292678
|
|
|
NM_004006.3(DMD):c.5551C>T (p.Gln1851Ter)
|
rs128625228
|
|
|
NM_004006.3(DMD):c.5554C>T (p.Gln1852Ter)
|
rs398123991
|
|
|
NM_004006.3(DMD):c.5559del (p.Leu1854fs)
|
|
|
|
NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter)
|
rs1569559097
|
|
|
NM_004006.3(DMD):c.5565_5568del (p.Thr1856fs)
|
|
|
|
NM_004006.3(DMD):c.5567del (p.Thr1856fs)
|
|
|
|
NM_004006.3(DMD):c.5595del (p.Arg1865fs)
|
rs1557291242
|
|
|
NM_004006.3(DMD):c.5602A>T (p.Arg1868Ter)
|
rs1557291229
|
|
|
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs)
|
rs863225003
|
|
|
NM_004006.3(DMD):c.5602dup (p.Arg1868fs)
|
|
|
|
NM_004006.3(DMD):c.5612dup (p.Ala1872fs)
|
|
|
|
NM_004006.3(DMD):c.5613_5640del (p.Lys1871fs)
|
rs1557291170
|
|
|
NM_004006.3(DMD):c.5632C>T (p.Gln1878Ter)
|
rs2146992010
|
|
|
NM_004006.3(DMD):c.5636G>A (p.Trp1879Ter)
|
rs1603631244
|
|
|
NM_004006.3(DMD):c.5637G>A (p.Trp1879Ter)
|
rs865856945
|
|
|
NM_004006.3(DMD):c.5641C>T (p.Gln1881Ter)
|
rs863225004
|
|
|
NM_004006.3(DMD):c.5646C>A (p.Tyr1882Ter)
|
rs2097753394
|
|
|
NM_004006.3(DMD):c.5647A>T (p.Lys1883Ter)
|
rs1060502623
|
|
|
NM_004006.3(DMD):c.5649del (p.Arg1884fs)
|
rs2146991715
|
|
|
NM_004006.3(DMD):c.5652del (p.Arg1884fs)
|
rs1057518692
|
|
|
NM_004006.3(DMD):c.5689G>T (p.Glu1897Ter)
|
rs1603631240
|
|
|
NM_004006.3(DMD):c.5689dup (p.Glu1897fs)
|
rs1603631241
|
|
|
NM_004006.3(DMD):c.568C>T (p.Gln190Ter)
|
rs2148751523
|
|
|
NM_004006.3(DMD):c.5697del (p.Lys1899fs)
|
rs794727661
|
|
|
NM_004006.3(DMD):c.5697dup (p.Leu1900fs)
|
rs794727661
|
|
|
NM_004006.3(DMD):c.5699T>A (p.Leu1900Ter)
|
rs1057518866
|
|
|
NM_004006.3(DMD):c.5699T>G (p.Leu1900Ter)
|
rs1057518866
|
|
|
NM_004006.3(DMD):c.5704_5707del (p.Ser1902fs)
|
rs2097752909
|
|
|
NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs)
|
rs1569558953
|
|
|
NM_004006.3(DMD):c.572C>A (p.Ser191Ter)
|
rs794727863
|
|
|
NM_004006.3(DMD):c.5740-1G>T
|
rs2148813707
|
|
|
NM_004006.3(DMD):c.574_577del (p.Ala192fs)
|
rs2148751467
|
|
|
NM_004006.3(DMD):c.5758C>T (p.Gln1920Ter)
|
rs1057520764
|
|
|
NM_004006.3(DMD):c.5771_5772del (p.Glu1924fs)
|
|
|
|
NM_004006.3(DMD):c.5773G>T (p.Glu1925Ter)
|
rs398123997
|
|
|
NM_004006.3(DMD):c.5773dup (p.Glu1925fs)
|
|
|
|
NM_004006.3(DMD):c.5794C>T (p.Gln1932Ter)
|
rs2097747388
|
|
|
NM_004006.3(DMD):c.5812G>T (p.Glu1938Ter)
|
rs2097747311
|
|
|
NM_004006.3(DMD):c.5821dup (p.Ala1941fs)
|
rs1603631225
|
|
|
NM_004006.3(DMD):c.583C>T (p.Arg195Ter)
|
rs398123999
|
|
|
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter)
|
rs773643220
|
|
|
NM_004006.3(DMD):c.5867G>A (p.Trp1956Ter)
|
rs1569558906
|
|
|
NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter)
|
rs794727666
|
|
|
NM_004006.3(DMD):c.5878G>T (p.Glu1960Ter)
|
rs2148812748
|
|
|
NM_004006.3(DMD):c.5884_5891del (p.Lys1962fs)
|
rs1060502646
|
|
|
NM_004006.3(DMD):c.589G>T (p.Glu197Ter)
|
rs1340365803
|
|
|
NM_004006.3(DMD):c.58del (p.Thr20fs)
|
rs1602766499
|
|
|
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter)
|
rs863225005
|
|
|
NM_004006.3(DMD):c.5932del (p.Arg1978fs)
|
|
|
|
NM_004006.3(DMD):c.5953del (p.Val1984_Met1985insTer)
|
rs2148596228
|
|
|
NM_004006.3(DMD):c.5985T>G (p.Tyr1995Ter)
|
rs128627257
|
|
|
NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter)
|
rs398124002
|
|
|
NM_004006.3(DMD):c.6014_6017del (p.Thr2005fs)
|
rs398124003
|
|
|
NM_004006.3(DMD):c.6021dup (p.Ser2008fs)
|
|
|
|
NM_004006.3(DMD):c.6023C>G (p.Ser2008Ter)
|
rs1603630431
|
|
|
NM_004006.3(DMD):c.6025C>T (p.Gln2009Ter)
|
rs1569556943
|
|
|
NM_004006.3(DMD):c.6031del (p.Leu2011fs)
|
|
|
|
NM_004006.3(DMD):c.6040dup (p.Val2014fs)
|
|
|
|
NM_004006.3(DMD):c.6046C>T (p.Gln2016Ter)
|
|
|
|
NM_004006.3(DMD):c.6075dup (p.Lys2026Ter)
|
|
|
|
NM_004006.3(DMD):c.607_616del (p.Ala203fs)
|
rs2148750934
|
|
|
NM_004006.3(DMD):c.6099_6100delinsTT (p.Lys2033_Gln2034delinsAsnTer)
|
|
|
|
NM_004006.3(DMD):c.6118-1G>A
|
rs1060502656
|
|
|
NM_004006.3(DMD):c.6118-1G>C
|
rs1060502656
|
|
|
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs)
|
rs863225006
|
|
|
NM_004006.3(DMD):c.6136C>T (p.Gln2046Ter)
|
rs2148457829
|
|
|
NM_004006.3(DMD):c.6146C>G (p.Ser2049Ter)
|
rs878911532
|
|
|
NM_004006.3(DMD):c.6151del (p.Arg2051fs)
|
rs1603629988
|
|
|
NM_004006.3(DMD):c.6154del (p.Ile2052fs)
|
|
|
|
NM_004006.3(DMD):c.615T>G (p.Tyr205Ter)
|
|
|
|
NM_004006.3(DMD):c.616C>T (p.Gln206Ter)
|
rs1603432076
|
|
|
NM_004006.3(DMD):c.6200del (p.Thr2067fs)
|
rs2148457196
|
|
|
NM_004006.3(DMD):c.6203del (p.Pro2068fs)
|
rs2097447725
|
|
|
NM_004006.3(DMD):c.6205del (p.Val2069fs)
|
rs1060502640
|
|
|
NM_004006.3(DMD):c.620T>A (p.Leu207Ter)
|
|
|
|
NM_004006.3(DMD):c.6213_6219del (p.Arg2071fs)
|
rs2148457026
|
|
|
NM_004006.3(DMD):c.6226G>T (p.Glu2076Ter)
|
rs398124007
|
|
|
NM_004006.3(DMD):c.6238C>T (p.Gln2080Ter)
|
rs1340785309
|
|
|
NM_004006.3(DMD):c.6250C>T (p.Gln2084Ter)
|
rs2148456727
|
|
|
NM_004006.3(DMD):c.6254G>A (p.Trp2085Ter)
|
rs2148456690
|
|
|
NM_004006.3(DMD):c.6259A>T (p.Lys2087Ter)
|
rs2148456625
|
|
|
NM_004006.3(DMD):c.627del (p.Ile209fs)
|
rs794727862
|
|
|
NM_004006.3(DMD):c.6286C>T (p.Gln2096Ter)
|
rs2148456401
|
|
|
NM_004006.3(DMD):c.6290+2T>A
|
rs2097447247
|
|
|
NM_004006.3(DMD):c.6290+3076A>G
|
|
|
|
NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter)
|
rs128626250
|
|
|
NM_004006.3(DMD):c.6300del (p.Asp2100fs)
|
rs1603628487
|
|
|
NM_004006.3(DMD):c.630del (p.Lys211fs)
|
rs1557047827
|
|
|
NM_004006.3(DMD):c.633dup (p.Leu212fs)
|
rs2148750700
|
|
|
NM_004006.3(DMD):c.6351_6366del (p.Asn2117fs)
|
rs2147865582
|
|
|
NM_004006.3(DMD):c.6356G>A (p.Trp2119Ter)
|
rs1603628485
|
|
|
NM_004006.3(DMD):c.6357G>A (p.Trp2119Ter)
|
rs1603628483
|
|
|
NM_004006.3(DMD):c.635_636dup (p.Leu213fs)
|
rs1603432059
|
|
|
NM_004006.3(DMD):c.6364_6365del (p.Glu2122fs)
|
rs1603628482
|
|
|
NM_004006.3(DMD):c.6373C>T (p.Gln2125Ter)
|
rs128626251
|
|
|
NM_004006.3(DMD):c.6377_6378del (p.Phe2126fs)
|
rs2147865476
|
|
|
NM_004006.3(DMD):c.6382A>T (p.Arg2128Ter)
|
|
|
|
NM_004006.3(DMD):c.6391_6392del (p.Gln2131fs)
|
rs398124012
|
|
|
NM_004006.3(DMD):c.6391_6392dup (p.Gln2131fs)
|
rs398124012
|
|
|
NM_004006.3(DMD):c.6404del (p.Asn2135fs)
|
|
|
|
NM_004006.3(DMD):c.6408G>A (p.Trp2136Ter)
|
rs1557218131
|
|
|
NM_004006.3(DMD):c.6421del (p.Tyr2141fs)
|
|
|
|
NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter)
|
rs1425702864
|
|
|
NM_004006.3(DMD):c.6423C>G (p.Tyr2141Ter)
|
rs1425702864
|
|
|
NM_004006.3(DMD):c.6423del (p.Lys2140_Tyr2141insTer)
|
rs1557218093
|
|
|
NM_004006.3(DMD):c.6424A>T (p.Lys2142Ter)
|
rs1557218076
|
|
|
NM_004006.3(DMD):c.6452_6459dup (p.Gln2154fs)
|
rs2150188102
|
|
|
NM_004006.3(DMD):c.646G>T (p.Glu216Ter)
|
rs2148750599
|
|
|
NM_004006.3(DMD):c.6474del (p.Val2159fs)
|
rs2095370524
|
|
|
NM_004006.3(DMD):c.6485T>A (p.Leu2162Ter)
|
|
|
|
NM_004006.3(DMD):c.650-1827_771del
|
|
|
|
NM_004006.3(DMD):c.650-39498A>G
|
rs1556980528
|
|
|
NM_004006.3(DMD):c.6502G>T (p.Glu2168Ter)
|
rs779739455
|
|
|
NM_004006.3(DMD):c.6514C>T (p.Gln2172Ter)
|
rs2150187643
|
|
|
NM_004006.3(DMD):c.6528del (p.Asp2177fs)
|
rs2150187539
|
|
|
NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter)
|
rs1557038061
|
|
|
NM_004006.3(DMD):c.656dup (p.Asp219fs)
|
rs1556930839
|
|
|
NM_004006.3(DMD):c.6578del (p.Gln2193fs)
|
|
|
|
NM_004006.3(DMD):c.6592C>T (p.Gln2198Ter)
|
rs2150187018
|
|
|
NM_004006.3(DMD):c.6610_6611del (p.Lys2204fs)
|
rs863225007
|
|
|
NM_004006.3(DMD):c.6611del (p.Lys2204fs)
|
rs863225007
|
|
|
NM_004006.3(DMD):c.6611dup (p.Arg2205fs)
|
rs863225007
|
|
|
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
|
|
|
|
NM_004006.3(DMD):c.6614+1G>A
|
|
|
|
NM_004006.3(DMD):c.6614+1G>C
|
rs2150186856
|
|
|
NM_004006.3(DMD):c.6614+2T>C
|
rs1060502641
|
|
|
NM_004006.3(DMD):c.6615-1G>A
|
|
|
|
NM_004006.3(DMD):c.6615-2A>G
|
rs1557011973
|
|
|
NM_004006.3(DMD):c.6615-2A>T
|
rs1557011973
|
|
|
NM_004006.3(DMD):c.6622G>T (p.Glu2208Ter)
|
rs2094864356
|
|
|
NM_004006.3(DMD):c.6629del (p.Lys2210fs)
|
rs2094864231
|
|
|
NM_004006.3(DMD):c.6652dup (p.Arg2218fs)
|
|
|
|
NM_004006.3(DMD):c.6662del (p.Asn2221fs)
|
rs1060502620
|
|
|
NM_004006.3(DMD):c.666T>G (p.Tyr222Ter)
|
rs1603151699
|
|
|
NM_004006.3(DMD):c.666dup (p.Pro223fs)
|
|
|
|
NM_004006.3(DMD):c.6677G>A (p.Trp2226Ter)
|
rs2150001671
|
|
|
NM_004006.3(DMD):c.6704del (p.Ser2235fs)
|
rs2094862793
|
|
|
NM_004006.3(DMD):c.6721G>T (p.Gly2241Ter)
|
rs2150001373
|
|
|
NM_004006.3(DMD):c.673AAG[1] (p.Lys226del)
|
rs398124034
|
|
|
NM_004006.3(DMD):c.6751G>T (p.Glu2251Ter)
|
|
|
|
NM_004006.3(DMD):c.6754C>T (p.Gln2252Ter)
|
rs1603615883
|
|
|
NM_004006.3(DMD):c.6760A>T (p.Lys2254Ter)
|
rs201818335
|
|
|
NM_004006.3(DMD):c.6762+1G>A
|
rs886039534
|
|
|
NM_004006.3(DMD):c.6776_6792del (p.Glu2259fs)
|
rs2149990101
|
|
|
NM_004006.3(DMD):c.6790C>T (p.Gln2264Ter)
|
rs128626252
|
|
|
NM_004006.3(DMD):c.6804_6807del (p.Lys2268fs)
|
rs886044490
|
|
|
NM_004006.3(DMD):c.6814G>T (p.Glu2272Ter)
|
rs1557010214
|
|
|
NM_004006.3(DMD):c.6838dup (p.Ser2280fs)
|
rs2149989683
|
|
|
NM_004006.3(DMD):c.6840del (p.Ser2280fs)
|
rs2149989620
|
|
|
NM_004006.3(DMD):c.6859G>T (p.Glu2287Ter)
|
|
|
|
NM_004006.3(DMD):c.686T>G (p.Leu229Ter)
|
rs1556930769
|
|
|
NM_004006.3(DMD):c.6901C>T (p.Gln2301Ter)
|
rs2094827204
|
|
|
NM_004006.3(DMD):c.6907del (p.Trp2302_Ile2303insTer)
|
|
|
|
NM_004006.3(DMD):c.6913-1G>C
|
|
|
|
NM_004006.3(DMD):c.6913-1G>T
|
rs1603514271
|
|
|
NM_004006.3(DMD):c.6913-2A>C
|
rs1603514272
|
|
|
NM_004006.3(DMD):c.6913-2A>T
|
rs1603514272
|
|
|
NM_004006.3(DMD):c.691T>A (p.Tyr231Asn)
|
rs128626237
|
|
|
NM_004006.3(DMD):c.6923del (p.Ala2308fs)
|
|
|
|
NM_004006.3(DMD):c.6924_6928del (p.Ala2308_Leu2309insTer)
|
|
|
|
NM_004006.3(DMD):c.692del (p.Tyr231fs)
|
rs2147606440
|
|
|
NM_004006.3(DMD):c.6937C>T (p.Gln2313Ter)
|
rs2149680612
|
|
|
NM_004006.3(DMD):c.693C>G (p.Tyr231Ter)
|
rs374222301
|
|
|
NM_004006.3(DMD):c.6949G>T (p.Glu2317Ter)
|
rs2149680574
|
|
|
NM_004006.3(DMD):c.6955C>T (p.Gln2319Ter)
|
rs128625230
|
|
|
NM_004006.3(DMD):c.6964del (p.Asp2322fs)
|
rs398124039
|
|
|
NM_004006.3(DMD):c.6967del (p.Gln2325fs)
|
|
|
|
NM_004006.3(DMD):c.6973C>T (p.Gln2325Ter)
|
rs781054741
|
|
|
NM_004006.3(DMD):c.6985A>T (p.Lys2329Ter)
|
|
|
|
NM_004006.3(DMD):c.6986_6987insTATATGGATCACATATACTCATCAGTGATTGTTCAGTAGTGAGCTGTGGGTCCTGCAGGAGCCAGCCAGTCTCCAA (p.Lys2329delinsAsnIleTrpIleThrTyrThrHisGlnTer)
|
|
|
|
NM_004006.3(DMD):c.6986del (p.Lys2329fs)
|
rs398124040
|
|
|
NM_004006.3(DMD):c.6986dup (p.Leu2330fs)
|
rs398124040
|
|
|
NM_004006.3(DMD):c.699_703del (p.Ser234fs)
|
|
|
|
NM_004006.3(DMD):c.699_703dup (p.Leu235fs)
|
rs1569469298
|
|
|
NM_004006.3(DMD):c.69dup (p.Trp24fs)
|
rs2147755217
|
|
|
NM_004006.3(DMD):c.7010T>G (p.Leu2337Ter)
|
rs2149680248
|
|
|
NM_004006.3(DMD):c.7025_7026insTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATCATCTGCTGCT (p.Leu2342_Trp2343insGlyPheLeuPheLeuArgTer)
|
|
|
|
NM_004006.3(DMD):c.7027del (p.Trp2343fs)
|
rs1603513828
|
|
|
NM_004006.3(DMD):c.7028G>A (p.Trp2343Ter)
|
rs1603513817
|
|
|
NM_004006.3(DMD):c.7029G>A (p.Trp2343Ter)
|
rs1603513803
|
|
|
NM_004006.3(DMD):c.7048C>T (p.Gln2350Ter)
|
rs2149679978
|
|
|
NM_004006.3(DMD):c.7048_7057del (p.Gln2350fs)
|
rs1603513697
|
|
|
NM_004006.3(DMD):c.7060del (p.Tyr2354fs)
|
rs2149679899
|
|
|
NM_004006.3(DMD):c.7062T>A (p.Tyr2354Ter)
|
|
|
|
NM_004006.3(DMD):c.7066C>T (p.Gln2356Ter)
|
rs1603513684
|
|
|
NM_004006.3(DMD):c.7068_7069del (p.Gln2356fs)
|
rs1060502659
|
|
|
NM_004006.3(DMD):c.7068del (p.Gln2356fs)
|
rs1603513680
|
|
|
NM_004006.3(DMD):c.7075C>T (p.Gln2359Ter)
|
rs2149679784
|
|
|
NM_004006.3(DMD):c.7077_7078delinsT (p.Gln2359fs)
|
rs2149679748
|
|
|
NM_004006.3(DMD):c.7098+1G>A
|
rs1556962223
|
|
|
NM_004006.3(DMD):c.7098+1G>C
|
|
|
|
NM_004006.3(DMD):c.7098+1G>T
|
rs1556962223
|
|
|
NM_004006.3(DMD):c.709C>T (p.Gln237Ter)
|
rs2147605826
|
|
|
NM_004006.3(DMD):c.709del (p.Gln237fs)
|
rs1603150993
|
|
|
NM_004006.3(DMD):c.7105G>T (p.Glu2369Ter)
|
rs863225008
|
|
|
NM_004006.3(DMD):c.7132del (p.Asp2378fs)
|
|
|
|
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter)
|
rs1556930579
|
|
|
NM_004006.3(DMD):c.7179dup (p.Pro2394fs)
|
rs2093207581
|
|
|
NM_004006.3(DMD):c.71G>A (p.Trp24Ter)
|
rs2147755143
|
|
|
NM_004006.3(DMD):c.7231A>T (p.Lys2411Ter)
|
|
|
|
NM_004006.3(DMD):c.7241_7243delinsGTTT (p.Asn2414fs)
|
rs1064792967
|
|
|
NM_004006.3(DMD):c.7241dup (p.Asn2414fs)
|
|
|
|
NM_004006.3(DMD):c.7247T>A (p.Leu2416Ter)
|
rs1569452000
|
|
|
NM_004006.3(DMD):c.7247dup (p.Leu2416fs)
|
rs797044764
|
|
|
NM_004006.3(DMD):c.724C>T (p.Gln242Ter)
|
rs128626238
|
|
|
NM_004006.3(DMD):c.7252C>T (p.Gln2418Ter)
|
rs1569451994
|
|
|
NM_004006.3(DMD):c.7268del (p.Lys2423fs)
|
rs1556917057
|
|
|
NM_004006.3(DMD):c.7309+1G>A
|
rs398124044
|
|
|
NM_004006.3(DMD):c.7309+1G>T
|
rs398124044
|
|
|
NM_004006.3(DMD):c.7309+4del
|
rs2149424269
|
|
|
NM_004006.3(DMD):c.7310-1G>A
|
rs1556880354
|
|
|
NM_004006.3(DMD):c.7310-2A>G
|
|
|
|
NM_004006.3(DMD):c.732_733insCAAT (p.Ile245fs)
|
rs2147605245
|
|
|
NM_004006.3(DMD):c.7334del (p.Val2445fs)
|
|
|
|
NM_004006.3(DMD):c.7378G>T (p.Glu2460Ter)
|
rs2090513299
|
|
|
NM_004006.3(DMD):c.7381del (p.Met2461fs)
|
rs2149245287
|
|
|
NM_004006.3(DMD):c.7398del (p.Met2466fs)
|
|
|
|
NM_004006.3(DMD):c.7400T>A (p.Leu2467Ter)
|
rs1254776844
|
|
|
NM_004006.3(DMD):c.7402G>T (p.Glu2468Ter)
|
rs128626253
|
|
|
NM_004006.3(DMD):c.7427del (p.Asn2476fs)
|
|
|
|
NM_004006.3(DMD):c.7437G>A (p.Trp2479Ter)
|
rs2149245072
|
|
|
NM_004006.3(DMD):c.7449del (p.Asp2484fs)
|
rs2149244988
|
|
|
NM_004006.3(DMD):c.7454G>A (p.Trp2485Ter)
|
rs142500746
|
|
|
NM_004006.3(DMD):c.745C>T (p.Gln249Ter)
|
rs2147604940
|
|
|
NM_004006.3(DMD):c.7471C>T (p.Gln2491Ter)
|
rs2149244826
|
|
|
NM_004006.3(DMD):c.7471del (p.Gln2491fs)
|
|
|
|
NM_004006.3(DMD):c.748G>T (p.Glu250Ter)
|
rs128626239
|
|
|
NM_004006.3(DMD):c.7522G>T (p.Glu2508Ter)
|
|
|
|
NM_004006.3(DMD):c.7542+1G>A
|
rs2149244412
|
|
|
NM_004006.3(DMD):c.7564C>T (p.Gln2522Ter)
|
rs1603452207
|
|
|
NM_004006.3(DMD):c.7576C>T (p.Gln2526Ter)
|
rs2149018402
|
|
|
NM_004006.3(DMD):c.7577dup (p.Leu2527fs)
|
rs2086356460
|
|
|
NM_004006.3(DMD):c.7580T>A (p.Leu2527Ter)
|
rs1603452200
|
|
|
NM_004006.3(DMD):c.7585G>T (p.Glu2529Ter)
|
rs771509836
|
|
|
NM_004006.3(DMD):c.7603C>T (p.Gln2535Ter)
|
rs2149018213
|
|
|
NM_004006.3(DMD):c.7616dup (p.Asn2539fs)
|
rs1603452196
|
|
|
NM_004006.3(DMD):c.7618_7619del (p.Lys2540fs)
|
rs2086354048
|
|
|
NM_004006.3(DMD):c.7629_7632del (p.Asn2543fs)
|
rs2149018065
|
|
|
NM_004006.3(DMD):c.7651dup (p.Thr2551fs)
|
rs2149017933
|
|
|
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)
|
rs398124050
|
|
|
NM_004006.3(DMD):c.7660+1G>C
|
rs1556852444
|
|
|
NM_004006.3(DMD):c.7660+2T>G
|
|
|
|
NM_004006.3(DMD):c.7661-1G>A
|
rs1556806346
|
|
|
NM_004006.3(DMD):c.7661-2A>C
|
rs1556806356
|
|
|
NM_004006.3(DMD):c.7661-2A>G
|
rs1556806356
|
|
|
NM_004006.3(DMD):c.7672C>T (p.Gln2558Ter)
|
rs398124051
|
|
|
NM_004006.3(DMD):c.7680del (p.Gln2560fs)
|
rs2148734269
|
|
|
NM_004006.3(DMD):c.7705C>T (p.Gln2569Ter)
|
rs1603445344
|
|
|
NM_004006.3(DMD):c.7717C>T (p.Gln2573Ter)
|
rs1603445332
|
|
|
NM_004006.3(DMD):c.7720C>T (p.Gln2574Ter)
|
rs2082260996
|
|
|
NM_004006.3(DMD):c.7736T>A (p.Leu2579Ter)
|
rs2082260036
|
|
|
NM_004006.3(DMD):c.774dup (p.Lys259Ter)
|
rs1603150335
|
|
|
NM_004006.3(DMD):c.7750C>T (p.Gln2584Ter)
|
rs2148733515
|
|
|
NM_004006.3(DMD):c.7755G>A (p.Trp2585Ter)
|
rs762394978
|
|
|
NM_004006.3(DMD):c.7768G>T (p.Glu2590Ter)
|
rs2082258116
|
|
|
NM_004006.3(DMD):c.7771G>T (p.Glu2591Ter)
|
rs398124055
|
|
|
NM_004006.3(DMD):c.7781del (p.Gln2594fs)
|
rs878854621
|
|
|
NM_004006.3(DMD):c.7792C>T (p.Gln2598Ter)
|
rs2148733074
|
|
|
NM_004006.3(DMD):c.7817G>A (p.Trp2606Ter)
|
rs863225009
|
|
|
NM_004006.3(DMD):c.7822G>T (p.Glu2608Ter)
|
rs2148732716
|
|
|
NM_004006.3(DMD):c.7833_7834dup (p.Thr2612fs)
|
|
|
|
NM_004006.3(DMD):c.783_793del (p.Lys262fs)
|
rs2147604021
|
|
|
NM_004006.3(DMD):c.7852A>T (p.Lys2618Ter)
|
rs2082253437
|
|
|
NM_004006.3(DMD):c.7853del (p.Lys2618fs)
|
|
|
|
NM_004006.3(DMD):c.7855A>T (p.Lys2619Ter)
|
rs2148732436
|
|
|
NM_004006.3(DMD):c.7858dup (p.Ile2620fs)
|
rs1603445283
|
|
|
NM_004006.3(DMD):c.7872+1G>A
|
rs1603445278
|
|
|
NM_004006.3(DMD):c.7872+2T>A
|
rs1603445277
|
|
|
NM_004006.3(DMD):c.7894C>T (p.Gln2632Ter)
|
rs398124058
|
|
|
NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter)
|
rs1556790316
|
|
|
NM_004006.3(DMD):c.790G>T (p.Glu264Ter)
|
rs2147604088
|
|
|
NM_004006.3(DMD):c.7992_7993del (p.Asn2665fs)
|
rs2148615195
|
|
|
NM_004006.3(DMD):c.799C>T (p.Gln267Ter)
|
rs878854383
|
|
|
NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter)
|
rs1569186252
|
|
|
NM_004006.3(DMD):c.8026del (p.Arg2676fs)
|
|
|
|
NM_004006.3(DMD):c.8027+1G>A
|
rs1556789913
|
|
|
NM_004006.3(DMD):c.8027+1G>T
|
rs1556789913
|
|
|
NM_004006.3(DMD):c.8027+2T>A
|
rs863225010
|
|
|
NM_004006.3(DMD):c.8028-1G>A
|
rs2148423696
|
|
|
NM_004006.3(DMD):c.8028-1G>T
|
rs2148423696
|
|
|
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)
|
rs863225011
|
|
|
NM_004006.3(DMD):c.8064_8065del (p.His2688fs)
|
rs398124060
|
|
|
NM_004006.3(DMD):c.8066_8070del (p.Arg2689fs)
|
rs1556764934
|
|
|
NM_004006.3(DMD):c.8077C>T (p.Gln2693Ter)
|
rs1556764922
|
|
|
NM_004006.3(DMD):c.8086del (p.Leu2696fs)
|
rs398124062
|
|
|
NM_004006.3(DMD):c.8087del (p.Leu2696fs)
|
|
|
|
NM_004006.3(DMD):c.8091_8098dup (p.Lys2700fs)
|
|
|
|
NM_004006.3(DMD):c.8096_8112del (p.Glu2699fs)
|
rs1556764880
|
|
|
NM_004006.3(DMD):c.811C>T (p.Gln271Ter)
|
rs2063890662
|
|
|
NM_004006.3(DMD):c.8128del (p.Thr2710fs)
|
|
|
|
NM_004006.3(DMD):c.8145dup (p.Gln2716fs)
|
rs1603430181
|
|
|
NM_004006.3(DMD):c.8146C>T (p.Gln2716Ter)
|
rs1603430178
|
|
|
NM_004006.3(DMD):c.8196del (p.Glu2733fs)
|
rs1556764753
|
|
|
NM_004006.3(DMD):c.8197G>T (p.Glu2733Ter)
|
rs1556764743
|
|
|
NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter)
|
rs2148421809
|
|
|
NM_004006.3(DMD):c.8209C>T (p.Gln2737Ter)
|
rs1060502621
|
|
|
NM_004006.3(DMD):c.8214G>A (p.Trp2738Ter)
|
rs2078916448
|
|
|
NM_004006.3(DMD):c.8215C>T (p.Gln2739Ter)
|
rs2148421666
|
|
|
NM_004006.3(DMD):c.8217+2T>G
|
rs2148421651
|
|
|
NM_004006.3(DMD):c.8218-2A>G
|
rs886039478
|
|
|
NM_004006.3(DMD):c.8224C>T (p.Gln2742Ter)
|
rs2147177872
|
|
|
NM_004006.3(DMD):c.822T>A (p.Tyr274Ter)
|
rs1603149954
|
|
|
NM_004006.3(DMD):c.826C>T (p.Gln276Ter)
|
rs2147603245
|
|
|
NM_004006.3(DMD):c.8273del (p.Asn2758fs)
|
rs2147177179
|
|
|
NM_004006.3(DMD):c.8278C>T (p.Gln2760Ter)
|
rs1603280796
|
|
|
NM_004006.3(DMD):c.8284del (p.Ile2762fs)
|
rs2071057426
|
|
|
NM_004006.3(DMD):c.8284dup (p.Ile2762fs)
|
rs2071057426
|
|
|
NM_004006.3(DMD):c.8299G>T (p.Glu2767Ter)
|
rs1603280745
|
|
|
NM_004006.3(DMD):c.831+1G>A
|
rs1239018406
|
|
|
NM_004006.3(DMD):c.831+1G>C
|
rs1239018406
|
|
|
NM_004006.3(DMD):c.831+1G>T
|
rs1239018406
|
|
|
NM_004006.3(DMD):c.8313_8316dup (p.Val2773fs)
|
rs2147176325
|
|
|
NM_004006.3(DMD):c.831G>A (p.Gln277=)
|
rs398124067
|
|
|
NM_004006.3(DMD):c.832-186T>G
|
|
|
|
NM_004006.3(DMD):c.8326del (p.Gln2776fs)
|
rs1603280686
|
|
|
NM_004006.3(DMD):c.8344_8359dup (p.Ser2787fs)
|
rs2147175548
|
|
|
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter)
|
rs863225012
|
|
|
NM_004006.3(DMD):c.8358G>A (p.Trp2786Ter)
|
rs398124068
|
|
|
NM_004006.3(DMD):c.8368del (p.Arg2790fs)
|
|
|
|
NM_004006.3(DMD):c.8374_8375del (p.Lys2792fs)
|
rs398124070
|
|
|
NM_004006.3(DMD):c.8390+1G>A
|
rs1064794569
|
|
|
NM_004006.3(DMD):c.8390+2T>C
|
rs863225013
|
|
|
NM_004006.3(DMD):c.8390+2T>G
|
|
|
|
NM_004006.3(DMD):c.8391-1G>A
|
rs1603264731
|
|
|
NM_004006.3(DMD):c.8391-1_8391delinsAA
|
rs1060502619
|
|
|
NM_004006.3(DMD):c.8395del (p.His2799fs)
|
rs2069923072
|
|
|
NM_004006.3(DMD):c.839del (p.Val280fs)
|
rs1603137168
|
|
|
NM_004006.3(DMD):c.8403del (p.Ala2802fs)
|
|
|
|
NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter)
|
rs2147076500
|
|
|
NM_004006.3(DMD):c.8417del (p.Gln2806fs)
|
rs1603264705
|
|
|
NM_004006.3(DMD):c.8420G>A (p.Trp2807Ter)
|
rs2147076359
|
|
|
NM_004006.3(DMD):c.8421G>A (p.Trp2807Ter)
|
rs2147076330
|
|
|
NM_004006.3(DMD):c.8443C>T (p.Gln2815Ter)
|
rs398124072
|
|
|
NM_004006.3(DMD):c.8446G>T (p.Glu2816Ter)
|
rs2147075923
|
|
|
NM_004006.3(DMD):c.8451del (p.Leu2818fs)
|
rs1603264659
|
|
|
NM_004006.3(DMD):c.8460G>A (p.Trp2820Ter)
|
rs1603264641
|
|
|
NM_004006.3(DMD):c.8479G>T (p.Glu2827Ter)
|
rs2147075563
|
|
|
NM_004006.3(DMD):c.8491C>T (p.Gln2831Ter)
|
rs753225356
|
|
|
NM_004006.3(DMD):c.8530C>T (p.Gln2844Ter)
|
|
|
|
NM_004006.3(DMD):c.8548-1G>C
|
rs1569546198
|
|
|
NM_004006.3(DMD):c.8548-2A>G
|
rs2068042914
|
|
|
NM_004006.3(DMD):c.8560G>T (p.Glu2854Ter)
|
|
|
|
NM_004006.3(DMD):c.8564T>A (p.Leu2855Ter)
|
|
|
|
NM_004006.3(DMD):c.8569del (p.Thr2857fs)
|
rs1603226023
|
|
|
NM_004006.3(DMD):c.8572A>T (p.Lys2858Ter)
|
rs2149257421
|
|
|
NM_004006.3(DMD):c.8575G>T (p.Glu2859Ter)
|
rs1556656851
|
|
|
NM_004006.3(DMD):c.8577_8578insGT (p.Pro2860fs)
|
|
|
|
NM_004006.3(DMD):c.8579del (p.Pro2860fs)
|
rs1556656847
|
|
|
NM_004006.3(DMD):c.857dup (p.Tyr286Ter)
|
rs1556929259
|
|
|
NM_004006.3(DMD):c.8596_8600del (p.Leu2866fs)
|
rs2068038543
|
|
|
NM_004006.3(DMD):c.8598_8599insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTATCCAGGATGGTCTCGATCTCCTGAACAATCATGAGTACTCTT (p.Glu2867delinsPhePhePhePhePhePheXaaXaaXaaXaaArgProProProArgProAlaAsnPheLeuTyrPheTer)
|
rs2149257310
|
|
|
NM_004006.3(DMD):c.859G>T (p.Glu287Ter)
|
|
|
|
NM_004006.3(DMD):c.8604dup (p.Val2869fs)
|
rs1556656818
|
|
|
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)
|
rs398124074
|
|
|
NM_004006.3(DMD):c.8626C>T (p.Gln2876Ter)
|
rs2068036881
|
|
|
NM_004006.3(DMD):c.8627dup (p.Pro2877fs)
|
|
|
|
NM_004006.3(DMD):c.8652_8653del (p.Tyr2885fs)
|
rs398124075
|
|
|
NM_004006.3(DMD):c.8655C>A (p.Tyr2885Ter)
|
rs1569546174
|
|
|
NM_004006.3(DMD):c.8656C>T (p.Gln2886Ter)
|
rs201361100
|
|
|
NM_004006.3(DMD):c.8668+1G>A
|
rs2149256957
|
|
|
NM_004006.3(DMD):c.8669-1G>C
|
rs886044324
|
|
|
NM_004006.3(DMD):c.8669-2A>T
|
rs794727770
|
|
|
NM_004006.3(DMD):c.8675del (p.Pro2892fs)
|
rs1556656487
|
|
|
NM_004006.3(DMD):c.8680G>T (p.Glu2894Ter)
|
rs727503802
|
|
|
NM_004006.3(DMD):c.8683dup (p.Glu2895fs)
|
rs1556656456
|
|
|
NM_004006.3(DMD):c.8692C>T (p.Gln2898Ter)
|
rs2149254230
|
|
|
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)
|
rs128627256
|
|
|
NM_004006.3(DMD):c.8731del (p.Val2911fs)
|
rs1603223025
|
|
|
NM_004006.3(DMD):c.8744G>A (p.Trp2915Ter)
|
rs1603222922
|
|
|
NM_004006.3(DMD):c.8745G>A (p.Trp2915Ter)
|
rs761750882
|
|
|
NM_004006.3(DMD):c.8746del (p.Glu2916fs)
|
rs1603222897
|
|
|
NM_004006.3(DMD):c.8756_8763del (p.Asn2919fs)
|
rs2067963703
|
|
|
NM_004006.3(DMD):c.875del (p.Pro292fs)
|
|
|
|
NM_004006.3(DMD):c.8775G>A (p.Trp2925Ter)
|
rs868688877
|
|
|
NM_004006.3(DMD):c.8776C>T (p.Gln2926Ter)
|
rs2149253473
|
|
|
NM_004006.3(DMD):c.8797del (p.Glu2934fs)
|
rs1603222574
|
|
|
NM_004006.3(DMD):c.8800del (p.Glu2934fs)
|
rs2149253335
|
|
|
NM_004006.3(DMD):c.8817del (p.Gln2940fs)
|
rs1603222424
|
|
|
NM_004006.3(DMD):c.8821G>T (p.Glu2941Ter)
|
rs2067953453
|
|
|
NM_004006.3(DMD):c.8833G>T (p.Glu2945Ter)
|
|
|
|
NM_004006.3(DMD):c.883C>T (p.Arg295Ter)
|
rs727503864
|
|
|
NM_004006.3(DMD):c.883_901dup (p.Tyr301fs)
|
|
|
|
NM_004006.3(DMD):c.8853_8865del (p.Gln2952fs)
|
rs2149252891
|
|
|
NM_004006.3(DMD):c.8859dup (p.Glu2954Ter)
|
|
|
|
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter)
|
rs1556656184
|
|
|
NM_004006.3(DMD):c.8881C>T (p.Gln2961Ter)
|
rs1603222095
|
|
|
NM_004006.3(DMD):c.88del (p.Ser30fs)
|
rs2093885666
|
|
|
NM_004006.3(DMD):c.8912_8913del (p.Leu2971fs)
|
rs398124078
|
|
|
NM_004006.3(DMD):c.8912_8913dup (p.Gln2972fs)
|
rs398124078
|
|
|
NM_004006.3(DMD):c.8914C>T (p.Gln2972Ter)
|
rs1060502633
|
|
|
NM_004006.3(DMD):c.8923del (p.Leu2975fs)
|
rs1603221854
|
|
|
NM_004006.3(DMD):c.8937+1G>C
|
rs1556656077
|
|
|
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)
|
rs128625229
|
|
|
NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter)
|
rs2065154326
|
|
|
NM_004006.3(DMD):c.8970_8971del (p.Asn2991fs)
|
rs863225014
|
|
|
NM_004006.3(DMD):c.8992del (p.Ala2999fs)
|
rs1602938385
|
|
|
NM_004006.3(DMD):c.9014T>A (p.Leu3005Ter)
|
rs2065150560
|
|
|
NM_004006.3(DMD):c.9022C>T (p.Gln3008Ter)
|
rs1602937974
|
|
|
NM_004006.3(DMD):c.903C>A (p.Tyr301Ter)
|
rs2147581521
|
|
|
NM_004006.3(DMD):c.9040dup (p.Leu3014fs)
|
rs1556641290
|
|
|
NM_004006.3(DMD):c.9060del (p.Asn3021fs)
|
|
|
|
NM_004006.3(DMD):c.9085_9086insA (p.Val3029fs)
|
rs1602056443
|
|
|
NM_004006.3(DMD):c.9094G>T (p.Glu3032Ter)
|
rs72466562
|
|
|
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)
|
rs1569530432
|
|
|
NM_004006.3(DMD):c.9109C>T (p.Gln3037Ter)
|
rs2148492200
|
|
|
NM_004006.3(DMD):c.9110del (p.Gln3037fs)
|
|
|
|
NM_004006.3(DMD):c.9147_9148del (p.Gln3050fs)
|
|
|
|
NM_004006.3(DMD):c.9156dup (p.Leu3053fs)
|
rs2148491730
|
|
|
NM_004006.3(DMD):c.9164-1G>T
|
rs398124082
|
|
|
NM_004006.3(DMD):c.9164-2A>G
|
rs2148297581
|
|
|
NM_004006.3(DMD):c.9172C>T (p.Gln3058Ter)
|
|
|
|
NM_004006.3(DMD):c.9173del (p.Gln3058fs)
|
rs2148297423
|
|
|
NM_004006.3(DMD):c.9183G>A (p.Trp3061Ter)
|
rs1556503937
|
|
|
NM_004006.3(DMD):c.9184dup (p.Glu3062fs)
|
|
|
|
NM_004006.3(DMD):c.9189_9190del (p.Arg3063fs)
|
rs1601864055
|
|
|
NM_004006.3(DMD):c.918T>A (p.Tyr306Ter)
|
rs149106712
|
|
|
NM_004006.3(DMD):c.9194_9201del (p.Ile3065fs)
|
rs2148296981
|
|
|
NM_004006.3(DMD):c.9197C>A (p.Ser3066Ter)
|
rs128626254
|
|
|
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs)
|
rs863225015
|
|
|
NM_004006.3(DMD):c.9219_9222del (p.Tyr3072_Tyr3073insTer)
|
rs2056573240
|
|
|
NM_004006.3(DMD):c.9224+1G>A
|
rs1569526122
|
|
|
NM_004006.3(DMD):c.9225-1G>T
|
|
|
|
NM_004006.3(DMD):c.9225-285A>G
|
rs587776747
|
|
|
NM_004006.3(DMD):c.9225-2A>T
|
rs2147649643
|
|
|
NM_004006.3(DMD):c.9225-647A>G
|
rs398124091
|
|
|
NM_004006.3(DMD):c.9238_9241del (p.Thr3080fs)
|
rs1060502624
|
|
|
NM_004006.3(DMD):c.9249G>A (p.Trp3083Ter)
|
rs2147649257
|
|
|
NM_004006.3(DMD):c.9249_9250delinsAC (p.Trp3083_Asp3084delinsTer)
|
|
|
|
NM_004006.3(DMD):c.9268G>T (p.Glu3090Ter)
|
rs2147648996
|
|
|
NM_004006.3(DMD):c.9269_9270del (p.Glu3090fs)
|
rs1603253563
|
|
|
NM_004006.3(DMD):c.9281_9286+2del
|
rs2147648412
|
|
|
NM_004006.3(DMD):c.9283_9284del (p.Leu3095fs)
|
rs2147648529
|
|
|
NM_004006.3(DMD):c.9287-1G>A
|
rs2147071925
|
|
|
NM_004006.3(DMD):c.9287-2A>T
|
rs2147071947
|
|
|
NM_004006.3(DMD):c.93+1G>A
|
rs886042604
|
|
|
NM_004006.3(DMD):c.93+1G>T
|
rs886042604
|
|
|
NM_004006.3(DMD):c.93+2T>A
|
rs1602765856
|
|
|
NM_004006.3(DMD):c.9311C>A (p.Ser3104Ter)
|
rs2147071577
|
|
|
NM_004006.3(DMD):c.9318T>A (p.Tyr3106Ter)
|
|
|
|
NM_004006.3(DMD):c.9324dup (p.Ala3109fs)
|
rs2147071440
|
|
|
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)
|
rs398124092
|
|
|
NM_004006.3(DMD):c.9344del (p.Leu3115fs)
|
rs1602947628
|
|
|
NM_004006.3(DMD):c.9361+1G>A
|
rs398124094
|
|
|
NM_004006.3(DMD):c.9361+1G>C
|
rs398124094
|
|
|
NM_004006.3(DMD):c.9362-1215A>G
|
rs2148603634
|
|
|
NM_004006.3(DMD):c.9362-1G>C
|
rs2148593122
|
|
|
NM_004006.3(DMD):c.9380C>A (p.Ser3127Ter)
|
rs1602730254
|
|
|
NM_004006.3(DMD):c.9398del (p.Leu3133fs)
|
rs2148592682
|
|
|
NM_004006.3(DMD):c.93_93+14del
|
rs1602765633
|
|
|
NM_004006.3(DMD):c.94-1G>T
|
rs863225016
|
|
|
NM_004006.3(DMD):c.94-2A>C
|
rs1603448428
|
|
|
NM_004006.3(DMD):c.9415A>T (p.Lys3139Ter)
|
rs1060502628
|
|
|
NM_004006.3(DMD):c.9432del (p.Met3145fs)
|
rs2044445392
|
|
|
NM_004006.3(DMD):c.9434del (p.Met3145fs)
|
rs1060502648
|
|
|
NM_004006.3(DMD):c.9445C>T (p.Gln3149Ter)
|
rs2148592023
|
|
|
NM_004006.3(DMD):c.9457del (p.Cys3153fs)
|
rs2148591945
|
|
|
NM_004006.3(DMD):c.9468del (p.Ile3157fs)
|
rs1602728959
|
|
|
NM_004006.3(DMD):c.9471_9474del (p.Ile3157fs)
|
rs886039532
|
|
|
NM_004006.3(DMD):c.9487C>T (p.Gln3163Ter)
|
rs2148591514
|
|
|
NM_004006.3(DMD):c.9519_9520del (p.Cys3174fs)
|
rs2148591114
|
|
|
NM_004006.3(DMD):c.9551dup (p.Asn3184fs)
|
rs863225017
|
|
|
NM_004006.3(DMD):c.9557_9558del (p.Val3185_Tyr3186insTer)
|
|
|
|
NM_004006.3(DMD):c.9562dup (p.Thr3188fs)
|
|
|
|
NM_004006.3(DMD):c.9563+1215A>G
|
|
|
|
NM_004006.3(DMD):c.9563+1G>A
|
rs886043989
|
|
|
NM_004006.3(DMD):c.9563+1G>T
|
rs886043989
|
|
|
NM_004006.3(DMD):c.9563+2T>A
|
rs1602727611
|
|
|
NM_004006.3(DMD):c.9564-2A>G
|
rs1602696519
|
|
|
NM_004006.3(DMD):c.9564-30A>G
|
|
|
|
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)
|
rs104894797
|
|
|
NM_004006.3(DMD):c.956C>A (p.Ser319Ter)
|
|
|
|
NM_004006.3(DMD):c.958C>T (p.Gln320Ter)
|
|
|
|
NM_004006.3(DMD):c.9600_9601del (p.Lys3200fs)
|
|
|
|
NM_004006.3(DMD):c.961-1G>A
|
rs1602469384
|
|
|
NM_004006.3(DMD):c.961-1G>C
|
rs1602469384
|
|
|
NM_004006.3(DMD):c.961-2A>G
|
rs2146836134
|
|
|
NM_004006.3(DMD):c.961-5831C>T
|
rs398124099
|
|
|
NM_004006.3(DMD):c.9619_9626del (p.Cys3207fs)
|
|
|
|
NM_004006.3(DMD):c.9621T>A (p.Cys3207Ter)
|
rs1057524037
|
|
|
NM_004006.3(DMD):c.9624del (p.Ala3209fs)
|
rs2148564212
|
|
|
NM_004006.3(DMD):c.9634G>T (p.Glu3212Ter)
|
rs1569463953
|
|
|
NM_004006.3(DMD):c.9634del (p.Glu3212fs)
|
|
|
|
NM_004006.3(DMD):c.9638_9642del (p.Asp3213fs)
|
rs2148564018
|
|
|
NM_004006.3(DMD):c.9645C>G (p.Tyr3215Ter)
|
rs2148563935
|
|
|
NM_004006.3(DMD):c.9647_9648del (p.Arg3216fs)
|
rs2148563899
|
|
|
NM_004006.3(DMD):c.9649+1G>A
|
rs1556256329
|
|
|
NM_004006.3(DMD):c.9649+5G>A
|
|
|
|
NM_004006.3(DMD):c.9649+5G>C
|
rs1602695527
|
|
|
NM_004006.3(DMD):c.9668_9669insG (p.Ser3224fs)
|
rs2148541841
|
|
|
NM_004006.3(DMD):c.9712_9713insA (p.Leu3238fs)
|
|
|
|
NM_004006.3(DMD):c.971del (p.Ala324fs)
|
rs1602469251
|
|
|
NM_004006.3(DMD):c.9730del (p.Ile3244fs)
|
rs1602669026
|
|
|
NM_004006.3(DMD):c.9739C>T (p.Gln3247Ter)
|
rs2148541048
|
|
|
NM_004006.3(DMD):c.9749_9767dup (p.Asn3258fs)
|
rs2148540742
|
|
|
NM_004006.3(DMD):c.9767del (p.Gly3256fs)
|
rs398124103
|
|
|
NM_004006.3(DMD):c.976G>T (p.Glu326Ter)
|
rs2059702093
|
|
|
NM_004006.3(DMD):c.9802del (p.Gln3268fs)
|
rs2148540548
|
|
|
NM_004006.3(DMD):c.9807+1G>A
|
rs1569460610
|
|
|
NM_004006.3(DMD):c.9807+1G>C
|
rs1569460610
|
|
|
NM_004006.3(DMD):c.9807+2T>A
|
|
|
|
NM_004006.3(DMD):c.9807+5G>C
|
rs1569460607
|
|
|
NM_004006.3(DMD):c.9808-1G>A
|
rs2148335739
|
|
|
NM_004006.3(DMD):c.9808-1G>T
|
|
|
|
NM_004006.3(DMD):c.9808-2A>G
|
rs1602456486
|
|
|
NM_004006.3(DMD):c.9808-2A>T
|
rs1602456486
|
|
|
NM_004006.3(DMD):c.9829G>T (p.Glu3277Ter)
|
rs1602456175
|
|
|
NM_004006.3(DMD):c.9851G>A (p.Trp3284Ter)
|
rs398124104
|
|
|
NM_004006.3(DMD):c.9852G>A (p.Trp3284Ter)
|
rs2041309291
|
|
|
NM_004006.3(DMD):c.9853dup (p.Met3285fs)
|
rs2148335170
|
|
|
NM_004006.3(DMD):c.9854_9863del (p.Met3285fs)
|
rs398124105
|
|
|
NM_004006.3(DMD):c.985_991del (p.Ser329fs)
|
|
|
|
NM_004006.3(DMD):c.9868C>T (p.Gln3290Ter)
|
rs2041306808
|
|
|
NM_004006.3(DMD):c.9868del (p.Gln3290fs)
|
rs1602455747
|
|
|
NM_004006.3(DMD):c.9881_9890del (p.Trp3294fs)
|
rs1556046080
|
|
|
NM_004006.3(DMD):c.9884dup (p.Pro3296fs)
|
|
|
|
NM_004006.3(DMD):c.9887_9908del (p.Pro3296fs)
|
rs1602455302
|
|
|
NM_004006.3(DMD):c.9897_9898del (p.His3299fs)
|
rs2041303734
|
|
|
NM_004006.3(DMD):c.9906del (p.Ala3303fs)
|
rs2148334397
|
|
|
NM_004006.3(DMD):c.9913G>T (p.Glu3305Ter)
|
rs2148334279
|
|
|
NM_004006.3(DMD):c.9928C>T (p.Gln3310Ter)
|
rs104894789
|
|
|
NM_004006.3(DMD):c.9938_9941dup (p.Asn3314delinsLysTer)
|
rs863225018
|
|
|
NM_004006.3(DMD):c.9950_9951del (p.Lys3317fs)
|
rs1602454747
|
|
|
NM_004006.3(DMD):c.9974+175T>A
|
rs1602451773
|
|
|
NM_004006.3(DMD):c.9974+2T>A
|
rs2148333619
|
|
|
NM_004006.3(DMD):c.9974+2T>C
|
rs2148333619
|
|
|
NM_004006.3(DMD):c.9974+2T>G
|
|
|
|
NM_004006.3(DMD):c.9975-1G>A
|
rs1556040444
|
|
|
NM_004006.3(DMD):c.9975-1G>T
|
rs1556040444
|
|
|
NM_004006.3(DMD):c.9975-2A>C
|
rs886044502
|
|
|
NM_004006.3(DMD):c.998C>A (p.Ser333Ter)
|
rs1602468968
|
|
|
NM_004006.3(DMD):c.99dup (p.Lys34fs)
|
|
|
|
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)
|
rs398122853
|
|
|
NM_004006.3(DMD):c.[10086+1G>T;10126del]
|
|
|
|
NM_004006.3:c.(1602+1_1603-1)_(6438+1_6439-1)del
|
|
|
|
NM_004130.4(GYG1):c.10C>T (p.Gln4Ter)
|
|
|
|
NM_004130.4(GYG1):c.154G>T (p.Glu52Ter)
|
rs1559834349
|
|
|
NM_004130.4(GYG1):c.221T>A (p.Leu74Ter)
|
|
|
|
NM_004130.4(GYG1):c.26dup (p.Thr10fs)
|
|
|
|
NM_004130.4(GYG1):c.352_353del (p.Glu118fs)
|
|
|
|
NM_004130.4(GYG1):c.384G>A (p.Trp128Ter)
|
|
|
|
NM_004130.4(GYG1):c.487del (p.Asp163fs)
|
rs727502871
|
|
|
NM_004130.4(GYG1):c.490C>T (p.Gln164Ter)
|
|
|
|
NM_004130.4(GYG1):c.646C>T (p.Arg216Ter)
|
|
|
|
NM_004130.4(GYG1):c.683del (p.Thr228fs)
|
|
|
|
NM_004130.4(GYG1):c.749G>A (p.Trp250Ter)
|
rs727502870
|
|
|
NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter)
|
rs1714533252
|
|
|
NM_004130.4(GYG1):c.82C>T (p.Gln28Ter)
|
|
|
|
NM_004130.4(GYG1):c.844_845insG (p.Tyr282Ter)
|
|
|
|
NM_004130.4(GYG1):c.844dup (p.Tyr282fs)
|
|
|
|
NM_004130.4(GYG1):c.93dup (p.Thr32fs)
|
|
|
|
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.1351C>T (p.Arg451Cys)
|
rs1553999752
|
|
|
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.1526C>T (p.Ser509Leu)
|
rs397514541
|
|
|
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.1571C>T (p.Ala524Val)
|
rs137852767
|
|
|
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.1795-1G>T
|
rs778516878
|
|
|
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_004320.6(ATP2A1):c.1465C>T (p.Arg489Ter)
|
|
|
|
NM_004320.6(ATP2A1):c.1575dup (p.Asn526Ter)
|
|
|
|
NM_004320.6(ATP2A1):c.1672_1673dup (p.Leu559fs)
|
rs1433893346
|
|
|
NM_004320.6(ATP2A1):c.1712del (p.Pro571fs)
|
|
|
|
NM_004320.6(ATP2A1):c.1712dup (p.Lys572fs)
|
|
|
|
NM_004320.6(ATP2A1):c.1742_1743del (p.Ser581fs)
|
rs1421005631
|
|
|
NM_004320.6(ATP2A1):c.178del (p.Leu60fs)
|
rs2152196826
|
|
|
NM_004320.6(ATP2A1):c.1912C>T (p.Arg638Ter)
|
|
|
|
NM_004320.6(ATP2A1):c.1966C>T (p.Arg656Ter)
|
rs559067146
|
|
|
NM_004320.6(ATP2A1):c.200T>G (p.Leu67Arg)
|
rs2152196866
|
|
|
NM_004320.6(ATP2A1):c.2011C>T (p.Arg671Ter)
|
rs1555516994
|
|
|
NM_004320.6(ATP2A1):c.2056_2057del (p.Lys686fs)
|
rs2152213646
|
|
|
NM_004320.6(ATP2A1):c.219+1G>C
|
rs1963393226
|
|
|
NM_004320.6(ATP2A1):c.2311G>T (p.Glu771Ter)
|
rs972494690
|
|
|
NM_004320.6(ATP2A1):c.2366C>T (p.Pro789Leu)
|
rs121918115
|
|
|
NM_004320.6(ATP2A1):c.2464del (p.Arg822fs)
|
rs751365374
|
|
|
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs)
|
rs751365374
|
|
|
NM_004320.6(ATP2A1):c.2574C>G (p.Tyr858Ter)
|
rs368234110
|
|
|
NM_004320.6(ATP2A1):c.2615_2618del (p.His872fs)
|
rs1964119065
|
|
|
NM_004320.6(ATP2A1):c.2664_2665del (p.Cys888_Glu889delinsTer)
|
|
|
|
NM_004320.6(ATP2A1):c.2944G>A (p.Glu982Lys)
|
rs538702357
|
|
|
NM_004320.6(ATP2A1):c.440del (p.Pro147fs)
|
rs748241465
|
|
|
NM_004320.6(ATP2A1):c.57_60del (p.Ser19fs)
|
rs770239154
|
|
|
NM_004320.6(ATP2A1):c.592del (p.Arg198fs)
|
rs1187948767
|
|
|
NM_004320.6(ATP2A1):c.610A>T (p.Lys204Ter)
|
|
|
|
NM_004320.6(ATP2A1):c.888dup (p.Lys297Ter)
|
rs759847914
|
|
|
NM_004320.6(ATP2A1):c.902_903insSVAelement
|
|
|
|
NM_004320.6(ATP2A1):c.909_920delinsACGGCATA (p.Val304fs)
|
rs1555515558
|
|
|
NM_004369.4(COL6A3):c.1234C>T (p.Gln412Ter)
|
|
|
|
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter)
|
rs121434554
|
|
|
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.1840C>T (p.Gln614Ter)
|
rs1574724863
|
|
|
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.4789C>T (p.Arg1597Ter)
|
|
|
|
NM_004369.4(COL6A3):c.4899del (p.Glu1634fs)
|
rs2077607833
|
|
|
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)
|
rs121434553
|
|
|
NM_004369.4(COL6A3):c.5177T>G (p.Leu1726Arg)
|
rs121434555
|
|
|
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.6156+1_6156+2delinsTC
|
|
|
|
NM_004369.4(COL6A3):c.6156G>T (p.Lys2052Asn)
|
rs398124125
|
|
|
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
|
|
|
|
NM_004369.4(COL6A3):c.6181C>T (p.Arg2061Ter)
|
rs797045479
|
|
|
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.6283-2A>G
|
rs797044988
|
|
|
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.6460C>T (p.Arg2154Ter)
|
|
|
|
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.7382del (p.Ala2461fs)
|
rs2106324972
|
|
|
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.7720del (p.Leu2574fs)
|
rs1574942920
|
|
|
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.8481del (p.Leu2828fs)
|
rs2106317762
|
|
|
NM_004369.4(COL6A3):c.8540del (p.Asn2847fs)
|
|
|
|
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.1488dup (p.Phe497fs)
|
rs1582196903
|
|
|
NM_004370.6(COL12A1):c.2252T>G (p.Leu751Ter)
|
|
|
|
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.8319+1G>T
|
|
|
|
NM_004370.6(COL12A1):c.8329G>C (p.Gly2777Arg)
|
|
|
|
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp)
|
rs796052094
|
|
|
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_004393.6(DAG1):c.2006G>T (p.Cys669Phe)
|
rs797045023
|
|
|
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter)
|
rs1334656238
|
|
|
NM_004393.6(DAG1):c.285+1G>A
|
rs2050744878
|
|
|
NM_004393.6(DAG1):c.330G>A (p.Trp110Ter)
|
rs2051320206
|
|
|
NM_004393.6(DAG1):c.41C>A (p.Ser14Ter)
|
rs2131107
|
|
|
NM_004393.6(DAG1):c.440del (p.Gln147fs)
|
rs1553652503
|
|
|
NM_004393.6(DAG1):c.575C>T (p.Thr192Met)
|
rs193922955
|
|
|
NM_004393.6(DAG1):c.743del (p.Ala248fs)
|
rs869320680
|
|
|
NM_004409.4(DMPK):c.*224CTG[146]
|
|
|
|
NM_004409.4(DMPK):c.*224CTG[1502]
|
|
|
|
NM_004409.4(DMPK):c.*224CTG[1681]
|
|
|
|
NM_004409.4:c.*224_*283CTG[(192_602)]CCG[1]CTG[8]CCG[2]CTG[2]CCG[1]CTG[4]CCG[1]CTG[30]
|
|
|
|
NM_004409.4:c.*224_*283CTG[(271_852)]CCG[1]CTG[17]CCG[1]CTG[29]
|
|
|
|
NM_004409.4:c.*224_*283CTG[(510_860)]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[2]CCG[3]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[18]
|
|
|
|
NM_004409.4:c.*224_*283CTG[329]NNN[(?)]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[18]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[100]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[102]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[103]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[105]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[107]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[1080]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[110]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[1140]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[1142]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[117]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[1189]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[122]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[1236]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[123]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[124]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[127]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[130]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[131]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[132]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[134]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[135]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[142]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[158]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[160]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[168]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[169]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[175]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[180]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[181]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[182]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[194]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[195]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[197]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[214]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[216]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[225]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[229]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[230]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[232]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[235]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[236]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[238]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[241]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[255]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[256]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[260]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[261]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[264]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[265]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[271]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[280]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[281]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[288]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[303]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[307]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[313]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[318]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[31]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[327]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[32]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[330]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[333]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[339]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[33]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[345]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[347]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[34]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[351]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[352]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[353]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[354]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[35]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[364]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[36]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[371]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[372]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[373]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[375]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[376]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[377]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[37]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[383]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[38]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[391]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[395]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[397]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[398]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[39]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[407]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[40]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[41]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[421]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[42]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[435]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[436]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[437]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[43]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[440]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[448]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[449]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[44]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[455]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[45]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[461]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[462]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[46]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[47]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[482]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[490]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[496]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[49]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[501]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[505]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[508]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[50]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[513]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[51]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[52]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[536]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[539]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[53]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[541]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[542]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[54]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[55]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[562]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[563]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[56]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[57]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[583]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[586]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[58]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[593]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[594]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[597]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[59]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[609]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[60]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[614]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[61]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[62]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[640]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[64]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[65]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[666]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[688]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[68]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[69]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[71]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[721]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[72]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[73]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[74]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[758]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[75]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[76]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[780]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[80]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[814]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[816]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[823]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[82]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[83]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[84]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[86]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[887]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[88]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[90]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[92]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[93]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[96]
|
|
|
|
NM_004409.5(DMPK):c.*224CTG[98]
|
|
|
|
NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del)
|
rs1841455410
|
|
|
NM_004614.5(TK2):c.547C>T (p.Arg183Trp)
|
rs137886900
|
|
|
NM_004618.5(TOP3A):c.614A>G (p.Asp205Gly)
|
|
|
|
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)
|
rs193922941
|
|
|
NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla)
|
rs193922941
|
|
|
NM_004643.3:c.3GGC[(8_13)]
|
rs193922941
|
|
|
NM_004643.4(PABPN1):c.15_26dup (p.Ala11_Gly12insAlaAlaAlaAla)
|
rs1594987281
|
|
|
NM_004643.4(PABPN1):c.18_26dup (p.Ala11_Gly12insAlaAlaAla)
|
rs1888252890
|
|
|
NM_004643.4(PABPN1):c.21_26dup (p.Ala11_Gly12insAlaAla)
|
|
|
|
NM_004643.4(PABPN1):c.24AGC[4] (p.Ala11_Gly12insAla)
|
rs1401656265
|
|
|
NM_004643.4(PABPN1):c.35G>C (p.Gly12Ala)
|
rs104894466
|
|
|
NM_004643.4(PABPN1):c.3GGC[12] (p.Ala11_Gly12insAlaAlaAlaAlaAla)
|
rs193922941
|
|
|
NM_004643.4(PABPN1):c.3GGC[8] (p.Ala11_Gly12insAla)
|
rs193922941
|
|
|
NM_004643.4(PABPN1):c.3_23= (p.Met1_Ala8=)
|
rs193922941
|
|
|
NM_005032.7(PLS3):c.1054T>C (p.Phe352Leu)
|
rs2147577404
|
|
|
NM_005032.7(PLS3):c.1497G>C (p.Trp499Cys)
|
|
|
|
NM_005032.7(PLS3):c.1774A>G (p.Met592Val)
|
|
|
|
NM_005032.7(PLS3):c.617C>T (p.Ala206Val)
|
rs2147551760
|
|
|
NM_005032.7(PLS3):c.808G>A (p.Glu270Lys)
|
|
|
|
NM_005087.4(FXR1):c.1603+725dup
|
|
|
|
NM_005087.4(FXR1):c.1603+733del
|
rs769011065
|
|
|
NM_005087.4(FXR1):c.1603+733dup
|
|
|
|
NM_005087.4(FXR1):c.1603+790_1603+793del
|
rs1577005361
|
|
|
NM_005138.3(SCO2):c.107G>A (p.Trp36Ter)
|
rs121908508
|
|
|
NM_005138.3(SCO2):c.179_188dup (p.Ile63fs)
|
rs1467767014
|
|
|
NM_005138.3(SCO2):c.227_230del (p.Leu76fs)
|
|
|
|
NM_005138.3(SCO2):c.256C>T (p.Gln86Ter)
|
rs2069218741
|
|
|
NM_005138.3(SCO2):c.2T>C (p.Met1Thr)
|
rs1603441682
|
|
|
NM_005138.3(SCO2):c.398G>A (p.Cys133Tyr)
|
rs28937868
|
|
|
NM_005138.3(SCO2):c.401_402del (p.Pro134fs)
|
|
|
|
NM_005138.3(SCO2):c.544C>T (p.Gln182Ter)
|
|
|
|
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
|
|
|
|
NM_005138.3(SCO2):c.674C>T (p.Ser225Phe)
|
rs80358232
|
|
|
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val)
|
rs104894269
|
|
|
NM_005169.4(PHOX2A):c.217+1G>A
|
rs1590729541
|
|
|
NM_005169.4(PHOX2A):c.406-1G>A
|
rs1178102382
|
|
|
NM_005198.5(CHKB):c.1003G>T (p.Glu335Ter)
|
rs2146652075
|
|
|
NM_005198.5(CHKB):c.1129C>T (p.Arg377Trp)
|
rs766848672
|
|
|
NM_005198.5(CHKB):c.116C>A (p.Ser39Ter)
|
rs387907068
|
|
|
NM_005198.5(CHKB):c.163G>T (p.Glu55Ter)
|
rs1045370021
|
|
|
NM_005198.5(CHKB):c.187C>T (p.Arg63Ter)
|
|
|
|
NM_005198.5(CHKB):c.216C>G (p.Tyr72Ter)
|
rs80067609
|
|
|
NM_005198.5(CHKB):c.224+1G>A
|
|
|
|
NM_005198.5(CHKB):c.268del (p.His90fs)
|
rs1569054508
|
|
|
NM_005198.5(CHKB):c.331C>T (p.Gln111Ter)
|
|
|
|
NM_005198.5(CHKB):c.382G>T (p.Glu128Ter)
|
rs1569054086
|
|
|
NM_005198.5(CHKB):c.400C>T (p.Gln134Ter)
|
rs1333100080
|
|
|
NM_005198.5(CHKB):c.446del (p.Pro149fs)
|
|
|
|
NM_005198.5(CHKB):c.458dup (p.Leu153fs)
|
rs786205117
|
|
|
NM_005198.5(CHKB):c.463del (p.Thr155fs)
|
rs2146656234
|
|
|
NM_005198.5(CHKB):c.536del (p.Met179fs)
|
|
|
|
NM_005198.5(CHKB):c.556del (p.His186fs)
|
|
|
|
NM_005198.5(CHKB):c.565_568del (p.Phe189fs)
|
rs752436924
|
|
|
NM_005198.5(CHKB):c.598del (p.Gln200fs)
|
rs757369551
|
|
|
NM_005198.5(CHKB):c.677+1G>A
|
rs786205118
|
|
|
NM_005198.5(CHKB):c.677+1G>C
|
|
|
|
NM_005198.5(CHKB):c.737-1G>C
|
rs2146653379
|
|
|
NM_005198.5(CHKB):c.808_809insC (p.Tyr270fs)
|
rs2146653193
|
|
|
NM_005198.5(CHKB):c.810T>A (p.Tyr270Ter)
|
rs750764003
|
|
|
NM_005198.5(CHKB):c.922C>T (p.Gln308Ter)
|
rs387907069
|
|
|
NM_005198.5(CHKB):c.925C>T (p.Gln309Ter)
|
rs139059552
|
|
|
NM_005198.5(CHKB):c.939del (p.Arg314fs)
|
|
|
|
NM_005198.5(CHKB):c.964_967del (p.Lys322fs)
|
rs771681297
|
|
|
NM_005257.6(GATA6):c.1072del (p.Val358fs)
|
rs1555628863
|
|
|
NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys)
|
rs387906818
|
|
|
NM_005257.6(GATA6):c.712G>T (p.Gly238Ter)
|
rs587777710
|
|
|
NM_005262.3(GFER):c.217del (p.Ala73fs)
|
rs1555486560
|
|
|
NM_005262.3(GFER):c.219del (p.Cys74fs)
|
rs1597063051
|
|
|
NM_005262.3(GFER):c.259-25_259-24del
|
rs1597063303
|
|
|
NM_005368.3(MB):c.292C>T (p.His98Tyr)
|
rs1601842249
|
|
|
NM_005476.7(GNE):c.1018C>T (p.Gln340Ter)
|
rs983424324
|
|
|
NM_005476.7(GNE):c.1045_1046insAAACTGCACC (p.Leu349fs)
|
rs1829026390
|
|
|
NM_005476.7(GNE):c.1048C>T (p.Gln350Ter)
|
rs1276168825
|
|
|
NM_005476.7(GNE):c.1060C>T (p.Gln354Ter)
|
|
|
|
NM_005476.7(GNE):c.1112del (p.Ile370_Leu371insTer)
|
rs2133042191
|
|
|
NM_005476.7(GNE):c.1139_1140insTAGCCTATAATTTAACTTTGACAAAGTTATGAAATGGTTTTTCTAATACCTTTTTGAAAAAGTCATGGAGGCCATGGGGTTGGCTTGAAACCAGCTTTGGGGGGTTCGATTCCTTCCTTTTTTGTCTAGATTTTATGTATACGGGTTCTTCGAATGTGTGGTTCA (p.Gln380delinsHisSerLeuTer)
|
|
|
|
NM_005476.7(GNE):c.1220dup (p.Ser408fs)
|
rs2133041569
|
|
|
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)
|
rs786204558
|
|
|
NM_005476.7(GNE):c.1379C>T (p.Ala460Val)
|
rs121908631
|
|
|
NM_005476.7(GNE):c.1417del (p.Ser473fs)
|
rs1057516965
|
|
|
NM_005476.7(GNE):c.1468A>T (p.Lys490Ter)
|
rs1554658955
|
|
|
NM_005476.7(GNE):c.1501_1529del (p.Arg501fs)
|
rs1554658924
|
|
|
NM_005476.7(GNE):c.1510dup (p.Leu504fs)
|
rs1828669338
|
|
|
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)
|
|
|
|
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
|
|
|
|
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs)
|
rs1057516657
|
|
|
NM_005476.7(GNE):c.1546_1547del (p.Asp515_Asn516insTer)
|
rs1828665576
|
|
|
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)
|
rs764698870
|
|
|
NM_005476.7(GNE):c.1643del (p.Gly548fs)
|
rs2133007268
|
|
|
NM_005476.7(GNE):c.1686del (p.Cys563fs)
|
rs886044449
|
|
|
NM_005476.7(GNE):c.1690del (p.Ala564fs)
|
rs2133007032
|
|
|
NM_005476.7(GNE):c.1740del (p.Cys581fs)
|
rs1554658453
|
|
|
NM_005476.7(GNE):c.174_177dup (p.Met60fs)
|
rs2133114222
|
|
|
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter)
|
rs111302956
|
|
|
NM_005476.7(GNE):c.1789C>T (p.Gln597Ter)
|
rs2133006228
|
|
|
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs)
|
rs1436850036
|
|
|
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)
|
rs387906347
|
|
|
NM_005476.7(GNE):c.1816+5G>A
|
rs2133005844
|
|
|
NM_005476.7(GNE):c.182_185del (p.Ile61fs)
|
|
|
|
NM_005476.7(GNE):c.1888G>A (p.Ala630Thr)
|
|
|
|
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter)
|
rs886042195
|
|
|
NM_005476.7(GNE):c.1926_1927insCGGCCCAGAGCATCCTA (p.Arg643_Thr644insProArgAlaSerTer)
|
|
|
|
NM_005476.7(GNE):c.1933+1G>C
|
|
|
|
NM_005476.7(GNE):c.1973del (p.His658fs)
|
|
|
|
NM_005476.7(GNE):c.1990del (p.Leu664_Val665insTer)
|
|
|
|
NM_005476.7(GNE):c.2005_2011del (p.Gly669fs)
|
rs2132993345
|
|
|
NM_005476.7(GNE):c.2025T>A (p.Tyr675Ter)
|
|
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
|
NM_005476.7(GNE):c.2135del (p.Met712fs)
|
|
|
|
NM_005476.7(GNE):c.221_222del (p.Thr74fs)
|
rs2133113896
|
|
|
NM_005476.7(GNE):c.22C>T (p.Arg8Ter)
|
rs766420673
|
|
|
NM_005476.7(GNE):c.31C>T (p.Arg11Trp)
|
rs769716748
|
|
|
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)
|
rs372872777
|
|
|
NM_005476.7(GNE):c.386G>A (p.Arg129Gln)
|
rs748704459
|
|
|
NM_005476.7(GNE):c.388del (p.Ile130fs)
|
rs1423445315
|
|
|
NM_005476.7(GNE):c.38G>C (p.Cys13Ser)
|
rs1209266607
|
|
|
NM_005476.7(GNE):c.397_398dup (p.Glu134fs)
|
rs1829869628
|
|
|
NM_005476.7(GNE):c.454_616+70delinsTAG
|
rs2133111012
|
|
|
NM_005476.7(GNE):c.470_471del (p.His157fs)
|
rs1554663368
|
|
|
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)
|
rs769215411
|
|
|
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)
|
rs886044514
|
|
|
NM_005476.7(GNE):c.511A>G (p.Met171Val)
|
rs121908634
|
|
|
NM_005476.7(GNE):c.540_553del (p.Leu180fs)
|
|
|
|
NM_005476.7(GNE):c.556T>C (p.Tyr186His)
|
|
|
|
NM_005476.7(GNE):c.5A>G (p.Glu2Gly)
|
rs1830025657
|
|
|
NM_005476.7(GNE):c.601_604dup (p.Arg202fs)
|
rs886042120
|
|
|
NM_005476.7(GNE):c.620ATG[1] (p.Asp208del)
|
rs1554661574
|
|
|
NM_005476.7(GNE):c.636dup (p.Asp213fs)
|
rs1057517094
|
|
|
NM_005476.7(GNE):c.655C>T (p.Gln219Ter)
|
rs1057516906
|
|
|
NM_005476.7(GNE):c.680dup (p.His228fs)
|
rs1554661552
|
|
|
NM_005476.7(GNE):c.694del (p.Met232fs)
|
rs1554661549
|
|
|
NM_005476.7(GNE):c.711G>A (p.Leu237=)
|
rs724159957
|
|
|
NM_005476.7(GNE):c.712del (p.Asp238fs)
|
|
|
|
NM_005476.7(GNE):c.723_727del (p.Ile241_Ser242insTer)
|
rs2133078032
|
|
|
NM_005476.7(GNE):c.769+4A>G
|
rs886063926
|
|
|
NM_005476.7(GNE):c.787C>T (p.Arg263Ter)
|
rs200643106
|
|
|
NM_005476.7(GNE):c.797G>A (p.Arg266Gln)
|
rs121908622
|
|
|
NM_005476.7(GNE):c.798del (p.Lys267fs)
|
|
|
|
NM_005476.7(GNE):c.79C>T (p.Pro27Ser)
|
rs1554664064
|
|
|
NM_005476.7(GNE):c.827T>G (p.Phe276Cys)
|
|
|
|
NM_005476.7(GNE):c.856C>T (p.Gln286Ter)
|
rs1057516746
|
|
|
NM_005476.7(GNE):c.865C>T (p.Gln289Ter)
|
|
|
|
NM_005476.7(GNE):c.869T>A (p.Leu290Ter)
|
|
|
|
NM_005476.7(GNE):c.907_908delinsGT (p.Cys303Val)
|
rs121908633
|
|
|
NM_005476.7(GNE):c.909T>A (p.Cys303Ter)
|
rs121908628
|
|
|
NM_005476.7(GNE):c.952_953del (p.Leu318fs)
|
rs2133068002
|
|
|
NM_005476.7(GNE):c.997dup (p.His333fs)
|
rs2133049724
|
|
|
NM_005476.7(GNE):c.[2086G>A];[385C>T]
|
|
|
|
NM_005716.4:c.-211GGC[(73_?)]
|
|
|
|
NM_005868.6(BET1):c.202G>C (p.Asp68His)
|
rs1562806584
|
|
|
NM_005876.5(SPEG):c.2915_2916delinsA (p.Ala972fs)
|
rs587777675
|
|
|
NM_005876.5(SPEG):c.3709_3715+29del
|
rs587777674
|
|
|
NM_005876.5(SPEG):c.4276C>T (p.Arg1426Ter)
|
rs587777673
|
|
|
NM_005876.5(SPEG):c.4360_4375del (p.Val1454fs)
|
|
|
|
NM_005876.5(SPEG):c.6618dup (p.Ala2207fs)
|
|
|
|
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter)
|
rs587777672
|
|
|
NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val)
|
rs587777676
|
|
|
NM_005876.5(SPEG):c.8839C>T (p.Arg2947Ter)
|
rs768300296
|
|
|
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
|
|
|
|
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs)
|
rs1575201712
|
|
|
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)
|
rs587784483
|
|
|
NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp)
|
rs1942163977
|
|
|
NM_006063.3(KLHL41):c.1044T>G (p.Tyr348Ter)
|
|
|
|
NM_006063.3(KLHL41):c.1238C>T (p.Ser413Leu)
|
rs730882260
|
|
|
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.1748_1755del (p.Lys583fs)
|
rs730882258
|
|
|
NM_006063.3(KLHL41):c.215del (p.Lys72fs)
|
rs775513051
|
|
|
NM_006063.3(KLHL41):c.215dup (p.Glu73fs)
|
rs775513051
|
|
|
NM_006063.3(KLHL41):c.459delinsACTC (p.Ser153_Ala154insLeu)
|
rs730882257
|
|
|
NM_006063.3(KLHL41):c.468dup (p.Phe157fs)
|
|
|
|
NM_006063.3(KLHL41):c.575AAG[2] (p.Glu194del)
|
rs730882259
|
|
|
NM_006063.3(KLHL41):c.641del (p.Asn214fs)
|
rs730882235
|
|
|
NM_006063.3(KLHL41):c.756_757insT (p.Lys253Ter)
|
|
|
|
NM_006063.3(KLHL41):c.930_939del (p.Asn310fs)
|
rs1574349645
|
|
|
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys)
|
rs864321717
|
|
|
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)
|
rs267607165
|
|
|
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn)
|
rs267607164
|
|
|
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His)
|
rs267607164
|
|
|
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys)
|
rs267607162
|
|
|
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)
|
rs864321716
|
|
|
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr)
|
rs267607163
|
|
|
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)
|
rs1057519942
|
|
|
NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]
|
|
|
|
NM_006731.2:c.911-24_911-23insN[1200]
|
|
|
|
NM_006767.4(LZTR1):c.495G>A (p.Trp165Ter)
|
|
|
|
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_006790.3(MYOT):c.284G>T (p.Ser95Ile)
|
rs121908460
|
|
|
NM_006876.2(B4GAT1):[c.1168A>G;c.1217C>T]
|
|
|
|
NM_006876.3(B4GAT1):c.1207G>T (p.Glu403Ter)
|
rs921785357
|
|
|
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs)
|
rs730882237
|
|
|
NM_006876.3(B4GAT1):c.864T>A (p.Tyr288Ter)
|
|
|
|
NM_006892.4(DNMT3B):c.1579T>C (p.Cys527Arg)
|
rs2146029958
|
|
|
NM_007034.5(DNAJB4):c.181A>G (p.Arg61Gly)
|
|
|
|
NM_007034.5(DNAJB4):c.74G>A (p.Arg25Gln)
|
|
|
|
NM_007034.5(DNAJB4):c.785T>C (p.Leu262Ser)
|
|
|
|
NM_007034.5(DNAJB4):c.856A>T (p.Lys286Ter)
|
|
|
|
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_007126.5(VCP):c.271A>T (p.Asn91Tyr)
|
rs863225291
|
|
|
NM_007126.5(VCP):c.277C>T (p.Arg93Cys)
|
rs1554669087
|
|
|
NM_007126.5(VCP):c.283C>G (p.Arg95Gly)
|
rs121909332
|
|
|
NM_007126.5(VCP):c.283C>T (p.Arg95Cys)
|
rs121909332
|
|
|
NM_007126.5(VCP):c.290G>A (p.Gly97Glu)
|
rs864309502
|
|
|
NM_007126.5(VCP):c.463C>A (p.Arg155Ser)
|
rs121909330
|
|
|
NM_007126.5(VCP):c.463C>T (p.Arg155Cys)
|
rs121909330
|
|
|
NM_007126.5(VCP):c.464G>A (p.Arg155His)
|
rs121909329
|
|
|
NM_007126.5(VCP):c.464G>C (p.Arg155Pro)
|
rs121909329
|
|
|
NM_007126.5(VCP):c.466G>A (p.Gly156Ser)
|
|
|
|
NM_007126.5(VCP):c.469G>A (p.Gly157Arg)
|
rs1554668814
|
|
|
NM_007126.5(VCP):c.472A>G (p.Met158Val)
|
rs1554668813
|
|
|
NM_007126.5(VCP):c.475C>T (p.Arg159Cys)
|
rs387906789
|
|
|
NM_007126.5(VCP):c.478G>C (p.Ala160Pro)
|
rs1554668805
|
|
|
NM_007126.5(VCP):c.572G>C (p.Arg191Pro)
|
rs121909334
|
|
|
NM_007126.5(VCP):c.695C>A (p.Ala232Glu)
|
rs121909331
|
|
|
NM_007171.4(POMT1):c.429_430del
|
|
|
|
NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu)
|
rs104894632
|
|
|
NM_007215.4(POLG2):c.1423_1424del (p.Leu475fs)
|
rs1568079613
|
|
|
NM_007215.4(POLG2):c.614C>G (p.Pro205Arg)
|
rs397514659
|
|
|
NM_007215.4(POLG2):c.729_730del (p.Pro244fs)
|
|
|
|
NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs)
|
rs1814012663
|
|
|
NM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala)
|
rs121908604
|
|
|
NM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter)
|
|
|
|
NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs)
|
rs1813907455
|
|
|
NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter)
|
rs747266069
|
|
|
NM_012210.4(TRIM32):c.1560del (p.Cys521fs)
|
rs1588218453
|
|
|
NM_012210.4(TRIM32):c.1603del (p.Leu535fs)
|
rs2132075382
|
|
|
NM_012470.4(TNPO3):c.163C>T (p.Gln55Ter)
|
rs1804050408
|
|
|
NM_012470.4(TNPO3):c.2453G>C (p.Arg818Pro)
|
rs587777431
|
|
|
NM_012470.4(TNPO3):c.2771del (p.Ter924CysextTer?)
|
rs587777430
|
|
|
NM_013382.5(POMT2):c.1170_1171del
|
rs764210532
|
|
|
NM_013382.7(POMT2):c.1034_1035del (p.Val345fs)
|
rs1890825132
|
|
|
NM_013382.7(POMT2):c.1046_1052del (p.Arg349fs)
|
|
|
|
NM_013382.7(POMT2):c.1051del (p.Ala351fs)
|
|
|
|
NM_013382.7(POMT2):c.1117G>T (p.Val373Phe)
|
rs267606965
|
|
|
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs)
|
rs886042401
|
|
|
NM_013382.7(POMT2):c.1130T>A (p.Leu377Ter)
|
|
|
|
NM_013382.7(POMT2):c.1158dup (p.Ile387fs)
|
|
|
|
NM_013382.7(POMT2):c.118_119del (p.Arg40fs)
|
|
|
|
NM_013382.7(POMT2):c.1243G>T (p.Glu415Ter)
|
|
|
|
NM_013382.7(POMT2):c.1261del (p.Arg421fs)
|
rs587777815
|
|
|
NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)
|
|
|
|
NM_013382.7(POMT2):c.1293dup (p.Met432fs)
|
rs1555352706
|
|
|
NM_013382.7(POMT2):c.1300del (p.Arg434fs)
|
rs2140188352
|
|
|
NM_013382.7(POMT2):c.1311T>G (p.Tyr437Ter)
|
|
|
|
NM_013382.7(POMT2):c.1333-14G>A
|
rs918556979
|
|
|
NM_013382.7(POMT2):c.139_145del (p.Trp47fs)
|
|
|
|
NM_013382.7(POMT2):c.1412_1413dup (p.Ser472fs)
|
|
|
|
NM_013382.7(POMT2):c.1413_1414del (p.Arg473fs)
|
|
|
|
NM_013382.7(POMT2):c.1445G>T (p.Gly482Val)
|
rs267606968
|
|
|
NM_013382.7(POMT2):c.1495C>T (p.Gln499Ter)
|
|
|
|
NM_013382.7(POMT2):c.1555G>T (p.Glu519Ter)
|
rs1379963762
|
|
|
NM_013382.7(POMT2):c.1577-5_1577-1delinsTGA
|
rs797045898
|
|
|
NM_013382.7(POMT2):c.1577T>A (p.Leu526Ter)
|
|
|
|
NM_013382.7(POMT2):c.1658dup (p.Asn553fs)
|
rs886043110
|
|
|
NM_013382.7(POMT2):c.1661del (p.Ser554fs)
|
|
|
|
NM_013382.7(POMT2):c.1712dup (p.Ile572fs)
|
rs780725241
|
|
|
NM_013382.7(POMT2):c.1740_1741del (p.Val582fs)
|
|
|
|
NM_013382.7(POMT2):c.1754_1755del (p.Thr585fs)
|
rs1555351894
|
|
|
NM_013382.7(POMT2):c.1768dup (p.Tyr590fs)
|
|
|
|
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter)
|
rs1566644018
|
|
|
NM_013382.7(POMT2):c.1911_1912delinsGT (p.Arg638Ter)
|
|
|
|
NM_013382.7(POMT2):c.1927_1943del (p.Val643fs)
|
|
|
|
NM_013382.7(POMT2):c.1941G>A (p.Trp647Ter)
|
rs267606963
|
|
|
NM_013382.7(POMT2):c.1967del (p.Leu656fs)
|
|
|
|
NM_013382.7(POMT2):c.1981del (p.Leu661fs)
|
|
|
|
NM_013382.7(POMT2):c.2021dup (p.Ser674fs)
|
|
|
|
NM_013382.7(POMT2):c.2064T>A (p.Cys688Ter)
|
|
|
|
NM_013382.7(POMT2):c.2147+1G>A
|
|
|
|
NM_013382.7(POMT2):c.2177G>A (p.Gly726Glu)
|
rs267606969
|
|
|
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter)
|
rs1452558347
|
|
|
NM_013382.7(POMT2):c.2197del (p.Gln733fs)
|
rs1292248431
|
|
|
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg)
|
rs267606964
|
|
|
NM_013382.7(POMT2):c.2243G>C (p.Trp748Ser)
|
rs267606967
|
|
|
NM_013382.7(POMT2):c.227T>A (p.Leu76Ter)
|
|
|
|
NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)
|
|
|
|
NM_013382.7(POMT2):c.333+1G>A
|
|
|
|
NM_013382.7(POMT2):c.383del (p.Leu128fs)
|
|
|
|
NM_013382.7(POMT2):c.435_438dup (p.Phe147fs)
|
|
|
|
NM_013382.7(POMT2):c.524_533del (p.Leu175fs)
|
|
|
|
NM_013382.7(POMT2):c.648C>A (p.Cys216Ter)
|
rs147871747
|
|
|
NM_013382.7(POMT2):c.672del (p.Trp225fs)
|
rs1566656247
|
|
|
NM_013382.7(POMT2):c.673del (p.Trp225fs)
|
rs1594796439
|
|
|
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter)
|
rs778947923
|
|
|
NM_013382.7(POMT2):c.678del (p.Trp226fs)
|
rs755660222
|
|
|
NM_013382.7(POMT2):c.70dup (p.Gln24fs)
|
|
|
|
NM_013382.7(POMT2):c.737G>A (p.Gly246Asp)
|
rs267606966
|
|
|
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
|
|
|
|
NM_013382.7(POMT2):c.791del (p.Leu264fs)
|
rs1891020302
|
|
|
NM_013382.7(POMT2):c.816+1G>T
|
|
|
|
NM_013382.7(POMT2):c.824_825del (p.Val275fs)
|
|
|
|
NM_013382.7(POMT2):c.879_880del (p.Thr295fs)
|
rs752440109
|
|
|
NM_013382.7(POMT2):c.924-2A>C
|
rs886044256
|
|
|
NM_013382.7(POMT2):c.924-2A>G
|
rs886044256
|
|
|
NM_013437.5:c.-102CGG[(90_?)]
|
|
|
|
NM_014009.4(FOXP3):c.116_122dup (p.Gly43fs)
|
|
|
|
NM_014241.4(HACD1):c.355C>T (p.Gln119Ter)
|
|
|
|
NM_014241.4(HACD1):c.373_375+2del
|
rs1426156076
|
|
|
NM_014241.4(HACD1):c.458G>A (p.Trp153Ter)
|
|
|
|
NM_014241.4(HACD1):c.744C>A (p.Tyr248Ter)
|
rs606231257
|
|
|
NM_014241.4(HACD1):c.785-1G>T
|
|
|
|
NM_014241.4:c.739_740delinsN[1250]
|
|
|
|
NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu)
|
rs397514544
|
|
|
NM_014254.3(RXYLT1):c.139del (p.Ala47fs)
|
rs397514696
|
|
|
NM_014254.3(RXYLT1):c.169+2T>C
|
|
|
|
NM_014254.3(RXYLT1):c.279del (p.Gly94fs)
|
rs397514546
|
|
|
NM_014332.3(SMPX):c.233G>A (p.Ser78Asn)
|
rs2147387003
|
|
|
NM_014332.3(SMPX):c.38C>T (p.Ala13Val)
|
rs2147396459
|
|
|
NM_014332.3(SMPX):c.79C>G (p.Pro27Ala)
|
rs2147390527
|
|
|
NM_014365.3(HSPB8):c.508_509del (p.Gln170fs)
|
|
|
|
NM_014370.4(SRPK3):c.203_204del (p.Pro68fs)
|
|
|
|
NM_015295.3(SMCHD1):c.1030C>T (p.Arg344Ter)
|
rs886041918
|
|
|
NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter)
|
rs377471712
|
|
|
NM_015295.3(SMCHD1):c.1199del (p.Gln400fs)
|
|
|
|
NM_015295.3(SMCHD1):c.1282del (p.Arg428fs)
|
rs2143155004
|
|
|
NM_015295.3(SMCHD1):c.1302_1306del (p.Tyr434_Arg436delinsTer)
|
rs387907319
|
|
|
NM_015295.3(SMCHD1):c.1314_1317del (p.Tyr439fs)
|
|
|
|
NM_015295.3(SMCHD1):c.1396A>T (p.Arg466Ter)
|
rs2143182200
|
|
|
NM_015295.3(SMCHD1):c.1520del (p.Asn507fs)
|
|
|
|
NM_015295.3(SMCHD1):c.1608del (p.Asp537fs)
|
rs1057519614
|
|
|
NM_015295.3(SMCHD1):c.1647+3A>G
|
rs2143184995
|
|
|
NM_015295.3(SMCHD1):c.182_183dup (p.Gln62fs)
|
rs2073052786
|
|
|
NM_015295.3(SMCHD1):c.1886dup (p.Arg630fs)
|
rs2143233837
|
|
|
NM_015295.3(SMCHD1):c.2068C>T (p.Pro690Ser)
|
rs397514623
|
|
|
NM_015295.3(SMCHD1):c.2078dup (p.Leu693fs)
|
rs2143255337
|
|
|
NM_015295.3(SMCHD1):c.2129dup (p.Ala711fs)
|
rs2074549354
|
|
|
NM_015295.3(SMCHD1):c.2178_2179del (p.Glu728fs)
|
rs2074555124
|
|
|
NM_015295.3(SMCHD1):c.2335dup (p.Met779fs)
|
|
|
|
NM_015295.3(SMCHD1):c.261del (p.Phe87fs)
|
rs2143801614
|
|
|
NM_015295.3(SMCHD1):c.2656C>T (p.Arg886Ter)
|
|
|
|
NM_015295.3(SMCHD1):c.2732T>G (p.Leu911Ter)
|
rs2143438994
|
|
|
NM_015295.3(SMCHD1):c.3019C>T (p.Gln1007Ter)
|
|
|
|
NM_015295.3(SMCHD1):c.3234_3235del (p.Glu1080fs)
|
rs2075160048
|
|
|
NM_015295.3(SMCHD1):c.3272_3275del (p.Ile1091fs)
|
rs2075161300
|
|
|
NM_015295.3(SMCHD1):c.3274_3276+1del
|
rs2075161459
|
|
|
NM_015295.3(SMCHD1):c.3276_3276+4del
|
rs1555642277
|
|
|
NM_015295.3(SMCHD1):c.340C>T (p.Arg114Ter)
|
rs2143805963
|
|
|
NM_015295.3(SMCHD1):c.3434del (p.Pro1145fs)
|
rs2075307655
|
|
|
NM_015295.3(SMCHD1):c.3469G>T (p.Gly1157Ter)
|
rs2075308386
|
|
|
NM_015295.3(SMCHD1):c.3484C>T (p.Gln1162Ter)
|
rs1555644339
|
|
|
NM_015295.3(SMCHD1):c.3660_3661del (p.Gly1221fs)
|
rs2075396572
|
|
|
NM_015295.3(SMCHD1):c.3736C>T (p.Arg1246Ter)
|
rs924153704
|
|
|
NM_015295.3(SMCHD1):c.3772_3773insA (p.Leu1258fs)
|
rs2143570702
|
|
|
NM_015295.3(SMCHD1):c.3784_3788del (p.Trp1262fs)
|
|
|
|
NM_015295.3(SMCHD1):c.3786G>A (p.Trp1262Ter)
|
|
|
|
NM_015295.3(SMCHD1):c.3801+1G>A
|
rs886042417
|
|
|
NM_015295.3(SMCHD1):c.3938C>G (p.Ser1313Ter)
|
|
|
|
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp)
|
rs1057519643
|
|
|
NM_015295.3(SMCHD1):c.4104del (p.Val1369fs)
|
rs1555647265
|
|
|
NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu)
|
rs1057519644
|
|
|
NM_015295.3(SMCHD1):c.4231dup (p.Ser1411fs)
|
rs2075566961
|
|
|
NM_015295.3(SMCHD1):c.444_447del (p.Ile149fs)
|
|
|
|
NM_015295.3(SMCHD1):c.4459C>T (p.Gln1487Ter)
|
rs1329504858
|
|
|
NM_015295.3(SMCHD1):c.4566G>A (p.Thr1522=)
|
rs1598416221
|
|
|
NM_015295.3(SMCHD1):c.4821dup (p.Ile1608fs)
|
rs1568350731
|
|
|
NM_015295.3(SMCHD1):c.5150_5151del (p.Lys1717fs)
|
|
|
|
NM_015295.3(SMCHD1):c.5383C>T (p.Arg1795Ter)
|
rs867694014
|
|
|
NM_015295.3(SMCHD1):c.87C>A (p.Tyr29Ter)
|
rs2073049380
|
|
|
NM_015602.4(TOR1AIP1):c.11_17del (p.Asp4fs)
|
rs1647734130
|
|
|
NM_015602.4(TOR1AIP1):c.186del (p.Glu62fs)
|
rs879255612
|
|
|
NM_015602.4(TOR1AIP1):c.189dup (p.Pro64fs)
|
rs1193188647
|
|
|
NM_015602.4(TOR1AIP1):c.343C>T (p.Arg115Ter)
|
rs2148468809
|
|
|
NM_015602.4(TOR1AIP1):c.349C>T (p.Gln117Ter)
|
rs2148468818
|
|
|
NM_015602.4(TOR1AIP1):c.379del (p.Thr127fs)
|
rs2148468861
|
|
|
NM_015602.4(TOR1AIP1):c.583C>T (p.Arg195Ter)
|
|
|
|
NM_015602.4(TOR1AIP1):c.63dup (p.Arg22fs)
|
|
|
|
NM_015602.4(TOR1AIP1):c.663del (p.Glu222fs)
|
rs1648457474
|
|
|
NM_015602.4(TOR1AIP1):c.763C>T (p.Gln255Ter)
|
rs1648544786
|
|
|
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)
|
rs2148480016
|
|
|
NM_015713.5(RRM2B):c.158G>A (p.Trp53Ter)
|
|
|
|
NM_015713.5(RRM2B):c.950del (p.Ser316_Leu317insTer)
|
rs515726199
|
|
|
NM_015713.5(RRM2B):c.965dup (p.Asn322fs)
|
rs515726201
|
|
|
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter)
|
rs121918310
|
|
|
NM_016213.5(TRIP4):c.1199del (p.Gln400fs)
|
|
|
|
NM_016213.5(TRIP4):c.55_56insCT (p.Gln19fs)
|
|
|
|
NM_016474.5(CCDC174):c.1404A>G (p.Ter468Trp)
|
rs869025342
|
|
|
NM_016532.4(INPP5K):c.1251_1252del (p.Asn417fs)
|
rs1060505040
|
|
|
NM_016532.4(INPP5K):c.149T>C (p.Ile50Thr)
|
rs1060505038
|
|
|
NM_016532.4(INPP5K):c.165G>T (p.Leu55Phe)
|
|
|
|
NM_016532.4(INPP5K):c.277A>G (p.Met93Val)
|
rs1060505039
|
|
|
NM_016532.4(INPP5K):c.753_756del (p.Arg251fs)
|
|
|
|
NM_016532.4(INPP5K):c.899A>G (p.Tyr300Cys)
|
rs766046008
|
|
|
NM_016653.3(MAP3K20):c.282dup (p.Asn95Ter)
|
rs1553576774
|
|
|
NM_016653.3(MAP3K20):c.515G>A (p.Trp172Ter)
|
rs1553578407
|
|
|
NM_017534.6(MYH2):c.1719del (p.Gly574fs)
|
rs2073494828
|
|
|
NM_017534.6(MYH2):c.1925del (p.Gly642fs)
|
rs2142309612
|
|
|
NM_017534.6(MYH2):c.1933_1940dup (p.Ser648fs)
|
|
|
|
NM_017534.6(MYH2):c.2116G>A (p.Glu706Lys)
|
rs121434589
|
|
|
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.2400del (p.Phe801fs)
|
rs879255254
|
|
|
NM_017534.6(MYH2):c.2418del (p.Glu806fs)
|
|
|
|
NM_017534.6(MYH2):c.2461C>T (p.Gln821Ter)
|
rs2142303605
|
|
|
NM_017534.6(MYH2):c.2530_2532delinsAAGAGTGCAGAAA (p.Pro844fs)
|
|
|
|
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.3291_3315del (p.Gln1097fs)
|
|
|
|
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.3901G>T (p.Glu1301Ter)
|
|
|
|
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.4662+2T>G
|
rs1597448170
|
|
|
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.5609T>C (p.Leu1870Pro)
|
rs786201023
|
|
|
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro)
|
rs2142289928
|
|
|
NM_017534.6(MYH2):c.5673+1G>C
|
rs1400481053
|
|
|
NM_017534.6(MYH2):c.706G>A (p.Ala236Thr)
|
rs147708782
|
|
|
NM_017534.6(MYH2):c.732_738dup (p.Phe247fs)
|
|
|
|
NM_017534.6(MYH2):c.904+1G>A
|
rs879255253
|
|
|
NM_017534.6(MYH2):c.985C>T (p.Gln329Ter)
|
|
|
|
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)
|
rs398124308
|
|
|
NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs)
|
rs1571659306
|
|
|
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)
|
rs751254522
|
|
|
NM_017739.4(POMGNT1):c.1043dup (p.Ala349fs)
|
rs2148192725
|
|
|
NM_017739.4(POMGNT1):c.1055_1059del (p.Gly352fs)
|
|
|
|
NM_017739.4(POMGNT1):c.1080del (p.Ile361fs)
|
rs2148192392
|
|
|
NM_017739.4(POMGNT1):c.10del (p.Trp4fs)
|
rs1571672866
|
|
|
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs)
|
rs1553163360
|
|
|
NM_017739.4(POMGNT1):c.1153G>T (p.Glu385Ter)
|
rs2148189653
|
|
|
NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter)
|
rs1657864516
|
|
|
NM_017739.4(POMGNT1):c.1285-2A>G
|
rs386834012
|
|
|
NM_017739.4(POMGNT1):c.1285-2A>T
|
rs386834012
|
|
|
NM_017739.4(POMGNT1):c.1335del (p.Met446fs)
|
rs1553163206
|
|
|
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs)
|
rs386834015
|
|
|
NM_017739.4(POMGNT1):c.1352G>A (p.Trp451Ter)
|
|
|
|
NM_017739.4(POMGNT1):c.1365del (p.Arg455fs)
|
rs2148185606
|
|
|
NM_017739.4(POMGNT1):c.1374C>G (p.Tyr458Ter)
|
|
|
|
NM_017739.4(POMGNT1):c.1411A>T (p.Lys471Ter)
|
|
|
|
NM_017739.4(POMGNT1):c.1413+1G>C
|
rs587777821
|
|
|
NM_017739.4(POMGNT1):c.1413+1G>T
|
rs587777821
|
|
|
NM_017739.4(POMGNT1):c.1425G>A (p.Trp475Ter)
|
rs267606961
|
|
|
NM_017739.4(POMGNT1):c.1436del (p.Met479fs)
|
|
|
|
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)
|
rs727504103
|
|
|
NM_017739.4(POMGNT1):c.1465G>T (p.Glu489Ter)
|
|
|
|
NM_017739.4(POMGNT1):c.1478C>G (p.Pro493Arg)
|
rs28942068
|
|
|
NM_017739.4(POMGNT1):c.1539+1G>T
|
rs138642840
|
|
|
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs)
|
rs1434252108
|
|
|
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs)
|
rs1176001640
|
|
|
NM_017739.4(POMGNT1):c.1604+2T>C
|
rs1553162872
|
|
|
NM_017739.4(POMGNT1):c.1609A>T (p.Lys537Ter)
|
|
|
|
NM_017739.4(POMGNT1):c.1615_1616del (p.Glu539fs)
|
|
|
|
NM_017739.4(POMGNT1):c.1623T>G (p.Tyr541Ter)
|
rs746196856
|
|
|
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)
|
rs193919335
|
|
|
NM_017739.4(POMGNT1):c.1672dup (p.Ser558fs)
|
|
|
|
NM_017739.4(POMGNT1):c.1677del (p.Asn560fs)
|
|
|
|
NM_017739.4(POMGNT1):c.1686dup (p.Glu563Ter)
|
rs2148167494
|
|
|
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)
|
rs1057516903
|
|
|
NM_017739.4(POMGNT1):c.1719del (p.His573fs)
|
rs386834017
|
|
|
NM_017739.4(POMGNT1):c.1725_1726del (p.Val576fs)
|
|
|
|
NM_017739.4(POMGNT1):c.1759_1763del (p.Phe587fs)
|
rs1302430730
|
|
|
NM_017739.4(POMGNT1):c.1780del (p.Ala594fs)
|
|
|
|
NM_017739.4(POMGNT1):c.1788C>A (p.Cys596Ter)
|
rs376973640
|
|
|
NM_017739.4(POMGNT1):c.1812del (p.Arg605fs)
|
|
|
|
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)
|
rs267606962
|
|
|
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro)
|
rs267606962
|
|
|
NM_017739.4(POMGNT1):c.1829del (p.Gly610fs)
|
|
|
|
NM_017739.4(POMGNT1):c.1832del (p.Leu611fs)
|
rs587777822
|
|
|
NM_017739.4(POMGNT1):c.1835G>A (p.Trp612Ter)
|
|
|
|
NM_017739.4(POMGNT1):c.1841T>A (p.Leu614Ter)
|
rs1364587778
|
|
|
NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)
|
rs1553162663
|
|
|
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs)
|
rs1057517153
|
|
|
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)
|
rs386834022
|
|
|
NM_017739.4(POMGNT1):c.1895+1G>A
|
rs386834024
|
|
|
NM_017739.4(POMGNT1):c.1895+1G>C
|
rs386834024
|
|
|
NM_017739.4(POMGNT1):c.1A>G (p.Met1Val)
|
|
|
|
NM_017739.4(POMGNT1):c.20del (p.Ser7fs)
|
|
|
|
NM_017739.4(POMGNT1):c.263del (p.Pro88fs)
|
rs1557677980
|
|
|
NM_017739.4(POMGNT1):c.303_304insT (p.Glu102Ter)
|
|
|
|
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)
|
rs749603354
|
|
|
NM_017739.4(POMGNT1):c.351del (p.Thr118fs)
|
rs386834028
|
|
|
NM_017739.4(POMGNT1):c.36del (p.Phe13fs)
|
rs1658363329
|
|
|
NM_017739.4(POMGNT1):c.389dup (p.Ile131fs)
|
|
|
|
NM_017739.4(POMGNT1):c.390del (p.Ile131fs)
|
|
|
|
NM_017739.4(POMGNT1):c.3G>A (p.Met1Ile)
|
|
|
|
NM_017739.4(POMGNT1):c.426del (p.His142fs)
|
|
|
|
NM_017739.4(POMGNT1):c.447del (p.Phe149fs)
|
rs386834029
|
|
|
NM_017739.4(POMGNT1):c.478del (p.Met160fs)
|
rs1057517355
|
|
|
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)
|
rs1424631447
|
|
|
NM_017739.4(POMGNT1):c.538G>T (p.Glu180Ter)
|
|
|
|
NM_017739.4(POMGNT1):c.563_564del (p.Thr188fs)
|
rs757322014
|
|
|
NM_017739.4(POMGNT1):c.564_576del (p.Thr188_Ala189insTer)
|
rs2148205473
|
|
|
NM_017739.4(POMGNT1):c.586del (p.Leu196fs)
|
|
|
|
NM_017739.4(POMGNT1):c.593del (p.Ser198fs)
|
rs386834031
|
|
|
NM_017739.4(POMGNT1):c.595C>T (p.Gln199Ter)
|
rs908815575
|
|
|
NM_017739.4(POMGNT1):c.603_618delinsTCCCTTCAGATTCCTGA (p.Ala203fs)
|
|
|
|
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter)
|
rs1156647434
|
|
|
NM_017739.4(POMGNT1):c.652+1G>A
|
rs386834035
|
|
|
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys)
|
rs386834036
|
|
|
NM_017739.4(POMGNT1):c.699del (p.Trp234fs)
|
|
|
|
NM_017739.4(POMGNT1):c.727_728del (p.Asp243fs)
|
|
|
|
NM_017739.4(POMGNT1):c.75G>A (p.Trp25Ter)
|
rs1264635358
|
|
|
NM_017739.4(POMGNT1):c.75del (p.Thr24_Trp25insTer)
|
rs2148222613
|
|
|
NM_017739.4(POMGNT1):c.87_90dup (p.Asn31fs)
|
|
|
|
NM_017739.4(POMGNT1):c.880-1G>A
|
rs1317832573
|
|
|
NM_017739.4(POMGNT1):c.880-1G>C
|
rs1317832573
|
|
|
NM_017739.4(POMGNT1):c.94C>T (p.Gln32Ter)
|
|
|
|
NM_017739.4(POMGNT1):c.964_965del (p.Leu322fs)
|
|
|
|
NM_017739.4(POMGNT1):c.990_991insAA (p.Gln331fs)
|
|
|
|
NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter)
|
rs1557673817
|
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
|
NM_018116.4(MSTO1):c.1099-1G>A
|
rs745944305
|
|
|
NM_018116.4(MSTO1):c.1128C>A (p.Phe376Leu)
|
rs1553295536
|
|
|
NM_018116.4(MSTO1):c.1190G>A (p.Trp397Ter)
|
|
|
|
NM_018116.4(MSTO1):c.1259del (p.Gly420fs)
|
rs1248439783
|
|
|
NM_018116.4(MSTO1):c.79C>T (p.Gln27Ter)
|
rs1673545403
|
|
|
NM_018372.4(LRIF1):c.869_872dup (p.Trp291Ter)
|
rs2101110148
|
|
|
NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs)
|
rs752316853
|
|
|
NM_018684.4(ZC4H2):c.172G>T (p.Glu58Ter)
|
|
|
|
NM_018684.4(ZC4H2):c.187G>C (p.Val63Leu)
|
rs398122938
|
|
|
NM_018684.4(ZC4H2):c.197T>A (p.Leu66His)
|
rs1057520297
|
|
|
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter)
|
rs1131691616
|
|
|
NM_018684.4(ZC4H2):c.225+2T>C
|
rs1929207873
|
|
|
NM_018684.4(ZC4H2):c.225+5G>A
|
rs1057520298
|
|
|
NM_018684.4(ZC4H2):c.22_23del (p.Met8fs)
|
rs1555945816
|
|
|
NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs)
|
rs1929136990
|
|
|
NM_018684.4(ZC4H2):c.275_276del (p.Glu92fs)
|
rs1929135614
|
|
|
NM_018684.4(ZC4H2):c.388del (p.Leu130fs)
|
|
|
|
NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter)
|
rs1602379828
|
|
|
NM_018684.4(ZC4H2):c.426G>A (p.Trp142Ter)
|
rs1929070198
|
|
|
NM_018684.4(ZC4H2):c.427C>T (p.Gln143Ter)
|
rs1260869746
|
|
|
NM_018684.4(ZC4H2):c.575G>A (p.Cys192Tyr)
|
rs2147345743
|
|
|
NM_018684.4(ZC4H2):c.576del (p.His193fs)
|
rs1929007323
|
|
|
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)
|
rs137962226
|
|
|
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln)
|
rs879255235
|
|
|
NM_018684.4(ZC4H2):c.598G>A (p.Ala200Thr)
|
rs1929006117
|
|
|
NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser)
|
rs398122939
|
|
|
NM_018684.4(ZC4H2):c.617G>T (p.Cys206Phe)
|
rs1064795753
|
|
|
NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp)
|
rs879255236
|
|
|
NM_018684.4(ZC4H2):c.650A>G (p.Lys217Arg)
|
rs1929002470
|
|
|
NM_018684.4(ZC4H2):c.67C>T (p.Gln23Ter)
|
rs1929216641
|
|
|
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)
|
rs121434591
|
|
|
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser)
|
rs587777302
|
|
|
NM_020451.2(SELENON):c.-55_183del
|
rs1572226620
|
|
|
NM_020451.2(SELENON):c.1385G>A (p.Sec462=)
|
rs587776597
|
|
|
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.1069del (p.Val357fs)
|
|
|
|
NM_020451.3(SELENON):c.1086dup (p.Pro363fs)
|
rs2124450830
|
|
|
NM_020451.3(SELENON):c.1168del (p.Leu390fs)
|
|
|
|
NM_020451.3(SELENON):c.1176del (p.Glu394fs)
|
|
|
|
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter)
|
rs747284477
|
|
|
NM_020451.3(SELENON):c.1189C>T (p.Gln397Ter)
|
|
|
|
NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)
|
|
|
|
NM_020451.3(SELENON):c.1282-13G>A
|
|
|
|
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.1384T>G
|
rs121908187
|
|
|
NM_020451.3(SELENON):c.1387+1G>A
|
rs2047977957
|
|
|
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.1446del (p.Asn483fs)
|
rs2124454648
|
|
|
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.402_403+2del
|
rs773670891
|
|
|
NM_020451.3(SELENON):c.404-1G>A
|
rs1005071009
|
|
|
NM_020451.3(SELENON):c.44_72dup (p.Arg25fs)
|
rs797044620
|
|
|
NM_020451.3(SELENON):c.4_5insCCCG (p.Gly2fs)
|
|
|
|
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.69_76dup (p.Arg26fs)
|
|
|
|
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.748-2_760del
|
rs758934983
|
|
|
NM_020451.3(SELENON):c.773del (p.Met258fs)
|
|
|
|
NM_020451.3(SELENON):c.817G>A (p.Gly273Arg)
|
rs2124448034
|
|
|
NM_020451.3(SELENON):c.818G>A (p.Gly273Glu)
|
rs121908182
|
|
|
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_020647.4(JPH1):c.1510del (p.Glu504fs)
|
|
|
|
NM_021738.3(SVIL):c.3578_3579del (p.Val1193fs)
|
rs1948690345
|
|
|
NM_021738.3(SVIL):c.4812C>A (p.Tyr1604Ter)
|
rs753121062
|
|
|
NM_021830.5(TWNK):c.1054_1092dup (p.His364_Lys365insLeuSerArgIleLeuArgThrAlaLeuProAlaTrpHis)
|
|
|
|
NM_021830.5(TWNK):c.1061G>C (p.Arg354Pro)
|
rs111033576
|
|
|
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)
|
rs111033573
|
|
|
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr)
|
rs111033579
|
|
|
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln)
|
rs1554887097
|
|
|
NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro)
|
rs111033577
|
|
|
NM_021830.5(TWNK):c.1374G>T (p.Gln458His)
|
rs1554887213
|
|
|
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)
|
rs111033574
|
|
|
NM_021830.5(TWNK):c.1422G>C (p.Trp474Cys)
|
rs111033574
|
|
|
NM_021830.5(TWNK):c.1423G>C (p.Ala475Pro)
|
rs111033572
|
|
|
NM_021830.5(TWNK):c.907C>T (p.Arg303Trp)
|
rs1159929268
|
|
|
NM_021830.5(TWNK):c.944G>T (p.Trp315Leu)
|
rs111033575
|
|
|
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)
|
rs80356543
|
|
|
NM_021942.6(TRAPPC11):c.1051C>T (p.Gln351Ter)
|
rs2111348673
|
|
|
NM_021942.6(TRAPPC11):c.1131del (p.Asn378fs)
|
|
|
|
NM_021942.6(TRAPPC11):c.1291_1297del (p.Glu430_Ile431insTer)
|
rs1414226750
|
|
|
NM_021942.6(TRAPPC11):c.1348C>T (p.Arg450Ter)
|
|
|
|
NM_021942.6(TRAPPC11):c.1381G>T (p.Glu461Ter)
|
rs2111363477
|
|
|
NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter)
|
rs150331292
|
|
|
NM_021942.6(TRAPPC11):c.1466G>A (p.Trp489Ter)
|
rs1735877322
|
|
|
NM_021942.6(TRAPPC11):c.1522C>T (p.Gln508Ter)
|
|
|
|
NM_021942.6(TRAPPC11):c.1568-1G>T
|
rs1180079162
|
|
|
NM_021942.6(TRAPPC11):c.1702C>T (p.Arg568Ter)
|
|
|
|
NM_021942.6(TRAPPC11):c.171_174dup (p.Asp59delinsArgTer)
|
|
|
|
NM_021942.6(TRAPPC11):c.1816C>T (p.Gln606Ter)
|
|
|
|
NM_021942.6(TRAPPC11):c.1893+3A>G
|
rs886041053
|
|
|
NM_021942.6(TRAPPC11):c.2168dup (p.Lys724fs)
|
rs1554009901
|
|
|
NM_021942.6(TRAPPC11):c.2173del (p.Arg725fs)
|
|
|
|
NM_021942.6(TRAPPC11):c.2281dup (p.Glu761fs)
|
rs2111067026
|
|
|
NM_021942.6(TRAPPC11):c.2389C>T (p.Gln797Ter)
|
rs2111068100
|
|
|
NM_021942.6(TRAPPC11):c.2625del (p.His875fs)
|
rs1736442342
|
|
|
NM_021942.6(TRAPPC11):c.2958G>A (p.Trp986Ter)
|
|
|
|
NM_021942.6(TRAPPC11):c.3173_3180del (p.Phe1058fs)
|
rs1400419850
|
|
|
NM_021942.6(TRAPPC11):c.370del (p.Val124fs)
|
|
|
|
NM_021942.6(TRAPPC11):c.371_374del (p.Val124fs)
|
rs769785004
|
|
|
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs)
|
rs759415592
|
|
|
NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs)
|
rs771717941
|
|
|
NM_021942.6(TRAPPC11):c.630_631del (p.His210fs)
|
rs1735328958
|
|
|
NM_021942.6(TRAPPC11):c.661-1G>T
|
rs886041052
|
|
|
NM_021942.6(TRAPPC11):c.666_669del (p.Phe223fs)
|
|
|
|
NM_021942.6(TRAPPC11):c.725del (p.Asn242fs)
|
|
|
|
NM_021942.6(TRAPPC11):c.751T>C (p.Tyr251His)
|
|
|
|
NM_021942.6(TRAPPC11):c.886C>T (p.Arg296Ter)
|
|
|
|
NM_021942.6(TRAPPC11):c.913_914del (p.Lys305fs)
|
|
|
|
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)
|
rs397509422
|
|
|
NM_021971.4(GMPPB):c.1039_1042dup (p.Ser348Ter)
|
rs1210040661
|
|
|
NM_021971.4(GMPPB):c.1051_1054dup (p.Ser352Ter)
|
|
|
|
NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter)
|
rs1348189028
|
|
|
NM_021971.4(GMPPB):c.132_141del (p.Gly45fs)
|
|
|
|
NM_021971.4(GMPPB):c.220C>T (p.Arg74Ter)
|
rs397509423
|
|
|
NM_021971.4(GMPPB):c.225del (p.Ser76fs)
|
|
|
|
NM_021971.4(GMPPB):c.271_283del (p.Ala91fs)
|
rs1191822017
|
|
|
NM_021971.4(GMPPB):c.308C>T (p.Pro103Leu)
|
rs875989851
|
|
|
NM_021971.4(GMPPB):c.358A>G (p.Met120Val)
|
rs1559697515
|
|
|
NM_021971.4(GMPPB):c.365_366dup (p.Phe123fs)
|
rs1553691975
|
|
|
NM_021971.4(GMPPB):c.458_459del (p.Thr153fs)
|
rs1553691918
|
|
|
NM_021971.4(GMPPB):c.618dup (p.Leu207fs)
|
|
|
|
NM_021971.4(GMPPB):c.640+1G>A
|
rs141588721
|
|
|
NM_021971.4(GMPPB):c.64C>T (p.Pro22Ser)
|
rs397509424
|
|
|
NM_021971.4(GMPPB):c.728_746delinsACAGA (p.Arg243fs)
|
rs2080426663
|
|
|
NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter)
|
rs763971677
|
|
|
NM_021971.4(GMPPB):c.854_855del (p.Cys285fs)
|
|
|
|
NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)
|
|
|
|
NM_021971.4(GMPPB):c.972dup (p.Val325fs)
|
|
|
|
NM_022361.5(POPDC3):c.460A>G (p.Lys154Glu)
|
|
|
|
NM_022361.5(POPDC3):c.486-1G>A
|
rs113419658
|
|
|
NM_022361.5(POPDC3):c.486-6T>A
|
|
|
|
NM_022361.5(POPDC3):c.651A>T (p.Leu217Phe)
|
rs1054547392
|
|
|
NM_024301.5(FKRP):c.-272G>A
|
rs1555735545
|
|
|
NM_024301.5(FKRP):c.-39-2934_564del
|
|
|
|
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu)
|
rs1173430388
|
|
|
NM_024301.5(FKRP):c.1020C>G (p.Tyr340Ter)
|
|
|
|
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter)
|
rs587780334
|
|
|
NM_024301.5(FKRP):c.1075del (p.Trp359fs)
|
rs2122630850
|
|
|
NM_024301.5(FKRP):c.1077_1078dup (p.Asp360fs)
|
rs1568419860
|
|
|
NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter)
|
rs1060502109
|
|
|
NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter)
|
rs1060502109
|
|
|
NM_024301.5(FKRP):c.1100T>A (p.Ile367Asn)
|
|
|
|
NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr)
|
rs1555739020
|
|
|
NM_024301.5(FKRP):c.1125C>A (p.Cys375Ter)
|
|
|
|
NM_024301.5(FKRP):c.1141del (p.Ala381fs)
|
rs754403441
|
|
|
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)
|
rs754403441
|
|
|
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)
|
rs104894680
|
|
|
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs)
|
rs748087383
|
|
|
NM_024301.5(FKRP):c.1187dup (p.Ala397fs)
|
rs772020161
|
|
|
NM_024301.5(FKRP):c.1208dup (p.Arg404fs)
|
|
|
|
NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)
|
|
|
|
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu)
|
rs28937904
|
|
|
NM_024301.5(FKRP):c.1216C>T (p.Gln406Ter)
|
|
|
|
NM_024301.5(FKRP):c.1221C>G (p.Tyr407Ter)
|
|
|
|
NM_024301.5(FKRP):c.1234dup (p.His412fs)
|
rs2122633849
|
|
|
NM_024301.5(FKRP):c.1238del (p.Leu413fs)
|
rs2054934925
|
|
|
NM_024301.5(FKRP):c.1256_1257del (p.Pro419fs)
|
rs886043959
|
|
|
NM_024301.5(FKRP):c.1267del (p.Arg423fs)
|
rs886044083
|
|
|
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)
|
rs1599939853
|
|
|
NM_024301.5(FKRP):c.1306_1307dup (p.Gln437fs)
|
|
|
|
NM_024301.5(FKRP):c.1335_1336del (p.Leu446fs)
|
rs1384878260
|
|
|
NM_024301.5(FKRP):c.1336del (p.Leu446fs)
|
|
|
|
NM_024301.5(FKRP):c.1339C>T (p.Gln447Ter)
|
|
|
|
NM_024301.5(FKRP):c.1354del (p.Leu452fs)
|
rs2122635879
|
|
|
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)
|
rs28937903
|
|
|
NM_024301.5(FKRP):c.1378C>T (p.Gln460Ter)
|
|
|
|
NM_024301.5(FKRP):c.1429del (p.Val477fs)
|
|
|
|
NM_024301.5(FKRP):c.142del (p.Arg48fs)
|
rs1555738103
|
|
|
NM_024301.5(FKRP):c.142dup (p.Arg48fs)
|
|
|
|
NM_024301.5(FKRP):c.151G>T (p.Val51Phe)
|
rs769377092
|
|
|
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)
|
rs1290836394
|
|
|
NM_024301.5(FKRP):c.159_160delinsTT (p.Arg54Trp)
|
|
|
|
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp)
|
rs28937905
|
|
|
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)
|
rs886042506
|
|
|
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys)
|
rs773024545
|
|
|
NM_024301.5(FKRP):c.178_199del (p.Phe59_Asp60insTer)
|
|
|
|
NM_024301.5(FKRP):c.1A>C (p.Met1Leu)
|
rs587777223
|
|
|
NM_024301.5(FKRP):c.1A>G (p.Met1Val)
|
rs587777223
|
|
|
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter)
|
rs1555738201
|
|
|
NM_024301.5(FKRP):c.217C>T (p.Gln73Ter)
|
|
|
|
NM_024301.5(FKRP):c.224del (p.Pro75fs)
|
rs779619633
|
|
|
NM_024301.5(FKRP):c.230_234del (p.Gln77fs)
|
|
|
|
NM_024301.5(FKRP):c.230_234dup (p.Val79fs)
|
rs1555738204
|
|
|
NM_024301.5(FKRP):c.261del (p.Tyr88fs)
|
|
|
|
NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)
|
|
|
|
NM_024301.5(FKRP):c.295del (p.Val99fs)
|
|
|
|
NM_024301.5(FKRP):c.387_390dup (p.Asp131delinsThrTer)
|
rs587777823
|
|
|
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp)
|
rs104894690
|
|
|
NM_024301.5(FKRP):c.447_451del (p.Ala150fs)
|
|
|
|
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)
|
rs727502842
|
|
|
NM_024301.5(FKRP):c.511_523del (p.Leu171fs)
|
rs1314297056
|
|
|
NM_024301.5(FKRP):c.515dup (p.Asn172fs)
|
rs2122617005
|
|
|
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)
|
rs1555738502
|
|
|
NM_024301.5(FKRP):c.540_570dup (p.Cys191fs)
|
rs1311148380
|
|
|
NM_024301.5(FKRP):c.542_567del (p.Arg181fs)
|
|
|
|
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg)
|
rs759875552
|
|
|
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)
|
rs2054912295
|
|
|
NM_024301.5(FKRP):c.650dup (p.Val218fs)
|
rs2122620454
|
|
|
NM_024301.5(FKRP):c.651_652dup (p.Val218fs)
|
|
|
|
NM_024301.5(FKRP):c.656del (p.Gly219fs)
|
rs1555738651
|
|
|
NM_024301.5(FKRP):c.661dup (p.Ser221fs)
|
rs2122620867
|
|
|
NM_024301.5(FKRP):c.663C>A (p.Ser221Arg)
|
rs28937902
|
|
|
NM_024301.5(FKRP):c.675del (p.Thr226fs)
|
rs886043706
|
|
|
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro)
|
rs775681117
|
|
|
NM_024301.5(FKRP):c.686del (p.Arg229fs)
|
rs1555738686
|
|
|
NM_024301.5(FKRP):c.692G>A (p.Trp231Ter)
|
|
|
|
NM_024301.5(FKRP):c.712_713del (p.Leu238fs)
|
|
|
|
NM_024301.5(FKRP):c.722_791del (p.Ala241fs)
|
|
|
|
NM_024301.5(FKRP):c.764G>A (p.Trp255Ter)
|
rs104894689
|
|
|
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)
|
rs1555738753
|
|
|
NM_024301.5(FKRP):c.779_785del (p.Glu260fs)
|
rs2122623346
|
|
|
NM_024301.5(FKRP):c.796del (p.Ala266fs)
|
rs1555738764
|
|
|
NM_024301.5(FKRP):c.797dup (p.Ala267fs)
|
|
|
|
NM_024301.5(FKRP):c.813_814dup (p.Leu272fs)
|
|
|
|
NM_024301.5(FKRP):c.81_82delinsTT (p.Gln28Ter)
|
|
|
|
NM_024301.5(FKRP):c.828del (p.Leu276_Val277insTer)
|
|
|
|
NM_024301.5(FKRP):c.835dup (p.Trp279fs)
|
|
|
|
NM_024301.5(FKRP):c.857G>A (p.Trp286Ter)
|
|
|
|
NM_024301.5(FKRP):c.877A>G (p.Thr293Ala)
|
rs2122625896
|
|
|
NM_024301.5(FKRP):c.892G>T (p.Gly298Ter)
|
rs886043401
|
|
|
NM_024301.5(FKRP):c.897dup (p.Val300fs)
|
|
|
|
NM_024301.5(FKRP):c.919del (p.Tyr307fs)
|
rs2122626858
|
|
|
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter)
|
rs765885747
|
|
|
NM_024301.5(FKRP):c.938G>A (p.Trp313Ter)
|
|
|
|
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)
|
rs398124395
|
|
|
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)
|
rs28937901
|
|
|
NM_024301.5(FKRP):c.947_948del (p.Pro316fs)
|
|
|
|
NM_024301.5(FKRP):c.947_948insA (p.Cys317fs)
|
rs2122627673
|
|
|
NM_024301.5(FKRP):c.948del (p.Cys317fs)
|
rs748798133
|
|
|
NM_024301.5(FKRP):c.949del (p.Cys317fs)
|
|
|
|
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr)
|
rs104894684
|
|
|
NM_024301.5(FKRP):c.960_970del (p.Ala321fs)
|
rs1599937963
|
|
|
NM_024301.5(FKRP):c.963_964del (p.Leu322fs)
|
rs1555738883
|
|
|
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)
|
rs886044183
|
|
|
NM_024301.5(FKRP):c.979dup (p.Arg327fs)
|
rs2122628653
|
|
|
NM_024301.5(FKRP):c.985G>A (p.Val329Met)
|
|
|
|
NM_024301.5(FKRP):c.998_1015del (p.Leu333_Val338del)
|
rs2122628972
|
|
|
NM_024334.3(TMEM43):c.253G>A (p.Glu85Lys)
|
rs397514044
|
|
|
NM_024854.5(PYROXD1):c.1061A>G (p.Tyr354Cys)
|
|
|
|
NM_024854.5(PYROXD1):c.1160_1163dup (p.Lys388fs)
|
rs1057518755
|
|
|
NM_024854.5(PYROXD1):c.334_337del (p.Leu112fs)
|
|
|
|
NM_024854.5(PYROXD1):c.414+1G>A
|
rs1057518754
|
|
|
NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del)
|
rs876661309
|
|
|
NM_025207.5(FLAD1):c.401_404del (p.Phe134fs)
|
rs876661313
|
|
|
NM_025207.5(FLAD1):c.442C>T (p.Arg148Ter)
|
|
|
|
NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs)
|
rs876661312
|
|
|
NM_025207.5(FLAD1):c.836del (p.Phe279fs)
|
rs876661311
|
|
|
NM_025215.6(PUS1):c.107_122dup (p.Cys42fs)
|
|
|
|
NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter)
|
rs779193823
|
|
|
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter)
|
rs895175332
|
|
|
NM_025215.6(PUS1):c.460C>T (p.Gln154Ter)
|
|
|
|
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter)
|
rs104894372
|
|
|
NM_025233.7(COASY):c.1112A>G (p.Lys371Arg)
|
|
|
|
NM_031157.4(HNRNPA1):c.1064-63_*4+37del
|
|
|
|
NM_031157.4(HNRNPA1):c.941A>T (p.Asp314Val)
|
rs397518452
|
|
|
NM_031229.4(RBCK1):c.1111dup (p.Cys371fs)
|
|
|
|
NM_031229.4(RBCK1):c.1112G>T (p.Cys371Phe)
|
rs1555787599
|
|
|
NM_031229.4(RBCK1):c.1136G>A (p.Trp379Ter)
|
|
|
|
NM_031229.4(RBCK1):c.1258_1259dup (p.Arg421fs)
|
rs2122333654
|
|
|
NM_031229.4(RBCK1):c.1308+1G>T
|
rs1555787903
|
|
|
NM_031229.4(RBCK1):c.1386G>A (p.Trp462Ter)
|
|
|
|
NM_031229.4(RBCK1):c.325C>T (p.Arg109Ter)
|
rs1568554654
|
|
|
NM_031229.4(RBCK1):c.331C>T (p.Gln111Ter)
|
rs746197240
|
|
|
NM_031229.4(RBCK1):c.49C>T (p.Arg17Ter)
|
|
|
|
NM_031229.4(RBCK1):c.582+1G>C
|
rs1017046170
|
|
|
NM_031229.4(RBCK1):c.586_596del (p.Gly196fs)
|
rs1487503835
|
|
|
NM_031229.4(RBCK1):c.663del (p.Glu222fs)
|
rs2122245228
|
|
|
NM_031229.4(RBCK1):c.701_708dup (p.Ala238fs)
|
|
|
|
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs)
|
rs730880329
|
|
|
NM_031229.4(RBCK1):c.727G>T (p.Glu243Ter)
|
rs727503765
|
|
|
NM_031229.4(RBCK1):c.745C>T (p.Gln249Ter)
|
rs2016260522
|
|
|
NM_031229.4(RBCK1):c.751C>T (p.Gln251Ter)
|
rs2016261486
|
|
|
NM_031229.4(RBCK1):c.772C>T (p.Gln258Ter)
|
|
|
|
NM_031229.4(RBCK1):c.790C>T (p.Gln264Ter)
|
rs587777561
|
|
|
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs)
|
rs727503764
|
|
|
NM_031229.4(RBCK1):c.949C>T (p.Gln317Ter)
|
rs2122281705
|
|
|
NM_031229.4(RBCK1):c.994_999del (p.Cys332_Ser333del)
|
rs2122282189
|
|
|
NM_031372.4(HNRNPDL):c.1132G>A (p.Asp378Asn)
|
rs587777669
|
|
|
NM_031372.4(HNRNPDL):c.1132G>C (p.Asp378His)
|
rs587777669
|
|
|
NM_032237.5(POMK):c.152del (p.Asp51fs)
|
rs2130601407
|
|
|
NM_032237.5(POMK):c.238_239del (p.Glu80fs)
|
rs1454006905
|
|
|
NM_032237.5(POMK):c.247C>T (p.Gln83Ter)
|
|
|
|
NM_032237.5(POMK):c.280A>T (p.Arg94Ter)
|
|
|
|
NM_032237.5(POMK):c.282+1G>C
|
rs1206884841
|
|
|
NM_032237.5(POMK):c.288del (p.Leu97fs)
|
rs606231306
|
|
|
NM_032237.5(POMK):c.325C>T (p.Gln109Ter)
|
rs587777423
|
|
|
NM_032237.5(POMK):c.43dup (p.Arg15fs)
|
rs749980792
|
|
|
NM_032237.5(POMK):c.452_455dup (p.His152fs)
|
rs2130626601
|
|
|
NM_032237.5(POMK):c.459del (p.Pro153_Leu154insTer)
|
|
|
|
NM_032237.5(POMK):c.645T>G (p.Tyr215Ter)
|
|
|
|
NM_032237.5(POMK):c.724dup (p.Val242fs)
|
|
|
|
NM_032237.5(POMK):c.754dup (p.Asp252fs)
|
|
|
|
NM_032237.5(POMK):c.803del (p.Phe268fs)
|
|
|
|
NM_032237.5(POMK):c.847del (p.Trp283fs)
|
|
|
|
NM_032237.5(POMK):c.94_98del (p.Thr32fs)
|
|
|
|
NM_032578.4(MYPN):c.1973+1G>C
|
|
|
|
NM_032578.4(MYPN):c.1974-2A>C
|
|
|
|
NM_032578.4(MYPN):c.2003del (p.Asn668fs)
|
rs1057519570
|
|
|
NM_032578.4(MYPN):c.3076-2A>C
|
rs1057519571
|
|
|
NM_032578.4(MYPN):c.3158+1G>A
|
|
|
|
NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter)
|
rs1057519572
|
|
|
NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter)
|
rs1057519573
|
|
|
NM_032608.7(MYO18B):c.1195del (p.Gln399fs)
|
rs2145587855
|
|
|
NM_032608.7(MYO18B):c.2212-1G>A
|
|
|
|
NM_032608.7(MYO18B):c.2848C>T (p.Gln950Ter)
|
|
|
|
NM_032608.7(MYO18B):c.3775+1G>T
|
|
|
|
NM_032608.7(MYO18B):c.4087C>T (p.Arg1363Ter)
|
|
|
|
NM_032608.7(MYO18B):c.4792C>T (p.Arg1598Ter)
|
|
|
|
NM_032608.7(MYO18B):c.6496G>T (p.Glu2166Ter)
|
rs869312740
|
|
|
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs)
|
rs756408696
|
|
|
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs)
|
rs1569308524
|
|
|
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)
|
rs556752387
|
|
|
NM_032608.7(MYO18B):c.7015del (p.Leu2339fs)
|
|
|
|
NM_032790.4(ORAI1):c.208_209del (p.Ser70fs)
|
|
|
|
NM_032790.4(ORAI1):c.290C>G (p.Ser97Cys)
|
rs1555322610
|
|
|
NM_032790.4(ORAI1):c.292G>A (p.Gly98Ser)
|
rs786204796
|
|
|
NM_032790.4(ORAI1):c.734C>T (p.Pro245Leu)
|
rs587777528
|
|
|
NM_032806.6(POMGNT2):c.1000_1003del (p.Leu334fs)
|
rs2089839448
|
|
|
NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter)
|
rs1021357430
|
|
|
NM_032806.6(POMGNT2):c.118C>T (p.Arg40Ter)
|
rs2089853535
|
|
|
NM_032806.6(POMGNT2):c.1258del (p.Ala420fs)
|
rs1575461722
|
|
|
NM_032806.6(POMGNT2):c.1326G>A (p.Trp442Ter)
|
rs2125699699
|
|
|
NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter)
|
rs387907299
|
|
|
NM_032806.6(POMGNT2):c.1510del (p.Val504fs)
|
|
|
|
NM_032806.6(POMGNT2):c.381_382del (p.Gln128fs)
|
|
|
|
NM_032806.6(POMGNT2):c.40del (p.Val14fs)
|
|
|
|
NM_032806.6(POMGNT2):c.410_411delinsG (p.Ala137fs)
|
rs2125700808
|
|
|
NM_032806.6(POMGNT2):c.503T>C (p.Phe168Ser)
|
rs2125700641
|
|
|
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter)
|
rs1553618354
|
|
|
NM_032806.6(POMGNT2):c.817_818del (p.Glu273fs)
|
|
|
|
NM_032806.6(POMGNT2):c.820_821del (p.Lys274fs)
|
rs2125700249
|
|
|
NM_033337.3(CAV3):c.114+2T>C
|
rs116840787
|
|
|
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)
|
rs116840789
|
|
|
NM_033337.3(CAV3):c.137C>T (p.Ala46Val)
|
rs116840773
|
|
|
NM_033337.3(CAV3):c.139G>A (p.Glu47Lys)
|
rs116840793
|
|
|
NM_033337.3(CAV3):c.189_197del (p.Thr64_Thr66del)
|
rs199476331
|
|
|
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)
|
rs28936686
|
|
|
NM_033337.3(CAV3):c.290_292del (p.Phe97del)
|
rs199476335
|
|
|
NM_033337.3(CAV3):c.314C>T (p.Pro105Leu)
|
rs116840805
|
|
|
NM_033337.3(CAV3):c.84C>A (p.Asp28Glu)
|
rs116840782
|
|
|
NM_033337.3(CAV3):c.99C>G (p.Asn33Lys)
|
rs1008642
|
|
|
NM_033419.5(PGAP3):c.851A>G (p.His284Arg)
|
rs776720232
|
|
|
NM_058246.4(DNAJB6):c.149C>T (p.Ala50Val)
|
rs575604496
|
|
|
NM_058246.4(DNAJB6):c.236-3C>G
|
|
|
|
NM_058246.4(DNAJB6):c.271T>A (p.Phe91Ile)
|
rs869320701
|
|
|
NM_058246.4(DNAJB6):c.271T>C (p.Phe91Leu)
|
rs869320701
|
|
|
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val)
|
rs869320701
|
|
|
NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu)
|
rs759982570
|
|
|
NM_058246.4(DNAJB6):c.277T>C (p.Phe93Leu)
|
rs387907046
|
|
|
NM_058246.4(DNAJB6):c.279C>A (p.Phe93Leu)
|
rs149278319
|
|
|
NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)
|
rs149278319
|
|
|
NM_058246.4(DNAJB6):c.287C>G (p.Pro96Arg)
|
rs387907047
|
|
|
NM_058246.4(DNAJB6):c.287C>T (p.Pro96Leu)
|
|
|
|
NM_058246.4(DNAJB6):c.298T>G (p.Phe100Val)
|
rs869320700
|
|
|
NM_058246.4(DNAJB6):c.346+5G>A
|
rs869320702
|
|
|
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)
|
rs397514662
|
|
|
NM_079420.3(MYL1):c.479-2A>G
|
rs1559659233
|
|
|
NM_079420.3(MYL1):c.488T>G (p.Met163Arg)
|
rs1259220084
|
|
|
NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys)
|
rs762550967
|
|
|
NM_080916.3(DGUOK):c.186C>A (p.Tyr62Ter)
|
rs879255617
|
|
|
NM_080916.3(DGUOK):c.605_606del (p.Arg202fs)
|
rs863223949
|
|
|
NM_133642.5(LARGE1):c.1030C>T (p.Gln344Ter)
|
|
|
|
NM_133642.5(LARGE1):c.1209del (p.Phe404fs)
|
rs1938637889
|
|
|
NM_133642.5(LARGE1):c.1390G>T (p.Glu464Ter)
|
|
|
|
NM_133642.5(LARGE1):c.1538dup (p.Leu514fs)
|
|
|
|
NM_133642.5(LARGE1):c.156dup (p.Arg53fs)
|
|
|
|
NM_133642.5(LARGE1):c.1616_1620delinsG (p.Gln539fs)
|
|
|
|
NM_133642.5(LARGE1):c.1671del (p.Tyr558fs)
|
|
|
|
NM_133642.5(LARGE1):c.1699del (p.Leu567fs)
|
rs1934564024
|
|
|
NM_133642.5(LARGE1):c.171del (p.Ser58fs)
|
|
|
|
NM_133642.5(LARGE1):c.1811del (p.Leu604fs)
|
rs2145893296
|
|
|
NM_133642.5(LARGE1):c.184_187del (p.Glu63fs)
|
|
|
|
NM_133642.5(LARGE1):c.1999dup (p.Cys667fs)
|
|
|
|
NM_133642.5(LARGE1):c.265C>T (p.Arg89Ter)
|
rs1359437833
|
|
|
NM_133642.5(LARGE1):c.283C>T (p.Arg95Ter)
|
rs761071115
|
|
|
NM_133642.5(LARGE1):c.334G>T (p.Glu112Ter)
|
rs146078928
|
|
|
NM_133642.5(LARGE1):c.620_621del (p.Glu207fs)
|
rs2148785084
|
|
|
NM_133642.5(LARGE1):c.864G>A (p.Trp288Ter)
|
|
|
|
NM_133642.5(LARGE1):c.941_945dup (p.Trp316fs)
|
|
|
|
NM_133642.5(LARGE1):c.96del (p.Ser33fs)
|
|
|
|
NM_133642.5(LARGE1):c.992C>T (p.Ser331Phe)
|
rs267607210
|
|
|
NM_138638.5(CFL2):c.100_103del (p.Lys34fs)
|
rs1885387438
|
|
|
NM_138638.5(CFL2):c.103G>A (p.Ala35Thr)
|
rs80358250
|
|
|
NM_138638.5(CFL2):c.154_157del (p.Ala52fs)
|
|
|
|
NM_138638.5(CFL2):c.19G>A (p.Val7Met)
|
rs397515451
|
|
|
NM_138638.5(CFL2):c.338del (p.Ser113fs)
|
rs1594784544
|
|
|
NM_138638.5(CFL2):c.4-115A>C
|
|
|
|
NM_138638.5(CFL2):c.4-115A>G
|
|
|
|
NM_139343.3(BIN1):c.1002+2T>C
|
rs1553458019
|
|
|
NM_139343.3(BIN1):c.105G>T (p.Lys35Asn)
|
rs121909273
|
|
|
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter)
|
rs587783343
|
|
|
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter)
|
rs121909275
|
|
|
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys)
|
rs1249621033
|
|
|
NM_139343.3(BIN1):c.451G>A (p.Asp151Asn)
|
rs121909274
|
|
|
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln)
|
rs267606681
|
|
|
NM_145064.3(STAC3):c.297_301del (p.Pro100fs)
|
|
|
|
NM_145064.3(STAC3):c.383_399del (p.His128fs)
|
rs1555194630
|
|
|
NM_145064.3(STAC3):c.432+4A>T
|
rs751033943
|
|
|
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_145064.3(STAC3):c.997-1G>T
|
rs779483367
|
|
|
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)
|
rs368751524
|
|
|
NM_145868.2(ANXA11):c.118_119delinsAT (p.Asp40Ile)
|
|
|
|
NM_152263.4(TPM3):c.118-12G>A
|
|
|
|
NM_152263.4(TPM3):c.138del (p.Met47fs)
|
|
|
|
NM_152263.4(TPM3):c.26T>G (p.Met9Arg)
|
rs80358247
|
|
|
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)
|
rs1571418855
|
|
|
NM_152263.4(TPM3):c.298C>A (p.Leu100Met)
|
rs121964853
|
|
|
NM_152263.4(TPM3):c.445C>A (p.Leu149Ile)
|
|
|
|
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.654AGA[1] (p.Glu219del)
|
rs876661407
|
|
|
NM_152263.4(TPM3):c.670GAA[1] (p.Glu225del)
|
rs876661406
|
|
|
NM_152263.4(TPM3):c.709G>A (p.Glu237Lys)
|
rs1661445206
|
|
|
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys)
|
rs1553248515
|
|
|
NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?)
|
rs199474719
|
|
|
NM_152263.4(TPM3):c.87_91del (p.Gln30fs)
|
rs2148295371
|
|
|
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)
|
rs80358248
|
|
|
NM_152305.3(POGLUT1):c.170A>G (p.Tyr57Cys)
|
|
|
|
NM_152305.3(POGLUT1):c.292C>T (p.Arg98Trp)
|
|
|
|
NM_152305.3(POGLUT1):c.356T>C (p.Ile119Thr)
|
|
|
|
NM_152305.3(POGLUT1):c.547C>T (p.Arg183Trp)
|
|
|
|
NM_152305.3(POGLUT1):c.552G>A (p.Trp184Ter)
|
rs1560034617
|
|
|
NM_152305.3(POGLUT1):c.699T>G (p.Asp233Glu)
|
rs550944082
|
|
|
NM_152305.3(POGLUT1):c.836G>A (p.Arg279Gln)
|
|
|
|
NM_152328.5(ADSS1):c.1091T>C (p.Leu364Pro)
|
rs1891497352
|
|
|
NM_152328.5(ADSS1):c.741dup (p.Lys248fs)
|
rs769542442
|
|
|
NM_152393.4(KLHL40):c.1281_1294del (p.Cys428fs)
|
rs770267750
|
|
|
NM_152393.4(KLHL40):c.1292C>A (p.Ser431Ter)
|
|
|
|
NM_152393.4(KLHL40):c.1395C>A (p.Tyr465Ter)
|
rs139588377
|
|
|
NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys)
|
rs367579275
|
|
|
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.1612G>C (p.Ala538Pro)
|
rs397509421
|
|
|
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.270C>G (p.Tyr90Ter)
|
|
|
|
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.602G>T (p.Trp201Leu)
|
rs397509420
|
|
|
NM_152393.4(KLHL40):c.631del (p.Ala211fs)
|
rs752734208
|
|
|
NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter)
|
rs768335581
|
|
|
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_152490.5(B3GALNT2):c.1020_1021dup (p.Arg341fs)
|
rs1276205801
|
|
|
NM_152490.5(B3GALNT2):c.1039dup (p.Thr347fs)
|
rs2102784860
|
|
|
NM_152490.5(B3GALNT2):c.1066_1067del (p.Thr355_Asp356insTer)
|
rs781339765
|
|
|
NM_152490.5(B3GALNT2):c.1177C>T (p.Arg393Ter)
|
rs1300792331
|
|
|
NM_152490.5(B3GALNT2):c.1209_1257dup (p.Lys420fs)
|
|
|
|
NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs)
|
rs1553342786
|
|
|
NM_152490.5(B3GALNT2):c.1275_1278delinsCCT (p.Trp425fs)
|
rs1683058752
|
|
|
NM_152490.5(B3GALNT2):c.1315G>T (p.Glu439Ter)
|
|
|
|
NM_152490.5(B3GALNT2):c.1337G>A (p.Trp446Ter)
|
|
|
|
NM_152490.5(B3GALNT2):c.133C>T (p.Gln45Ter)
|
rs1685241606
|
|
|
NM_152490.5(B3GALNT2):c.1368+1G>C
|
rs1479230229
|
|
|
NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter)
|
rs367543077
|
|
|
NM_152490.5(B3GALNT2):c.199C>T (p.Arg67Ter)
|
rs760816239
|
|
|
NM_152490.5(B3GALNT2):c.261-2A>G
|
|
|
|
NM_152490.5(B3GALNT2):c.27C>A (p.Cys9Ter)
|
rs1685730083
|
|
|
NM_152490.5(B3GALNT2):c.308_309del (p.Val103fs)
|
rs367543070
|
|
|
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs)
|
rs367543069
|
|
|
NM_152490.5(B3GALNT2):c.59G>A (p.Trp20Ter)
|
rs2102880436
|
|
|
NM_152490.5(B3GALNT2):c.652-1G>C
|
rs2102815577
|
|
|
NM_152490.5(B3GALNT2):c.699del (p.Val234fs)
|
rs1572513308
|
|
|
NM_152490.5(B3GALNT2):c.753del (p.Val252fs)
|
rs2102815215
|
|
|
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly)
|
rs367543073
|
|
|
NM_152490.5(B3GALNT2):c.763-1G>A
|
rs780433836
|
|
|
NM_152490.5(B3GALNT2):c.770dup (p.Ala259fs)
|
rs1064793673
|
|
|
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs)
|
rs367543075
|
|
|
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro)
|
rs367543076
|
|
|
NM_152490.5(B3GALNT2):c.903dup (p.Asn302fs)
|
rs1469279569
|
|
|
NM_152490.5(B3GALNT2):c.947dup (p.Tyr317fs)
|
|
|
|
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala)
|
rs745692004
|
|
|
NM_153741.2(DPM3):c.179del (p.Arg60fs)
|
|
|
|
NM_153741.2(DPM3):c.205del (p.Asp69fs)
|
|
|
|
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)
|
rs1444066075
|
|
|
NM_153741.2(DPM3):c.229C>T (p.Gln77Ter)
|
rs2102491600
|
|
|
NM_153741.2(DPM3):c.244C>T (p.Arg82Ter)
|
rs749000879
|
|
|
NM_153741.2(DPM3):c.254T>A (p.Leu85Ter)
|
rs121908155
|
|
|
NM_153741.2(DPM3):c.254T>C (p.Leu85Ser)
|
rs121908155
|
|
|
NM_153741.2(DPM3):c.27G>A (p.Trp9Ter)
|
|
|
|
NM_153741.2(DPM3):c.5del (p.Thr2fs)
|
|
|
|
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)
|
rs60458016
|
|
|
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)
|
rs267607634
|
|
|
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)
|
rs61672878
|
|
|
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)
|
rs61672878
|
|
|
NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser)
|
rs121912495
|
|
|
NM_170707.4(LMNA):c.1147G>A (p.Glu383Lys)
|
rs1651580090
|
|
|
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del)
|
rs1553265761
|
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
|
NM_170707.4(LMNA):c.1381-2A>C
|
|
|
|
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)
|
rs56699480
|
|
|
NM_170707.4(LMNA):c.148C>T (p.Arg50Cys)
|
rs59931416
|
|
|
NM_170707.4(LMNA):c.1549_1550del (p.Gln517fs)
|
|
|
|
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)
|
rs57520892
|
|
|
NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)
|
rs780302064
|
|
|
NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro)
|
rs60934003
|
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
|
NM_170707.4(LMNA):c.1608+5G>C
|
rs267607539
|
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
|
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)
|
rs61046466
|
|
|
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)
|
rs60864230
|
|
|
NM_170707.4(LMNA):c.428C>T (p.Ser143Phe)
|
rs58912633
|
|
|
NM_170707.4(LMNA):c.513+45T>G
|
rs878853220
|
|
|
NM_170707.4(LMNA):c.550C>T (p.Gln184Ter)
|
rs1651341099
|
|
|
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del)
|
rs267607540
|
|
|
NM_170707.4(LMNA):c.664C>T (p.His222Tyr)
|
rs28928901
|
|
|
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)
|
rs199474724
|
|
|
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)
|
rs121912496
|
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
|
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)
|
rs58048078
|
|
|
NM_170707.4(LMNA):c.810+1G>C
|
rs267607632
|
|
|
NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)
|
rs1553265433
|
|
|
NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del)
|
rs1553265436
|
|
|
NM_170707.4(LMNA):c.851T>C (p.Leu284Pro)
|
rs886043260
|
|
|
NM_170707.4(LMNA):c.94_96del (p.Lys32del)
|
rs60872029
|
|
|
NM_170707.4(LMNA):c.95A>C (p.Lys32Thr)
|
|
|
|
NM_170707.4(LMNA):c.960del (p.Arg321fs)
|
rs56771886
|
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
|
NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
|
|
|
|
NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs)
|
rs1553850100
|
|
|
NM_173660.5(DOK7):c.1040_1041del (p.Ser347fs)
|
|
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
|
NM_173660.5(DOK7):c.1138dup (p.Ala380fs)
|
rs761899995
|
|
|
NM_173660.5(DOK7):c.1143del (p.Glu382fs)
|
rs606231132
|
|
|
NM_173660.5(DOK7):c.1143dup (p.Glu382fs)
|
rs606231132
|
|
|
NM_173660.5(DOK7):c.1153_1166delinsAGGGGCCCCCGA (p.Leu385fs)
|
|
|
|
NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter)
|
|
|
|
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
|
|
|
|
NM_173660.5(DOK7):c.1257_1269del (p.Ser419fs)
|
|
|
|
NM_173660.5(DOK7):c.1263del (p.Ser422fs)
|
rs606231129
|
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
|
NM_173660.5(DOK7):c.1264del (p.Ser422fs)
|
rs1258346283
|
|
|
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter)
|
rs1728650830
|
|
|
NM_173660.5(DOK7):c.1271_1280dup (p.Asn428fs)
|
|
|
|
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs)
|
rs778172294
|
|
|
NM_173660.5(DOK7):c.1296_1311dup (p.Thr438fs)
|
|
|
|
NM_173660.5(DOK7):c.1310_1320del (p.Gln437fs)
|
|
|
|
NM_173660.5(DOK7):c.1323del (p.Cys442fs)
|
rs1210035894
|
|
|
NM_173660.5(DOK7):c.1323dup (p.Cys442fs)
|
|
|
|
NM_173660.5(DOK7):c.1324_1357del (p.Cys442fs)
|
|
|
|
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
|
|
|
|
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs)
|
rs606231131
|
|
|
NM_173660.5(DOK7):c.1348del (p.Arg450fs)
|
|
|
|
NM_173660.5(DOK7):c.1358dup (p.Leu454fs)
|
rs775544277
|
|
|
NM_173660.5(DOK7):c.1361_1374del (p.Leu454fs)
|
|
|
|
NM_173660.5(DOK7):c.1367dup (p.Met456fs)
|
|
|
|
NM_173660.5(DOK7):c.1372dup (p.Ala458fs)
|
|
|
|
NM_173660.5(DOK7):c.1378C>T (p.Gln460Ter)
|
|
|
|
NM_173660.5(DOK7):c.1378del (p.Gln460fs)
|
|
|
|
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)
|
rs606231133
|
|
|
NM_173660.5(DOK7):c.1387G>T (p.Glu463Ter)
|
rs745941308
|
|
|
NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs)
|
rs1728671600
|
|
|
NM_173660.5(DOK7):c.1441dup (p.His481fs)
|
rs1168106708
|
|
|
NM_173660.5(DOK7):c.1457del (p.Pro486fs)
|
rs1577184455
|
|
|
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs)
|
rs797045040
|
|
|
NM_173660.5(DOK7):c.199C>T (p.Pro67Ser)
|
rs1553846331
|
|
|
NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)
|
|
|
|
NM_173660.5(DOK7):c.28del (p.Gln10fs)
|
rs1560200925
|
|
|
NM_173660.5(DOK7):c.298dup (p.Trp100fs)
|
|
|
|
NM_173660.5(DOK7):c.299G>A (p.Trp100Ter)
|
rs2109336441
|
|
|
NM_173660.5(DOK7):c.325G>A (p.Gly109Ser)
|
rs762952740
|
|
|
NM_173660.5(DOK7):c.429del (p.Asp143fs)
|
|
|
|
NM_173660.5(DOK7):c.457A>T (p.Lys153Ter)
|
rs1727096342
|
|
|
NM_173660.5(DOK7):c.463_466del (p.Ser155fs)
|
|
|
|
NM_173660.5(DOK7):c.473G>A (p.Arg158Gln)
|
|
|
|
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter)
|
rs550024569
|
|
|
NM_173660.5(DOK7):c.483_484dup (p.Ala162fs)
|
rs1577153124
|
|
|
NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)
|
|
|
|
NM_173660.5(DOK7):c.513C>T (p.Gly171=)
|
rs775583136
|
|
|
NM_173660.5(DOK7):c.539G>C (p.Gly180Ala)
|
rs118203994
|
|
|
NM_173660.5(DOK7):c.54+25_55-38del
|
rs769850502
|
|
|
NM_173660.5(DOK7):c.548_551del (p.Phe183fs)
|
rs606231130
|
|
|
NM_173660.5(DOK7):c.55-1G>T
|
rs863223277
|
|
|
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)
|
rs118203995
|
|
|
NM_173660.5(DOK7):c.668dup (p.Pro224fs)
|
|
|
|
NM_173660.5(DOK7):c.66_69dup (p.Leu24fs)
|
|
|
|
NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)
|
|
|
|
NM_173660.5(DOK7):c.718C>T (p.Gln240Ter)
|
|
|
|
NM_173660.5(DOK7):c.743_746dup (p.His250fs)
|
rs1560224831
|
|
|
NM_173660.5(DOK7):c.757_772+3del
|
|
|
|
NM_173660.5(DOK7):c.810_811del (p.His272fs)
|
rs778227501
|
|
|
NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)
|
|
|
|
NM_173660.5(DOK7):c.894dup (p.Pro299fs)
|
|
|
|
NM_173660.5(DOK7):c.925del (p.Glu309fs)
|
rs1182982672
|
|
|
NM_173660.5(DOK7):c.930_933del (p.Met311fs)
|
rs2109417343
|
|
|
NM_173660.5(DOK7):c.957del (p.Lys320fs)
|
rs794727884
|
|
|
NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)
|
|
|
|
NM_173660.5(DOK7):c.978_1018del (p.Gln326fs)
|
rs2109417797
|
|
|
NM_178554.6(KY):c.1071del (p.Thr358fs)
|
rs886037917
|
|
|
NM_178554.6(KY):c.405C>A (p.Tyr135Ter)
|
rs377332009
|
|
|
NM_178554.6(KY):c.481C>T (p.Gln161Ter)
|
|
|
|
NM_182914.3(SYNE2):c.2970C>A (p.Tyr990Ter)
|
rs1323140900
|
|
|
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter)
|
rs2096893099
|
|
|
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
|
|
|
|
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
|
|
|
|
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs)
|
rs1564367104
|
|
|
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs)
|
rs886042380
|
|
|
NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)
|
|
|
|
NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)
|
|
|
|
NM_182961.4(SYNE1):c.13021_13022del (p.Thr4341fs)
|
|
|
|
NM_182961.4(SYNE1):c.14278del (p.His4760fs)
|
rs2153970781
|
|
|
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
|
|
|
|
NM_182961.4(SYNE1):c.14673del (p.Glu4892fs)
|
|
|
|
NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter)
|
rs1270730854
|
|
|
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter)
|
rs1554451078
|
|
|
NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
|
|
|
|
NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs)
|
rs1291249200
|
|
|
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter)
|
rs781354327
|
|
|
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter)
|
rs772587027
|
|
|
NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
|
|
|
NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
|
|
|
NM_182961.4(SYNE1):c.16815_16821dup (p.Glu5608fs)
|
rs886043923
|
|
|
NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter)
|
rs777656140
|
|
|
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter)
|
rs2153836962
|
|
|
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)
|
rs746328978
|
|
|
NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
|
|
|
|
NM_182961.4(SYNE1):c.17373C>A (p.Tyr5791Ter)
|
|
|
|
NM_182961.4(SYNE1):c.17628_17643del (p.Pro5877fs)
|
rs2153809530
|
|
|
NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)
|
|
|
|
NM_182961.4(SYNE1):c.17801del (p.Thr5934fs)
|
|
|
|
NM_182961.4(SYNE1):c.18141_18144del (p.Thr6048fs)
|
rs2153732048
|
|
|
NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter)
|
rs2153709458
|
|
|
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter)
|
rs910956017
|
|
|
NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)
|
|
|
|
NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
|
|
|
|
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter)
|
rs1258745040
|
|
|
NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)
|
|
|
|
NM_182961.4(SYNE1):c.19444del (p.Arg6482fs)
|
rs2153619687
|
|
|
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter)
|
rs1057520134
|
|
|
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs)
|
rs1385280819
|
|
|
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter)
|
rs766499430
|
|
|
NM_182961.4(SYNE1):c.20179del (p.Asp6727fs)
|
rs2153537904
|
|
|
NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)
|
|
|
|
NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)
|
|
|
|
NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
|
|
|
|
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter)
|
rs138032057
|
|
|
NM_182961.4(SYNE1):c.21819del (p.Asp7273fs)
|
|
|
|
NM_182961.4(SYNE1):c.225+1del
|
rs2154353746
|
|
|
NM_182961.4(SYNE1):c.23461-1G>A
|
rs1586909309
|
|
|
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
|
|
|
|
NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
|
|
|
|
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)
|
rs1586296730
|
|
|
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His)
|
rs119103246
|
|
|
NM_182961.4(SYNE1):c.24537del (p.Leu8180fs)
|
|
|
|
NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)
|
|
|
|
NM_182961.4(SYNE1):c.24977-13_24996del
|
|
|
|
NM_182961.4(SYNE1):c.25258C>T (p.Arg8420Ter)
|
|
|
|
NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
|
|
|
|
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)
|
rs2098713648
|
|
|
NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
|
|
|
|
NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter)
|
rs2154254291
|
|
|
NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
|
|
|
|
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer)
|
rs1554721227
|
|
|
NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)
|
|
|
|
NM_182961.4(SYNE1):c.3925C>T (p.Arg1309Ter)
|
|
|
|
NM_182961.4(SYNE1):c.4044_4047del (p.Asn1348fs)
|
rs2098527248
|
|
|
NM_182961.4(SYNE1):c.4327del (p.Met1443fs)
|
|
|
|
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs)
|
rs794727577
|
|
|
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter)
|
rs757744079
|
|
|
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)
|
rs988770583
|
|
|
NM_182961.4(SYNE1):c.4975_4976+8del
|
rs1592490234
|
|
|
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter)
|
rs2154194664
|
|
|
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)
|
rs1466752822
|
|
|
NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs)
|
rs2154182611
|
|
|
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
|
|
|
|
NM_182961.4(SYNE1):c.5895del (p.Leu1966fs)
|
rs2098158268
|
|
|
NM_182961.4(SYNE1):c.6376del (p.Ser2126fs)
|
rs2154170060
|
|
|
NM_182961.4(SYNE1):c.639del (p.His214fs)
|
rs1412791793
|
|
|
NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter)
|
rs1417491327
|
|
|
NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter)
|
rs2154151091
|
|
|
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)
|
rs2154331501
|
|
|
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
|
|
|
|
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
|
|
|
|
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
|
|
|
|
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter)
|
rs946657984
|
|
|
NM_182961.4(SYNE1):c.8636del (p.Lys2879fs)
|
rs2097516516
|
|
|
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter)
|
rs2154115529
|
|
|
NM_182961.4(SYNE1):c.8885del (p.Val2962fs)
|
rs750544827
|
|
|
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)
|
|
|
|
NM_198271.5(LMOD3):c.1004A>G (p.Gln335Arg)
|
rs1057519129
|
|
|
NM_198271.5(LMOD3):c.1020_1023del (p.Thr341fs)
|
rs778840325
|
|
|
NM_198271.5(LMOD3):c.102del (p.Glu34fs)
|
rs2092412254
|
|
|
NM_198271.5(LMOD3):c.1069G>T (p.Glu357Ter)
|
rs724159965
|
|
|
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs)
|
rs727502799
|
|
|
NM_198271.5(LMOD3):c.1100ACA[1] (p.Asn368del)
|
rs727502798
|
|
|
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.1342C>T (p.Gln448Ter)
|
rs2092391598
|
|
|
NM_198271.5(LMOD3):c.138dup (p.Ser47fs)
|
rs727502797
|
|
|
NM_198271.5(LMOD3):c.1472dup (p.Arg492fs)
|
rs2107525795
|
|
|
NM_198271.5(LMOD3):c.154del (p.Gly51_Met52insTer)
|
rs1369933918
|
|
|
NM_198271.5(LMOD3):c.1628G>T (p.Arg543Leu)
|
rs199655993
|
|
|
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
|
|
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NM_198271.5(LMOD3):c.780del (p.Asn261fs)
|
|
|
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NM_198271.5(LMOD3):c.80_95del (p.Asn26_Leu27insTer)
|
rs1212229943
|
|
|
NM_198271.5(LMOD3):c.882dup (p.Asp295fs)
|
|
|
|
NM_198271.5(LMOD3):c.944_945del (p.Leu315fs)
|
|
|
|
NM_198271.5(LMOD3):c.971del (p.Gly324fs)
|
rs2107526351
|
|
|
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter)
|
rs886037741
|
|
|
NM_198721.4(COL25A1):c.1598del (p.Pro533fs)
|
|
|
|
NM_198721.4:c.368-5122_708+6063del
|
|
|
|
NM_198859.4(PRICKLE2):c.380del (p.Gly127fs)
|
rs797045065
|
|
|
NM_201378.4(PLEC):c.1_9del (p.Met1_Gly3del)
|
rs864309673
|
|
|
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter)
|
rs2132991341
|
|
|
NM_201384.3(PLEC):c.10702G>T (p.Glu3568Ter)
|
|
|
|
NM_201384.3(PLEC):c.11187dup (p.Thr3730fs)
|
|
|
|
NM_201384.3(PLEC):c.1188_1192dup (p.Val398fs)
|
|
|
|
NM_201384.3(PLEC):c.11962dup (p.Glu3988fs)
|
rs864309674
|
|
|
NM_201384.3(PLEC):c.12201C>G (p.Tyr4067Ter)
|
|
|
|
NM_201384.3(PLEC):c.1240C>T (p.Gln414Ter)
|
rs1554719990
|
|
|
NM_201384.3(PLEC):c.12418C>T (p.Arg4140Ter)
|
rs1554671979
|
|
|
NM_201384.3(PLEC):c.12517G>T (p.Glu4173Ter)
|
|
|
|
NM_201384.3(PLEC):c.12926dup (p.Arg4310fs)
|
rs2130817714
|
|
|
NM_201384.3(PLEC):c.13106C>A (p.Ser4369Ter)
|
rs1554669959
|
|
|
NM_201384.3(PLEC):c.1465_1471del (p.Asn489fs)
|
rs2131949494
|
|
|
NM_201384.3(PLEC):c.1675C>T (p.Arg559Ter)
|
|
|
|
NM_201384.3(PLEC):c.2069_2073del (p.Arg690fs)
|
|
|
|
NM_201384.3(PLEC):c.2475dup (p.Asp826Ter)
|
|
|
|
NM_201384.3(PLEC):c.2503C>T (p.Gln835Ter)
|
rs2131772658
|
|
|
NM_201384.3(PLEC):c.2551del (p.Val851fs)
|
rs2131767962
|
|
|
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1])
|
rs786205252
|
|
|
NM_201384.3(PLEC):c.2623C>T (p.Gln875Ter)
|
|
|
|
NM_201384.3(PLEC):c.2917G>T (p.Glu973Ter)
|
|
|
|
NM_201384.3(PLEC):c.3874C>T (p.Gln1292Ter)
|
rs2131581257
|
|
|
NM_201384.3(PLEC):c.3973G>T (p.Glu1325Ter)
|
|
|
|
NM_201384.3(PLEC):c.4468C>T (p.Arg1490Ter)
|
rs1554702689
|
|
|
NM_201384.3(PLEC):c.448C>T (p.Gln150Ter)
|
|
|
|
NM_201384.3(PLEC):c.4534C>T (p.Gln1512Ter)
|
|
|
|
NM_201384.3(PLEC):c.4606C>T (p.Gln1536Ter)
|
rs2131471759
|
|
|
NM_201384.3(PLEC):c.4903C>T (p.Gln1635Ter)
|
|
|
|
NM_201384.3(PLEC):c.5024_5031del (p.Arg1675fs)
|
rs786205254
|
|
|
NM_201384.3(PLEC):c.5170C>T (p.Gln1724Ter)
|
rs2131422085
|
|
|
NM_201384.3(PLEC):c.5192dup (p.Leu1732fs)
|
|
|
|
NM_201384.3(PLEC):c.535C>T (p.Arg179Ter)
|
|
|
|
NM_201384.3(PLEC):c.5645_5646del (p.Glu1882fs)
|
|
|
|
NM_201384.3(PLEC):c.5689C>T (p.Gln1897Ter)
|
|
|
|
NM_201384.3(PLEC):c.5734del (p.Leu1912fs)
|
rs786205253
|
|
|
NM_201384.3(PLEC):c.5775_5782dup (p.Leu1928fs)
|
rs786205251
|
|
|
NM_201384.3(PLEC):c.6025del (p.Glu2009fs)
|
|
|
|
NM_201384.3(PLEC):c.6088C>T (p.Gln2030Ter)
|
rs387906801
|
|
|
NM_201384.3(PLEC):c.6217C>T (p.Gln2073Ter)
|
|
|
|
NM_201384.3(PLEC):c.6370C>T (p.Gln2124Ter)
|
|
|
|
NM_201384.3(PLEC):c.6510del (p.His2170fs)
|
rs2131325419
|
|
|
NM_201384.3(PLEC):c.7078G>T (p.Glu2360Ter)
|
rs2131284343
|
|
|
NM_201384.3(PLEC):c.7180C>T (p.Arg2394Ter)
|
rs886044894
|
|
|
NM_201384.3(PLEC):c.7312C>T (p.Arg2438Ter)
|
|
|
|
NM_201384.3(PLEC):c.7336G>T (p.Glu2446Ter)
|
rs376827900
|
|
|
NM_201384.3(PLEC):c.7425+1G>A
|
|
|
|
NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs)
|
rs1554689309
|
|
|
NM_201384.3(PLEC):c.7964_7968del (p.Ala2655fs)
|
|
|
|
NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs)
|
rs1186518181
|
|
|
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter)
|
rs1554686620
|
|
|
NM_201384.3(PLEC):c.8363_8366del (p.Leu2788fs)
|
|
|
|
NM_201384.3(PLEC):c.8776del (p.Glu2926fs)
|
|
|
|
NM_201384.3(PLEC):c.8807_8832dup (p.Phe2945fs)
|
|
|
|
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter)
|
rs137853161
|
|
|
NM_201384.3(PLEC):c.9022C>T (p.Arg3008Ter)
|
rs1410984638
|
|
|
NM_201384.3(PLEC):c.949del (p.Leu317fs)
|
|
|
|
NM_201384.3(PLEC):c.9558_9559del (p.Glu3188fs)
|
rs1554681167
|
|
|
NM_201384.3(PLEC):c.9586C>T (p.Gln3196Ter)
|
|
|
|
NM_213599.3(ANO5):c.1045C>T (p.Gln349Ter)
|
rs2133704072
|
|
|
NM_213599.3(ANO5):c.1088G>A (p.Trp363Ter)
|
rs1554929301
|
|
|
NM_213599.3(ANO5):c.108_109del (p.Glu36fs)
|
rs886044020
|
|
|
NM_213599.3(ANO5):c.1158del (p.Phe386fs)
|
rs1564936489
|
|
|
NM_213599.3(ANO5):c.1179G>A (p.Trp393Ter)
|
|
|
|
NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter)
|
rs1554930267
|
|
|
NM_213599.3(ANO5):c.1222del (p.Leu408fs)
|
rs1853968715
|
|
|
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)
|
rs754889480
|
|
|
NM_213599.3(ANO5):c.1409T>G (p.Met470Arg)
|
rs1403946332
|
|
|
NM_213599.3(ANO5):c.1516del (p.Ser506fs)
|
rs1302414683
|
|
|
NM_213599.3(ANO5):c.1520del (p.Phe507fs)
|
rs794727158
|
|
|
NM_213599.3(ANO5):c.1531C>T (p.Gln511Ter)
|
rs1486335553
|
|
|
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile)
|
rs281865467
|
|
|
NM_213599.3(ANO5):c.1544C>A (p.Ser515Ter)
|
rs1854126127
|
|
|
NM_213599.3(ANO5):c.1627dup (p.Met543fs)
|
rs281865480
|
|
|
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter)
|
rs747719953
|
|
|
NM_213599.3(ANO5):c.1656T>G (p.Tyr552Ter)
|
rs2133747497
|
|
|
NM_213599.3(ANO5):c.1680del (p.Met560fs)
|
|
|
|
NM_213599.3(ANO5):c.1690C>T (p.Gln564Ter)
|
rs2133747657
|
|
|
NM_213599.3(ANO5):c.1716C>A (p.Cys572Ter)
|
rs368389717
|
|
|
NM_213599.3(ANO5):c.1737dup (p.Gly580fs)
|
rs759064817
|
|
|
NM_213599.3(ANO5):c.1755T>A (p.Tyr585Ter)
|
rs1364860348
|
|
|
NM_213599.3(ANO5):c.1784del (p.Glu595fs)
|
|
|
|
NM_213599.3(ANO5):c.1794_1798dup (p.Glu600fs)
|
|
|
|
NM_213599.3(ANO5):c.1873G>T (p.Gly625Ter)
|
|
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
|
NM_213599.3(ANO5):c.1924C>T (p.Arg642Ter)
|
rs146341538
|
|
|
NM_213599.3(ANO5):c.1955A>G (p.Tyr652Cys)
|
rs563666662
|
|
|
NM_213599.3(ANO5):c.1964G>A (p.Trp655Ter)
|
|
|
|
NM_213599.3(ANO5):c.1965G>A (p.Trp655Ter)
|
|
|
|
NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys)
|
rs760137559
|
|
|
NM_213599.3(ANO5):c.2004del (p.Leu669fs)
|
rs886043172
|
|
|
NM_213599.3(ANO5):c.201_205del (p.Ser67fs)
|
rs794727745
|
|
|
NM_213599.3(ANO5):c.2116C>T (p.Arg706Ter)
|
rs768835530
|
|
|
NM_213599.3(ANO5):c.2172_2178del (p.Ala724_His725insTer)
|
rs794727231
|
|
|
NM_213599.3(ANO5):c.2193_2197del (p.Gln731fs)
|
rs746738154
|
|
|
NM_213599.3(ANO5):c.2236-2_2238dup
|
|
|
|
NM_213599.3(ANO5):c.2273_2280dup (p.Tyr761delinsValTer)
|
|
|
|
NM_213599.3(ANO5):c.22G>T (p.Glu8Ter)
|
rs1191668273
|
|
|
NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs)
|
rs137854528
|
|
|
NM_213599.3(ANO5):c.246del (p.Phe82fs)
|
|
|
|
NM_213599.3(ANO5):c.258C>A (p.Tyr86Ter)
|
rs747146523
|
|
|
NM_213599.3(ANO5):c.284_285del (p.Glu95fs)
|
|
|
|
NM_213599.3(ANO5):c.294+5G>A
|
rs2133589044
|
|
|
NM_213599.3(ANO5):c.299del (p.Arg100fs)
|
rs1064793358
|
|
|
NM_213599.3(ANO5):c.304_308del (p.Lys102fs)
|
rs776859202
|
|
|
NM_213599.3(ANO5):c.340del (p.Glu114fs)
|
|
|
|
NM_213599.3(ANO5):c.352del (p.Glu118fs)
|
rs878854367
|
|
|
NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)
|
|
|
|
NM_213599.3(ANO5):c.412G>T (p.Glu138Ter)
|
rs1554924356
|
|
|
NM_213599.3(ANO5):c.431_432del (p.Ala144fs)
|
|
|
|
NM_213599.3(ANO5):c.738C>G (p.Tyr246Ter)
|
rs570341380
|
|
|
NM_213599.3(ANO5):c.766C>T (p.Gln256Ter)
|
rs794727981
|
|
|
NM_213599.3(ANO5):c.773_774delinsAA (p.Trp258Ter)
|
rs2133663216
|
|
|
NM_213599.3(ANO5):c.774G>A (p.Trp258Ter)
|
|
|
|
NM_213599.3(ANO5):c.775A>T (p.Lys259Ter)
|
rs1590266227
|
|
|
NM_213599.3(ANO5):c.813C>G (p.Tyr271Ter)
|
rs1380525804
|
|
|
NM_213599.3(ANO5):c.823C>T (p.Gln275Ter)
|
rs766994696
|
|
|
NM_213599.3(ANO5):c.835C>T (p.Arg279Ter)
|
rs1564930625
|
|
|
NM_213599.3(ANO5):c.873_876del (p.Ile292fs)
|
rs1458677325
|
|
|
NM_213599.3(ANO5):c.898dup (p.Ile300fs)
|
rs1383346134
|
|
|
NM_213599.3(ANO5):c.986T>G (p.Leu329Ter)
|
|
|
|
NM_213599.3(ANO5):c.989T>A (p.Leu330Ter)
|
rs373814281
|
|
|
NM_213599.3(ANO5):c.989dup (p.Leu330fs)
|
rs398124626
|
|
|
NM_213720.2(CHCHD10):c.[43C>A ;172G>C]
|
|
|
|
NM_213720.3(CHCHD10):c.172G>C (p.Gly58Arg)
|
rs730880033
|
|
|
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)
|
rs730880030
|
|
|
NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu)
|
rs2145927350
|
|
|
NP_000531.2:p.4894Q
|
|
|
|
NP_000531.2:p.F4860del
|
|
|
|
NP_000531.2:p.F4906del
|
|
|
|
NP_000531.2:p.G4893R
|
|
|
|
NP_000531.2:p.L4647del
|
|
|
|
SGCA, TYR134TER
|
|
|
|
Single allele
|
|
|
|
TTN:c.106668delA (p.Lys35556Argfs)
|
rs587776772
|
|
|
c.1228G>A
|
|
|
|
c.52_53delCT
|
|
|
|
m.10438A>G
|
rs121434456
|
|
|
m.10450A>G
|
rs387906731
|
|
|
m.4300A>G
|
rs121434470
|
|
|
m.4369_4370insA
|
rs199476140
|
|
|
m.5556G>A
|
rs387906736
|
|
|
m.611G>A
|
rs118203886
|
|
|
m.8361G>A
|
rs118192104
|
|
|
p.L4796C
|
|
|
|
p.M2434K
|
|
|