NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)
|
rs17103671
|
0.02649
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)
|
rs114814747
|
0.00964
|
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)
|
rs144372453
|
0.00352
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_006901.4(MYO9A):c.6848G>A (p.Arg2283His)
|
rs142345927
|
0.00245
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)
|
rs199823175
|
0.00210
|
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)
|
rs121909352
|
0.00200
|
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)
|
rs104894047
|
0.00191
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)
|
rs41298838
|
0.00148
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)
|
rs116471343
|
0.00096
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)
|
rs150726175
|
0.00087
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00073
|
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_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)
|
rs138911275
|
0.00066
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
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_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)
|
rs138613460
|
0.00057
|
NM_002941.4(ROBO1):c.4565C>T (p.Ser1522Leu)
|
rs199958211
|
0.00055
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)
|
rs121917814
|
0.00049
|
NM_003244.4(TGIF1):c.320A>T (p.Gln107Leu)
|
rs28939693
|
0.00048
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)
|
rs121912553
|
0.00038
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys)
|
rs62638625
|
0.00037
|
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly)
|
rs199476092
|
0.00036
|
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_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)
|
rs115209243
|
0.00031
|
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)
|
rs201322234
|
0.00030
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)
|
rs61740289
|
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_198576.4(AGRN):c.2563G>A (p.Val855Met)
|
rs200684031
|
0.00027
|
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly)
|
rs199473676
|
0.00026
|
NM_016146.6(TRAPPC4):c.454+3A>G
|
rs375776811
|
0.00025
|
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
|
rs575822089
|
0.00023
|
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)
|
rs776005417
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)
|
rs371720347
|
0.00022
|
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)
|
rs121917828
|
0.00022
|
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
|
rs61750168
|
0.00019
|
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg)
|
rs121908449
|
0.00019
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val)
|
rs587777778
|
0.00019
|
NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter)
|
rs121918117
|
0.00018
|
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)
|
rs199476083
|
0.00018
|
NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly)
|
rs150726107
|
0.00017
|
NM_032237.5(POMK):c.136C>T (p.Arg46Ter)
|
rs202036744
|
0.00017
|
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser)
|
rs140494140
|
0.00017
|
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro)
|
rs191205969
|
0.00016
|
NM_001378778.1(MPDZ):c.4469del (p.Gln1490fs)
|
rs781251438
|
0.00016
|
NM_001848.3(COL6A1):c.1741-6G>A
|
rs200334019
|
0.00016
|
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs)
|
rs777989874
|
0.00016
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
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_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)
|
rs1191496583
|
0.00014
|
NM_000751.3(CHRND):c.821-2A>C
|
rs762875734
|
0.00014
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
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_025114.4(CEP290):c.289G>T (p.Glu97Ter)
|
rs386834153
|
0.00013
|
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)
|
rs137853137
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter)
|
rs371526758
|
0.00012
|
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)
|
rs769114543
|
0.00012
|
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)
|
rs61752873
|
0.00011
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)
|
rs62638214
|
0.00011
|
NM_001378778.1(MPDZ):c.3211C>T (p.Arg1071Ter)
|
rs376078512
|
0.00011
|
NM_003322.6(TULP1):c.148del (p.Glu50fs)
|
rs779910894
|
0.00011
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_005868.6(BET1):c.134del (p.Ala45fs)
|
rs541754296
|
0.00011
|
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)
|
rs767890671
|
0.00011
|
NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter)
|
rs368313959
|
0.00011
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)
|
rs771336246
|
0.00011
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_025099.6(CTC1):c.680C>T (p.Ala227Val)
|
rs199473673
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)
|
rs201434993
|
0.00010
|
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs)
|
rs1325957874
|
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_001127178.3(PIGG):c.2005C>T (p.Arg669Cys)
|
rs372392424
|
0.00010
|
NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter)
|
rs62637037
|
0.00010
|
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)
|
rs149977726
|
0.00010
|
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)
|
rs121917840
|
0.00010
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00010
|
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
0.00010
|
NM_020549.5(CHAT):c.629T>C (p.Leu210Pro)
|
rs121912820
|
0.00010
|
NM_058179.4(PSAT1):c.420G>A (p.Trp140Ter)
|
rs1008314756
|
0.00010
|
NM_152443.3(RDH12):c.701G>A (p.Arg234His)
|
rs750636662
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_173630.4(RTTN):c.80G>A (p.Cys27Tyr)
|
rs201884120
|
0.00010
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
|
rs774130993
|
0.00009
|
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)
|
rs1429137932
|
0.00009
|
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu)
|
rs62638197
|
0.00009
|
NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00009
|
NM_001171613.2(PREPL):c.1753+1G>T
|
rs148092524
|
0.00009
|
NM_002454.3(MTRR):c.1769+1G>A
|
rs778738842
|
0.00009
|
NM_014336.5(AIPL1):c.277-2A>G
|
rs140808549
|
0.00009
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_198576.4(AGRN):c.1343G>A (p.Arg448Gln)
|
rs772102866
|
0.00009
|
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)
|
rs62653011
|
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_005198.5(CHKB):c.581G>A (p.Arg194Gln)
|
rs139818555
|
0.00008
|
NM_005215.4(DCC):c.2260G>A (p.Val754Met)
|
rs775565634
|
0.00008
|
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys)
|
rs761622978
|
0.00008
|
NM_019023.5(PRMT7):c.1056-1G>T
|
rs201824659
|
0.00008
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
NM_000823.4(GHRHR):c.57+1G>A
|
rs2302022
|
0.00007
|
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp)
|
rs373062274
|
0.00007
|
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)
|
rs121913037
|
0.00007
|
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)
|
rs147277149
|
0.00007
|
NM_002454.3(MTRR):c.903+469T>C
|
rs893229476
|
0.00007
|
NM_025099.6(CTC1):c.2611G>A (p.Val871Met)
|
rs369255297
|
0.00007
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)
|
rs104894471
|
0.00007
|
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)
|
rs62636264
|
0.00007
|
NM_000193.4(SHH):c.676G>A (p.Ala226Thr)
|
rs104894043
|
0.00006
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)
|
rs764605140
|
0.00006
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_000400.4(ERCC2):c.2171T>C (p.Met724Thr)
|
rs763701580
|
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_001001557.4(GDF6):c.169G>C (p.Asp57His)
|
rs397514725
|
0.00006
|
NM_001077365.2(POMT1):c.579_580del (p.Val195fs)
|
rs1032439203
|
0.00006
|
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)
|
rs121918165
|
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_001198800.3(ASCC1):c.382C>T (p.Arg128Ter)
|
rs183415577
|
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_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_004204.5(PIGQ):c.942+1G>A
|
rs200661329
|
0.00006
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
NM_005198.5(CHKB):c.151C>T (p.Gln51Ter)
|
rs373091820
|
0.00006
|
NM_005993.5(TBCD):c.1130G>A (p.Arg377Gln)
|
rs764085684
|
0.00006
|
NM_005993.5(TBCD):c.1433A>G (p.Tyr478Cys)
|
rs756576748
|
0.00006
|
NM_006261.5(PROP1):c.150del (p.Arg53fs)
|
rs587776683
|
0.00006
|
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
NM_016213.5(TRIP4):c.950G>A (p.Arg317Gln)
|
rs200549601
|
0.00006
|
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)
|
rs80044281
|
0.00006
|
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
|
rs121908185
|
0.00006
|
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)
|
rs142908436
|
0.00006
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter)
|
rs777172978
|
0.00006
|
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser)
|
rs367579275
|
0.00006
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
NM_198506.5(LRIT3):c.1318C>T (p.Arg440Ter)
|
rs397509378
|
0.00006
|
NM_198576.4(AGRN):c.4735G>A (p.Gly1579Ser)
|
rs556296275
|
0.00006
|
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)
|
rs764256655
|
0.00006
|
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp)
|
rs200637525
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter)
|
rs62638624
|
0.00005
|
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr)
|
rs387906794
|
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_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)
|
rs779241085
|
0.00005
|
NM_001163435.3(TBCK):c.2060-2A>G
|
rs62321379
|
0.00005
|
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter)
|
rs200761047
|
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_003244.4(TGIF1):c.83C>G (p.Ser28Cys)
|
rs121909066
|
0.00005
|
NM_003322.6(TULP1):c.187G>T (p.Gly63Ter)
|
rs757725696
|
0.00005
|
NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs)
|
rs751050956
|
0.00005
|
NM_005149.3(TBX19):c.856C>T (p.Arg286Ter)
|
rs74315376
|
0.00005
|
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu)
|
rs755177846
|
0.00005
|
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)
|
rs121917839
|
0.00005
|
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser)
|
rs142326926
|
0.00005
|
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala)
|
rs767982852
|
0.00005
|
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys)
|
rs36038536
|
0.00005
|
NM_018418.5(SPATA7):c.1160G>A (p.Arg387Lys)
|
rs868032740
|
0.00005
|
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)
|
rs140287375
|
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_025099.6(CTC1):c.2959C>T (p.Arg987Trp)
|
rs202138550
|
0.00005
|
NM_025099.6(CTC1):c.3425T>A (p.Leu1142His)
|
rs201455840
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)
|
rs527800020
|
0.00005
|
NM_198576.4(AGRN):c.1385-42G>C
|
rs200373411
|
0.00005
|
NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser)
|
rs145162376
|
0.00005
|
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)
|
rs61749668
|
0.00004
|
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
|
rs61751282
|
0.00004
|
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)
|
rs61751277
|
0.00004
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
|
rs121913603
|
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_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter)
|
rs201033437
|
0.00004
|
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys)
|
rs145955590
|
0.00004
|
NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr)
|
rs62638208
|
0.00004
|
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)
|
rs794727208
|
0.00004
|
NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly)
|
rs184599884
|
0.00004
|
NM_001164508.2(NEB):c.21417+3A>G
|
rs148950085
|
0.00004
|
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)
|
rs200731870
|
0.00004
|
NM_001164508.2(NEB):c.9619-2A>G
|
rs375145370
|
0.00004
|
NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter)
|
rs775072385
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_001286535.2(RAD9B):c.1199dup (p.Arg401fs)
|
rs748778907
|
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.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_003244.4(TGIF1):c.451A>G (p.Thr151Ala)
|
rs121909068
|
0.00004
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
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_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)
|
rs201452975
|
0.00004
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00004
|
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)
|
rs200197424
|
0.00004
|
NM_005592.4(MUSK):c.79+2T>G
|
rs200783529
|
0.00004
|
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His)
|
rs543016186
|
0.00004
|
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys)
|
rs121434296
|
0.00004
|
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)
|
rs750323424
|
0.00004
|
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)
|
rs367585605
|
0.00004
|
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)
|
rs754980119
|
0.00004
|
NM_012193.4(FZD4):c.313A>G (p.Met105Val)
|
rs80358284
|
0.00004
|
NM_017619.4(RNPC3):c.259C>T (p.Gln87Ter)
|
rs1332137733
|
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_020366.4(RPGRIP1):c.1111C>T (p.Arg371Ter)
|
rs375859404
|
0.00004
|
NM_020366.4(RPGRIP1):c.1468-2A>G
|
rs751342895
|
0.00004
|
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)
|
rs192003551
|
0.00004
|
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter)
|
rs75459701
|
0.00004
|
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)
|
rs372760913
|
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_022787.4(NMNAT1):c.619C>T (p.Arg207Trp)
|
rs142968179
|
0.00004
|
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met)
|
rs201994921
|
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_025099.6(CTC1):c.1683dup (p.Lys562Ter)
|
rs1053748363
|
0.00004
|
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)
|
rs772170760
|
0.00004
|
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)
|
rs370119681
|
0.00004
|
NM_032237.5(POMK):c.773A>G (p.Gln258Arg)
|
rs397509386
|
0.00004
|
NM_144988.4(ALG14):c.310C>T (p.Arg104Ter)
|
rs367570129
|
0.00004
|
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter)
|
rs150115958
|
0.00004
|
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
|
rs28940315
|
0.00004
|
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)
|
rs116733939
|
0.00004
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)
|
rs768633670
|
0.00004
|
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)
|
rs387906989
|
0.00004
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)
|
rs62636273
|
0.00004
|
NM_000080.4(CHRNE):c.-95G>A
|
rs990457690
|
0.00003
|
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs)
|
rs1268475945
|
0.00003
|
NM_000080.4(CHRNE):c.971del (p.Ile324fs)
|
rs879255562
|
0.00003
|
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)
|
rs1200134985
|
0.00003
|
NM_000193.4(SHH):c.708C>A (p.Ser236Arg)
|
rs587778806
|
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.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)
|
rs373037737
|
0.00003
|
NM_000306.4(POU1F1):c.472G>C (p.Ala158Pro)
|
rs104893756
|
0.00003
|
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)
|
rs61751281
|
0.00003
|
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)
|
rs121917745
|
0.00003
|
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)
|
rs886042220
|
0.00003
|
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)
|
rs61752905
|
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.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.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00003
|
NM_000823.4(GHRHR):c.431T>A (p.Leu144His)
|
rs121918118
|
0.00003
|
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)
|
rs121434304
|
0.00003
|
NM_000843.4(GRM6):c.448G>A (p.Gly150Ser)
|
rs62638202
|
0.00003
|
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)
|
rs281875236
|
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_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile)
|
rs142863074
|
0.00003
|
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)
|
rs376699648
|
0.00003
|
NM_001163809.2(WDR81):c.4668_4669del (p.Gly1557fs)
|
rs771116788
|
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_001171613.2(PREPL):c.888+1G>A
|
rs758019788
|
0.00003
|
NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His)
|
rs775810789
|
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.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_001371986.1(UNC80):c.5296C>T (p.Pro1766Ser)
|
rs869025316
|
0.00003
|
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile)
|
rs376039938
|
0.00003
|
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
0.00003
|
NM_001519.4(BRF1):c.667C>T (p.Arg223Trp)
|
rs370270828
|
0.00003
|
NM_001519.4(BRF1):c.776C>T (p.Thr259Met)
|
rs373957300
|
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.856G>A (p.Glu286Lys)
|
rs866001342
|
0.00003
|
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter)
|
rs141365537
|
0.00003
|
NM_003322.6(TULP1):c.1495+1G>A
|
rs281865168
|
0.00003
|
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)
|
rs773968778
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_005413.4(SIX3):c.499G>T (p.Ala167Ser)
|
rs387906868
|
0.00003
|
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)
|
rs140277700
|
0.00003
|
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys)
|
rs121917843
|
0.00003
|
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter)
|
rs121917844
|
0.00003
|
NM_006790.3(MYOT):c.17G>A (p.Arg6His)
|
rs387906882
|
0.00003
|
NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys)
|
rs374155761
|
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_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)
|
rs373145711
|
0.00003
|
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)
|
rs878853271
|
0.00003
|
NM_016213.5(TRIP4):c.760C>T (p.Arg254Ter)
|
rs869312827
|
0.00003
|
NM_016213.5(TRIP4):c.832C>T (p.Arg278Ter)
|
rs761865592
|
0.00003
|
NM_017619.4(RNPC3):c.1420C>A (p.Pro474Thr)
|
rs370930012
|
0.00003
|
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr)
|
rs149170494
|
0.00003
|
NM_020451.3(SELENON):c.1010+1G>A
|
rs908682527
|
0.00003
|
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)
|
rs769234940
|
0.00003
|
NM_021728.4(OTX2):c.698A>G (p.Asn233Ser)
|
rs370761964
|
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_023110.3(FGFR1):c.880G>A (p.Glu294Lys)
|
rs528376963
|
0.00003
|
NM_025099.6(CTC1):c.1058del (p.Ser353fs)
|
rs199473675
|
0.00003
|
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter)
|
rs374877315
|
0.00003
|
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)
|
rs761922947
|
0.00003
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)
|
rs575767207
|
0.00003
|
NM_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs)
|
rs747569790
|
0.00003
|
NM_058179.4(PSAT1):c.870-1G>T
|
rs376824714
|
0.00003
|
NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter)
|
rs778497200
|
0.00003
|
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)
|
rs374913800
|
0.00003
|
NM_152393.4(KLHL40):c.602G>A (p.Trp201Ter)
|
rs397509420
|
0.00003
|
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)
|
rs761231974
|
0.00003
|
NM_152443.3(RDH12):c.146C>T (p.Thr49Met)
|
rs28940314
|
0.00003
|
NM_152443.3(RDH12):c.250C>T (p.Arg84Ter)
|
rs1349849938
|
0.00003
|
NM_152443.3(RDH12):c.697G>C (p.Val233Leu)
|
rs140257538
|
0.00003
|
NM_152443.3(RDH12):c.698T>A (p.Val233Asp)
|
rs144148976
|
0.00003
|
NM_152564.5(VPS13B):c.4569T>A (p.Tyr1523Ter)
|
rs1361356353
|
0.00003
|
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)
|
rs201128942
|
0.00003
|
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)
|
rs770987150
|
0.00003
|
NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter)
|
rs397509379
|
0.00003
|
NM_198576.4(AGRN):c.4999G>A (p.Val1667Met)
|
rs770750909
|
0.00003
|
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg)
|
rs780209390
|
0.00003
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter)
|
rs1409490389
|
0.00003
|
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)
|
rs375040930
|
0.00003
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
|
rs62636275
|
0.00003
|
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter)
|
rs763324776
|
0.00003
|
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp)
|
rs121908464
|
0.00003
|
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)
|
rs776927709
|
0.00002
|
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)
|
rs28929768
|
0.00002
|
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)
|
rs372635387
|
0.00002
|
NM_000080.4(CHRNE):c.803-2A>G
|
rs1320610655
|
0.00002
|
NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter)
|
rs769818541
|
0.00002
|
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)
|
rs756730335
|
0.00002
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)
|
rs121917744
|
0.00002
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)
|
rs1420672586
|
0.00002
|
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)
|
rs62642584
|
0.00002
|
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)
|
rs61752896
|
0.00002
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)
|
rs377176361
|
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.5116C>T (p.Arg1706Ter)
|
rs758775001
|
0.00002
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs)
|
rs1293303410
|
0.00002
|
NM_000539.3(RHO):c.491C>T (p.Ala164Val)
|
rs104893793
|
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_000554.6(CRX):c.206G>A (p.Arg69His)
|
rs775073228
|
0.00002
|
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)
|
rs104894673
|
0.00002
|
NM_000747.3(CHRNB1):c.248G>A (p.Trp83Ter)
|
rs766823872
|
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_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
NM_001127178.3(PIGG):c.1994del (p.Cys665fs)
|
rs755634856
|
0.00002
|
NM_001127178.3(PIGG):c.2041C>T (p.Arg681Trp)
|
rs899791968
|
0.00002
|
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)
|
rs778210210
|
0.00002
|
NM_001163435.3(TBCK):c.1897+1G>A
|
rs374319146
|
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_001171613.2(PREPL):c.427C>T (p.Arg143Ter)
|
rs1361739547
|
0.00002
|
NM_001171613.2(PREPL):c.616C>T (p.Arg206Ter)
|
rs145356495
|
0.00002
|
NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter)
|
rs866050664
|
0.00002
|
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met)
|
rs751097758
|
0.00002
|
NM_001244710.2(GFPT1):c.686-2A>G
|
rs1011196447
|
0.00002
|
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys)
|
rs387906862
|
0.00002
|
NM_001256789.3(CACNA1F):c.1276+34G>A
|
rs782575860
|
0.00002
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001300759.2(TRIM36):c.1486C>A (p.Pro496Thr)
|
rs773607884
|
0.00002
|
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp)
|
rs765848129
|
0.00002
|
NM_001371986.1(UNC80):c.1513C>T (p.Arg505Ter)
|
rs767633598
|
0.00002
|
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys)
|
rs387907277
|
0.00002
|
NM_001378778.1(MPDZ):c.4003+1G>A
|
rs767038098
|
0.00002
|
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser)
|
rs774263134
|
0.00002
|
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp)
|
rs1065764
|
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_002454.3(MTRR):c.766G>T (p.Glu256Ter)
|
rs375908206
|
0.00002
|
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)
|
rs267606959
|
0.00002
|
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)
|
rs587779351
|
0.00002
|
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter)
|
rs765769406
|
0.00002
|
NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg)
|
rs121434478
|
0.00002
|
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter)
|
rs730882240
|
0.00002
|
NM_004204.5(PIGQ):c.968_969del (p.Leu323fs)
|
rs747661902
|
0.00002
|
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter)
|
rs62130681
|
0.00002
|
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs)
|
rs1471550984
|
0.00002
|
NM_004855.5(PIGB):c.695G>A (p.Arg232His)
|
rs758196959
|
0.00002
|
NM_005055.5(RAPSN):c.-210A>G
|
rs786200905
|
0.00002
|
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)
|
rs104894294
|
0.00002
|
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)
|
rs751889864
|
0.00002
|
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)
|
rs137853100
|
0.00002
|
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)
|
rs144610914
|
0.00002
|
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)
|
rs267606948
|
0.00002
|
NM_012233.3(RAB3GAP1):c.899+1G>A
|
rs587777152
|
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_014336.5(AIPL1):c.421C>T (p.Gln141Ter)
|
rs200125117
|
0.00002
|
NM_014336.5(AIPL1):c.94C>T (p.Arg32Ter)
|
rs139305531
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
NM_018418.5(SPATA7):c.1373del (p.Val458fs)
|
rs753697847
|
0.00002
|
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)
|
rs767745816
|
0.00002
|
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)
|
rs775935766
|
0.00002
|
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg)
|
rs535922252
|
0.00002
|
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)
|
rs565837539
|
0.00002
|
NM_020366.4(RPGRIP1):c.2711-2A>G
|
rs766443371
|
0.00002
|
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)
|
rs377215510
|
0.00002
|
NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp)
|
rs763325435
|
0.00002
|
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)
|
rs372066126
|
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_025099.6(CTC1):c.1360del (p.Glu454fs)
|
rs748852501
|
0.00002
|
NM_025114.4(CEP290):c.1066-1G>A
|
rs965522059
|
0.00002
|
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)
|
rs776645403
|
0.00002
|
NM_025114.4(CEP290):c.2249T>G (p.Leu750Ter)
|
rs137852833
|
0.00002
|
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)
|
rs770126103
|
0.00002
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)
|
rs760540562
|
0.00002
|
NM_032237.5(POMK):c.905T>A (p.Val302Asp)
|
rs199756983
|
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_033100.4(CDHR1):c.524dup (p.Asn176fs)
|
rs781781440
|
0.00002
|
NM_058179.4(PSAT1):c.664C>T (p.Arg222Ter)
|
rs765723196
|
0.00002
|
NM_145200.5(CABP4):c.292C>T (p.Arg98Ter)
|
rs777555935
|
0.00002
|
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter)
|
rs531851447
|
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_152443.3(RDH12):c.481C>T (p.Arg161Trp)
|
rs759408031
|
0.00002
|
NM_152490.5(B3GALNT2):c.427C>T (p.Arg143Ter)
|
rs762259872
|
0.00002
|
NM_152564.5(VPS13B):c.1079del (p.Asp360fs)
|
rs767518464
|
0.00002
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)
|
rs180177354
|
0.00002
|
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)
|
rs764776104
|
0.00002
|
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)
|
rs386834078
|
0.00002
|
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)
|
rs140353201
|
0.00002
|
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)
|
rs786204533
|
0.00002
|
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs)
|
rs763909903
|
0.00002
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)
|
rs386834113
|
0.00002
|
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln)
|
rs200575329
|
0.00002
|
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)
|
rs765468645
|
0.00002
|
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter)
|
rs760752847
|
0.00002
|
NM_194277.3(FRMD7):c.875T>C (p.Leu292Pro)
|
rs192346335
|
0.00002
|
NM_198271.5(LMOD3):c.131_132del (p.Pro44fs)
|
rs1300427865
|
0.00002
|
NM_198506.5(LRIT3):c.983G>A (p.Cys328Tyr)
|
rs376610215
|
0.00002
|
NM_198576.4(AGRN):c.3973_3979dup (p.Gln1327fs)
|
rs1645159594
|
0.00002
|
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)
|
rs778627080
|
0.00002
|
NM_201253.3(CRB1):c.1439G>C (p.Cys480Ser)
|
rs62636265
|
0.00002
|
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)
|
rs763111500
|
0.00002
|
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)
|
rs267598278
|
0.00002
|
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)
|
rs145282040
|
0.00002
|
NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe)
|
rs768713412
|
0.00002
|
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)
|
rs757740068
|
0.00002
|
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)
|
rs760544654
|
0.00002
|
NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp)
|
rs760100325
|
0.00002
|
NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter)
|
rs587783652
|
0.00002
|
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met)
|
rs137852799
|
0.00001
|
NM_000079.4(CHRNA1):c.913G>A (p.Val305Ile)
|
rs137852804
|
0.00001
|
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)
|
rs374391312
|
0.00001
|
NM_000080.4(CHRNE):c.-96C>T
|
rs748144899
|
0.00001
|
NM_000080.4(CHRNE):c.1033-1G>C
|
rs755303686
|
0.00001
|
NM_000080.4(CHRNE):c.1033-2A>T
|
rs786204773
|
0.00001
|
NM_000080.4(CHRNE):c.1164del (p.Lys388fs)
|
rs1222065184
|
0.00001
|
NM_000080.4(CHRNE):c.1220-1G>A
|
rs373710822
|
0.00001
|
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu)
|
rs121909512
|
0.00001
|
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)
|
rs121909514
|
0.00001
|
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)
|
rs758687208
|
0.00001
|
NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter)
|
rs748103983
|
0.00001
|
NM_000081.4(LYST):c.1507C>T (p.Arg503Ter)
|
rs1558282769
|
0.00001
|
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter)
|
rs80338652
|
0.00001
|
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)
|
rs61749676
|
0.00001
|
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)
|
rs748798324
|
0.00001
|
NM_000180.4(GUCY2D):c.1566+1G>A
|
rs1348467293
|
0.00001
|
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)
|
rs1290420698
|
0.00001
|
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)
|
rs61750161
|
0.00001
|
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)
|
rs750889782
|
0.00001
|
NM_000180.4(GUCY2D):c.2383C>T (p.Arg795Trp)
|
rs765910207
|
0.00001
|
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln)
|
rs61750171
|
0.00001
|
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)
|
rs61750172
|
0.00001
|
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)
|
rs1555635778
|
0.00001
|
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn)
|
rs201587670
|
0.00001
|
NM_000180.4(GUCY2D):c.3224+1G>C
|
rs757823463
|
0.00001
|
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)
|
rs281865409
|
0.00001
|
NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter)
|
rs1403798841
|
0.00001
|
NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter)
|
rs1308509257
|
0.00001
|
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)
|
rs137853341
|
0.00001
|
NM_000193.4(SHH):c.664G>A (p.Asp222Asn)
|
rs587778805
|
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.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr)
|
rs199476091
|
0.00001
|
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)
|
rs970768801
|
0.00001
|
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)
|
rs80338700
|
0.00001
|
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter)
|
rs761275346
|
0.00001
|
NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys)
|
rs104893764
|
0.00001
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
NM_000329.3(RPE65):c.11+2T>G
|
rs778768116
|
0.00001
|
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)
|
rs62636298
|
0.00001
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)
|
rs1395763356
|
0.00001
|
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)
|
rs749242996
|
0.00001
|
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)
|
rs62653015
|
0.00001
|
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)
|
rs281865285
|
0.00001
|
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)
|
rs1645929674
|
0.00001
|
NM_000329.3(RPE65):c.493C>T (p.Gln165Ter)
|
rs1202384396
|
0.00001
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)
|
rs752058510
|
0.00001
|
NM_000329.3(RPE65):c.644-2A>C
|
rs61752891
|
0.00001
|
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)
|
rs61752895
|
0.00001
|
NM_000329.3(RPE65):c.725+2T>A
|
rs1355979496
|
0.00001
|
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)
|
rs61752904
|
0.00001
|
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)
|
rs1171545533
|
0.00001
|
NM_000329.3(RPE65):c.938A>G (p.His313Arg)
|
rs1375943362
|
0.00001
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)
|
rs761471961
|
0.00001
|
NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)
|
rs1645879569
|
0.00001
|
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys)
|
rs1188070167
|
0.00001
|
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)
|
rs121908557
|
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_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000426.4(LAMA2):c.112+1G>A
|
rs398123367
|
0.00001
|
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)
|
rs773209126
|
0.00001
|
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
|
rs202247791
|
0.00001
|
NM_000426.4(LAMA2):c.2749+2dup
|
rs759144210
|
0.00001
|
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)
|
rs121913577
|
0.00001
|
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter)
|
rs535635043
|
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.4645C>T (p.Arg1549Ter)
|
rs121913575
|
0.00001
|
NM_000426.4(LAMA2):c.5234+1G>A
|
rs781376927
|
0.00001
|
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)
|
rs398123378
|
0.00001
|
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)
|
rs398123383
|
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_000515.5(GH1):c.626G>A (p.Arg209His)
|
rs137853223
|
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.7268T>A (p.Met2423Lys)
|
rs118192174
|
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_000554.6(CRX):c.118C>T (p.Arg40Trp)
|
rs749738655
|
0.00001
|
NM_000554.6(CRX):c.119G>A (p.Arg40Gln)
|
rs771450991
|
0.00001
|
NM_000554.6(CRX):c.121C>T (p.Arg41Trp)
|
rs104894672
|
0.00001
|
NM_000554.6(CRX):c.122G>A (p.Arg41Gln)
|
rs61748436
|
0.00001
|
NM_000554.6(CRX):c.128G>A (p.Arg43His)
|
rs771736389
|
0.00001
|
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter)
|
rs121909505
|
0.00001
|
NM_000751.3(CHRND):c.236T>A (p.Ile79Lys)
|
rs121909509
|
0.00001
|
NM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys)
|
rs376948691
|
0.00001
|
NM_000823.4(GHRHR):c.725T>G (p.Phe242Cys)
|
rs121918119
|
0.00001
|
NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter)
|
rs387907138
|
0.00001
|
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)
|
rs387907009
|
0.00001
|
NM_001023570.4(IQCB1):c.812del (p.Ser271fs)
|
rs748559081
|
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_001079872.2(CUL4B):c.95C>T (p.Pro32Leu)
|
rs869320682
|
0.00001
|
NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs)
|
rs387907321
|
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_001101.5(ACTB):c.478A>G (p.Thr160Ala)
|
rs1784814961
|
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_001110556.2(FLNA):c.1966C>T (p.Leu656Phe)
|
rs137853311
|
0.00001
|
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)
|
rs137853312
|
0.00001
|
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)
|
rs797045044
|
0.00001
|
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)
|
rs748370008
|
0.00001
|
NM_001122769.3(LCA5):c.142A>T (p.Arg48Ter)
|
rs1766524422
|
0.00001
|
NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter)
|
rs772573829
|
0.00001
|
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter)
|
rs781035395
|
0.00001
|
NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter)
|
rs151017794
|
0.00001
|
NM_001122769.3(LCA5):c.795T>G (p.Tyr265Ter)
|
rs1453987164
|
0.00001
|
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)
|
rs1178243254
|
0.00001
|
NM_001127178.3(PIGG):c.1640G>A (p.Trp547Ter)
|
rs547951371
|
0.00001
|
NM_001127178.3(PIGG):c.1803del (p.Asp601fs)
|
rs1377893089
|
0.00001
|
NM_001127178.3(PIGG):c.2569C>T (p.Gln857Ter)
|
rs1294683568
|
0.00001
|
NM_001127178.3(PIGG):c.2625dup (p.Asp876fs)
|
rs1491240980
|
0.00001
|
NM_001127178.3(PIGG):c.352C>T (p.Arg118Ter)
|
rs782124562
|
0.00001
|
NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter)
|
rs1418085145
|
0.00001
|
NM_001127178.3(PIGG):c.624G>A (p.Trp208Ter)
|
rs1553880152
|
0.00001
|
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter)
|
rs752545577
|
0.00001
|
NM_001127178.3(PIGG):c.928C>T (p.Gln310Ter)
|
rs869320772
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
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_001171613.2(PREPL):c.-42del
|
rs749853265
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1734C>T
|
rs374594354
|
0.00001
|
NM_001195553.2(DCX):c.587G>A (p.Arg196His)
|
rs56030372
|
0.00001
|
NM_001198800.3(ASCC1):c.311-2A>G
|
rs1281256224
|
0.00001
|
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter)
|
rs769501930
|
0.00001
|
NM_001198800.3(ASCC1):c.626+1G>A
|
rs747595523
|
0.00001
|
NM_001198800.3(ASCC1):c.871+1G>A
|
rs763845791
|
0.00001
|
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His)
|
rs189717232
|
0.00001
|
NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln)
|
rs922548333
|
0.00001
|
NM_001244710.2(GFPT1):c.686dup (p.Ala229_Arg230insTer)
|
rs1380136176
|
0.00001
|
NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter)
|
rs1574066341
|
0.00001
|
NM_001244710.2(GFPT1):c.964C>T (p.Arg322Ter)
|
rs375268742
|
0.00001
|
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)
|
rs768701595
|
0.00001
|
NM_001252024.2(TRPM1):c.1898C>A (p.Pro633His)
|
rs267607139
|
0.00001
|
NM_001252024.2(TRPM1):c.2087+2T>C
|
rs766862238
|
0.00001
|
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)
|
rs886039559
|
0.00001
|
NM_001256789.3(CACNA1F):c.2543+1G>A
|
rs886044841
|
0.00001
|
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter)
|
rs782034481
|
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.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_001278116.2(L1CAM):c.2254G>A (p.Val752Met)
|
rs137852525
|
0.00001
|
NM_001346022.3(USP45):c.935G>A (p.Arg312Gln)
|
rs202240410
|
0.00001
|
NM_001365999.1(SZT2):c.2929+1G>A
|
rs1295389410
|
0.00001
|
NM_001365999.1(SZT2):c.9874C>T (p.Arg3292Ter)
|
rs1302034044
|
0.00001
|
NM_001367561.1(DOCK7):c.1501C>T (p.Arg501Ter)
|
rs1174717913
|
0.00001
|
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs)
|
rs770283117
|
0.00001
|
NM_001367561.1(DOCK7):c.6265G>T (p.Glu2089Ter)
|
rs587777485
|
0.00001
|
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter)
|
rs200659479
|
0.00001
|
NM_001371986.1(UNC80):c.1696C>T (p.Arg566Ter)
|
rs1036056877
|
0.00001
|
NM_001371986.1(UNC80):c.286C>T (p.Arg96Ter)
|
rs538956139
|
0.00001
|
NM_001371986.1(UNC80):c.3358-1G>C
|
rs1186997983
|
0.00001
|
NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter)
|
rs864321622
|
0.00001
|
NM_001371986.1(UNC80):c.4063C>T (p.Arg1355Ter)
|
rs750226213
|
0.00001
|
NM_001371986.1(UNC80):c.520C>T (p.Arg174Ter)
|
rs751913925
|
0.00001
|
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp)
|
rs1250097723
|
0.00001
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
NM_001378778.1(MPDZ):c.1735C>T (p.Arg579Ter)
|
rs571799365
|
0.00001
|
NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs)
|
rs747068627
|
0.00001
|
NM_001378964.1(CDON):c.2818A>C (p.Ser940Arg)
|
rs369673018
|
0.00001
|
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu)
|
rs1057521151
|
0.00001
|
NM_001382.4(DPAGT1):c.26dup (p.Met9fs)
|
rs768656482
|
0.00001
|
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=)
|
rs1555207826
|
0.00001
|
NM_001382.4(DPAGT1):c.699dup (p.Thr234fs)
|
rs397515321
|
0.00001
|
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)
|
rs772988029
|
0.00001
|
NM_001382.4(DPAGT1):c.791T>G (p.Val264Gly)
|
rs387907245
|
0.00001
|
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His)
|
rs768416381
|
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_001519.4(BRF1):c.677C>T (p.Ser226Leu)
|
rs606231416
|
0.00001
|
NM_001519.4(BRF1):c.875C>A (p.Pro292His)
|
rs606231450
|
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.600del (p.Lys201fs)
|
rs727504448
|
0.00001
|
NM_001927.4(DES):c.634C>T (p.Arg212Ter)
|
rs781590560
|
0.00001
|
NM_001927.4(DES):c.885G>A (p.Trp295Ter)
|
rs146755676
|
0.00001
|
NM_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.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_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_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)
|
rs786205550
|
0.00001
|
NM_002242.4(KCNJ13):c.655C>T (p.Gln219Ter)
|
rs1475176373
|
0.00001
|
NM_002334.4(LRP4):c.316+1G>A
|
rs780336679
|
0.00001
|
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His)
|
rs746136135
|
0.00001
|
NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter)
|
rs121908667
|
0.00001
|
NM_002335.4(LRP5):c.2737dup (p.Cys913fs)
|
rs886043590
|
0.00001
|
NM_002335.4(LRP5):c.442C>T (p.Gln148Ter)
|
rs1396340484
|
0.00001
|
NM_002335.4(LRP5):c.731C>T (p.Thr244Met)
|
rs397514665
|
0.00001
|
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
|
rs137853062
|
0.00001
|
NM_002454.3(MTRR):c.1554_1557+3del
|
rs754619743
|
0.00001
|
NM_002454.3(MTRR):c.230del (p.Gln77fs)
|
rs1408257020
|
0.00001
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00001
|
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)
|
rs1353165398
|
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_003070.5(SMARCA2):c.2564G>A (p.Arg855Gln)
|
rs1471482709
|
0.00001
|
NM_003244.4(TGIF1):c.485C>T (p.Ser162Phe)
|
rs121909069
|
0.00001
|
NM_003322.6(TULP1):c.100C>T (p.Arg34Ter)
|
rs1331834680
|
0.00001
|
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)
|
rs121909076
|
0.00001
|
NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter)
|
rs751589956
|
0.00001
|
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp)
|
rs121909077
|
0.00001
|
NM_003620.4(PPM1D):c.1281G>A (p.Trp427Ter)
|
rs1064797099
|
0.00001
|
NM_003632.3(CNTNAP1):c.2290C>T (p.Arg764Cys)
|
rs761805324
|
0.00001
|
NM_003632.3(CNTNAP1):c.967T>C (p.Cys323Arg)
|
rs768554986
|
0.00001
|
NM_003865.3(HESX1):c.18G>C (p.Gln6His)
|
rs121909173
|
0.00001
|
NM_003865.3(HESX1):c.240del (p.Glu81fs)
|
rs777833871
|
0.00001
|
NM_003865.3(HESX1):c.308T>A (p.Leu103Ter)
|
rs777223697
|
0.00001
|
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly)
|
rs754137696
|
0.00001
|
NM_003865.3(HESX1):c.357+2T>C
|
rs575112817
|
0.00001
|
NM_003865.3(HESX1):c.478C>T (p.Arg160Cys)
|
rs28936702
|
0.00001
|
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val)
|
rs768420488
|
0.00001
|
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr)
|
rs387906729
|
0.00001
|
NM_004187.5(KDM5C):c.2296C>T (p.Arg766Trp)
|
rs199422238
|
0.00001
|
NM_004204.5(PIGQ):c.690-2A>G
|
rs587777543
|
0.00001
|
NM_004341.5(CAD):c.2995G>A (p.Val999Met)
|
rs1475014505
|
0.00001
|
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln)
|
rs763410987
|
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_004434.3(EML1):c.412C>T (p.Arg138Ter)
|
rs886037935
|
0.00001
|
NM_004727.3(SLC24A1):c.2401G>T (p.Glu801Ter)
|
rs1410075831
|
0.00001
|
NM_004855.5(PIGB):c.212G>A (p.Arg71Gln)
|
rs369838467
|
0.00001
|
NM_004855.5(PIGB):c.392T>G (p.Leu131Ter)
|
rs923907091
|
0.00001
|
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)
|
rs104894300
|
0.00001
|
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)
|
rs368695664
|
0.00001
|
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)
|
rs560525099
|
0.00001
|
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)
|
rs121909255
|
0.00001
|
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)
|
rs761584017
|
0.00001
|
NM_005055.5(RAPSN):c.531+1G>T
|
rs1421354085
|
0.00001
|
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)
|
rs1595903667
|
0.00001
|
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)
|
rs559933584
|
0.00001
|
NM_005055.5(RAPSN):c.7C>T (p.Gln3Ter)
|
rs2076433607
|
0.00001
|
NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter)
|
rs140528998
|
0.00001
|
NM_005198.5(CHKB):c.1031+3G>C
|
rs751176079
|
0.00001
|
NM_005249.5(FOXG1):c.239dup (p.Ala81fs)
|
rs796052474
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_005482.3(PIGK):c.479A>C (p.Tyr160Ser)
|
rs1164656857
|
0.00001
|
NM_005482.3(PIGK):c.610G>C (p.Asp204His)
|
rs747692385
|
0.00001
|
NM_005482.3(PIGK):c.823T>C (p.Cys275Arg)
|
rs1654968072
|
0.00001
|
NM_005592.4(MUSK):c.2165T>C (p.Val722Ala)
|
rs1238400476
|
0.00001
|
NM_005592.4(MUSK):c.2170C>T (p.Arg724Ter)
|
rs1255531873
|
0.00001
|
NM_005592.4(MUSK):c.2446C>T (p.Arg816Ter)
|
rs1487680236
|
0.00001
|
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser)
|
rs551423795
|
0.00001
|
NM_005592.4(MUSK):c.496C>T (p.Arg166Ter)
|
rs763656507
|
0.00001
|
NM_005868.6(BET1):c.152T>G (p.Ile51Ser)
|
rs372513869
|
0.00001
|
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)
|
rs368321176
|
0.00001
|
NM_005957.5(MTHFR):c.1167-2del
|
rs780014899
|
0.00001
|
NM_005957.5(MTHFR):c.1632+2T>G
|
rs749765738
|
0.00001
|
NM_005957.5(MTHFR):c.1753-18G>A
|
rs777661576
|
0.00001
|
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)
|
rs749490263
|
0.00001
|
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)
|
rs748571395
|
0.00001
|
NM_005984.5(SLC25A1):c.740G>A (p.Arg247Gln)
|
rs781908532
|
0.00001
|
NM_005993.5(TBCD):c.1423G>A (p.Ala475Thr)
|
rs775014444
|
0.00001
|
NM_005993.5(TBCD):c.2006+5G>A
|
rs1284192515
|
0.00001
|
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys)
|
rs181969865
|
0.00001
|
NM_005993.5(TBCD):c.2761G>A (p.Ala921Thr)
|
rs886041085
|
0.00001
|
NM_005993.5(TBCD):c.686T>G (p.Leu229Arg)
|
rs778417127
|
0.00001
|
NM_005993.5(TBCD):c.967C>T (p.Arg323Ter)
|
rs773790897
|
0.00001
|
NM_006017.3(PROM1):c.1984-1G>T
|
rs373680665
|
0.00001
|
NM_006063.3(KLHL41):c.1027C>T (p.Gln343Ter)
|
rs779140230
|
0.00001
|
NM_006261.5(PROP1):c.218G>A (p.Arg73His)
|
rs121917842
|
0.00001
|
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)
|
rs766673446
|
0.00001
|
NM_006261.5(PROP1):c.63del (p.Leu22fs)
|
rs780134343
|
0.00001
|
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe)
|
rs911707459
|
0.00001
|
NM_006420.3(ARFGEF2):c.5254C>T (p.Arg1752Ter)
|
rs1380925561
|
0.00001
|
NM_006565.4(CTCF):c.1103G>A (p.Arg368His)
|
rs1259610303
|
0.00001
|
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)
|
rs769256568
|
0.00001
|
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met)
|
rs121907988
|
0.00001
|
NM_006623.4(PHGDH):c.357-1G>A
|
rs766427173
|
0.00001
|
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)
|
rs121908458
|
0.00001
|
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter)
|
rs727503132
|
0.00001
|
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter)
|
rs727503123
|
0.00001
|
NM_007217.4(PDCD10):c.283C>T (p.Arg95Ter)
|
rs1357917630
|
0.00001
|
NM_007217.4(PDCD10):c.474+5G>A
|
rs1553759139
|
0.00001
|
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)
|
rs111033570
|
0.00001
|
NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser)
|
rs111033571
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)
|
rs766629205
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)
|
rs532964185
|
0.00001
|
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)
|
rs764260054
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)
|
rs587777167
|
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_014336.5(AIPL1):c.265T>C (p.Cys89Arg)
|
rs1264794214
|
0.00001
|
NM_014336.5(AIPL1):c.276+1G>A
|
rs150097891
|
0.00001
|
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
|
rs201883601
|
0.00001
|
NM_014336.5(AIPL1):c.97_104dup (p.Phe35delinsLeuTer)
|
rs776129172
|
0.00001
|
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys)
|
rs1114167292
|
0.00001
|
NM_014846.4(WASHC5):c.2008C>T (p.Arg670Ter)
|
rs762401591
|
0.00001
|
NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter)
|
rs1462319941
|
0.00001
|
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter)
|
rs754463353
|
0.00001
|
NM_014996.4(PLCH1):c.2101C>T (p.Arg701Ter)
|
rs757653002
|
0.00001
|
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe)
|
rs751218423
|
0.00001
|
NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter)
|
rs397515401
|
0.00001
|
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)
|
rs267607042
|
0.00001
|
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)
|
rs267607038
|
0.00001
|
NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro)
|
rs2061098856
|
0.00001
|
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys)
|
rs766665093
|
0.00001
|
NM_016111.4(TELO2):c.1826G>A (p.Arg609His)
|
rs754162070
|
0.00001
|
NM_016111.4(TELO2):c.1842+5G>A
|
rs758551997
|
0.00001
|
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu)
|
rs369656775
|
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_017619.4(RNPC3):c.1504C>T (p.Arg502Ter)
|
rs918108896
|
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.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_017777.4(MKS1):c.1166-2A>C
|
rs1488635637
|
0.00001
|
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)
|
rs559590419
|
0.00001
|
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)
|
rs765998879
|
0.00001
|
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter)
|
rs145741622
|
0.00001
|
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)
|
rs200788163
|
0.00001
|
NM_018418.5(SPATA7):c.1161-1G>C
|
rs779101498
|
0.00001
|
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)
|
rs75895925
|
0.00001
|
NM_018418.5(SPATA7):c.19+2T>A
|
rs866837129
|
0.00001
|
NM_018684.4(ZC4H2):c.53G>A (p.Arg18Lys)
|
rs1057520299
|
0.00001
|
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly)
|
rs762515973
|
0.00001
|
NM_019023.5(PRMT7):c.1480T>C (p.Trp494Arg)
|
rs751670999
|
0.00001
|
NM_019066.5(MAGEL2):c.277C>T (p.Pro93Ser)
|
rs899176705
|
0.00001
|
NM_020366.4(RPGRIP1):c.1219C>T (p.Gln407Ter)
|
rs775425686
|
0.00001
|
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter)
|
rs577932201
|
0.00001
|
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)
|
rs759940113
|
0.00001
|
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)
|
rs1429786931
|
0.00001
|
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter)
|
rs398124354
|
0.00001
|
NM_020366.4(RPGRIP1):c.282_283dup (p.Ala95fs)
|
rs1881002905
|
0.00001
|
NM_020366.4(RPGRIP1):c.2895+1G>T
|
rs748072501
|
0.00001
|
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter)
|
rs752175052
|
0.00001
|
NM_020366.4(RPGRIP1):c.3617+1G>T
|
rs771116776
|
0.00001
|
NM_020366.4(RPGRIP1):c.564A>G (p.Glu188=)
|
rs574462207
|
0.00001
|
NM_020366.4(RPGRIP1):c.663dup (p.Asn222Ter)
|
rs1233376985
|
0.00001
|
NM_020366.4(RPGRIP1):c.800+1G>A
|
rs376500610
|
0.00001
|
NM_020366.4(RPGRIP1):c.898del (p.Val300fs)
|
rs1566674893
|
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_020549.5(CHAT):c.1258C>T (p.Arg420Cys)
|
rs121912822
|
0.00001
|
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)
|
rs121912816
|
0.00001
|
NM_020549.5(CHAT):c.1493C>T (p.Ser498Leu)
|
rs121912821
|
0.00001
|
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter)
|
rs371470622
|
0.00001
|
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu)
|
rs121912817
|
0.00001
|
NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter)
|
rs369251527
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter)
|
rs1458796820
|
0.00001
|
NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys)
|
rs201439531
|
0.00001
|
NM_020549.5(CHAT):c.631C>G (p.Pro211Ala)
|
rs121912815
|
0.00001
|
NM_020771.4(HACE1):c.1396C>T (p.Gln466Ter)
|
rs1337798545
|
0.00001
|
NM_020771.4(HACE1):c.655C>T (p.Arg219Ter)
|
rs869025280
|
0.00001
|
NM_020771.4(HACE1):c.805C>T (p.Arg269Ter)
|
rs750371878
|
0.00001
|
NM_021252.5(RAB18):c.284C>G (p.Thr95Arg)
|
rs587777151
|
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_022787.4(NMNAT1):c.457C>G (p.Leu153Val)
|
rs387907293
|
0.00001
|
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)
|
rs748902766
|
0.00001
|
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)
|
rs375110174
|
0.00001
|
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser)
|
rs778606847
|
0.00001
|
NM_022787.4(NMNAT1):c.817A>G (p.Asn273Asp)
|
rs387907291
|
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_025099.6(CTC1):c.1753C>T (p.Gln585Ter)
|
rs952398755
|
0.00001
|
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp)
|
rs373905859
|
0.00001
|
NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter)
|
rs1987206904
|
0.00001
|
NM_025099.6(CTC1):c.775G>A (p.Val259Met)
|
rs387907080
|
0.00001
|
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter)
|
rs397514660
|
0.00001
|
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)
|
rs1186821575
|
0.00001
|
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)
|
rs760415289
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
NM_025114.4(CEP290):c.297+1G>T
|
rs878853360
|
0.00001
|
NM_025114.4(CEP290):c.3185del (p.Leu1062fs)
|
rs863225189
|
0.00001
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)
|
rs1468942944
|
0.00001
|
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)
|
rs1412133967
|
0.00001
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)
|
rs757641323
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
0.00001
|
NM_025114.4(CEP290):c.6012-2A>G
|
rs555755221
|
0.00001
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)
|
rs755800734
|
0.00001
|
NM_031443.4(CCM2):c.839C>G (p.Ser280Ter)
|
rs1437280900
|
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_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_033343.4(LHX4):c.250C>T (p.Arg84Cys)
|
rs121912642
|
0.00001
|
NM_033343.4(LHX4):c.452-2A>C
|
rs786204780
|
0.00001
|
NM_052867.4(NALCN):c.1434+1G>A
|
rs2041614157
|
0.00001
|
NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter)
|
rs376152742
|
0.00001
|
NM_052867.4(NALCN):c.3022C>T (p.Arg1008Ter)
|
rs766421214
|
0.00001
|
NM_052867.4(NALCN):c.4236C>A (p.Tyr1412Ter)
|
rs1158771233
|
0.00001
|
NM_058004.4(PI4KA):c.2386C>T (p.Arg796Ter)
|
rs777006911
|
0.00001
|
NM_058004.4(PI4KA):c.2575-1G>A
|
rs775166339
|
0.00001
|
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys)
|
rs1351749039
|
0.00001
|
NM_058004.4(PI4KA):c.5560G>A (p.Asp1854Asn)
|
rs747119727
|
0.00001
|
NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala)
|
rs118203967
|
0.00001
|
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)
|
rs119466000
|
0.00001
|
NM_133259.4(LRPPRC):c.1582+7A>G
|
rs863225446
|
0.00001
|
NM_133259.4(LRPPRC):c.864+2T>C
|
rs863224053
|
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_152393.4(KLHL40):c.1498C>T (p.Arg500Cys)
|
rs758188096
|
0.00001
|
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys)
|
rs397509419
|
0.00001
|
NM_152443.3(RDH12):c.133A>G (p.Thr45Ala)
|
rs1225487694
|
0.00001
|
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter)
|
rs778571042
|
0.00001
|
NM_152443.3(RDH12):c.210dup (p.Arg71fs)
|
rs797044761
|
0.00001
|
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)
|
rs368489658
|
0.00001
|
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter)
|
rs752242512
|
0.00001
|
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)
|
rs202126574
|
0.00001
|
NM_152443.3(RDH12):c.437T>A (p.Val146Asp)
|
rs116649873
|
0.00001
|
NM_152443.3(RDH12):c.446T>C (p.Leu149Pro)
|
rs747257567
|
0.00001
|
NM_152443.3(RDH12):c.451C>G (p.His151Asp)
|
rs104894475
|
0.00001
|
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)
|
rs121434337
|
0.00001
|
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)
|
rs971610277
|
0.00001
|
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter)
|
rs753074829
|
0.00001
|
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)
|
rs745871149
|
0.00001
|
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)
|
rs28940313
|
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_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.11131C>T (p.Gln3711Ter)
|
rs1451352816
|
0.00001
|
NM_152564.5(VPS13B):c.11216-1G>C
|
rs1057517441
|
0.00001
|
NM_152564.5(VPS13B):c.11364del (p.Ala3789fs)
|
rs1485428182
|
0.00001
|
NM_152564.5(VPS13B):c.1141C>T (p.Gln381Ter)
|
rs774376104
|
0.00001
|
NM_152564.5(VPS13B):c.11501del (p.Met3834fs)
|
rs1394681818
|
0.00001
|
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)
|
rs747217399
|
0.00001
|
NM_152564.5(VPS13B):c.11746-1G>A
|
rs372327659
|
0.00001
|
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)
|
rs933746831
|
0.00001
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter)
|
rs120074152
|
0.00001
|
NM_152564.5(VPS13B):c.3022C>T (p.Gln1008Ter)
|
rs567092790
|
0.00001
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter)
|
rs1156390688
|
0.00001
|
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)
|
rs386834086
|
0.00001
|
NM_152564.5(VPS13B):c.4745+1G>A
|
rs1469729130
|
0.00001
|
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter)
|
rs386834093
|
0.00001
|
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)
|
rs780598553
|
0.00001
|
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter)
|
rs1057516633
|
0.00001
|
NM_152564.5(VPS13B):c.5539_5540del (p.Lys1847fs)
|
rs1829394659
|
0.00001
|
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs)
|
rs886041586
|
0.00001
|
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter)
|
rs386834099
|
0.00001
|
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs)
|
rs754016783
|
0.00001
|
NM_152564.5(VPS13B):c.6077T>A (p.Leu2026Ter)
|
rs1293372026
|
0.00001
|
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter)
|
rs371364257
|
0.00001
|
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)
|
rs748404277
|
0.00001
|
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter)
|
rs120074150
|
0.00001
|
NM_152564.5(VPS13B):c.7429+1G>A
|
rs386834106
|
0.00001
|
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)
|
rs386834107
|
0.00001
|
NM_152564.5(VPS13B):c.7968G>A (p.Trp2656Ter)
|
rs766484806
|
0.00001
|
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
|
rs386834110
|
0.00001
|
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter)
|
rs386834112
|
0.00001
|
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter)
|
rs755996065
|
0.00001
|
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)
|
rs387907260
|
0.00001
|
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln)
|
rs984651812
|
0.00001
|
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val)
|
rs368001837
|
0.00001
|
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)
|
rs387907246
|
0.00001
|
NM_153033.5(KCTD7):c.827A>G (p.Tyr276Cys)
|
rs141191660
|
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_153747.2(PIGC):c.635T>C (p.Leu212Pro)
|
rs1553259602
|
0.00001
|
NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter)
|
rs786205229
|
0.00001
|
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)
|
rs774694340
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
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_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_174916.3(UBR1):c.1537C>T (p.Gln513Ter)
|
rs119477055
|
0.00001
|
NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter)
|
rs374049779
|
0.00001
|
NM_194277.3(FRMD7):c.1003C>T (p.Arg335Ter)
|
rs137852208
|
0.00001
|
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg)
|
rs137852211
|
0.00001
|
NM_194277.3(FRMD7):c.691T>G (p.Leu231Val)
|
rs387906720
|
0.00001
|
NM_194454.3(KRIT1):c.2026-12A>G
|
rs1041438637
|
0.00001
|
NM_194454.3(KRIT1):c.535C>T (p.Arg179Ter)
|
rs777198867
|
0.00001
|
NM_198271.5(LMOD3):c.1201C>T (p.Arg401Ter)
|
rs724159964
|
0.00001
|
NM_198576.4(AGRN):c.4217_4218del (p.Gln1406fs)
|
rs770470615
|
0.00001
|
NM_201253.3(CRB1):c.1149dup (p.Ile384fs)
|
rs1660517678
|
0.00001
|
NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr)
|
rs746597173
|
0.00001
|
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)
|
rs114342808
|
0.00001
|
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)
|
rs769909288
|
0.00001
|
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
|
rs1271816211
|
0.00001
|
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)
|
rs765676754
|
0.00001
|
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)
|
rs1451348539
|
0.00001
|
NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg)
|
rs539189291
|
0.00001
|
NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser)
|
rs776591659
|
0.00001
|
NM_201253.3(CRB1):c.2549G>T (p.Gly850Val)
|
rs757137398
|
0.00001
|
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)
|
rs62636271
|
0.00001
|
NM_201253.3(CRB1):c.2842+5G>A
|
rs773914330
|
0.00001
|
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe)
|
rs878853367
|
0.00001
|
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)
|
rs62635656
|
0.00001
|
NM_201253.3(CRB1):c.3221T>C (p.Leu1074Ser)
|
rs751303205
|
0.00001
|
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)
|
rs62636276
|
0.00001
|
NM_201253.3(CRB1):c.3419T>A (p.Leu1140Ter)
|
rs1342970033
|
0.00001
|
NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser)
|
rs1031415706
|
0.00001
|
NM_201253.3(CRB1):c.3958C>T (p.Gln1320Ter)
|
rs1246546027
|
0.00001
|
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)
|
rs137853136
|
0.00001
|
NM_201253.3(CRB1):c.4006-10A>G
|
rs766850702
|
0.00001
|
NM_201253.3(CRB1):c.4039del (p.Thr1347fs)
|
rs745422941
|
0.00001
|
NM_201253.3(CRB1):c.653-1G>T
|
rs760287363
|
0.00001
|
NM_201253.3(CRB1):c.852T>A (p.Tyr284Ter)
|
rs1046799192
|
0.00001
|
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)
|
rs778232235
|
0.00001
|
NM_201525.4(ADGRG1):c.1468G>A (p.Glu490Lys)
|
rs556518689
|
0.00001
|
NM_201525.4(ADGRG1):c.1486C>T (p.Arg496Ter)
|
rs746634404
|
0.00001
|
NM_201525.4(ADGRG1):c.235C>T (p.Arg79Ter)
|
rs780718243
|
0.00001
|
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter)
|
rs146278035
|
0.00001
|
NM_201525.4(ADGRG1):c.367C>T (p.Gln123Ter)
|
rs1047016803
|
0.00001
|
NM_201525.4(ADGRG1):c.620+1G>A
|
rs587783660
|
0.00001
|
1 bp del G 7
|
|
|
15q13.3
|
|
|
46;X;t(X;5)(q24;q13)dn
|
|
|
46;XY;t(3;10)(p26.3;q26.3)dn
|
|
|
GATAD2B, ASN195LYSfsTER30
|
|
|
GH1, 6.7-KB DEL
|
|
|
GLI2, 1-BP DEL, NT2274
|
|
|
GRCh37/hg19 12q24.21(chr12:116446308-116638445)
|
|
|
GRCh37/hg19 12q24.21(chr12:116622732-116685976)
|
|
|
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
|
|
|
GRCh37/hg19 13p13-q34(chr13:1-115169878)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)
|
|
|
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:30805785-32686484)x1
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:30854238-32892694)x1
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:30897996-32404614)x1
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:30897996-32442006)x1
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:30918974-32442006)x1
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:30921917-32514980)x1
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:31073668-32446830)
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32446830)
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:31088442-32446830)
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:31098690-32914240)
|
|
|
GRCh37/hg19 16p13.11(chr16:15758011-15761384)
|
|
|
GRCh37/hg19 16p13.3(chr16:3784414-3821324)
|
|
|
GRCh37/hg19 16p13.3(chr16:3794894-3795355)
|
|
|
GRCh37/hg19 17p11.2(chr17:16651292-20286898)
|
|
|
GRCh37/hg19 17p11.2(chr17:16842991-20217316)
|
|
|
GRCh37/hg19 17p11.2(chr17:17145361-20137943)
|
|
|
GRCh37/hg19 17p11.2(chr17:17151140-20187953)
|
|
|
GRCh37/hg19 17p13.3(chr17:1361431-2573023)
|
|
|
GRCh37/hg19 17p13.3(chr17:2339561-2826073)
|
|
|
GRCh37/hg19 17p13.3(chr17:525-1464281)
|
|
|
GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162)
|
|
|
GRCh37/hg19 19q13.33(chr19:48328087-48339179)
|
|
|
GRCh37/hg19 1q21.3(chr1:153701504-154218584)
|
|
|
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
|
|
|
GRCh37/hg19 1q42.11-42.12(chr1:224432682-225142704)
|
|
|
GRCh37/hg19 1q43-44(chr1:240554955-247342593)
|
|
|
GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526)
|
|
|
GRCh37/hg19 21q22.13-22.2(chr21:38741104..40274106)
|
|
|
GRCh37/hg19 22p13(chr22:135350-150557)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18644790-21798907)
|
|
|
GRCh37/hg19 22q11.21(chr22:18644790-21800471)
|
|
|
GRCh37/hg19 22q11.21(chr22:18645353-21800797)
|
|
|
GRCh37/hg19 22q11.21(chr22:18648866-21798907)
|
|
|
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18892575-21460220)
|
|
|
GRCh37/hg19 22q11.21(chr22:18893344-21650280)
|
|
|
GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3
|
|
|
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3
|
|
|
GRCh37/hg19 22q11.21(chr22:18900755-21800277)
|
|
|
GRCh37/hg19 22q11.21(chr22:18901004-21408430)
|
|
|
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18912403-21431174)
|
|
|
GRCh37/hg19 22q11.21(chr22:18912870-21431174)
|
|
|
GRCh37/hg19 22q11.21(chr22:18916842-21798907)
|
|
|
GRCh37/hg19 22q11.21(chr22:18918741-20311922)
|
|
|
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:20609932-21576553)x1
|
|
|
GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313)
|
|
|
GRCh37/hg19 22q12.3(chr22:34152899-34236578)
|
|
|
GRCh37/hg19 2p21(chr2:44494834-44571747)
|
|
|
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
|
|
|
GRCh37/hg19 2q24.3(chr2:165903672-166666206)
|
|
|
GRCh37/hg19 4q24(chr4:107092252-107092428)
|
|
|
GRCh37/hg19 6q25.2-25.3(chr6:155308263-158394005)
|
|
|
GRCh37/hg19 7p22.1(chr7:6385256-6431775)
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GRCh37/hg19 7q36.2-36.3(chr7:154831466-156356088)
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GRCh37/hg19 8q22.2(chr8:100067471-100156392)
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GRCh37/hg19 8q22.2(chr8:100108619-100160324)
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GRCh37/hg19 8q22.2(chr8:100123326-100182391)
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GRCh37/hg19 8q22.2(chr8:100168626-100298366)
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GRCh37/hg19 8q22.2(chr8:100232749-100493790)
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GRCh37/hg19 8q22.2(chr8:100274176-100477297)
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GRCh37/hg19 8q22.2(chr8:100479441-100545102)
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GRCh37/hg19 8q22.2(chr8:100587642-100712137)
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GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1
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GRCh37/hg19 9q34.12(chr9:133553916-133554028)
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GRCh37/hg19 Xp22.33(chrX:61091-787353)
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GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)
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GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)
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GRCh37/hg19 Xq28(chrX:152372767-155233731)
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GRCh37/hg19 Xq28(chrX:153174571-153609996)
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GRCh37/hg19 Xq28(chrX:153217915-153618382)x2
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GRCh37/hg19 Xq28(chrX:153247464-153522710)x3
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GRCh37/hg19 Xq28(chrX:154305031-154307464)
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GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1
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GRCh38/hg38 14q12(chr14:28766690-29666306)x1
|
|
|
GRCh38/hg38 16p13.3(chr16:3727580-3851110)x1
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GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1
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GRCh38/hg38 17p13.1(chr17:7454200-7454618)x0
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GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1
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GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1
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GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1
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GRCh38/hg38 2q35(chr2:219420345-219431647)x1
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GRCh38/hg38 4q24(chr4:106170998-106171368)x0
|
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GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1
|
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|
GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1
|
|
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GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3
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GRCh38/hg38 Xq23(chrX:111250820-111333251)x1
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GRCh38/hg38 Xq28(chrX:153858452-154332213)x2
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GRCh38/hg38 Xq28(chrX:153905292-154361918)
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HNRNPK, IVS16, G-A, +1
|
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|
IKBKG, 2-BP DEL, 1182TT
|
|
|
K146R
|
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|
L1CAM, 1.3-KB DUP
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|
LARGE1, GLN87FS
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|
|
LRPPRC, 8-BP DEL, EXON 35
|
|
|
NC_000001.10:g.(?_10027411)_(10042759_?)del
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NC_000001.10:g.(?_10027411)_(10045246_?)del
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NC_000001.10:g.(?_10032132)_(10032266_?)del
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NC_000001.10:g.(?_10032132)_(10035853_?)del
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|
|
NC_000001.10:g.(?_10035630)_(10041248_?)del
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|
|
NC_000001.10:g.(?_10041069)_(10041248_?)del
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|
|
NC_000001.10:g.(?_10041069)_(10042759_?)del
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|
|
NC_000001.10:g.(?_153753742)_(153791156_?)del
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|
|
NC_000001.10:g.(?_196918585)_(197742062_?)del
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|
|
NC_000001.10:g.(?_197237324)_(197326153_?)del
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|
|
NC_000001.10:g.(?_197237324)_(197447595_?)del
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|
|
NC_000001.10:g.(?_197297542)_(197326153_?)del
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|
|
NC_000001.10:g.(?_197390110)_(197391106_?)del
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|
|
NC_000001.10:g.(?_197390110)_(197398764_?)del
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|
|
NC_000001.10:g.(?_197398094)_(197398754_?)del
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|
|
NC_000001.10:g.(?_197407491)_(197411316_?)del
|
|
|
NC_000001.10:g.(?_197407657)_(197411442_?)del
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|
NC_000001.10:g.(?_197407677)_(197411422_?)del
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|
|
NC_000001.10:g.(?_197407736)_(197423021_?)del
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|
|
NC_000001.10:g.(?_197446784)_(197447595_?)del
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|
|
NC_000001.10:g.(?_211652378)_(211654757_?)del
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|
|
NC_000001.10:g.(?_218520044)_(220986760_?)del
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|
|
NC_000001.10:g.(?_220330592)_(220335630_?)del
|
|
|
NC_000001.10:g.(?_235616382)_(235643485_?)del
|
|
|
NC_000001.10:g.(?_235628933)_(235629051_?)del
|
|
|
NC_000001.10:g.(?_235826240)_(235976381_?)del
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|
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NC_000001.10:g.(?_235827745)_(235827941_?)del
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|
|
NC_000001.10:g.(?_25870190)_(26142209_?)del
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NC_000001.10:g.(?_46654381)_(46656466_?)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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|
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NC_000001.10:g.(?_46663448)_(46664153_?)del
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NC_000001.10:g.(?_62921085)_(63153935_?)del
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|
NC_000001.10:g.(?_62971367)_62980255del
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NC_000001.10:g.(?_68895449)_(68915598_?)del
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NC_000001.10:g.(?_68910194)_(68912563_?)del
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|
|
NC_000001.10:g.(?_68912383)_(68912553_?)del
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|
|
NC_000001.10:g.(?_954503)_(992499_?)del
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NC_000001.10:g.(?_955543)_(2238214_?)del
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|
|
NC_000001.11:g.(?_1020153)_(1313808_?)del
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|
NC_000001.11:g.(?_197084314)_(197478465_?)del
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|
|
NC_000001.11:g.(?_197268194)_(197268492_?)del
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NC_000001.11:g.(?_197268413)_(197357013_?)del
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|
|
NC_000001.11:g.(?_197438537)_(197442544_?)del
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|
|
NC_000001.11:g.(?_235465599)_(235465734_?)del
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|
|
NC_000001.11:g.(?_235662920)_(235782107_?)del
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|
|
NC_000001.11:g.(?_46190463)_(46190794_?)del
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|
NC_000001.11:g.(?_68438187)_(68484090_?)del
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|
NC_000001.11:g.(?_9972074)_(9972188_?)del
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|
NC_000001.11:g.(?_9972074)_(9975775_?)del
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|
|
NC_000001.11:g.(?_9981011)_(9982721_?)del
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|
NC_000001.11:g.62510670CT[1]
|
|
|
NC_000001.11:g.62510670CT[2]
|
|
|
NC_000002.11:g.(?_145147018)_(145753167_?)del
|
|
|
NC_000002.11:g.(?_145153959)_(145158894_?)del
|
|
|
NC_000002.11:g.(?_145274825)_(145274988_?)del
|
|
|
NC_000002.11:g.(?_152380815)_(152384109_?)del
|
|
|
NC_000002.11:g.(?_152408232)_(152432888_?)del
|
|
|
NC_000002.11:g.(?_152417187)_(152418727_?)del
|
|
|
NC_000002.11:g.(?_152466303)_(152563531_?)del
|
|
|
NC_000002.11:g.(?_152466303)_(152955525_?)del
|
|
|
NC_000002.11:g.(?_152470770)_(152554182_?)del
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|
|
NC_000002.11:g.(?_152475955)_(152476286_?)del
|
|
|
NC_000002.11:g.(?_152482028)_(152566297_?)del
|
|
|
NC_000002.11:g.(?_152482028)_(152567072_?)del
|
|
|
NC_000002.11:g.(?_152499078)_(152500653_?)del
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|
|
NC_000002.11:g.(?_152506680)_(152510623_?)del
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|
|
NC_000002.11:g.(?_152524298)_(152525665_?)del
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|
|
NC_000002.11:g.(?_152579876)_(152589670_?)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
|
|
|
NC_000002.11:g.(?_237481970)_(238305470_?)del
|
|
|
NC_000002.11:g.(?_44507855)_(44549039_?)del
|
|
|
NC_000002.11:g.(?_44527090)_(44556271_?)del
|
|
|
NC_000002.11:g.(?_44547318)_(44556271_?)del
|
|
|
NC_000002.11:g.(?_44547318)_(44569711_?)del
|
|
|
NC_000002.11:g.(?_44548495)_(44586854_?)del
|
|
|
NC_000002.11:g.(?_44549870)_(44556251_?)del
|
|
|
NC_000002.11:g.(?_44553841)_(44566512_?)del
|
|
|
NC_000002.11:g.(?_44565470)_(44566522_?)del
|
|
|
NC_000002.11:g.(?_44565470)_(44586854_?)del
|
|
|
NC_000002.11:g.(?_69553299)_(69614213_?)del
|
|
|
NC_000002.11:g.(?_69573016)_(69575486_?)del
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|
|
NC_000002.11:g.(?_69583608)_(69583709_?)del
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|
|
NC_000002.11:g.44559541_44571008del
|
|
|
NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del
|
|
|
NC_000002.12:g.(?_135052292)_(135176396_?)del
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|
|
NC_000002.12:g.(?_144517258)_(144517420_?)del
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|
|
NC_000002.12:g.(?_144517278)_(144517419_?)del
|
|
|
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
|
|
|
NC_000002.12:g.(?_219418453)_(219426000_?)del
|
|
|
NC_000002.12:g.(?_237358501)_(237361194_?)del
|
|
|
NC_000002.12:g.(?_44280696)_(44346410_?)del
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|
|
NC_000002.12:g.(?_44280716)_(44346390_?)del
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|
NC_000002.12:g.(?_44320179)_(44346410_?)del
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|
|
NC_000002.12:g.(?_44321336)_(44346410_?)del
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|
|
NC_000002.12:g.(?_44321336)_(44359735_?)del
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|
|
NC_000002.12:g.(?_44321346)_(44359725_?)del
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|
|
NC_000002.12:g.(?_44359487)_(44359725_?)del
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|
NC_000002.12:g.237345214del
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|
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NC_000002.12:g.43986415_44009956del
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|
NC_000003.11:g.(?_167402096)_(167405501_?)del
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|
|
NC_000003.11:g.(?_167405002)_(167413530_?)del
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|
|
NC_000003.11:g.(?_167413364)_(167413530_?)del
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|
|
NC_000003.11:g.(?_167413364)_(167437945_?)del
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|
|
NC_000003.11:g.(?_167422610)_(167437965_?)del
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|
|
NC_000003.11:g.(?_167437830)_(167437945_?)del
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|
|
NC_000003.11:g.(?_43121181)_(43122923_?)del
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|
|
NC_000003.11:g.(?_69158226)_(69171557_?)del
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|
NC_000003.11:g.136254742_136427833del
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|
|
NC_000003.12:g.(?_167683298_(167734892_?)del
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|
NC_000003.12:g.(?_167684288)_(167687713_?)del
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|
|
NC_000003.12:g.(?_167684288)_(167697146_?)del
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|
|
NC_000003.12:g.(?_167684288)_(167720177_?)del
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|
|
NC_000004.11:g.(?_3465103)_(3465298_?)del
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|
|
NC_000004.11:g.(?_3494466)_(3495228_?)del
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|
NC_000004.11:g.(?_493125)_(663896_?)del
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|
NC_000004.11:g.(?_493125)_(998181_?)del
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|
NC_000004.11:g.(?_494165)_(494410_?)del
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|
NC_000004.11:g.(?_501174)_(533158_?)del
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|
NC_000004.11:g.(?_502598)_(509994_?)del
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|
|
NC_000004.11:g.(?_509742)_(533158_?)del
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|
NC_000004.11:g.(?_520808)_(1020391_?)del
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|
|
NC_000004.11:g.(?_524205)_(527790_?)del
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|
|
NC_000004.12:g.(?_154740841)_(154749136_?)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.106168703_106217941del
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|
NC_000005.10:g.(?_128328686)_(128330705_?)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.128960376_129175759del
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NC_000006.12:g.35506278_35506281del
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rs2150925640
|
|
NC_000007.13:g.(107626809_107635331)_(107635406_107638801)del
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NC_000007.13:g.(69985843_69991859)_(70221259_70228020)del
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|
|
NC_000007.13:g.(91715729_91718698)_(91864237_91972337)del
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|
NC_000007.13:g.(?_102937907)_(103629803_?)del
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|
NC_000007.13:g.(?_103389853)_(103474139_?)del
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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.(?_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.(?_152617597)_(158500659_?)del
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|
|
NC_000007.13:g.(?_155596114)_(155657138_?)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
|
|
|
NC_000007.13:g.(?_16297995)_(16317871_?)del
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|
|
NC_000007.13:g.(?_16341026)_(16341111_?)del
|
|
|
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_000007.13:g.(?_45039933)_(45039982_?)del
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|
NC_000007.13:g.(?_45039933)_(45115674_?)del
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|
NC_000007.13:g.(?_45067284)_(45115676_?)del
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|
NC_000007.13:g.(?_45077832)_(45115674_?)del
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|
NC_000007.13:g.(?_45103497)_(45109580_?)del
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|
NC_000007.13:g.(?_45109405)_(45109580_?)del
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|
NC_000007.13:g.(?_66094052)_(66104219_?)del
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|
|
NC_000007.13:g.(?_66103220)_(66104219_?)del
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|
|
NC_000007.13:g.(?_91829918)_(91851387_?)del
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|
|
NC_000007.13:g.(?_91830050)_(91830803_?)del
|
|
|
NC_000007.13:g.(?_91830050)_(91844111_?)del
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|
|
NC_000007.13:g.(?_91830050)_(91867093_?)del
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|
|
NC_000007.13:g.(?_91830690)_(91832501_?)del
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|
NC_000007.13:g.(?_91842489)_(91843313_?)del
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|
|
NC_000007.13:g.(?_91842489)_(91871449_?)del
|
|
|
NC_000007.13:g.(?_91851196)_(91871469_?)del
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|
|
NC_000007.13:g.(?_91863743)_(91871469_?)del
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|
|
NC_000007.13:g.(?_91863763)_(91871451_?)del
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|
NC_000007.13:g.(?_91866961)_(91871469_?)del
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|
|
NC_000007.14:g.(45018761_45019059)_(45095530_45095828)del
|
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|
NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del
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|
NC_000007.14:g.(70435782_70698569)_(70766334_70768023)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_000007.14:g.(?_16091675)_(16216217_?)del
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NC_000007.14:g.(?_16216046)_(16376261_?)del
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NC_000007.14:g.(?_16258370)_(16259032_?)del
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|
NC_000007.14:g.(?_16301411)_(16308637_?)del
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NC_000007.14:g.(?_16308513)_(16376251_?)del
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|
NC_000007.14:g.(?_16308523)_(16689906_?)del
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|
NC_000007.14:g.(?_16406061)_(16406337_?)del
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|
NC_000007.14:g.(?_45027705)_(45086112_?)del
|
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|
NC_000007.14:g.(?_45038233)_(45038446_?)del
|
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|
NC_000007.14:g.(?_45038253)_(45076470_?)del
|
|
|
NC_000007.14:g.(?_66629045)_(66640414_?)del
|
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|
NC_000007.14:g.(?_66638233)_(66639252_?)del
|
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NC_000007.14:g.(?_92213175)_(92242155_?)del
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NC_000007.14:g.(?_92225700)_(92226702_?)del
|
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NC_000007.14:g.(?_92234429)_(92234943_?)del
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NC_000021.9:g.46116773dup
|
|
|
NC_000021.9:g.46119791_46119798dup
|
|
|
NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del
|
|
|
NC_000022.10:g.(33756233_33756918)_(33759931_33760459)delins42.9KB
|
|
|
NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup
|
|
|
NC_000022.10:g.(?_18900668)_(19747220_?)del
|
|
|
NC_000022.10:g.(?_18900668)_(19770565_?)del
|
|
|
NC_000022.10:g.(?_18900688)_(21351637_?)del
|
|
|
NC_000022.10:g.(?_18910310)_(19770565_?)del
|
|
|
NC_000022.10:g.(?_19163623)_(19770565_?)del
|
|
|
NC_000022.10:g.(?_19743226)_(19755855_?)del
|
|
|
NC_000022.10:g.(?_19747167)_(19754390_?)del
|
|
|
NC_000022.10:g.(?_19748454)_19748649del
|
|
|
NC_000022.10:g.(?_21797384)_(23630313_?)del
|
|
|
NC_000022.10:g.(?_33559508)_(33673261_?)del
|
|
|
NC_000022.10:g.(?_33700195)_(33712254_?)del
|
|
|
NC_000022.10:g.(?_33712051)_(33733807_?)del
|
|
|
NC_000022.10:g.(?_33733612)_(33828271_?)del
|
|
|
NC_000022.10:g.(?_33733612)_(34157463_?)del
|
|
|
NC_000022.10:g.(?_33777885)_(33828271_?)del
|
|
|
NC_000022.10:g.(?_33828127)_(33961025_?)del
|
|
|
NC_000022.10:g.(?_33828137)_(34157473_?)del
|
|
|
NC_000022.10:g.(?_33960814)_(33961025_?)del
|
|
|
NC_000022.10:g.(?_33960814)_(34157463_?)del
|
|
|
NC_000022.10:g.(?_33960824)_(34022320_?)del
|
|
|
NC_000022.10:g.(?_34000401)_(34046674_?)del
|
|
|
NC_000022.10:g.(?_34000401)_(34157463_?)del
|
|
|
NC_000022.10:g.(?_34022208)_(34022330_?)del
|
|
|
NC_000022.10:g.(?_34022208)_(34157483_?)del
|
|
|
NC_000022.10:g.(?_34022218)_(34157473_?)del
|
|
|
NC_000022.10:g.(?_34157338)_(34157463_?)del
|
|
|
NC_000022.10:g.(?_41074407)_(41489122_?)del
|
|
|
NC_000022.10:g.(?_41553153)_(41554524_?)del
|
|
|
NC_000022.10:g.(?_50885571)_(51021210_?)del
|
|
|
NC_000022.10:g.(?_51017610)_(51021210_?)del
|
|
|
NC_000022.10:g.21514655_22986816del
|
|
|
NC_000022.10:g.21808950_22963000del1154051
|
|
|
NC_000022.11:g.(?_19722428)_(19975757_?)del
|
|
|
NC_000022.11:g.(?_19755901)_(19759687_?)del
|
|
|
NC_000022.11:g.(?_19755901)_(19766877_?)del
|
|
|
NC_000022.11:g.(?_19755901)_(19783042_?)del
|
|
|
NC_000022.11:g.(?_19755950)_(19759697_?)del
|
|
|
NC_000022.11:g.(?_33761351)_(33761496_?)del
|
|
|
NC_000022.11:g.(?_33761361)_(33761486_?)del
|
|
|
NC_000022.11:g.(?_41092585)_(41093099_41117186)del
|
|
|
NC_000022.11:g.(?_41131368)_(41140277_?)del
|
|
|
NC_000022.11:g.(?_41151813)_(41152370_?)del
|
|
|
NC_000022.11:g.(?_41154975)_(41164150_?)del
|
|
|
NC_000022.11:g.(?_50579171)_(50582791_?)del
|
|
|
NC_000022.11:g.18948676_21110520del
|
|
|
NC_000023.10:g.(153784642_153786697)_(153792726_153814360)del
|
|
|
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del
|
|
|
NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del
|
|
|
NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del
|
|
|
NC_000023.10:g.(?_100603501)_(100608996_?)del
|
|
|
NC_000023.10:g.(?_100604853)_(100609705_?)del
|
|
|
NC_000023.10:g.(?_100608162)_(100615763_?)del
|
|
|
NC_000023.10:g.(?_100614261)_(100615763_?)del
|
|
|
NC_000023.10:g.(?_100629415)_(100630272_?)del
|
|
|
NC_000023.10:g.(?_117629935)_(119761021_?)del
|
|
|
NC_000023.10:g.(?_14861689)_(15870650_?)del
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
NC_000023.10:g.(?_152959991)_(152960815_?)del
|
|
|
NC_000023.10:g.(?_153576900)_(153599729_?)del
|
|
|
NC_000023.10:g.(?_153592874)_(153593874_?)del
|
|
|
NC_000023.10:g.(?_153595748)_(153596947_?)del
|
|
|
NC_000023.10:g.(?_153599231)_(153609567_?)del
|
|
|
NC_000023.10:g.(?_28807461)_(33229429_?)dup
|
|
|
NC_000023.10:g.(?_30322696)_(30327480_?)del
|
|
|
NC_000023.11:g.(154556377_154558531)_(154565046_?)del
|
|
|
NC_000023.11:g.(?_101362153)_(101362709_?)dup
|
|
|
NC_000023.11:g.(?_153688555)_(153688856_?)del
|
|
|
NC_000023.11:g.(?_30304579)_(30309363_?)del
|
|
|
NC_000023.11:g.101353342_101353352del
|
|
|
NC_000023.11:g.101353352dup
|
|
|
NC_000023.11:g.101358697del
|
|
|
NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA
|
|
|
NC_012920.1(MT-CYB):m.16002T>C
|
rs1603225633
|
|
NC_012920.1(MT-CYB):m.4296G>A
|
rs1603219393
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NG_007098.2:g.(809539_810185)_(813218_815566)del
|
|
|
NG_007098.2:g.(94856_102832)_(161899_184610)del
|
|
|
NG_008281.1:g.(?_4983)_(8028_10643)del
|
|
|
NG_009814.1:g.(?_4989)_(10173_?)del
|
|
|
NG_009873.1:g.(?_5000)_(160068_?)del
|
|
|
NG_009929.2:g.523149_586240del
|
|
|
NG_016453.2:g.66830_103274del
|
|
|
NG_031890.1:g.(?_60461)_(94053_?)del
|
|
|
NG_032035.1:g.(5265_10701)_(10758_27654)del
|
|
|
NG_032162.2:g.118997_171770del
|
|
|
NG_042181.1:(g.89607_91434)_(105703_107097)del
|
|
|
NM_000048.4(ASL):c.1327del (p.Thr443fs)
|
rs2115767079
|
|
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
|
rs572147914
|
|
NM_000059.4(BRCA2):c.9152del (p.Pro3051fs)
|
rs587779349
|
|
NM_000061.3(BTK):c.1085A>G (p.His362Arg)
|
rs2147429797
|
|
NM_000061.3(BTK):c.1102G>T (p.Gly368Ter)
|
rs2147429777
|
|
NM_000061.3(BTK):c.1103-2A>G
|
rs1603005659
|
|
NM_000061.3(BTK):c.1125T>G (p.Tyr375Ter)
|
rs128621197
|
|
NM_000061.3(BTK):c.1135C>T (p.Gln379Ter)
|
|
|
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter)
|
rs1569292021
|
|
NM_000061.3(BTK):c.1171G>T (p.Gly391Ter)
|
|
|
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter)
|
rs782429199
|
|
NM_000061.3(BTK):c.119A>G (p.Tyr40Cys)
|
rs1555980875
|
|
NM_000061.3(BTK):c.1249A>T (p.Lys417Ter)
|
rs1926503277
|
|
NM_000061.3(BTK):c.1262G>A (p.Trp421Ter)
|
rs1603005139
|
|
NM_000061.3(BTK):c.1278_1291del (p.Val427fs)
|
|
|
NM_000061.3(BTK):c.1321G>T (p.Glu441Ter)
|
rs1603005073
|
|
NM_000061.3(BTK):c.1349+1G>A
|
rs2147428155
|
|
NM_000061.3(BTK):c.1350-1G>A
|
rs1926477495
|
|
NM_000061.3(BTK):c.1379T>A (p.Leu460Ter)
|
rs2147427562
|
|
NM_000061.3(BTK):c.138dup (p.Gly47fs)
|
rs2147448137
|
|
NM_000061.3(BTK):c.1399C>T (p.Gln467Ter)
|
rs2147427505
|
|
NM_000061.3(BTK):c.1420dup (p.Thr474fs)
|
rs2147427470
|
|
NM_000061.3(BTK):c.1505G>A (p.Cys502Tyr)
|
rs1313261352
|
|
NM_000061.3(BTK):c.1517G>A (p.Cys506Tyr)
|
|
|
NM_000061.3(BTK):c.1526T>C (p.Met509Thr)
|
rs1569291644
|
|
NM_000061.3(BTK):c.1535T>C (p.Leu512Pro)
|
rs2147427255
|
|
NM_000061.3(BTK):c.1537del (p.Glu513fs)
|
|
|
NM_000061.3(BTK):c.1546C>T (p.Gln516Ter)
|
rs1603004481
|
|
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)
|
rs128621201
|
|
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln)
|
rs128621202
|
|
NM_000061.3(BTK):c.1567-12_1567-9del
|
rs1569291244
|
|
NM_000061.3(BTK):c.1567-2A>C
|
|
|
NM_000061.3(BTK):c.1567-2A>G
|
rs1555977598
|
|
NM_000061.3(BTK):c.1573C>G (p.Arg525Gly)
|
rs886041149
|
|
NM_000061.3(BTK):c.1573C>T (p.Arg525Ter)
|
rs886041149
|
|
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)
|
rs128620183
|
|
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs)
|
rs1555977592
|
|
NM_000061.3(BTK):c.1606A>T (p.Lys536Ter)
|
|
|
NM_000061.3(BTK):c.1624_1625insGCGCCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCCCCGGGCCCGAGGGCAACGAGCAGACCCCAGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAGTATCTGATTTCGGCC (p.Gly541_Leu542insArgAlaGlyGluArgArgProGlyGlySerGlyTrpArgSerGlyArgAlaProProGlyProArgAlaThrSerArgProGlnProXaaXaaXaaLysLysLysLysLysLysAsnLysValSerAspPheGly)
|
|
|
NM_000061.3(BTK):c.1625T>C (p.Leu542Pro)
|
rs128621203
|
|
NM_000061.3(BTK):c.1630A>G (p.Arg544Gly)
|
|
|
NM_000061.3(BTK):c.1631+2T>C
|
rs1926404536
|
|
NM_000061.3(BTK):c.1641_1651del (p.Asp548fs)
|
rs2147425053
|
|
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp)
|
rs128621204
|
|
NM_000061.3(BTK):c.1688G>A (p.Trp563Ter)
|
rs1555977474
|
|
NM_000061.3(BTK):c.1689G>A (p.Trp563Ter)
|
|
|
NM_000061.3(BTK):c.1694dup (p.Pro566fs)
|
|
|
NM_000061.3(BTK):c.1697C>G (p.Pro566Arg)
|
rs1057521814
|
|
NM_000061.3(BTK):c.1713_1714dup (p.Ser572fs)
|
rs1603002367
|
|
NM_000061.3(BTK):c.1725C>A (p.Ser575Arg)
|
|
|
NM_000061.3(BTK):c.1743G>A (p.Trp581Ter)
|
|
|
NM_000061.3(BTK):c.1750+1G>A
|
|
|
NM_000061.3(BTK):c.1750+1G>T
|
|
|
NM_000061.3(BTK):c.1750+5G>A
|
rs864321659
|
|
NM_000061.3(BTK):c.1751-1G>A
|
|
|
NM_000061.3(BTK):c.1751-1G>C
|
rs1603001846
|
|
NM_000061.3(BTK):c.1751-1G>T
|
|
|
NM_000061.3(BTK):c.1751-2A>G
|
|
|
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter)
|
rs1603001805
|
|
NM_000061.3(BTK):c.1765G>T (p.Glu589Ter)
|
rs1926358858
|
|
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del)
|
rs1603019594
|
|
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)
|
rs128621207
|
|
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)
|
rs1555977339
|
|
NM_000061.3(BTK):c.1780G>C (p.Gly594Arg)
|
|
|
NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)
|
|
|
NM_000061.3(BTK):c.1864del (p.Ala622fs)
|
|
|
NM_000061.3(BTK):c.1881_1882del (p.Thr628fs)
|
|
|
NM_000061.3(BTK):c.1893C>G (p.Tyr631Ter)
|
|
|
NM_000061.3(BTK):c.1921C>T (p.Arg641Cys)
|
|
|
NM_000061.3(BTK):c.1922G>A (p.Arg641His)
|
rs1926220192
|
|
NM_000061.3(BTK):c.1926del (p.Thr643fs)
|
|
|
NM_000061.3(BTK):c.1931T>C (p.Phe644Ser)
|
rs2147419969
|
|
NM_000061.3(BTK):c.215del (p.Asn72fs)
|
rs886041148
|
|
NM_000061.3(BTK):c.215dup (p.Asn72fs)
|
rs886041148
|
|
NM_000061.3(BTK):c.232C>T (p.Gln78Ter)
|
rs1603019535
|
|
NM_000061.3(BTK):c.241-1G>C
|
rs2147444958
|
|
NM_000061.3(BTK):c.270del (p.Glu90fs)
|
rs1603017538
|
|
NM_000061.3(BTK):c.274del (p.Ile92fs)
|
|
|
NM_000061.3(BTK):c.278C>A (p.Ser93Ter)
|
rs1569295678
|
|
NM_000061.3(BTK):c.286G>T (p.Glu96Ter)
|
|
|
NM_000061.3(BTK):c.2T>C (p.Met1Thr)
|
rs128620186
|
|
NM_000061.3(BTK):c.309+1G>A
|
|
|
NM_000061.3(BTK):c.310-1G>C
|
rs864321662
|
|
NM_000061.3(BTK):c.32T>C (p.Leu11Pro)
|
rs1603020228
|
|
NM_000061.3(BTK):c.334T>C (p.Tyr112His)
|
rs1926977049
|
|
NM_000061.3(BTK):c.336C>A (p.Tyr112Ter)
|
rs1409835623
|
|
NM_000061.3(BTK):c.336C>G (p.Tyr112Ter)
|
rs1409835623
|
|
NM_000061.3(BTK):c.349A>C (p.Thr117Pro)
|
rs782820524
|
|
NM_000061.3(BTK):c.355del (p.Glu119fs)
|
|
|
NM_000061.3(BTK):c.371G>A (p.Trp124Ter)
|
rs1555980049
|
|
NM_000061.3(BTK):c.379del (p.Gln127fs)
|
|
|
NM_000061.3(BTK):c.391+1G>A
|
rs2147443380
|
|
NM_000061.3(BTK):c.3G>A (p.Met1Ile)
|
rs1927172387
|
|
NM_000061.3(BTK):c.402C>A (p.Tyr134Ter)
|
|
|
NM_000061.3(BTK):c.43C>T (p.Gln15Ter)
|
rs128620188
|
|
NM_000061.3(BTK):c.43del (p.Gln15fs)
|
|
|
NM_000061.3(BTK):c.441del (p.Phe146_Trp147insTer)
|
rs1926711302
|
|
NM_000061.3(BTK):c.456_457insACTT (p.Leu153fs)
|
|
|
NM_000061.3(BTK):c.465C>A (p.Cys155Ter)
|
rs1926710166
|
|
NM_000061.3(BTK):c.472_475del (p.Thr158fs)
|
rs193922128
|
|
NM_000061.3(BTK):c.496C>T (p.Gln166Ter)
|
rs1926708861
|
|
NM_000061.3(BTK):c.513dup (p.Asn172fs)
|
|
|
NM_000061.3(BTK):c.520+1G>A
|
rs2147435832
|
|
NM_000061.3(BTK):c.521-1G>A
|
rs1926696248
|
|
NM_000061.3(BTK):c.549_550del (p.Lys183fs)
|
|
|
NM_000061.3(BTK):c.557dup (p.Pro187fs)
|
rs864321665
|
|
NM_000061.3(BTK):c.564del (p.Pro190fs)
|
rs1603009890
|
|
NM_000061.3(BTK):c.588+1G>A
|
|
|
NM_000061.3(BTK):c.588+1G>T
|
rs1569293252
|
|
NM_000061.3(BTK):c.595A>T (p.Lys199Ter)
|
rs2147433246
|
|
NM_000061.3(BTK):c.62C>A (p.Ser21Ter)
|
rs2147448284
|
|
NM_000061.3(BTK):c.655del (p.Val219fs)
|
rs1569292810
|
|
NM_000061.3(BTK):c.680del (p.Pro227fs)
|
rs1603008449
|
|
NM_000061.3(BTK):c.721dup (p.Tyr241fs)
|
rs1603008381
|
|
NM_000061.3(BTK):c.754del (p.Trp252fs)
|
|
|
NM_000061.3(BTK):c.755G>A (p.Trp252Ter)
|
rs128621192
|
|
NM_000061.3(BTK):c.756G>A (p.Trp252Ter)
|
rs1603008349
|
|
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)
|
rs128621193
|
|
NM_000061.3(BTK):c.777-1G>A
|
rs1603007942
|
|
NM_000061.3(BTK):c.777-2A>G
|
rs193922129
|
|
NM_000061.3(BTK):c.778C>T (p.Gln260Ter)
|
|
|
NM_000061.3(BTK):c.806del (p.Val269fs)
|
rs1926614700
|
|
NM_000061.3(BTK):c.82C>T (p.Arg28Cys)
|
rs1927168815
|
|
NM_000061.3(BTK):c.83G>A (p.Arg28His)
|
rs128620185
|
|
NM_000061.3(BTK):c.83G>T (p.Arg28Leu)
|
rs128620185
|
|
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)
|
rs128621194
|
|
NM_000061.3(BTK):c.863G>A (p.Arg288Gln)
|
rs1555978277
|
|
NM_000061.3(BTK):c.889C>T (p.Gln297Ter)
|
|
|
NM_000061.3(BTK):c.894+1G>A
|
rs1064793859
|
|
NM_000061.3(BTK):c.895-1G>T
|
rs1926563964
|
|
NM_000061.3(BTK):c.895-2A>G
|
rs193922132
|
|
NM_000061.3(BTK):c.895-2A>T
|
|
|
NM_000061.3(BTK):c.895-37_928del
|
rs1926563302
|
|
NM_000061.3(BTK):c.951_952del (p.Ser318fs)
|
|
|
NM_000061.3(BTK):c.953_956del (p.Ser318fs)
|
|
|
NM_000061.3(BTK):c.957_958del (p.Phe320fs)
|
|
|
NM_000061.3(BTK):c.974+1G>A
|
|
|
NM_000061.3(BTK):c.975-1G>T
|
rs2147429973
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000079.4(CHRNA1):c.1314C>G (p.Cys438Trp)
|
rs137852808
|
|
NM_000079.4(CHRNA1):c.235-353G>A
|
rs2105350984
|
|
NM_000079.4(CHRNA1):c.441del (p.Cys148fs)
|
|
|
NM_000079.4(CHRNA1):c.454G>C (p.Val152Leu)
|
rs137852807
|
|
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)
|
rs137852801
|
|
NM_000079.4(CHRNA1):c.711C>G (p.Asn237Lys)
|
rs137852798
|
|
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val)
|
rs137852805
|
|
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe)
|
rs137852803
|
|
NM_000079.4(CHRNA1):c.821C>T (p.Thr274Ile)
|
rs137852800
|
|
NM_000079.4(CHRNA1):c.826T>C (p.Phe276Leu)
|
rs137852806
|
|
NM_000079.4(CHRNA1):c.866G>T (p.Ser289Ile)
|
rs137852802
|
|
NM_000080.4(CHRNE):c.1002_1008dup (p.Ala337fs)
|
|
|
NM_000080.4(CHRNE):c.1012del (p.Met338fs)
|
rs2151095155
|
|
NM_000080.4(CHRNE):c.1030del (p.His344fs)
|
rs879253723
|
|
NM_000080.4(CHRNE):c.1032+1G>C
|
|
|
NM_000080.4(CHRNE):c.105T>A (p.Tyr35Ter)
|
rs2151098928
|
|
NM_000080.4(CHRNE):c.1062_1081dup (p.Glu361fs)
|
rs2151094729
|
|
NM_000080.4(CHRNE):c.1064del (p.Gly355fs)
|
rs1567636622
|
|
NM_000080.4(CHRNE):c.1070dup (p.Pro358fs)
|
|
|
NM_000080.4(CHRNE):c.1072_1081del (p.Pro358fs)
|
|
|
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs)
|
rs932032926
|
|
NM_000080.4(CHRNE):c.1076_1115del (p.Pro359fs)
|
rs2151094632
|
|
NM_000080.4(CHRNE):c.1077_1098dup (p.Ser367fs)
|
rs1555546315
|
|
NM_000080.4(CHRNE):c.1080_1098dup (p.Ser367fs)
|
rs1969858094
|
|
NM_000080.4(CHRNE):c.1081_1099del (p.Glu361fs)
|
rs1567636493
|
|
NM_000080.4(CHRNE):c.1090del (p.Arg364fs)
|
|
|
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs)
|
rs1156634884
|
|
NM_000080.4(CHRNE):c.1093del (p.Ala365fs)
|
rs886043239
|
|
NM_000080.4(CHRNE):c.1096_1105dup (p.Pro369fs)
|
rs1255916068
|
|
NM_000080.4(CHRNE):c.1108del (p.Arg370fs)
|
rs1969856640
|
|
NM_000080.4(CHRNE):c.1113_1174del (p.Ser373fs)
|
|
|
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)
|
|
|
NM_000080.4(CHRNE):c.1121C>A (p.Ser374Ter)
|
rs768869197
|
|
NM_000080.4(CHRNE):c.114_118dup (p.Arg40fs)
|
rs2151098905
|
|
NM_000080.4(CHRNE):c.1158dup (p.Lys387fs)
|
rs2151094540
|
|
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)
|
rs977512223
|
|
NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter)
|
rs886037628
|
|
NM_000080.4(CHRNE):c.1181_1187dup (p.Glu396delinsAspValTer)
|
rs1423995073
|
|
NM_000080.4(CHRNE):c.1192C>T (p.Gln398Ter)
|
|
|
NM_000080.4(CHRNE):c.11_14dup (p.Leu6fs)
|
|
|
NM_000080.4(CHRNE):c.1203del (p.Gln402fs)
|
rs1429181185
|
|
NM_000080.4(CHRNE):c.1204C>T (p.Gln402Ter)
|
|
|
NM_000080.4(CHRNE):c.1214G>A (p.Trp405Ter)
|
rs2151094398
|
|
NM_000080.4(CHRNE):c.1216_1219+19del
|
rs760623071
|
|
NM_000080.4(CHRNE):c.1219+1G>C
|
|
|
NM_000080.4(CHRNE):c.1219+2T>G
|
rs2151094378
|
|
NM_000080.4(CHRNE):c.1220-2A>G
|
rs1309292778
|
|
NM_000080.4(CHRNE):c.1220-8_1227dup
|
rs2151094080
|
|
NM_000080.4(CHRNE):c.1231C>T (p.Gln411Ter)
|
rs1969839736
|
|
NM_000080.4(CHRNE):c.1238dup (p.Ala415fs)
|
|
|
NM_000080.4(CHRNE):c.1248_1266dup (p.Cys423fs)
|
|
|
NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs)
|
rs781774131
|
|
NM_000080.4(CHRNE):c.1251_1266dup (p.Cys423fs)
|
rs748694848
|
|
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs)
|
rs1597613479
|
|
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)
|
rs769945146
|
|
NM_000080.4(CHRNE):c.1255G>T (p.Glu419Ter)
|
rs754975887
|
|
NM_000080.4(CHRNE):c.1258del (p.Val420fs)
|
|
|
NM_000080.4(CHRNE):c.1271_1290del (p.Val424fs)
|
rs2151093952
|
|
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro)
|
rs121909517
|
|
NM_000080.4(CHRNE):c.1306_1307del (p.Asp436fs)
|
rs1194524772
|
|
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)
|
rs762368691
|
|
NM_000080.4(CHRNE):c.1319_1326+15del
|
rs1208462125
|
|
NM_000080.4(CHRNE):c.1323dup (p.Glu442fs)
|
rs1597613302
|
|
NM_000080.4(CHRNE):c.1326+1G>A
|
rs1430654625
|
|
NM_000080.4(CHRNE):c.1326+2T>C
|
rs1597613279
|
|
NM_000080.4(CHRNE):c.1327del
|
rs763258280
|
|
NM_000080.4(CHRNE):c.1332del (p.Ser445fs)
|
|
|
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter)
|
rs918839874
|
|
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)
|
rs773526895
|
|
NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del)
|
rs748289906
|
|
NM_000080.4(CHRNE):c.1371del (p.Cys458fs)
|
rs1597612665
|
|
NM_000080.4(CHRNE):c.1379G>A (p.Trp460Ter)
|
|
|
NM_000080.4(CHRNE):c.1380G>A (p.Trp460Ter)
|
rs1555546096
|
|
NM_000080.4(CHRNE):c.1381_1390del (p.Ala461fs)
|
|
|
NM_000080.4(CHRNE):c.1383_1393del (p.Ala462fs)
|
|
|
NM_000080.4(CHRNE):c.1429del (p.Ala477fs)
|
rs1396286715
|
|
NM_000080.4(CHRNE):c.223T>C (p.Trp75Arg)
|
rs193919341
|
|
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
|
|
|
NM_000080.4(CHRNE):c.240G>A (p.Trp80Ter)
|
|
|
NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter)
|
rs121909513
|
|
NM_000080.4(CHRNE):c.250del (p.Arg84fs)
|
rs1555547003
|
|
NM_000080.4(CHRNE):c.264del (p.Ser88fs)
|
|
|
NM_000080.4(CHRNE):c.293dup (p.Arg99fs)
|
|
|
NM_000080.4(CHRNE):c.295C>T (p.Arg99Ter)
|
rs1278514080
|
|
NM_000080.4(CHRNE):c.313_319del (p.Val105fs)
|
|
|
NM_000080.4(CHRNE):c.316_317del (p.Trp106fs)
|
rs2151098538
|
|
NM_000080.4(CHRNE):c.318G>A (p.Trp106Ter)
|
|
|
NM_000080.4(CHRNE):c.327_328dup (p.Ile110fs)
|
|
|
NM_000080.4(CHRNE):c.344+1G>A
|
rs879253722
|
|
NM_000080.4(CHRNE):c.355C>T (p.Gln119Ter)
|
|
|
NM_000080.4(CHRNE):c.361G>T (p.Gly121Ter)
|
rs1187421976
|
|
NM_000080.4(CHRNE):c.372C>G (p.Tyr124Ter)
|
rs894382905
|
|
NM_000080.4(CHRNE):c.393C>G (p.Tyr131Ter)
|
|
|
NM_000080.4(CHRNE):c.400_403dup (p.Ser135fs)
|
|
|
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)
|
rs483353045
|
|
NM_000080.4(CHRNE):c.439_440insGAGGTCA (p.Val147fs)
|
rs2151098295
|
|
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser)
|
rs1597621396
|
|
NM_000080.4(CHRNE):c.445_458delinsA (p.Ala149fs)
|
rs1597621353
|
|
NM_000080.4(CHRNE):c.447_459del (p.Val150fs)
|
rs1970005446
|
|
NM_000080.4(CHRNE):c.453_454dup (p.Val152fs)
|
|
|
NM_000080.4(CHRNE):c.46+2del
|
|
|
NM_000080.4(CHRNE):c.477G>A (p.Trp159Ter)
|
|
|
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.501-16G>A
|
rs879255563
|
|
NM_000080.4(CHRNE):c.505C>T (p.Gln169Ter)
|
|
|
NM_000080.4(CHRNE):c.520G>T (p.Glu174Ter)
|
|
|
NM_000080.4(CHRNE):c.551dup (p.Asn184fs)
|
|
|
NM_000080.4(CHRNE):c.569dup (p.Asn190fs)
|
|
|
NM_000080.4(CHRNE):c.583G>A (p.Asp195Asn)
|
|
|
NM_000080.4(CHRNE):c.589G>T (p.Glu197Ter)
|
|
|
NM_000080.4(CHRNE):c.590_591del (p.Glu197fs)
|
rs2151097742
|
|
NM_000080.4(CHRNE):c.606_619del (p.Gly203fs)
|
rs1969973509
|
|
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)
|
rs753828284
|
|
NM_000080.4(CHRNE):c.617_635del (p.Ala206fs)
|
rs1969972830
|
|
NM_000080.4(CHRNE):c.647_653dup (p.His218fs)
|
rs2151097420
|
|
NM_000080.4(CHRNE):c.653_666dup (p.Asp223fs)
|
|
|
NM_000080.4(CHRNE):c.67G>T (p.Glu23Ter)
|
|
|
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs)
|
rs1597619440
|
|
NM_000080.4(CHRNE):c.687del (p.Asp229fs)
|
|
|
NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp)
|
rs1567638676
|
|
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)
|
rs28999110
|
|
NM_000080.4(CHRNE):c.750_751del (p.Val252fs)
|
|
|
NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu)
|
rs1555546765
|
|
NM_000080.4(CHRNE):c.790del (p.Leu264fs)
|
|
|
NM_000080.4(CHRNE):c.793C>T (p.Pro265Ser)
|
rs2151097209
|
|
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)
|
rs759226183
|
|
NM_000080.4(CHRNE):c.794del (p.Pro265fs)
|
rs756675414
|
|
NM_000080.4(CHRNE):c.802+1G>A
|
|
|
NM_000080.4(CHRNE):c.802+2T>A
|
|
|
NM_000080.4(CHRNE):c.802+2T>C
|
rs2151097188
|
|
NM_000080.4(CHRNE):c.811C>T (p.Gln271Ter)
|
|
|
NM_000080.4(CHRNE):c.829dup (p.Ile277fs)
|
rs2151097082
|
|
NM_000080.4(CHRNE):c.835G>T (p.Val279Phe)
|
rs1597618854
|
|
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter)
|
rs773929089
|
|
NM_000080.4(CHRNE):c.848_852dup (p.Val285fs)
|
rs1567638401
|
|
NM_000080.4(CHRNE):c.850A>C (p.Thr284Pro)
|
rs121909510
|
|
NM_000080.4(CHRNE):c.852del (p.Val285fs)
|
|
|
NM_000080.4(CHRNE):c.854T>C (p.Val285Ala)
|
rs1597618787
|
|
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe)
|
rs121909511
|
|
NM_000080.4(CHRNE):c.866del (p.Leu289fs)
|
|
|
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
|
|
|
NM_000080.4(CHRNE):c.876del (p.Ile294fs)
|
|
|
NM_000080.4(CHRNE):c.878_887dup (p.Thr297fs)
|
|
|
NM_000080.4(CHRNE):c.892_894del (p.Ser298del)
|
rs398122830
|
|
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)
|
rs2151096983
|
|
NM_000080.4(CHRNE):c.918-1G>A
|
rs1407243713
|
|
NM_000080.4(CHRNE):c.934_936del (p.Met312del)
|
rs1555546465
|
|
NM_000080.4(CHRNE):c.951_954del (p.Ile318fs)
|
|
|
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter)
|
rs56377005
|
|
NM_000080.4(CHRNE):c.985_986del (p.Ser329fs)
|
rs1969880683
|
|
NM_000080.4(CHRNE):c.988C>T (p.Gln330Ter)
|
|
|
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)
|
rs121909515
|
|
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)
|
rs760022829
|
|
NM_000081.4(LYST):c.10027C>T (p.Gln3343Ter)
|
|
|
NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)
|
|
|
NM_000081.4(LYST):c.10083del (p.Phe3362fs)
|
|
|
NM_000081.4(LYST):c.10153G>T (p.Gly3385Ter)
|
|
|
NM_000081.4(LYST):c.10206del (p.Thr3402_Met3403insTer)
|
|
|
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter)
|
rs754616030
|
|
NM_000081.4(LYST):c.10360G>T (p.Glu3454Ter)
|
|
|
NM_000081.4(LYST):c.10468G>T (p.Gly3490Ter)
|
|
|
NM_000081.4(LYST):c.10568_10569del (p.Val3523fs)
|
|
|
NM_000081.4(LYST):c.10601C>A (p.Ser3534Ter)
|
|
|
NM_000081.4(LYST):c.10654del (p.Gln3552fs)
|
|
|
NM_000081.4(LYST):c.106G>T (p.Glu36Ter)
|
|
|
NM_000081.4(LYST):c.1082_1083insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTCTAGAGCAGCTTT (p.Leu361delinsPhePhePhePhePhePhePheXaaXaaXaaXaaValPheCysValAlaHisAlaGlySerCysArgProGluLeuPheLeuPheGlyHisLeuGlySerSerLeuTer)
|
|
|
NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)
|
|
|
NM_000081.4(LYST):c.1189A>T (p.Arg397Ter)
|
|
|
NM_000081.4(LYST):c.1202T>G (p.Leu401Ter)
|
|
|
NM_000081.4(LYST):c.130C>T (p.Gln44Ter)
|
|
|
NM_000081.4(LYST):c.1361G>A (p.Trp454Ter)
|
|
|
NM_000081.4(LYST):c.1391del (p.Glu464fs)
|
|
|
NM_000081.4(LYST):c.1406T>A (p.Leu469Ter)
|
|
|
NM_000081.4(LYST):c.1467del (p.Glu489fs)
|
rs80338644
|
|
NM_000081.4(LYST):c.1492A>T (p.Arg498Ter)
|
|
|
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter)
|
rs80338645
|
|
NM_000081.4(LYST):c.1592dup (p.Asn531fs)
|
|
|
NM_000081.4(LYST):c.1599dup (p.Glu534Ter)
|
|
|
NM_000081.4(LYST):c.1758_1761dup (p.Pro588fs)
|
|
|
NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)
|
|
|
NM_000081.4(LYST):c.1902dup (p.Ala635fs)
|
rs80338646
|
|
NM_000081.4(LYST):c.192+1G>A
|
|
|
NM_000081.4(LYST):c.192+2T>C
|
|
|
NM_000081.4(LYST):c.2015dup (p.Tyr672Ter)
|
|
|
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
|
|
|
NM_000081.4(LYST):c.2063G>A (p.Trp688Ter)
|
|
|
NM_000081.4(LYST):c.2158C>T (p.Gln720Ter)
|
|
|
NM_000081.4(LYST):c.236_237del (p.Leu79fs)
|
|
|
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
|
|
|
NM_000081.4(LYST):c.2413del (p.Glu805fs)
|
rs80338647
|
|
NM_000081.4(LYST):c.2437C>T (p.Arg813Ter)
|
|
|
NM_000081.4(LYST):c.244dup (p.Leu82fs)
|
|
|
NM_000081.4(LYST):c.2540del (p.Lys847fs)
|
|
|
NM_000081.4(LYST):c.2730_2734del (p.Ser910fs)
|
|
|
NM_000081.4(LYST):c.2832del (p.Ser945fs)
|
|
|
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
|
|
|
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter)
|
rs80338651
|
|
NM_000081.4(LYST):c.3301_3302insCAGGATTTAAACAGAATTTCTCAACCTAAGAGAACTATGAAGGAAGATTTATTATCTTTGGCTATAA (p.Gln1101delinsProGlyPheLysGlnAsnPheSerThrTer)
|
|
|
NM_000081.4(LYST):c.3433del (p.His1145fs)
|
|
|
NM_000081.4(LYST):c.3574G>T (p.Glu1192Ter)
|
|
|
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
|
|
|
NM_000081.4(LYST):c.3736_3737del (p.Glu1246fs)
|
|
|
NM_000081.4(LYST):c.3770T>A (p.Leu1257Ter)
|
|
|
NM_000081.4(LYST):c.3817_3821dup (p.Glu1275fs)
|
|
|
NM_000081.4(LYST):c.3910del (p.Glu1304fs)
|
|
|
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
|
|
|
NM_000081.4(LYST):c.4264del (p.Ala1422fs)
|
|
|
NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter)
|
rs1468055437
|
|
NM_000081.4(LYST):c.4322_4325del (p.Glu1441fs)
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|
|
NM_000081.4(LYST):c.433C>T (p.Arg145Ter)
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|
|
NM_000081.4(LYST):c.4434G>A (p.Trp1478Ter)
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|
|
NM_000081.4(LYST):c.4469del (p.Thr1490fs)
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|
|
NM_000081.4(LYST):c.4479del (p.Gly1494fs)
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|
|
NM_000081.4(LYST):c.4498_4502del (p.Arg1500fs)
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|
|
NM_000081.4(LYST):c.4900A>T (p.Lys1634Ter)
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|
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NM_000081.4(LYST):c.4978C>T (p.Gln1660Ter)
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|
|
NM_000081.4(LYST):c.5351_5352insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGAGCATCTT (p.Leu1784delinsPhePhePhePhePhePhePheXaaXaaXaaXaaSerTer)
|
|
|
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
|
|
|
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
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|
|
NM_000081.4(LYST):c.5519C>G (p.Ser1840Ter)
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|
|
NM_000081.4(LYST):c.575del (p.Phe191_Leu192insTer)
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|
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NM_000081.4(LYST):c.575dup (p.Leu192fs)
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|
|
NM_000081.4(LYST):c.5785C>T (p.Gln1929Ter)
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|
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NM_000081.4(LYST):c.5881C>T (p.Gln1961Ter)
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|
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NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
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|
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NM_000081.4(LYST):c.6077dup (p.Tyr2026Ter)
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|
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NM_000081.4(LYST):c.6078C>G (p.Tyr2026Ter)
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|
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NM_000081.4(LYST):c.6187del (p.Arg2063fs)
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|
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NM_000081.4(LYST):c.6283C>T (p.Gln2095Ter)
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|
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NM_000081.4(LYST):c.6397C>T (p.Gln2133Ter)
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NM_000081.4(LYST):c.6676C>T (p.Arg2226Ter)
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|
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NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)
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|
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NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
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|
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NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
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|
|
NM_000081.4(LYST):c.713_714insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGGCGCGGACGGGGAGCCGGGCCCGGAGCCGCCGTCACGGCCGCGACCGCCCCGCGGGGCCGGCCTGGGCCGCGCTCAAACACTGACATTTT (p.Ile237_Leu238insPhePhePhePhePhePhePheXaaXaaXaaXaaGlyArgGlyArgGlyAlaGlyProGlyAlaAlaValThrAlaAlaThrAlaProArgGlyArgProGlyProArgSerAsnThrAspIle)
|
|
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NM_000081.4(LYST):c.7168C>T (p.Gln2390Ter)
|
|
|
NM_000081.4(LYST):c.7499del (p.Ile2500fs)
|
|
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NM_000081.4(LYST):c.7645C>T (p.Gln2549Ter)
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|
|
NM_000081.4(LYST):c.7786C>T (p.Arg2596Ter)
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|
|
NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter)
|
|
|
NM_000081.4(LYST):c.8122dup (p.Tyr2708fs)
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|
|
NM_000081.4(LYST):c.8358+2T>C
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|
|
NM_000081.4(LYST):c.8373_8376del (p.Leu2791fs)
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|
|
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
|
|
|
NM_000081.4(LYST):c.8536-1G>A
|
|
|
NM_000081.4(LYST):c.8668_8669dup (p.Thr2891fs)
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|
|
NM_000081.4(LYST):c.8691_8692del (p.Gln2898fs)
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|
|
NM_000081.4(LYST):c.8760del (p.Ser2920fs)
|
|
|
NM_000081.4(LYST):c.8802-2A>G
|
|
|
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
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|
|
NM_000081.4(LYST):c.9143del (p.Ser3048fs)
|
|
|
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
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|
|
NM_000081.4(LYST):c.9239G>A (p.Trp3080Ter)
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|
|
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
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|
|
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
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|
|
NM_000081.4(LYST):c.934del (p.Ser312fs)
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|
|
NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)
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|
|
NM_000081.4(LYST):c.9434_9435dup (p.Leu3146fs)
|
|
|
NM_000081.4(LYST):c.9449del (p.Asn3150fs)
|
|
|
NM_000081.4(LYST):c.9463C>T (p.Arg3155Ter)
|
|
|
NM_000081.4(LYST):c.9600del (p.Glu3201fs)
|
|
|
NM_000081.4(LYST):c.9612T>G (p.Tyr3204Ter)
|
|
|
NM_000081.4(LYST):c.973dup (p.Arg325fs)
|
|
|
NM_000081.4(LYST):c.9838C>T (p.Arg3280Ter)
|
|
|
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
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|
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NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
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|
|
NM_000081.4(LYST):c.9893del (p.Phe3298fs)
|
rs80338668
|
|
NM_000081.4(LYST):c.9961dup (p.Val3321fs)
|
|
|
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
|
|
|
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)
|
rs61749670
|
|
NM_000180.4(GUCY2D):c.-2_3del (p.Met1fs)
|
rs1451359371
|
|
NM_000180.4(GUCY2D):c.1008_1014del (p.Asp337fs)
|
|
|
NM_000180.4(GUCY2D):c.1089_1113del (p.Glu363fs)
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|
|
NM_000180.4(GUCY2D):c.1116G>A (p.Trp372Ter)
|
|
|
NM_000180.4(GUCY2D):c.1116_1119dup (p.Ser374fs)
|
|
|
NM_000180.4(GUCY2D):c.1149_1155del (p.Asp384fs)
|
|
|
NM_000180.4(GUCY2D):c.1150del (p.Asp384fs)
|
|
|
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs)
|
rs1598146173
|
|
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)
|
rs61749679
|
|
NM_000180.4(GUCY2D):c.1361_1367del (p.Asn454fs)
|
rs2151800620
|
|
NM_000180.4(GUCY2D):c.1371C>A (p.Cys457Ter)
|
|
|
NM_000180.4(GUCY2D):c.1377_1378del (p.Gly460fs)
|
|
|
NM_000180.4(GUCY2D):c.1378+1G>A
|
rs1975751307
|
|
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs)
|
rs1598146589
|
|
NM_000180.4(GUCY2D):c.144dup (p.Ala49fs)
|
|
|
NM_000180.4(GUCY2D):c.1530del (p.Thr511fs)
|
rs1975768901
|
|
NM_000180.4(GUCY2D):c.1566+2T>C
|
rs61749683
|
|
NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter)
|
rs1168076308
|
|
NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter)
|
rs1349155167
|
|
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)
|
rs61749755
|
|
NM_000180.4(GUCY2D):c.16_19del (p.Arg6fs)
|
|
|
NM_000180.4(GUCY2D):c.1753C>T (p.Gln585Ter)
|
|
|
NM_000180.4(GUCY2D):c.175del (p.Leu59fs)
|
rs2151799287
|
|
NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs)
|
rs1975665345
|
|
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs)
|
rs794727952
|
|
NM_000180.4(GUCY2D):c.1780_1783del (p.Leu594fs)
|
|
|
NM_000180.4(GUCY2D):c.1784_1787del (p.Tyr595fs)
|
|
|
NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs)
|
rs63749078
|
|
NM_000180.4(GUCY2D):c.1821_1824dup (p.Ala609fs)
|
|
|
NM_000180.4(GUCY2D):c.185G>A (p.Trp62Ter)
|
|
|
NM_000180.4(GUCY2D):c.186G>A (p.Trp62Ter)
|
|
|
NM_000180.4(GUCY2D):c.1956+2T>A
|
rs61749758
|
|
NM_000180.4(GUCY2D):c.1957-1G>T
|
rs61749759
|
|
NM_000180.4(GUCY2D):c.1957-2A>G
|
rs945734402
|
|
NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln)
|
rs1598149187
|
|
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val)
|
rs1424348888
|
|
NM_000180.4(GUCY2D):c.2080C>T (p.Gln694Ter)
|
|
|
NM_000180.4(GUCY2D):c.2113+1G>A
|
|
|
NM_000180.4(GUCY2D):c.2114-27_2263+18del
|
rs1555635550
|
|
NM_000180.4(GUCY2D):c.2177_2206del (p.Ala726_Met736delinsVal)
|
rs1975890613
|
|
NM_000180.4(GUCY2D):c.2209C>T (p.Gln737Ter)
|
rs2151802829
|
|
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter)
|
rs747951577
|
|
NM_000180.4(GUCY2D):c.2263+2T>C
|
rs1975893449
|
|
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs)
|
rs281865410
|
|
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
|
|
|
NM_000180.4(GUCY2D):c.2291dup (p.Pro765fs)
|
|
|
NM_000180.4(GUCY2D):c.2323C>T (p.Gln775Ter)
|
|
|
NM_000180.4(GUCY2D):c.2377del (p.Glu793fs)
|
rs1555635668
|
|
NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs)
|
rs1975911430
|
|
NM_000180.4(GUCY2D):c.2413-1G>C
|
rs1975923246
|
|
NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter)
|
rs1338490917
|
|
NM_000180.4(GUCY2D):c.247C>T (p.Arg83Cys)
|
|
|
NM_000180.4(GUCY2D):c.2509del (p.Glu837fs)
|
|
|
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser)
|
rs61750172
|
|
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly)
|
rs61750172
|
|
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)
|
rs61750173
|
|
NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro)
|
rs61750173
|
|
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs)
|
rs756044745
|
|
NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter)
|
rs1341592819
|
|
NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn)
|
rs1598150539
|
|
NM_000180.4(GUCY2D):c.2577-2A>C
|
rs1975931968
|
|
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg)
|
rs1567961680
|
|
NM_000180.4(GUCY2D):c.2632C>T (p.Gln878Ter)
|
|
|
NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter)
|
rs1567961697
|
|
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs)
|
rs1598150748
|
|
NM_000180.4(GUCY2D):c.2678_2679del (p.Ser893fs)
|
|
|
NM_000180.4(GUCY2D):c.2730dup (p.Leu911fs)
|
|
|
NM_000180.4(GUCY2D):c.2731C>T (p.Leu911Phe)
|
|
|
NM_000180.4(GUCY2D):c.2735_2736del (p.Leu911_Phe912insTer)
|
|
|
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)
|
rs1006935198
|
|
NM_000180.4(GUCY2D):c.2770-1G>C
|
rs1975943461
|
|
NM_000180.4(GUCY2D):c.2770-2A>G
|
rs1975943416
|
|
NM_000180.4(GUCY2D):c.2871del (p.Ser958fs)
|
rs2151803659
|
|
NM_000180.4(GUCY2D):c.2899del (p.His967fs)
|
rs61750183
|
|
NM_000180.4(GUCY2D):c.2944+1del
|
rs61750185
|
|
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)
|
|
|
NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter)
|
rs1975957350
|
|
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs)
|
rs1975957618
|
|
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys)
|
rs281865408
|
|
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg)
|
rs868612148
|
|
NM_000180.4(GUCY2D):c.3038G>A (p.Gly1013Glu)
|
rs1975959442
|
|
NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter)
|
rs866511152
|
|
NM_000180.4(GUCY2D):c.3074_3075del (p.Val1025fs)
|
|
|
NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs)
|
rs281865411
|
|
NM_000180.4(GUCY2D):c.308A>T (p.Glu103Val)
|
|
|
NM_000180.4(GUCY2D):c.3105C>G (p.Tyr1035Ter)
|
rs1975964112
|
|
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter)
|
rs61750194
|
|
NM_000180.4(GUCY2D):c.3118_3125delinsAAGGTGAGGTAC (p.Arg1040fs)
|
|
|
NM_000180.4(GUCY2D):c.315C>A (p.Cys105Ter)
|
rs2151799357
|
|
NM_000180.4(GUCY2D):c.3219dup (p.Pro1074fs)
|
rs1374426388
|
|
NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs)
|
rs386834239
|
|
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile)
|
rs281865409
|
|
NM_000180.4(GUCY2D):c.442del (p.Val148fs)
|
|
|
NM_000180.4(GUCY2D):c.450G>A (p.Trp150Ter)
|
|
|
NM_000180.4(GUCY2D):c.484dup (p.Ala162fs)
|
rs2151799452
|
|
NM_000180.4(GUCY2D):c.501del (p.Ala168fs)
|
rs1975675766
|
|
NM_000180.4(GUCY2D):c.51C>A (p.Cys17Ter)
|
|
|
NM_000180.4(GUCY2D):c.562_565dup (p.Ala189fs)
|
rs1975678842
|
|
NM_000180.4(GUCY2D):c.564del (p.Ala189fs)
|
rs2151799492
|
|
NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter)
|
rs768390959
|
|
NM_000180.4(GUCY2D):c.622del (p.Arg208fs)
|
rs61749671
|
|
NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs)
|
rs2151799567
|
|
NM_000180.4(GUCY2D):c.781_782insT (p.Glu261fs)
|
|
|
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter)
|
rs143745703
|
|
NM_000180.4(GUCY2D):c.860del (p.Pro287fs)
|
|
|
NM_000180.4(GUCY2D):c.914del (p.His305fs)
|
rs1598144694
|
|
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs)
|
rs61749663
|
|
NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs)
|
rs1975693728
|
|
NM_000180.4(GUCY2D):c.941dup (p.His314fs)
|
|
|
NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter)
|
rs755999834
|
|
NM_000180.4(GUCY2D):c.[1978C>T];[2960G>C]
|
|
|
NM_000193.4(SHH):c.100_101del (p.Arg34fs)
|
rs1584806077
|
|
NM_000193.4(SHH):c.1040C>T (p.Pro347Leu)
|
rs886042458
|
|
NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del)
|
rs397515376
|
|
NM_000193.4(SHH):c.1172del (p.Ala391fs)
|
rs1803239521
|
|
NM_000193.4(SHH):c.1212_1226del (p.Asp405_Gly409del)
|
rs587778786
|
|
NM_000193.4(SHH):c.1270C>G (p.Pro424Ala)
|
rs104894048
|
|
NM_000193.4(SHH):c.1284del (p.Thr429fs)
|
rs1057518660
|
|
NM_000193.4(SHH):c.1307C>A (p.Ser436Ter)
|
rs1554493607
|
|
NM_000193.4(SHH):c.214C>T (p.Arg72Ter)
|
rs779093031
|
|
NM_000193.4(SHH):c.263A>T (p.Asp88Val)
|
rs104894050
|
|
NM_000193.4(SHH):c.298C>T (p.Gln100Ter)
|
rs104894044
|
|
NM_000193.4(SHH):c.300G>C (p.Gln100His)
|
rs587778792
|
|
NM_000193.4(SHH):c.313A>T (p.Lys105Ter)
|
rs104894045
|
|
NM_000193.4(SHH):c.331A>T (p.Ile111Phe)
|
rs104894049
|
|
NM_000193.4(SHH):c.345C>A (p.Asn115Lys)
|
rs267607047
|
|
NM_000193.4(SHH):c.349T>C (p.Trp117Arg)
|
rs104894040
|
|
NM_000193.4(SHH):c.349T>G (p.Trp117Gly)
|
rs104894040
|
|
NM_000193.4(SHH):c.383G>A (p.Trp128Ter)
|
rs104894053
|
|
NM_000193.4(SHH):c.38_45del (p.Val13fs)
|
rs587778789
|
|
NM_000193.4(SHH):c.415_416del (p.Leu139fs)
|
rs1584800607
|
|
NM_000193.4(SHH):c.419_423dup (p.Glu142fs)
|
rs1584800601
|
|
NM_000193.4(SHH):c.44C>A (p.Ser15Ter)
|
|
|
NM_000193.4(SHH):c.474C>G (p.Tyr158Ter)
|
rs146990376
|
|
NM_000193.4(SHH):c.562+1G>A
|
|
|
NM_000193.4(SHH):c.562G>C (p.Glu188Gln)
|
rs587778799
|
|
NM_000193.4(SHH):c.593G>A (p.Cys198Tyr)
|
rs1803267843
|
|
NM_000193.4(SHH):c.625C>T (p.Gln209Ter)
|
rs587778803
|
|
NM_000193.4(SHH):c.671T>A (p.Val224Glu)
|
rs104894042
|
|
NM_000193.4(SHH):c.6_9dup (p.Leu4fs)
|
rs587778788
|
|
NM_000193.4(SHH):c.705del (p.Leu234_Tyr235insTer)
|
|
|
NM_000193.4(SHH):c.766G>T (p.Glu256Ter)
|
rs104894051
|
|
NM_000193.4(SHH):c.788_808del (p.Arg263_Ala269del)
|
rs397515375
|
|
NM_000193.4(SHH):c.850G>T (p.Glu284Ter)
|
rs104894046
|
|
NM_000193.4(SHH):c.851_873del (p.Glu284fs)
|
rs1554493810
|
|
NM_000193.4(SHH):c.91G>A (p.Gly31Arg)
|
rs28936675
|
|
NM_000193.4(SHH):c.995T>C (p.Val332Ala)
|
rs104894052
|
|
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)
|
rs752914124
|
|
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.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.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.5533C>T (p.Arg1845Trp)
|
rs28933098
|
|
NM_000257.4(MYH7):c.5655+5G>A
|
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_000264.5(PTCH1):c.1216-1G>A
|
rs1564051834
|
|
NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter)
|
rs766313615
|
|
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs)
|
rs864622212
|
|
NM_000264.5(PTCH1):c.2723T>G (p.Val908Gly)
|
rs199476093
|
|
NM_000266.4(NDP):c.103del (p.Asp35fs)
|
rs2147209204
|
|
NM_000266.4(NDP):c.109C>T (p.Arg37Ter)
|
rs398123283
|
|
NM_000266.4(NDP):c.131A>G (p.Tyr44Cys)
|
rs104894870
|
|
NM_000266.4(NDP):c.134T>A (p.Val45Glu)
|
rs137852221
|
|
NM_000266.4(NDP):c.179T>A (p.Val60Glu)
|
rs104894869
|
|
NM_000266.4(NDP):c.181C>T (p.Leu61Phe)
|
rs104894880
|
|
NM_000266.4(NDP):c.1A>G (p.Met1Val)
|
rs28933685
|
|
NM_000266.4(NDP):c.206G>C (p.Cys69Ser)
|
rs104894872
|
|
NM_000266.4(NDP):c.218C>A (p.Ser73Ter)
|
rs104894882
|
|
NM_000266.4(NDP):c.220C>T (p.Arg74Cys)
|
rs727504031
|
|
NM_000266.4(NDP):c.223_224dup (p.Glu76fs)
|
|
|
NM_000266.4(NDP):c.224C>G (p.Ser75Cys)
|
rs104894868
|
|
NM_000266.4(NDP):c.269G>C (p.Arg90Pro)
|
rs104894867
|
|
NM_000266.4(NDP):c.287G>A (p.Cys96Tyr)
|
rs104894871
|
|
NM_000266.4(NDP):c.288C>G (p.Cys96Trp)
|
rs104894877
|
|
NM_000266.4(NDP):c.302C>T (p.Ser101Phe)
|
rs104894883
|
|
NM_000266.4(NDP):c.313G>A (p.Ala105Thr)
|
rs104894875
|
|
NM_000266.4(NDP):c.384C>A (p.Cys128Ter)
|
rs104894873
|
|
NM_000266.4(NDP):c.38T>G (p.Leu13Arg)
|
rs104894879
|
|
NM_000266.4(NDP):c.58G>T (p.Gly20Ter)
|
rs200594881
|
|
NM_000273.3(GPR143):c.162_198del (p.Ala55fs)
|
|
|
NM_000273.3(GPR143):c.231_249dup (p.Gly84fs)
|
|
|
NM_000273.3(GPR143):c.266C>T (p.Ser89Phe)
|
rs137852298
|
|
NM_000273.3(GPR143):c.731del (p.Ile244fs)
|
rs1569118851
|
|
NM_000283.4(PDE6B):c.2193+1G>A
|
rs727504075
|
|
NM_000283.4(PDE6B):c.772C>A (p.His258Asn)
|
rs121918582
|
|
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)
|
rs1064797304
|
|
NM_000306.4(POU1F1):c.143-64T>G
|
rs1064796954
|
|
NM_000306.4(POU1F1):c.143-66T>G
|
rs2106940833
|
|
NM_000306.4(POU1F1):c.143-68T>A
|
rs2106940845
|
|
NM_000306.4(POU1F1):c.143-69T>G
|
rs2106940848
|
|
NM_000306.4(POU1F1):c.143-71T>G
|
rs2106940851
|
|
NM_000306.4(POU1F1):c.143-73T>G
|
rs2106940853
|
|
NM_000306.4(POU1F1):c.404T>G (p.Phe135Cys)
|
rs104893761
|
|
NM_000306.4(POU1F1):c.427C>T (p.Arg143Ter)
|
|
|
NM_000306.4(POU1F1):c.428G>A (p.Arg143Gln)
|
rs104893759
|
|
NM_000306.4(POU1F1):c.433A>T (p.Lys145Ter)
|
rs104893763
|
|
NM_000306.4(POU1F1):c.514C>T (p.Arg172Ter)
|
rs104893754
|
|
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)
|
rs104893765
|
|
NM_000306.4(POU1F1):c.537C>G (p.Ser179Arg)
|
rs104893766
|
|
NM_000306.4(POU1F1):c.577T>C (p.Trp193Arg)
|
rs104893758
|
|
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs)
|
rs772390221
|
|
NM_000306.4(POU1F1):c.665+1G>T
|
rs515726221
|
|
NM_000306.4(POU1F1):c.715C>T (p.Pro239Ser)
|
rs104893762
|
|
NM_000306.4(POU1F1):c.71C>T (p.Pro24Leu)
|
rs104893757
|
|
NM_000306.4(POU1F1):c.747del (p.Glu250fs)
|
rs587776798
|
|
NM_000306.4(POU1F1):c.748G>T (p.Glu250Ter)
|
rs104893760
|
|
NM_000306.4(POU1F1):c.775dup (p.Arg259fs)
|
rs587776799
|
|
NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp)
|
rs104893755
|
|
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)
|
rs62642583
|
|
NM_000329.2:c.1_1602del
|
|
|
NM_000329.3(RPE65):c.1002del (p.Phe334fs)
|
|
|
NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter)
|
rs2100817136
|
|
NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)
|
|
|
NM_000329.3(RPE65):c.1040G>A (p.Arg347His)
|
rs562037932
|
|
NM_000329.3(RPE65):c.1059dup (p.Lys354fs)
|
rs2100817031
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)
|
rs62646883
|
|
NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter)
|
rs1571164333
|
|
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)
|
|
|
NM_000329.3(RPE65):c.10del (p.Gln4fs)
|
rs747393487
|
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989
|
|
NM_000329.3(RPE65):c.1115dup (p.Leu372fs)
|
rs2100816844
|
|
NM_000329.3(RPE65):c.1148T>G (p.Leu383Ter)
|
|
|
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs)
|
rs62636295
|
|
NM_000329.3(RPE65):c.1209_1210insCTGG (p.Glu404fs)
|
rs1645826120
|
|
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)
|
rs1571158755
|
|
NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter)
|
|
|
NM_000329.3(RPE65):c.1282_1303del (p.Gly428fs)
|
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)
|
|
|
NM_000329.3(RPE65):c.1299T>A (p.Tyr433Ter)
|
|
|
NM_000329.3(RPE65):c.131G>C (p.Arg44Pro)
|
|
|
NM_000329.3(RPE65):c.1338+1G>A
|
rs1057518922
|
|
NM_000329.3(RPE65):c.1360del (p.Thr454fs)
|
rs2100807036
|
|
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)
|
rs1645823028
|
|
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)
|
rs62637006
|
|
NM_000329.3(RPE65):c.138del (p.Pro47fs)
|
rs61752865
|
|
NM_000329.3(RPE65):c.1396_1397dup (p.Pro467fs)
|
|
|
NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter)
|
|
|
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)
|
rs774211361
|
|
NM_000329.3(RPE65):c.142_143del (p.Gly48fs)
|
|
|
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)
|
rs1571158279
|
|
NM_000329.3(RPE65):c.1451-1G>A
|
rs1317871521
|
|
NM_000329.3(RPE65):c.1451-2del
|
rs2100805351
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000329.3(RPE65):c.1459del (p.Val486_Leu487insTer)
|
|
|
NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs)
|
rs1645945978
|
|
NM_000329.3(RPE65):c.1501_1505del (p.Tyr501fs)
|
rs2100805193
|
|
NM_000329.3(RPE65):c.1503T>A (p.Tyr501Ter)
|
|
|
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)
|
rs1193631220
|
|
NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)
|
rs2100804954
|
|
NM_000329.3(RPE65):c.1590del (p.Phe530fs)
|
rs281865292
|
|
NM_000329.3(RPE65):c.1596dup (p.Ser533fs)
|
rs1645806893
|
|
NM_000329.3(RPE65):c.190C>T (p.Gln64Ter)
|
rs1645945599
|
|
NM_000329.3(RPE65):c.190del (p.Gln64fs)
|
|
|
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)
|
rs1344724754
|
|
NM_000329.3(RPE65):c.208T>G (p.Phe70Val)
|
|
|
NM_000329.3(RPE65):c.227A>C (p.His76Pro)
|
rs1571172233
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
NM_000329.3(RPE65):c.247T>C (p.Phe83Leu)
|
rs2100828545
|
|
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
|
|
|
NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)
|
|
|
NM_000329.3(RPE65):c.336C>A (p.Cys112Ter)
|
|
|
NM_000329.3(RPE65):c.34dup (p.Tyr12fs)
|
|
|
NM_000329.3(RPE65):c.354-2A>G
|
|
|
NM_000329.3(RPE65):c.361del (p.Ser121fs)
|
rs121918844
|
|
NM_000329.3(RPE65):c.361dup (p.Ser121fs)
|
rs121918844
|
|
NM_000329.3(RPE65):c.366C>A (p.Tyr122Ter)
|
|
|
NM_000329.3(RPE65):c.3G>A (p.Met1Ile)
|
rs1357241537
|
|
NM_000329.3(RPE65):c.405T>A (p.Asn135Lys)
|
rs1645928294
|
|
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
|
|
|
NM_000329.3(RPE65):c.411C>G (p.Tyr137Ter)
|
|
|
NM_000329.3(RPE65):c.421G>T (p.Glu141Ter)
|
rs1469460289
|
|
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)
|
rs61752880
|
|
NM_000329.3(RPE65):c.432C>G (p.Tyr144Ter)
|
rs56021047
|
|
NM_000329.3(RPE65):c.440_441del (p.Thr147fs)
|
rs1201299067
|
|
NM_000329.3(RPE65):c.444_445del (p.Glu148fs)
|
rs1645927790
|
|
NM_000329.3(RPE65):c.46_49del (p.Phe16fs)
|
rs866809120
|
|
NM_000329.3(RPE65):c.495+1dup
|
rs281865288
|
|
NM_000329.3(RPE65):c.504_580del (p.Cys169fs)
|
rs2100821707
|
|
NM_000329.3(RPE65):c.507C>A (p.Cys169Ter)
|
rs1645898563
|
|
NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)
|
|
|
NM_000329.3(RPE65):c.528_529del (p.Ala177fs)
|
rs2100821898
|
|
NM_000329.3(RPE65):c.544C>T (p.His182Tyr)
|
rs61752884
|
|
NM_000329.3(RPE65):c.545A>G (p.His182Arg)
|
rs1459110114
|
|
NM_000329.3(RPE65):c.596del (p.Asn199fs)
|
|
|
NM_000329.3(RPE65):c.601del (p.Ser201fs)
|
|
|
NM_000329.3(RPE65):c.615_616del (p.Ile206fs)
|
rs61752888
|
|
NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)
|
|
|
NM_000329.3(RPE65):c.61del (p.Glu21fs)
|
rs758550330
|
|
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter)
|
rs777966849
|
|
NM_000329.3(RPE65):c.644-1G>A
|
|
|
NM_000329.3(RPE65):c.644-2A>T
|
rs61752891
|
|
NM_000329.3(RPE65):c.646A>T (p.Lys216Ter)
|
|
|
NM_000329.3(RPE65):c.672_673del (p.Glu224fs)
|
|
|
NM_000329.3(RPE65):c.693C>A (p.Cys231Ter)
|
rs2100819756
|
|
NM_000329.3(RPE65):c.706A>T (p.Lys236Ter)
|
rs1645885900
|
|
NM_000329.3(RPE65):c.716dup (p.Tyr239Ter)
|
|
|
NM_000329.3(RPE65):c.717C>G (p.Tyr239Ter)
|
|
|
NM_000329.3(RPE65):c.725+1G>A
|
rs1260969698
|
|
NM_000329.3(RPE65):c.725+1G>T
|
|
|
NM_000329.3(RPE65):c.725+2T>C
|
rs1355979496
|
|
NM_000329.3(RPE65):c.726-1G>A
|
|
|
NM_000329.3(RPE65):c.726-2A>C
|
rs878853372
|
|
NM_000329.3(RPE65):c.726-2A>T
|
rs878853372
|
|
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)
|
rs373652862
|
|
NM_000329.3(RPE65):c.750del (p.Ile250fs)
|
|
|
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)
|
rs1553153135
|
|
NM_000329.3(RPE65):c.775dup (p.Ile259fs)
|
rs2100819197
|
|
NM_000329.3(RPE65):c.777dup (p.Asn260Ter)
|
rs2100819190
|
|
NM_000329.3(RPE65):c.785_787del (p.Phe262_Lys263delinsTer)
|
rs2100819151
|
|
NM_000329.3(RPE65):c.803G>A (p.Trp268Ter)
|
|
|
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)
|
rs988133284
|
|
NM_000329.3(RPE65):c.829_833del (p.Asp277fs)
|
rs1645882447
|
|
NM_000329.3(RPE65):c.843_858+7del
|
rs1645882103
|
|
NM_000329.3(RPE65):c.858+1G>A
|
rs61752899
|
|
NM_000329.3(RPE65):c.858+1G>C
|
|
|
NM_000329.3(RPE65):c.858+1G>T
|
rs61752899
|
|
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)
|
rs281865289
|
|
NM_000329.3(RPE65):c.859del
|
rs2100818777
|
|
NM_000329.3(RPE65):c.886del (p.Arg296fs)
|
rs746127684
|
|
NM_000329.3(RPE65):c.886dup (p.Arg296fs)
|
rs746127684
|
|
NM_000329.3(RPE65):c.893del (p.Lys298fs)
|
rs61752902
|
|
NM_000329.3(RPE65):c.894del (p.Lys298fs)
|
rs61752903
|
|
NM_000329.3(RPE65):c.89dup (p.Thr31fs)
|
rs281865286
|
|
NM_000329.3(RPE65):c.906_907del (p.Asn302fs)
|
|
|
NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)
|
rs2100818575
|
|
NM_000329.3(RPE65):c.93A>G (p.Thr31=)
|
rs2100834154
|
|
NM_000329.3(RPE65):c.943_950del (p.Ile315fs)
|
rs2100818444
|
|
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)
|
rs768448761
|
|
NM_000329.3(RPE65):c.95-1G>C
|
|
|
NM_000329.3(RPE65):c.962dup (p.Asn321fs)
|
rs61752906
|
|
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)
|
rs1169420841
|
|
NM_000329.3(RPE65):c.985del (p.Cys329fs)
|
|
|
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)
|
rs61752908
|
|
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup)
|
rs1571165140
|
|
NM_000329.3(RPE65):c.998+1G>A
|
rs1645879495
|
|
NM_000329.3(RPE65):c.999-1G>T
|
|
|
NM_000329.3(RPE65):c.999-2A>G
|
|
|
NM_000329.3(RPE65):c.[1206G>A;1207_1210dup]
|
|
|
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)
|
rs121908552
|
|
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)
|
rs80338788
|
|
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)
|
rs80338957
|
|
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg)
|
rs1598406692
|
|
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)
|
rs80338792
|
|
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
|
rs121908547
|
|
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu)
|
rs121908553
|
|
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)
|
rs80338962
|
|
NM_000334.4(SCN4A):c.685del (p.Thr229fs)
|
rs1909597270
|
|
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu)
|
rs80338951
|
|
NM_000350.3(ABCA4):c.1225del (p.Arg409fs)
|
rs387906387
|
|
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)
|
rs61749423
|
|
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)
|
rs104894158
|
|
NM_000426.3(LAMA2):c.[2049_2050delAG];[523G>T]
|
|
|
NM_000426.3(LAMA2):c.[2461A>C;8282T>C]
|
|
|
NM_000426.4(LAMA2):c.1122del (p.Gly376fs)
|
rs1338860420
|
|
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.1306+2T>G
|
rs1326401124
|
|
NM_000426.4(LAMA2):c.1307-2A>G
|
|
|
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
|
|
|
NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter)
|
|
|
NM_000426.4(LAMA2):c.1823_1824del (p.Ser607_Tyr608insTer)
|
|
|
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)
|
rs746844753
|
|
NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter)
|
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
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.2350dup (p.Tyr784fs)
|
rs1554260284
|
|
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)
|
rs750731624
|
|
NM_000426.4(LAMA2):c.2718del (p.Phe906fs)
|
|
|
NM_000426.4(LAMA2):c.2749+1G>A
|
rs759555791
|
|
NM_000426.4(LAMA2):c.2834del (p.Gly945fs)
|
rs2114432671
|
|
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)
|
rs398123371
|
|
NM_000426.4(LAMA2):c.3037+1G>T
|
rs1773291512
|
|
NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter)
|
rs1774316033
|
|
NM_000426.4(LAMA2):c.3329del (p.Leu1110fs)
|
rs1583470073
|
|
NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs)
|
rs1583475938
|
|
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs)
|
rs398123372
|
|
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)
|
rs121913569
|
|
NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs)
|
rs750220830
|
|
NM_000426.4(LAMA2):c.3886_3889del (p.Ile1296fs)
|
rs1774572282
|
|
NM_000426.4(LAMA2):c.3924+2T>C
|
rs1554269966
|
|
NM_000426.4(LAMA2):c.3938del (p.Tyr1313fs)
|
rs2114502928
|
|
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)
|
rs1180309541
|
|
NM_000426.4(LAMA2):c.397-4_478del
|
rs1554217494
|
|
NM_000426.4(LAMA2):c.4058+1G>A
|
rs2114503272
|
|
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)
|
rs775112258
|
|
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)
|
rs143680577
|
|
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.4524-2A>T
|
rs1554278541
|
|
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.4739dup (p.Leu1581fs)
|
rs1392196900
|
|
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.498G>A (p.Trp166Ter)
|
rs553221833
|
|
NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs)
|
rs1554286963
|
|
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.5290dup (p.Glu1764fs)
|
rs1415944134
|
|
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter)
|
rs746201268
|
|
NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter)
|
rs1583756552
|
|
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter)
|
rs922640025
|
|
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs)
|
rs886039482
|
|
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del)
|
rs1363017615
|
|
NM_000426.4(LAMA2):c.6636_6637del (p.Gly2213fs)
|
|
|
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)
|
rs121913576
|
|
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs)
|
rs398123385
|
|
NM_000426.4(LAMA2):c.7452-1G>A
|
rs1554304931
|
|
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)
|
rs1480934961
|
|
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs)
|
rs1784335277
|
|
NM_000426.4(LAMA2):c.7750-1713_7899-2153del
|
|
|
NM_000426.4(LAMA2):c.7778del (p.Gly2593fs)
|
rs2114848887
|
|
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter)
|
rs766920075
|
|
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)
|
rs727502851
|
|
NM_000426.4(LAMA2):c.7898+1G>A
|
rs1784599832
|
|
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs)
|
rs886039541
|
|
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.825del (p.Tyr276fs)
|
rs1562275792
|
|
NM_000426.4(LAMA2):c.8265del (p.Glu2756fs)
|
|
|
NM_000426.4(LAMA2):c.8380_8383del (p.Arg2794fs)
|
rs2114890786
|
|
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs)
|
rs2114900655
|
|
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg)
|
rs886039896
|
|
NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer)
|
rs2114910650
|
|
NM_000426.4(LAMA2):c.908dup (p.Asn303fs)
|
rs2114964219
|
|
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)
|
rs121913571
|
|
NM_000426.4:c.(6992+1_6993-1)_(7300+1_7301-1)del
|
|
|
NM_000430.4(PAFAH1B1):c.1002+1G>A
|
rs113994203
|
|
NM_000430.4(PAFAH1B1):c.1002+5G>A
|
rs587784235
|
|
NM_000430.4(PAFAH1B1):c.1003-30_1032del
|
rs1555527743
|
|
NM_000430.4(PAFAH1B1):c.1009C>T (p.His337Tyr)
|
rs587784236
|
|
NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs)
|
rs797045855
|
|
NM_000430.4(PAFAH1B1):c.1024_1031del (p.Arg342fs)
|
rs587784237
|
|
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs)
|
rs113994200
|
|
NM_000430.4(PAFAH1B1):c.1050dup (p.Lys351fs)
|
rs113994200
|
|
NM_000430.4(PAFAH1B1):c.1063del (p.Ser355fs)
|
rs587784238
|
|
NM_000430.4(PAFAH1B1):c.1064G>A (p.Ser355Asn)
|
rs587784239
|
|
NM_000430.4(PAFAH1B1):c.1083_1084dup (p.Leu362fs)
|
rs2151673946
|
|
NM_000430.4(PAFAH1B1):c.1100del (p.Tyr367fs)
|
rs587784240
|
|
NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter)
|
rs587784241
|
|
NM_000430.4(PAFAH1B1):c.1135C>T (p.His379Tyr)
|
rs587784242
|
|
NM_000430.4(PAFAH1B1):c.1136A>G (p.His379Arg)
|
rs2151674034
|
|
NM_000430.4(PAFAH1B1):c.1159+1G>A
|
rs1057520515
|
|
NM_000430.4(PAFAH1B1):c.1159+2T>A
|
rs587784243
|
|
NM_000430.4(PAFAH1B1):c.1159G>T (p.Asp387Tyr)
|
rs587784244
|
|
NM_000430.4(PAFAH1B1):c.1165C>T (p.His389Tyr)
|
rs587784245
|
|
NM_000430.4(PAFAH1B1):c.1196G>C (p.Ser399Thr)
|
rs587784248
|
|
NM_000430.4(PAFAH1B1):c.1201G>C (p.Asp401His)
|
rs587784249
|
|
NM_000430.4(PAFAH1B1):c.1233A>C (p.Ter411Cys)
|
rs587784251
|
|
NM_000430.4(PAFAH1B1):c.136_137del (p.Lys46fs)
|
rs587784252
|
|
NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs)
|
rs587784253
|
|
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs)
|
rs113994198
|
|
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs)
|
rs113994198
|
|
NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg)
|
rs587784254
|
|
NM_000430.4(PAFAH1B1):c.177del (p.Arg60fs)
|
rs1555526309
|
|
NM_000430.4(PAFAH1B1):c.190_192+5dup
|
rs797045857
|
|
NM_000430.4(PAFAH1B1):c.192+1G>A
|
rs587784256
|
|
NM_000430.4(PAFAH1B1):c.192+1G>T
|
rs587784256
|
|
NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn)
|
rs587784257
|
|
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)
|
rs121434489
|
|
NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter)
|
rs587784258
|
|
NM_000430.4(PAFAH1B1):c.288_289dup (p.Arg97fs)
|
rs797045858
|
|
NM_000430.4(PAFAH1B1):c.305dup (p.Tyr102Ter)
|
rs587784259
|
|
NM_000430.4(PAFAH1B1):c.33-3C>T
|
rs587784260
|
|
NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter)
|
rs886041341
|
|
NM_000430.4(PAFAH1B1):c.347dup (p.His117fs)
|
rs797045859
|
|
NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp)
|
rs587784261
|
|
NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter)
|
rs587784262
|
|
NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val)
|
rs587784263
|
|
NM_000430.4(PAFAH1B1):c.399+1G>A
|
rs587784264
|
|
NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile)
|
rs587784265
|
|
NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter)
|
rs587784266
|
|
NM_000430.4(PAFAH1B1):c.425T>C (p.Phe142Ser)
|
rs2151663957
|
|
NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter)
|
rs587784267
|
|
NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs)
|
rs797045861
|
|
NM_000430.4(PAFAH1B1):c.446A>G (p.His149Arg)
|
rs121434482
|
|
NM_000430.4(PAFAH1B1):c.455_456del (p.Ser152fs)
|
rs587784268
|
|
NM_000430.4(PAFAH1B1):c.460C>T (p.Gln154Ter)
|
rs587784269
|
|
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser)
|
rs121434487
|
|
NM_000430.4(PAFAH1B1):c.505T>C (p.Ser169Pro)
|
rs121434484
|
|
NM_000430.4(PAFAH1B1):c.514dup (p.Met172fs)
|
rs1555526718
|
|
NM_000430.4(PAFAH1B1):c.523A>T (p.Lys175Ter)
|
rs797045061
|
|
NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs)
|
rs587784270
|
|
NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs)
|
rs587784271
|
|
NM_000430.4(PAFAH1B1):c.537dup (p.Gln180fs)
|
rs587784271
|
|
NM_000430.4(PAFAH1B1):c.568+1G>A
|
rs1555526733
|
|
NM_000430.4(PAFAH1B1):c.569-10T>C
|
rs113994202
|
|
NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg)
|
rs587784272
|
|
NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter)
|
rs587784273
|
|
NM_000430.4(PAFAH1B1):c.644_651del (p.Thr215fs)
|
rs587784274
|
|
NM_000430.4(PAFAH1B1):c.647_648del (p.Ile216fs)
|
rs587784275
|
|
NM_000430.4(PAFAH1B1):c.657G>A (p.Trp219Ter)
|
rs587784276
|
|
NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs)
|
rs587784277
|
|
NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter)
|
rs587784278
|
|
NM_000430.4(PAFAH1B1):c.667dup (p.Thr223fs)
|
rs797045864
|
|
NM_000430.4(PAFAH1B1):c.671G>A (p.Gly224Asp)
|
rs587784281
|
|
NM_000430.4(PAFAH1B1):c.675C>G (p.Tyr225Ter)
|
rs587784282
|
|
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs)
|
rs797045865
|
|
NM_000430.4(PAFAH1B1):c.716dup (p.Met239fs)
|
rs587784284
|
|
NM_000430.4(PAFAH1B1):c.71_72dup (p.Glu25fs)
|
rs797045866
|
|
NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro)
|
rs121434488
|
|
NM_000430.4(PAFAH1B1):c.728_732dup (p.Asp245fs)
|
rs797045867
|
|
NM_000430.4(PAFAH1B1):c.72T>G (p.Tyr24Ter)
|
rs587784285
|
|
NM_000430.4(PAFAH1B1):c.730C>T (p.Gln244Ter)
|
rs587784286
|
|
NM_000430.4(PAFAH1B1):c.770_772delinsTGACCCA (p.Thr257fs)
|
rs797045868
|
|
NM_000430.4(PAFAH1B1):c.773_774del (p.Val258fs)
|
rs797045869
|
|
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter)
|
rs121434483
|
|
NM_000430.4(PAFAH1B1):c.829dup (p.His277fs)
|
rs797045870
|
|
NM_000430.4(PAFAH1B1):c.830A>C (p.His277Pro)
|
rs121434490
|
|
NM_000430.4(PAFAH1B1):c.841T>C (p.Cys281Arg)
|
rs587784288
|
|
NM_000430.4(PAFAH1B1):c.84T>G (p.Tyr28Ter)
|
rs369259961
|
|
NM_000430.4(PAFAH1B1):c.851G>A (p.Trp284Ter)
|
rs587784289
|
|
NM_000430.4(PAFAH1B1):c.852G>A (p.Trp284Ter)
|
rs1567559851
|
|
NM_000430.4(PAFAH1B1):c.900+1G>A
|
rs587784290
|
|
NM_000430.4(PAFAH1B1):c.910del (p.Ser304fs)
|
rs587784292
|
|
NM_000430.4(PAFAH1B1):c.911del (p.Ser304fs)
|
rs797045871
|
|
NM_000430.4(PAFAH1B1):c.92T>C (p.Phe31Ser)
|
rs121434486
|
|
NM_000430.4(PAFAH1B1):c.933dup (p.Leu312fs)
|
rs797045872
|
|
NM_000430.4(PAFAH1B1):c.949G>C (p.Asp317His)
|
rs121434485
|
|
NM_000430.4(PAFAH1B1):c.991_1002+10del
|
rs1567561137
|
|
NM_000432.4(MYL2):c.431_432del (p.Pro144fs)
|
rs1566147422
|
|
NM_000440.3(PDE6A):c.2027+5G>T
|
rs794727166
|
|
NM_000475.5(NR0B1):c.0_1168+260del
|
|
|
NM_000475.5(NR0B1):c.1042del (p.Glu348fs)
|
rs1926563553
|
|
NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter)
|
rs104894908
|
|
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
|
|
|
NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter)
|
rs104894886
|
|
NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs)
|
rs1555972957
|
|
NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp)
|
rs104894900
|
|
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)
|
rs386134263
|
|
NM_000475.5(NR0B1):c.1142T>A (p.Leu381His)
|
rs104894899
|
|
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)
|
rs104894899
|
|
NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn)
|
rs104894896
|
|
NM_000475.5(NR0B1):c.1168+1_1168+20del
|
rs1555972943
|
|
NM_000475.5(NR0B1):c.1168+1del
|
rs2147006209
|
|
NM_000475.5(NR0B1):c.1169-112_*17delinsTG
|
rs1555972632
|
|
NM_000475.5(NR0B1):c.1169-1G>A
|
rs1555972666
|
|
NM_000475.5(NR0B1):c.1169-1G>T
|
|
|
NM_000475.5(NR0B1):c.116G>A (p.Trp39Ter)
|
rs1569269179
|
|
NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter)
|
rs104894894
|
|
NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter)
|
rs104894906
|
|
NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter)
|
|
|
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs)
|
rs1569268070
|
|
NM_000475.5(NR0B1):c.1234_1235del (p.Leu411_Ser412insTer)
|
rs1555972655
|
|
NM_000475.5(NR0B1):c.1267del (p.His423fs)
|
rs1569268048
|
|
NM_000475.5(NR0B1):c.1274G>T (p.Arg425Ile)
|
rs387907373
|
|
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
|
|
|
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
|
|
|
NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser)
|
rs104894897
|
|
NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile)
|
rs28935481
|
|
NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro)
|
rs1555972641
|
|
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
|
|
|
NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs)
|
rs1555972640
|
|
NM_000475.5(NR0B1):c.1376_1377delinsG (p.Asp459fs)
|
|
|
NM_000475.5(NR0B1):c.155_156del (p.Glu52fs)
|
rs2147007424
|
|
NM_000475.5(NR0B1):c.159dup (p.Leu54fs)
|
rs1926602170
|
|
NM_000475.5(NR0B1):c.215_218dup (p.His73fs)
|
rs1926599738
|
|
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter)
|
rs2147007353
|
|
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
|
|
|
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
|
|
|
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter)
|
rs104894892
|
|
NM_000475.5(NR0B1):c.277del (p.Ala93fs)
|
rs1555973189
|
|
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
|
|
|
NM_000475.5(NR0B1):c.315G>A (p.Trp105Ter)
|
rs132630327
|
|
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter)
|
rs1555973172
|
|
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
|
|
|
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
|
|
|
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
|
|
|
NM_000475.5(NR0B1):c.501del (p.Gly169fs)
|
rs1569268976
|
|
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
|
|
|
NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter)
|
rs104894891
|
|
NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter)
|
rs1555973132
|
|
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter)
|
rs1555973131
|
|
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter)
|
rs767828388
|
|
NM_000475.5(NR0B1):c.543del (p.Gly183fs)
|
rs1555973120
|
|
NM_000475.5(NR0B1):c.545_546insCCCA (p.Gly183fs)
|
rs1555973119
|
|
NM_000475.5(NR0B1):c.548dup (p.Gly183_Lys184insTer)
|
rs1555973117
|
|
NM_000475.5(NR0B1):c.551_552del (p.Lys184fs)
|
rs1555973115
|
|
NM_000475.5(NR0B1):c.552del (p.Glu185fs)
|
rs1555973115
|
|
NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter)
|
rs104894898
|
|
NM_000475.5(NR0B1):c.638_654delinsCATC (p.Leu213fs)
|
rs1555973091
|
|
NM_000475.5(NR0B1):c.652dup (p.Thr218fs)
|
rs1555973092
|
|
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
|
|
|
NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter)
|
rs104894889
|
|
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)
|
rs1131691564
|
|
NM_000475.5(NR0B1):c.754del (p.Gln252fs)
|
rs1555973063
|
|
NM_000475.5(NR0B1):c.765C>A (p.Cys255Ter)
|
rs1311271225
|
|
NM_000475.5(NR0B1):c.765del (p.Cys255fs)
|
|
|
NM_000475.5(NR0B1):c.773C>A (p.Ala258Asp)
|
rs1555973058
|
|
NM_000475.5(NR0B1):c.788T>A (p.Leu263Ter)
|
rs104894887
|
|
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)
|
rs104894888
|
|
NM_000475.5(NR0B1):c.806T>A (p.Val269Asp)
|
rs1555973045
|
|
NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter)
|
rs104894895
|
|
NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter)
|
rs753734546
|
|
NM_000475.5(NR0B1):c.839del (p.Leu280fs)
|
|
|
NM_000475.5(NR0B1):c.844C>T (p.Gln282Ter)
|
rs1555973031
|
|
NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter)
|
rs104894890
|
|
NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1])
|
rs1601792367
|
|
NM_000475.5(NR0B1):c.871T>C (p.Trp291Arg)
|
rs1555973021
|
|
NM_000475.5(NR0B1):c.872G>C (p.Trp291Ser)
|
rs1489209061
|
|
NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys)
|
rs28935482
|
|
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro)
|
rs104894907
|
|
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter)
|
rs1555973010
|
|
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)
|
rs1324519932
|
|
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter)
|
rs1555972994
|
|
NM_000515.5(GH1):c.172-2A>T
|
rs863223309
|
|
NM_000515.5(GH1):c.172G>A (p.Glu58Lys)
|
rs2144739391
|
|
NM_000515.5(GH1):c.173A>C (p.Glu58Ala)
|
rs2144739380
|
|
NM_000515.5(GH1):c.176A>G (p.Glu59Gly)
|
rs2144739370
|
|
NM_000515.5(GH1):c.236G>C (p.Cys79Ser)
|
rs137853222
|
|
NM_000515.5(GH1):c.245_246del (p.Glu82fs)
|
|
|
NM_000515.5(GH1):c.291+1G>A
|
rs71640277
|
|
NM_000515.5(GH1):c.291+1G>C
|
rs71640277
|
|
NM_000515.5(GH1):c.291+28G>A
|
rs863223306
|
|
NM_000515.5(GH1):c.291+29_291+46del
|
rs2144738731
|
|
NM_000515.5(GH1):c.291+2T>C
|
rs863223310
|
|
NM_000515.5(GH1):c.291+5G>A
|
rs863223307
|
|
NM_000515.5(GH1):c.291+6T>C
|
rs797044450
|
|
NM_000515.5(GH1):c.292-37_292-16del
|
|
|
NM_000515.5(GH1):c.307C>T (p.Arg103Cys)
|
rs137853220
|
|
NM_000515.5(GH1):c.413A>G (p.Asp138Gly)
|
rs137853221
|
|
NM_000515.5(GH1):c.456+1G>C
|
rs797044449
|
|
NM_000515.5(GH1):c.456+1G>T
|
rs797044449
|
|
NM_000515.5(GH1):c.456+5G>C
|
rs863223308
|
|
NM_000515.5(GH1):c.52del (p.Leu18fs)
|
|
|
NM_000515.5(GH1):c.59G>A (p.Trp20Ter)
|
rs137853219
|
|
NM_000530.8(MPZ):c.371C>A (p.Thr124Lys)
|
rs121913595
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)
|
rs121913586
|
|
NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs)
|
rs1571818007
|
|
NM_000530.8(MPZ):c.558del (p.Arg186fs)
|
rs1553259568
|
|
NM_000530.8(MPZ):c.643C>T (p.Gln215Ter)
|
rs121913593
|
|
NM_000539.3(RHO):c.269G>A (p.Gly90Asp)
|
rs104893790
|
|
NM_000539.3(RHO):c.281C>T (p.Thr94Ile)
|
rs104893796
|
|
NM_000539.3(RHO):c.549dup (p.Gln184fs)
|
rs1560046845
|
|
NM_000539.3(RHO):c.68C>A (p.Pro23His)
|
rs104893768
|
|
NM_000539.3(RHO):c.875C>A (p.Ala292Glu)
|
rs104893789
|
|
NM_000539.3(RHO):c.891C>G (p.Ser297Arg)
|
rs142285818
|
|
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.10817T>C (p.Leu3606Pro)
|
rs118192127
|
|
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.13703T>C (p.Leu4568Pro)
|
rs118192131
|
|
NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn)
|
rs118192132
|
|
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.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.14761_14762delinsAC (p.Phe4921Thr)
|
rs118192171
|
|
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.1565A>C (p.Tyr522Ser)
|
rs118192162
|
|
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.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.3485C>T (p.Thr1162Ile)
|
rs1280346095
|
|
NM_000540.3(RYR1):c.4496_4497del (p.Phe1499fs)
|
rs1568476203
|
|
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)
|
rs118192161
|
|
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.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.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.742G>C (p.Gly248Arg)
|
rs1801086
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp)
|
rs193922820
|
|
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.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_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)
|
rs5030818
|
|
NM_000554.6(CRX):c.100+2T>G
|
|
|
NM_000554.6(CRX):c.100+3_100+5delinsTTA
|
rs1064796109
|
|
NM_000554.6(CRX):c.101-1G>T
|
rs1968115710
|
|
NM_000554.6(CRX):c.116_127del (p.Gln39_Glu42del)
|
|
|
NM_000554.6(CRX):c.124G>A (p.Glu42Lys)
|
rs863224863
|
|
NM_000554.6(CRX):c.127C>T (p.Arg43Cys)
|
rs1437021651
|
|
NM_000554.6(CRX):c.152_153del (p.Leu51fs)
|
rs1968116898
|
|
NM_000554.6(CRX):c.159del (p.Glu53fs)
|
|
|
NM_000554.6(CRX):c.191del (p.Pro64fs)
|
rs1968117526
|
|
NM_000554.6(CRX):c.238G>A (p.Glu80Lys)
|
rs62654391
|
|
NM_000554.6(CRX):c.239A>C (p.Glu80Ala)
|
rs104894671
|
|
NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer)
|
rs1968160841
|
|
NM_000554.6(CRX):c.292C>T (p.Arg98Ter)
|
rs751018117
|
|
NM_000554.6(CRX):c.404del (p.Pro135fs)
|
rs1064797246
|
|
NM_000554.6(CRX):c.431_434del (p.Pro144fs)
|
rs1968165008
|
|
NM_000554.6(CRX):c.443del (p.Gly148fs)
|
rs1968165374
|
|
NM_000554.6(CRX):c.447dup (p.Ser150fs)
|
rs61748444
|
|
NM_000554.6(CRX):c.449C>G (p.Ser150Ter)
|
rs864309706
|
|
NM_000554.6(CRX):c.450del (p.Gly151fs)
|
rs1968165665
|
|
NM_000554.6(CRX):c.458del (p.Pro153fs)
|
rs1968165787
|
|
NM_000554.6(CRX):c.489G>A (p.Trp163Ter)
|
rs1968166379
|
|
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)
|
rs1599991611
|
|
NM_000554.6(CRX):c.500del (p.Ala166_Ser167insTer)
|
|
|
NM_000554.6(CRX):c.503_504del (p.Glu168fs)
|
rs61748446
|
|
NM_000554.6(CRX):c.512del (p.Leu171fs)
|
rs1968166909
|
|
NM_000554.6(CRX):c.520del (p.Ala174fs)
|
rs281865515
|
|
NM_000554.6(CRX):c.522_523dup (p.Gln175fs)
|
rs2123743198
|
|
NM_000554.6(CRX):c.523C>T (p.Gln175Ter)
|
rs1968167093
|
|
NM_000554.6(CRX):c.534_538del (p.Leu179fs)
|
|
|
NM_000554.6(CRX):c.549del (p.Pro184fs)
|
rs1968167603
|
|
NM_000554.6(CRX):c.549dup (p.Pro184fs)
|
|
|
NM_000554.6(CRX):c.551dup (p.Ser185fs)
|
|
|
NM_000554.6(CRX):c.564del (p.Ala189fs)
|
rs2123743284
|
|
NM_000554.6(CRX):c.569_570del (p.Pro190fs)
|
|
|
NM_000554.6(CRX):c.570del (p.Tyr191fs)
|
rs1968168564
|
|
NM_000554.6(CRX):c.571del (p.Tyr191fs)
|
rs61748452
|
|
NM_000554.6(CRX):c.585C>A (p.Tyr195Ter)
|
rs373497612
|
|
NM_000554.6(CRX):c.590del (p.Pro197fs)
|
rs1968169100
|
|
NM_000554.6(CRX):c.606C>A (p.Cys202Ter)
|
|
|
NM_000554.6(CRX):c.615del (p.Ser206fs)
|
rs281865516
|
|
NM_000554.6(CRX):c.624T>G (p.Tyr208Ter)
|
rs2123743395
|
|
NM_000554.6(CRX):c.650del (p.Gly217fs)
|
rs281865517
|
|
NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs)
|
|
|
NM_000554.6(CRX):c.661del (p.Tyr221fs)
|
rs864309708
|
|
NM_000554.6(CRX):c.682C>T (p.Gln228Ter)
|
|
|
NM_000554.6(CRX):c.692_716del (p.Gly231fs)
|
|
|
NM_000554.6(CRX):c.695del (p.Pro232fs)
|
rs786205630
|
|
NM_000554.6(CRX):c.714del (p.Gly239fs)
|
|
|
NM_000554.6(CRX):c.76_80del (p.Met26fs)
|
rs2123738324
|
|
NM_000554.6(CRX):c.816del (p.Thr273fs)
|
rs1968173864
|
|
NM_000554.6(CRX):c.[101-1G>A];[122G>A]
|
|
|
NM_000702.4(ATP1A2):c.2869G>T (p.Glu957Ter)
|
rs1558010146
|
|
NM_000702.4(ATP1A2):c.295_296dup (p.Ile100fs)
|
rs1558003446
|
|
NM_000747.3(CHRNB1):c.1072_1073del (p.Leu358fs)
|
|
|
NM_000747.3(CHRNB1):c.1102_1103del (p.Asp368fs)
|
|
|
NM_000747.3(CHRNB1):c.1218-9_1218-7del
|
rs781689096
|
|
NM_000747.3(CHRNB1):c.1347_1355del (p.Glu449_Glu451del)
|
|
|
NM_000747.3(CHRNB1):c.605dup (p.Ile203fs)
|
rs1447564693
|
|
NM_000747.3(CHRNB1):c.727C>T (p.Arg243Cys)
|
rs199875082
|
|
NM_000747.3(CHRNB1):c.759dup (p.Ala254fs)
|
rs2150839428
|
|
NM_000747.3(CHRNB1):c.821_1044del p.Gly274Aspfs
|
|
|
NM_000747.3(CHRNB1):c.823G>T (p.Glu275Ter)
|
rs1908992563
|
|
NM_000747.3(CHRNB1):c.853C>A (p.Leu285Met)
|
rs137852811
|
|
NM_000747.3(CHRNB1):c.865G>A (p.Val289Met)
|
rs137852810
|
|
NM_000747.3(CHRNB1):c.866T>C (p.Val289Ala)
|
rs1908994498
|
|
NM_000747.3(CHRNB1):c.883del (p.Ala295fs)
|
rs780391043
|
|
NM_000751.2(CHRND):c.[1319A>G];[73G>T]
|
|
|
NM_000751.3(CHRND):c.188T>C (p.Leu63Pro)
|
rs121909508
|
|
NM_000751.3(CHRND):c.238G>A (p.Glu80Lys)
|
rs121909504
|
|
NM_000751.3(CHRND):c.812C>A (p.Pro271Gln)
|
rs121909503
|
|
NM_000751.3(CHRND):c.820_820+1del
|
rs879255564
|
|
NM_000751.3(CHRND):c.866C>T (p.Ser289Phe)
|
rs121909502
|
|
NM_000751.3(CHRND):c.901_1048-282del
|
|
|
NM_000823.4(GHRHR):c.665C>A (p.Ala222Glu)
|
rs121918120
|
|
NM_000823.4(GHRHR):c.967C>T (p.Gln323Ter)
|
rs2128598609
|
|
NM_000823.4(GHRHR):c.985A>G (p.Lys329Glu)
|
rs121918121
|
|
NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del
|
|
|
NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter)
|
rs764476239
|
|
NM_000843.4(GRM6):c.722-1G>T
|
rs766594761
|
|
NM_000843.4(GRM6):c.727dup
|
rs281865186
|
|
NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys)
|
rs121912554
|
|
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)
|
rs397518483
|
|
NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp)
|
rs1401531865
|
|
NM_001004334.4(GPR179):c.1667G>A (p.Trp556Ter)
|
|
|
NM_001004334.4(GPR179):c.1784+1G>A
|
rs773126191
|
|
NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr)
|
rs281875234
|
|
NM_001004334.4(GPR179):c.187del (p.Leu63fs)
|
rs794726686
|
|
NM_001004334.4(GPR179):c.278del (p.Pro93fs)
|
rs794726685
|
|
NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs)
|
rs1567728372
|
|
NM_001004334.4(GPR179):c.984del (p.Ser329fs)
|
rs770066665
|
|
NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter)
|
rs1948821736
|
|
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)
|
rs750962965
|
|
NM_001029835.2(CCM2):c.401T>C (p.Leu134Pro)
|
|
|
NM_001029835.2(CCM2):c.428T>G (p.Leu143Arg)
|
|
|
NM_001029835.2(CCM2):c.430G>C (p.Ala144Pro)
|
|
|
NM_001029835.2(CCM2):c.656T>C (p.Leu219Pro)
|
|
|
NM_001031689.3(PLAA):c.1049A>T (p.Glu350Val)
|
rs1824723269
|
|
NM_001031689.3(PLAA):c.120C>G (p.Asp40Glu)
|
rs1587205406
|
|
NM_001031689.3(PLAA):c.2254C>T (p.Leu752Phe)
|
rs1114167457
|
|
NM_001031689.3(PLAA):c.240_241insTAG (p.Pro81Ter)
|
rs1587185107
|
|
NM_001031689.3(PLAA):c.68G>T (p.Gly23Val)
|
rs747956857
|
|
NM_001031689.3(PLAA):c.68dup (p.Leu24fs)
|
rs1554662408
|
|
NM_001031689.3(PLAA):c.829T>C (p.Cys277Arg)
|
rs1824935807
|
|
NM_001031710.3(KLHL7):c.249del (p.Phe83fs)
|
rs1583657698
|
|
NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn)
|
rs1774229245
|
|
NM_001042475.3(CEP85L):c.203T>C (p.Ile68Thr)
|
rs1774228957
|
|
NM_001042475.3(CEP85L):c.232+2T>A
|
rs2115322443
|
|
NM_001042475.3(CEP85L):c.232+3G>T
|
rs754052089
|
|
NM_001042475.3(CEP85L):c.232+5G>A
|
rs1774226763
|
|
NM_001042475.3(CEP85L):c.2T>C (p.Met1Thr)
|
rs1775537467
|
|
NM_001042475.3(CEP85L):c.3G>T (p.Met1Ile)
|
rs2115386562
|
|
NM_001042750.2(STAG2):c.1412_1416+9del
|
rs2148280047
|
|
NM_001042750.2(STAG2):c.205C>T (p.Arg69Ter)
|
rs1569507848
|
|
NM_001042750.2(STAG2):c.3034C>T (p.Arg1012Ter)
|
rs1317614761
|
|
NM_001042750.2(STAG2):c.436C>T (p.Arg146Ter)
|
rs2057753419
|
|
NM_001042750.2(STAG2):c.867del (p.Phe289fs)
|
|
|
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.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.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.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.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_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter)
|
rs121434616
|
|
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs)
|
rs1602577238
|
|
NM_001079872.2(CUL4B):c.1404_1405del (p.Val469fs)
|
rs1556206910
|
|
NM_001079872.2(CUL4B):c.1660C>T (p.Arg554Cys)
|
rs121434615
|
|
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs)
|
rs1057519396
|
|
NM_001079872.2(CUL4B):c.1852+1G>T
|
rs797044862
|
|
NM_001079872.2(CUL4B):c.2264_2265dup (p.Glu756Ter)
|
|
|
NM_001079872.2(CUL4B):c.355G>T (p.Glu119Ter)
|
|
|
NM_001079872.2(CUL4B):c.516del (p.Lys172fs)
|
|
|
NM_001079872.2(CUL4B):c.721C>T (p.Gln241Ter)
|
rs1556220623
|
|
NM_001079872.2(CUL4B):c.784T>A (p.Leu262Met)
|
rs1379343211
|
|
NM_001079872.2(CUL4B):c.847-2A>G
|
rs786200913
|
|
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs)
|
rs1085307760
|
|
NM_001080414.4(CCDC88C):c.255dup (p.Lys86Ter)
|
rs1886637325
|
|
NM_001080414.4(CCDC88C):c.5058+1G>A
|
rs387907320
|
|
NM_001080414.4(CCDC88C):c.5265_5266del (p.Phe1755fs)
|
rs1567043467
|
|
NM_001080414.4(CCDC88C):c.934C>T (p.Arg312Ter)
|
rs369384363
|
|
NM_001080517.3(SETD5):c.2143C>T (p.Gln715Ter)
|
rs925484505
|
|
NM_001080517.3(SETD5):c.2268del (p.Arg757fs)
|
rs2042271732
|
|
NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro)
|
rs797045018
|
|
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile)
|
rs1556024875
|
|
NM_001081550.2(THOC2):c.2138G>A (p.Gly713Asp)
|
rs1556023928
|
|
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys)
|
rs1556302160
|
|
NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr)
|
rs797045021
|
|
NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro)
|
rs797045020
|
|
NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe)
|
rs797045019
|
|
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_001099857.5(IKBKG):c.1110dup (p.Ala371fs)
|
rs1569556615
|
|
NM_001099857.5(IKBKG):c.1117+1G>A
|
rs2071161458
|
|
NM_001099857.5(IKBKG):c.1117+5G>C
|
rs1557236796
|
|
NM_001099857.5(IKBKG):c.1166_1178dup (p.Asp394fs)
|
rs2071167272
|
|
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs)
|
rs782178147
|
|
NM_001099857.5(IKBKG):c.120_129dup (p.Glu44fs)
|
rs2070949441
|
|
NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val)
|
rs137853327
|
|
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val)
|
rs137853322
|
|
NM_001099857.5(IKBKG):c.1259A>G (p.Ter420Trp)
|
rs137853321
|
|
NM_001099857.5(IKBKG):c.184C>T (p.Arg62Ter)
|
rs137853323
|
|
NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter)
|
rs2071063100
|
|
NM_001099857.5(IKBKG):c.518+866C>T
|
rs2071101767
|
|
NM_001099857.5(IKBKG):c.519-3_519dup
|
rs1557236445
|
|
NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter)
|
rs2071133474
|
|
NM_001099922.3(ALG13):c.120A>C (p.Gln40His)
|
rs2147624939
|
|
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr)
|
rs1064796372
|
|
NM_001099922.3(ALG13):c.2458-15_2486del
|
rs770762084
|
|
NM_001099922.3(ALG13):c.280A>G (p.Lys94Glu)
|
rs867599353
|
|
NM_001099922.3(ALG13):c.3013C>T (p.Pro1005Ser)
|
rs1945385727
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
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.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.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.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.449C>G (p.Thr150Ser)
|
rs1553255479
|
|
NM_001100.4(ACTA1):c.461T>C (p.Val154Ala)
|
rs1553255446
|
|
NM_001100.4(ACTA1):c.461_478del (p.Val154_Asp159del)
|
rs1553255444
|
|
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser)
|
rs1064794652
|
|
NM_001100.4(ACTA1):c.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.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.598T>A (p.Tyr200Asn)
|
rs1553255432
|
|
NM_001100.4(ACTA1):c.599A>G (p.Tyr200Cys)
|
rs2102735854
|
|
NM_001100.4(ACTA1):c.60A>C (p.Lys20Asn)
|
rs1659986226
|
|
NM_001100.4(ACTA1):c.611C>T (p.Thr204Ile)
|
|
|
NM_001100.4(ACTA1):c.616G>A (p.Ala206Thr)
|
rs1057521119
|
|
NM_001100.4(ACTA1):c.617C>T (p.Ala206Val)
|
rs1571893145
|
|
NM_001100.4(ACTA1):c.620A>T (p.Glu207Val)
|
|
|
NM_001100.4(ACTA1):c.660C>A (p.Tyr220Ter)
|
rs201823652
|
|
NM_001100.4(ACTA1):c.676G>C (p.Glu226Gln)
|
rs1057521118
|
|
NM_001100.4(ACTA1):c.682G>C (p.Glu228Gln)
|
rs1558081664
|
|
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter)
|
rs1558081664
|
|
NM_001100.4(ACTA1):c.704C>A (p.Ser235Tyr)
|
rs2102735630
|
|
NM_001100.4(ACTA1):c.712del (p.Leu238fs)
|
rs1211561143
|
|
NM_001100.4(ACTA1):c.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.794A>G (p.Gln265Arg)
|
|
|
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.809-2A>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.868G>C (p.Asp290His)
|
rs1553255354
|
|
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)
|
rs121909529
|
|
NM_001100.4(ACTA1):c.920T>G (p.Met307Arg)
|
|
|
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)
|
rs886041309
|
|
NM_001101.5(ACTB):c.1097dup (p.Ser368fs)
|
rs1554329078
|
|
NM_001101.5(ACTB):c.1117A>T (p.Lys373Ter)
|
rs1554329068
|
|
NM_001101.5(ACTB):c.141G>A (p.Met47Ile)
|
rs2128241411
|
|
NM_001101.5(ACTB):c.193C>G (p.Leu65Val)
|
rs281875332
|
|
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe)
|
rs281875332
|
|
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu)
|
rs587779769
|
|
NM_001101.5(ACTB):c.220G>A (p.Gly74Ser)
|
rs587779770
|
|
NM_001101.5(ACTB):c.220G>T (p.Gly74Cys)
|
|
|
NM_001101.5(ACTB):c.224T>C (p.Ile75Thr)
|
rs587779771
|
|
NM_001101.5(ACTB):c.307G>C (p.Val103Leu)
|
rs587779772
|
|
NM_001101.5(ACTB):c.329del (p.Leu110fs)
|
rs1554329523
|
|
NM_001101.5(ACTB):c.349G>A (p.Glu117Lys)
|
rs397515470
|
|
NM_001101.5(ACTB):c.34A>C (p.Asn12His)
|
rs281875331
|
|
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp)
|
rs281875331
|
|
NM_001101.5(ACTB):c.350A>T (p.Glu117Val)
|
rs1554329516
|
|
NM_001101.5(ACTB):c.351G>T (p.Glu117Asp)
|
rs765265404
|
|
NM_001101.5(ACTB):c.356T>C (p.Met119Thr)
|
rs587779773
|
|
NM_001101.5(ACTB):c.359C>T (p.Thr120Ile)
|
rs587779774
|
|
NM_001101.5(ACTB):c.439C>T (p.Arg147Cys)
|
rs2128241302
|
|
NM_001101.5(ACTB):c.446C>T (p.Thr149Ile)
|
rs587779775
|
|
NM_001101.5(ACTB):c.490C>T (p.Pro164Ser)
|
rs1784814856
|
|
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp)
|
rs104894003
|
|
NM_001101.5(ACTB):c.586C>A (p.Arg196Ser)
|
rs281875333
|
|
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys)
|
rs281875333
|
|
NM_001101.5(ACTB):c.587G>A (p.Arg196His)
|
rs281875334
|
|
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser)
|
rs1554329317
|
|
NM_001101.5(ACTB):c.611C>G (p.Ala204Gly)
|
rs587779776
|
|
NM_001101.5(ACTB):c.616C>T (p.Arg206Trp)
|
rs1057518071
|
|
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)
|
rs886039472
|
|
NM_001101.5(ACTB):c.625G>A (p.Val209Met)
|
rs587779777
|
|
NM_001101.5(ACTB):c.628C>T (p.Arg210Cys)
|
rs1584261979
|
|
NM_001101.5(ACTB):c.802G>C (p.Gly268Arg)
|
rs1554329269
|
|
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys)
|
rs1554329216
|
|
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_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)
|
rs2067763458
|
|
NM_001110556.2(FLNA):c.1062_1063del (p.His354fs)
|
|
|
NM_001110556.2(FLNA):c.1065G>A (p.Lys355=)
|
rs1557179325
|
|
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)
|
rs2067761804
|
|
NM_001110556.2(FLNA):c.1112_1113dup (p.Val372fs)
|
rs2148118072
|
|
NM_001110556.2(FLNA):c.1119C>A (p.Tyr373Ter)
|
|
|
NM_001110556.2(FLNA):c.1133_1134del (p.Gln378fs)
|
rs1603362871
|
|
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)
|
rs2067760741
|
|
NM_001110556.2(FLNA):c.116C>G (p.Ala39Gly)
|
rs137853313
|
|
NM_001110556.2(FLNA):c.122G>A (p.Trp41Ter)
|
|
|
NM_001110556.2(FLNA):c.123G>A (p.Trp41Ter)
|
|
|
NM_001110556.2(FLNA):c.138_139dup (p.Asn47fs)
|
rs2067802877
|
|
NM_001110556.2(FLNA):c.1430-1G>T
|
rs786205177
|
|
NM_001110556.2(FLNA):c.145_146del (p.Phe49fs)
|
|
|
NM_001110556.2(FLNA):c.1525_1528del (p.Gly509fs)
|
|
|
NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter)
|
rs1447594194
|
|
NM_001110556.2(FLNA):c.1829-2A>G
|
rs786205183
|
|
NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter)
|
rs2148116288
|
|
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)
|
rs80338841
|
|
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter)
|
rs782178831
|
|
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs)
|
rs2067741257
|
|
NM_001110556.2(FLNA):c.2026_2029dup (p.Ala677fs)
|
|
|
NM_001110556.2(FLNA):c.2190_2193del (p.Tyr731fs)
|
rs863223630
|
|
NM_001110556.2(FLNA):c.2191_2192insGT (p.Tyr731fs)
|
rs2148115776
|
|
NM_001110556.2(FLNA):c.2280+389T>A
|
rs1557178535
|
|
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs)
|
rs2067723474
|
|
NM_001110556.2(FLNA):c.2452del (p.Ala818fs)
|
rs1603361851
|
|
NM_001110556.2(FLNA):c.245A>T (p.Glu82Val)
|
rs28935169
|
|
NM_001110556.2(FLNA):c.2527dup (p.Ala843fs)
|
rs782312089
|
|
NM_001110556.2(FLNA):c.2565+1G>A
|
rs786205186
|
|
NM_001110556.2(FLNA):c.2565+1G>C
|
rs786205186
|
|
NM_001110556.2(FLNA):c.259_260insG (p.Lys87fs)
|
|
|
NM_001110556.2(FLNA):c.2751_2752dup (p.Asp918fs)
|
rs2148114051
|
|
NM_001110556.2(FLNA):c.2752dup (p.Asp918fs)
|
|
|
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)
|
rs398123614
|
|
NM_001110556.2(FLNA):c.2762del (p.Arg921fs)
|
rs1569551736
|
|
NM_001110556.2(FLNA):c.287_291del (p.Arg96fs)
|
rs863223297
|
|
NM_001110556.2(FLNA):c.2941G>T (p.Glu981Ter)
|
|
|
NM_001110556.2(FLNA):c.2947dup (p.Val983fs)
|
rs2148113628
|
|
NM_001110556.2(FLNA):c.2963_2964del (p.Asp988fs)
|
rs2148113604
|
|
NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter)
|
rs1557178045
|
|
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs)
|
rs1603361195
|
|
NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs)
|
rs2148121859
|
|
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter)
|
rs1557177738
|
|
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)
|
rs28935473
|
|
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu)
|
rs1060500716
|
|
NM_001110556.2(FLNA):c.373+1G>A
|
rs863223296
|
|
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)
|
rs2067693064
|
|
NM_001110556.2(FLNA):c.3775C>T (p.Gln1259Ter)
|
rs1557177663
|
|
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs)
|
rs1557177636
|
|
NM_001110556.2(FLNA):c.383C>T (p.Ala128Val)
|
rs137853315
|
|
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter)
|
rs1557177623
|
|
NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs)
|
rs2148111417
|
|
NM_001110556.2(FLNA):c.4147del (p.Ala1383fs)
|
rs863223299
|
|
NM_001110556.2(FLNA):c.4281del (p.Tyr1428fs)
|
rs2148111202
|
|
NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs)
|
rs398123620
|
|
NM_001110556.2(FLNA):c.4450C>T (p.Gln1484Ter)
|
rs1057516198
|
|
NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter)
|
rs186214592
|
|
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)
|
rs781789823
|
|
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs)
|
rs1557177086
|
|
NM_001110556.2(FLNA):c.5084_5085del (p.Glu1695fs)
|
|
|
NM_001110556.2(FLNA):c.5146del (p.Gln1716fs)
|
rs1557176615
|
|
NM_001110556.2(FLNA):c.5160C>G (p.Tyr1720Ter)
|
|
|
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)
|
rs387907371
|
|
NM_001110556.2(FLNA):c.5363_5369del (p.Leu1788fs)
|
|
|
NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter)
|
rs137853310
|
|
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs)
|
rs1569551502
|
|
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)
|
rs1359141531
|
|
NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter)
|
rs2148119354
|
|
NM_001110556.2(FLNA):c.5796del (p.Asp1931_Tyr1932insTer)
|
rs2067639563
|
|
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)
|
rs137853317
|
|
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs)
|
rs1603359464
|
|
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs)
|
rs1060500718
|
|
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)
|
rs28935469
|
|
NM_001110556.2(FLNA):c.623-3C>G
|
rs398123622
|
|
NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter)
|
rs2148104651
|
|
NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs)
|
rs2148104615
|
|
NM_001110556.2(FLNA):c.6355_6356del (p.Lys2119fs)
|
rs786205201
|
|
NM_001110556.2(FLNA):c.6395_6396del (p.Val2132fs)
|
|
|
NM_001110556.2(FLNA):c.6496del (p.Ile2166fs)
|
|
|
NM_001110556.2(FLNA):c.656del (p.Ser219fs)
|
rs2148119182
|
|
NM_001110556.2(FLNA):c.6586del (p.His2196fs)
|
rs2067626336
|
|
NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs)
|
rs786205178
|
|
NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs)
|
rs2148103917
|
|
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter)
|
rs1060500717
|
|
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter)
|
rs1569551861
|
|
NM_001110556.2(FLNA):c.6770_6774del (p.Ala2257fs)
|
|
|
NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter)
|
rs2148103458
|
|
NM_001110556.2(FLNA):c.6915C>G (p.Tyr2305Ter)
|
rs781910090
|
|
NM_001110556.2(FLNA):c.7005_7008del (p.Thr2336fs)
|
rs2148103004
|
|
NM_001110556.2(FLNA):c.7021C>T (p.Gln2341Ter)
|
rs1603358919
|
|
NM_001110556.2(FLNA):c.720+2T>C
|
rs863223295
|
|
NM_001110556.2(FLNA):c.7202del (p.Leu2401fs)
|
|
|
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter)
|
rs782308324
|
|
NM_001110556.2(FLNA):c.7285_7286dup (p.Gly2430fs)
|
rs2148101228
|
|
NM_001110556.2(FLNA):c.7363_7364insCGTGAACACCA (p.Ser2455delinsThrTer)
|
|
|
NM_001110556.2(FLNA):c.7545dup (p.Val2516fs)
|
|
|
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys)
|
rs28935470
|
|
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs)
|
rs2067602034
|
|
NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter)
|
|
|
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs)
|
rs1557175195
|
|
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)
|
rs1603358246
|
|
NM_001110556.2(FLNA):c.7880_7883dup (p.Val2629fs)
|
|
|
NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter)
|
rs398122812
|
|
NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?)
|
rs863223636
|
|
NM_001110556.2(FLNA):c.812del (p.Pro271fs)
|
rs2148118964
|
|
NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer)
|
rs2148118942
|
|
NM_001110556.2(FLNA):c.82A>G (p.Met28Val)
|
rs1557180226
|
|
NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys)
|
rs1557179536
|
|
NM_001110556.2(FLNA):c.917_918del (p.Val306fs)
|
|
|
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer)
|
rs1557179357
|
|
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs)
|
rs1557135315
|
|
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)
|
rs267608329
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)
|
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)
|
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter)
|
rs183261547
|
|
NM_001122769.3(LCA5):c.1062C>G (p.Tyr354Ter)
|
rs183261547
|
|
NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer)
|
rs1769845495
|
|
NM_001122769.3(LCA5):c.1151del (p.Pro384fs)
|
rs386834252
|
|
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter)
|
rs765473119
|
|
NM_001122769.3(LCA5):c.1186G>T (p.Glu396Ter)
|
rs1769761816
|
|
NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter)
|
rs1268307330
|
|
NM_001122769.3(LCA5):c.1368dup (p.Glu457fs)
|
rs2127666004
|
|
NM_001122769.3(LCA5):c.1466del (p.Leu489fs)
|
rs1240302846
|
|
NM_001122769.3(LCA5):c.1476dup (p.Pro493fs)
|
rs386834253
|
|
NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter)
|
rs1769706250
|
|
NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter)
|
rs766143193
|
|
NM_001122769.3(LCA5):c.1819_1820del (p.Gln607fs)
|
|
|
NM_001122769.3(LCA5):c.346C>T (p.Gln116Ter)
|
|
|
NM_001122769.3(LCA5):c.42_45del (p.Lys15fs)
|
|
|
NM_001122769.3(LCA5):c.527_529del (p.Arg176del)
|
rs1766311895
|
|
NM_001122769.3(LCA5):c.535_536insT (p.Gln179fs)
|
rs1766311263
|
|
NM_001122769.3(LCA5):c.574dup (p.Thr192fs)
|
rs1057519136
|
|
NM_001122769.3(LCA5):c.610C>T (p.Gln204Ter)
|
rs1766298401
|
|
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs)
|
rs1769904494
|
|
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)
|
rs866395428
|
|
NM_001122769.3(LCA5):c.858+1G>C
|
rs753594556
|
|
NM_001122769.3(LCA5):c.93del (p.Gln31fs)
|
rs1766528592
|
|
NM_001127178.3(PIGG):c.1106_1107del (p.Ser368_Tyr369insTer)
|
rs1560313832
|
|
NM_001127178.3(PIGG):c.1163G>A (p.Trp388Ter)
|
rs1560330387
|
|
NM_001127178.3(PIGG):c.1173_1174del (p.Tyr392fs)
|
rs2108940028
|
|
NM_001127178.3(PIGG):c.1193C>G (p.Ser398Ter)
|
|
|
NM_001127178.3(PIGG):c.1231C>T (p.Gln411Ter)
|
rs780498908
|
|
NM_001127178.3(PIGG):c.1285dup (p.Gln429fs)
|
|
|
NM_001127178.3(PIGG):c.1489dup (p.Ser497fs)
|
rs1577094794
|
|
NM_001127178.3(PIGG):c.1544_1545del (p.Ala515fs)
|
rs2108949204
|
|
NM_001127178.3(PIGG):c.1562_1563del (p.Val521fs)
|
|
|
NM_001127178.3(PIGG):c.1641G>A (p.Trp547Ter)
|
|
|
NM_001127178.3(PIGG):c.1702dup (p.Ser568fs)
|
|
|
NM_001127178.3(PIGG):c.1733_1734del (p.Trp578fs)
|
rs2108966214
|
|
NM_001127178.3(PIGG):c.1736_1758del (p.Tyr579fs)
|
|
|
NM_001127178.3(PIGG):c.1740_1743del (p.Phe580fs)
|
rs1726676630
|
|
NM_001127178.3(PIGG):c.1811_1812del (p.Glu604fs)
|
|
|
NM_001127178.3(PIGG):c.1824_1834del (p.Leu609fs)
|
|
|
NM_001127178.3(PIGG):c.1897C>T (p.Arg633Ter)
|
|
|
NM_001127178.3(PIGG):c.1923dup (p.Thr642fs)
|
rs2108968160
|
|
NM_001127178.3(PIGG):c.1956G>A (p.Trp652Ter)
|
|
|
NM_001127178.3(PIGG):c.2088G>C (p.Glu696Asp)
|
rs1203666288
|
|
NM_001127178.3(PIGG):c.2129_2130del (p.Val710fs)
|
|
|
NM_001127178.3(PIGG):c.2209del (p.Ala737fs)
|
rs2108995799
|
|
NM_001127178.3(PIGG):c.2244dup (p.Ser749fs)
|
|
|
NM_001127178.3(PIGG):c.2261+1G>C
|
rs869320773
|
|
NM_001127178.3(PIGG):c.2288_2289del (p.Tyr763fs)
|
rs1728769445
|
|
NM_001127178.3(PIGG):c.2294_2295del (p.Phe765fs)
|
|
|
NM_001127178.3(PIGG):c.2330T>G (p.Leu777Ter)
|
|
|
NM_001127178.3(PIGG):c.2332del (p.Lys779fs)
|
|
|
NM_001127178.3(PIGG):c.2334del (p.Lys779fs)
|
|
|
NM_001127178.3(PIGG):c.2444del (p.Pro815fs)
|
|
|
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer)
|
rs771819481
|
|
NM_001127178.3(PIGG):c.2760del (p.Phe921fs)
|
|
|
NM_001127178.3(PIGG):c.2872G>T (p.Glu958Ter)
|
rs775379047
|
|
NM_001127178.3(PIGG):c.309_310del (p.His103fs)
|
rs1553875180
|
|
NM_001127178.3(PIGG):c.342dup (p.Thr115fs)
|
rs886041687
|
|
NM_001127178.3(PIGG):c.366_381del (p.Leu122fs)
|
rs1719440437
|
|
NM_001127178.3(PIGG):c.570+1G>A
|
rs1719513784
|
|
NM_001127178.3(PIGG):c.623G>A (p.Trp208Ter)
|
rs1720118439
|
|
NM_001127178.3(PIGG):c.640C>T (p.His214Tyr)
|
rs2108801356
|
|
NM_001127178.3(PIGG):c.766G>T (p.Glu256Ter)
|
|
|
NM_001127178.3(PIGG):c.768_769del (p.Glu256fs)
|
|
|
NM_001127178.3(PIGG):c.768_769dup (p.Thr257fs)
|
rs1229339759
|
|
NM_001127178.3(PIGG):c.785del (p.Leu262fs)
|
rs2108814954
|
|
NM_001127178.3(PIGG):c.801del (p.Asp268fs)
|
|
|
NM_001127178.3(PIGG):c.901+1del
|
rs782318668
|
|
NM_001127178.3(PIGG):c.931C>T (p.Gln311Ter)
|
|
|
NM_001130103.1(COL13A1):c.523-1delG
|
rs864309663
|
|
NM_001134831.2(AHI1):c.1912+5G>T
|
rs1554347012
|
|
NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn)
|
rs864309659
|
|
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs)
|
rs2149060093
|
|
NM_001144967.3(NEDD4L):c.2036A>G (p.Tyr679Cys)
|
|
|
NM_001144967.3(NEDD4L):c.2082G>T (p.Gln694His)
|
|
|
NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys)
|
|
|
NM_001144967.3(NEDD4L):c.2690G>A (p.Arg897Gln)
|
|
|
NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln)
|
rs2059194330
|
|
NM_001145313.3(FSD1L):c.1411C>T (p.Gln471Ter)
|
|
|
NM_001145357.1(SIN3A):c.1010_1013del
|
rs879255619
|
|
NM_001145358.2(SIN3A):c.1015C>T (p.Gln339Ter)
|
rs2141487525
|
|
NM_001145358.2(SIN3A):c.1229del (p.Lys410fs)
|
rs2073599549
|
|
NM_001145358.2(SIN3A):c.1411C>T (p.Arg471Ter)
|
|
|
NM_001145358.2(SIN3A):c.1657C>T (p.Arg553Ter)
|
rs1555444885
|
|
NM_001145358.2(SIN3A):c.172_173del (p.Val58fs)
|
|
|
NM_001145358.2(SIN3A):c.1759del (p.Ser587fs)
|
rs879255620
|
|
NM_001145358.2(SIN3A):c.2258_2259dup (p.Glu754fs)
|
rs2073271481
|
|
NM_001145358.2(SIN3A):c.2506G>T (p.Glu836Ter)
|
|
|
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter)
|
rs2141424841
|
|
NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs)
|
rs886037847
|
|
NM_001145358.2(SIN3A):c.3118_3119del (p.Gln1040fs)
|
rs1135401768
|
|
NM_001145358.2(SIN3A):c.3310C>T (p.Arg1104Ter)
|
rs879255621
|
|
NM_001145358.2(SIN3A):c.3384dup
|
|
|
NM_001145358.2(SIN3A):c.349C>T (p.Gln117Ter)
|
rs2141540759
|
|
NM_001145358.2(SIN3A):c.803dup (p.Leu269fs)
|
rs879255618
|
|
NM_001145358.2(SIN3A):c.848dup (p.His283fs)
|
rs1567368243
|
|
NM_001163435.3(TBCK):c.1370del (p.Asn457fs)
|
rs746860249
|
|
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs)
|
rs746860249
|
|
NM_001163435.3(TBCK):c.1532G>A (p.Arg511His)
|
rs869320711
|
|
NM_001163435.3(TBCK):c.1771C>T (p.Gln591Ter)
|
rs1057518332
|
|
NM_001163435.3(TBCK):c.1860+1G>A
|
rs1303851095
|
|
NM_001163435.3(TBCK):c.1878G>T (p.Trp626Cys)
|
rs1579198447
|
|
NM_001163435.3(TBCK):c.1880T>G (p.Phe627Cys)
|
rs1579198426
|
|
NM_001163435.3(TBCK):c.193+1G>T
|
rs1767828321
|
|
NM_001163435.3(TBCK):c.2060-6793_2235+427del
|
|
|
NM_001163435.3(TBCK):c.2060_2235+1del
|
rs1560755661
|
|
NM_001163435.3(TBCK):c.2060_2235del (p.Glu687fs)
|
rs2149737591
|
|
NM_001163435.3(TBCK):c.2130C>G (p.Tyr710Ter)
|
rs1750962854
|
|
NM_001163435.3(TBCK):c.2143C>T (p.Gln715Ter)
|
rs1750958862
|
|
NM_001163435.3(TBCK):c.381+1G>A
|
rs1762560983
|
|
NM_001163435.3(TBCK):c.658+1G>A
|
rs1579395680
|
|
NM_001163435.3(TBCK):c.659-1G>A
|
rs1579391376
|
|
NM_001163435.3(TBCK):c.737_738del (p.Val246fs)
|
rs2150053706
|
|
NM_001163435.3(TBCK):c.753dup (p.Lys252Ter)
|
rs1131691329
|
|
NM_001163435.3(TBCK):c.803_806del (p.Met268fs)
|
rs771481304
|
|
NM_001163435.3(TBCK):c.831_832insTA (p.Pro278fs)
|
rs869320769
|
|
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)
|
rs770279237
|
|
NM_001163809.2(WDR81):c.3771T>G (p.Tyr1257Ter)
|
rs1484029774
|
|
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu)
|
rs730882206
|
|
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter)
|
rs1553679273
|
|
NM_001164507.2(NEB):c.21375del (p.Arg7126fs)
|
|
|
NM_001164507.2(NEB):c.21406C>T (p.Gln7136Ter)
|
rs2153521056
|
|
NM_001164508.2(NEB):c.10026_10027insTG (p.Lys3343Ter)
|
|
|
NM_001164508.2(NEB):c.1006_1018del (p.Asn336fs)
|
rs2099738446
|
|
NM_001164508.2(NEB):c.10152C>A (p.Tyr3384Ter)
|
|
|
NM_001164508.2(NEB):c.1019_1020insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGG (p.Val341fs)
|
|
|
NM_001164508.2(NEB):c.10411G>T (p.Glu3471Ter)
|
rs866949431
|
|
NM_001164508.2(NEB):c.10433dup (p.Asn3478fs)
|
|
|
NM_001164508.2(NEB):c.10441_10445del (p.Ile3480_Asn3481insTer)
|
|
|
NM_001164508.2(NEB):c.10465C>T (p.Gln3489Ter)
|
|
|
NM_001164508.2(NEB):c.10493del (p.Gly3498fs)
|
rs1574014358
|
|
NM_001164508.2(NEB):c.10497del (p.Gly3498_Tyr3499insTer)
|
rs2154027821
|
|
NM_001164508.2(NEB):c.10545_10552del (p.Asp3516fs)
|
|
|
NM_001164508.2(NEB):c.10598_10610del (p.His3533fs)
|
rs2154022757
|
|
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)
|
rs779909544
|
|
NM_001164508.2(NEB):c.10687A>T (p.Lys3563Ter)
|
rs1207279110
|
|
NM_001164508.2(NEB):c.1068_1096dup (p.Ala366fs)
|
|
|
NM_001164508.2(NEB):c.10798del (p.Leu3600fs)
|
|
|
NM_001164508.2(NEB):c.10809G>A (p.Trp3603Ter)
|
rs10172023
|
|
NM_001164508.2(NEB):c.1083T>A (p.Tyr361Ter)
|
rs2149872738
|
|
NM_001164508.2(NEB):c.10872+1G>A
|
rs1336053002
|
|
NM_001164508.2(NEB):c.10872+1del
|
|
|
NM_001164508.2(NEB):c.10872+2T>A
|
|
|
NM_001164508.2(NEB):c.10916G>A (p.Trp3639Ter)
|
|
|
NM_001164508.2(NEB):c.11010dup (p.Phe3671fs)
|
rs2098273867
|
|
NM_001164508.2(NEB):c.11024dup (p.Asp3676fs)
|
rs1560500587
|
|
NM_001164508.2(NEB):c.11031_11034del (p.Pro3678fs)
|
|
|
NM_001164508.2(NEB):c.11054dup (p.Asn3685fs)
|
rs1560499498
|
|
NM_001164508.2(NEB):c.1109dup (p.Gln371fs)
|
|
|
NM_001164508.2(NEB):c.1111C>T (p.Gln371Ter)
|
|
|
NM_001164508.2(NEB):c.11289delT (p.Tyr3764fs)
|
|
|
NM_001164508.2(NEB):c.11408del (p.Glu3803fs)
|
|
|
NM_001164508.2(NEB):c.11412C>G (p.Tyr3804Ter)
|
|
|
NM_001164508.2(NEB):c.11425G>T (p.Glu3809Ter)
|
rs2098126010
|
|
NM_001164508.2(NEB):c.11432G>A (p.Trp3811Ter)
|
|
|
NM_001164508.2(NEB):c.11473del (p.Val3825fs)
|
rs2153992255
|
|
NM_001164508.2(NEB):c.1152+1G>C
|
rs398124167
|
|
NM_001164508.2(NEB):c.1152+1G>T
|
rs398124167
|
|
NM_001164508.2(NEB):c.11533G>T (p.Glu3845Ter)
|
rs755390933
|
|
NM_001164508.2(NEB):c.1157del (p.Leu386fs)
|
rs2149368742
|
|
NM_001164508.2(NEB):c.11584_11587dup (p.Asp3863delinsValTer)
|
rs2153991555
|
|
NM_001164508.2(NEB):c.11585_11586delinsC (p.Tyr3862fs)
|
rs1553896522
|
|
NM_001164508.2(NEB):c.11610C>A (p.Tyr3870Ter)
|
rs2098013896
|
|
NM_001164508.2(NEB):c.11613del (p.Lys3871fs)
|
rs2098013713
|
|
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter)
|
rs1259297878
|
|
NM_001164508.2(NEB):c.11666del (p.Glu3889fs)
|
|
|
NM_001164508.2(NEB):c.11731C>T (p.Gln3911Ter)
|
|
|
NM_001164508.2(NEB):c.1173T>A (p.Tyr391Ter)
|
|
|
NM_001164508.2(NEB):c.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.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.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.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.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.24271_24274dup (p.Lys8092fs)
|
rs1559217202
|
|
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs)
|
rs1553551748
|
|
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
|
|
|
NM_001164508.2(NEB):c.24286del (p.Glu8096fs)
|
|
|
NM_001164508.2(NEB):c.2428C>T (p.Gln810Ter)
|
|
|
NM_001164508.2(NEB):c.24291_24294dup (p.Ser8099delinsTyrTer)
|
rs2061157682
|
|
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.24329_24332dup (p.Pro8112fs)
|
rs1574981296
|
|
NM_001164508.2(NEB):c.24335_24338dup (p.Pro8114fs)
|
|
|
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)
|
rs934111355
|
|
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
|
|
|
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)
|
rs752582527
|
|
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs)
|
rs1553548207
|
|
NM_001164508.2(NEB):c.24376C>T (p.Gln8126Ter)
|
|
|
NM_001164508.2(NEB):c.24376_24377insCC (p.Gln8126fs)
|
rs2152954992
|
|
NM_001164508.2(NEB):c.24397_24398dup (p.Leu8133fs)
|
rs1553545126
|
|
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)
|
rs763364977
|
|
NM_001164508.2(NEB):c.24461_24464dup (p.His8155fs)
|
rs2152937269
|
|
NM_001164508.2(NEB):c.24469C>T (p.Gln8157Ter)
|
|
|
NM_001164508.2(NEB):c.24503dup (p.Asn8168fs)
|
rs2152876577
|
|
NM_001164508.2(NEB):c.24510dup (p.Lys8171fs)
|
|
|
NM_001164508.2(NEB):c.24517_24518dup (p.Ala8174fs)
|
rs2152876293
|
|
NM_001164508.2(NEB):c.24546del (p.Arg8183fs)
|
|
|
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)
|
rs755863625
|
|
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)
|
rs1553537512
|
|
NM_001164508.2(NEB):c.24575dup (p.Ser8192fs)
|
rs2152874815
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.24615_24616insCA (p.Thr8206fs)
|
|
|
NM_001164508.2(NEB):c.24617del (p.Thr8206fs)
|
rs2152863770
|
|
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)
|
rs1357811155
|
|
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)
|
rs794727136
|
|
NM_001164508.2(NEB):c.24667dup (p.Ser8223fs)
|
|
|
NM_001164508.2(NEB):c.24672+1del
|
rs2152861881
|
|
NM_001164508.2(NEB):c.24683_24684del (p.Lys8228fs)
|
|
|
NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs)
|
rs761067911
|
|
NM_001164508.2(NEB):c.24710dup (p.Pro8238fs)
|
|
|
NM_001164508.2(NEB):c.24722_24723del (p.Pro8241fs)
|
|
|
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)
|
rs776059611
|
|
NM_001164508.2(NEB):c.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.3084C>G (p.Tyr1028Ter)
|
rs2099402392
|
|
NM_001164508.2(NEB):c.3096del (p.Asp1033fs)
|
|
|
NM_001164508.2(NEB):c.3255+1G>C
|
rs375628303
|
|
NM_001164508.2(NEB):c.3255+1G>T
|
rs375628303
|
|
NM_001164508.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer)
|
rs2099386637
|
|
NM_001164508.2(NEB):c.3270del (p.Asp1091fs)
|
rs2099386610
|
|
NM_001164508.2(NEB):c.3270dup (p.Asp1091fs)
|
|
|
NM_001164508.2(NEB):c.331C>T (p.Gln111Ter)
|
|
|
NM_001164508.2(NEB):c.3342T>A (p.Tyr1114Ter)
|
|
|
NM_001164508.2(NEB):c.3373G>T (p.Glu1125Ter)
|
|
|
NM_001164508.2(NEB):c.3384del (p.Asp1129fs)
|
rs2099386045
|
|
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)
|
|
|
NM_001164508.2(NEB):c.3394_3395insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGACTATGAGA (p.Lys1132delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysArgLeuTer)
|
|
|
NM_001164508.2(NEB):c.3400_3401del (p.Lys1134fs)
|
rs2148495720
|
|
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs)
|
rs1463906422
|
|
NM_001164508.2(NEB):c.3553C>T (p.Gln1185Ter)
|
|
|
NM_001164508.2(NEB):c.3562_3563del (p.Gln1187_Ser1188insTer)
|
rs2154210386
|
|
NM_001164508.2(NEB):c.3567+1G>A
|
rs587780399
|
|
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter)
|
rs748453057
|
|
NM_001164508.2(NEB):c.3648del (p.Lys1218fs)
|
|
|
NM_001164508.2(NEB):c.3649A>T (p.Lys1217Ter)
|
|
|
NM_001164508.2(NEB):c.3653del (p.Lys1218fs)
|
|
|
NM_001164508.2(NEB):c.3664del (p.Ala1222fs)
|
|
|
NM_001164508.2(NEB):c.3691del (p.His1231fs)
|
|
|
NM_001164508.2(NEB):c.3731del (p.Pro1244fs)
|
rs2154209597
|
|
NM_001164508.2(NEB):c.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.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.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_001164688.2(RD3):c.112C>T (p.Arg38Ter)
|
rs786205148
|
|
NM_001164688.2(RD3):c.136G>T (p.Glu46Ter)
|
rs786205150
|
|
NM_001164688.2(RD3):c.137_138del (p.Glu46fs)
|
rs786205149
|
|
NM_001164688.2(RD3):c.13_14del (p.Ser5fs)
|
rs761112550
|
|
NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter)
|
rs762631020
|
|
NM_001164688.2(RD3):c.238C>T (p.Gln80Ter)
|
|
|
NM_001164688.2(RD3):c.296+1G>A
|
rs386834260
|
|
NM_001164688.2(RD3):c.296+1G>T
|
rs386834260
|
|
NM_001164688.2(RD3):c.38del (p.Pro13fs)
|
|
|
NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs)
|
rs1559193213
|
|
NM_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg)
|
rs1570345942
|
|
NM_001171613.2(PREPL):c.-31_-28del
|
rs1553360075
|
|
NM_001171613.2(PREPL):c.-49+1778C>A
|
|
|
NM_001171613.2(PREPL):c.-49+1802T>A
|
rs2104270031
|
|
NM_001171613.2(PREPL):c.-49+1826dup
|
|
|
NM_001171613.2(PREPL):c.-49+1843_-49+1844del
|
|
|
NM_001171613.2(PREPL):c.1015_1018del (p.Phe339fs)
|
rs748639083
|
|
NM_001171613.2(PREPL):c.1250_1251del (p.Tyr417fs)
|
|
|
NM_001171613.2(PREPL):c.1261C>T (p.Arg421Ter)
|
rs779879227
|
|
NM_001171613.2(PREPL):c.1337T>G (p.Leu446Ter)
|
rs1553352792
|
|
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter)
|
rs1673549822
|
|
NM_001171613.2(PREPL):c.1521_1522dup (p.Leu508fs)
|
rs1355856142
|
|
NM_001171613.2(PREPL):c.167del (p.Leu56fs)
|
rs775517492
|
|
NM_001171613.2(PREPL):c.1729G>T (p.Glu577Ter)
|
rs983509465
|
|
NM_001171613.2(PREPL):c.196C>T (p.Gln66Ter)
|
rs2103986758
|
|
NM_001171613.2(PREPL):c.448_451del (p.Lys150fs)
|
rs779488471
|
|
NM_001171613.2(PREPL):c.540del (p.Ile180_Met181insTer)
|
rs1057523690
|
|
NM_001171613.2(PREPL):c.634del (p.Tyr212fs)
|
rs2103925424
|
|
NM_001171613.2(PREPL):c.71_72insCT (p.Glu25fs)
|
|
|
NM_001171613.2(PREPL):c.75del (p.Val26fs)
|
rs1675812434
|
|
NM_001171613.2(PREPL):c.94_97del (p.Val32fs)
|
rs1436090495
|
|
NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr)
|
rs121912588
|
|
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_001184785.2(PARD3):c.2339A>G (p.Asp780Gly)
|
rs1114167354
|
|
NM_001184785.2(PARD3):c.2729C>A (p.Pro910Gln)
|
rs781461462
|
|
NM_001195553.2(DCX):c.139A>C (p.Ser47Arg)
|
rs104894783
|
|
NM_001195553.2(DCX):c.176G>T (p.Arg59Leu)
|
rs122457137
|
|
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn)
|
rs104894779
|
|
NM_001195553.2(DCX):c.211G>A (p.Ala71Thr)
|
rs104894786
|
|
NM_001195553.2(DCX):c.211G>T (p.Ala71Ser)
|
rs104894786
|
|
NM_001195553.2(DCX):c.226C>G (p.Arg76Gly)
|
rs587783534
|
|
NM_001195553.2(DCX):c.226C>T (p.Arg76Cys)
|
rs587783534
|
|
NM_001195553.2(DCX):c.233G>A (p.Arg78His)
|
rs104894784
|
|
NM_001195553.2(DCX):c.233G>T (p.Arg78Leu)
|
rs104894784
|
|
NM_001195553.2(DCX):c.265C>G (p.Arg89Gly)
|
rs104894785
|
|
NM_001195553.2(DCX):c.266G>A (p.Arg89Gln)
|
rs61729440
|
|
NM_001195553.2(DCX):c.304C>A (p.Arg102Ser)
|
rs587783541
|
|
NM_001195553.2(DCX):c.34_35dup (p.Asp12fs)
|
rs1569498597
|
|
NM_001195553.2(DCX):c.355_356del (p.Leu119fs)
|
rs1556404991
|
|
NM_001195553.2(DCX):c.373T>C (p.Tyr125His)
|
rs104894781
|
|
NM_001195553.2(DCX):c.478dup (p.Gln160fs)
|
rs2147263208
|
|
NM_001195553.2(DCX):c.479_482dup (p.Leu162fs)
|
rs2147263186
|
|
NM_001195553.2(DCX):c.505C>T (p.Gln169Ter)
|
rs1064794223
|
|
NM_001195553.2(DCX):c.544G>T (p.Val182Phe)
|
rs1556401951
|
|
NM_001195553.2(DCX):c.574C>T (p.Arg192Trp)
|
rs104894780
|
|
NM_001195553.2(DCX):c.586C>T (p.Arg196Cys)
|
rs587783568
|
|
NM_001195553.2(DCX):c.602AGA[1] (p.Lys202del)
|
|
|
NM_001195553.2(DCX):c.608C>G (p.Thr203Arg)
|
rs104894782
|
|
NM_001195553.2(DCX):c.628del (p.Val210fs)
|
rs2147262801
|
|
NM_001195553.2(DCX):c.684_685del (p.Tyr229fs)
|
rs1556401744
|
|
NM_001195553.2(DCX):c.691_692del (p.Leu231fs)
|
rs1569497266
|
|
NM_001195553.2(DCX):c.705+1del
|
rs1556401725
|
|
NM_001195553.2(DCX):c.808+1G>A
|
rs1921403332
|
|
NM_001195553.2(DCX):c.814C>T (p.Arg272Ter)
|
rs587783590
|
|
NM_001195553.2(DCX):c.907C>T (p.Arg303Ter)
|
rs587783592
|
|
NM_001198533.2(OXR1):c.1100C>G (p.Ser367Ter)
|
rs1587174071
|
|
NM_001198533.2(OXR1):c.1324del (p.Ser442fs)
|
rs1587174948
|
|
NM_001198533.2(OXR1):c.2163+1G>T
|
rs1587302415
|
|
NM_001198533.2(OXR1):c.2317-1G>C
|
rs1333855063
|
|
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)
|
rs753324947
|
|
NM_001198800.3(ASCC1):c.349C>T (p.Arg117Ter)
|
rs746994660
|
|
NM_001198800.3(ASCC1):c.464_465del (p.Glu155fs)
|
|
|
NM_001198800.3(ASCC1):c.784C>T (p.Gln262Ter)
|
rs778054296
|
|
NM_001198800.3(ASCC1):c.943C>T (p.Arg315Ter)
|
rs1389098934
|
|
NM_001243766.2(POMGNT1):c.-50-671_-50-663dup
|
rs966546165
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.1096G>T (p.Asp366Tyr)
|
rs1574058076
|
|
NM_001244710.2(GFPT1):c.1290dup (p.Arg431fs)
|
rs2104617143
|
|
NM_001244710.2(GFPT1):c.1291C>T (p.Arg431Ter)
|
|
|
NM_001244710.2(GFPT1):c.1687C>T (p.Arg563Ter)
|
|
|
NM_001244710.2(GFPT1):c.1851T>G (p.Tyr617Ter)
|
|
|
NM_001244710.2(GFPT1):c.197_201del (p.Val66fs)
|
rs1558773839
|
|
NM_001244710.2(GFPT1):c.224dup (p.Gln76fs)
|
rs1671535986
|
|
NM_001244710.2(GFPT1):c.41G>T (p.Arg14Leu)
|
rs922548333
|
|
NM_001244710.2(GFPT1):c.43A>G (p.Thr15Ala)
|
rs387906638
|
|
NM_001244710.2(GFPT1):c.452C>A (p.Thr151Lys)
|
rs1558761046
|
|
NM_001244710.2(GFPT1):c.621del (p.Leu207_Leu208insTer)
|
rs1574066599
|
|
NM_001244710.2(GFPT1):c.686-1G>A
|
rs2104647624
|
|
NM_001244710.2(GFPT1):c.728_729del (p.Gln243fs)
|
|
|
NM_001244710.2(GFPT1):c.738_739del (p.Gly247fs)
|
rs1553390600
|
|
NM_001244710.2(GFPT1):c.741dup (p.Lys248fs)
|
|
|
NM_001244710.2(GFPT1):c.769_772del (p.Ser257fs)
|
rs2104639109
|
|
NM_001244710.2(GFPT1):c.89_90del (p.Leu30fs)
|
rs1671813157
|
|
NM_001244710.2(GFPT1):c.931C>T (p.Arg311Ter)
|
rs2104635880
|
|
NM_001244710.2(GFPT1):c.982C>T (p.Gln328Ter)
|
rs1558749457
|
|
NM_001252024.2(TRPM1):c.1089+3_1089+6del
|
rs772011426
|
|
NM_001252024.2(TRPM1):c.1305_1324del (p.Glu436fs)
|
|
|
NM_001252024.2(TRPM1):c.2013C>A (p.Tyr671Ter)
|
rs1195734631
|
|
NM_001252024.2(TRPM1):c.2711C>A (p.Ser904Ter)
|
rs786205113
|
|
NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter)
|
rs267607140
|
|
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs)
|
rs778390089
|
|
NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs)
|
rs2031777349
|
|
NM_001252024.2(TRPM1):c.482del (p.Gly161fs)
|
rs1226505973
|
|
NM_001252024.2(TRPM1):c.97C>T (p.Gln33Ter)
|
rs267607141
|
|
NM_001256182:c.7545delG
|
|
|
NM_001256789.3(CACNA1F):c.1044del (p.Trp349fs)
|
|
|
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp)
|
rs122456133
|
|
NM_001256789.3(CACNA1F):c.1723del (p.Ser575fs)
|
rs2065808928
|
|
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter)
|
rs122456135
|
|
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter)
|
rs122456134
|
|
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)
|
rs80359870
|
|
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter)
|
rs2065717735
|
|
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)
|
rs1602630650
|
|
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter)
|
rs782581701
|
|
NM_001256789.3(CACNA1F):c.4548del (p.Phe1517fs)
|
rs2147895629
|
|
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)
|
rs1057518829
|
|
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.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.106137dup (p.Lys35380Ter)
|
rs886044460
|
|
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.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.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.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.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.38442dup (p.Pro12815fs)
|
rs752101551
|
|
NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs)
|
rs1553775212
|
|
NM_001267550.2(TTN):c.39109G>T (p.Glu13037Ter)
|
|
|
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.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.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.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.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.59926+1G>A
|
rs553526525
|
|
NM_001267550.2(TTN):c.59926+1G>C
|
|
|
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter)
|
rs1553644307
|
|
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter)
|
rs2050116026
|
|
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter)
|
rs869312112
|
|
NM_001267550.2(TTN):c.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.7501C>T (p.Arg2501Ter)
|
rs781459488
|
|
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs)
|
rs794729340
|
|
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.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.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.84819G>A (p.Trp28273Ter)
|
rs72648222
|
|
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs)
|
rs869312100
|
|
NM_001267550.2(TTN):c.85011_85014del (p.Glu28338fs)
|
rs2154159327
|
|
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)
|
rs748689777
|
|
NM_001267550.2(TTN):c.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.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.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_001272071.2(AP1S2):c.-1+1G>A
|
rs1934288587
|
|
NM_001272071.2(AP1S2):c.1-2A>G
|
rs1934209113
|
|
NM_001272071.2(AP1S2):c.1-3C>A
|
rs1060499672
|
|
NM_001272071.2(AP1S2):c.106C>T (p.Gln36Ter)
|
rs104894739
|
|
NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter)
|
rs104894735
|
|
NM_001272071.2(AP1S2):c.180-5_180-2del
|
rs587776738
|
|
NM_001272071.2(AP1S2):c.226G>T (p.Glu76Ter)
|
rs137852213
|
|
NM_001272071.2(AP1S2):c.281del (p.Phe94fs)
|
rs1555904182
|
|
NM_001272071.2(AP1S2):c.288+1G>A
|
|
|
NM_001272071.2(AP1S2):c.288+5G>A
|
rs587776739
|
|
NM_001272071.2(AP1S2):c.426+1G>T
|
rs587777542
|
|
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)
|
rs137852524
|
|
NM_001278116.2(L1CAM):c.1268-1G>A
|
rs1603275538
|
|
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg)
|
rs137852520
|
|
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter)
|
rs1064793163
|
|
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter)
|
rs886039407
|
|
NM_001278116.2(L1CAM):c.1703+5G>A
|
|
|
NM_001278116.2(L1CAM):c.1939+5G>A
|
rs879253716
|
|
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)
|
rs797045673
|
|
NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter)
|
|
|
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter)
|
rs875989884
|
|
NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs)
|
rs879253715
|
|
NM_001278116.2(L1CAM):c.2432-19A>C
|
rs879253713
|
|
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs)
|
rs1603274424
|
|
NM_001278116.2(L1CAM):c.3046+1G>A
|
rs1557090220
|
|
NM_001278116.2(L1CAM):c.3458-1G>C
|
rs879253724
|
|
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)
|
rs137852522
|
|
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln)
|
rs137852521
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr)
|
rs137852518
|
|
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=)
|
rs797044787
|
|
NM_001282531.3(ADNP):c.-5-1G>C
|
rs1064796656
|
|
NM_001282531.3(ADNP):c.1033C>T (p.Gln345Ter)
|
rs1981068436
|
|
NM_001282531.3(ADNP):c.1191dup (p.Asn398Ter)
|
|
|
NM_001282531.3(ADNP):c.1211C>A (p.Ser404Ter)
|
rs587777524
|
|
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs)
|
rs1555810376
|
|
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter)
|
rs1555810308
|
|
NM_001282531.3(ADNP):c.177_178dup (p.Asp60fs)
|
|
|
NM_001282531.3(ADNP):c.190dup (p.Thr64fs)
|
rs886041741
|
|
NM_001282531.3(ADNP):c.1936_1937del (p.Arg646fs)
|
|
|
NM_001282531.3(ADNP):c.2155del (p.Tyr719fs)
|
rs2122746625
|
|
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)
|
rs1135401808
|
|
NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter)
|
rs587777526
|
|
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter)
|
rs587777526
|
|
NM_001282531.3(ADNP):c.2157_2159del (p.Tyr719_Glu720delinsTer)
|
rs1600930118
|
|
NM_001282531.3(ADNP):c.2167del (p.Glu723fs)
|
rs2122746230
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001282531.3(ADNP):c.2194_2197del (p.Leu732fs)
|
rs1555809984
|
|
NM_001282531.3(ADNP):c.2212dup (p.Ser738fs)
|
|
|
NM_001282531.3(ADNP):c.2213C>A (p.Ser738Ter)
|
rs779340209
|
|
NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter)
|
rs779340209
|
|
NM_001282531.3(ADNP):c.2292T>G (p.Tyr764Ter)
|
|
|
NM_001282531.3(ADNP):c.2318dup (p.Tyr774fs)
|
rs1057518978
|
|
NM_001282531.3(ADNP):c.2387G>A (p.Trp796Ter)
|
rs2122743549
|
|
NM_001282531.3(ADNP):c.2424_2427del (p.Lys809fs)
|
rs2122743279
|
|
NM_001282531.3(ADNP):c.2454C>G (p.Tyr818Ter)
|
rs2122743080
|
|
NM_001282531.3(ADNP):c.2483dup (p.Met828fs)
|
|
|
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs)
|
rs587777522
|
|
NM_001282531.3(ADNP):c.2495_2499del (p.Asn832fs)
|
rs2122742586
|
|
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)
|
rs587777523
|
|
NM_001282531.3(ADNP):c.2808del (p.Lys935_Tyr936insTer)
|
rs587777525
|
|
NM_001282531.3(ADNP):c.280C>T (p.Arg94Cys)
|
rs1186714720
|
|
NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs)
|
rs1980777288
|
|
NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter)
|
rs1981147033
|
|
NM_001282531.3(ADNP):c.517C>T (p.Arg173Ter)
|
rs1135401791
|
|
NM_001282531.3(ADNP):c.539_542del (p.Val180fs)
|
rs1057518345
|
|
NM_001282531.3(ADNP):c.642_651del (p.Asn214fs)
|
rs1981125064
|
|
NM_001282531.3(ADNP):c.655_656del (p.Glu218_Ser219insTer)
|
rs2122761731
|
|
NM_001282531.3(ADNP):c.733G>T (p.Glu245Ter)
|
|
|
NM_001282531.3(ADNP):c.819del (p.Lys274fs)
|
rs886041498
|
|
NM_001282531.3(ADNP):c.898dup (p.Ser300fs)
|
rs2122759209
|
|
NM_001282531.3(ADNP):c.940_941del (p.Leu314fs)
|
rs1981083173
|
|
NM_001282531.3(ADNP):c.95_96insT (p.Lys32fs)
|
rs2122840340
|
|
NM_001285403.4(AIPL1):c.466-24_466-21del
|
|
|
NM_001286535.2(RAD9B):c.960del (p.Ala321fs)
|
rs778121031
|
|
NM_001289052.2(PIGG):c.361-1424del
|
rs1553880098
|
|
NM_001312673.2(PCYT1A):c.471C>G (p.Phe157Leu)
|
rs1577358031
|
|
NM_001321932.1(FGF14):c.4+1G>A
|
|
|
NM_001347721.2(DYRK1A):c.1015G>A (p.Gly339Arg)
|
rs2053152079
|
|
NM_001347721.2(DYRK1A):c.1025del (p.Leu342fs)
|
rs1064794894
|
|
NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter)
|
rs1555985742
|
|
NM_001347721.2(DYRK1A):c.1071+1G>A
|
rs587776930
|
|
NM_001347721.2(DYRK1A):c.1072-2A>C
|
|
|
NM_001347721.2(DYRK1A):c.1074_1077del (p.Asp359fs)
|
rs797044522
|
|
NM_001347721.2(DYRK1A):c.1114_1133del (p.Pro372fs)
|
|
|
NM_001347721.2(DYRK1A):c.1132C>T (p.Gln378Ter)
|
rs1555987107
|
|
NM_001347721.2(DYRK1A):c.1135_1141del (p.Ala379fs)
|
|
|
NM_001347721.2(DYRK1A):c.1135dup (p.Ala379fs)
|
rs797045042
|
|
NM_001347721.2(DYRK1A):c.1158dup (p.Glu387Ter)
|
rs2148627691
|
|
NM_001347721.2(DYRK1A):c.1190_1193del (p.Lys397fs)
|
rs2148627802
|
|
NM_001347721.2(DYRK1A):c.1191_1192insTT (p.Lys398fs)
|
|
|
NM_001347721.2(DYRK1A):c.1213-2A>G
|
rs1601315812
|
|
NM_001347721.2(DYRK1A):c.1213-3C>G
|
|
|
NM_001347721.2(DYRK1A):c.1259_1260dup (p.Glu421fs)
|
|
|
NM_001347721.2(DYRK1A):c.1271_1272insT (p.Pro425fs)
|
rs797045539
|
|
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)
|
rs724159953
|
|
NM_001347721.2(DYRK1A):c.1289del (p.Ala430fs)
|
rs2053564046
|
|
NM_001347721.2(DYRK1A):c.1336del (p.Leu446fs)
|
|
|
NM_001347721.2(DYRK1A):c.1354_1357del (p.Asp452fs)
|
rs2053566124
|
|
NM_001347721.2(DYRK1A):c.1357_1358insTC (p.Tyr453fs)
|
rs2053566582
|
|
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter)
|
rs797044520
|
|
NM_001347721.2(DYRK1A):c.1378C>T (p.Gln460Ter)
|
rs1555990955
|
|
NM_001347721.2(DYRK1A):c.143_144del (p.Ile48fs)
|
rs587776929
|
|
NM_001347721.2(DYRK1A):c.1464del (p.Ala489fs)
|
rs1057519628
|
|
NM_001347721.2(DYRK1A):c.1476del (p.Gln492fs)
|
|
|
NM_001347721.2(DYRK1A):c.1526C>G (p.Ser509Ter)
|
|
|
NM_001347721.2(DYRK1A):c.1583del (p.His528fs)
|
rs1601319086
|
|
NM_001347721.2(DYRK1A):c.1587_1588dup (p.Gly530fs)
|
|
|
NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter)
|
rs869312708
|
|
NM_001347721.2(DYRK1A):c.1635_1636del (p.His545fs)
|
rs1601319352
|
|
NM_001347721.2(DYRK1A):c.1699C>T (p.Gln567Ter)
|
rs1555994573
|
|
NM_001347721.2(DYRK1A):c.1753C>T (p.Gln585Ter)
|
|
|
NM_001347721.2(DYRK1A):c.187C>T (p.Gln63Ter)
|
rs373178770
|
|
NM_001347721.2(DYRK1A):c.1943_1960delinsTC (p.Ser648fs)
|
|
|
NM_001347721.2(DYRK1A):c.197dup (p.Thr67fs)
|
|
|
NM_001347721.2(DYRK1A):c.2014del (p.Gln672fs)
|
|
|
NM_001347721.2(DYRK1A):c.201_204del (p.Asn68fs)
|
rs1569355102
|
|
NM_001347721.2(DYRK1A):c.205C>T (p.Gln69Ter)
|
rs1555977171
|
|
NM_001347721.2(DYRK1A):c.210dup (p.Arg71fs)
|
rs2148571400
|
|
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs)
|
rs1064793546
|
|
NM_001347721.2(DYRK1A):c.267_268dup (p.Asp90fs)
|
rs2148571670
|
|
NM_001347721.2(DYRK1A):c.270_274del (p.Leu91fs)
|
rs1057519402
|
|
NM_001347721.2(DYRK1A):c.284dup (p.Tyr95Ter)
|
rs1555979158
|
|
NM_001347721.2(DYRK1A):c.285C>A (p.Tyr95Ter)
|
rs797044519
|
|
NM_001347721.2(DYRK1A):c.285C>G (p.Tyr95Ter)
|
rs797044519
|
|
NM_001347721.2(DYRK1A):c.286A>T (p.Lys96Ter)
|
|
|
NM_001347721.2(DYRK1A):c.293_294dup (p.Asn99fs)
|
rs2148571757
|
|
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter)
|
rs1057518204
|
|
NM_001347721.2(DYRK1A):c.331C>T (p.Gln111Ter)
|
rs1555980223
|
|
NM_001347721.2(DYRK1A):c.334C>T (p.Gln112Ter)
|
rs1555980234
|
|
NM_001347721.2(DYRK1A):c.367G>T (p.Glu123Ter)
|
|
|
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs)
|
rs797044523
|
|
NM_001347721.2(DYRK1A):c.433_439del (p.Lys145fs)
|
rs2148582438
|
|
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs)
|
rs797044521
|
|
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter)
|
rs1057516030
|
|
NM_001347721.2(DYRK1A):c.450C>G (p.Tyr150Ter)
|
rs1049773
|
|
NM_001347721.2(DYRK1A):c.484G>A (p.Gly162Arg)
|
rs1555980467
|
|
NM_001347721.2(DYRK1A):c.489+2T>C
|
rs2052613493
|
|
NM_001347721.2(DYRK1A):c.490-3T>G
|
|
|
NM_001347721.2(DYRK1A):c.507dup (p.Arg170fs)
|
rs1569370887
|
|
NM_001347721.2(DYRK1A):c.542_545del (p.Ile181fs)
|
rs1555982601
|
|
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)
|
rs1064796367
|
|
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)
|
rs724159949
|
|
NM_001347721.2(DYRK1A):c.618_619dup (p.Glu207fs)
|
|
|
NM_001347721.2(DYRK1A):c.625A>T (p.Lys209Ter)
|
|
|
NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter)
|
rs746177928
|
|
NM_001347721.2(DYRK1A):c.637+2T>C
|
rs1569371303
|
|
NM_001347721.2(DYRK1A):c.637+2dup
|
rs2148601107
|
|
NM_001347721.2(DYRK1A):c.638-1G>A
|
rs2148612254
|
|
NM_001347721.2(DYRK1A):c.638-9_638-5del
|
|
|
NM_001347721.2(DYRK1A):c.640dup (p.His214fs)
|
|
|
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs)
|
rs1555984102
|
|
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter)
|
rs780441716
|
|
NM_001347721.2(DYRK1A):c.675_676del (p.Cys226fs)
|
rs1601267617
|
|
NM_001347721.2(DYRK1A):c.687del (p.Phe229fs)
|
rs2053036372
|
|
NM_001347721.2(DYRK1A):c.701dup (p.Tyr234Ter)
|
|
|
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)
|
rs724159948
|
|
NM_001347721.2(DYRK1A):c.748_749del (p.Leu250fs)
|
rs2148612654
|
|
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter)
|
rs886041291
|
|
NM_001347721.2(DYRK1A):c.763A>T (p.Lys255Ter)
|
rs1555984237
|
|
NM_001347721.2(DYRK1A):c.772C>T (p.Gln258Ter)
|
rs1555984245
|
|
NM_001347721.2(DYRK1A):c.822dup (p.Ile275fs)
|
|
|
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg)
|
rs2148612918
|
|
NM_001347721.2(DYRK1A):c.833A>G (p.Asp278Gly)
|
rs1555984343
|
|
NM_001347721.2(DYRK1A):c.833A>T (p.Asp278Val)
|
rs1555984343
|
|
NM_001347721.2(DYRK1A):c.840dup (p.Pro281fs)
|
rs2148612955
|
|
NM_001347721.2(DYRK1A):c.848dup (p.Asn283fs)
|
|
|
NM_001347721.2(DYRK1A):c.905C>T (p.Ser302Phe)
|
rs1039571136
|
|
NM_001347721.2(DYRK1A):c.910C>T (p.Gln304Ter)
|
rs1555984433
|
|
NM_001347721.2(DYRK1A):c.924+4_924+7del
|
rs1555984461
|
|
NM_001347721.2(DYRK1A):c.925-11A>G
|
rs2148619358
|
|
NM_001347721.2(DYRK1A):c.930C>A (p.Tyr310Ter)
|
|
|
NM_001347721.2(DYRK1A):c.930C>G (p.Tyr310Ter)
|
|
|
NM_001347721.2(DYRK1A):c.931C>T (p.Gln311Ter)
|
rs1555985524
|
|
NM_001347721.2(DYRK1A):c.940C>T (p.Gln314Ter)
|
rs1555985532
|
|
NM_001347721.2(DYRK1A):c.980_981insCCCA (p.Met327fs)
|
rs2053150009
|
|
NM_001347721.2(DYRK1A):c.985dup (p.Tyr329fs)
|
|
|
NM_001347721.2(DYRK1A):c.986dup (p.Tyr329Ter)
|
|
|
NM_001347721.2(DYRK1A):c.987T>G (p.Tyr329Ter)
|
rs886041658
|
|
NM_001365999.1(SZT2):c.1496G>T (p.Ser499Ile)
|
rs886041034
|
|
NM_001365999.1(SZT2):c.2092C>T (p.Gln698Ter)
|
rs397515490
|
|
NM_001365999.1(SZT2):c.3668dup (p.Ala1224fs)
|
rs1653321651
|
|
NM_001365999.1(SZT2):c.3871_3887del (p.Asn1291fs)
|
rs1653397925
|
|
NM_001365999.1(SZT2):c.4396C>T (p.Arg1466Ter)
|
rs766090540
|
|
NM_001365999.1(SZT2):c.5653del (p.Gly1886fs)
|
rs1654084368
|
|
NM_001365999.1(SZT2):c.73C>T (p.Arg25Ter)
|
rs397515489
|
|
NM_001365999.1(SZT2):c.7613G>A (p.Cys2538Tyr)
|
rs1553153691
|
|
NM_001365999.1(SZT2):c.7735C>T (p.Gln2579Ter)
|
rs2153935815
|
|
NM_001365999.1(SZT2):c.7996T>G (p.Trp2666Gly)
|
rs1655170724
|
|
NM_001365999.1(SZT2):c.8333C>G (p.Ser2778Cys)
|
rs1276523236
|
|
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs)
|
rs745420974
|
|
NM_001365999.1(SZT2):c.9040C>T (p.Arg3014Ter)
|
|
|
NM_001367561.1(DOCK7):c.1083del (p.Tyr362fs)
|
|
|
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter)
|
rs1057520100
|
|
NM_001367561.1(DOCK7):c.1290del (p.Ser432fs)
|
|
|
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter)
|
rs758111714
|
|
NM_001367561.1(DOCK7):c.1725del (p.Arg576fs)
|
rs2149499164
|
|
NM_001367561.1(DOCK7):c.191_195delinsA (p.Leu64fs)
|
rs1557864817
|
|
NM_001367561.1(DOCK7):c.2106_2107dup (p.Pro703fs)
|
rs2149480897
|
|
NM_001367561.1(DOCK7):c.2112+2T>C
|
rs2149480893
|
|
NM_001367561.1(DOCK7):c.2278C>T (p.Arg760Ter)
|
|
|
NM_001367561.1(DOCK7):c.2359C>T (p.Arg787Ter)
|
|
|
NM_001367561.1(DOCK7):c.2479C>T (p.Arg827Ter)
|
|
|
NM_001367561.1(DOCK7):c.2510del (p.Asp837fs)
|
rs886037665
|
|
NM_001367561.1(DOCK7):c.2615del (p.Gly872fs)
|
|
|
NM_001367561.1(DOCK7):c.2683C>T (p.Arg895Ter)
|
rs1450310137
|
|
NM_001367561.1(DOCK7):c.2869C>T (p.Arg957Ter)
|
|
|
NM_001367561.1(DOCK7):c.3132_3133del (p.Ile1045fs)
|
rs2149393749
|
|
NM_001367561.1(DOCK7):c.3159del (p.Ser1054fs)
|
|
|
NM_001367561.1(DOCK7):c.3247_3248insGGACAGATGT (p.Ser1083fs)
|
|
|
NM_001367561.1(DOCK7):c.3408dup (p.Pro1137fs)
|
|
|
NM_001367561.1(DOCK7):c.3709C>T (p.Arg1237Ter)
|
rs587777484
|
|
NM_001367561.1(DOCK7):c.3937-686_4597del
|
|
|
NM_001367561.1(DOCK7):c.3976C>T (p.Arg1326Ter)
|
rs756535975
|
|
NM_001367561.1(DOCK7):c.4128del (p.Val1377fs)
|
rs2149340429
|
|
NM_001367561.1(DOCK7):c.4138C>T (p.Arg1380Ter)
|
rs1479675678
|
|
NM_001367561.1(DOCK7):c.4141dup (p.Met1381fs)
|
|
|
NM_001367561.1(DOCK7):c.4237C>T (p.Arg1413Ter)
|
rs1223056056
|
|
NM_001367561.1(DOCK7):c.4243C>T (p.Arg1415Ter)
|
|
|
NM_001367561.1(DOCK7):c.443_446del (p.Glu148fs)
|
rs1438270423
|
|
NM_001367561.1(DOCK7):c.453dup (p.Gly152fs)
|
|
|
NM_001367561.1(DOCK7):c.4675C>T (p.Arg1559Ter)
|
|
|
NM_001367561.1(DOCK7):c.4682_4683del (p.His1560_Cys1561insTer)
|
rs2149320961
|
|
NM_001367561.1(DOCK7):c.4783del (p.Met1595fs)
|
rs1553156203
|
|
NM_001367561.1(DOCK7):c.5059C>T (p.Arg1687Ter)
|
rs2149298999
|
|
NM_001367561.1(DOCK7):c.5306_5310del (p.Tyr1768_Phe1769insTer)
|
|
|
NM_001367561.1(DOCK7):c.5338C>T (p.Gln1780Ter)
|
|
|
NM_001367561.1(DOCK7):c.5381_5382dup (p.Asn1795fs)
|
rs1305460528
|
|
NM_001367561.1(DOCK7):c.5509-7_5509-6insA
|
|
|
NM_001367561.1(DOCK7):c.556dup (p.Thr186fs)
|
rs2149679279
|
|
NM_001367561.1(DOCK7):c.5619dup (p.Ser1874fs)
|
|
|
NM_001367561.1(DOCK7):c.5830_5834dup (p.Pro1946fs)
|
rs2149259725
|
|
NM_001367561.1(DOCK7):c.6101dup (p.Asn2034fs)
|
|
|
NM_001367561.1(DOCK7):c.6184C>T (p.Arg2062Ter)
|
|
|
NM_001367561.1(DOCK7):c.783del (p.Phe261fs)
|
rs1557855477
|
|
NM_001367561.1(DOCK7):c.983C>G (p.Ser328Ter)
|
rs886037666
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)
|
rs121908334
|
|
NM_001368882.1(COL13A1):c.1138C>T (p.Gln380Ter)
|
rs2064735979
|
|
NM_001368882.1(COL13A1):c.1206del (p.Leu403fs)
|
rs864309662
|
|
NM_001368882.1(COL13A1):c.1559G>A (p.Gly520Asp)
|
rs2065959942
|
|
NM_001368882.1(COL13A1):c.1619del (p.Asn540fs)
|
rs2135829327
|
|
NM_001368882.1(COL13A1):c.1884_1886delinsCCCT (p.Ser629fs)
|
rs2136077497
|
|
NM_001368882.1(COL13A1):c.513del (p.Gly172fs)
|
rs1564932829
|
|
NM_001368882.1(COL13A1):c.648del (p.Gly217fs)
|
rs763281993
|
|
NM_001368882.1(COL13A1):c.675C>G (p.Tyr225Ter)
|
rs2134842358
|
|
NM_001371986.1(UNC80):c.151C>T (p.Arg51Ter)
|
rs869025320
|
|
NM_001371986.1(UNC80):c.1681_1682del (p.Thr561fs)
|
rs1574579609
|
|
NM_001371986.1(UNC80):c.2033del (p.Asn678fs)
|
rs869025318
|
|
NM_001371986.1(UNC80):c.2331+1G>T
|
rs1280592781
|
|
NM_001371986.1(UNC80):c.2399del (p.Leu800fs)
|
rs1135401813
|
|
NM_001371986.1(UNC80):c.2914C>T (p.Gln972Ter)
|
rs2153828826
|
|
NM_001371986.1(UNC80):c.3042-1G>T
|
rs2081563738
|
|
NM_001371986.1(UNC80):c.3853C>T (p.Arg1285Ter)
|
rs1574855486
|
|
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter)
|
rs1289499829
|
|
NM_001371986.1(UNC80):c.4144G>T (p.Glu1382Ter)
|
rs981874506
|
|
NM_001371986.1(UNC80):c.5570_5571del (p.Val1857fs)
|
rs2090097617
|
|
NM_001371986.1(UNC80):c.565G>A (p.Val189Met)
|
rs864321623
|
|
NM_001371986.1(UNC80):c.5869C>T (p.Arg1957Ter)
|
rs1262654975
|
|
NM_001371986.1(UNC80):c.601-1G>A
|
rs1574434743
|
|
NM_001371986.1(UNC80):c.6337C>T (p.Arg2113Ter)
|
|
|
NM_001371986.1(UNC80):c.6646+1del
|
rs2091489920
|
|
NM_001371986.1(UNC80):c.6976C>T (p.Gln2326Ter)
|
rs2124981606
|
|
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs)
|
rs1575147319
|
|
NM_001371986.1(UNC80):c.7805G>C (p.Arg2602Thr)
|
rs869025317
|
|
NM_001371986.1(UNC80):c.7955T>A (p.Leu2652Ter)
|
rs869025319
|
|
NM_001371986.1(UNC80):c.8256+2T>G
|
rs1575179679
|
|
NM_001371986.1(UNC80):c.8314C>T (p.Arg2772Ter)
|
rs1575183610
|
|
NM_001371986.1(UNC80):c.8771_8772del (p.Lys2924fs)
|
rs1553621490
|
|
NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs)
|
rs1554110735
|
|
NM_001374353.1(GLI2):c.1272G>A (p.Trp424Ter)
|
rs121917707
|
|
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter)
|
rs1553476382
|
|
NM_001374353.1(GLI2):c.1384C>G (p.Arg462Gly)
|
rs121917708
|
|
NM_001374353.1(GLI2):c.1393A>T (p.Lys465Ter)
|
|
|
NM_001374353.1(GLI2):c.192dup (p.Asp65Ter)
|
rs1388607733
|
|
NM_001374353.1(GLI2):c.1934C>A (p.Ser645Ter)
|
|
|
NM_001374353.1(GLI2):c.2454del (p.Ser819fs)
|
|
|
NM_001374353.1(GLI2):c.2651del (p.Pro884fs)
|
|
|
NM_001374353.1(GLI2):c.3210dup (p.Thr1071fs)
|
rs1057518689
|
|
NM_001374353.1(GLI2):c.322del (p.Ala108fs)
|
rs1553471273
|
|
NM_001374353.1(GLI2):c.3387G>A (p.Trp1129Ter)
|
rs763165545
|
|
NM_001374353.1(GLI2):c.3567del (p.Gln1189fs)
|
rs1683179008
|
|
NM_001374353.1(GLI2):c.3625C>T (p.Arg1209Ter)
|
rs1683184865
|
|
NM_001374353.1(GLI2):c.4311C>G (p.Tyr1437Ter)
|
|
|
NM_001374353.1(GLI2):c.49del (p.Ser17fs)
|
rs2104696745
|
|
NM_001374353.1(GLI2):c.789_826del (p.Arg264fs)
|
rs1681993062
|
|
NM_001374353.1(GLI2):c.864_865del (p.His289fs)
|
rs398122882
|
|
NM_001374353.1(GLI2):c.891del (p.Gln297fs)
|
rs1057518696
|
|
NM_001374353.1(GLI2):c.9dup (p.Ser4fs)
|
|
|
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter)
|
rs1057518951
|
|
NM_001374828.1(ARID1B):c.1984C>T (p.Gln662Ter)
|
rs1060499668
|
|
NM_001378454.1(ALMS1):c.3149dup (p.Tyr1050Ter)
|
rs1671886130
|
|
NM_001378454.1(ALMS1):c.5173dup (p.Ala1725fs)
|
rs1671943905
|
|
NM_001378454.1(ALMS1):c.7367_7370del (p.Ile2456fs)
|
rs2103793713
|
|
NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter)
|
rs1188328539
|
|
NM_001378477.3(NYX):c.266G>C (p.Arg89Pro)
|
rs104894910
|
|
NM_001378477.3(NYX):c.287T>C (p.Ile96Thr)
|
rs104894911
|
|
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del)
|
rs281865194
|
|
NM_001378477.3(NYX):c.90C>A (p.Cys30Ter)
|
rs62637021
|
|
NM_001378615.1(CC2D2A):c.[2803C>T];[934G>A]
|
|
|
NM_001378778.1(MPDZ):c.2230C>T (p.Arg744Ter)
|
rs922703465
|
|
NM_001378778.1(MPDZ):c.3360-2A>G
|
rs1950043713
|
|
NM_001378778.1(MPDZ):c.414del (p.Phe138fs)
|
rs1267168609
|
|
NM_001378778.1(MPDZ):c.5125_5126insGTAT (p.Tyr1709fs)
|
rs2131610068
|
|
NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr)
|
rs1554644827
|
|
NM_001378778.1(MPDZ):c.5305G>T (p.Gly1769Ter)
|
rs772351764
|
|
NM_001378778.1(MPDZ):c.628C>T (p.Gln210Ter)
|
rs372127610
|
|
NM_001378778.1(MPDZ):c.755G>A (p.Trp252Ter)
|
rs797045707
|
|
NM_001378964.1(CDON):c.2065C>G (p.Pro689Ala)
|
rs387906995
|
|
NM_001378964.1(CDON):c.2339T>A (p.Val780Glu)
|
rs387906996
|
|
NM_001378964.1(CDON):c.2368A>G (p.Thr790Ala)
|
rs387906997
|
|
NM_001379200.1(TBX1):c.1015C>T (p.Gln339Ter)
|
|
|
NM_001379200.1(TBX1):c.1027del (p.Thr343fs)
|
|
|
NM_001379200.1(TBX1):c.1063C>T (p.Gln355Ter)
|
rs1936845711
|
|
NM_001379200.1(TBX1):c.1117del (p.Leu373fs)
|
rs2145838229
|
|
NM_001379200.1(TBX1):c.1179_1180insAG (p.Leu394fs)
|
rs1936852915
|
|
NM_001379200.1(TBX1):c.1206_1207insGAACCCCGAGC (p.Ser403fs)
|
|
|
NM_001379200.1(TBX1):c.1250del (p.Ser417fs)
|
rs1601294362
|
|
NM_001379200.1(TBX1):c.1252G>T (p.Glu418Ter)
|
|
|
NM_001379200.1(TBX1):c.1326_1348del (p.Pro444fs)
|
|
|
NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter)
|
rs2145827917
|
|
NM_001379200.1(TBX1):c.195_229del (p.Ala66fs)
|
rs2145827929
|
|
NM_001379200.1(TBX1):c.198_229dup (p.His77fs)
|
|
|
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs)
|
rs1936640897
|
|
NM_001379200.1(TBX1):c.199_227del (p.Pro67fs)
|
|
|
NM_001379200.1(TBX1):c.201dup (p.Gly68fs)
|
|
|
NM_001379200.1(TBX1):c.243del (p.Phe81fs)
|
|
|
NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter)
|
rs1555895466
|
|
NM_001379200.1(TBX1):c.470T>A (p.Phe157Tyr)
|
rs28939675
|
|
NM_001379200.1(TBX1):c.609C>G (p.His203Gln)
|
rs74315522
|
|
NM_001379200.1(TBX1):c.652del (p.Gln218fs)
|
rs1936760837
|
|
NM_001379200.1(TBX1):c.711+1G>A
|
rs1731409120
|
|
NM_001379200.1(TBX1):c.794_798dup (p.Glu267fs)
|
rs2145835194
|
|
NM_001379200.1(TBX1):c.881del (p.Lys294fs)
|
rs2145836457
|
|
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs)
|
rs1936634853
|
|
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)
|
rs387907243
|
|
NM_001382.4(DPAGT1):c.358C>A (p.Leu120Met)
|
rs387907244
|
|
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs)
|
rs1185483085
|
|
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)
|
rs1315559074
|
|
NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter)
|
rs2134919748
|
|
NM_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)
|
|
|
NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs)
|
rs2134901573
|
|
NM_001382.4(DPAGT1):c.79del (p.Thr27fs)
|
|
|
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)
|
rs397515328
|
|
NM_001382347.1(MYO5A):c.4200C>G (p.Ser1400Arg)
|
rs1114167290
|
|
NM_001394062.1(MACF1):c.12265C>T (p.Gln4089Ter)
|
rs2148518682
|
|
NM_001394062.1(MACF1):c.20293G>C (p.Gly6765Arg)
|
rs1488808726
|
|
NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe)
|
rs1557668270
|
|
NM_001394062.1(MACF1):c.21877G>T (p.Asp7293Tyr)
|
rs1557670503
|
|
NM_001394062.1(MACF1):c.21883T>G (p.Cys7295Gly)
|
rs1557670515
|
|
NM_001394062.1(MACF1):c.21884G>T (p.Cys7295Phe)
|
rs1557670520
|
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001429.3:c.4271_4367del
|
|
|
NM_001429.4(EP300):c.104_107del (p.Ser35fs)
|
rs886037664
|
|
NM_001429.4(EP300):c.108_111del (p.Phe37fs)
|
|
|
NM_001429.4(EP300):c.1423dup (p.Tyr475fs)
|
rs2145715677
|
|
NM_001429.4(EP300):c.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA (p.Ala536_Ile537delinsTyrValGluProTer)
|
rs1601610306
|
|
NM_001429.4(EP300):c.1729del (p.Gln577fs)
|
|
|
NM_001429.4(EP300):c.1814dup (p.Met605fs)
|
|
|
NM_001429.4(EP300):c.1942C>T (p.Arg648Ter)
|
rs137853039
|
|
NM_001429.4(EP300):c.1957C>T (p.Gln653Ter)
|
rs1601613391
|
|
NM_001429.4(EP300):c.2164dup (p.Gln722fs)
|
rs879253873
|
|
NM_001429.4(EP300):c.2225del (p.Pro742fs)
|
rs2059021664
|
|
NM_001429.4(EP300):c.2251_2257del (p.Tyr751fs)
|
rs1601618876
|
|
NM_001429.4(EP300):c.2333dup (p.Asn779fs)
|
rs2145736063
|
|
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)
|
rs953108559
|
|
NM_001429.4(EP300):c.2734C>T (p.Gln912Ter)
|
|
|
NM_001429.4(EP300):c.2877_2884del (p.Thr960fs)
|
rs1569108381
|
|
NM_001429.4(EP300):c.2893C>T (p.Gln965Ter)
|
|
|
NM_001429.4(EP300):c.2983G>T (p.Glu995Ter)
|
rs1555909666
|
|
NM_001429.4(EP300):c.3014_3015del (p.Asp1004_Cys1005insTer)
|
rs2059050320
|
|
NM_001429.4(EP300):c.3070_3071insT (p.Lys1024fs)
|
rs1601621506
|
|
NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs)
|
rs1555909697
|
|
NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter)
|
rs886041830
|
|
NM_001429.4(EP300):c.3166C>T (p.Gln1056Ter)
|
rs1601623271
|
|
NM_001429.4(EP300):c.3262-2A>G
|
rs1555910114
|
|
NM_001429.4(EP300):c.3367del (p.Met1124fs)
|
rs1601624722
|
|
NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs)
|
rs1601624754
|
|
NM_001429.4(EP300):c.3485dup (p.Tyr1162Ter)
|
rs1601624790
|
|
NM_001429.4(EP300):c.3671+1G>A
|
rs2059103511
|
|
NM_001429.4(EP300):c.3672_3673dup (p.Thr1225fs)
|
|
|
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs)
|
rs1555910482
|
|
NM_001429.4(EP300):c.3684del (p.Glu1229fs)
|
rs2145754777
|
|
NM_001429.4(EP300):c.3707dup (p.Asn1236fs)
|
rs1601628237
|
|
NM_001429.4(EP300):c.3728+5G>C
|
rs1114167305
|
|
NM_001429.4(EP300):c.3826_3827dup (p.Leu1276fs)
|
rs2145759333
|
|
NM_001429.4(EP300):c.3858_3859dup (p.Lys1287fs)
|
|
|
NM_001429.4(EP300):c.3905dup (p.Glu1303fs)
|
rs2059152743
|
|
NM_001429.4(EP300):c.4026-9A>G
|
rs2059153923
|
|
NM_001429.4(EP300):c.4065C>G (p.Tyr1355Ter)
|
rs886043598
|
|
NM_001429.4(EP300):c.4066C>T (p.Arg1356Ter)
|
rs1440862488
|
|
NM_001429.4(EP300):c.4073_4074dup (p.Ala1359fs)
|
rs2059154269
|
|
NM_001429.4(EP300):c.4216_4219dup (p.Lys1407delinsThrTer)
|
rs2145765098
|
|
NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter)
|
rs1601634247
|
|
NM_001429.4(EP300):c.4444_4445dup (p.Asp1482fs)
|
|
|
NM_001429.4(EP300):c.4465C>T (p.Gln1489Ter)
|
|
|
NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys)
|
rs1114167306
|
|
NM_001429.4(EP300):c.4513G>T (p.Glu1505Ter)
|
|
|
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter)
|
rs1569118537
|
|
NM_001429.4(EP300):c.4595del (p.Asn1532fs)
|
|
|
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr)
|
rs1057521737
|
|
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
|
rs1057517732
|
|
NM_001429.4(EP300):c.4785del (p.Phe1596fs)
|
rs2145512052
|
|
NM_001429.4(EP300):c.4826_4833dup (p.Ile1612fs)
|
rs2145512343
|
|
NM_001429.4(EP300):c.4836dup (p.Val1613fs)
|
rs797045559
|
|
NM_001429.4(EP300):c.4873del (p.Asp1625fs)
|
rs2145512676
|
|
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter)
|
rs139310551
|
|
NM_001429.4(EP300):c.4947dup (p.Ser1650fs)
|
|
|
NM_001429.4(EP300):c.494_497del (p.Met165fs)
|
rs1601598354
|
|
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs)
|
rs1555912040
|
|
NM_001429.4(EP300):c.5527dup (p.Gln1843fs)
|
|
|
NM_001429.4(EP300):c.5578_5584del (p.Gly1860fs)
|
rs1601640102
|
|
NM_001429.4(EP300):c.5688_5689del (p.Ser1897fs)
|
|
|
NM_001429.4(EP300):c.5747dup (p.Pro1917fs)
|
rs1601640370
|
|
NM_001429.4(EP300):c.584C>A (p.Ser195Ter)
|
rs2058829252
|
|
NM_001429.4(EP300):c.5880dup (p.Pro1961fs)
|
|
|
NM_001429.4(EP300):c.5961_5962del (p.Gly1988fs)
|
|
|
NM_001429.4(EP300):c.6101del (p.Gly2034fs)
|
rs2145519321
|
|
NM_001429.4(EP300):c.6298_6317del (p.Ile2100fs)
|
|
|
NM_001429.4(EP300):c.6323del (p.Gln2108fs)
|
|
|
NM_001429.4(EP300):c.638del (p.Gly213fs)
|
rs1569090642
|
|
NM_001429.4(EP300):c.650dup (p.Asn217fs)
|
rs2145697647
|
|
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)
|
rs587778256
|
|
NM_001429.4(EP300):c.6739dup (p.Gln2247fs)
|
|
|
NM_001429.4(EP300):c.6787C>T (p.Arg2263Ter)
|
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs)
|
rs797045560
|
|
NM_001429.4(EP300):c.70_71del (p.Ser24fs)
|
rs1555902247
|
|
NM_001429.4(EP300):c.7100del (p.Pro2367fs)
|
rs1569122847
|
|
NM_001429.4(EP300):c.7222_7223del (p.Gln2408fs)
|
rs1057519375
|
|
NM_001429.4(EP300):c.7244A>G (p.Ter2415Trp)
|
rs1601642812
|
|
NM_001429.4(EP300):c.769_786del (p.Tyr257_Gly262del)
|
rs876661318
|
|
NM_001429.4(EP300):c.832del (p.Thr278fs)
|
rs2058879988
|
|
NM_001429.4:c.730_1760del
|
|
|
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.6663_6664del (p.Phe2222fs)
|
rs2128939337
|
|
NM_001458.5(FLNC):c.670C>T (p.Gln224Ter)
|
|
|
NM_001458.5(FLNC):c.671del (p.Gln224fs)
|
rs2128934076
|
|
NM_001458.5(FLNC):c.6721C>T (p.Gln2241Ter)
|
rs2128939369
|
|
NM_001458.5(FLNC):c.6727+21_7065del
|
|
|
NM_001458.5(FLNC):c.6749_6758del (p.Met2250fs)
|
|
|
NM_001458.5(FLNC):c.6753_6754dup (p.Ala2252fs)
|
|
|
NM_001458.5(FLNC):c.6753dup (p.Ala2252fs)
|
rs1808965674
|
|
NM_001458.5(FLNC):c.6770dup (p.Ser2258fs)
|
|
|
NM_001458.5(FLNC):c.6802G>T (p.Glu2268Ter)
|
rs1156444972
|
|
NM_001458.5(FLNC):c.6812del (p.Asp2271fs)
|
|
|
NM_001458.5(FLNC):c.6835_6838del (p.Val2279fs)
|
|
|
NM_001458.5(FLNC):c.6841dup (p.Gln2281fs)
|
rs2128939496
|
|
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs)
|
rs2128939508
|
|
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter)
|
rs1585169831
|
|
NM_001458.5(FLNC):c.6890dup (p.Pro2298fs)
|
|
|
NM_001458.5(FLNC):c.6907C>T (p.Gln2303Ter)
|
|
|
NM_001458.5(FLNC):c.6955del (p.Ala2319fs)
|
rs2128939548
|
|
NM_001458.5(FLNC):c.6957del (p.Gly2320fs)
|
|
|
NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter)
|
rs748416758
|
|
NM_001458.5(FLNC):c.697C>T (p.Gln233Ter)
|
rs1554397464
|
|
NM_001458.5(FLNC):c.6982G>A (p.Val2328Met)
|
rs2128939561
|
|
NM_001458.5(FLNC):c.6998_6999insATCT (p.Glu2334fs)
|
|
|
NM_001458.5(FLNC):c.7000G>T (p.Glu2334Ter)
|
|
|
NM_001458.5(FLNC):c.7014G>A (p.Trp2338Ter)
|
rs2128939606
|
|
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)
|
|
|
NM_001458.5(FLNC):c.7251+1G>A
|
rs1554401581
|
|
NM_001458.5(FLNC):c.7251+1G>T
|
rs1554401581
|
|
NM_001458.5(FLNC):c.7261del (p.Leu2421fs)
|
rs2128940107
|
|
NM_001458.5(FLNC):c.7273_7274insTTCAC (p.Gln2425fs)
|
|
|
NM_001458.5(FLNC):c.7294C>T (p.Gln2432Ter)
|
rs1554401756
|
|
NM_001458.5(FLNC):c.7309dup (p.Arg2437fs)
|
rs2128940130
|
|
NM_001458.5(FLNC):c.7338_7339del (p.Pro2447fs)
|
rs1585171628
|
|
NM_001458.5(FLNC):c.7341del (p.Ser2448fs)
|
|
|
NM_001458.5(FLNC):c.7365C>A (p.Tyr2455Ter)
|
rs540386120
|
|
NM_001458.5(FLNC):c.7371del (p.Glu2458fs)
|
rs1554401780
|
|
NM_001458.5(FLNC):c.7414G>T (p.Glu2472Ter)
|
rs948675422
|
|
NM_001458.5(FLNC):c.7495C>T (p.Gln2499Ter)
|
|
|
NM_001458.5(FLNC):c.7496_7497insTGCT (p.Gln2499fs)
|
rs1554401830
|
|
NM_001458.5(FLNC):c.7510del (p.Asp2504fs)
|
rs2128940259
|
|
NM_001458.5(FLNC):c.7526_7527delinsAG (p.Ser2509Ter)
|
rs1809085817
|
|
NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs)
|
rs1554401837
|
|
NM_001458.5(FLNC):c.7551_7552del (p.Gly2518fs)
|
|
|
NM_001458.5(FLNC):c.7562-1_7612dup
|
|
|
NM_001458.5(FLNC):c.7571del (p.Ser2523_Ser2524insTer)
|
rs1809097778
|
|
NM_001458.5(FLNC):c.7660del (p.Glu2554fs)
|
rs1809103569
|
|
NM_001458.5(FLNC):c.774del (p.Lys259fs)
|
rs1554397506
|
|
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs)
|
rs2128940399
|
|
NM_001458.5(FLNC):c.7757_7758delinsA (p.Ser2586fs)
|
rs1809109008
|
|
NM_001458.5(FLNC):c.778del (p.Ala260fs)
|
|
|
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs)
|
rs1554402003
|
|
NM_001458.5(FLNC):c.7929del (p.Leu2645fs)
|
rs1554402015
|
|
NM_001458.5(FLNC):c.794del (p.Gly265fs)
|
rs2128934191
|
|
NM_001458.5(FLNC):c.7980C>A (p.Cys2660Ter)
|
rs2128940614
|
|
NM_001458.5(FLNC):c.801del (p.Val268fs)
|
rs2128934193
|
|
NM_001458.5(FLNC):c.8028del (p.Thr2677fs)
|
|
|
NM_001458.5(FLNC):c.804del (p.Arg269fs)
|
|
|
NM_001458.5(FLNC):c.8051del (p.Val2684fs)
|
rs1809161384
|
|
NM_001458.5(FLNC):c.805C>T (p.Arg269Ter)
|
rs755583250
|
|
NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter)
|
rs1563006133
|
|
NM_001458.5(FLNC):c.8103_8104del (p.Asp2703fs)
|
|
|
NM_001458.5(FLNC):c.8107del (p.Asp2703fs)
|
rs1563006160
|
|
NM_001458.5(FLNC):c.8110_8111insC (p.Tyr2704fs)
|
|
|
NM_001458.5(FLNC):c.8129G>A (p.Trp2710Ter)
|
rs1585173340
|
|
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter)
|
rs121909518
|
|
NM_001458.5(FLNC):c.901C>T (p.Gln301Ter)
|
|
|
NM_001458.5(FLNC):c.964G>T (p.Glu322Ter)
|
rs1417082178
|
|
NM_001458.5(FLNC):c.985_986dup (p.Asn329fs)
|
|
|
NM_001497.4(B4GALT1):c.1031dup (p.Arg345fs)
|
rs1564035076
|
|
NM_001497.4(B4GALT1):c.579C>G (p.Tyr193Ter)
|
rs1840249855
|
|
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His)
|
rs1555666392
|
|
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
|
|
|
NM_001614.5(ACTG1):c.209C>T (p.Pro70Leu)
|
rs2143783696
|
|
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile)
|
rs281875325
|
|
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val)
|
rs11549190
|
|
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe)
|
rs281875326
|
|
NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys)
|
rs281875327
|
|
NM_001614.5(ACTG1):c.628C>T (p.Arg210Cys)
|
rs2031759596
|
|
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)
|
rs281875328
|
|
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)
|
rs281875329
|
|
NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile)
|
rs28999112
|
|
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser)
|
rs1598551290
|
|
NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala)
|
rs104894545
|
|
NM_001658.4(ARF1):c.103T>C (p.Tyr35His)
|
rs879036238
|
|
NM_001658.4(ARF1):c.103T>G (p.Tyr35Asp)
|
rs879036238
|
|
NM_001658.4(ARF1):c.151T>C (p.Phe51Leu)
|
rs2124857424
|
|
NM_001658.4(ARF1):c.153C>A (p.Phe51Leu)
|
rs2124857427
|
|
NM_001658.4(ARF1):c.296G>A (p.Arg99His)
|
rs1558087712
|
|
NM_001658.4(ARF1):c.379A>G (p.Lys127Glu)
|
rs1558087795
|
|
NM_001658.4(ARF1):c.392C>G (p.Pro131Arg)
|
rs2124858360
|
|
NM_001658.4(ARF1):c.392C>T (p.Pro131Leu)
|
rs2124858360
|
|
NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn)
|
rs1599017933
|
|
NM_001792.5(CDH2):c.1789G>A (p.Asp597Asn)
|
rs1599011050
|
|
NM_001792.5(CDH2):c.1789G>T (p.Asp597Tyr)
|
rs1599011050
|
|
NM_001792.5(CDH2):c.1802A>C (p.Asn601Thr)
|
rs201775968
|
|
NM_001792.5(CDH2):c.1839C>G (p.Cys613Trp)
|
rs754880999
|
|
NM_001792.5(CDH2):c.1880A>G (p.Asp627Gly)
|
rs1599010918
|
|
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)
|
rs199984052
|
|
NM_001792.5(CDH2):c.2563_2564del (p.Leu855fs)
|
rs1598982488
|
|
NM_001792.5(CDH2):c.2564_2567dup (p.Leu856fs)
|
rs1598982483
|
|
NM_001793.6(CDH3):c.830del (p.Gly277fs)
|
rs724159985
|
|
NM_001793.6(CDH3):c.965A>T (p.Asn322Ile)
|
rs121434543
|
|
NM_001848.3(COL6A1):c.1003-1G>A
|
rs886043330
|
|
NM_001848.3(COL6A1):c.1003-1G>T
|
rs886043330
|
|
NM_001848.3(COL6A1):c.1003-2A>C
|
rs797045477
|
|
NM_001848.3(COL6A1):c.1003-2A>G
|
rs797045477
|
|
NM_001848.3(COL6A1):c.1003-2del
|
rs1556425835
|
|
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)
|
rs886043321
|
|
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)
|
rs121912935
|
|
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val)
|
rs121912935
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1G>C
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1G>T
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1del
|
rs1556425853
|
|
NM_001848.3(COL6A1):c.1056+2T>A
|
|
|
NM_001848.3(COL6A1):c.1056+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>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.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.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.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_001904.4(CTNNB1):c.1014G>A (p.Trp338Ter)
|
rs1454068577
|
|
NM_001904.4(CTNNB1):c.1082-1G>C
|
rs2125637461
|
|
NM_001904.4(CTNNB1):c.1183C>T (p.Gln395Ter)
|
|
|
NM_001904.4(CTNNB1):c.1185+1dup
|
|
|
NM_001904.4(CTNNB1):c.1272_1275del (p.Ser425fs)
|
rs398122907
|
|
NM_001904.4(CTNNB1):c.1297A>T (p.Lys433Ter)
|
rs1559474364
|
|
NM_001904.4(CTNNB1):c.133del (p.Ser45fs)
|
rs2125617589
|
|
NM_001904.4(CTNNB1):c.1350dup (p.Val451fs)
|
rs2125639718
|
|
NM_001904.4(CTNNB1):c.1351dup (p.Val451fs)
|
|
|
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs)
|
rs1057519379
|
|
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)
|
rs397514554
|
|
NM_001904.4(CTNNB1):c.1588C>T (p.Gln530Ter)
|
rs1559474966
|
|
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)
|
rs886039332
|
|
NM_001904.4(CTNNB1):c.1612C>T (p.Gln538Ter)
|
|
|
NM_001904.4(CTNNB1):c.163G>T (p.Glu55Ter)
|
rs2125617859
|
|
NM_001904.4(CTNNB1):c.1672C>T (p.Gln558Ter)
|
rs1131692181
|
|
NM_001904.4(CTNNB1):c.1683+1del
|
|
|
NM_001904.4(CTNNB1):c.1706del (p.Ile569fs)
|
rs2125644627
|
|
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter)
|
rs1064796453
|
|
NM_001904.4(CTNNB1):c.1836_1837dup (p.Val613fs)
|
|
|
NM_001904.4(CTNNB1):c.1863dup (p.Ala622fs)
|
|
|
NM_001904.4(CTNNB1):c.1900G>T (p.Glu634Ter)
|
rs1575334103
|
|
NM_001904.4(CTNNB1):c.1904dup (p.Ala636fs)
|
|
|
NM_001904.4(CTNNB1):c.1924G>T (p.Glu642Ter)
|
rs2078436466
|
|
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs)
|
rs1553632361
|
|
NM_001904.4(CTNNB1):c.1961_1962del (p.Tyr654fs)
|
|
|
NM_001904.4(CTNNB1):c.1962T>G (p.Tyr654Ter)
|
rs750402920
|
|
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)
|
rs748294403
|
|
NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter)
|
rs886041553
|
|
NM_001904.4(CTNNB1):c.2008dup (p.Tyr670fs)
|
rs2125647138
|
|
NM_001904.4(CTNNB1):c.211dup (p.Ser71fs)
|
rs1575315766
|
|
NM_001904.4(CTNNB1):c.242-3C>A
|
|
|
NM_001904.4(CTNNB1):c.268C>T (p.Arg90Ter)
|
rs1369821061
|
|
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)
|
rs775104326
|
|
NM_001904.4(CTNNB1):c.306del (p.Thr102_Leu103insTer)
|
rs2078141730
|
|
NM_001904.4(CTNNB1):c.337C>T (p.Gln113Ter)
|
rs1553630279
|
|
NM_001904.4(CTNNB1):c.427_470dup (p.Lys158_Leu159insMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys)
|
rs1553630304
|
|
NM_001904.4(CTNNB1):c.468dup (p.Thr157fs)
|
rs1575316657
|
|
NM_001904.4(CTNNB1):c.495+1G>C
|
rs1559468403
|
|
NM_001904.4(CTNNB1):c.564dup (p.Met189fs)
|
rs2125622579
|
|
NM_001904.4(CTNNB1):c.646G>A (p.Gly216Arg)
|
rs2125623075
|
|
NM_001904.4(CTNNB1):c.705dup (p.Gly236fs)
|
rs587777412
|
|
NM_001904.4(CTNNB1):c.735-1G>A
|
|
|
NM_001904.4(CTNNB1):c.807del (p.Met271fs)
|
rs2078160286
|
|
NM_001904.4(CTNNB1):c.811del (p.Met271fs)
|
rs2078160335
|
|
NM_001904.4(CTNNB1):c.81dup (p.Gln28fs)
|
|
|
NM_001904.4(CTNNB1):c.865_867delinsCC (p.Thr289fs)
|
rs1553630507
|
|
NM_001904.4(CTNNB1):c.865_869del (p.Thr289fs)
|
|
|
NM_001904.4(CTNNB1):c.925C>T (p.Gln309Ter)
|
rs376393123
|
|
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter)
|
rs886041281
|
|
NM_001904.4(CTNNB1):c.999C>G (p.Tyr333Ter)
|
rs778624338
|
|
NM_001904.4(CTNNB1):c.999del (p.Thr332_Tyr333insTer)
|
|
|
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.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.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>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_001999.4(FBN2):c.1171G>A (p.Glu391Lys)
|
rs137852826
|
|
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg)
|
rs863223599
|
|
NM_001999.4(FBN2):c.3230G>A (p.Cys1077Tyr)
|
|
|
NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg)
|
rs1581230766
|
|
NM_001999.4(FBN2):c.3298T>G (p.Cys1100Gly)
|
|
|
NM_001999.4(FBN2):c.3343G>C (p.Asp1115His)
|
rs137852827
|
|
NM_001999.4(FBN2):c.3424T>C (p.Cys1142Arg)
|
rs1750918931
|
|
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly)
|
rs1750918931
|
|
NM_001999.4(FBN2):c.3425G>T (p.Cys1142Phe)
|
rs137852828
|
|
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe)
|
rs1206843725
|
|
NM_001999.4(FBN2):c.3472+2T>C
|
rs2126903614
|
|
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys)
|
rs1554123065
|
|
NM_001999.4(FBN2):c.3484T>C (p.Cys1162Arg)
|
rs1750894751
|
|
NM_001999.4(FBN2):c.3535G>T (p.Gly1179Cys)
|
|
|
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr)
|
rs863223567
|
|
NM_001999.4(FBN2):c.3598+6T>G
|
|
|
NM_001999.4(FBN2):c.3725-15A>G
|
rs587776519
|
|
NM_001999.4(FBN2):c.3736T>G (p.Cys1246Gly)
|
rs1554122857
|
|
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr)
|
rs137852825
|
|
NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp)
|
rs28931602
|
|
NM_001999.4(FBN2):c.3769T>G (p.Cys1257Gly)
|
rs1750812513
|
|
NM_001999.4(FBN2):c.3770G>A (p.Cys1257Tyr)
|
|
|
NM_001999.4(FBN2):c.3777T>A (p.Asn1259Lys)
|
rs267606802
|
|
NM_001999.4(FBN2):c.3803G>C (p.Cys1268Ser)
|
rs1750811749
|
|
NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly)
|
rs1581223990
|
|
NM_001999.4(FBN2):c.3974-26T>G
|
rs2126895611
|
|
NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr)
|
rs1750792792
|
|
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr)
|
rs794727560
|
|
NM_001999.4(FBN2):c.4222+5G>A
|
rs1554122550
|
|
NM_001999.4(FBN2):c.4273T>C (p.Cys1425Arg)
|
|
|
NM_001999.4(FBN2):c.4296C>A (p.Tyr1432Ter)
|
rs147046215
|
|
NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg)
|
rs1060503510
|
|
NM_001999.4(FBN2):c.4346-2A>G
|
rs587776518
|
|
NM_001999.4(FBN2):c.4346-2A>T
|
rs587776518
|
|
NM_001999.4(FBN2):c.4466G>A (p.Cys1489Tyr)
|
|
|
NM_001999.4(FBN2):c.4592_4594+3del
|
rs2126854512
|
|
NM_001999.4(FBN2):c.533-1G>C
|
rs1756369186
|
|
NM_001999.4(FBN2):c.5917+5G>A
|
rs1561758622
|
|
NM_001999.4(FBN2):c.6028G>C (p.Asp2010His)
|
rs1749713036
|
|
NM_001999.4(FBN2):c.827-2A>G
|
rs1561461125
|
|
NM_002016.2(FLG):c.544A>T (p.Lys182Ter)
|
rs1218912272
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)
|
rs869312824
|
|
NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr)
|
rs1131040
|
|
NM_002109.6(HARS1):c.730delG
|
rs1581505917
|
|
NM_002139.4(RBMX):c.1037_1059del (p.Glu346fs)
|
|
|
NM_002140.4(HNRNPK):c.1009delG
|
rs1554698470
|
|
NM_002140.4(HNRNPK):c.1094delG
|
rs1554698213
|
|
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_002242.4(KCNJ13):c.158G>A (p.Trp53Ter)
|
rs869320631
|
|
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile)
|
rs863224884
|
|
NM_002242.4(KCNJ13):c.494del (p.Asn165fs)
|
rs1699091441
|
|
NM_002242.4(KCNJ13):c.496C>T (p.Arg166Ter)
|
rs387906858
|
|
NM_002242.4(KCNJ13):c.722T>C (p.Leu241Pro)
|
rs143607153
|
|
NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter)
|
rs768323491
|
|
NM_002291.3(LAMB1):c.1442G>T (p.Cys481Phe)
|
rs879255267
|
|
NM_002291.3(LAMB1):c.1526del (p.Pro509fs)
|
|
|
NM_002291.3(LAMB1):c.1752_1756dup (p.Ala586fs)
|
rs2150429989
|
|
NM_002291.3(LAMB1):c.2109+1G>T
|
rs387907344
|
|
NM_002291.3(LAMB1):c.2931del (p.Gln977fs)
|
rs879255266
|
|
NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer)
|
rs387907343
|
|
NM_002291.3(LAMB1):c.4188+1G>C
|
|
|
NM_002334.4(LRP4):c.1123_1126dup (p.Val376fs)
|
|
|
NM_002334.4(LRP4):c.1850del (p.Ala617fs)
|
|
|
NM_002334.4(LRP4):c.2260C>T (p.Arg754Ter)
|
rs1565790767
|
|
NM_002334.4(LRP4):c.2498del (p.Thr833fs)
|
|
|
NM_002334.4(LRP4):c.2830C>T (p.Gln944Ter)
|
rs1218582533
|
|
NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter)
|
rs1565785959
|
|
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys)
|
rs786205153
|
|
NM_002334.4(LRP4):c.4400dup (p.Asn1467fs)
|
|
|
NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu)
|
rs397514664
|
|
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter)
|
rs121908661
|
|
NM_002335.4(LRP5):c.1453G>T (p.Glu485Ter)
|
rs121908666
|
|
NM_002335.4(LRP5):c.1468del (p.Asp490fs)
|
rs1554967141
|
|
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)
|
rs121908664
|
|
NM_002335.4(LRP5):c.1512G>A (p.Trp504Ter)
|
rs545508982
|
|
NM_002335.4(LRP5):c.1584+1G>A
|
rs1554967176
|
|
NM_002335.4(LRP5):c.1655C>T (p.Thr552Met)
|
rs397514663
|
|
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp)
|
rs121908665
|
|
NM_002335.4(LRP5):c.2151dup (p.Asp718Ter)
|
rs121908662
|
|
NM_002335.4(LRP5):c.2305del (p.Asp769fs)
|
rs1554971145
|
|
NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter)
|
rs121908663
|
|
NM_002335.4(LRP5):c.29G>A (p.Trp10Ter)
|
rs121908660
|
|
NM_002335.4(LRP5):c.3804del (p.Glu1270fs)
|
rs80358319
|
|
NM_002335.4(LRP5):c.433C>T (p.Leu145Phe)
|
rs80358305
|
|
NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter)
|
rs149645175
|
|
NM_002454.3(MTRR):c.1677-1G>A
|
|
|
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs)
|
rs768980918
|
|
NM_002470.4(MYH3):c.1748A>C (p.Tyr583Ser)
|
rs1597488038
|
|
NM_002470.4(MYH3):c.2014C>T (p.Arg672Cys)
|
rs121913618
|
|
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)
|
rs121913617
|
|
NM_002470.4(MYH3):c.2474T>A (p.Val825Asp)
|
rs121913620
|
|
NM_002470.4(MYH3):c.533C>T (p.Thr178Ile)
|
rs121913619
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002641.4(PIGA):c.1028del (p.Asn343fs)
|
|
|
NM_002641.4(PIGA):c.1030_1032del (p.Leu344del)
|
rs587777399
|
|
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter)
|
rs387906726
|
|
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr)
|
rs2147714706
|
|
NM_002641.4(PIGA):c.1354G>A (p.Asp452Asn)
|
rs1921817809
|
|
NM_002641.4(PIGA):c.230G>T (p.Arg77Leu)
|
rs587777398
|
|
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys)
|
rs1569180071
|
|
NM_002641.4(PIGA):c.278C>T (p.Pro93Leu)
|
rs587777400
|
|
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)
|
rs587777396
|
|
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
|
|
|
NM_002641.4(PIGA):c.616A>T (p.Ile206Phe)
|
rs201119959
|
|
NM_002641.4(PIGA):c.76dup (p.Tyr26fs)
|
rs587777397
|
|
NM_002641.4(PIGA):c.823C>T (p.Arg275Trp)
|
rs1057524256
|
|
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.1789C>T (p.Arg597Trp)
|
rs139717885
|
|
NM_002693.3(POLG):c.2515del (p.Ala839fs)
|
rs1596352895
|
|
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)
|
rs121918048
|
|
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.925C>T (p.Arg309Cys)
|
rs886041592
|
|
NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)
|
|
|
NM_002875.5(RAD51):c.749G>A (p.Arg250Gln)
|
rs1555429623
|
|
NM_002875.5(RAD51):c.760C>T (p.Arg254Ter)
|
rs199925463
|
|
NM_002875.5(RAD51):c.855dup (p.Pro286fs)
|
rs34091239
|
|
NM_002941.4(ROBO1):c.1690C>T (p.Pro564Ser)
|
rs1229827011
|
|
NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser)
|
rs2081940708
|
|
NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val)
|
rs1586660389
|
|
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala)
|
rs281875198
|
|
NM_003070.5(SMARCA2):c.2258T>A (p.Leu753His)
|
rs2130464312
|
|
NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys)
|
rs1343138502
|
|
NM_003070.5(SMARCA2):c.2383T>C (p.Trp795Arg)
|
rs1821653681
|
|
NM_003070.5(SMARCA2):c.2486C>T (p.Thr829Ile)
|
rs797045974
|
|
NM_003070.5(SMARCA2):c.2554G>C (p.Glu852Gln)
|
rs281875199
|
|
NM_003070.5(SMARCA2):c.2561A>T (p.His854Leu)
|
rs281875202
|
|
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly)
|
rs281875207
|
|
NM_003070.5(SMARCA2):c.2642G>T (p.Gly881Val)
|
rs281875185
|
|
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu)
|
rs281875188
|
|
NM_003070.5(SMARCA2):c.2815C>T (p.His939Tyr)
|
rs281875190
|
|
NM_003070.5(SMARCA2):c.2838A>C (p.Leu946Phe)
|
|
|
NM_003070.5(SMARCA2):c.2853G>C (p.Lys951Asn)
|
rs1554624100
|
|
NM_003070.5(SMARCA2):c.3220C>G (p.Gln1074Glu)
|
rs1822649338
|
|
NM_003070.5(SMARCA2):c.3292G>A (p.Gly1098Ser)
|
|
|
NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys)
|
rs281875192
|
|
NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His)
|
rs281875197
|
|
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro)
|
rs281875197
|
|
NM_003070.5(SMARCA2):c.3395G>A (p.Gly1132Asp)
|
rs387907194
|
|
NM_003070.5(SMARCA2):c.3473A>T (p.Asp1158Val)
|
rs281875240
|
|
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly)
|
rs281875184
|
|
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln)
|
rs281875187
|
|
NM_003070.5(SMARCA2):c.3476G>T (p.Arg1159Leu)
|
rs281875187
|
|
NM_003070.5(SMARCA2):c.3479C>G (p.Ala1160Gly)
|
rs2130599529
|
|
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys)
|
rs1057518414
|
|
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His)
|
rs281875186
|
|
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)
|
rs281875189
|
|
NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys)
|
rs281875239
|
|
NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp)
|
rs281875238
|
|
NM_003070.5(SMARCA2):c.3655G>C (p.Ala1219Pro)
|
|
|
NM_003106.4(SOX2):c.70_89del (p.Asn24fs)
|
rs398123693
|
|
NM_003128.3(SPTBN1):c.2275_2285del (p.Trp759fs)
|
rs2103925559
|
|
NM_003244.4(TGIF1):c.16+1651C>G
|
rs121909070
|
|
NM_003244.4(TGIF1):c.188C>G (p.Pro63Arg)
|
rs121909067
|
|
NM_003244.4(TGIF1):c.257del (p.Phe86fs)
|
|
|
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_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer)
|
rs773840992
|
|
NM_003322.6(TULP1):c.1024C>T (p.Arg342Ter)
|
rs767030473
|
|
NM_003322.6(TULP1):c.1066C>A (p.Pro356Thr)
|
rs201836697
|
|
NM_003322.6(TULP1):c.1081del (p.Arg361fs)
|
rs1761067640
|
|
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)
|
rs387906837
|
|
NM_003322.6(TULP1):c.1112+2T>G
|
rs1761066725
|
|
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)
|
rs387906836
|
|
NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter)
|
rs387906835
|
|
NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro)
|
rs121909073
|
|
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)
|
rs1581736099
|
|
NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys)
|
rs121909075
|
|
NM_003322.6(TULP1):c.1388del (p.Asn463fs)
|
rs1581736024
|
|
NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln)
|
rs146311742
|
|
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu)
|
rs121909074
|
|
NM_003322.6(TULP1):c.1495+2dup
|
rs1581735836
|
|
NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)
|
rs1581734819
|
|
NM_003322.6(TULP1):c.1582_1587dup (p.Ala529_Ile530insPheAla)
|
rs2150921548
|
|
NM_003322.6(TULP1):c.524dup (p.Pro176fs)
|
rs1327062642
|
|
NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter)
|
rs1581743256
|
|
NM_003322.6(TULP1):c.568G>T (p.Glu190Ter)
|
rs1761161294
|
|
NM_003322.6(TULP1):c.718+2T>C
|
rs1581742970
|
|
NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs)
|
rs1581742633
|
|
NM_003322.6(TULP1):c.790C>T (p.Gln264Ter)
|
rs2150926986
|
|
NM_003322.6(TULP1):c.794del (p.Lys265fs)
|
rs1581742615
|
|
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs)
|
rs1581740762
|
|
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)
|
rs201070350
|
|
NM_003322.6(TULP1):c.99+1G>A
|
rs281865166
|
|
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile)
|
rs80356545
|
|
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly)
|
rs80356546
|
|
NM_003334.4(UBA1):c.1731C>T (p.Asn577=)
|
rs80356547
|
|
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)
|
rs121908681
|
|
NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)
|
|
|
NM_003620.4(PPM1D):c.1204_1208del (p.Asn402fs)
|
|
|
NM_003620.4(PPM1D):c.1216del (p.Thr406fs)
|
rs747947002
|
|
NM_003620.4(PPM1D):c.1221T>A (p.Cys407Ter)
|
rs189669693
|
|
NM_003620.4(PPM1D):c.1248_1252del (p.Pro417fs)
|
rs1567977657
|
|
NM_003620.4(PPM1D):c.1250dup (p.Pro418fs)
|
rs1064797100
|
|
NM_003620.4(PPM1D):c.1259dup (p.Ser421fs)
|
rs1598413570
|
|
NM_003620.4(PPM1D):c.1270dup (p.Glu424fs)
|
rs1064797098
|
|
NM_003620.4(PPM1D):c.1278dup (p.Trp427fs)
|
rs2031551825
|
|
NM_003620.4(PPM1D):c.1280G>A (p.Trp427Ter)
|
|
|
NM_003620.4(PPM1D):c.1288del (p.Arg429_Val430insTer)
|
|
|
NM_003620.4(PPM1D):c.1388_1389delinsA (p.Gly463fs)
|
rs2031555258
|
|
NM_003620.4(PPM1D):c.1535del (p.Asn512fs)
|
rs763475304
|
|
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro)
|
rs779027563
|
|
NM_003632.3(CNTNAP1):c.1677G>A (p.Trp559Ter)
|
rs756896276
|
|
NM_003632.3(CNTNAP1):c.1869G>A (p.Trp623Ter)
|
rs878853221
|
|
NM_003632.3(CNTNAP1):c.2011C>T (p.Gln671Ter)
|
rs1567973088
|
|
NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter)
|
rs1567973091
|
|
NM_003632.3(CNTNAP1):c.635T>C (p.Leu212Pro)
|
rs1567969825
|
|
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_003865.3(HESX1):c.135G>A (p.Trp45Ter)
|
rs2107565760
|
|
NM_003865.3(HESX1):c.173del (p.Leu58fs)
|
rs2060466023
|
|
NM_003865.3(HESX1):c.241G>T (p.Glu81Ter)
|
|
|
NM_003865.3(HESX1):c.305_306del (p.Glu102fs)
|
|
|
NM_003865.3(HESX1):c.305_306dup (p.Leu103fs)
|
rs748460226
|
|
NM_003865.3(HESX1):c.389del (p.Asn130fs)
|
|
|
NM_003865.3(HESX1):c.450_451del (p.Asp150fs)
|
rs587776664
|
|
NM_003865.3(HESX1):c.525del (p.Asn178fs)
|
|
|
NM_003865.3(HESX1):c.77T>C (p.Ile26Thr)
|
rs28936416
|
|
NM_003924.4(PHOX2B):c.13G>T (p.Glu5Ter)
|
rs2153113084
|
|
NM_003924.4(PHOX2B):c.195C>A (p.Cys65Ter)
|
|
|
NM_003924.4(PHOX2B):c.220C>T (p.Gln74Ter)
|
rs1297909281
|
|
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)
|
rs73810366
|
|
NM_003924.4(PHOX2B):c.234_240del (p.Pro77_Tyr78insTer)
|
rs2153113037
|
|
NM_003924.4(PHOX2B):c.249C>A (p.Tyr83Ter)
|
|
|
NM_003924.4(PHOX2B):c.292C>T (p.Gln98Ter)
|
rs1733947320
|
|
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln)
|
rs1733941453
|
|
NM_003924.4(PHOX2B):c.42C>A (p.Tyr14Ter)
|
|
|
NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)
|
rs1733899167
|
|
NM_003924.4(PHOX2B):c.479_480dup (p.Ala161fs)
|
|
|
NM_003924.4(PHOX2B):c.618del (p.Ser207fs)
|
rs587776626
|
|
NM_003924.4(PHOX2B):c.618dup (p.Ser207fs)
|
rs587776626
|
|
NM_003924.4(PHOX2B):c.691_698dup (p.Gly234fs)
|
rs2153112779
|
|
NM_003924.4(PHOX2B):c.692del (p.Gly231fs)
|
rs1310852326
|
|
NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs)
|
rs1733878065
|
|
NM_003924.4(PHOX2B):c.729_749dup (p.Ala254_Ala260dup)
|
rs772448418
|
|
NM_003924.4(PHOX2B):c.738_776dup (p.Ala248_Ala260dup)
|
rs757020181
|
|
NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup)
|
rs775006915
|
|
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup)
|
rs771383153
|
|
NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup)
|
rs779557320
|
|
NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup)
|
rs17879189
|
|
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)
|
rs761018157
|
|
NM_003924.4(PHOX2B):c.775_776insGGCGGCAGCGGCAGCGGCGGC (p.Ala259delinsGlyArgGlnArgGlnArgArgPro)
|
|
|
NM_003924.4(PHOX2B):c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC (p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGlnPro)
|
|
|
NM_003924.4(PHOX2B):c.866dup (p.Pro290fs)
|
rs1733868277
|
|
NM_004044.7(ATIC):c.131delinsGGA (p.Ala44fs)
|
rs2105985030
|
|
NM_004044.7(ATIC):c.1654A>T (p.Lys552Ter)
|
rs1389373911
|
|
NM_004044.7(ATIC):c.406G>A (p.Ala136Thr)
|
rs1575116846
|
|
NM_004098.4(EMX2):c.407-1G>A
|
rs1564751655
|
|
NM_004098.4(EMX2):c.407-4G>T
|
rs1411887961
|
|
NM_004098.4(EMX2):c.407G>T (p.Gly136Val)
|
rs755549724
|
|
NM_004098.4(EMX2):c.575_576insA (p.Ser192fs)
|
rs2133969658
|
|
NM_004115.4(FGF14):c.211dup (p.Ile71fs)
|
|
|
NM_004115.4(FGF14):c.434T>C (p.Phe145Ser)
|
rs104894393
|
|
NM_004115.4(FGF14):c.439G>T (p.Glu147Ter)
|
rs865878627
|
|
NM_004115.4(FGF14):c.487del (p.Arg163fs)
|
rs587776685
|
|
NM_004115.4(FGF14):c.512G>A (p.Trp171Ter)
|
|
|
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter)
|
rs1555370787
|
|
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro)
|
rs199422235
|
|
NM_004187.5(KDM5C):c.12dup (p.Ser5fs)
|
rs2146978931
|
|
NM_004187.5(KDM5C):c.1353C>G (p.Ser451Arg)
|
rs199422237
|
|
NM_004187.5(KDM5C):c.1361_1362del (p.Pro454fs)
|
rs2146919819
|
|
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)
|
rs1057518697
|
|
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys)
|
rs886037836
|
|
NM_004187.5(KDM5C):c.1616C>G (p.Ser539Ter)
|
|
|
NM_004187.5(KDM5C):c.202dup (p.Arg68fs)
|
rs782600511
|
|
NM_004187.5(KDM5C):c.2080C>T (p.Arg694Ter)
|
rs199422236
|
|
NM_004187.5(KDM5C):c.2116C>T (p.Gln706Ter)
|
rs2146852767
|
|
NM_004187.5(KDM5C):c.2172C>A (p.Cys724Ter)
|
rs281860639
|
|
NM_004187.5(KDM5C):c.2191C>T (p.Leu731Phe)
|
rs199422234
|
|
NM_004187.5(KDM5C):c.2214C>A (p.Cys738Ter)
|
|
|
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr)
|
rs199422239
|
|
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter)
|
rs1135401800
|
|
NM_004187.5(KDM5C):c.2517_2622del
|
rs2146844343
|
|
NM_004187.5(KDM5C):c.2622+2dup
|
rs1057519393
|
|
NM_004187.5(KDM5C):c.2704C>T (p.Gln902Ter)
|
|
|
NM_004187.5(KDM5C):c.2813_2816dup (p.Pro940fs)
|
|
|
NM_004187.5(KDM5C):c.2908C>T (p.Gln970Ter)
|
rs2146837810
|
|
NM_004187.5(KDM5C):c.2993del (p.Pro998fs)
|
|
|
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter)
|
rs782246658
|
|
NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs)
|
rs1934751829
|
|
NM_004187.5(KDM5C):c.3570_3573del (p.Gly1191fs)
|
|
|
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs)
|
rs1131692227
|
|
NM_004187.5(KDM5C):c.3624G>A (p.Trp1208Ter)
|
|
|
NM_004187.5(KDM5C):c.3895G>T (p.Glu1299Ter)
|
rs1934657828
|
|
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter)
|
rs1556852362
|
|
NM_004187.5(KDM5C):c.769_770del (p.Leu257fs)
|
rs1060499661
|
|
NM_004187.5(KDM5C):c.807del (p.Thr270fs)
|
rs1569278313
|
|
NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu)
|
rs2146978491
|
|
NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter)
|
rs2146934865
|
|
NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg)
|
rs2146934832
|
|
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del)
|
rs766667249
|
|
NM_004204.5(PIGQ):c.1578_1579del (p.Arg527fs)
|
rs2035826930
|
|
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)
|
rs180177041
|
|
NM_004341.5(CAD):c.1843-1G>A
|
rs769567624
|
|
NM_004341.5(CAD):c.1843-3C>T
|
rs1057519262
|
|
NM_004341.5(CAD):c.5545_5546del (p.Phe1849fs)
|
rs1676249686
|
|
NM_004341.5(CAD):c.571C>T (p.Arg191Ter)
|
rs1572423883
|
|
NM_004341.5(CAD):c.98T>G (p.Met33Arg)
|
rs751610198
|
|
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.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.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.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_004380.2(CREBBP):c.(?_-23)_85+?del
|
|
|
NM_004380.2(CREBBP):c.[4112T>A;4118C>A]
|
|
|
NM_004380.3(CREBBP):c.-204_85del (p.Met1fs)
|
rs1567386034
|
|
NM_004380.3(CREBBP):c.1044del (p.Glu349fs)
|
rs1596948052
|
|
NM_004380.3(CREBBP):c.1062dup (p.Gln355fs)
|
rs1567318022
|
|
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter)
|
rs587783460
|
|
NM_004380.3(CREBBP):c.1068del (p.Gln356fs)
|
|
|
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter)
|
rs121434625
|
|
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)
|
rs1384496494
|
|
NM_004380.3(CREBBP):c.1124del (p.Gly375fs)
|
rs1596947743
|
|
NM_004380.3(CREBBP):c.1127_1128dup (p.Val377fs)
|
rs1596947732
|
|
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter)
|
rs587783461
|
|
NM_004380.3(CREBBP):c.1216+2T>A
|
rs1596947522
|
|
NM_004380.3(CREBBP):c.1225_1231del (p.Cys409fs)
|
rs1596944340
|
|
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter)
|
rs1302427305
|
|
NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter)
|
rs587783463
|
|
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)
|
rs587783464
|
|
NM_004380.3(CREBBP):c.1280_1281del (p.Cys427fs)
|
rs1567316655
|
|
NM_004380.3(CREBBP):c.1327C>T (p.Gln443Ter)
|
|
|
NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter)
|
rs2053306001
|
|
NM_004380.3(CREBBP):c.1388_1395del (p.Gly463fs)
|
rs2053305017
|
|
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter)
|
rs1555484797
|
|
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter)
|
rs1596920745
|
|
NM_004380.3(CREBBP):c.1519dup (p.Gln507fs)
|
|
|
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter)
|
rs1596920501
|
|
NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs)
|
rs1567309482
|
|
NM_004380.3(CREBBP):c.1573+1G>A
|
rs1596920360
|
|
NM_004380.3(CREBBP):c.1590del (p.Asn530fs)
|
rs587783465
|
|
NM_004380.3(CREBBP):c.1612dup (p.Thr538fs)
|
|
|
NM_004380.3(CREBBP):c.1618C>T (p.Gln540Ter)
|
rs398124138
|
|
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter)
|
rs1596917200
|
|
NM_004380.3(CREBBP):c.1663del (p.Leu555fs)
|
rs2053266530
|
|
NM_004380.3(CREBBP):c.1676+2_1676+5del
|
rs2141247044
|
|
NM_004380.3(CREBBP):c.1694del (p.Gly565fs)
|
rs1596916327
|
|
NM_004380.3(CREBBP):c.173_185del (p.Asn58fs)
|
rs1597054837
|
|
NM_004380.3(CREBBP):c.1821del (p.Lys607fs)
|
rs587783467
|
|
NM_004380.3(CREBBP):c.1824-1G>A
|
rs1596910004
|
|
NM_004380.3(CREBBP):c.1855dup (p.Ala619fs)
|
rs1596909915
|
|
NM_004380.3(CREBBP):c.1867_1874del (p.Asp623fs)
|
|
|
NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del)
|
rs1596909791
|
|
NM_004380.3(CREBBP):c.1911del (p.Asp639fs)
|
rs2141237372
|
|
NM_004380.3(CREBBP):c.1917dup (p.Met640fs)
|
rs1567306142
|
|
NM_004380.3(CREBBP):c.1941+1G>A
|
rs1555483834
|
|
NM_004380.3(CREBBP):c.1941+1G>T
|
rs1555483834
|
|
NM_004380.3(CREBBP):c.1941+2T>C
|
rs1596909656
|
|
NM_004380.3(CREBBP):c.1941+5G>A
|
rs2053202354
|
|
NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter)
|
rs2053190428
|
|
NM_004380.3(CREBBP):c.2005_2006delinsT (p.Lys668_Arg669insTer)
|
rs1596908213
|
|
NM_004380.3(CREBBP):c.201_202del (p.His67fs)
|
|
|
NM_004380.3(CREBBP):c.2026del (p.Gln676fs)
|
rs587783469
|
|
NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs)
|
rs587783470
|
|
NM_004380.3(CREBBP):c.2159-1G>T
|
rs1596897799
|
|
NM_004380.3(CREBBP):c.2178dup (p.Met727fs)
|
rs797045483
|
|
NM_004380.3(CREBBP):c.2233del (p.Ser745fs)
|
rs2053092574
|
|
NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter)
|
rs1057520652
|
|
NM_004380.3(CREBBP):c.2322del (p.Asn774fs)
|
rs1596895545
|
|
NM_004380.3(CREBBP):c.2330del (p.Gly777fs)
|
rs1596895500
|
|
NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs)
|
rs2141214738
|
|
NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter)
|
rs1597054662
|
|
NM_004380.3(CREBBP):c.2456dup (p.Ser820fs)
|
rs1596894889
|
|
NM_004380.3(CREBBP):c.2464-6T>A
|
rs2052993184
|
|
NM_004380.3(CREBBP):c.2526_2529dup (p.Pro844fs)
|
|
|
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter)
|
rs587783471
|
|
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs)
|
rs2141203402
|
|
NM_004380.3(CREBBP):c.2606_2607del (p.Leu869fs)
|
rs587783473
|
|
NM_004380.3(CREBBP):c.2679_2690delinsCC (p.Ser894fs)
|
rs797045484
|
|
NM_004380.3(CREBBP):c.2713_2719del (p.Ser905fs)
|
rs1596886295
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.2755C>T (p.Gln919Ter)
|
rs1596886183
|
|
NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter)
|
rs1596886132
|
|
NM_004380.3(CREBBP):c.2787dup (p.Pro930fs)
|
rs1596886048
|
|
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter)
|
rs587783475
|
|
NM_004380.3(CREBBP):c.2794del (p.Thr932fs)
|
rs2052980008
|
|
NM_004380.3(CREBBP):c.2803C>T (p.Gln935Ter)
|
|
|
NM_004380.3(CREBBP):c.2810dup (p.Ser938fs)
|
rs797045485
|
|
NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs)
|
rs1596885894
|
|
NM_004380.3(CREBBP):c.282dup (p.Val95fs)
|
rs797045486
|
|
NM_004380.3(CREBBP):c.2836C>T (p.Gln946Ter)
|
|
|
NM_004380.3(CREBBP):c.2854_2863dup (p.Gln955fs)
|
rs1596885651
|
|
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter)
|
rs587783476
|
|
NM_004380.3(CREBBP):c.2910dup (p.Arg971fs)
|
rs1596882629
|
|
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter)
|
rs1374436403
|
|
NM_004380.3(CREBBP):c.299del (p.Gly100fs)
|
rs587783477
|
|
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys)
|
rs797045487
|
|
NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs)
|
rs1596882124
|
|
NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter)
|
rs1596882010
|
|
NM_004380.3(CREBBP):c.3060+1G>T
|
rs1596882004
|
|
NM_004380.3(CREBBP):c.3061-1G>T
|
rs1555481030
|
|
NM_004380.3(CREBBP):c.3068del (p.Glu1023fs)
|
|
|
NM_004380.3(CREBBP):c.3077_3085delinsAA (p.Leu1026_Ala1029delinsTer)
|
rs797045488
|
|
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter)
|
rs1596878921
|
|
NM_004380.3(CREBBP):c.3099_3102del (p.Glu1034fs)
|
|
|
NM_004380.3(CREBBP):c.314_315del (p.Gly105fs)
|
rs1597054430
|
|
NM_004380.3(CREBBP):c.3168dup (p.Val1057fs)
|
rs1596878700
|
|
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter)
|
rs587783478
|
|
NM_004380.3(CREBBP):c.3235C>T (p.Gln1079Ter)
|
|
|
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer)
|
rs1596856390
|
|
NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)
|
|
|
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter)
|
rs587783479
|
|
NM_004380.3(CREBBP):c.3330_3334del (p.Phe1111fs)
|
rs1596856285
|
|
NM_004380.3(CREBBP):c.3366dup (p.Pro1123fs)
|
rs1596856176
|
|
NM_004380.3(CREBBP):c.3369+1G>A
|
rs587783480
|
|
NM_004380.3(CREBBP):c.3369+1G>T
|
rs587783480
|
|
NM_004380.3(CREBBP):c.3369+1del
|
rs2151385509
|
|
NM_004380.3(CREBBP):c.3375T>G (p.Tyr1125Ter)
|
|
|
NM_004380.3(CREBBP):c.3425T>C (p.Leu1142Pro)
|
rs2151383792
|
|
NM_004380.3(CREBBP):c.3432_3433del (p.Gly1145fs)
|
rs1596854369
|
|
NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter)
|
rs797045489
|
|
NM_004380.3(CREBBP):c.3461dup (p.Asp1155fs)
|
rs797045490
|
|
NM_004380.3(CREBBP):c.348_349dup (p.Ala117fs)
|
rs797045491
|
|
NM_004380.3(CREBBP):c.3494_3497dup (p.Tyr1167fs)
|
|
|
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)
|
rs28937315
|
|
NM_004380.3(CREBBP):c.3598del (p.Cys1200fs)
|
rs2052622209
|
|
NM_004380.3(CREBBP):c.3610-1G>A
|
rs1596852670
|
|
NM_004380.3(CREBBP):c.3610-1G>C
|
rs1596852670
|
|
NM_004380.3(CREBBP):c.3610-2A>G
|
rs1596852674
|
|
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter)
|
rs587783482
|
|
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter)
|
rs1596852578
|
|
NM_004380.3(CREBBP):c.3634_3638del (p.Cys1212fs)
|
rs2052610724
|
|
NM_004380.3(CREBBP):c.3659_3660delinsATGGTA (p.Thr1220fs)
|
rs1596852463
|
|
NM_004380.3(CREBBP):c.3661_3665del (p.Ile1221fs)
|
rs1596852443
|
|
NM_004380.3(CREBBP):c.3676del (p.Ala1226fs)
|
rs2151381815
|
|
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter)
|
rs748451307
|
|
NM_004380.3(CREBBP):c.3699-1469_3836+1579del
|
|
|
NM_004380.3(CREBBP):c.36del (p.Arg14fs)
|
rs2055490682
|
|
NM_004380.3(CREBBP):c.3748_3749dup (p.Leu1251fs)
|
|
|
NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter)
|
rs1597054242
|
|
NM_004380.3(CREBBP):c.3779+1G>A
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3779+1G>C
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3779+1G>T
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.3832del (p.Glu1278fs)
|
rs1596834998
|
|
NM_004380.3(CREBBP):c.3836+1G>A
|
rs200782888
|
|
NM_004380.3(CREBBP):c.3836+1G>C
|
rs200782888
|
|
NM_004380.3(CREBBP):c.3837-2A>T
|
rs1567277287
|
|
NM_004380.3(CREBBP):c.3914+1G>A
|
rs1555475352
|
|
NM_004380.3(CREBBP):c.3914+1G>T
|
rs1555475352
|
|
NM_004380.3(CREBBP):c.3977del (p.Ala1326fs)
|
rs1567276741
|
|
NM_004380.3(CREBBP):c.3982+1G>A
|
rs398124145
|
|
NM_004380.3(CREBBP):c.3983-2A>G
|
rs587783486
|
|
NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter)
|
rs587783489
|
|
NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter)
|
rs121434624
|
|
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter)
|
rs587783490
|
|
NM_004380.3(CREBBP):c.4078dup (p.Arg1360fs)
|
rs1596813570
|
|
NM_004380.3(CREBBP):c.4133+1G>A
|
rs587783491
|
|
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)
|
rs121434626
|
|
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter)
|
rs1596812306
|
|
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs)
|
rs1596812256
|
|
NM_004380.3(CREBBP):c.4230dup (p.Gly1411fs)
|
rs1555473668
|
|
NM_004380.3(CREBBP):c.4232del (p.Gly1411fs)
|
|
|
NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter)
|
rs1596812202
|
|
NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)
|
|
|
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter)
|
rs1596810465
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile)
|
rs2151334254
|
|
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu)
|
rs1555473491
|
|
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter)
|
rs147688139
|
|
NM_004380.3(CREBBP):c.4404_4405del (p.Gly1469fs)
|
rs2151330140
|
|
NM_004380.3(CREBBP):c.4404dup (p.Gly1469fs)
|
rs2052073167
|
|
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp)
|
rs587783495
|
|
NM_004380.3(CREBBP):c.4457_4458del (p.Cys1486fs)
|
|
|
NM_004380.3(CREBBP):c.4458_4459insT (p.His1487fs)
|
rs1596805807
|
|
NM_004380.3(CREBBP):c.4471C>T (p.Gln1491Ter)
|
|
|
NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser)
|
rs199817036
|
|
NM_004380.3(CREBBP):c.4482del (p.Lys1495fs)
|
|
|
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter)
|
rs2052070776
|
|
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys)
|
rs587783497
|
|
NM_004380.3(CREBBP):c.4559A>G (p.Lys1520Arg)
|
rs1596805575
|
|
NM_004380.3(CREBBP):c.4561-1G>A
|
rs2151327974
|
|
NM_004380.3(CREBBP):c.4561-2A>T
|
rs2151327978
|
|
NM_004380.3(CREBBP):c.4567_4568del (p.Phe1523fs)
|
|
|
NM_004380.3(CREBBP):c.4644_4645del (p.Leu1549fs)
|
rs1555472938
|
|
NM_004380.3(CREBBP):c.4644_4646dup (p.Leu1549dup)
|
rs1596804073
|
|
NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)
|
|
|
NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter)
|
rs1567269316
|
|
NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter)
|
rs1555472931
|
|
NM_004380.3(CREBBP):c.4672C>T (p.Gln1558Ter)
|
rs778375586
|
|
NM_004380.3(CREBBP):c.4679_4683del (p.Glu1560fs)
|
rs2151327706
|
|
NM_004380.3(CREBBP):c.4689del (p.Lys1565fs)
|
rs587783499
|
|
NM_004380.3(CREBBP):c.4728+2del
|
rs1596803811
|
|
NM_004380.3(CREBBP):c.472del (p.Gln158fs)
|
rs1555496581
|
|
NM_004380.3(CREBBP):c.4743del (p.Asp1581fs)
|
|
|
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs)
|
rs587783500
|
|
NM_004380.3(CREBBP):c.47_48delinsT (p.Lys16fs)
|
rs2055490250
|
|
NM_004380.3(CREBBP):c.4890+1G>A
|
rs1596793242
|
|
NM_004380.3(CREBBP):c.4944dup (p.Ile1649fs)
|
rs2151317319
|
|
NM_004380.3(CREBBP):c.494_507del (p.Ser165fs)
|
rs1597053795
|
|
NM_004380.3(CREBBP):c.49del (p.Leu17fs)
|
rs2055490182
|
|
NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter)
|
rs1555471874
|
|
NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter)
|
rs797045495
|
|
NM_004380.3(CREBBP):c.5028G>A (p.Trp1676Ter)
|
rs2051909999
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.508C>T (p.Gln170Ter)
|
rs1555496560
|
|
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)
|
rs2051906390
|
|
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp)
|
rs146718571
|
|
NM_004380.3(CREBBP):c.521del (p.Gly174fs)
|
|
|
NM_004380.3(CREBBP):c.5296_5297insCCCAC (p.Glu1766fs)
|
rs2151311901
|
|
NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del)
|
rs2151309803
|
|
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)
|
rs1567263168
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)
|
|
|
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs)
|
rs1567263114
|
|
NM_004380.3(CREBBP):c.567del (p.Asn190fs)
|
rs2054809165
|
|
NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)
|
|
|
NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs)
|
rs1555471323
|
|
NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter)
|
rs2151308835
|
|
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs)
|
rs1596786752
|
|
NM_004380.3(CREBBP):c.5782C>T (p.Gln1928Ter)
|
rs2151308298
|
|
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs)
|
rs1596786512
|
|
NM_004380.3(CREBBP):c.581del (p.Gly194fs)
|
rs2141491677
|
|
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter)
|
rs587783505
|
|
NM_004380.3(CREBBP):c.5834_5844del (p.Pro1945fs)
|
rs587783506
|
|
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5845dup (p.Ala1949fs)
|
rs1596786219
|
|
NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs)
|
rs1596786167
|
|
NM_004380.3(CREBBP):c.5869del (p.Glu1957fs)
|
rs587783508
|
|
NM_004380.3(CREBBP):c.5902C>T (p.Gln1968Ter)
|
|
|
NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter)
|
rs1567262537
|
|
NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs)
|
rs797045498
|
|
NM_004380.3(CREBBP):c.5986del (p.Ala1996fs)
|
rs1596785514
|
|
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter)
|
rs587783509
|
|
NM_004380.3(CREBBP):c.5991del (p.Pro1997_Val1998insTer)
|
|
|
NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs)
|
|
|
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter)
|
rs587783510
|
|
NM_004380.3(CREBBP):c.6104del (p.Leu2035fs)
|
rs2051830234
|
|
NM_004380.3(CREBBP):c.6107_6116del (p.Pro2036fs)
|
rs797045499
|
|
NM_004380.3(CREBBP):c.6113_6137del (p.Pro2038fs)
|
rs1596784713
|
|
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs)
|
rs1596784713
|
|
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter)
|
rs1597053504
|
|
NM_004380.3(CREBBP):c.6221_6230del (p.Leu2074fs)
|
rs1596784310
|
|
NM_004380.3(CREBBP):c.6227C>A (p.Ser2076Ter)
|
|
|
NM_004380.3(CREBBP):c.6238_6239del (p.Pro2080fs)
|
|
|
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)
|
rs1057518789
|
|
NM_004380.3(CREBBP):c.6307C>T (p.Gln2103Ter)
|
|
|
NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter)
|
rs199821421
|
|
NM_004380.3(CREBBP):c.6395_6417del (p.Gly2132fs)
|
rs797045500
|
|
NM_004380.3(CREBBP):c.6395_6417dup (p.Gln2140fs)
|
rs797045500
|
|
NM_004380.3(CREBBP):c.6404delinsTGC (p.Gln2135fs)
|
rs2051819669
|
|
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter)
|
rs1596783639
|
|
NM_004380.3(CREBBP):c.6466_6476del (p.Pro2156fs)
|
|
|
NM_004380.3(CREBBP):c.6587_6588dup (p.Leu2197fs)
|
|
|
NM_004380.3(CREBBP):c.662_698del (p.Gly221fs)
|
rs1597053322
|
|
NM_004380.3(CREBBP):c.733C>T (p.Gln245Ter)
|
|
|
NM_004380.3(CREBBP):c.761_767del (p.Ala254fs)
|
|
|
NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter)
|
rs2053923868
|
|
NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs)
|
rs797045502
|
|
NM_004380.3(CREBBP):c.828_840del (p.Phe276fs)
|
|
|
NM_004380.3(CREBBP):c.85+2T>G
|
|
|
NM_004380.3(CREBBP):c.851del (p.Gly284fs)
|
|
|
NM_004380.3(CREBBP):c.86-1G>T
|
rs11644721
|
|
NM_004380.3(CREBBP):c.86-2A>C
|
rs587783515
|
|
NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter)
|
rs587783516
|
|
NM_004380.3(CREBBP):c.967_974dup (p.Met325fs)
|
rs1596984633
|
|
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter)
|
rs1596948165
|
|
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_004434.3(EML1):c.1567C>T (p.Arg523Ter)
|
rs1555404109
|
|
NM_004434.3(EML1):c.1820+1G>C
|
rs2060059941
|
|
NM_004434.3(EML1):c.673T>C (p.Trp225Arg)
|
rs886037937
|
|
NM_004434.3(EML1):c.727A>G (p.Thr243Ala)
|
rs886037936
|
|
NM_004667.6(HERC2):c.11701-1G>A
|
rs1891259083
|
|
NM_004715.5(CTDP1):c.863+389C>T
|
rs113994102
|
|
NM_004727.3(SLC24A1):c.1613_1614del (p.Phe538fs)
|
|
|
NM_004727.3(SLC24A1):c.1691_1693del (p.Phe564del)
|
rs1555403793
|
|
NM_004727.3(SLC24A1):c.2968A>C (p.Ser990Arg)
|
rs1555407654
|
|
NM_004727.3(SLC24A1):c.3291_3294del (p.Val1099fs)
|
rs766780281
|
|
NM_004744.5(LRAT):c.217_218del (p.Met73fs)
|
rs1560870755
|
|
NM_004744.5(LRAT):c.400_401del (p.Lys134fs)
|
rs761717462
|
|
NM_004744.5(LRAT):c.504C>A (p.Cys168Ter)
|
rs780578479
|
|
NM_004744.5(LRAT):c.525T>A (p.Ser175Arg)
|
rs104893848
|
|
NM_004744.5(LRAT):c.554_555del (p.Val185fs)
|
rs1732935012
|
|
NM_004822.3(NTN1):c.1549ATC[1] (p.Ile518del)
|
rs1567749982
|
|
NM_004822.3(NTN1):c.1801T>C (p.Cys601Arg)
|
rs1567750186
|
|
NM_004822.3(NTN1):c.1802G>C (p.Cys601Ser)
|
rs1567750187
|
|
NM_004855.5(PIGB):c.1162G>C (p.Ala388Pro)
|
rs1595805026
|
|
NM_004855.5(PIGB):c.1220A>G (p.His407Arg)
|
rs1566960044
|
|
NM_004855.5(PIGB):c.1611A>G (p.Ile537Met)
|
rs2056056414
|
|
NM_004855.5(PIGB):c.847-10A>G
|
rs779296101
|
|
NM_004855.5(PIGB):c.856G>C (p.Val286Leu)
|
rs1595791368
|
|
NM_004928.3(CFAP410):c.643-2A>G
|
rs1602071524
|
|
NM_004935.4(CDK5):c.580+1G>A
|
rs786205164
|
|
NM_004958.4(MTOR):c.257del (p.Gly86fs)
|
rs2100983961
|
|
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)
|
rs786205165
|
|
NM_004958.4(MTOR):c.4555G>A (p.Ala1519Thr)
|
rs1644090362
|
|
NM_004958.4(MTOR):c.4785G>A (p.Met1595Ile)
|
rs869312671
|
|
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)
|
rs863225264
|
|
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)
|
rs869312666
|
|
NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys)
|
rs587777893
|
|
NM_004958.4(MTOR):c.6981G>A (p.Met2327Ile)
|
rs878855328
|
|
NM_004958.4(MTOR):c.7216G>A (p.Val2406Met)
|
rs1557739557
|
|
NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile)
|
rs1553171141
|
|
NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys)
|
rs587777900
|
|
NM_005045.4(RELN):c.1475del (p.Asn492fs)
|
|
|
NM_005045.4(RELN):c.204C>G (p.Tyr68Ter)
|
|
|
NM_005045.4(RELN):c.2075del (p.Asp692fs)
|
|
|
NM_005045.4(RELN):c.2086dup (p.Ser696fs)
|
rs1832583187
|
|
NM_005045.4(RELN):c.2364del (p.Asp789fs)
|
rs2117348851
|
|
NM_005045.4(RELN):c.265del (p.Leu88_Val89insTer)
|
rs2116670615
|
|
NM_005045.4(RELN):c.2896G>T (p.Glu966Ter)
|
|
|
NM_005045.4(RELN):c.3215del (p.Asp1072fs)
|
rs1831725857
|
|
NM_005045.4(RELN):c.329dup (p.Gly111fs)
|
rs797045912
|
|
NM_005045.4(RELN):c.3346C>T (p.Gln1116Ter)
|
|
|
NM_005045.4(RELN):c.3378G>A (p.Trp1126Ter)
|
rs2117255208
|
|
NM_005045.4(RELN):c.3485dup (p.Ile1163fs)
|
rs1831540545
|
|
NM_005045.4(RELN):c.3615_3616del (p.Glu1207fs)
|
|
|
NM_005045.4(RELN):c.3711+2T>C
|
|
|
NM_005045.4(RELN):c.3856C>T (p.Arg1286Ter)
|
|
|
NM_005045.4(RELN):c.3871C>T (p.Arg1291Ter)
|
rs2117248586
|
|
NM_005045.4(RELN):c.4190del (p.Asn1397fs)
|
rs2117208388
|
|
NM_005045.4(RELN):c.4449_4450del (p.Tyr1484fs)
|
rs2117205170
|
|
NM_005045.4(RELN):c.4510A>T (p.Arg1504Ter)
|
rs2117204949
|
|
NM_005045.4(RELN):c.4639C>T (p.Arg1547Ter)
|
rs2117189408
|
|
NM_005045.4(RELN):c.4726C>T (p.Arg1576Ter)
|
|
|
NM_005045.4(RELN):c.4904_4905insA (p.Met1635fs)
|
rs2117188195
|
|
NM_005045.4(RELN):c.5115del (p.Ile1706fs)
|
|
|
NM_005045.4(RELN):c.5193C>A (p.Tyr1731Ter)
|
rs587780435
|
|
NM_005045.4(RELN):c.5195_5208dup (p.Ile1737fs)
|
rs587780436
|
|
NM_005045.4(RELN):c.5323C>T (p.Arg1775Ter)
|
|
|
NM_005045.4(RELN):c.5455del (p.Glu1819fs)
|
|
|
NM_005045.4(RELN):c.5489del (p.Gly1830fs)
|
|
|
NM_005045.4(RELN):c.5530-1G>A
|
rs2117170464
|
|
NM_005045.4(RELN):c.5587C>T (p.Gln1863Ter)
|
rs797045915
|
|
NM_005045.4(RELN):c.5969+1G>A
|
rs869320767
|
|
NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs)
|
rs1830401647
|
|
NM_005045.4(RELN):c.6338_6342dup (p.Gly2115fs)
|
|
|
NM_005045.4(RELN):c.6474del (p.Cys2159fs)
|
rs2117139699
|
|
NM_005045.4(RELN):c.6526C>T (p.Gln2176Ter)
|
|
|
NM_005045.4(RELN):c.6574C>T (p.Arg2192Ter)
|
|
|
NM_005045.4(RELN):c.675_676del (p.Cys225_Glu226delinsTer)
|
|
|
NM_005045.4(RELN):c.6787G>T (p.Glu2263Ter)
|
|
|
NM_005045.4(RELN):c.7490+1G>A
|
rs587780437
|
|
NM_005045.4(RELN):c.8041C>T (p.Gln2681Ter)
|
|
|
NM_005045.4(RELN):c.8047G>T (p.Glu2683Ter)
|
rs1829533362
|
|
NM_005045.4(RELN):c.8433del (p.Pro2812fs)
|
|
|
NM_005045.4(RELN):c.8698G>T (p.Glu2900Ter)
|
|
|
NM_005045.4(RELN):c.8844-2A>G
|
|
|
NM_005045.4(RELN):c.9052C>T (p.Arg3018Ter)
|
rs2117021067
|
|
NM_005045.4(RELN):c.9474dup (p.Cys3159fs)
|
|
|
NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter)
|
rs751409835
|
|
NM_005045.4:c.6524_6671del
|
|
|
NM_005055.4(RAPSN):c.-199C>G
|
rs886037842
|
|
NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs)
|
rs765096923
|
|
NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter)
|
rs763094966
|
|
NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs)
|
rs786205885
|
|
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del)
|
rs759488854
|
|
NM_005055.5(RAPSN):c.1166+1G>C
|
|
|
NM_005055.5(RAPSN):c.1166+1G>T
|
|
|
NM_005055.5(RAPSN):c.1166+2T>G
|
|
|
NM_005055.5(RAPSN):c.1168del (p.Cys390fs)
|
|
|
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)
|
rs1555142142
|
|
NM_005055.5(RAPSN):c.1185del (p.Thr396fs)
|
rs2153306243
|
|
NM_005055.5(RAPSN):c.11dup (p.Asp4fs)
|
rs1565689206
|
|
NM_005055.5(RAPSN):c.123del (p.Arg42fs)
|
|
|
NM_005055.5(RAPSN):c.177C>A (p.Tyr59Ter)
|
|
|
NM_005055.5(RAPSN):c.192+2T>G
|
|
|
NM_005055.5(RAPSN):c.193-15C>A
|
rs45547231
|
|
NM_005055.5(RAPSN):c.1A>G (p.Met1Val)
|
|
|
NM_005055.5(RAPSN):c.210del (p.Ile70fs)
|
rs760999895
|
|
NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter)
|
|
|
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)
|
rs375218091
|
|
NM_005055.5(RAPSN):c.280del (p.Glu94fs)
|
|
|
NM_005055.5(RAPSN):c.288del (p.Cys97fs)
|
|
|
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter)
|
rs749287203
|
|
NM_005055.5(RAPSN):c.297del (p.His100fs)
|
rs2153311310
|
|
NM_005055.5(RAPSN):c.300_319del (p.His100fs)
|
rs2153311290
|
|
NM_005055.5(RAPSN):c.318C>A (p.Cys106Ter)
|
rs2076423585
|
|
NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter)
|
rs2076422949
|
|
NM_005055.5(RAPSN):c.358del (p.Gln120fs)
|
|
|
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)
|
rs1479498379
|
|
NM_005055.5(RAPSN):c.3G>T (p.Met1Ile)
|
|
|
NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter)
|
rs2153311231
|
|
NM_005055.5(RAPSN):c.424_425insTGTCTCCTCTATATAAATGCGTAGGGGTTTTAGTTAAATGTCCTTTGAAGTATACTTGAGGAGGGTGACGGGCGGTGTGTACGCGCTTCAGGGCCCTGTTCAACTAAGCACTCTACCCTGTTCAACTAAG (p.Ala142delinsValSerProLeuTyrLysCysValGlyValLeuValLysCysProLeuLysTyrThrTer)
|
|
|
NM_005055.5(RAPSN):c.46dup (p.Leu16fs)
|
rs2153311780
|
|
NM_005055.5(RAPSN):c.490C>G (p.Arg164Gly)
|
rs104894294
|
|
NM_005055.5(RAPSN):c.531+1G>A
|
|
|
NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter)
|
rs1015604630
|
|
NM_005055.5(RAPSN):c.546_547dup (p.Leu183fs)
|
rs2153309143
|
|
NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs)
|
rs786200904
|
|
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter)
|
rs1595899478
|
|
NM_005055.5(RAPSN):c.652_655dup (p.Leu219fs)
|
|
|
NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter)
|
rs2153309050
|
|
NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter)
|
rs2076368388
|
|
NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)
|
|
|
NM_005055.5(RAPSN):c.79C>T (p.Gln27Ter)
|
|
|
NM_005055.5(RAPSN):c.807C>A (p.Tyr269Ter)
|
rs104894301
|
|
NM_005055.5(RAPSN):c.838G>T (p.Gly280Ter)
|
rs1262674788
|
|
NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter)
|
rs1555142603
|
|
NM_005055.5(RAPSN):c.885C>A (p.Cys295Ter)
|
|
|
NM_005055.5(RAPSN):c.888G>A (p.Trp296Ter)
|
|
|
NM_005055.5(RAPSN):c.973C>T (p.Gln325Ter)
|
|
|
NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer)
|
|
|
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)
|
rs201947904
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)
|
rs80338759
|
|
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)
|
rs387907360
|
|
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)
|
rs387907361
|
|
NM_005120.3(MED12):c.5185C>A (p.His1729Asn)
|
rs387907362
|
|
NM_005120.3(MED12):c.6408+1G>A
|
rs2092347488
|
|
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)
|
rs1085307941
|
|
NM_005121.3(MED13):c.1968-501_2181+590del
|
|
|
NM_005121.3(MED13):c.1968-866_2181+621del
|
|
|
NM_005121.3(MED13):c.1968-867_2181+479del
|
|
|
NM_005149.3(TBX19):c.158_159del (p.Arg53fs)
|
rs763818059
|
|
NM_005149.3(TBX19):c.257T>G (p.Met86Arg)
|
rs74315378
|
|
NM_005149.3(TBX19):c.265del (p.Leu89fs)
|
rs1558190339
|
|
NM_005149.3(TBX19):c.383C>T (p.Ser128Phe)
|
rs74315377
|
|
NM_005149.3(TBX19):c.568C>T (p.Gln190Ter)
|
rs1553289042
|
|
NM_005149.3(TBX19):c.665+1G>T
|
rs1649150256
|
|
NM_005149.3(TBX19):c.665+1del
|
rs1558192351
|
|
NM_005149.3(TBX19):c.688G>T (p.Glu230Ter)
|
rs930801019
|
|
NM_005149.3(TBX19):c.782del (p.Asn261fs)
|
rs730880274
|
|
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_005215.3(DCC):c.698-?_985+?del (p.Asp233_Leu328del)
|
|
|
NM_005215.3:c.[3649A>G;3748G>A]
|
|
|
NM_005215.4(DCC):c.1140+1G>A
|
rs797044553
|
|
NM_005215.4(DCC):c.1154T>A (p.Leu385Ter)
|
|
|
NM_005215.4(DCC):c.1573+2T>G
|
|
|
NM_005215.4(DCC):c.1790G>C (p.Arg597Pro)
|
rs1057519056
|
|
NM_005215.4(DCC):c.2227A>T (p.Met743Leu)
|
rs199651452
|
|
NM_005215.4(DCC):c.2266C>T (p.Arg756Ter)
|
rs764481922
|
|
NM_005215.4(DCC):c.2280_2286del (p.Ile760fs)
|
|
|
NM_005215.4(DCC):c.2378T>G (p.Val793Gly)
|
rs1057519054
|
|
NM_005215.4(DCC):c.2414G>A (p.Gly805Glu)
|
rs1057519055
|
|
NM_005215.4(DCC):c.2677G>A (p.Ala893Thr)
|
rs1057519057
|
|
NM_005215.4(DCC):c.2774dup (p.Asn925fs)
|
rs2145024323
|
|
NM_005215.4(DCC):c.3073C>T (p.Arg1025Ter)
|
rs1909920586
|
|
NM_005215.4(DCC):c.3836_3837del (p.Leu1279fs)
|
rs797044556
|
|
NM_005215.4(DCC):c.571dup (p.Val191fs)
|
rs797044552
|
|
NM_005215.4(DCC):c.823C>T (p.Arg275Ter)
|
rs754914260
|
|
NM_005215.4(DCC):c.925del (p.Thr309fs)
|
rs1057519053
|
|
NM_005249.5(FOXG1):c.1007dup (p.Ser336fs)
|
|
|
NM_005249.5(FOXG1):c.1014dup (p.Met339fs)
|
rs1881816066
|
|
NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter)
|
rs764343290
|
|
NM_005249.5(FOXG1):c.1037del (p.Thr346fs)
|
|
|
NM_005249.5(FOXG1):c.1074del (p.Ala359fs)
|
|
|
NM_005249.5(FOXG1):c.1082dup (p.Leu362fs)
|
rs1555321405
|
|
NM_005249.5(FOXG1):c.1095_1114del (p.Arg366fs)
|
rs2138661946
|
|
NM_005249.5(FOXG1):c.1135del (p.Leu379fs)
|
rs1881819022
|
|
NM_005249.5(FOXG1):c.1141del (p.Ala381fs)
|
rs2138662009
|
|
NM_005249.5(FOXG1):c.1170C>A (p.Cys390Ter)
|
rs1392520466
|
|
NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter)
|
rs138747073
|
|
NM_005249.5(FOXG1):c.1244_1245del (p.Ser415fs)
|
|
|
NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter)
|
rs786204999
|
|
NM_005249.5(FOXG1):c.1255_1274dup (p.Met426fs)
|
|
|
NM_005249.5(FOXG1):c.1359_1360del (p.Cys453_Glu454delinsTer)
|
|
|
NM_005249.5(FOXG1):c.135_136dup (p.Gln46fs)
|
rs587783629
|
|
NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter)
|
rs786205000
|
|
NM_005249.5(FOXG1):c.1410del (p.Leu471fs)
|
rs2138662354
|
|
NM_005249.5(FOXG1):c.1412_1427del (p.Leu471fs)
|
|
|
NM_005249.5(FOXG1):c.1414_1417del (p.Ser472fs)
|
rs1881828200
|
|
NM_005249.5(FOXG1):c.170_179del (p.His57fs)
|
rs587783631
|
|
NM_005249.5(FOXG1):c.177_186dup (p.Pro63fs)
|
rs1555321206
|
|
NM_005249.5(FOXG1):c.208C>T (p.Gln70Ter)
|
|
|
NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter)
|
rs1555321237
|
|
NM_005249.5(FOXG1):c.222_223dup (p.Pro75fs)
|
rs2138660395
|
|
NM_005249.5(FOXG1):c.230del (p.Pro77fs)
|
|
|
NM_005249.5(FOXG1):c.239del (p.Pro80fs)
|
|
|
NM_005249.5(FOXG1):c.243_262del (p.Pro82fs)
|
rs2138660457
|
|
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)
|
rs398124202
|
|
NM_005249.5(FOXG1):c.256del (p.Gln86fs)
|
rs786205001
|
|
NM_005249.5(FOXG1):c.256dup (p.Gln86fs)
|
rs786205001
|
|
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs)
|
rs587783635
|
|
NM_005249.5(FOXG1):c.298del (p.Gln100fs)
|
rs587783636
|
|
NM_005249.5(FOXG1):c.301C>T (p.Gln101Ter)
|
rs1881788747
|
|
NM_005249.5(FOXG1):c.314_335del (p.Pro105fs)
|
|
|
NM_005249.5(FOXG1):c.356del (p.Ala119fs)
|
rs2138660687
|
|
NM_005249.5(FOXG1):c.385del (p.Glu129fs)
|
rs2138660748
|
|
NM_005249.5(FOXG1):c.389del (p.Pro130fs)
|
|
|
NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter)
|
rs1057520663
|
|
NM_005249.5(FOXG1):c.406del (p.Glu136fs)
|
rs1881793162
|
|
NM_005249.5(FOXG1):c.407_458del (p.Glu136fs)
|
rs1566445169
|
|
NM_005249.5(FOXG1):c.413del (p.Ala138fs)
|
|
|
NM_005249.5(FOXG1):c.430G>T (p.Glu144Ter)
|
rs797045583
|
|
NM_005249.5(FOXG1):c.439A>T (p.Lys147Ter)
|
|
|
NM_005249.5(FOXG1):c.453del (p.Glu154fs)
|
|
|
NM_005249.5(FOXG1):c.459_460del (p.Glu154fs)
|
|
|
NM_005249.5(FOXG1):c.460G>T (p.Glu154Ter)
|
rs1057520780
|
|
NM_005249.5(FOXG1):c.460del (p.Glu154fs)
|
rs398124204
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005249.5(FOXG1):c.469A>T (p.Lys157Ter)
|
rs2138660947
|
|
NM_005249.5(FOXG1):c.485dup (p.Gly163fs)
|
rs2138660968
|
|
NM_005249.5(FOXG1):c.499G>T (p.Glu167Ter)
|
|
|
NM_005249.5(FOXG1):c.500_501insC (p.Glu167fs)
|
|
|
NM_005249.5(FOXG1):c.500del (p.Glu167fs)
|
rs1555321294
|
|
NM_005249.5(FOXG1):c.505_506delinsC (p.Gly169fs)
|
rs786205003
|
|
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs)
|
rs786205003
|
|
NM_005249.5(FOXG1):c.506del (p.Gly169fs)
|
rs1452295073
|
|
NM_005249.5(FOXG1):c.506dup (p.Lys170fs)
|
rs1452295073
|
|
NM_005249.5(FOXG1):c.517G>T (p.Glu173Ter)
|
rs2138661070
|
|
NM_005249.5(FOXG1):c.532A>T (p.Lys178Ter)
|
rs2138661094
|
|
NM_005249.5(FOXG1):c.537C>G (p.Tyr179Ter)
|
rs1555321301
|
|
NM_005249.5(FOXG1):c.543G>C (p.Lys181Asn)
|
rs767961672
|
|
NM_005249.5(FOXG1):c.545C>A (p.Pro182Gln)
|
rs796052461
|
|
NM_005249.5(FOXG1):c.552dup (p.Ser185fs)
|
rs786205004
|
|
NM_005249.5(FOXG1):c.559A>G (p.Asn187Asp)
|
rs2138661139
|
|
NM_005249.5(FOXG1):c.559_561del (p.Asn187del)
|
|
|
NM_005249.5(FOXG1):c.561C>A (p.Asn187Lys)
|
rs796052462
|
|
NM_005249.5(FOXG1):c.561C>G (p.Asn187Lys)
|
rs796052462
|
|
NM_005249.5(FOXG1):c.565C>T (p.Leu189Phe)
|
rs1555321308
|
|
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr)
|
rs786205005
|
|
NM_005249.5(FOXG1):c.584G>C (p.Arg195Pro)
|
rs1001642335
|
|
NM_005249.5(FOXG1):c.586C>T (p.Gln196Ter)
|
rs796052463
|
|
NM_005249.5(FOXG1):c.587A>C (p.Gln196Pro)
|
rs2138661191
|
|
NM_005249.5(FOXG1):c.590G>T (p.Ser197Ile)
|
rs1881802605
|
|
NM_005249.5(FOXG1):c.592_594del (p.Pro198del)
|
rs2138661203
|
|
NM_005249.5(FOXG1):c.594del (p.Glu199fs)
|
|
|
NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro)
|
rs2138661213
|
|
NM_005249.5(FOXG1):c.604C>T (p.Leu202Phe)
|
|
|
NM_005249.5(FOXG1):c.611_618del (p.Leu204fs)
|
rs2138661224
|
|
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)
|
rs267606826
|
|
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter)
|
rs267606826
|
|
NM_005249.5(FOXG1):c.632T>C (p.Ile211Thr)
|
rs1594383648
|
|
NM_005249.5(FOXG1):c.634del (p.Ile211_Met212insTer)
|
rs2138661266
|
|
NM_005249.5(FOXG1):c.637A>T (p.Lys213Ter)
|
|
|
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu)
|
rs267606828
|
|
NM_005249.5(FOXG1):c.645C>A (p.Phe215Leu)
|
rs1057518165
|
|
NM_005249.5(FOXG1):c.645C>G (p.Phe215Leu)
|
rs1057518165
|
|
NM_005249.5(FOXG1):c.651C>G (p.Tyr217Ter)
|
rs796052464
|
|
NM_005249.5(FOXG1):c.654C>A (p.Tyr218Ter)
|
rs2138661305
|
|
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)
|
rs727503935
|
|
NM_005249.5(FOXG1):c.676C>G (p.Gln226Glu)
|
|
|
NM_005249.5(FOXG1):c.689G>A (p.Arg230His)
|
rs786205007
|
|
NM_005249.5(FOXG1):c.690_697dup (p.Leu233fs)
|
rs2138661370
|
|
NM_005249.5(FOXG1):c.692A>G (p.His231Arg)
|
rs2138661375
|
|
NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro)
|
rs786205008
|
|
NM_005249.5(FOXG1):c.725_731dup (p.His245fs)
|
|
|
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys)
|
rs786205009
|
|
NM_005249.5(FOXG1):c.732_741del (p.His245fs)
|
rs1555321345
|
|
NM_005249.5(FOXG1):c.735del (p.Tyr246fs)
|
rs2138661448
|
|
NM_005249.5(FOXG1):c.738C>G (p.Tyr246Ter)
|
rs1240929961
|
|
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp)
|
rs587783641
|
|
NM_005249.5(FOXG1):c.762C>A (p.Tyr254Ter)
|
rs587783642
|
|
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter)
|
rs587783642
|
|
NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter)
|
rs121913678
|
|
NM_005249.5(FOXG1):c.765G>C (p.Trp255Cys)
|
|
|
NM_005249.5(FOXG1):c.765G>T (p.Trp255Cys)
|
rs121913678
|
|
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro)
|
rs1555321353
|
|
NM_005249.5(FOXG1):c.777del (p.Ser260fs)
|
rs1594383798
|
|
NM_005249.5(FOXG1):c.788_792del (p.Asp263fs)
|
rs786205010
|
|
NM_005249.5(FOXG1):c.791T>G (p.Val264Gly)
|
|
|
NM_005249.5(FOXG1):c.793_808del (p.Phe265fs)
|
rs2138661547
|
|
NM_005249.5(FOXG1):c.797T>C (p.Ile266Thr)
|
|
|
NM_005249.5(FOXG1):c.797T>G (p.Ile266Ser)
|
rs886041744
|
|
NM_005249.5(FOXG1):c.814_821del (p.Lys272fs)
|
|
|
NM_005249.5(FOXG1):c.821G>A (p.Arg274Gln)
|
rs869312700
|
|
NM_005249.5(FOXG1):c.821G>C (p.Arg274Pro)
|
rs869312700
|
|
NM_005249.5(FOXG1):c.841del (p.Arg281fs)
|
|
|
NM_005249.5(FOXG1):c.85del (p.Gln29fs)
|
rs1594382746
|
|
NM_005249.5(FOXG1):c.921C>G (p.Tyr307Ter)
|
rs2138661742
|
|
NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter)
|
rs267606827
|
|
NM_005249.5(FOXG1):c.943_949dup (p.His317fs)
|
rs2138661778
|
|
NM_005249.5(FOXG1):c.946del (p.Leu316fs)
|
rs1555321380
|
|
NM_005249.5(FOXG1):c.958del (p.Arg320fs)
|
rs1555321382
|
|
NM_005249.5(FOXG1):c.969del (p.Ser323fs)
|
rs786205011
|
|
NM_005249.5(FOXG1):c.974dup (p.Leu325fs)
|
rs2138661811
|
|
NM_005249.5(FOXG1):c.981C>A (p.Tyr327Ter)
|
|
|
NM_005249.5(FOXG1):c.982_989dup (p.Ser332fs)
|
rs1594384015
|
|
NM_005249.5(FOXG1):c.995del (p.Ser332fs)
|
|
|
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)
|
rs377767347
|
|
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)
|
rs80338965
|
|
NM_005359.6(SMAD4):c.1308+2T>C
|
rs1555686624
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)
|
rs281875321
|
|
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met)
|
rs281875320
|
|
NM_005359.6(SMAD4):c.372_373dup (p.Ser125fs)
|
|
|
NM_005413.3(SIX3):c.[206G>A;406_407dup]
|
|
|
NM_005413.4(SIX3):c.20del (p.Leu7fs)
|
|
|
NM_005413.4(SIX3):c.275T>G (p.Val92Gly)
|
|
|
NM_005413.4(SIX3):c.339G>T (p.Trp113Cys)
|
rs137853021
|
|
NM_005413.4(SIX3):c.385G>T (p.Glu129Ter)
|
rs387906867
|
|
NM_005413.4(SIX3):c.402_416del (p.Arg135_Ala139del)
|
rs2103641880
|
|
NM_005413.4(SIX3):c.406_407del (p.Ala136fs)
|
rs753473749
|
|
NM_005413.4(SIX3):c.425del (p.Thr142fs)
|
|
|
NM_005413.4(SIX3):c.441_451del (p.Leu148fs)
|
rs1553337688
|
|
NM_005413.4(SIX3):c.507G>A (p.Trp169Ter)
|
rs1558420022
|
|
NM_005413.4(SIX3):c.556_557dup (p.Pro187fs)
|
rs1572624159
|
|
NM_005413.4(SIX3):c.676C>G (p.Leu226Val)
|
rs121917878
|
|
NM_005413.4(SIX3):c.696_705del (p.Asn232fs)
|
rs397515502
|
|
NM_005413.4(SIX3):c.749T>C (p.Val250Ala)
|
rs121917880
|
|
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro)
|
rs121917879
|
|
NM_005482.3(PIGK):c.158C>T (p.Ser53Phe)
|
rs1656295216
|
|
NM_005482.3(PIGK):c.260C>T (p.Ala87Val)
|
rs772948495
|
|
NM_005482.3(PIGK):c.87dup (p.Ile30fs)
|
rs2100594030
|
|
NM_005482.3(PIGK):c.94-1G>C
|
rs1656392054
|
|
NM_005482.3(PIGK):c.97C>T (p.Gln33Ter)
|
rs1656391998
|
|
NM_005573.4(LMNB1):c.124C>T (p.Arg42Trp)
|
rs1245844735
|
|
NM_005573.4(LMNB1):c.269G>C (p.Arg90Pro)
|
rs1750506249
|
|
NM_005573.4(LMNB1):c.455C>G (p.Ala152Gly)
|
rs935132421
|
|
NM_005573.4(LMNB1):c.939+1G>A
|
rs1751587092
|
|
NM_005573.4(LMNB1):c.939+2362_1491+560del
|
|
|
NM_005573.4(LMNB1):c.97A>G (p.Lys33Glu)
|
rs1750497172
|
|
NM_005592.4(MUSK):c.1031C>G (p.Pro344Arg)
|
rs387906803
|
|
NM_005592.4(MUSK):c.1091_1092del (p.Pro364fs)
|
|
|
NM_005592.4(MUSK):c.1218C>A (p.Cys406Ter)
|
|
|
NM_005592.4(MUSK):c.1299_1300del (p.Cys434fs)
|
|
|
NM_005592.4(MUSK):c.1384del (p.Thr462fs)
|
|
|
NM_005592.4(MUSK):c.1466C>G (p.Ser489Ter)
|
|
|
NM_005592.4(MUSK):c.1555C>T (p.Arg519Ter)
|
|
|
NM_005592.4(MUSK):c.1592C>G (p.Ser531Ter)
|
|
|
NM_005592.4(MUSK):c.1626del (p.Glu542fs)
|
rs2077841802
|
|
NM_005592.4(MUSK):c.166dup (p.Gln56fs)
|
|
|
NM_005592.4(MUSK):c.1735A>T (p.Arg579Ter)
|
rs752798426
|
|
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile)
|
rs766640370
|
|
NM_005592.4(MUSK):c.1826del (p.Lys609fs)
|
|
|
NM_005592.4(MUSK):c.1840del (p.Glu614fs)
|
|
|
NM_005592.4(MUSK):c.2010del (p.Met670fs)
|
|
|
NM_005592.4(MUSK):c.2021_2022dup (p.Val675fs)
|
|
|
NM_005592.4(MUSK):c.2034_2035del (p.His680fs)
|
|
|
NM_005592.4(MUSK):c.2122C>T (p.Gln708Ter)
|
|
|
NM_005592.4(MUSK):c.2180C>T (p.Ala727Val)
|
rs397515450
|
|
NM_005592.4(MUSK):c.2192del (p.Cys731fs)
|
|
|
NM_005592.4(MUSK):c.220dup (p.Arg74fs)
|
rs879255561
|
|
NM_005592.4(MUSK):c.2358G>A (p.Trp786Ter)
|
|
|
NM_005592.4(MUSK):c.2T>C (p.Met1Thr)
|
|
|
NM_005592.4(MUSK):c.31_34del (p.His11fs)
|
|
|
NM_005592.4(MUSK):c.461G>A (p.Trp154Ter)
|
|
|
NM_005592.4(MUSK):c.545dup (p.Glu183fs)
|
|
|
NM_005592.4(MUSK):c.581dup (p.Asn194fs)
|
rs1395885868
|
|
NM_005592.4(MUSK):c.582del (p.Asn194fs)
|
rs2131720596
|
|
NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)
|
|
|
NM_005592.4(MUSK):c.81_84del (p.Pro28fs)
|
|
|
NM_005592.4(MUSK):c.845_848dup (p.Ile283fs)
|
|
|
NM_005592.4(MUSK):c.868del (p.Glu290fs)
|
|
|
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del)
|
rs782433037
|
|
NM_005629.4(SLC6A8):c.1011C>G (p.Cys337Trp)
|
rs122453116
|
|
NM_005629.4(SLC6A8):c.1016+2T>C
|
rs1557045066
|
|
NM_005629.4(SLC6A8):c.1037_1038del (p.Leu346fs)
|
rs2148363178
|
|
NM_005629.4(SLC6A8):c.1040_1044delinsAAGA (p.Ile347fs)
|
rs2091469248
|
|
NM_005629.4(SLC6A8):c.1055G>A (p.Ser352Asn)
|
rs2148363211
|
|
NM_005629.4(SLC6A8):c.1104dup (p.Glu369fs)
|
rs1569539381
|
|
NM_005629.4(SLC6A8):c.1108C>T (p.Gln370Ter)
|
rs2148363243
|
|
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
|
|
|
NM_005629.4(SLC6A8):c.1141G>C (p.Gly381Arg)
|
rs122453114
|
|
NM_005629.4(SLC6A8):c.1142-2A>C
|
rs1603217176
|
|
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu)
|
rs1557045250
|
|
NM_005629.4(SLC6A8):c.1169C>T (p.Pro390Leu)
|
rs2148363661
|
|
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp)
|
rs1557045267
|
|
NM_005629.4(SLC6A8):c.1210del (p.Ala404fs)
|
rs2148363723
|
|
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del)
|
rs80338740
|
|
NM_005629.4(SLC6A8):c.1235_1248del (p.Leu412fs)
|
|
|
NM_005629.4(SLC6A8):c.1283del (p.Gly428fs)
|
rs2148363957
|
|
NM_005629.4(SLC6A8):c.1289_1290del (p.Leu430fs)
|
|
|
NM_005629.4(SLC6A8):c.1290_1309del (p.Asp431fs)
|
rs886041818
|
|
NM_005629.4(SLC6A8):c.1292_1302del (p.Asp431fs)
|
rs2148363973
|
|
NM_005629.4(SLC6A8):c.1330G>T (p.Glu444Ter)
|
rs2091474617
|
|
NM_005629.4(SLC6A8):c.1340_1341del (p.Val447fs)
|
|
|
NM_005629.4(SLC6A8):c.1393-12_1395del
|
rs2148364124
|
|
NM_005629.4(SLC6A8):c.1394_1399del (p.Gly465_Met467delinsVal)
|
rs2148364156
|
|
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg)
|
rs1603217473
|
|
NM_005629.4(SLC6A8):c.1428C>A (p.Tyr476Ter)
|
rs1239466041
|
|
NM_005629.4(SLC6A8):c.1455G>A (p.Trp485Ter)
|
rs1569539443
|
|
NM_005629.4(SLC6A8):c.1456C>T (p.Gln486Ter)
|
|
|
NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp)
|
rs122453118
|
|
NM_005629.4(SLC6A8):c.1487G>A (p.Trp496Ter)
|
|
|
NM_005629.4(SLC6A8):c.1494C>G (p.Tyr498Ter)
|
rs143916832
|
|
NM_005629.4(SLC6A8):c.1495+2T>G
|
|
|
NM_005629.4(SLC6A8):c.1495+5G>C
|
|
|
NM_005629.4(SLC6A8):c.1496-1_1510del
|
rs2148364395
|
|
NM_005629.4(SLC6A8):c.149dup (p.Pro51fs)
|
|
|
NM_005629.4(SLC6A8):c.1519_1543del (p.Ile507fs)
|
|
|
NM_005629.4(SLC6A8):c.1539C>G (p.Tyr513Ter)
|
|
|
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter)
|
rs122453113
|
|
NM_005629.4(SLC6A8):c.1551del (p.Trp518fs)
|
rs2148364489
|
|
NM_005629.4(SLC6A8):c.1554G>A (p.Trp518Ter)
|
|
|
NM_005629.4(SLC6A8):c.1556_1557insTTTC (p.Met519fs)
|
|
|
NM_005629.4(SLC6A8):c.1583del (p.Pro528fs)
|
rs1557045581
|
|
NM_005629.4(SLC6A8):c.1626C>A (p.Tyr542Ter)
|
rs140601882
|
|
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu)
|
rs397515558
|
|
NM_005629.4(SLC6A8):c.1659C>A (p.Tyr553Ter)
|
|
|
NM_005629.4(SLC6A8):c.1659C>G (p.Tyr553Ter)
|
rs1569539466
|
|
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu)
|
rs397515559
|
|
NM_005629.4(SLC6A8):c.1667G>A (p.Trp556Ter)
|
|
|
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr)
|
rs1603217815
|
|
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg)
|
rs122453115
|
|
NM_005629.4(SLC6A8):c.263-2A>G
|
rs1569539244
|
|
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del)
|
rs80338739
|
|
NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val)
|
rs122453117
|
|
NM_005629.4(SLC6A8):c.418_421dup (p.Val141fs)
|
rs2091455005
|
|
NM_005629.4(SLC6A8):c.444_445del (p.Ile149fs)
|
rs2148361002
|
|
NM_005629.4(SLC6A8):c.453_454insGCTGAGGCGGGAGAATCTCTTGAAGCCGGGAAGCAGAGGTTGCAGTGAACCGACATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAATAAATAAAAATAAAATAAAATAAAACAAGGTCTCATTCTCTTACCCAGGCTGGAGTGCAGTGGTACAATCAGAGCTCACCCCAGCCACAAACTCCTGGACTCAAGTGATCCTCCCACCTCAGCCTCCCTTGAATAGCTAGGACTACAAGTGTATGCCTCCAGGCCTGGCTAATTGTTTTTAATTTTTTGGTAGAGGCAGGGATCTCATTGTATTGCCCAGGCTGGGGTCCCAAACTCCTGATCACAAGTGAACCTCCTGCCTCAGCCTCTGAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCTCCCTGACAATTTCTGGCTGCATGGACTTCTGGTTACAAGCAGGGAAACTGAGGCCTGGATACAGCAAACAGGATCTGGCCCAGCTTTAAGTGGGGAACATGCAGTTTGGGGGACCCAGGCTCATGGTG (p.Leu152delinsAlaGluAlaGlyGluSerLeuGluAlaGlyLysGlnArgLeuGlnTer)
|
rs2148361006
|
|
NM_005629.4(SLC6A8):c.457dup (p.Ala153fs)
|
rs1603215013
|
|
NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs)
|
rs1557043770
|
|
NM_005629.4(SLC6A8):c.570_571del (p.Ala191fs)
|
rs1557044442
|
|
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs)
|
rs1603215223
|
|
NM_005629.4(SLC6A8):c.627del (p.Val210fs)
|
rs2148361177
|
|
NM_005629.4(SLC6A8):c.634G>T (p.Glu212Ter)
|
|
|
NM_005629.4(SLC6A8):c.635_636del (p.Glu212fs)
|
|
|
NM_005629.4(SLC6A8):c.699G>A (p.Trp233Ter)
|
rs2091458828
|
|
NM_005629.4(SLC6A8):c.728G>A (p.Trp243Ter)
|
|
|
NM_005629.4(SLC6A8):c.755del (p.Lys252fs)
|
|
|
NM_005629.4(SLC6A8):c.844del (p.Leu282fs)
|
rs2148362786
|
|
NM_005629.4(SLC6A8):c.856del (p.Leu286fs)
|
|
|
NM_005629.4(SLC6A8):c.859del (p.Asp287fs)
|
|
|
NM_005629.4(SLC6A8):c.878_879del (p.Leu293fs)
|
|
|
NM_005629.4(SLC6A8):c.913-1G>A
|
|
|
NM_005629.4(SLC6A8):c.942_944del (p.Phe315del)
|
rs2091467532
|
|
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs)
|
rs1603216806
|
|
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter)
|
rs1569539359
|
|
NM_005629.4(SLC6A8):c.967_970dup (p.Leu324fs)
|
|
|
NM_005629.4(SLC6A8):c.974_975del (p.Thr325fs)
|
rs1060502808
|
|
NM_005629.4(SLC6A8):c.980dup (p.Ser329fs)
|
rs2148362976
|
|
NM_005629.4(SLC6A8):c.[1429_1430delinsAG];[1429_1596+39del]
|
|
|
NM_005634.3(SOX3):c.711_731dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_005740.3(DNAL4):c.153+2T>C
|
rs606231254
|
|
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)
|
rs1376334317
|
|
NM_005862.3(STAG1):c.1433A>C (p.His478Pro)
|
rs1553722309
|
|
NM_005862.3(STAG1):c.1460_1464dup (p.Trp489fs)
|
rs1553722294
|
|
NM_005862.3(STAG1):c.1736dup (p.Ser580fs)
|
rs1553718528
|
|
NM_005862.3(STAG1):c.260del (p.Leu87fs)
|
rs1576656734
|
|
NM_005862.3(STAG1):c.391C>T (p.Arg131Ter)
|
rs1937166346
|
|
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly)
|
rs1553738686
|
|
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.6697C>T (p.Gln2233Ter)
|
rs587777672
|
|
NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val)
|
rs587777676
|
|
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
|
|
|
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs)
|
rs1575201712
|
|
NM_005886.3(KATNB1):c.1604C>T (p.Ser535Leu)
|
rs730880257
|
|
NM_005886.3(KATNB1):c.1619T>G (p.Leu540Arg)
|
rs730880258
|
|
NM_005886.3(KATNB1):c.1A>G (p.Met1Val)
|
rs879255518
|
|
NM_005886.3(KATNB1):c.432+1G>A
|
rs879255519
|
|
NM_005886.3(KATNB1):c.447del (p.Val150fs)
|
rs879255517
|
|
NM_005886.3(KATNB1):c.97G>T (p.Gly33Trp)
|
rs730880259
|
|
NM_005909.5(MAP1B):c.1594C>T (p.Gln532Ter)
|
rs1554054880
|
|
NM_005909.5(MAP1B):c.2035G>T (p.Glu679Ter)
|
rs371409009
|
|
NM_005909.5(MAP1B):c.2134del (p.Glu712fs)
|
rs1561314246
|
|
NM_005909.5(MAP1B):c.2995C>T (p.Arg999Ter)
|
|
|
NM_005909.5(MAP1B):c.3094G>T (p.Glu1032Ter)
|
rs1561315170
|
|
NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter)
|
rs1554055106
|
|
NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter)
|
rs1580026238
|
|
NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter)
|
rs1580027036
|
|
NM_005909.5(MAP1B):c.881del (p.Phe294fs)
|
|
|
NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter)
|
rs1554054831
|
|
NM_005957.5(MTHFR):c.1347+1G>A
|
|
|
NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter)
|
rs139645527
|
|
NM_005957.5(MTHFR):c.1530G>A (p.Lys510=)
|
rs765586205
|
|
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs)
|
rs764338697
|
|
NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter)
|
rs986604359
|
|
NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter)
|
rs786204030
|
|
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter)
|
rs1644092513
|
|
NM_005957.5(MTHFR):c.1752+1G>T
|
rs747846362
|
|
NM_005957.5(MTHFR):c.1768del (p.Leu590fs)
|
rs2100495241
|
|
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter)
|
rs776969786
|
|
NM_005957.5(MTHFR):c.237-2A>G
|
|
|
NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr)
|
rs147257424
|
|
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr)
|
rs1056919085
|
|
NM_005957.5(MTHFR):c.475+1G>T
|
rs748397580
|
|
NM_005957.5(MTHFR):c.781-1G>A
|
|
|
NM_005984.5(SLC25A1):c.205G>T (p.Asp69Tyr)
|
rs2083996886
|
|
NM_005993.5(TBCD):c.1006C>T (p.Gln336Ter)
|
|
|
NM_005993.5(TBCD):c.1160T>G (p.Met387Arg)
|
rs886041086
|
|
NM_005993.5(TBCD):c.1564-12C>G
|
rs886041084
|
|
NM_005993.5(TBCD):c.1661C>T (p.Ala554Val)
|
rs1555641324
|
|
NM_005993.5(TBCD):c.1876G>A (p.Ala626Thr)
|
rs749225304
|
|
NM_005993.5(TBCD):c.1957C>T (p.Gln653Ter)
|
rs2060355104
|
|
NM_005993.5(TBCD):c.2280C>A (p.Tyr760Ter)
|
rs754750539
|
|
NM_005993.5(TBCD):c.2693+1G>A
|
rs779861227
|
|
NM_005993.5(TBCD):c.2810C>G (p.Pro937Arg)
|
rs886041087
|
|
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr)
|
rs797046071
|
|
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys)
|
rs1064793286
|
|
NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His)
|
rs1064796460
|
|
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro)
|
rs1064796460
|
|
NM_006009.4(TUBA1A):c.1190T>C (p.Leu397Pro)
|
rs137853048
|
|
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)
|
rs587784483
|
|
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His)
|
rs137853044
|
|
NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu)
|
rs137853044
|
|
NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp)
|
rs1942163977
|
|
NM_006009.4(TUBA1A):c.1224C>A (p.Tyr408Ter)
|
rs753719501
|
|
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala)
|
rs797045005
|
|
NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu)
|
rs137853047
|
|
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys)
|
rs137853049
|
|
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)
|
rs137853050
|
|
NM_006009.4(TUBA1A):c.1288_1302del (p.Lys430_Glu434del)
|
rs2121241118
|
|
NM_006009.4(TUBA1A):c.13A>C (p.Ile5Leu)
|
rs387906840
|
|
NM_006009.4(TUBA1A):c.167C>T (p.Thr56Met)
|
rs1565627727
|
|
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala)
|
rs1565627795
|
|
NM_006009.4(TUBA1A):c.303T>A (p.Asn101Lys)
|
|
|
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met)
|
rs863224938
|
|
NM_006009.4(TUBA1A):c.431G>T (p.Gly144Val)
|
rs2121245032
|
|
NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp)
|
rs587784488
|
|
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu)
|
rs1565627304
|
|
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser)
|
rs1064795213
|
|
NM_006009.4(TUBA1A):c.545T>C (p.Val182Ala)
|
rs1942173367
|
|
NM_006009.4(TUBA1A):c.562A>C (p.Ile188Leu)
|
rs137853045
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006009.4(TUBA1A):c.637_640del (p.Cys213fs)
|
|
|
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)
|
rs1057517843
|
|
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)
|
rs1057517858
|
|
NM_006009.4(TUBA1A):c.701T>G (p.Ile234Ser)
|
rs1942171599
|
|
NM_006009.4(TUBA1A):c.787C>A (p.Pro263Thr)
|
rs137853046
|
|
NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly)
|
rs137853043
|
|
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys)
|
rs137853043
|
|
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His)
|
rs886043627
|
|
NM_006009.4(TUBA1A):c.878A>G (p.Asn293Ser)
|
rs1942169629
|
|
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys)
|
rs1942168488
|
|
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His)
|
rs1555162323
|
|
NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser)
|
rs587784495
|
|
NM_006015.6(ARID1A):c.6625C>T (p.Gln2209Ter)
|
|
|
NM_006017.3(PROM1):c.139del (p.His47fs)
|
rs747512450
|
|
NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs)
|
rs1300041533
|
|
NM_006017.3(PROM1):c.784+1G>A
|
rs745704627
|
|
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_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys)
|
rs1554786802
|
|
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His)
|
rs1554786803
|
|
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys)
|
rs863225080
|
|
NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser)
|
rs757369209
|
|
NM_006245.4(PPP2R5D):c.253C>T (p.Arg85Ter)
|
rs1762094766
|
|
NM_006245.4(PPP2R5D):c.434A>T (p.Lys145Met)
|
rs2150278470
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
NM_006245.4(PPP2R5D):c.602C>G (p.Pro201Arg)
|
rs876657383
|
|
NM_006245.4(PPP2R5D):c.619T>A (p.Trp207Arg)
|
rs869320691
|
|
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg)
|
rs869320691
|
|
NM_006245.4(PPP2R5D):c.620G>C (p.Trp207Ser)
|
rs2150278804
|
|
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)
|
rs1762136390
|
|
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)
|
rs1762178916
|
|
NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala)
|
rs1064794719
|
|
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val)
|
rs1064794719
|
|
NM_006245.4(PPP2R5D):c.758G>C (p.Arg253Pro)
|
rs1131691266
|
|
NM_006261.5(PROP1):c.109+1G>A
|
|
|
NM_006261.5(PROP1):c.109+1G>T
|
rs1214465435
|
|
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)
|
rs587776682
|
|
NM_006261.5(PROP1):c.150_151del (p.Gly52fs)
|
rs587776681
|
|
NM_006261.5(PROP1):c.263T>C (p.Phe88Ser)
|
rs121917841
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
NM_006261.5(PROP1):c.310del (p.Arg104fs)
|
rs786204663
|
|
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter)
|
rs140016178
|
|
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)
|
rs121917845
|
|
NM_006420.3(ARFGEF2):c.1072C>T (p.Gln358Ter)
|
rs1568711950
|
|
NM_006420.3(ARFGEF2):c.1492del (p.Met498fs)
|
rs1600623496
|
|
NM_006420.3(ARFGEF2):c.1958+1G>A
|
rs398122523
|
|
NM_006420.3(ARFGEF2):c.2638_2639delinsT (p.Pro880fs)
|
rs1555811929
|
|
NM_006420.3(ARFGEF2):c.4003G>T (p.Glu1335Ter)
|
|
|
NM_006420.3(ARFGEF2):c.[242C>A;247_249delinsTT]
|
|
|
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)
|
rs1567610917
|
|
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys)
|
rs1131691283
|
|
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys)
|
rs1555535156
|
|
NM_006565.4(CTCF):c.1117C>G (p.His373Asp)
|
rs2142847326
|
|
NM_006565.4(CTCF):c.1130G>A (p.Arg377His)
|
rs968244943
|
|
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu)
|
rs2142847512
|
|
NM_006565.4(CTCF):c.1186dup (p.Arg396fs)
|
rs879255571
|
|
NM_006565.4(CTCF):c.1223_1226del (p.Glu408fs)
|
rs2142849423
|
|
NM_006565.4(CTCF):c.1343G>A (p.Arg448Gln)
|
rs2142849782
|
|
NM_006565.4(CTCF):c.148dup (p.Val50fs)
|
rs2142823841
|
|
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)
|
rs879255516
|
|
NM_006565.4(CTCF):c.1990C>T (p.Gln664Ter)
|
rs200677445
|
|
NM_006565.4(CTCF):c.292_293del (p.Leu98fs)
|
rs2142824576
|
|
NM_006565.4(CTCF):c.329dup (p.Gly111fs)
|
rs2052056650
|
|
NM_006565.4(CTCF):c.375dup (p.Val126fs)
|
rs879255570
|
|
NM_006565.4(CTCF):c.615_618del (p.Lys206fs)
|
rs1555534147
|
|
NM_006565.4(CTCF):c.677A>G (p.Tyr226Cys)
|
rs2142826609
|
|
NM_006565.4(CTCF):c.688del (p.Glu230fs)
|
rs2142826656
|
|
NM_006565.4(CTCF):c.773_776del (p.Lys258fs)
|
rs1567608876
|
|
NM_006565.4(CTCF):c.778_781del (p.Lys260fs)
|
rs2052063931
|
|
NM_006565.4(CTCF):c.804_805del (p.Cys268_Glu269delinsTer)
|
rs2142828055
|
|
NM_006623.4(PHGDH):c.1A>C (p.Met1Leu)
|
|
|
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)
|
rs587777770
|
|
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln)
|
rs587777483
|
|
NM_006623.4(PHGDH):c.765del (p.Ala257fs)
|
|
|
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys)
|
rs587777774
|
|
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro)
|
rs587777775
|
|
NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]
|
|
|
NM_006731.2:c.911-24_911-23insN[1200]
|
|
|
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter)
|
rs2150886525
|
|
NM_006766.5(KAT6A):c.1146_1147insG (p.Tyr383fs)
|
rs2150886504
|
|
NM_006766.5(KAT6A):c.1312C>T (p.Arg438Ter)
|
rs2150886359
|
|
NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter)
|
rs2150884950
|
|
NM_006766.5(KAT6A):c.1663del (p.Gln555fs)
|
rs1822554467
|
|
NM_006766.5(KAT6A):c.1903-5_1903-2del
|
rs1587727050
|
|
NM_006766.5(KAT6A):c.1928A>G (p.Asn643Ser)
|
rs1822412202
|
|
NM_006766.5(KAT6A):c.2218del (p.Arg740fs)
|
rs1587723169
|
|
NM_006766.5(KAT6A):c.2463del (p.Asn821fs)
|
rs1661324893
|
|
NM_006766.5(KAT6A):c.2927del (p.Gly976fs)
|
|
|
NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter)
|
rs768856558
|
|
NM_006766.5(KAT6A):c.3039+1G>A
|
rs1554681382
|
|
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter)
|
rs786200961
|
|
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)
|
rs786200959
|
|
NM_006766.5(KAT6A):c.3306del (p.Lys1103fs)
|
rs1587713892
|
|
NM_006766.5(KAT6A):c.3318_3319insCT (p.Glu1107fs)
|
rs1587713866
|
|
NM_006766.5(KAT6A):c.3344_3350del (p.Asp1115fs)
|
|
|
NM_006766.5(KAT6A):c.3377del (p.Ser1126fs)
|
|
|
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)
|
rs786200960
|
|
NM_006766.5(KAT6A):c.3399_3400dup (p.Lys1134fs)
|
|
|
NM_006766.5(KAT6A):c.3443del (p.Lys1148fs)
|
rs1554680245
|
|
NM_006766.5(KAT6A):c.3631_3632del (p.Thr1210_Val1211insTer)
|
|
|
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter)
|
rs139494583
|
|
NM_006766.5(KAT6A):c.376A>T (p.Lys126Ter)
|
rs755669455
|
|
NM_006766.5(KAT6A):c.3820G>T (p.Glu1274Ter)
|
|
|
NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs)
|
|
|
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)
|
rs786200952
|
|
NM_006766.5(KAT6A):c.4038del (p.Val1347fs)
|
rs1564005155
|
|
NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter)
|
rs138944476
|
|
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs)
|
rs1554679889
|
|
NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs)
|
rs1057516049
|
|
NM_006766.5(KAT6A):c.4398_4399del (p.Gln1467fs)
|
rs2150856163
|
|
NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter)
|
rs1821661078
|
|
NM_006766.5(KAT6A):c.4980del (p.Gln1660fs)
|
|
|
NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs)
|
|
|
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter)
|
rs1395351821
|
|
NM_006766.5(KAT6A):c.805C>T (p.Arg269Ter)
|
rs1564039543
|
|
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter)
|
rs1564038539
|
|
NM_006766.5(KAT6A):c.907+1del
|
rs1564038389
|
|
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter)
|
rs1064793721
|
|
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter)
|
rs1554688879
|
|
NM_006766.5:c.3411del
|
rs2150857178
|
|
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_006901.4(MYO9A):c.4550G>A (p.Arg1517His)
|
rs149046541
|
|
NM_006901.4(MYO9A):c.6845G>A (p.Gly2282Glu)
|
rs1567176190
|
|
NM_006908.5(RAC1):c.116A>G (p.Asn39Ser)
|
|
|
NM_006908.5(RAC1):c.151G>A (p.Val51Met)
|
rs1554263625
|
|
NM_006908.5(RAC1):c.151G>C (p.Val51Leu)
|
rs1554263625
|
|
NM_006908.5(RAC1):c.181C>G (p.Gln61Glu)
|
|
|
NM_006908.5(RAC1):c.184G>A (p.Glu62Lys)
|
|
|
NM_006908.5(RAC1):c.190T>G (p.Tyr64Asp)
|
rs1554263626
|
|
NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys)
|
rs2115201389
|
|
NM_006908.5(RAC1):c.202C>A (p.Arg68Ser)
|
|
|
NM_006908.5(RAC1):c.202C>G (p.Arg68Gly)
|
|
|
NM_006908.5(RAC1):c.218C>T (p.Pro73Leu)
|
rs2115201441
|
|
NM_006908.5(RAC1):c.470G>A (p.Cys157Tyr)
|
rs1554264268
|
|
NM_006908.5(RAC1):c.475G>A (p.Ala159Thr)
|
|
|
NM_006908.5(RAC1):c.53G>A (p.Cys18Tyr)
|
rs1554263326
|
|
NM_006915.3(RP2):c.102+3A>C
|
rs1556313557
|
|
NM_006915.3(RP2):c.486_490del (p.Gly163fs)
|
rs1569531639
|
|
NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln)
|
rs1199412903
|
|
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_007118.4(TRIO):c.2302C>T (p.Gln768Ter)
|
rs1554062562
|
|
NM_007118.4(TRIO):c.298del (p.Arg100fs)
|
rs1735893497
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
|
|
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln)
|
rs1745369142
|
|
NM_007118.4(TRIO):c.3752del (p.Asp1251fs)
|
rs879255623
|
|
NM_007118.4(TRIO):c.3895G>A (p.Glu1299Lys)
|
rs1746763024
|
|
NM_007118.4(TRIO):c.4128G>A (p.Trp1376Ter)
|
rs879255622
|
|
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)
|
rs879255626
|
|
NM_007118.4(TRIO):c.4381C>A (p.Pro1461Thr)
|
rs879255627
|
|
NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg)
|
rs1747667518
|
|
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)
|
rs1747669042
|
|
NM_007118.4(TRIO):c.4406A>G (p.His1469Arg)
|
rs1554070777
|
|
NM_007118.4(TRIO):c.4466del (p.Gln1489fs)
|
rs879255625
|
|
NM_007118.4(TRIO):c.5203+1_5203+2dup
|
rs1749983541
|
|
NM_007118.4(TRIO):c.5491_5496+12del
|
|
|
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs)
|
rs752676391
|
|
NM_007118.4(TRIO):c.634G>T (p.Glu212Ter)
|
rs1057516029
|
|
NM_007118.4(TRIO):c.649A>T (p.Arg217Ter)
|
rs879255624
|
|
NM_007118.4(TRIO):c.7050dup (p.Val2351fs)
|
rs746654944
|
|
NM_007118.4(TRIO):c.838C>T (p.Gln280Ter)
|
rs2152285036
|
|
NM_007129.3:c.1148_1464del
|
|
|
NM_007129.4(ZIC2):c.177_178ins56
|
|
|
NM_007129.5(ZIC2):c.1042_1048del (p.Glu348fs)
|
rs397515365
|
|
NM_007129.5(ZIC2):c.1076-2A>T
|
rs1555332361
|
|
NM_007129.5(ZIC2):c.1085_1131del (p.Pro362fs)
|
rs1555332362
|
|
NM_007129.5(ZIC2):c.1091_1092del (p.Gln364fs)
|
rs397515500
|
|
NM_007129.5(ZIC2):c.1095_1096del (p.Cys365_Glu366delinsTer)
|
rs1060499562
|
|
NM_007129.5(ZIC2):c.1097_1098del (p.Glu366fs)
|
rs1060499564
|
|
NM_007129.5(ZIC2):c.1156del (p.Val386fs)
|
rs2152163567
|
|
NM_007129.5(ZIC2):c.1199_1207del (p.Lys400_Tyr402del)
|
|
|
NM_007129.5(ZIC2):c.1215del (p.Ser406fs)
|
rs1594291863
|
|
NM_007129.5(ZIC2):c.1317del (p.Leu440fs)
|
rs1594292057
|
|
NM_007129.5(ZIC2):c.1318dup (p.Leu440fs)
|
rs397515364
|
|
NM_007129.5(ZIC2):c.1366GCN[45] (p.Ala456[15])
|
|
|
NM_007129.5(ZIC2):c.1377_1406dup (p.Ala461_Ala470dup)
|
rs756225250
|
|
NM_007129.5(ZIC2):c.230_236delinsCA (p.Phe77fs)
|
rs2053238266
|
|
NM_007129.5(ZIC2):c.321del (p.Tyr108fs)
|
rs1555332212
|
|
NM_007129.5(ZIC2):c.397_403del (p.Gly133fs)
|
rs1594290658
|
|
NM_007129.5(ZIC2):c.722del (p.Gly241fs)
|
|
|
NM_007129.5(ZIC2):c.773G>A (p.Cys258Tyr)
|
|
|
NM_007129.5(ZIC2):c.793C>T (p.Gln265Ter)
|
rs1060499563
|
|
NM_007129.5(ZIC2):c.857_858del (p.His286fs)
|
rs2152162709
|
|
NM_007129.5(ZIC2):c.911G>A (p.Trp304Ter)
|
|
|
NM_007129.5(ZIC2):c.936del (p.Lys312fs)
|
rs397515499
|
|
NM_007129.5(ZIC2):c.973C>T (p.Arg325Cys)
|
rs2152162756
|
|
NM_007171.4(POMT1):c.429_430del
|
|
|
NM_007217.4(PDCD10):c.-117+6518_20del
|
|
|
NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter)
|
rs1057517786
|
|
NM_007217.4(PDCD10):c.131_132insTT (p.Leu44_Arg45insTer)
|
rs2108438340
|
|
NM_007217.4(PDCD10):c.131dup (p.Arg45fs)
|
rs2108438340
|
|
NM_007217.4(PDCD10):c.160G>T (p.Glu54Ter)
|
rs2108409609
|
|
NM_007217.4(PDCD10):c.160_161del (p.Glu54fs)
|
rs2108409594
|
|
NM_007217.4(PDCD10):c.160_163del (p.Glu54fs)
|
rs1553761266
|
|
NM_007217.4(PDCD10):c.164del (p.Asn55fs)
|
rs2108409560
|
|
NM_007217.4(PDCD10):c.178C>T (p.Gln60Ter)
|
rs1720895403
|
|
NM_007217.4(PDCD10):c.208A>T (p.Lys70Ter)
|
|
|
NM_007217.4(PDCD10):c.211del (p.Ser71fs)
|
rs2108409355
|
|
NM_007217.4(PDCD10):c.211dup (p.Ser71fs)
|
rs2108409355
|
|
NM_007217.4(PDCD10):c.229dup (p.Thr77fs)
|
|
|
NM_007217.4(PDCD10):c.243del (p.Arg82fs)
|
|
|
NM_007217.4(PDCD10):c.274_275del (p.Met92fs)
|
|
|
NM_007217.4(PDCD10):c.301C>T (p.Gln101Ter)
|
rs1303470125
|
|
NM_007217.4(PDCD10):c.322C>T (p.Arg108Ter)
|
rs1553760900
|
|
NM_007217.4(PDCD10):c.333del (p.Lys111fs)
|
rs1559952317
|
|
NM_007217.4(PDCD10):c.333dup (p.Gln112fs)
|
rs1559952317
|
|
NM_007217.4(PDCD10):c.334_337del (p.Gln112fs)
|
rs2108403745
|
|
NM_007217.4(PDCD10):c.385C>T (p.Gln129Ter)
|
rs1577329665
|
|
NM_007217.4(PDCD10):c.392_395del (p.Ile131fs)
|
|
|
NM_007217.4(PDCD10):c.394A>T (p.Lys132Ter)
|
rs1577329627
|
|
NM_007217.4(PDCD10):c.396-2A>C
|
|
|
NM_007217.4(PDCD10):c.418G>T (p.Glu140Ter)
|
rs1719762092
|
|
NM_007217.4(PDCD10):c.430dup (p.Thr144fs)
|
|
|
NM_007217.4(PDCD10):c.442_443del (p.Val148fs)
|
rs2108375192
|
|
NM_007217.4(PDCD10):c.456T>G (p.Tyr152Ter)
|
rs976585767
|
|
NM_007217.4(PDCD10):c.475-1G>A
|
rs1577317859
|
|
NM_007217.4(PDCD10):c.510C>G (p.Tyr170Ter)
|
rs1553759059
|
|
NM_007217.4(PDCD10):c.522_528del (p.Phe174fs)
|
rs2108373966
|
|
NM_007217.4(PDCD10):c.529dup (p.Thr177fs)
|
|
|
NM_007217.4(PDCD10):c.557+1G>A
|
rs747383685
|
|
NM_007217.4(PDCD10):c.557+1G>T
|
|
|
NM_007217.4(PDCD10):c.557+4_557+7del
|
rs1553759042
|
|
NM_007217.4(PDCD10):c.558-2A>C
|
rs1553758385
|
|
NM_007217.4(PDCD10):c.558-2A>G
|
rs1553758385
|
|
NM_007217.4(PDCD10):c.565_566del (p.Asn189fs)
|
rs1719352298
|
|
NM_007217.4(PDCD10):c.575dup (p.Ser193fs)
|
rs1559941951
|
|
NM_007217.4(PDCD10):c.576_579del (p.Ser193fs)
|
rs2108363227
|
|
NM_007217.4(PDCD10):c.584dup (p.Asn195fs)
|
rs1559941903
|
|
NM_007217.4(PDCD10):c.586C>T (p.Arg196Ter)
|
rs1404676956
|
|
NM_007217.4(PDCD10):c.592dup (p.Ile198fs)
|
|
|
NM_007217.4(PDCD10):c.62_71del (p.Pro21fs)
|
rs2108484048
|
|
NM_007217.4(PDCD10):c.68_69del (p.Tyr23fs)
|
|
|
NM_007217.4(PDCD10):c.97-1G>A
|
|
|
NM_007217.4(PDCD10):c.97_150del
|
rs2108438229
|
|
NM_007363.5(NONO):c.107del (p.Pro36fs)
|
rs1602385860
|
|
NM_007363.5(NONO):c.1093C>T (p.Arg365Ter)
|
rs869025345
|
|
NM_007363.5(NONO):c.1131G>A (p.Ala377=)
|
rs869025343
|
|
NM_007363.5(NONO):c.1171+1G>T
|
rs876661316
|
|
NM_007363.5(NONO):c.1171G>T (p.Gly391Cys)
|
rs1114167441
|
|
NM_007363.5(NONO):c.1394dup (p.Asn466fs)
|
rs869025344
|
|
NM_007363.5(NONO):c.154+1GT[2]
|
|
|
NM_007363.5(NONO):c.201_202dup (p.Lys68fs)
|
rs2148033408
|
|
NM_007363.5(NONO):c.279_282del (p.Phe94fs)
|
rs2148033495
|
|
NM_007363.5(NONO):c.298_307del (p.Ala100fs)
|
|
|
NM_007363.5(NONO):c.457C>T (p.Arg153Ter)
|
rs2031389522
|
|
NM_007363.5(NONO):c.550C>T (p.Arg184Ter)
|
rs1602387702
|
|
NM_007363.5(NONO):c.731dup (p.Asn244fs)
|
rs1555950011
|
|
NM_007374.3(SIX6):c.547G>C (p.Asp183His)
|
rs1594631582
|
|
NM_012064.4(MIP):c.97C>T (p.Arg33Cys)
|
rs864309693
|
|
NM_012090.5(MACF1):c.10617+444_15577-288del
|
|
|
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs)
|
rs80358295
|
|
NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter)
|
|
|
NM_012233.3(RAB3GAP1):c.1237-2A>G
|
rs1558792168
|
|
NM_012233.3(RAB3GAP1):c.1247del (p.Pro416fs)
|
|
|
NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter)
|
rs1558792256
|
|
NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter)
|
rs267606996
|
|
NM_012233.3(RAB3GAP1):c.1440_1441del (p.Trp481fs)
|
|
|
NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter)
|
rs1691647986
|
|
NM_012233.3(RAB3GAP1):c.1555-1G>A
|
rs1573584395
|
|
NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter)
|
rs137853053
|
|
NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter)
|
rs1573585099
|
|
NM_012233.3(RAB3GAP1):c.2011C>T (p.Arg671Ter)
|
rs137853052
|
|
NM_012233.3(RAB3GAP1):c.2037_2055dup (p.Phe686fs)
|
rs587777153
|
|
NM_012233.3(RAB3GAP1):c.2187_2188delinsCT (p.Met729_Lys730delinsIleTer)
|
rs2104983369
|
|
NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter)
|
rs1558805781
|
|
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter)
|
rs1558805900
|
|
NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter)
|
rs797045905
|
|
NM_012233.3(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs)
|
rs730882184
|
|
NM_012233.3(RAB3GAP1):c.2710-1G>A
|
|
|
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs)
|
rs730882182
|
|
NM_012233.3(RAB3GAP1):c.2853C>G (p.Tyr951Ter)
|
|
|
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter)
|
rs1553444644
|
|
NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter)
|
rs1558782178
|
|
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro)
|
rs587777154
|
|
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs)
|
rs1064794536
|
|
NM_012233.3(RAB3GAP1):c.649-2A>G
|
rs730882183
|
|
NM_012233.3(RAB3GAP1):c.659del (p.Pro219_Leu220insTer)
|
|
|
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val)
|
rs587777155
|
|
NM_012233.3(RAB3GAP1):c.748+1G>A
|
rs587776651
|
|
NM_012330.4(KAT6B):c.2408_2412del (p.Asn803fs)
|
|
|
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe)
|
rs878853243
|
|
NM_012414.4(RAB3GAP2):c.1348dup (p.Ser450fs)
|
|
|
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter)
|
rs587777168
|
|
NM_012414.4(RAB3GAP2):c.1998+1G>A
|
rs2102866054
|
|
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs)
|
rs1553275687
|
|
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGGTTTT (p.Gln789fs)
|
|
|
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter)
|
rs587777170
|
|
NM_012414.4(RAB3GAP2):c.340del (p.Met114fs)
|
|
|
NM_012414.4(RAB3GAP2):c.3613del (p.Met1205fs)
|
|
|
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter)
|
rs587777169
|
|
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del)
|
rs1553278569
|
|
NM_012414.4(RAB3GAP2):c.694C>T (p.Arg232Ter)
|
|
|
NM_013275.6(ANKRD11):c.-145+634_-145+1315del
|
rs2152385271
|
|
NM_013275.6(ANKRD11):c.-145+88_-145+103del
|
rs2152388054
|
|
NM_013275.6(ANKRD11):c.1232C>A (p.Ser411Ter)
|
rs1414996600
|
|
NM_013275.6(ANKRD11):c.1318C>T (p.Arg440Ter)
|
rs771973198
|
|
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter)
|
rs900492387
|
|
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs)
|
rs1597464953
|
|
NM_013275.6(ANKRD11):c.1385_1388del (p.Thr462fs)
|
rs2034559427
|
|
NM_013275.6(ANKRD11):c.1388_1389del (p.Lys463fs)
|
rs1555529726
|
|
NM_013275.6(ANKRD11):c.1459G>T (p.Glu487Ter)
|
rs2151764291
|
|
NM_013275.6(ANKRD11):c.1462_1463del (p.Ser488fs)
|
rs1555529645
|
|
NM_013275.6(ANKRD11):c.1477_1478del (p.Arg493fs)
|
rs1597464360
|
|
NM_013275.6(ANKRD11):c.1558del (p.Ala520fs)
|
rs2151763801
|
|
NM_013275.6(ANKRD11):c.1583dup (p.Ser528fs)
|
|
|
NM_013275.6(ANKRD11):c.160C>T (p.Arg54Ter)
|
rs749607205
|
|
NM_013275.6(ANKRD11):c.1616_1617del (p.Thr539fs)
|
|
|
NM_013275.6(ANKRD11):c.1621C>T (p.Gln541Ter)
|
rs1156815415
|
|
NM_013275.6(ANKRD11):c.1645_1648del (p.Asp549fs)
|
|
|
NM_013275.6(ANKRD11):c.1669C>G (p.Pro557Ala)
|
|
|
NM_013275.6(ANKRD11):c.1679C>G (p.Ser560Ter)
|
rs1555529551
|
|
NM_013275.6(ANKRD11):c.1731dup (p.Asp578Ter)
|
|
|
NM_013275.6(ANKRD11):c.1742_1743del (p.Ser580_Ser581insTer)
|
rs2151762916
|
|
NM_013275.6(ANKRD11):c.1800dup (p.Arg601fs)
|
rs2034524807
|
|
NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter)
|
rs772229371
|
|
NM_013275.6(ANKRD11):c.1893del (p.Lys631fs)
|
rs2151762237
|
|
NM_013275.6(ANKRD11):c.1896_1897del (p.His632fs)
|
rs2034516672
|
|
NM_013275.6(ANKRD11):c.1901_1904del (p.Thr634fs)
|
rs2151762177
|
|
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
|
rs886041125
|
|
NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter)
|
rs1567579525
|
|
NM_013275.6(ANKRD11):c.1976dup (p.Tyr659Ter)
|
rs2034511189
|
|
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)
|
rs749201074
|
|
NM_013275.6(ANKRD11):c.1984del (p.Glu662fs)
|
|
|
NM_013275.6(ANKRD11):c.2022dup (p.Glu675fs)
|
|
|
NM_013275.6(ANKRD11):c.2047_2048del (p.Lys683fs)
|
rs1567579092
|
|
NM_013275.6(ANKRD11):c.2054_2055del (p.Lys685fs)
|
rs2151761605
|
|
NM_013275.6(ANKRD11):c.2088dup (p.Glu697fs)
|
|
|
NM_013275.6(ANKRD11):c.2090_2091del (p.Glu697fs)
|
|
|
NM_013275.6(ANKRD11):c.2166dup (p.Asp723fs)
|
rs2151761217
|
|
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)
|
rs886039734
|
|
NM_013275.6(ANKRD11):c.2177_2178del (p.Lys726fs)
|
rs2151761128
|
|
NM_013275.6(ANKRD11):c.2184del (p.Ser729fs)
|
|
|
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)
|
rs886041791
|
|
NM_013275.6(ANKRD11):c.226+1G>A
|
rs2151869895
|
|
NM_013275.6(ANKRD11):c.2273_2274del (p.Leu758fs)
|
rs1597461334
|
|
NM_013275.6(ANKRD11):c.2273dup (p.Arg759fs)
|
rs2151760723
|
|
NM_013275.6(ANKRD11):c.2280_2281del (p.Tyr761fs)
|
|
|
NM_013275.6(ANKRD11):c.2288_2289del (p.Glu763fs)
|
rs2151760656
|
|
NM_013275.6(ANKRD11):c.2299A>T (p.Lys767Ter)
|
rs2034488113
|
|
NM_013275.6(ANKRD11):c.2305del (p.Ser769fs)
|
rs863223320
|
|
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)
|
rs1597461100
|
|
NM_013275.6(ANKRD11):c.2329_2332del (p.Glu777fs)
|
rs2034485034
|
|
NM_013275.6(ANKRD11):c.2350G>T (p.Glu784Ter)
|
rs2034483683
|
|
NM_013275.6(ANKRD11):c.2368G>T (p.Glu790Ter)
|
rs2151760280
|
|
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)
|
rs797045027
|
|
NM_013275.6(ANKRD11):c.2404_2407del (p.Leu802fs)
|
rs1555529181
|
|
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)
|
rs886039902
|
|
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs)
|
rs886039902
|
|
NM_013275.6(ANKRD11):c.2454dup (p.Asn819Ter)
|
rs1597460545
|
|
NM_013275.6(ANKRD11):c.249del (p.Arg84fs)
|
rs2035039338
|
|
NM_013275.6(ANKRD11):c.2512C>T (p.Arg838Ter)
|
rs2034471125
|
|
NM_013275.6(ANKRD11):c.2516_2517del (p.Asp839fs)
|
|
|
NM_013275.6(ANKRD11):c.2523G>A (p.Trp841Ter)
|
rs2151759503
|
|
NM_013275.6(ANKRD11):c.2536del (p.Ser846fs)
|
rs1597460246
|
|
NM_013275.6(ANKRD11):c.2607dup (p.Ser870fs)
|
|
|
NM_013275.6(ANKRD11):c.2615_2616del (p.Ser872fs)
|
rs2034464204
|
|
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs)
|
rs2034464059
|
|
NM_013275.6(ANKRD11):c.2647G>T (p.Glu883Ter)
|
rs1135401804
|
|
NM_013275.6(ANKRD11):c.2692C>T (p.Arg898Ter)
|
rs780011005
|
|
NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter)
|
rs1597459649
|
|
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)
|
rs929007085
|
|
NM_013275.6(ANKRD11):c.2751dup (p.Glu918Ter)
|
rs2034453469
|
|
NM_013275.6(ANKRD11):c.276_292del (p.Lys93fs)
|
|
|
NM_013275.6(ANKRD11):c.2793dup (p.Gly932fs)
|
rs2034450158
|
|
NM_013275.6(ANKRD11):c.2803dup (p.Ser935fs)
|
|
|
NM_013275.6(ANKRD11):c.2826_2829del (p.Arg942fs)
|
rs1597459077
|
|
NM_013275.6(ANKRD11):c.2828_2829del (p.Glu943fs)
|
|
|
NM_013275.6(ANKRD11):c.3024_3025dup (p.Lys1009fs)
|
|
|
NM_013275.6(ANKRD11):c.3066del (p.Thr1023fs)
|
rs2034426153
|
|
NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter)
|
rs1057518663
|
|
NM_013275.6(ANKRD11):c.3123_3126del (p.Ile1042fs)
|
|
|
NM_013275.6(ANKRD11):c.3127del (p.Leu1043fs)
|
rs2151756343
|
|
NM_013275.6(ANKRD11):c.3151_3152del (p.Glu1051fs)
|
|
|
NM_013275.6(ANKRD11):c.3198_3199del (p.His1066fs)
|
|
|
NM_013275.6(ANKRD11):c.3219_3220del (p.Asp1073fs)
|
rs2034416153
|
|
NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs)
|
rs1064794330
|
|
NM_013275.6(ANKRD11):c.3239_3240del (p.Leu1080fs)
|
|
|
NM_013275.6(ANKRD11):c.323del (p.Gly108fs)
|
|
|
NM_013275.6(ANKRD11):c.3240del (p.Asp1081fs)
|
|
|
NM_013275.6(ANKRD11):c.3309del (p.Asp1104fs)
|
rs772267579
|
|
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs)
|
rs772267579
|
|
NM_013275.6(ANKRD11):c.3319_3322del (p.Lys1107fs)
|
rs2151755532
|
|
NM_013275.6(ANKRD11):c.3367_3368del (p.Glu1122_Ser1123insTer)
|
rs2034404764
|
|
NM_013275.6(ANKRD11):c.3509_3512del (p.Lys1170fs)
|
|
|
NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter)
|
rs761848111
|
|
NM_013275.6(ANKRD11):c.3586_3587del (p.Asp1196fs)
|
|
|
NM_013275.6(ANKRD11):c.3603_3604del (p.Val1201_Phe1202insTer)
|
|
|
NM_013275.6(ANKRD11):c.3632_3633del (p.Lys1211fs)
|
rs1555528400
|
|
NM_013275.6(ANKRD11):c.3651C>A (p.Tyr1217Ter)
|
rs2034378960
|
|
NM_013275.6(ANKRD11):c.3693_3697del (p.Asp1231fs)
|
rs2151753736
|
|
NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs)
|
rs1555528354
|
|
NM_013275.6(ANKRD11):c.3708_3709del (p.Lys1237fs)
|
rs1567572265
|
|
NM_013275.6(ANKRD11):c.3768_3769del (p.His1256fs)
|
rs2034368063
|
|
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs)
|
rs886039477
|
|
NM_013275.6(ANKRD11):c.3770_3773del (p.Lys1257fs)
|
rs1567571990
|
|
NM_013275.6(ANKRD11):c.3779C>A (p.Ser1260Ter)
|
|
|
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs)
|
rs2151753260
|
|
NM_013275.6(ANKRD11):c.3812C>A (p.Ser1271Ter)
|
|
|
NM_013275.6(ANKRD11):c.3835dup (p.Ser1279fs)
|
|
|
NM_013275.6(ANKRD11):c.3843dup (p.Glu1282Ter)
|
rs2151753014
|
|
NM_013275.6(ANKRD11):c.3907del (p.Val1303fs)
|
|
|
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)
|
rs2034353033
|
|
NM_013275.6(ANKRD11):c.3933_3945del (p.Gly1312_Gln1313insTer)
|
rs2034351295
|
|
NM_013275.6(ANKRD11):c.3936dup (p.Gln1313fs)
|
|
|
NM_013275.6(ANKRD11):c.3948del (p.Gly1316_Leu1317insTer)
|
rs2034350757
|
|
NM_013275.6(ANKRD11):c.397+1G>A
|
rs2151797766
|
|
NM_013275.6(ANKRD11):c.4016dup (p.Cys1339fs)
|
|
|
NM_013275.6(ANKRD11):c.4055_4058del (p.His1352fs)
|
rs2151751963
|
|
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter)
|
rs1364690005
|
|
NM_013275.6(ANKRD11):c.4109_4124dup (p.Lys1376fs)
|
|
|
NM_013275.6(ANKRD11):c.4117A>T (p.Lys1373Ter)
|
|
|
NM_013275.6(ANKRD11):c.4148_4151del (p.Gly1383fs)
|
|
|
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter)
|
rs749632782
|
|
NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter)
|
rs764501022
|
|
NM_013275.6(ANKRD11):c.424C>T (p.Gln142Ter)
|
rs1567592494
|
|
NM_013275.6(ANKRD11):c.4261G>T (p.Glu1421Ter)
|
rs148501903
|
|
NM_013275.6(ANKRD11):c.4270del (p.Ser1424fs)
|
rs1597452422
|
|
NM_013275.6(ANKRD11):c.4306G>T (p.Glu1436Ter)
|
|
|
NM_013275.6(ANKRD11):c.4334dup (p.Pro1447fs)
|
|
|
NM_013275.6(ANKRD11):c.4369A>T (p.Lys1457Ter)
|
|
|
NM_013275.6(ANKRD11):c.4370_4371del (p.Lys1457fs)
|
rs2151750249
|
|
NM_013275.6(ANKRD11):c.4370_4373del (p.Lys1457fs)
|
|
|
NM_013275.6(ANKRD11):c.4381_4384del (p.Lys1461fs)
|
rs2034307984
|
|
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs)
|
rs886041521
|
|
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs)
|
rs1597451815
|
|
NM_013275.6(ANKRD11):c.4396_4397del (p.Arg1466fs)
|
rs2151750068
|
|
NM_013275.6(ANKRD11):c.439C>T (p.Gln147Ter)
|
|
|
NM_013275.6(ANKRD11):c.4489_4490del (p.Arg1497fs)
|
rs2151749530
|
|
NM_013275.6(ANKRD11):c.4742_4743insAT (p.Phe1583fs)
|
|
|
NM_013275.6(ANKRD11):c.4750G>T (p.Glu1584Ter)
|
rs2034272227
|
|
NM_013275.6(ANKRD11):c.4786G>T (p.Glu1596Ter)
|
rs2034270521
|
|
NM_013275.6(ANKRD11):c.4964_4965del (p.Lys1655fs)
|
|
|
NM_013275.6(ANKRD11):c.505G>T (p.Glu169Ter)
|
|
|
NM_013275.6(ANKRD11):c.5065del (p.Leu1689fs)
|
rs1567566026
|
|
NM_013275.6(ANKRD11):c.5117del (p.Pro1706fs)
|
rs2151746362
|
|
NM_013275.6(ANKRD11):c.5117dup (p.Thr1707fs)
|
rs2151746362
|
|
NM_013275.6(ANKRD11):c.5145C>G (p.Tyr1715Ter)
|
rs1298649064
|
|
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter)
|
rs2151745705
|
|
NM_013275.6(ANKRD11):c.5233_5234del (p.Ser1745fs)
|
rs2034218920
|
|
NM_013275.6(ANKRD11):c.5364C>G (p.Tyr1788Ter)
|
|
|
NM_013275.6(ANKRD11):c.5434C>T (p.Gln1812Ter)
|
|
|
NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter)
|
rs2034195603
|
|
NM_013275.6(ANKRD11):c.5438_5439insT (p.Gln1813fs)
|
rs2034195455
|
|
NM_013275.6(ANKRD11):c.5447del (p.Pro1816fs)
|
rs2151744307
|
|
NM_013275.6(ANKRD11):c.5494_5495del (p.Arg1832fs)
|
rs2151743944
|
|
NM_013275.6(ANKRD11):c.5504del (p.Leu1835fs)
|
rs1057519399
|
|
NM_013275.6(ANKRD11):c.5524A>T (p.Lys1842Ter)
|
|
|
NM_013275.6(ANKRD11):c.5550C>G (p.Tyr1850Ter)
|
rs2034182420
|
|
NM_013275.6(ANKRD11):c.5564_5565del (p.Tyr1855fs)
|
|
|
NM_013275.6(ANKRD11):c.5647_5651del (p.Phe1883fs)
|
rs2151742756
|
|
NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter)
|
rs1555526636
|
|
NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter)
|
rs2151742685
|
|
NM_013275.6(ANKRD11):c.5682dup (p.Arg1895fs)
|
rs1163944246
|
|
NM_013275.6(ANKRD11):c.568G>T (p.Glu190Ter)
|
rs2151796546
|
|
NM_013275.6(ANKRD11):c.5777dup (p.Glu1927fs)
|
rs1597443966
|
|
NM_013275.6(ANKRD11):c.5813_5817del (p.Pro1938fs)
|
|
|
NM_013275.6(ANKRD11):c.5833G>T (p.Glu1945Ter)
|
rs1184729090
|
|
NM_013275.6(ANKRD11):c.5859del (p.Ser1954fs)
|
rs2034143217
|
|
NM_013275.6(ANKRD11):c.5953_5954del (p.Gln1985fs)
|
rs863223321
|
|
NM_013275.6(ANKRD11):c.6015dup (p.Gly2006fs)
|
rs879253753
|
|
NM_013275.6(ANKRD11):c.6031_6041del (p.Ser2011fs)
|
rs1597441860
|
|
NM_013275.6(ANKRD11):c.6045C>A (p.Tyr2015Ter)
|
|
|
NM_013275.6(ANKRD11):c.6177del (p.Ser2060fs)
|
|
|
NM_013275.6(ANKRD11):c.618del (p.His206fs)
|
rs1597477691
|
|
NM_013275.6(ANKRD11):c.6197_6198delinsAA (p.Phe2066Ter)
|
rs1555525977
|
|
NM_013275.6(ANKRD11):c.6210_6211del (p.Lys2070fs)
|
rs863225257
|
|
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter)
|
rs763407068
|
|
NM_013275.6(ANKRD11):c.6218del (p.Pro2073fs)
|
rs1057518987
|
|
NM_013275.6(ANKRD11):c.6298_6299dup (p.Asn2100fs)
|
|
|
NM_013275.6(ANKRD11):c.6320dup (p.Gly2108fs)
|
rs2151737119
|
|
NM_013275.6(ANKRD11):c.6465del (p.Val2156fs)
|
|
|
NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter)
|
rs869312713
|
|
NM_013275.6(ANKRD11):c.6513del (p.Val2173fs)
|
rs1555525603
|
|
NM_013275.6(ANKRD11):c.6552_6558dup (p.Pro2187Ter)
|
rs2151735444
|
|
NM_013275.6(ANKRD11):c.6569_6609dup (p.Glu2204fs)
|
rs2151735043
|
|
NM_013275.6(ANKRD11):c.6596_6597insA (p.Ala2201fs)
|
rs2151735128
|
|
NM_013275.6(ANKRD11):c.6623C>A (p.Ser2208Ter)
|
rs2151734908
|
|
NM_013275.6(ANKRD11):c.6624_6625del (p.Glu2210fs)
|
rs1555525517
|
|
NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter)
|
rs1381957912
|
|
NM_013275.6(ANKRD11):c.6742C>T (p.Gln2248Ter)
|
rs1597435896
|
|
NM_013275.6(ANKRD11):c.6748_6757del (p.Pro2250fs)
|
|
|
NM_013275.6(ANKRD11):c.6772dup (p.Ala2258fs)
|
rs2151733753
|
|
NM_013275.6(ANKRD11):c.6786_6787insA (p.Pro2263fs)
|
rs1135401815
|
|
NM_013275.6(ANKRD11):c.6792del (p.Ala2265fs)
|
rs878855327
|
|
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs)
|
rs878855327
|
|
NM_013275.6(ANKRD11):c.6793del (p.Ala2265fs)
|
rs2151733504
|
|
NM_013275.6(ANKRD11):c.6807_6808del (p.Ala2270fs)
|
rs1597435393
|
|
NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs)
|
rs1555525296
|
|
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter)
|
rs1221781038
|
|
NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs)
|
rs2033996047
|
|
NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs)
|
rs1555525115
|
|
NM_013275.6(ANKRD11):c.6968_6975dup (p.Ala2326fs)
|
rs1555525115
|
|
NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)
|
|
|
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)
|
rs1555525088
|
|
NM_013275.6(ANKRD11):c.7048C>T (p.Gln2350Ter)
|
|
|
NM_013275.6(ANKRD11):c.7048_7050del (p.Gln2350del)
|
|
|
NM_013275.6(ANKRD11):c.7062dup (p.Ser2355fs)
|
rs886041942
|
|
NM_013275.6(ANKRD11):c.7103_7106del (p.Arg2368fs)
|
rs2033967776
|
|
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter)
|
rs2151730563
|
|
NM_013275.6(ANKRD11):c.7192C>T (p.Gln2398Ter)
|
rs1265287370
|
|
NM_013275.6(ANKRD11):c.7290C>G (p.Tyr2430Ter)
|
|
|
NM_013275.6(ANKRD11):c.7311_7314dup (p.Phe2439fs)
|
rs2033941632
|
|
NM_013275.6(ANKRD11):c.7327C>T (p.Gln2443Ter)
|
rs1555524861
|
|
NM_013275.6(ANKRD11):c.7433T>C (p.Leu2478Pro)
|
|
|
NM_013275.6(ANKRD11):c.744+1G>T
|
|
|
NM_013275.6(ANKRD11):c.7470+1G>C
|
rs2151728882
|
|
NM_013275.6(ANKRD11):c.7470+5G>C
|
|
|
NM_013275.6(ANKRD11):c.7481C>G (p.Pro2494Arg)
|
rs2151703550
|
|
NM_013275.6(ANKRD11):c.7519C>T (p.Gln2507Ter)
|
rs572878194
|
|
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)
|
rs2033536147
|
|
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)
|
rs2033535934
|
|
NM_013275.6(ANKRD11):c.7569+1G>A
|
rs797044890
|
|
NM_013275.6(ANKRD11):c.7570-1G>C
|
rs863223319
|
|
NM_013275.6(ANKRD11):c.7571A>G (p.Glu2524Gly)
|
rs2033513257
|
|
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp)
|
rs2151701893
|
|
NM_013275.6(ANKRD11):c.7617_7629del (p.His2538_Cys2539insTer)
|
rs2151701755
|
|
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)
|
|
|
NM_013275.6(ANKRD11):c.7806+1G>T
|
rs2151675590
|
|
NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter)
|
rs797044900
|
|
NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter)
|
rs761636251
|
|
NM_013275.6(ANKRD11):c.893-1G>C
|
rs1567583835
|
|
NM_013275.6(ANKRD11):c.894_916del (p.Glu298fs)
|
rs2034595868
|
|
NM_013275.6(ANKRD11):c.928_934del (p.Pro310fs)
|
|
|
NM_013275.6(ANKRD11):c.980_993del (p.Leu327fs)
|
rs2151766539
|
|
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.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.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_013403.3(STRN4):c.282+78C>T
|
rs1555735545
|
|
NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys)
|
rs863225429
|
|
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)
|
rs863225428
|
|
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)
|
rs1057523157
|
|
NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs)
|
rs587779356
|
|
NM_014171.6(CRIPT):c.141del (p.Phe47fs)
|
rs587779348
|
|
NM_014231.5(VAMP1):c.128_129del (p.Glu43fs)
|
rs1565527140
|
|
NM_014231.5(VAMP1):c.129+1G>A
|
rs1565527137
|
|
NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro)
|
rs754046104
|
|
NM_014231.5(VAMP1):c.340del (p.Ile114fs)
|
rs746220436
|
|
NM_014231.5(VAMP1):c.51_64del (p.Gly18fs)
|
rs1565527239
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs)
|
rs574936510
|
|
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_014324.6(AMACR):c.320T>C (p.Leu107Pro)
|
rs121917816
|
|
NM_014336.3(AIPL1):c.1-1795del
|
rs1913249761
|
|
NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs)
|
rs62637016
|
|
NM_014336.5(AIPL1):c.104_105insG (p.Phe35fs)
|
rs1912920081
|
|
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)
|
rs281865195
|
|
NM_014336.5(AIPL1):c.105_106insGTGATCTT (p.His36fs)
|
rs1912919808
|
|
NM_014336.5(AIPL1):c.142_145del (p.Val48fs)
|
|
|
NM_014336.5(AIPL1):c.152A>G (p.Asp51Gly)
|
|
|
NM_014336.5(AIPL1):c.1A>G (p.Met1Val)
|
|
|
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe)
|
rs775364986
|
|
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)
|
rs1468041544
|
|
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp)
|
rs748210823
|
|
NM_014336.5(AIPL1):c.289_292del (p.Tyr97fs)
|
|
|
NM_014336.5(AIPL1):c.294del (p.Ile99fs)
|
rs1597331616
|
|
NM_014336.5(AIPL1):c.2T>C (p.Met1Thr)
|
|
|
NM_014336.5(AIPL1):c.325C>T (p.Gln109Ter)
|
rs1912228419
|
|
NM_014336.5(AIPL1):c.34dup (p.Val12fs)
|
rs752193525
|
|
NM_014336.5(AIPL1):c.364G>A (p.Gly122Arg)
|
|
|
NM_014336.5(AIPL1):c.454G>T (p.Glu152Ter)
|
|
|
NM_014336.5(AIPL1):c.465G>T (p.Gln155His)
|
rs758001091
|
|
NM_014336.5(AIPL1):c.466-1G>C
|
rs1567637467
|
|
NM_014336.5(AIPL1):c.487C>T (p.Gln163Ter)
|
rs62637009
|
|
NM_014336.5(AIPL1):c.488_498del (p.Gln163fs)
|
rs2150678060
|
|
NM_014336.5(AIPL1):c.512dup (p.Asn171fs)
|
rs1912058703
|
|
NM_014336.5(AIPL1):c.547G>T (p.Gly183Ter)
|
rs374255033
|
|
NM_014336.5(AIPL1):c.572T>C (p.Leu191Pro)
|
|
|
NM_014336.5(AIPL1):c.582C>G (p.Tyr194Ter)
|
rs368845643
|
|
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro)
|
rs62637010
|
|
NM_014336.5(AIPL1):c.597dup (p.Lys200fs)
|
rs1283508592
|
|
NM_014336.5(AIPL1):c.59del (p.Gly20fs)
|
|
|
NM_014336.5(AIPL1):c.621C>A (p.Cys207Ter)
|
|
|
NM_014336.5(AIPL1):c.643-2A>T
|
rs2150677132
|
|
NM_014336.5(AIPL1):c.665G>A (p.Trp222Ter)
|
rs1912011058
|
|
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg)
|
rs62637012
|
|
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro)
|
rs751881283
|
|
NM_014336.5(AIPL1):c.778dup (p.His260fs)
|
|
|
NM_014336.5(AIPL1):c.785-10_786del
|
rs1911894399
|
|
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)
|
rs1284009768
|
|
NM_014336.5(AIPL1):c.826G>T (p.Glu276Ter)
|
rs2150674982
|
|
NM_014336.5(AIPL1):c.867dup (p.Val290fs)
|
|
|
NM_014336.5(AIPL1):c.88G>T (p.Gly30Ter)
|
|
|
NM_014336.5(AIPL1):c.96+4A>T
|
rs772417830
|
|
NM_014495.4(ANGPTL3):c.363_367del (p.Asn121fs)
|
rs398122988
|
|
NM_014795.3(ZEB2):c.(?_-522)_(*5076_?)del
|
|
|
NM_014795.3(ZEB2):c.3068-?_(*5076_?)del
|
|
|
NM_014795.3(ZEB2):c.404-?_(*5076_?)del
|
|
|
NM_014795.3:c.1439_1440insAlu
|
|
|
NM_014795.4(ZEB2):c.-69-1G>A
|
rs587776612
|
|
NM_014795.4(ZEB2):c.1017del (p.Ser339_Val340insTer)
|
rs1573717685
|
|
NM_014795.4(ZEB2):c.101_102del (p.Thr34fs)
|
|
|
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter)
|
rs786204815
|
|
NM_014795.4(ZEB2):c.1038_1039del (p.Asn346fs)
|
rs2149877500
|
|
NM_014795.4(ZEB2):c.1052del (p.Gly351fs)
|
rs2149877492
|
|
NM_014795.4(ZEB2):c.1077_1081del (p.Ser360fs)
|
rs1703290664
|
|
NM_014795.4(ZEB2):c.1102C>T (p.Gln368Ter)
|
rs886041338
|
|
NM_014795.4(ZEB2):c.1106T>A (p.Leu369Ter)
|
rs797046117
|
|
NM_014795.4(ZEB2):c.1161dup (p.Leu388fs)
|
|
|
NM_014795.4(ZEB2):c.1170del (p.Thr392fs)
|
rs2149877432
|
|
NM_014795.4(ZEB2):c.1172_1182delinsTGACTTAAAATTAATG (p.Lys391_Pro394delinsMetThrTer)
|
rs786204805
|
|
NM_014795.4(ZEB2):c.1173_1176del (p.Thr392fs)
|
rs587776603
|
|
NM_014795.4(ZEB2):c.1200_1201del (p.Tyr400_Lys401delinsTer)
|
rs2149877421
|
|
NM_014795.4(ZEB2):c.1209del (p.Met404fs)
|
rs2149877416
|
|
NM_014795.4(ZEB2):c.1218del (p.His407fs)
|
rs727504226
|
|
NM_014795.4(ZEB2):c.1242_1249del (p.Phe415fs)
|
rs2149877380
|
|
NM_014795.4(ZEB2):c.1257del (p.Gly421fs)
|
rs786204801
|
|
NM_014795.4(ZEB2):c.1277T>A (p.Leu426Ter)
|
rs786204807
|
|
NM_014795.4(ZEB2):c.1277T>G (p.Leu426Ter)
|
rs786204807
|
|
NM_014795.4(ZEB2):c.1309C>T (p.Gln437Ter)
|
rs760437173
|
|
NM_014795.4(ZEB2):c.1342del (p.Thr452fs)
|
|
|
NM_014795.4(ZEB2):c.1349_1350del (p.Phe450fs)
|
|
|
NM_014795.4(ZEB2):c.1364del (p.Ser455fs)
|
|
|
NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter)
|
rs398124274
|
|
NM_014795.4(ZEB2):c.1387del (p.Val463fs)
|
rs1573717173
|
|
NM_014795.4(ZEB2):c.1416_1420del (p.Arg473fs)
|
rs786204814
|
|
NM_014795.4(ZEB2):c.1420C>T (p.Gln474Ter)
|
rs2149877279
|
|
NM_014795.4(ZEB2):c.1426dup (p.Met476fs)
|
rs587776604
|
|
NM_014795.4(ZEB2):c.1434C>A (p.Cys478Ter)
|
rs756778602
|
|
NM_014795.4(ZEB2):c.1474A>T (p.Lys492Ter)
|
|
|
NM_014795.4(ZEB2):c.1489C>T (p.Gln497Ter)
|
rs1553961702
|
|
NM_014795.4(ZEB2):c.1541_1542insA (p.Val515fs)
|
rs1553961695
|
|
NM_014795.4(ZEB2):c.1541_1548del (p.Pro514fs)
|
rs1703280501
|
|
NM_014795.4(ZEB2):c.1556del (p.Asn519fs)
|
rs1703280349
|
|
NM_014795.4(ZEB2):c.1564del (p.Thr522fs)
|
|
|
NM_014795.4(ZEB2):c.1570dup (p.Ser524fs)
|
rs1560606974
|
|
NM_014795.4(ZEB2):c.1578_1579delinsA (p.Asp527fs)
|
|
|
NM_014795.4(ZEB2):c.1630_1631del (p.Thr544fs)
|
rs2149877154
|
|
NM_014795.4(ZEB2):c.1631_1635dup (p.Asp546fs)
|
|
|
NM_014795.4(ZEB2):c.1645A>T (p.Arg549Ter)
|
rs137852980
|
|
NM_014795.4(ZEB2):c.1653del (p.Ser552fs)
|
rs786204820
|
|
NM_014795.4(ZEB2):c.1687del (p.Leu562_Ile563insTer)
|
rs786204819
|
|
NM_014795.4(ZEB2):c.1700_1703del (p.Thr567fs)
|
|
|
NM_014795.4(ZEB2):c.1700_1703dup (p.Asp568_Asp569insTer)
|
rs2149877112
|
|
NM_014795.4(ZEB2):c.1747del (p.Cys583fs)
|
rs2149877082
|
|
NM_014795.4(ZEB2):c.1749C>A (p.Cys583Ter)
|
rs786204808
|
|
NM_014795.4(ZEB2):c.1754del (p.Phe585fs)
|
rs786204809
|
|
NM_014795.4(ZEB2):c.1770del (p.Pro591fs)
|
rs1703277223
|
|
NM_014795.4(ZEB2):c.178_190delinsGTT (p.Thr60fs)
|
rs730881215
|
|
NM_014795.4(ZEB2):c.1848del (p.His617fs)
|
rs2149877032
|
|
NM_014795.4(ZEB2):c.1862del (p.Val621fs)
|
rs587776611
|
|
NM_014795.4(ZEB2):c.1866dup (p.Asn623fs)
|
rs2149877017
|
|
NM_014795.4(ZEB2):c.1870A>T (p.Lys624Ter)
|
|
|
NM_014795.4(ZEB2):c.1876G>T (p.Gly626Ter)
|
rs727504224
|
|
NM_014795.4(ZEB2):c.1884del (p.Phe628fs)
|
rs786204811
|
|
NM_014795.4(ZEB2):c.1892del (p.Asn631fs)
|
rs587776607
|
|
NM_014795.4(ZEB2):c.1907dup (p.Leu636fs)
|
|
|
NM_014795.4(ZEB2):c.1910C>A (p.Ser637Ter)
|
|
|
NM_014795.4(ZEB2):c.1944del (p.Ile649fs)
|
rs786204803
|
|
NM_014795.4(ZEB2):c.194_195del (p.Val65fs)
|
rs1573743951
|
|
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter)
|
rs587784563
|
|
NM_014795.4(ZEB2):c.1966_1967del (p.Met656fs)
|
rs786204818
|
|
NM_014795.4(ZEB2):c.198del (p.Asn67fs)
|
|
|
NM_014795.4(ZEB2):c.2024del (p.Leu675fs)
|
|
|
NM_014795.4(ZEB2):c.2038_2152dup (p.Asn718delinsSerCysGlyProSerSerGlyIleCysGluGlyMetValTer)
|
rs1553961598
|
|
NM_014795.4(ZEB2):c.2056G>T (p.Glu686Ter)
|
rs2149876873
|
|
NM_014795.4(ZEB2):c.2061del (p.Phe687fs)
|
rs797046118
|
|
NM_014795.4(ZEB2):c.2064del (p.Lys689fs)
|
rs2149876861
|
|
NM_014795.4(ZEB2):c.2072G>A (p.Trp691Ter)
|
rs1553961610
|
|
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)
|
rs137852981
|
|
NM_014795.4(ZEB2):c.2087_2088del (p.Lys696fs)
|
|
|
NM_014795.4(ZEB2):c.2095C>T (p.Gln699Ter)
|
rs1573716158
|
|
NM_014795.4(ZEB2):c.20_21insT (p.Asp8fs)
|
rs786204802
|
|
NM_014795.4(ZEB2):c.2122del (p.Leu708fs)
|
rs2149876829
|
|
NM_014795.4(ZEB2):c.2177_2178del (p.Ser726fs)
|
rs1703269824
|
|
NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs)
|
rs786204821
|
|
NM_014795.4(ZEB2):c.2179_2180del (p.Leu727fs)
|
rs786204810
|
|
NM_014795.4(ZEB2):c.2180T>A (p.Leu727Ter)
|
|
|
NM_014795.4(ZEB2):c.2211_2214dup (p.Ile739fs)
|
rs1553961585
|
|
NM_014795.4(ZEB2):c.2227del (p.Ser743fs)
|
rs1553961580
|
|
NM_014795.4(ZEB2):c.2228_2229del (p.Ser743fs)
|
rs730881211
|
|
NM_014795.4(ZEB2):c.2242dup (p.His748fs)
|
|
|
NM_014795.4(ZEB2):c.2254dup (p.Thr752fs)
|
|
|
NM_014795.4(ZEB2):c.227_233del (p.Gln76fs)
|
rs786204812
|
|
NM_014795.4(ZEB2):c.2303del (p.Asn768fs)
|
rs1703267358
|
|
NM_014795.4(ZEB2):c.2337del (p.Ser780fs)
|
rs1560606294
|
|
NM_014795.4(ZEB2):c.234_235del (p.Leu79fs)
|
rs1553964147
|
|
NM_014795.4(ZEB2):c.2357dup (p.Leu786fs)
|
|
|
NM_014795.4(ZEB2):c.236_239del (p.Leu78_Leu79insTer)
|
rs1560620837
|
|
NM_014795.4(ZEB2):c.2374dup (p.Ser792fs)
|
rs2149876649
|
|
NM_014795.4(ZEB2):c.2404_2407del (p.Thr802fs)
|
rs797046119
|
|
NM_014795.4(ZEB2):c.2425G>T (p.Glu809Ter)
|
rs1703265228
|
|
NM_014795.4(ZEB2):c.2453dup (p.Leu818fs)
|
rs587776606
|
|
NM_014795.4(ZEB2):c.2476G>T (p.Glu826Ter)
|
|
|
NM_014795.4(ZEB2):c.2501del (p.Lys834fs)
|
rs587784565
|
|
NM_014795.4(ZEB2):c.2531T>G (p.Leu844Ter)
|
|
|
NM_014795.4(ZEB2):c.2555C>G (p.Ser852Ter)
|
rs137852982
|
|
NM_014795.4(ZEB2):c.2577dup (p.Leu860fs)
|
|
|
NM_014795.4(ZEB2):c.2592del (p.Phe864fs)
|
rs2149876500
|
|
NM_014795.4(ZEB2):c.2630dup (p.Asn877fs)
|
|
|
NM_014795.4(ZEB2):c.2635_2649delinsTAA (p.Ser879_Val883delinsTer)
|
|
|
NM_014795.4(ZEB2):c.2645dup (p.Val883fs)
|
|
|
NM_014795.4(ZEB2):c.2672_2678del (p.Ala891fs)
|
rs878855329
|
|
NM_014795.4(ZEB2):c.2682del (p.Leu894fs)
|
|
|
NM_014795.4(ZEB2):c.2687_2688dup (p.Ala897fs)
|
rs786204804
|
|
NM_014795.4(ZEB2):c.2688dup (p.Ala897fs)
|
rs1553961510
|
|
NM_014795.4(ZEB2):c.2701C>T (p.Gln901Ter)
|
rs794727924
|
|
NM_014795.4(ZEB2):c.2717del (p.Pro906fs)
|
rs2149876411
|
|
NM_014795.4(ZEB2):c.2718del (p.Ala907fs)
|
|
|
NM_014795.4(ZEB2):c.2745del (p.Ser916fs)
|
rs2149876398
|
|
NM_014795.4(ZEB2):c.274G>T (p.Gly92Ter)
|
|
|
NM_014795.4(ZEB2):c.2757del (p.Leu920fs)
|
rs1560605892
|
|
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)
|
rs587784566
|
|
NM_014795.4(ZEB2):c.2769C>A (p.Tyr923Ter)
|
|
|
NM_014795.4(ZEB2):c.2769C>G (p.Tyr923Ter)
|
|
|
NM_014795.4(ZEB2):c.2806del (p.Ala936fs)
|
rs1553961487
|
|
NM_014795.4(ZEB2):c.2856del (p.Arg953fs)
|
|
|
NM_014795.4(ZEB2):c.2886+1G>A
|
rs1703257054
|
|
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter)
|
rs797046120
|
|
NM_014795.4(ZEB2):c.289del (p.Trp97fs)
|
rs727503784
|
|
NM_014795.4(ZEB2):c.2958_2961del (p.Ser987fs)
|
rs1703231612
|
|
NM_014795.4(ZEB2):c.2996_3003del (p.Met998_Tyr999insTer)
|
rs1573713477
|
|
NM_014795.4(ZEB2):c.3002del (p.Cys1001fs)
|
rs730881212
|
|
NM_014795.4(ZEB2):c.3025C>T (p.Gln1009Ter)
|
rs1560604977
|
|
NM_014795.4(ZEB2):c.3031del (p.Ser1011fs)
|
|
|
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)
|
rs886041989
|
|
NM_014795.4(ZEB2):c.3056dup (p.Tyr1019Ter)
|
|
|
NM_014795.4(ZEB2):c.3073del (p.Arg1025fs)
|
rs730881217
|
|
NM_014795.4(ZEB2):c.3077_3084dup (p.Cys1029fs)
|
|
|
NM_014795.4(ZEB2):c.3094del (p.Cys1032fs)
|
rs2149872716
|
|
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs)
|
rs1060500653
|
|
NM_014795.4(ZEB2):c.3100_3103del (p.Lys1034fs)
|
|
|
NM_014795.4(ZEB2):c.3109A>T (p.Lys1037Ter)
|
rs1553960793
|
|
NM_014795.4(ZEB2):c.310C>T (p.Gln104Ter)
|
rs753880265
|
|
NM_014795.4(ZEB2):c.3134A>G (p.His1045Arg)
|
rs397515449
|
|
NM_014795.4(ZEB2):c.3134A>T (p.His1045Leu)
|
|
|
NM_014795.4(ZEB2):c.3134del (p.His1045fs)
|
rs2149872686
|
|
NM_014795.4(ZEB2):c.3137C>A (p.Ser1046Ter)
|
rs797046121
|
|
NM_014795.4(ZEB2):c.313del (p.Ala105fs)
|
rs2149891139
|
|
NM_014795.4(ZEB2):c.3154G>T (p.Glu1052Ter)
|
rs2149872664
|
|
NM_014795.4(ZEB2):c.3161_3162del (p.Pro1054fs)
|
|
|
NM_014795.4(ZEB2):c.3166C>T (p.Gln1056Ter)
|
|
|
NM_014795.4(ZEB2):c.3170G>A (p.Cys1057Tyr)
|
rs1135401790
|
|
NM_014795.4(ZEB2):c.3195dup (p.His1066fs)
|
rs730881213
|
|
NM_014795.4(ZEB2):c.3198_3202del (p.His1066fs)
|
rs2149872642
|
|
NM_014795.4(ZEB2):c.31del (p.Arg11fs)
|
rs2149935159
|
|
NM_014795.4(ZEB2):c.3203del (p.Gly1068fs)
|
|
|
NM_014795.4(ZEB2):c.3206C>A (p.Ser1069Ter)
|
rs1553960778
|
|
NM_014795.4(ZEB2):c.3208_3209insGA (p.Tyr1070Ter)
|
rs2149872634
|
|
NM_014795.4(ZEB2):c.3210C>A (p.Tyr1070Ter)
|
|
|
NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro)
|
rs397515448
|
|
NM_014795.4(ZEB2):c.3213_3214insGG (p.Gln1072fs)
|
|
|
NM_014795.4(ZEB2):c.3242G>A (p.Cys1081Tyr)
|
rs2149872616
|
|
NM_014795.4(ZEB2):c.331+1G>T
|
rs1703742764
|
|
NM_014795.4(ZEB2):c.3356A>G (p.Gln1119Arg)
|
rs137852983
|
|
NM_014795.4(ZEB2):c.3359_3364delinsTAATG (p.Gly1120fs)
|
rs398124280
|
|
NM_014795.4(ZEB2):c.3391_3400del (p.Pro1131fs)
|
rs786204816
|
|
NM_014795.4(ZEB2):c.3499del (p.Ser1167fs)
|
rs730881218
|
|
NM_014795.4(ZEB2):c.351T>A (p.Tyr117Ter)
|
rs1560618505
|
|
NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs)
|
rs587776609
|
|
NM_014795.4(ZEB2):c.425C>G (p.Ser142Ter)
|
|
|
NM_014795.4(ZEB2):c.425_429del (p.Ser142fs)
|
rs1573722407
|
|
NM_014795.4(ZEB2):c.432dup (p.Glu145Ter)
|
rs1560609810
|
|
NM_014795.4(ZEB2):c.460del (p.Glu154fs)
|
rs786204817
|
|
NM_014795.4(ZEB2):c.463G>T (p.Glu155Ter)
|
|
|
NM_014795.4(ZEB2):c.477_484del (p.His159fs)
|
|
|
NM_014795.4(ZEB2):c.481del (p.Val161fs)
|
rs1553962198
|
|
NM_014795.4(ZEB2):c.484_486delinsGCCTCGCTAACCTCGCCTTACCCCCCACTATTAACCTACTGGGAGAACTCTCTGTGCTAGTAACCACGTTCTCCTGATCAAATATCACTCTCCTACTTACAGGACTCAACATACTAGTCACAGCCCT (p.Ser162delinsAlaSerLeuThrSerProTyrProProLeuLeuThrTyrTrpGluAsnSerLeuCysTer)
|
rs2149879709
|
|
NM_014795.4(ZEB2):c.493G>T (p.Glu165Ter)
|
rs1314954470
|
|
NM_014795.4(ZEB2):c.502C>T (p.Gln168Ter)
|
rs1560609721
|
|
NM_014795.4(ZEB2):c.540del (p.Glu181fs)
|
|
|
NM_014795.4(ZEB2):c.550_568del (p.Ser184fs)
|
rs587784568
|
|
NM_014795.4(ZEB2):c.553_554insTG (p.Arg185fs)
|
rs587776608
|
|
NM_014795.4(ZEB2):c.585del (p.Glu196fs)
|
rs1573722122
|
|
NM_014795.4(ZEB2):c.621dup (p.Ala208fs)
|
|
|
NM_014795.4(ZEB2):c.625C>T (p.Gln209Ter)
|
rs527679524
|
|
NM_014795.4(ZEB2):c.643_659del (p.Tyr215fs)
|
rs398124281
|
|
NM_014795.4(ZEB2):c.650_653dup (p.Gly219fs)
|
|
|
NM_014795.4(ZEB2):c.656del (p.Gly219fs)
|
rs1573721242
|
|
NM_014795.4(ZEB2):c.660C>G (p.Tyr220Ter)
|
rs111724246
|
|
NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter)
|
rs797046122
|
|
NM_014795.4(ZEB2):c.67A>T (p.Lys23Ter)
|
rs1705170374
|
|
NM_014795.4(ZEB2):c.696C>A (p.Tyr232Ter)
|
rs1060503990
|
|
NM_014795.4(ZEB2):c.696C>G (p.Tyr232Ter)
|
|
|
NM_014795.4(ZEB2):c.703G>T (p.Glu235Ter)
|
rs1553962069
|
|
NM_014795.4(ZEB2):c.703del (p.Glu235fs)
|
rs786204806
|
|
NM_014795.4(ZEB2):c.712G>T (p.Glu238Ter)
|
rs2149879206
|
|
NM_014795.4(ZEB2):c.715del (p.Glu239fs)
|
|
|
NM_014795.4(ZEB2):c.71del (p.Asn24fs)
|
rs1553971826
|
|
NM_014795.4(ZEB2):c.71dup (p.Asn24fs)
|
rs1553971826
|
|
NM_014795.4(ZEB2):c.73+1G>A
|
rs2149935109
|
|
NM_014795.4(ZEB2):c.73+1del
|
rs786204813
|
|
NM_014795.4(ZEB2):c.73+2T>C
|
rs398124282
|
|
NM_014795.4(ZEB2):c.760_761dup (p.Gln255fs)
|
rs587776605
|
|
NM_014795.4(ZEB2):c.769G>T (p.Glu257Ter)
|
rs1703347173
|
|
NM_014795.4(ZEB2):c.770_771del (p.Glu257fs)
|
rs1573721065
|
|
NM_014795.4(ZEB2):c.776dup (p.His259fs)
|
rs1703347063
|
|
NM_014795.4(ZEB2):c.808-2A>G
|
rs1560607925
|
|
NM_014795.4(ZEB2):c.817del (p.Met272_Leu273insTer)
|
|
|
NM_014795.4(ZEB2):c.818_821dup (p.Gln275fs)
|
rs2149877994
|
|
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter)
|
rs587784570
|
|
NM_014795.4(ZEB2):c.846del (p.Phe282fs)
|
|
|
NM_014795.4(ZEB2):c.857_858del (p.Glu286fs)
|
rs1573718630
|
|
NM_014795.4(ZEB2):c.858del (p.Glu286fs)
|
|
|
NM_014795.4(ZEB2):c.874A>T (p.Lys292Ter)
|
rs2149877963
|
|
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs)
|
rs2149877962
|
|
NM_014795.4(ZEB2):c.901del (p.Leu301fs)
|
|
|
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)
|
rs587784571
|
|
NM_014795.4(ZEB2):c.904del (p.Arg302fs)
|
|
|
NM_014795.4(ZEB2):c.916+5G>A
|
rs1703305546
|
|
NM_014795.4(ZEB2):c.916+6T>G
|
|
|
NM_014795.4(ZEB2):c.917-1G>A
|
|
|
NM_014795.4(ZEB2):c.917-2A>G
|
|
|
NM_014795.4(ZEB2):c.962_970delinsC (p.His321fs)
|
|
|
NM_014795.4(ZEB2):c.999del (p.Lys333fs)
|
rs730881208
|
|
NM_014845.6(FIG4):c.2348A>T (p.Asp783Val)
|
rs587777716
|
|
NM_014845.6(FIG4):c.290-2A>G
|
rs587777715
|
|
NM_014845.6(FIG4):c.831_838del (p.Lys278fs)
|
rs786200937
|
|
NM_014846.4(WASHC5):c.1368del (p.Ser458fs)
|
|
|
NM_014846.4(WASHC5):c.1424G>A (p.Trp475Ter)
|
rs1030054011
|
|
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)
|
rs1554593901
|
|
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe)
|
rs1554593899
|
|
NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe)
|
rs80338866
|
|
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)
|
rs80338867
|
|
NM_014846.4(WASHC5):c.2438_2439del (p.Pro813fs)
|
|
|
NM_014846.4(WASHC5):c.2595_2599del (p.Gln865fs)
|
|
|
NM_014846.4(WASHC5):c.3024_3025del (p.Leu1009fs)
|
rs765926045
|
|
NM_014846.4(WASHC5):c.3335+2T>A
|
rs398123007
|
|
NM_014846.4(WASHC5):c.633T>G (p.Tyr211Ter)
|
|
|
NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter)
|
rs1563633906
|
|
NM_014846.4(WASHC5):c.913G>T (p.Glu305Ter)
|
rs377540152
|
|
NM_014875.3(KIF14):c.1750_1751del (p.Glu584fs)
|
rs786201012
|
|
NM_014875.3(KIF14):c.1780A>T (p.Arg594Ter)
|
rs786201013
|
|
NM_014991.6(WDFY3):c.2459_2460del (p.Pro820fs)
|
rs1750979319
|
|
NM_014991.6(WDFY3):c.4063-1G>T
|
rs2149494307
|
|
NM_014991.6(WDFY3):c.7909C>T (p.Arg2637Trp)
|
rs1553924800
|
|
NM_014996.4(PLCH1):c.3211del (p.Cys1071fs)
|
rs2108014903
|
|
NM_015100.4(POGZ):c.1053del (p.Ser352fs)
|
|
|
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)
|
rs1057518170
|
|
NM_015100.4(POGZ):c.125-1G>T
|
rs1571533545
|
|
NM_015100.4(POGZ):c.1277dup (p.Pro426_Glu427insTer)
|
rs869320763
|
|
NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter)
|
rs1557901051
|
|
NM_015100.4(POGZ):c.1606dup (p.Tyr536fs)
|
|
|
NM_015100.4(POGZ):c.1608C>A (p.Tyr536Ter)
|
rs1553223544
|
|
NM_015100.4(POGZ):c.1673dup (p.Thr559fs)
|
|
|
NM_015100.4(POGZ):c.1679-1G>A
|
|
|
NM_015100.4(POGZ):c.1725del (p.Leu576fs)
|
|
|
NM_015100.4(POGZ):c.1810G>T (p.Glu604Ter)
|
rs1135401798
|
|
NM_015100.4(POGZ):c.1866_1867dup (p.Tyr623fs)
|
rs1553216467
|
|
NM_015100.4(POGZ):c.2022dup (p.Lys675Ter)
|
|
|
NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter)
|
rs1654081712
|
|
NM_015100.4(POGZ):c.2321_2324del (p.Ser774fs)
|
rs864321671
|
|
NM_015100.4(POGZ):c.2350C>T (p.Arg784Ter)
|
rs886041669
|
|
NM_015100.4(POGZ):c.2433-2A>T
|
rs1653770239
|
|
NM_015100.4(POGZ):c.2545+1G>T
|
|
|
NM_015100.4(POGZ):c.2570+1G>T
|
rs2102152727
|
|
NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter)
|
rs756659230
|
|
NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs)
|
rs1553213060
|
|
NM_015100.4(POGZ):c.2700_2710del (p.Leu901fs)
|
rs2102150015
|
|
NM_015100.4(POGZ):c.2709del (p.Pro903_Leu904insTer)
|
|
|
NM_015100.4(POGZ):c.2711T>A (p.Leu904Ter)
|
rs864321668
|
|
NM_015100.4(POGZ):c.2763dup (p.Thr922fs)
|
rs864321672
|
|
NM_015100.4(POGZ):c.2768dup (p.His923fs)
|
rs1653579916
|
|
NM_015100.4(POGZ):c.2780dup (p.Leu927fs)
|
rs864321675
|
|
NM_015100.4(POGZ):c.2806G>T (p.Gly936Ter)
|
|
|
NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs)
|
|
|
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter)
|
rs864321674
|
|
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter)
|
rs1553212545
|
|
NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter)
|
rs869312833
|
|
NM_015100.4(POGZ):c.3040C>T (p.Gln1014Ter)
|
rs2102147153
|
|
NM_015100.4(POGZ):c.3098_3101del (p.Glu1033fs)
|
|
|
NM_015100.4(POGZ):c.3121C>T (p.Gln1041Ter)
|
rs1557865787
|
|
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter)
|
rs879255404
|
|
NM_015100.4(POGZ):c.3351dup (p.Pro1118fs)
|
rs2102145228
|
|
NM_015100.4(POGZ):c.3354del (p.Leu1119fs)
|
rs864321667
|
|
NM_015100.4(POGZ):c.3360dup (p.Met1121fs)
|
rs1653455584
|
|
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter)
|
rs773311942
|
|
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)
|
rs869320764
|
|
NM_015100.4(POGZ):c.3847C>T (p.Gln1283Ter)
|
rs869312834
|
|
NM_015100.4(POGZ):c.460-1G>A
|
rs1571464589
|
|
NM_015100.4(POGZ):c.460-2A>C
|
rs2102303238
|
|
NM_015100.4(POGZ):c.600dup (p.Gly201fs)
|
|
|
NM_015100.4(POGZ):c.712C>T (p.Arg238Ter)
|
rs1557910873
|
|
NM_015100.4(POGZ):c.78_80delinsC (p.Glu26fs)
|
|
|
NM_015100.4(POGZ):c.833C>G (p.Ser278Ter)
|
rs864321673
|
|
NM_015100.4(POGZ):c.916C>T (p.Arg306Ter)
|
rs1557909777
|
|
NM_015107.3(PHF8):c.1880del (p.Lys627fs)
|
rs2065590491
|
|
NM_015107.3(PHF8):c.377del (p.Leu126fs)
|
rs1057518729
|
|
NM_015107.3(PHF8):c.529A>T (p.Lys177Ter)
|
rs121918523
|
|
NM_015107.3(PHF8):c.631C>T (p.Arg211Ter)
|
rs121918522
|
|
NM_015107.3(PHF8):c.738dup (p.His247fs)
|
|
|
NM_015107.3(PHF8):c.836T>C (p.Phe279Ser)
|
rs121918524
|
|
NM_015107.3(PHF8):c.943_946+8del
|
|
|
NM_015120.4(ALMS1):c.1241_1341del
|
rs1671380508
|
|
NM_015335.4(MED13L):c.516_517delinsAT (p.His172_Gly173delinsGlnTer)
|
rs1555250044
|
|
NM_015335.5(MED13L):c.1077_1093del (p.Met359fs)
|
rs1879651226
|
|
NM_015335.5(MED13L):c.124dup (p.Asp42fs)
|
rs869312875
|
|
NM_015335.5(MED13L):c.1496dup (p.Met499fs)
|
rs1879220710
|
|
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter)
|
rs1555247936
|
|
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs)
|
rs869025286
|
|
NM_015335.5(MED13L):c.1744del (p.Leu582fs)
|
|
|
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs)
|
rs1555247853
|
|
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs)
|
rs1555247800
|
|
NM_015335.5(MED13L):c.1A>G (p.Met1Val)
|
rs1131691818
|
|
NM_015335.5(MED13L):c.2059C>T (p.Gln687Ter)
|
rs1555247699
|
|
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter)
|
rs1592940794
|
|
NM_015335.5(MED13L):c.2107C>T (p.Gln703Ter)
|
rs1555247672
|
|
NM_015335.5(MED13L):c.2318del (p.Ser773fs)
|
rs1879044510
|
|
NM_015335.5(MED13L):c.2320del (p.Ile774fs)
|
rs2137373056
|
|
NM_015335.5(MED13L):c.2399dup (p.Thr801fs)
|
rs1135401766
|
|
NM_015335.5(MED13L):c.2504del (p.Pro835fs)
|
rs1555246952
|
|
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu)
|
rs886039599
|
|
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu)
|
rs1555246145
|
|
NM_015335.5(MED13L):c.278del (p.Asn93fs)
|
|
|
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs)
|
rs1064796611
|
|
NM_015335.5(MED13L):c.319dup (p.Glu107fs)
|
rs2137899583
|
|
NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter)
|
rs2137307819
|
|
NM_015335.5(MED13L):c.329G>A (p.Trp110Ter)
|
rs2137899543
|
|
NM_015335.5(MED13L):c.3309del (p.Glu1105fs)
|
rs2137307119
|
|
NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer)
|
|
|
NM_015335.5(MED13L):c.3459del (p.Asn1154fs)
|
|
|
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter)
|
rs1555245108
|
|
NM_015335.5(MED13L):c.3765del (p.Cys1256fs)
|
rs147976828
|
|
NM_015335.5(MED13L):c.395+1G>A
|
rs1874072309
|
|
NM_015335.5(MED13L):c.4011_4024del (p.Ile1338fs)
|
|
|
NM_015335.5(MED13L):c.4041G>A (p.Trp1347Ter)
|
rs2137290161
|
|
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter)
|
rs1592919048
|
|
NM_015335.5(MED13L):c.4083del (p.Gln1361fs)
|
rs1877748039
|
|
NM_015335.5(MED13L):c.4087del (p.His1363fs)
|
|
|
NM_015335.5(MED13L):c.4108_4114+3del
|
|
|
NM_015335.5(MED13L):c.4120del (p.Glu1374fs)
|
rs1877698147
|
|
NM_015335.5(MED13L):c.4132G>T (p.Glu1378Ter)
|
|
|
NM_015335.5(MED13L):c.4213G>T (p.Glu1405Ter)
|
rs2137287115
|
|
NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs)
|
rs1877686983
|
|
NM_015335.5(MED13L):c.4403dup (p.Thr1470fs)
|
rs1131691764
|
|
NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter)
|
rs1877535811
|
|
NM_015335.5(MED13L):c.4452del (p.Phe1484fs)
|
rs1555243582
|
|
NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer)
|
|
|
NM_015335.5(MED13L):c.4622del (p.Thr1541fs)
|
rs1877476585
|
|
NM_015335.5(MED13L):c.4716del (p.Pro1573fs)
|
rs1064796113
|
|
NM_015335.5(MED13L):c.480-1G>T
|
rs869025288
|
|
NM_015335.5(MED13L):c.4956-2A>C
|
rs1057518705
|
|
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs)
|
rs1877403231
|
|
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn)
|
|
|
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs)
|
rs1555243059
|
|
NM_015335.5(MED13L):c.5173C>T (p.Gln1725Ter)
|
rs1135401765
|
|
NM_015335.5(MED13L):c.5244_5248dup (p.Met1750fs)
|
rs2137264830
|
|
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter)
|
rs886041448
|
|
NM_015335.5(MED13L):c.5364+1dup
|
rs1877270718
|
|
NM_015335.5(MED13L):c.541_556delinsA (p.Val181_His186delinsAsn)
|
rs2137446876
|
|
NM_015335.5(MED13L):c.5444del (p.Thr1815fs)
|
rs879255407
|
|
NM_015335.5(MED13L):c.5502del (p.His1834fs)
|
rs1565987758
|
|
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter)
|
rs139063441
|
|
NM_015335.5(MED13L):c.5588+1G>A
|
rs1135401810
|
|
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter)
|
rs1876853109
|
|
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs)
|
rs1876629983
|
|
NM_015335.5(MED13L):c.5941C>T (p.Gln1981Ter)
|
rs2137223723
|
|
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)
|
rs1876520009
|
|
NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs)
|
|
|
NM_015335.5(MED13L):c.6039del (p.Asn2014fs)
|
|
|
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs)
|
rs869025287
|
|
NM_015335.5(MED13L):c.6195dup (p.Gly2066fs)
|
rs2137216530
|
|
NM_015335.5(MED13L):c.6226-1G>C
|
rs1876150289
|
|
NM_015335.5(MED13L):c.6234_6235del (p.Glu2079fs)
|
|
|
NM_015335.5(MED13L):c.6260del (p.Pro2087fs)
|
rs1565982697
|
|
NM_015335.5(MED13L):c.6331del (p.Gln2111fs)
|
|
|
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met)
|
rs869312707
|
|
NM_015335.5(MED13L):c.747_748del (p.Lys250fs)
|
rs1592953902
|
|
NM_015335.5(MED13L):c.760_1175+967del
|
|
|
NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs)
|
rs886043994
|
|
NM_015338.6(ASXL1):c.1283_1284del (p.Gln428fs)
|
rs1569324457
|
|
NM_015338.6(ASXL1):c.1368_1371del (p.Asp457fs)
|
|
|
NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs)
|
rs1600583334
|
|
NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs)
|
|
|
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs)
|
rs777537805
|
|
NM_015338.6(ASXL1):c.1719+1G>A
|
rs1311986203
|
|
NM_015338.6(ASXL1):c.1720-1G>A
|
rs1254271466
|
|
NM_015338.6(ASXL1):c.1720A>G (p.Ile574Val)
|
rs2011649912
|
|
NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter)
|
rs111316898
|
|
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs)
|
rs766433101
|
|
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)
|
rs750318549
|
|
NM_015338.6(ASXL1):c.2036dup (p.Gly680fs)
|
rs1600586587
|
|
NM_015338.6(ASXL1):c.217A>T (p.Lys73Ter)
|
rs1555901138
|
|
NM_015338.6(ASXL1):c.2197C>T (p.Gln733Ter)
|
rs387907078
|
|
NM_015338.6(ASXL1):c.2302dup (p.Gln768fs)
|
|
|
NM_015338.6(ASXL1):c.2407_2411del (p.Gln803fs)
|
rs1600588199
|
|
NM_015338.6(ASXL1):c.2416_2417dup (p.Val807fs)
|
rs1600588239
|
|
NM_015338.6(ASXL1):c.2456del (p.Gly819fs)
|
|
|
NM_015338.6(ASXL1):c.2535dup (p.Ser846fs)
|
rs750170870
|
|
NM_015338.6(ASXL1):c.2759_2762dup (p.Val922fs)
|
rs2145372935
|
|
NM_015338.6(ASXL1):c.2773C>T (p.Gln925Ter)
|
rs387907077
|
|
NM_015338.6(ASXL1):c.2789G>A (p.Trp930Ter)
|
|
|
NM_015338.6(ASXL1):c.3083C>A (p.Ser1028Ter)
|
rs200702600
|
|
NM_015338.6(ASXL1):c.3202C>T (p.Arg1068Ter)
|
rs764651405
|
|
NM_015338.6(ASXL1):c.3437C>A (p.Ser1146Ter)
|
rs757040754
|
|
NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter)
|
rs1569337452
|
|
NM_015338.6(ASXL1):c.3754_3758del (p.Gln1251_Asp1252insTer)
|
rs1555912709
|
|
NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs)
|
|
|
NM_015338.6(ASXL1):c.4048C>T (p.Gln1350Ter)
|
rs763386297
|
|
NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter)
|
rs1569339085
|
|
NM_015338.6(ASXL1):c.4254_4260delinsCTCAC (p.Lys1419fs)
|
|
|
NM_015450.3(POT1):c.965C>T (p.Ser322Leu)
|
rs2116484197
|
|
NM_015559.3(SETBP1):c.1821del (p.Ser608fs)
|
rs797045952
|
|
NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter)
|
rs606231272
|
|
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)
|
rs606231273
|
|
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys)
|
rs1178702025
|
|
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)
|
rs267607042
|
|
NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala)
|
rs267607041
|
|
NM_015559.3(SETBP1):c.2607C>G (p.Ser869Arg)
|
|
|
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)
|
rs267607040
|
|
NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp)
|
rs267607039
|
|
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser)
|
rs267607038
|
|
NM_015570.4(AUTS2):c.1135C>T (p.Gln379Ter)
|
|
|
NM_015570.4(AUTS2):c.1298del (p.Leu433fs)
|
rs1057518198
|
|
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter)
|
rs1057517708
|
|
NM_015570.4(AUTS2):c.149C>A (p.Ser50Ter)
|
rs775225727
|
|
NM_015570.4(AUTS2):c.1531G>A (p.Gly511Arg)
|
|
|
NM_015570.4(AUTS2):c.1534dup (p.Ala512fs)
|
rs1789927813
|
|
NM_015570.4(AUTS2):c.1547dup (p.Pro517fs)
|
rs1585653028
|
|
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])
|
rs1789934246
|
|
NM_015570.4(AUTS2):c.1882_1883del (p.Leu628fs)
|
rs1585667374
|
|
NM_015570.4(AUTS2):c.1902+1G>A
|
|
|
NM_015570.4(AUTS2):c.1913del (p.Pro638fs)
|
rs2129558877
|
|
NM_015570.4(AUTS2):c.1995_1996del (p.Lys666fs)
|
rs2129559195
|
|
NM_015570.4(AUTS2):c.1A>T (p.Met1Leu)
|
rs2129067294
|
|
NM_015570.4(AUTS2):c.2218del (p.His740fs)
|
|
|
NM_015570.4(AUTS2):c.2T>C (p.Met1Thr)
|
rs1792258600
|
|
NM_015570.4(AUTS2):c.357_361dup (p.Leu121fs)
|
rs1554401434
|
|
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)
|
rs1562957809
|
|
NM_015570.4(AUTS2):c.390_393dup (p.Gly132fs)
|
|
|
NM_015570.4(AUTS2):c.479_487delinsC (p.Gln160fs)
|
rs2129540475
|
|
NM_015570.4(AUTS2):c.742+1G>A
|
rs1554464807
|
|
NM_015570.4(AUTS2):c.742_742+3del
|
|
|
NM_015570.4(AUTS2):c.857_858del (p.Lys286fs)
|
rs864321694
|
|
NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter)
|
rs1585645641
|
|
NM_015570.4(AUTS2):c.940C>T (p.Gln314Ter)
|
|
|
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)
|
rs1554480537
|
|
NM_015570.4:c.(690+1_691-1)_(742+1_743-1)del
|
|
|
NM_015965.7(NDUFA13):c.194del (p.Phe65fs)
|
rs2061105702
|
|
NM_016023.5(OTUD6B):c.189_190del (p.His63fs)
|
rs779499353
|
|
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs)
|
rs748735420
|
|
NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs)
|
rs759317757
|
|
NM_016023.5(OTUD6B):c.381_388del (p.Leu127fs)
|
|
|
NM_016023.5(OTUD6B):c.527_528del (p.Val176fs)
|
rs1472577530
|
|
NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys)
|
rs1064797103
|
|
NM_016023.5(OTUD6B):c.631G>T (p.Glu211Ter)
|
rs772032719
|
|
NM_016023.5(OTUD6B):c.83-2A>G
|
rs1064797102
|
|
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
|
|
|
NM_016213.5(TRIP4):c.265A>T (p.Lys89Ter)
|
|
|
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys)
|
rs1567417422
|
|
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_017619.4(RNPC3):c.1228T>G (p.Phe410Val)
|
rs2101050974
|
|
NM_017619.4(RNPC3):c.1421del (p.Pro474fs)
|
rs1461692571
|
|
NM_017619.4(RNPC3):c.1449A>T (p.Leu483Phe)
|
rs2101053814
|
|
NM_017619.4(RNPC3):c.261dup (p.Leu88fs)
|
rs2101044148
|
|
NM_017619.4(RNPC3):c.443G>C (p.Gly148Ala)
|
rs2101044774
|
|
NM_017619.4(RNPC3):c.613C>T (p.Arg205Ter)
|
rs939646611
|
|
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter)
|
rs114727354
|
|
NM_017668.3(NDE1):c.109C>T (p.Arg37Ter)
|
rs757604577
|
|
NM_017668.3(NDE1):c.54G>A (p.Trp18Ter)
|
rs2151436194
|
|
NM_017668.3(NDE1):c.658C>T (p.Arg220Ter)
|
rs576928842
|
|
NM_017668.3(NDE1):c.684_685del (p.Pro229fs)
|
rs756206942
|
|
NM_017668.3(NDE1):c.733dup (p.Leu245fs)
|
rs749768828
|
|
NM_017668.3(NDE1):c.83+1G>T
|
rs1456594953
|
|
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.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_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs)
|
rs774357106
|
|
NM_017890.5(VPS13B):c.4165G>T (p.Glu1389Ter)
|
|
|
NM_017890.5(VPS13B):c.4176G>A (p.Trp1392Ter)
|
|
|
NM_017890.5(VPS13B):c.4207del (p.Ser1403fs)
|
|
|
NM_017890.5(VPS13B):c.4233dup (p.Thr1412fs)
|
rs2133626786
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter)
|
rs2127741566
|
|
NM_017934.7(PHIP):c.1507C>T (p.Arg503Ter)
|
rs1411448554
|
|
NM_017934.7(PHIP):c.1654-2A>C
|
|
|
NM_017934.7(PHIP):c.2305_2306insGA (p.Pro769fs)
|
rs1769197412
|
|
NM_017934.7(PHIP):c.2306_2309del (p.Pro769fs)
|
|
|
NM_017934.7(PHIP):c.2703dup (p.Val902fs)
|
rs2127718540
|
|
NM_017934.7(PHIP):c.2744_2747del (p.Lys915fs)
|
rs1562150844
|
|
NM_017934.7(PHIP):c.298_299del (p.Leu100fs)
|
rs1554212744
|
|
NM_017934.7(PHIP):c.2T>C (p.Met1Thr)
|
rs1774283406
|
|
NM_017934.7(PHIP):c.3110C>A (p.Ser1037Ter)
|
rs1767424632
|
|
NM_017934.7(PHIP):c.3161del (p.Val1053_Leu1054insTer)
|
rs1562134961
|
|
NM_017934.7(PHIP):c.3243G>A (p.Trp1081Ter)
|
|
|
NM_017934.7(PHIP):c.328C>A (p.Arg110Ser)
|
rs768324201
|
|
NM_017934.7(PHIP):c.3394G>T (p.Glu1132Ter)
|
|
|
NM_017934.7(PHIP):c.3447T>G (p.Tyr1149Ter)
|
rs1562128924
|
|
NM_017934.7(PHIP):c.3499del (p.Arg1167fs)
|
|
|
NM_017934.7(PHIP):c.3571C>T (p.Gln1191Ter)
|
rs1554196907
|
|
NM_017934.7(PHIP):c.3595del (p.Thr1198_Val1199insTer)
|
rs1562127631
|
|
NM_017934.7(PHIP):c.3631_3634del (p.Gln1211fs)
|
rs1766794792
|
|
NM_017934.7(PHIP):c.3656+1242A>T
|
rs1582111930
|
|
NM_017934.7(PHIP):c.3922A>T (p.Arg1308Ter)
|
rs2127690980
|
|
NM_017934.7(PHIP):c.3952dup (p.Ile1318fs)
|
|
|
NM_017934.7(PHIP):c.4370+1G>A
|
|
|
NM_017934.7(PHIP):c.4402C>T (p.Gln1468Ter)
|
rs1554194287
|
|
NM_017934.7(PHIP):c.4513C>T (p.Arg1505Ter)
|
|
|
NM_017934.7(PHIP):c.4570del (p.Ser1524fs)
|
rs1562114190
|
|
NM_017934.7(PHIP):c.50T>C (p.Phe17Ser)
|
rs878854420
|
|
NM_017934.7(PHIP):c.540_541insA (p.Gly181fs)
|
rs1562203136
|
|
NM_017934.7(PHIP):c.598_599delinsT (p.Thr200fs)
|
rs1554210073
|
|
NM_017934.7(PHIP):c.704_705del (p.Asn234_Tyr235insTer)
|
rs2127748476
|
|
NM_017934.7(PHIP):c.705T>G (p.Tyr235Ter)
|
rs1562189451
|
|
NM_017934.7(PHIP):c.763C>T (p.Arg255Ter)
|
rs1064796868
|
|
NM_017934.7(PHIP):c.779del (p.Leu260fs)
|
rs878854421
|
|
NM_017934.7(PHIP):c.820C>T (p.Gln274Ter)
|
|
|
NM_017934.7(PHIP):c.919_923del (p.Ile307fs)
|
rs771126523
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018026.4(PACS1):c.1574G>A (p.Arg525Lys)
|
rs2134735819
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018027.5(FRMD4A):c.2134_2146dup (p.Gly716fs)
|
rs869025338
|
|
NM_018136.5(ASPM):c.9324del (p.Leu3109fs)
|
rs1163303148
|
|
NM_018341.3(ERMARD):c.1130T>A (p.Ile377Asn)
|
rs398122410
|
|
NM_018418.4:c.(?_-175)_(238+1_239-1)del
|
|
|
NM_018418.5(SPATA7):c.1058dup (p.Ser354fs)
|
rs878853385
|
|
NM_018418.5(SPATA7):c.1079_1080del (p.Tyr359_Ser360insTer)
|
|
|
NM_018418.5(SPATA7):c.1090G>T (p.Glu364Ter)
|
|
|
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs)
|
rs777069665
|
|
NM_018418.5(SPATA7):c.1126_1127del (p.Thr375_Asp376insTer)
|
rs1227147156
|
|
NM_018418.5(SPATA7):c.115_119del (p.Ser39fs)
|
rs1555370458
|
|
NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter)
|
rs374268850
|
|
NM_018418.5(SPATA7):c.1195C>T (p.Gln399Ter)
|
rs2077123571
|
|
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs)
|
rs1436269510
|
|
NM_018418.5(SPATA7):c.1200_1201del (p.Asn400fs)
|
rs2077123914
|
|
NM_018418.5(SPATA7):c.1210G>T (p.Glu404Ter)
|
rs749304751
|
|
NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp)
|
rs768028061
|
|
NM_018418.5(SPATA7):c.1222del (p.Met408fs)
|
|
|
NM_018418.5(SPATA7):c.1418del (p.Met473fs)
|
|
|
NM_018418.5(SPATA7):c.19+1G>C
|
rs2075555029
|
|
NM_018418.5(SPATA7):c.19G>A (p.Val7Ile)
|
rs371609982
|
|
NM_018418.5(SPATA7):c.265_268del (p.Leu89fs)
|
rs777346333
|
|
NM_018418.5(SPATA7):c.418dup (p.Met140fs)
|
rs2139995462
|
|
NM_018418.5(SPATA7):c.477_478del (p.Leu161fs)
|
|
|
NM_018418.5(SPATA7):c.578_581dup (p.Ser195fs)
|
|
|
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer)
|
rs567890014
|
|
NM_018418.5(SPATA7):c.700dup (p.Ser234fs)
|
rs567890014
|
|
NM_018418.5(SPATA7):c.763C>T (p.Gln255Ter)
|
rs1387058171
|
|
NM_018418.5(SPATA7):c.845+1G>A
|
rs761981554
|
|
NM_018418.5(SPATA7):c.864del (p.Thr289fs)
|
|
|
NM_018418.5(SPATA7):c.901_912+1del
|
|
|
NM_018418.5(SPATA7):c.903_904del (p.Ile302fs)
|
rs1240995964
|
|
NM_018418.5(SPATA7):c.960dup (p.Pro321fs)
|
rs386834241
|
|
NM_018418.5(SPATA7):c.969_975del (p.Gly324fs)
|
rs2140004287
|
|
NM_018418.5(SPATA7):c.[1160+1G>A];[388C>T]
|
|
|
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+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.412C>T (p.Gln138Ter)
|
rs1602379828
|
|
NM_018684.4(ZC4H2):c.427C>T (p.Gln143Ter)
|
rs1260869746
|
|
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.637C>T (p.Arg213Trp)
|
rs879255236
|
|
NM_018684.4(ZC4H2):c.650A>G (p.Lys217Arg)
|
rs1929002470
|
|
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs)
|
rs763953657
|
|
NM_019023.5(PRMT7):c.1097G>A (p.Cys366Tyr)
|
rs2151827144
|
|
NM_019023.5(PRMT7):c.1239_1246dup (p.Val416fs)
|
rs1567721991
|
|
NM_019023.5(PRMT7):c.1276-1G>A
|
rs886039897
|
|
NM_019023.5(PRMT7):c.431_432del (p.Glu144fs)
|
rs1567690011
|
|
NM_019023.5(PRMT7):c.622del (p.Gln208fs)
|
rs2151732301
|
|
NM_019023.5(PRMT7):c.967C>T (p.Gln323Ter)
|
|
|
NM_019023.5(PRMT7):c.98C>A (p.Ser33Ter)
|
rs2151436426
|
|
NM_019066.5(MAGEL2):c.1613C>A (p.Ala538Glu)
|
rs1013540105
|
|
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter)
|
rs1555374290
|
|
NM_019066.5(MAGEL2):c.1652del (p.Val551fs)
|
rs398122415
|
|
NM_019066.5(MAGEL2):c.1761G>A (p.Trp587Ter)
|
rs1566784441
|
|
NM_019066.5(MAGEL2):c.1762C>T (p.Gln588Ter)
|
rs866419580
|
|
NM_019066.5(MAGEL2):c.1802del (p.Pro601fs)
|
rs398122416
|
|
NM_019066.5(MAGEL2):c.188dup (p.Ala64fs)
|
rs1595334203
|
|
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)
|
rs797044883
|
|
NM_019066.5(MAGEL2):c.1930C>T (p.Gln644Ter)
|
rs1890387347
|
|
NM_019066.5(MAGEL2):c.1996C>T (p.Gln666Ter)
|
rs752097874
|
|
NM_019066.5(MAGEL2):c.1996del (p.Gln666fs)
|
rs770374710
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_019066.5(MAGEL2):c.2099dup (p.Val701fs)
|
rs2140714298
|
|
NM_019066.5(MAGEL2):c.2118del (p.Leu708fs)
|
rs1555374227
|
|
NM_019066.5(MAGEL2):c.2199del (p.Glu734fs)
|
rs1595332359
|
|
NM_019066.5(MAGEL2):c.2216del (p.Ser738_Ser739insTer)
|
rs2140714112
|
|
NM_019066.5(MAGEL2):c.2894G>A (p.Trp965Ter)
|
rs2140713056
|
|
NM_019066.5(MAGEL2):c.2895G>A (p.Trp965Ter)
|
|
|
NM_019066.5(MAGEL2):c.2958del (p.Ser987fs)
|
rs1060499934
|
|
NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter)
|
rs398122418
|
|
NM_019066.5(MAGEL2):c.3181_3182del (p.Ile1061fs)
|
rs398122417
|
|
NM_019066.5(MAGEL2):c.3208G>T (p.Glu1070Ter)
|
rs869312694
|
|
NM_019066.5(MAGEL2):c.3246del (p.Asn1084fs)
|
rs1595331427
|
|
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)
|
rs775796581
|
|
NM_019098.5(CNGB3):c.991-3T>G
|
rs773372519
|
|
NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys)
|
rs866373727
|
|
NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg)
|
rs1558337060
|
|
NM_020314.7(VPS35L):c.2488G>A (p.Ala830Thr)
|
rs747119819
|
|
NM_020314.7(VPS35L):c.830dup (p.Cys277fs)
|
rs1972596669
|
|
NM_020366.3(RPGRIP1):c.[2302C>T];[3565_3571del]
|
|
|
NM_020366.3:c.(930+1_931-1)_(1151+1_1152-1)del
|
|
|
NM_020366.4(RPGRIP1):c.1087_1090del (p.Arg363fs)
|
|
|
NM_020366.4(RPGRIP1):c.1089_1090dup (p.Val364fs)
|
rs768719934
|
|
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
|
rs61751266
|
|
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs)
|
rs776880045
|
|
NM_020366.4(RPGRIP1):c.1133dup (p.Tyr378Ter)
|
rs1391335025
|
|
NM_020366.4(RPGRIP1):c.1145T>A (p.Leu382Ter)
|
rs2139176356
|
|
NM_020366.4(RPGRIP1):c.1151+1G>A
|
rs751096098
|
|
NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)
|
|
|
NM_020366.4(RPGRIP1):c.1220dup (p.Gln408fs)
|
|
|
NM_020366.4(RPGRIP1):c.1243del (p.Asp415fs)
|
|
|
NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter)
|
rs878853392
|
|
NM_020366.4(RPGRIP1):c.1309C>T (p.Gln437Ter)
|
|
|
NM_020366.4(RPGRIP1):c.1363del (p.Glu455fs)
|
rs763671264
|
|
NM_020366.4(RPGRIP1):c.1447C>T (p.Gln483Ter)
|
rs368781265
|
|
NM_020366.4(RPGRIP1):c.1468-263G>C
|
rs1594202505
|
|
NM_020366.4(RPGRIP1):c.14_29dup (p.Asp11fs)
|
rs1181453325
|
|
NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=)
|
rs1064797181
|
|
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)
|
rs1420750126
|
|
NM_020366.4(RPGRIP1):c.1646del (p.Asn549fs)
|
|
|
NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter)
|
rs776963292
|
|
NM_020366.4(RPGRIP1):c.1713dup (p.Ile572fs)
|
|
|
NM_020366.4(RPGRIP1):c.172_173del (p.Met58fs)
|
|
|
NM_020366.4(RPGRIP1):c.1867C>T (p.Gln623Ter)
|
rs772090790
|
|
NM_020366.4(RPGRIP1):c.1892A>T (p.His631Leu)
|
rs535922252
|
|
NM_020366.4(RPGRIP1):c.1930C>T (p.Gln644Ter)
|
rs2139227650
|
|
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter)
|
rs137853124
|
|
NM_020366.4(RPGRIP1):c.1995T>A (p.Cys665Ter)
|
rs1225223445
|
|
NM_020366.4(RPGRIP1):c.2017C>T (p.Gln673Ter)
|
rs1566341956
|
|
NM_020366.4(RPGRIP1):c.2024del (p.Leu675fs)
|
rs2139228423
|
|
NM_020366.4(RPGRIP1):c.2086G>T (p.Glu696Ter)
|
rs1882904268
|
|
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)
|
|
|
NM_020366.4(RPGRIP1):c.2239del (p.Val747fs)
|
rs1882946937
|
|
NM_020366.4(RPGRIP1):c.2308_2311del (p.Lys770fs)
|
rs1412625438
|
|
NM_020366.4(RPGRIP1):c.2356C>T (p.Gln786Ter)
|
rs587783019
|
|
NM_020366.4(RPGRIP1):c.2367+23del
|
rs781728563
|
|
NM_020366.4(RPGRIP1):c.2368-2A>G
|
rs1064797182
|
|
NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs)
|
rs1739469293
|
|
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs)
|
rs745741473
|
|
NM_020366.4(RPGRIP1):c.24dup (p.Ser9fs)
|
|
|
NM_020366.4(RPGRIP1):c.2567_2568dup (p.Val857fs)
|
rs1555302200
|
|
NM_020366.4(RPGRIP1):c.2668C>T (p.Arg890Ter)
|
rs780587095
|
|
NM_020366.4(RPGRIP1):c.2710+1G>A
|
rs1883084009
|
|
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter)
|
rs776289402
|
|
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs)
|
rs61751270
|
|
NM_020366.4(RPGRIP1):c.2781del (p.Tyr929fs)
|
rs1883254940
|
|
NM_020366.4(RPGRIP1):c.2876del (p.Lys959fs)
|
rs786205623
|
|
NM_020366.4(RPGRIP1):c.2890del (p.Ser964fs)
|
rs1555302710
|
|
NM_020366.4(RPGRIP1):c.2895+1G>A
|
rs748072501
|
|
NM_020366.4(RPGRIP1):c.2910_2911del (p.Ser970_Pro971insTer)
|
|
|
NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter)
|
rs1371805993
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
|
NM_020366.4(RPGRIP1):c.2974_2984del (p.Arg992fs)
|
|
|
NM_020366.4(RPGRIP1):c.2974del (p.Arg992fs)
|
rs1594224781
|
|
NM_020366.4(RPGRIP1):c.3094_3095insT (p.Pro1032fs)
|
|
|
NM_020366.4(RPGRIP1):c.313C>T (p.Gln105Ter)
|
rs2139156519
|
|
NM_020366.4(RPGRIP1):c.3238+1G>A
|
rs1325103400
|
|
NM_020366.4(RPGRIP1):c.3239-1_3241del
|
rs1884133804
|
|
NM_020366.4(RPGRIP1):c.3275_3276dup (p.Ala1093fs)
|
rs2139288271
|
|
NM_020366.4(RPGRIP1):c.3339+2477_3533-151del
|
|
|
NM_020366.4(RPGRIP1):c.3339+5G>A
|
rs1057518122
|
|
NM_020366.4(RPGRIP1):c.3427del (p.Tyr1143fs)
|
rs1885186332
|
|
NM_020366.4(RPGRIP1):c.3463G>T (p.Glu1155Ter)
|
|
|
NM_020366.4(RPGRIP1):c.3467_3468insCT (p.Thr1156_Glu1157insTer)
|
rs776698746
|
|
NM_020366.4(RPGRIP1):c.3487dup (p.Arg1163fs)
|
rs1885194108
|
|
NM_020366.4(RPGRIP1):c.3511del (p.Ile1171fs)
|
|
|
NM_020366.4(RPGRIP1):c.3565_3571del (p.Arg1189fs)
|
rs587783012
|
|
NM_020366.4(RPGRIP1):c.3609del (p.Gln1204fs)
|
rs61751271
|
|
NM_020366.4(RPGRIP1):c.3610C>T (p.Gln1204Ter)
|
rs2139350315
|
|
NM_020366.4(RPGRIP1):c.3617+1G>A
|
rs771116776
|
|
NM_020366.4(RPGRIP1):c.3618-1_3621del
|
rs1594280740
|
|
NM_020366.4(RPGRIP1):c.3629_3630insG (p.Val1211fs)
|
rs1885757549
|
|
NM_020366.4(RPGRIP1):c.3663_3666del (p.Lys1221fs)
|
rs1594280914
|
|
NM_020366.4(RPGRIP1):c.3726dup (p.Ile1243fs)
|
|
|
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del)
|
rs281865293
|
|
NM_020366.4(RPGRIP1):c.442A>T (p.Arg148Ter)
|
|
|
NM_020366.4(RPGRIP1):c.511del (p.Tyr171fs)
|
rs61751265
|
|
NM_020366.4(RPGRIP1):c.521del (p.Pro174fs)
|
rs1881077003
|
|
NM_020366.4(RPGRIP1):c.604_611del (p.Ser202fs)
|
|
|
NM_020366.4(RPGRIP1):c.664_665del (p.Asn222fs)
|
|
|
NM_020366.4(RPGRIP1):c.673del (p.His225fs)
|
rs752263228
|
|
NM_020366.4(RPGRIP1):c.711del (p.Lys239fs)
|
rs2139160608
|
|
NM_020366.4(RPGRIP1):c.767C>G (p.Ser256Ter)
|
rs2139160679
|
|
NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter)
|
rs554396590
|
|
NM_020366.4(RPGRIP1):c.801-25_843del
|
rs1566674809
|
|
NM_020366.4(RPGRIP1):c.808_826del (p.Ser269_Ile270insTer)
|
rs2139168888
|
|
NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter)
|
rs587783018
|
|
NM_020366.4(RPGRIP1):c.833del (p.Arg278fs)
|
|
|
NM_020366.4(RPGRIP1):c.853_854insGCCGAGTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTACATG (p.Glu285delinsGlyArgValProAlaIleAlaGlyAlaArgArgHisAlaTer)
|
|
|
NM_020366.4(RPGRIP1):c.895_896del (p.Glu299fs)
|
rs1594180177
|
|
NM_020366.4(RPGRIP1):c.931-2_935delinsT
|
rs2139175288
|
|
NM_020366.4(RPGRIP1):c.[2079C>G];[2212_2215+21del]
|
|
|
NM_020451.2(SELENON):c.-55_183del
|
rs1572226620
|
|
NM_020451.2(SELENON):c.-64_36del
|
rs1572226578
|
|
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.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.1282-1G>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.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.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_020549.5(CHAT):c.1007T>C (p.Ile336Thr)
|
rs121912823
|
|
NM_020549.5(CHAT):c.1027G>T (p.Glu343Ter)
|
|
|
NM_020549.5(CHAT):c.1058_1061dup (p.Ser355fs)
|
|
|
NM_020549.5(CHAT):c.1110_1111delAG (p.Asp371fs)
|
|
|
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
|
|
|
NM_020549.5(CHAT):c.1262G>C (p.Trp421Ser)
|
|
|
NM_020549.5(CHAT):c.1263G>A (p.Trp421Ter)
|
|
|
NM_020549.5(CHAT):c.1359_1363del (p.Cys453_Glu455delinsTer)
|
|
|
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
|
|
|
NM_020549.5(CHAT):c.1408C>T (p.Arg470Ter)
|
rs142889639
|
|
NM_020549.5(CHAT):c.1435del (p.Ala479fs)
|
|
|
NM_020549.5(CHAT):c.1438_1444del (p.Pro480fs)
|
|
|
NM_020549.5(CHAT):c.1441del (p.Arg481fs)
|
|
|
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
|
|
|
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)
|
rs121912818
|
|
NM_020549.5(CHAT):c.1444dup (p.Arg482fs)
|
|
|
NM_020549.5(CHAT):c.1455G>A (p.Trp485Ter)
|
|
|
NM_020549.5(CHAT):c.1539_1542del (p.Tyr514fs)
|
|
|
NM_020549.5(CHAT):c.1542T>A (p.Tyr514Ter)
|
|
|
NM_020549.5(CHAT):c.1620dup (p.Leu541fs)
|
rs2132820703
|
|
NM_020549.5(CHAT):c.1641_1642delinsCT (p.Arg548Ter)
|
|
|
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter)
|
rs757303526
|
|
NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp)
|
rs753652169
|
|
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
|
|
|
NM_020549.5(CHAT):c.1891G>A (p.Ala631Thr)
|
|
|
NM_020549.5(CHAT):c.1897del (p.Ala633fs)
|
|
|
NM_020549.5(CHAT):c.1905C>A (p.Cys635Ter)
|
|
|
NM_020549.5(CHAT):c.1909G>T (p.Glu637Ter)
|
rs777684375
|
|
NM_020549.5(CHAT):c.418C>T (p.Gln140Ter)
|
rs794727516
|
|
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
|
|
|
NM_020549.5(CHAT):c.472C>T (p.Gln158Ter)
|
rs1838635016
|
|
NM_020549.5(CHAT):c.476_477delinsAG (p.Phe159Ter)
|
rs1838635262
|
|
NM_020549.5(CHAT):c.522_523dup (p.Leu175fs)
|
rs1404321683
|
|
NM_020549.5(CHAT):c.619del (p.Arg207fs)
|
|
|
NM_020549.5(CHAT):c.669del (p.Gln223fs)
|
rs1554802808
|
|
NM_020549.5(CHAT):c.880_884del (p.Asn294fs)
|
|
|
NM_020549.5(CHAT):c.914T>C (p.Ile305Thr)
|
rs75466054
|
|
NM_020549.5(CHAT):c.951del (p.Val318fs)
|
rs2132735050
|
|
NM_020549.5(CHAT):c.982del (p.Asp328fs)
|
rs1590576560
|
|
NM_020699.4(GATAD2B):c.1075C>T (p.Gln359Ter)
|
rs1557781252
|
|
NM_020699.4(GATAD2B):c.117_127del (p.Met40fs)
|
|
|
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs)
|
rs1674480467
|
|
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln)
|
rs1057521041
|
|
NM_020699.4(GATAD2B):c.1258T>C (p.Cys420Arg)
|
rs1674357007
|
|
NM_020699.4(GATAD2B):c.1408C>T (p.Gln470Ter)
|
rs587776931
|
|
NM_020699.4(GATAD2B):c.1411C>T (p.Gln471Ter)
|
|
|
NM_020699.4(GATAD2B):c.1419+1G>A
|
rs1674353589
|
|
NM_020699.4(GATAD2B):c.1426G>T (p.Glu476Ter)
|
rs1553187446
|
|
NM_020699.4(GATAD2B):c.1429C>T (p.Gln477Ter)
|
rs1553187443
|
|
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter)
|
rs761820222
|
|
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter)
|
rs1674313030
|
|
NM_020699.4(GATAD2B):c.185del (p.Glu62fs)
|
rs1570938014
|
|
NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter)
|
rs886041621
|
|
NM_020699.4(GATAD2B):c.365C>G (p.Ser122Ter)
|
rs1674609315
|
|
NM_020699.4(GATAD2B):c.466-1G>C
|
|
|
NM_020699.4(GATAD2B):c.520C>T (p.Arg174Ter)
|
rs1674577139
|
|
NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter)
|
rs1553188463
|
|
NM_020699.4(GATAD2B):c.539T>C (p.Leu180Pro)
|
rs1674576482
|
|
NM_020699.4(GATAD2B):c.552_555del (p.Lys184fs)
|
rs1131692165
|
|
NM_020699.4(GATAD2B):c.565_566del (p.Gln190fs)
|
rs886037647
|
|
NM_020699.4(GATAD2B):c.574C>T (p.Gln192Ter)
|
rs1570929904
|
|
NM_020699.4(GATAD2B):c.658C>T (p.Gln220Ter)
|
rs1057520600
|
|
NM_020699.4(GATAD2B):c.667_670del (p.Lys224fs)
|
rs1570929072
|
|
NM_020699.4(GATAD2B):c.694C>T (p.Gln232Ter)
|
rs1057518674
|
|
NM_020699.4(GATAD2B):c.709C>T (p.Gln237Ter)
|
rs1553188314
|
|
NM_020699.4(GATAD2B):c.76_80dup (p.Leu28fs)
|
rs1131692164
|
|
NM_020699.4(GATAD2B):c.777_778del (p.Met259fs)
|
rs2101880773
|
|
NM_020699.4(GATAD2B):c.818dup (p.Gln274fs)
|
|
|
NM_020699.4(GATAD2B):c.895C>T (p.Gln299Ter)
|
rs1674512996
|
|
NM_020699.4(GATAD2B):c.918del (p.Pro307fs)
|
rs1064793829
|
|
NM_020699.4(GATAD2B):c.973C>T (p.Gln325Ter)
|
rs1064794066
|
|
NM_020699.4(GATAD2B):c.981del (p.Thr328fs)
|
rs797045594
|
|
NM_020771.3(HACE1):c.2019_2020insTTTAGGTATTTTTAGGTATT
|
|
|
NM_020771.4(HACE1):c.152C>G (p.Ser51Ter)
|
|
|
NM_020771.4(HACE1):c.1712C>A (p.Ser571Ter)
|
rs1582418143
|
|
NM_020771.4(HACE1):c.1852_1853del (p.Gln618fs)
|
rs751809418
|
|
NM_020771.4(HACE1):c.2242C>T (p.Arg748Ter)
|
rs869025281
|
|
NM_020771.4(HACE1):c.239G>A (p.Cys80Tyr)
|
rs1319508199
|
|
NM_020771.4(HACE1):c.240C>A (p.Cys80Ter)
|
rs761086584
|
|
NM_020771.4(HACE1):c.2487TCT[1] (p.Leu832del)
|
rs869025283
|
|
NM_020771.4(HACE1):c.355G>T (p.Glu119Ter)
|
rs2115167557
|
|
NM_020771.4(HACE1):c.454C>T (p.Gln152Ter)
|
rs869025284
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
NM_021252.5(RAB18):c.274AGA[1] (p.Arg93del)
|
rs587776875
|
|
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln)
|
rs387906833
|
|
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln)
|
rs387906832
|
|
NM_021619.3(PRDM12):c.1041CGC[(15_?)]
|
|
|
NM_021619.3(PRDM12):c.131_138del (p.Val44fs)
|
rs2132586619
|
|
NM_021619.3(PRDM12):c.224-1G>A
|
rs2132588902
|
|
NM_021619.3(PRDM12):c.303del (p.Ile102fs)
|
|
|
NM_021619.3(PRDM12):c.305T>A (p.Ile102Asn)
|
rs879255636
|
|
NM_021619.3(PRDM12):c.516G>C (p.Glu172Asp)
|
rs755205487
|
|
NM_021619.3(PRDM12):c.578dup (p.Pro194fs)
|
|
|
NM_021619.3(PRDM12):c.785T>G (p.Met262Arg)
|
rs2132608070
|
|
NM_021619.3(PRDM12):c.866A>T (p.His289Leu)
|
rs879255638
|
|
NM_021619.3(PRDM12):c.91G>T (p.Asp31Tyr)
|
rs879255637
|
|
NM_021728.4(OTX2):c.698del (p.Asn233fs)
|
rs2139528052
|
|
NM_021954.4(GJA3):c.56C>T (p.Thr19Met)
|
rs1114167307
|
|
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_022154.5(SLC39A8):c.[1019T>A];[112G>C]
|
|
|
NM_022154.5(SLC39A8):c.[97G>A;1004G>C]
|
|
|
NM_022154.5(SLC39A8):c.[97G>A;1004G>C];[c.610G>T]
|
|
|
NM_022167.4(XYLT2):c.520del (p.Ala174fs)
|
rs797044807
|
|
NM_022167.4(XYLT2):c.692dup (p.Val232fs)
|
rs797044806
|
|
NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys)
|
rs62637027
|
|
NM_022787.4(NMNAT1):c.-69C>T
|
rs1175912276
|
|
NM_022787.4(NMNAT1):c.116-2A>G
|
rs1204470176
|
|
NM_022787.4(NMNAT1):c.165C>G (p.Tyr55Ter)
|
|
|
NM_022787.4(NMNAT1):c.1A>G (p.Met1Val)
|
rs756649389
|
|
NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala)
|
rs986437232
|
|
NM_022787.4(NMNAT1):c.254G>A (p.Trp85Ter)
|
|
|
NM_022787.4(NMNAT1):c.255G>A (p.Trp85Ter)
|
rs2101701634
|
|
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met)
|
rs387907294
|
|
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys)
|
rs1271498710
|
|
NM_022787.4(NMNAT1):c.282_283del (p.Glu94fs)
|
|
|
NM_022787.4(NMNAT1):c.299+526_*968dup
|
|
|
NM_022787.4(NMNAT1):c.319G>T (p.Glu107Ter)
|
rs1641936336
|
|
NM_022787.4(NMNAT1):c.364del (p.Arg122fs)
|
rs1413885352
|
|
NM_022787.4(NMNAT1):c.376A>T (p.Lys126Ter)
|
rs1641937559
|
|
NM_022787.4(NMNAT1):c.393_394del (p.Glu131fs)
|
rs2101713372
|
|
NM_022787.4(NMNAT1):c.439+1G>C
|
rs1641939338
|
|
NM_022787.4(NMNAT1):c.439+5G>T
|
rs1641939445
|
|
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe)
|
rs387907292
|
|
NM_022787.4(NMNAT1):c.469del (p.Ala157fs)
|
rs1641966566
|
|
NM_022787.4(NMNAT1):c.500A>G (p.Asn167Ser)
|
rs1405020783
|
|
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr)
|
rs1641970512
|
|
NM_022787.4(NMNAT1):c.643G>T (p.Glu215Ter)
|
rs1345605596
|
|
NM_022787.4(NMNAT1):c.648G>A (p.Trp216Ter)
|
|
|
NM_022787.4(NMNAT1):c.676del (p.Ile226fs)
|
rs763438353
|
|
NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu)
|
rs368062092
|
|
NM_022787.4(NMNAT1):c.721C>T (p.Pro241Ser)
|
|
|
NM_022787.4(NMNAT1):c.838T>C (p.Ter280Gln)
|
rs387907290
|
|
NM_022787.4(NMNAT1):c.[196C>T];[709C>T]
|
|
|
NM_022787.4(NMNAT1):c.[275G>A];[709C>T]
|
|
|
NM_022807.5(SNRPN):c.-390-9497_-390-228del
|
|
|
NM_022893.4(BCL11A):c.295del (p.Val99fs)
|
rs1558519119
|
|
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.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.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_024649.5(BBS1):c.[1285C>T];[908del]
|
|
|
NM_024665.7(TBL1XR1):c.1047+1G>C
|
|
|
NM_024665.7(TBL1XR1):c.1071G>A (p.Trp357Ter)
|
rs2108436501
|
|
NM_024665.7(TBL1XR1):c.1097C>T (p.Ser366Phe)
|
rs2108436373
|
|
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)
|
rs1057517933
|
|
NM_024665.7(TBL1XR1):c.1182T>G (p.Ile394Met)
|
rs973409423
|
|
NM_024665.7(TBL1XR1):c.1195T>A (p.Trp399Arg)
|
rs2108414262
|
|
NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His)
|
rs1553808301
|
|
NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys)
|
rs878854402
|
|
NM_024665.7(TBL1XR1):c.1340G>A (p.Ser447Asn)
|
rs2108407962
|
|
NM_024665.7(TBL1XR1):c.205-7A>G
|
rs1717116134
|
|
NM_024665.7(TBL1XR1):c.208G>T (p.Gly70Cys)
|
|
|
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter)
|
rs1577029680
|
|
NM_024665.7(TBL1XR1):c.327_357dup (p.Gln120fs)
|
rs1577029136
|
|
NM_024665.7(TBL1XR1):c.41del (p.Arg14fs)
|
rs2108539881
|
|
NM_024665.7(TBL1XR1):c.420dup (p.Ile141fs)
|
|
|
NM_024665.7(TBL1XR1):c.626_629del (p.Leu209fs)
|
rs1716848997
|
|
NM_024665.7(TBL1XR1):c.64dup (p.Ser22fs)
|
|
|
NM_024665.7(TBL1XR1):c.776_780dup (p.Thr261fs)
|
|
|
NM_024665.7(TBL1XR1):c.830_831del (p.Lys277fs)
|
|
|
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr)
|
rs1553810255
|
|
NM_024757.5(EHMT1):c.2712+1G>A
|
rs1057518849
|
|
NM_024928.5(STN1):c.404G>C (p.Arg135Thr)
|
rs1057519583
|
|
NM_024928.5(STN1):c.469G>T (p.Asp157Tyr)
|
rs765462548
|
|
NM_025099.6(CTC1):c.1213del (p.Asp405fs)
|
rs1444923772
|
|
NM_025099.6(CTC1):c.2346del (p.Leu783fs)
|
rs761076987
|
|
NM_025099.6(CTC1):c.248_251dup (p.His84fs)
|
rs745467709
|
|
NM_025099.6(CTC1):c.2831del (p.Pro944fs)
|
rs199473677
|
|
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)
|
rs199473679
|
|
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
|
|
|
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter)
|
rs199473682
|
|
NM_025099.6(CTC1):c.371_372dup (p.Glu125fs)
|
|
|
NM_025099.6(CTC1):c.724_727del (p.Lys242fs)
|
rs199473674
|
|
NM_025114.4(CEP290):c.102+1G>T
|
rs2040637111
|
|
NM_025114.4(CEP290):c.1189+1G>A
|
rs2039659434
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_025114.4(CEP290):c.1260_1264del (p.Lys421fs)
|
rs2137919146
|
|
NM_025114.4(CEP290):c.133_136del (p.Gln45fs)
|
rs2138298697
|
|
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)
|
rs771266705
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1623+5G>A
|
rs1555222073
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.1830del (p.Glu610fs)
|
rs992032116
|
|
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs)
|
rs766608755
|
|
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs)
|
rs1033594764
|
|
NM_025114.4(CEP290):c.1910-11T>G
|
rs1555220638
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs)
|
rs62640580
|
|
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs)
|
rs587783010
|
|
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)
|
rs753884599
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.2506G>T (p.Glu836Ter)
|
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
NM_025114.4(CEP290):c.297+1G>A
|
rs878853360
|
|
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs)
|
rs878853362
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)
|
rs587783016
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)
|
rs779645669
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
|
rs757309583
|
|
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)
|
rs62640574
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter)
|
rs1226324483
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs)
|
rs756302731
|
|
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs)
|
rs757609119
|
|
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs)
|
rs749331348
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs)
|
rs281865187
|
|
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)
|
rs1592807018
|
|
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
|
rs727503853
|
|
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)
|
rs281865188
|
|
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter)
|
rs1592784618
|
|
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)
|
rs886042360
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_025114.4(CEP290):c.679_680del (p.Glu227fs)
|
rs62640578
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
|
rs2138086844
|
|
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7341del (p.Lys2447fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.828del (p.Glu277fs)
|
rs1555225566
|
|
NM_025114.4(CEP290):c.[1429C>T];[322C>T]
|
|
|
NM_025114.4(CEP290):c.[1666del];[6012-12T>A]
|
|
|
NM_025114.4(CEP290):c.[3847C>T];[6271-1G>A]
|
|
|
NM_030665.4(RAI1):c.-148-13952_-148-10583del
|
|
|
NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs)
|
rs1598088235
|
|
NM_030665.4(RAI1):c.1449del (p.Glu484fs)
|
|
|
NM_030665.4(RAI1):c.1785dup (p.Arg596fs)
|
|
|
NM_030665.4(RAI1):c.219_226del (p.Ala74fs)
|
|
|
NM_030665.4(RAI1):c.2273G>A (p.Trp758Ter)
|
rs527236033
|
|
NM_030665.4(RAI1):c.2329del (p.Asp777fs)
|
|
|
NM_030665.4(RAI1):c.2396dup (p.Gly800fs)
|
rs2032191929
|
|
NM_030665.4(RAI1):c.2472dup (p.Leu825fs)
|
rs1555565492
|
|
NM_030665.4(RAI1):c.253_271del (p.Leu85fs)
|
|
|
NM_030665.4(RAI1):c.2773_2801del (p.Val925fs)
|
|
|
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs)
|
rs1135401792
|
|
NM_030665.4(RAI1):c.3179_3180del (p.Leu1060fs)
|
rs2032234525
|
|
NM_030665.4(RAI1):c.3192_3195del (p.Glu1065fs)
|
rs1598091391
|
|
NM_030665.4(RAI1):c.3801del (p.Thr1268fs)
|
rs1598092236
|
|
NM_030665.4(RAI1):c.4271del (p.Phe1424fs)
|
rs2143002950
|
|
NM_030665.4(RAI1):c.4317dup (p.Thr1440fs)
|
|
|
NM_030665.4(RAI1):c.4525del (p.Gln1509fs)
|
rs2143003068
|
|
NM_030665.4(RAI1):c.4673dup (p.Arg1559fs)
|
rs1555566042
|
|
NM_030665.4(RAI1):c.4681C>T (p.Arg1561Ter)
|
rs750728463
|
|
NM_030665.4(RAI1):c.4685A>G (p.Gln1562Arg)
|
rs104894634
|
|
NM_030665.4(RAI1):c.4814del (p.Asp1605fs)
|
rs1598093659
|
|
NM_030665.4(RAI1):c.5265del (p.Arg1756fs)
|
|
|
NM_030665.4(RAI1):c.5423G>A (p.Ser1808Asn)
|
rs104894633
|
|
NM_030665.4(RAI1):c.5626dup (p.His1876fs)
|
|
|
NM_030665.4(RAI1):c.848_851del (p.Gln283fs)
|
|
|
NM_030665.4(RAI1):c.868C>T (p.Gln290Ter)
|
rs771803841
|
|
NM_030952.3(NUAK2):c.412_433delinsG (p.Tyr138_Gln145delinsGlu)
|
rs2102647752
|
|
NM_031263.4(HNRNPK):c.1008+1G>A
|
rs1554698658
|
|
NM_031263.4(HNRNPK):c.1040_1041del (p.Ser347fs)
|
|
|
NM_031263.4(HNRNPK):c.1048_1051del (p.Asp350fs)
|
|
|
NM_031263.4(HNRNPK):c.1192-14_1192-2del
|
rs1956767508
|
|
NM_031263.4(HNRNPK):c.1192-7_1192-3del
|
|
|
NM_031263.4(HNRNPK):c.1240C>T (p.Arg414Cys)
|
rs1348162749
|
|
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys)
|
rs1554700678
|
|
NM_031263.4(HNRNPK):c.257+5G>A
|
|
|
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)
|
rs863223403
|
|
NM_031263.4(HNRNPK):c.402+1G>A
|
|
|
NM_031263.4(HNRNPK):c.440T>A (p.Leu147Ter)
|
|
|
NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro)
|
rs1564063967
|
|
NM_031263.4(HNRNPK):c.573_574del (p.Arg191fs)
|
rs1956917064
|
|
NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His)
|
rs1588417800
|
|
NM_031263.4(HNRNPK):c.779dup (p.Phe261_Asp262insTer)
|
rs886041807
|
|
NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter)
|
rs1554698878
|
|
NM_031263.4(HNRNPK):c.931_932insTT (p.Pro311fs)
|
rs879255263
|
|
NM_031263.4(HNRNPK):c.953+1dup
|
rs863223402
|
|
NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter)
|
rs1554698681
|
|
NM_031443.4(CCM2):c.1071_1074dup (p.Glu359delinsProTer)
|
rs2128637642
|
|
NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter)
|
rs767248510
|
|
NM_031443.4(CCM2):c.1234dup (p.Arg412fs)
|
rs1331484727
|
|
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs)
|
rs1562921605
|
|
NM_031443.4(CCM2):c.130_131del (p.Thr44fs)
|
rs1797324598
|
|
NM_031443.4(CCM2):c.147del (p.Leu49fs)
|
rs2128729172
|
|
NM_031443.4(CCM2):c.151G>T (p.Glu51Ter)
|
rs2128729177
|
|
NM_031443.4(CCM2):c.166del (p.Asp56fs)
|
|
|
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)
|
rs1562882049
|
|
NM_031443.4(CCM2):c.169_172del (p.Arg57fs)
|
rs1562882045
|
|
NM_031443.4(CCM2):c.199dup (p.Val67fs)
|
|
|
NM_031443.4(CCM2):c.1A>G (p.Met1Val)
|
rs137852842
|
|
NM_031443.4(CCM2):c.214C>T (p.Gln72Ter)
|
rs886041157
|
|
NM_031443.4(CCM2):c.219_220del (p.Leu73fs)
|
rs1562906798
|
|
NM_031443.4(CCM2):c.228dup (p.Pro77fs)
|
rs2128747319
|
|
NM_031443.4(CCM2):c.23del (p.Gly8fs)
|
rs1562848466
|
|
NM_031443.4(CCM2):c.288+1G>A
|
rs1562906981
|
|
NM_031443.4(CCM2):c.289-1G>A
|
rs1562907365
|
|
NM_031443.4(CCM2):c.298C>T (p.Gln100Ter)
|
rs1259805013
|
|
NM_031443.4(CCM2):c.30+1G>A
|
rs1562848479
|
|
NM_031443.4(CCM2):c.30+5_30+6delinsTT
|
rs797044623
|
|
NM_031443.4(CCM2):c.305dup (p.His104fs)
|
rs2128747608
|
|
NM_031443.4(CCM2):c.30G>A (p.Lys10=)
|
rs1583819255
|
|
NM_031443.4(CCM2):c.319C>T (p.Gln107Ter)
|
rs137852841
|
|
NM_031443.4(CCM2):c.346T>C (p.Ser116Pro)
|
rs1562907616
|
|
NM_031443.4(CCM2):c.354C>A (p.Tyr118Ter)
|
rs765548101
|
|
NM_031443.4(CCM2):c.369dup (p.Trp124fs)
|
|
|
NM_031443.4(CCM2):c.402_405dup (p.Ile136fs)
|
rs1583970495
|
|
NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)
|
rs1554365511
|
|
NM_031443.4(CCM2):c.43delinsATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)
|
|
|
NM_031443.4(CCM2):c.467del (p.Lys156fs)
|
|
|
NM_031443.4(CCM2):c.472+1G>C
|
rs745710633
|
|
NM_031443.4(CCM2):c.473-2A>G
|
rs1798890807
|
|
NM_031443.4(CCM2):c.499C>T (p.Gln167Ter)
|
|
|
NM_031443.4(CCM2):c.499_500del (p.Gln167fs)
|
|
|
NM_031443.4(CCM2):c.50_54del (p.Phe17fs)
|
|
|
NM_031443.4(CCM2):c.528_532del (p.Leu177fs)
|
rs2128749865
|
|
NM_031443.4(CCM2):c.593T>G (p.Leu198Arg)
|
rs137852843
|
|
NM_031443.4(CCM2):c.609G>A (p.Lys203=)
|
rs1562912528
|
|
NM_031443.4(CCM2):c.610-1G>A
|
rs1562913873
|
|
NM_031443.4(CCM2):c.631del (p.Cys211fs)
|
|
|
NM_031443.4(CCM2):c.643C>T (p.Gln215Ter)
|
rs1798970889
|
|
NM_031443.4(CCM2):c.652C>T (p.Gln218Ter)
|
|
|
NM_031443.4(CCM2):c.652del (p.Gln218fs)
|
|
|
NM_031443.4(CCM2):c.663del (p.Val220_Tyr221insTer)
|
|
|
NM_031443.4(CCM2):c.71del (p.Gly24fs)
|
rs1562881854
|
|
NM_031443.4(CCM2):c.745+1G>C
|
rs1583984070
|
|
NM_031443.4(CCM2):c.745+2T>C
|
rs1798979994
|
|
NM_031443.4(CCM2):c.790del (p.Glu264fs)
|
rs1562917629
|
|
NM_031443.4(CCM2):c.83_87del (p.Arg28fs)
|
rs2128729105
|
|
NM_031443.4(CCM2):c.93del (p.Ala32fs)
|
rs2128729110
|
|
NM_031443.4(CCM2):c.970G>T (p.Glu324Ter)
|
rs756276859
|
|
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_032737.4(LMNB2):c.1192G>A (p.Glu398Lys)
|
rs1971791380
|
|
NM_032737.4(LMNB2):c.160A>C (p.Asn54His)
|
rs1972096108
|
|
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_033087.4(ALG2):c.203T>G (p.Val68Gly)
|
rs730882051
|
|
NM_033087.4(ALG2):c.214_224delinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg)
|
rs730882123
|
|
NM_033087.4(ALG2):c.215_225del (p.Gly72fs)
|
rs1828806340
|
|
NM_033163.5(FGF8):c.559_573del (p.Arg187_Gly191del)
|
rs1554834321
|
|
NM_033343.4(LHX4):c.1162C>A (p.Pro388Thr)
|
rs121912644
|
|
NM_033343.4(LHX4):c.293dup (p.Thr99fs)
|
rs587776662
|
|
NM_033343.4(LHX4):c.569T>G (p.Leu190Arg)
|
rs121912643
|
|
NM_033343.4(LHX4):c.607-1G>C
|
rs748268631
|
|
NM_033343.4(LHX4):c.628G>C (p.Ala210Pro)
|
rs121912641
|
|
NM_052867.4(NALCN):c.1489del (p.Tyr497fs)
|
rs869025188
|
|
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter)
|
rs541633673
|
|
NM_052867.4(NALCN):c.1924C>T (p.Gln642Ter)
|
rs587777038
|
|
NM_052867.4(NALCN):c.2022_2023del (p.Cys675fs)
|
|
|
NM_052867.4(NALCN):c.2435dup (p.Glu813fs)
|
rs1594218864
|
|
NM_052867.4(NALCN):c.2629del (p.Gln877fs)
|
rs1594212468
|
|
NM_052867.4(NALCN):c.2758del (p.Ile920fs)
|
rs1594211334
|
|
NM_052867.4(NALCN):c.2889+3_2889+6del
|
rs1594211051
|
|
NM_052867.4(NALCN):c.3056dup (p.Leu1019fs)
|
rs772394714
|
|
NM_052867.4(NALCN):c.321G>A (p.Trp107Ter)
|
rs1594761911
|
|
NM_052867.4(NALCN):c.3269G>A (p.Trp1090Ter)
|
rs1555379886
|
|
NM_052867.4(NALCN):c.3556C>T (p.Gln1186Ter)
|
rs1594168638
|
|
NM_052867.4(NALCN):c.3860G>T (p.Trp1287Leu)
|
rs587777068
|
|
NM_052867.4(NALCN):c.4103+2T>C
|
rs1594146891
|
|
NM_052867.4(NALCN):c.4150C>T (p.Arg1384Ter)
|
rs1031314447
|
|
NM_052867.4(NALCN):c.4281C>A (p.Phe1427Leu)
|
rs1594134160
|
|
NM_052867.4(NALCN):c.4333A>T (p.Ile1445Leu)
|
rs1459166839
|
|
NM_052867.4(NALCN):c.4447-2del
|
|
|
NM_052867.4(NALCN):c.454C>T (p.Arg152Ter)
|
rs774096141
|
|
NM_052867.4(NALCN):c.537del (p.Ile178_Trp179insTer)
|
rs1594759803
|
|
NM_058004.4(PI4KA):c.2330T>C (p.Leu777Pro)
|
rs1490645147
|
|
NM_058004.4(PI4KA):c.2624dup (p.Pro876fs)
|
rs747391554
|
|
NM_058004.4(PI4KA):c.3275C>A (p.Ser1092Ter)
|
rs144933467
|
|
NM_058004.4(PI4KA):c.3571C>T (p.Gln1191Ter)
|
rs2147287553
|
|
NM_058004.4(PI4KA):c.3592G>A (p.Ala1198Thr)
|
rs1929601378
|
|
NM_058004.4(PI4KA):c.5774G>A (p.Gly1925Glu)
|
rs2147171210
|
|
NM_058004.4(PI4KA):c.6065del (p.Arg2022fs)
|
rs1419816068
|
|
NM_058004.4(PI4KA):c.6156_6159del (p.Thr2053fs)
|
rs139598272
|
|
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs)
|
rs587777776
|
|
NM_058179.4(PSAT1):c.107del (p.Gly36fs)
|
rs587777747
|
|
NM_058179.4(PSAT1):c.178del (p.Val60fs)
|
rs1564012541
|
|
NM_058179.4(PSAT1):c.228del (p.Gly77fs)
|
|
|
NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val)
|
rs1057517807
|
|
NM_058179.4(PSAT1):c.357del (p.Thr120fs)
|
|
|
NM_058179.4(PSAT1):c.413del (p.Ser138fs)
|
|
|
NM_058179.4(PSAT1):c.444C>G (p.Tyr148Ter)
|
rs148598272
|
|
NM_058179.4(PSAT1):c.510_514del (p.Ala171fs)
|
|
|
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu)
|
rs587777777
|
|
NM_058179.4(PSAT1):c.76C>T (p.Gln26Ter)
|
|
|
NM_058179.4(PSAT1):c.770G>A (p.Trp257Ter)
|
|
|
NM_058179.4(PSAT1):c.82_83del (p.Glu28fs)
|
|
|
NM_058179.4(PSAT1):c.838G>T (p.Glu280Ter)
|
rs2118681775
|
|
NM_058179.4(PSAT1):c.892A>T (p.Arg298Ter)
|
|
|
NM_058179.4(PSAT1):c.949G>T (p.Glu317Ter)
|
|
|
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs)
|
rs2147783395
|
|
NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter)
|
rs122468181
|
|
NM_080632.3(UPF3B):c.1351del (p.Arg451fs)
|
rs1556377028
|
|
NM_080632.3(UPF3B):c.160delinsAC (p.Val54fs)
|
|
|
NM_080632.3(UPF3B):c.478T>G (p.Tyr160Asp)
|
rs122468182
|
|
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer)
|
rs1603371016
|
|
NM_080632.3(UPF3B):c.670G>T (p.Glu224Ter)
|
rs2147787331
|
|
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)
|
rs794727881
|
|
NM_080632.3(UPF3B):c.697_698del (p.Arg233fs)
|
rs1064794254
|
|
NM_080632.3(UPF3B):c.867_868del (p.Gly290fs)
|
rs1603370185
|
|
NM_080647.1:g.(?_19241636)_(21349222_?)del
|
|
|
NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn)
|
rs1555794286
|
|
NM_130811.4(SNAP25):c.529C>T (p.Gln177Ter)
|
|
|
NM_133259.4(LRPPRC):c.1431T>G (p.Tyr477Ter)
|
rs746627889
|
|
NM_133259.4(LRPPRC):c.2595_2597del (p.Val866del)
|
rs863225444
|
|
NM_133259.4(LRPPRC):c.2723AGA[1] (p.Lys909del)
|
rs863225445
|
|
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs)
|
rs769022521
|
|
NM_133259.4(LRPPRC):c.3900+1G>C
|
rs863225443
|
|
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter)
|
rs148828179
|
|
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)
|
rs149648640
|
|
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_139058.2(ARX):c.304_305ins21 (p.?)
|
|
|
NM_139058.3(ARX):c.1028T>A (p.Leu343Gln)
|
rs104894741
|
|
NM_139058.3(ARX):c.1096del (p.Asp366fs)
|
rs797045289
|
|
NM_139058.3(ARX):c.1117C>T (p.Gln373Ter)
|
rs104894740
|
|
NM_139058.3(ARX):c.1120-82_1469dup
|
|
|
NM_139058.3(ARX):c.1141del (p.Ala381fs)
|
rs1556049694
|
|
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs)
|
rs797045290
|
|
NM_139058.3(ARX):c.1187dup (p.Gly397fs)
|
rs1328291159
|
|
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs)
|
rs2048682798
|
|
NM_139058.3(ARX):c.1337dup (p.Pro447fs)
|
rs797045291
|
|
NM_139058.3(ARX):c.1372del (p.Ala458fs)
|
rs587783187
|
|
NM_139058.3(ARX):c.1414C>T (p.Arg472Ter)
|
rs587783189
|
|
NM_139058.3(ARX):c.1449-82_1469dup
|
rs1556046904
|
|
NM_139058.3(ARX):c.1465del (p.Ala489fs)
|
rs587783191
|
|
NM_139058.3(ARX):c.1471dup (p.Leu491fs)
|
rs797045292
|
|
NM_139058.3(ARX):c.232G>T (p.Glu78Ter)
|
rs267606666
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.335_368del (p.Ala112fs)
|
rs587783199
|
|
NM_139058.3(ARX):c.409dup (p.Glu137fs)
|
rs797045298
|
|
NM_139058.3(ARX):c.424_455del (p.Ala142fs)
|
rs2147324181
|
|
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)
|
rs398124510
|
|
NM_139058.3(ARX):c.525C>G (p.Tyr175Ter)
|
rs1601948603
|
|
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter)
|
rs797045303
|
|
NM_139058.3(ARX):c.617del (p.Gly206fs)
|
rs587783202
|
|
NM_139058.3(ARX):c.790del (p.Arg264fs)
|
rs886043552
|
|
NM_139058.3(ARX):c.956C>A (p.Ser319Ter)
|
rs2048708701
|
|
NM_139058.3(ARX):c.995G>A (p.Arg332His)
|
rs111033612
|
|
NM_139058.3(ARX):c.995G>T (p.Arg332Leu)
|
rs111033612
|
|
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_144499.3(GNAT1):c.113G>A (p.Gly38Asp)
|
rs104893740
|
|
NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly)
|
rs786205854
|
|
NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu)
|
rs786205853
|
|
NM_144628.4(TBC1D20):c.(70+1_71-1)_(*3107+1_?)del
|
|
|
NM_144628.4(TBC1D20):c.199C>T (p.Arg67Ter)
|
rs587777157
|
|
NM_144628.4(TBC1D20):c.292C>T (p.Gln98Ter)
|
rs587777158
|
|
NM_144628.4(TBC1D20):c.352_353del (p.Gln118fs)
|
rs587777159
|
|
NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter)
|
rs587777160
|
|
NM_144643.4(SCLT1):c.1043del (p.Ser348fs)
|
|
|
NM_144988.4(ALG14):c.194C>T (p.Pro65Leu)
|
rs730882050
|
|
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_145178.4(ATOH7):c.136A>C (p.Asn46His)
|
rs587777666
|
|
NM_145178.4(ATOH7):c.146A>T (p.Glu49Val)
|
rs587777664
|
|
NM_145178.4(ATOH7):c.53del (p.Pro18fs)
|
rs587777665
|
|
NM_145200.3(CABP4):c.800_801delAG
|
rs786205249
|
|
NM_145200.5(CABP4):c.154C>T (p.Arg52Ter)
|
rs745382789
|
|
NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs)
|
rs1590998813
|
|
NM_145200.5(CABP4):c.65del (p.Pro22fs)
|
rs775166854
|
|
NM_145200.5(CABP4):c.81_82insA (p.Pro28fs)
|
rs786205852
|
|
NM_152263.4(TPM3):c.118-12G>A
|
|
|
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)
|
rs1571418855
|
|
NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)
|
|
|
NM_152263.4(TPM3):c.455C>T (p.Ala152Val)
|
rs1553249076
|
|
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)
|
rs121964854
|
|
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)
|
rs121964854
|
|
NM_152263.4(TPM3):c.503G>A (p.Arg168His)
|
rs121964852
|
|
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)
|
rs727504181
|
|
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys)
|
rs1553248515
|
|
NM_152263.4(TPM3):c.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_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_152443.3(RDH12):c.106C>T (p.Gln36Ter)
|
|
|
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys)
|
rs28940314
|
|
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn)
|
rs104894473
|
|
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)
|
rs766631462
|
|
NM_152443.3(RDH12):c.178G>A (p.Ala60Thr)
|
|
|
NM_152443.3(RDH12):c.189del (p.Ala64fs)
|
|
|
NM_152443.3(RDH12):c.216_219del (p.Asp72_Val73insTer)
|
|
|
NM_152443.3(RDH12):c.226G>A (p.Gly76Arg)
|
rs368489658
|
|
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)
|
rs368489658
|
|
NM_152443.3(RDH12):c.229G>T (p.Glu77Ter)
|
|
|
NM_152443.3(RDH12):c.272dup (p.Val92fs)
|
|
|
NM_152443.3(RDH12):c.314_318del (p.Ile105fs)
|
|
|
NM_152443.3(RDH12):c.343+1G>A
|
|
|
NM_152443.3(RDH12):c.344-43_421del
|
|
|
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)
|
rs202126574
|
|
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)
|
rs104894474
|
|
NM_152443.3(RDH12):c.38C>A (p.Ser13Ter)
|
rs912107188
|
|
NM_152443.3(RDH12):c.393T>A (p.Cys131Ter)
|
rs755621140
|
|
NM_152443.3(RDH12):c.429_432delinsGGT (p.His143fs)
|
rs2038182629
|
|
NM_152443.3(RDH12):c.43del (p.Leu15fs)
|
rs1167979935
|
|
NM_152443.3(RDH12):c.448+1G>A
|
rs781331005
|
|
NM_152443.3(RDH12):c.448+1G>C
|
rs781331005
|
|
NM_152443.3(RDH12):c.451C>A (p.His151Asn)
|
rs104894475
|
|
NM_152443.3(RDH12):c.488del (p.Lys163fs)
|
rs2038193754
|
|
NM_152443.3(RDH12):c.496del (p.Ala166fs)
|
rs2140145266
|
|
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly)
|
rs761167763
|
|
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)
|
rs761167763
|
|
NM_152443.3(RDH12):c.523T>C (p.Ser175Pro)
|
rs104894472
|
|
NM_152443.3(RDH12):c.524C>A (p.Ser175Ter)
|
rs116733939
|
|
NM_152443.3(RDH12):c.52del (p.Met17_Val18insTer)
|
rs2140138107
|
|
NM_152443.3(RDH12):c.535C>G (p.His179Asp)
|
rs2038195054
|
|
NM_152443.3(RDH12):c.546del (p.Ile183fs)
|
|
|
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter)
|
rs104894470
|
|
NM_152443.3(RDH12):c.580dup (p.Tyr194fs)
|
rs2140145502
|
|
NM_152443.3(RDH12):c.601T>C (p.Cys201Arg)
|
rs2038196341
|
|
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)
|
rs753959716
|
|
NM_152443.3(RDH12):c.616G>A (p.Ala206Thr)
|
rs2140145599
|
|
NM_152443.3(RDH12):c.617C>T (p.Ala206Val)
|
|
|
NM_152443.3(RDH12):c.63_66del (p.Ile22fs)
|
rs794729650
|
|
NM_152443.3(RDH12):c.658+1G>A
|
rs387906272
|
|
NM_152443.3(RDH12):c.659-2A>T
|
rs2038231425
|
|
NM_152443.3(RDH12):c.68+1G>A
|
rs2140138146
|
|
NM_152443.3(RDH12):c.680_683del (p.Ala227fs)
|
rs2038232008
|
|
NM_152443.3(RDH12):c.688C>G (p.Pro230Ala)
|
rs104894476
|
|
NM_152443.3(RDH12):c.697_698dup (p.Arg234fs)
|
|
|
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu)
|
rs2038232911
|
|
NM_152443.3(RDH12):c.715C>T (p.Arg239Trp)
|
rs751589863
|
|
NM_152443.3(RDH12):c.715dup (p.Arg239fs)
|
rs760813820
|
|
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)
|
rs1239043055
|
|
NM_152443.3(RDH12):c.723del (p.Ser242fs)
|
|
|
NM_152443.3(RDH12):c.759del (p.Phe254fs)
|
rs1594867516
|
|
NM_152443.3(RDH12):c.759dup (p.Phe254fs)
|
rs1594867516
|
|
NM_152443.3(RDH12):c.778del (p.Glu260fs)
|
rs527236099
|
|
NM_152443.3(RDH12):c.779dup (p.Ala262fs)
|
|
|
NM_152443.3(RDH12):c.784del (p.Ala262fs)
|
rs1594867551
|
|
NM_152443.3(RDH12):c.784dup (p.Ala262fs)
|
rs1594867551
|
|
NM_152443.3(RDH12):c.796del (p.Leu266fs)
|
|
|
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)
|
rs386834261
|
|
NM_152443.3(RDH12):c.807_813del (p.Leu270fs)
|
|
|
NM_152443.3(RDH12):c.812_813del (p.Ala271fs)
|
rs2140151036
|
|
NM_152443.3(RDH12):c.823G>T (p.Glu275Ter)
|
rs755909719
|
|
NM_152443.3(RDH12):c.829_830del (p.Leu277fs)
|
|
|
NM_152443.3(RDH12):c.843C>G (p.Tyr281Ter)
|
|
|
NM_152443.3(RDH12):c.848+1G>C
|
|
|
NM_152443.3(RDH12):c.848+2T>C
|
rs878853338
|
|
NM_152443.3(RDH12):c.866G>A (p.Trp289Ter)
|
rs2140162488
|
|
NM_152443.3(RDH12):c.867_884del (p.Trp289_Arg295delinsTer)
|
|
|
NM_152443.3(RDH12):c.869dup (p.Ser291fs)
|
rs2038316193
|
|
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)
|
rs200387832
|
|
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)
|
rs878853339
|
|
NM_152443.3(RDH12):c.98del (p.Thr33fs)
|
|
|
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.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.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_152564.5(VPS13B):c.10000_10019dup (p.Pro3341fs)
|
rs2130902516
|
|
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs)
|
rs386834054
|
|
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs)
|
rs1057516324
|
|
NM_152564.5(VPS13B):c.10080del (p.Thr3361fs)
|
|
|
NM_152564.5(VPS13B):c.10087A>T (p.Lys3363Ter)
|
rs1816395005
|
|
NM_152564.5(VPS13B):c.10148C>G (p.Ser3383Ter)
|
rs1014479884
|
|
NM_152564.5(VPS13B):c.10161_10170del (p.Arg3388fs)
|
|
|
NM_152564.5(VPS13B):c.10165_10207del (p.Leu3389fs)
|
rs875989882
|
|
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs)
|
rs1554581267
|
|
NM_152564.5(VPS13B):c.10189del (p.Cys3397fs)
|
|
|
NM_152564.5(VPS13B):c.10209dup (p.Pro3404fs)
|
|
|
NM_152564.5(VPS13B):c.10272T>A (p.Cys3424Ter)
|
|
|
NM_152564.5(VPS13B):c.10327del (p.Val3443fs)
|
rs1816408985
|
|
NM_152564.5(VPS13B):c.1034G>A (p.Trp345Ter)
|
|
|
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)
|
rs180177371
|
|
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs)
|
rs1816414644
|
|
NM_152564.5(VPS13B):c.1043G>A (p.Trp348Ter)
|
rs2132516120
|
|
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs)
|
rs1554581504
|
|
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter)
|
rs1847921335
|
|
NM_152564.5(VPS13B):c.10544_10545delinsGA (p.Tyr3515Ter)
|
|
|
NM_152564.5(VPS13B):c.10557del (p.Leu3519fs)
|
rs1816422602
|
|
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs)
|
rs1354326532
|
|
NM_152564.5(VPS13B):c.10636C>T (p.Gln3546Ter)
|
|
|
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
|
|
|
NM_152564.5(VPS13B):c.10696C>T (p.Gln3566Ter)
|
rs2130918298
|
|
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter)
|
rs1057520769
|
|
NM_152564.5(VPS13B):c.10812del (p.Arg3604fs)
|
|
|
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter)
|
rs120074154
|
|
NM_152564.5(VPS13B):c.10892_10893del (p.Ile3631fs)
|
|
|
NM_152564.5(VPS13B):c.10936del (p.Val3646fs)
|
rs2130933596
|
|
NM_152564.5(VPS13B):c.10975del (p.Arg3659fs)
|
rs1816713664
|
|
NM_152564.5(VPS13B):c.10982del (p.Pro3661fs)
|
rs2130933734
|
|
NM_152564.5(VPS13B):c.11016del (p.Thr3673fs)
|
|
|
NM_152564.5(VPS13B):c.11044+2T>C
|
rs587777382
|
|
NM_152564.5(VPS13B):c.11047del (p.Thr3683fs)
|
rs2130941591
|
|
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs)
|
rs386834058
|
|
NM_152564.5(VPS13B):c.11083del (p.Ala3695fs)
|
|
|
NM_152564.5(VPS13B):c.11124C>G (p.Tyr3708Ter)
|
rs2130941863
|
|
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter)
|
rs386834060
|
|
NM_152564.5(VPS13B):c.11158G>T (p.Glu3720Ter)
|
|
|
NM_152564.5(VPS13B):c.11179C>T (p.Arg3727Ter)
|
|
|
NM_152564.5(VPS13B):c.11216-2A>G
|
rs867112705
|
|
NM_152564.5(VPS13B):c.1122del (p.Met375fs)
|
|
|
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs)
|
rs1347701279
|
|
NM_152564.5(VPS13B):c.11252del (p.Asn3751fs)
|
rs2130962934
|
|
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs)
|
rs1057516245
|
|
NM_152564.5(VPS13B):c.11275C>T (p.Gln3759Ter)
|
|
|
NM_152564.5(VPS13B):c.11298dup (p.Lys3767fs)
|
|
|
NM_152564.5(VPS13B):c.11315del (p.Gly3772fs)
|
|
|
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)
|
rs1554586953
|
|
NM_152564.5(VPS13B):c.11352dup (p.Ile3785fs)
|
|
|
NM_152564.5(VPS13B):c.11411dup (p.Leu3805fs)
|
rs1588810676
|
|
NM_152564.5(VPS13B):c.11413_11414del (p.Leu3805fs)
|
|
|
NM_152564.5(VPS13B):c.11416dup (p.Ser3806fs)
|
|
|
NM_152564.5(VPS13B):c.11419C>T (p.Gln3807Ter)
|
rs2130972411
|
|
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs)
|
rs1588810695
|
|
NM_152564.5(VPS13B):c.11431C>T (p.Gln3811Ter)
|
|
|
NM_152564.5(VPS13B):c.11438_11450del (p.His3813fs)
|
rs2130972502
|
|
NM_152564.5(VPS13B):c.11453_11454insC (p.His3819fs)
|
|
|
NM_152564.5(VPS13B):c.11473_11476del (p.Asn3825fs)
|
rs2130972632
|
|
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs)
|
rs386834064
|
|
NM_152564.5(VPS13B):c.11496-2A>G
|
rs1554588353
|
|
NM_152564.5(VPS13B):c.11496G>A (p.Trp3832Ter)
|
|
|
NM_152564.5(VPS13B):c.11506_11507del (p.Gln3836fs)
|
|
|
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter)
|
rs1554625838
|
|
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs)
|
rs1588811810
|
|
NM_152564.5(VPS13B):c.11524_11525del (p.Glu3842fs)
|
|
|
NM_152564.5(VPS13B):c.11602G>T (p.Glu3868Ter)
|
|
|
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)
|
rs386834066
|
|
NM_152564.5(VPS13B):c.11625_11628del (p.Ser3876fs)
|
rs2130975687
|
|
NM_152564.5(VPS13B):c.11638C>T (p.Gln3880Ter)
|
|
|
NM_152564.5(VPS13B):c.11655del (p.Val3886fs)
|
rs1212294259
|
|
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)
|
rs1180933570
|
|
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)
|
rs1161589003
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.11725dup (p.Arg3909fs)
|
rs2130976122
|
|
NM_152564.5(VPS13B):c.11727_11728del (p.Arg3909fs)
|
rs2130976129
|
|
NM_152564.5(VPS13B):c.11774_11775del (p.Glu3925fs)
|
rs755827237
|
|
NM_152564.5(VPS13B):c.11776C>T (p.Gln3926Ter)
|
|
|
NM_152564.5(VPS13B):c.11804_11808dup (p.Lys3937fs)
|
rs1263684271
|
|
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs)
|
rs1371736348
|
|
NM_152564.5(VPS13B):c.11809_11812dup (p.Thr3938fs)
|
|
|
NM_152564.5(VPS13B):c.11810del (p.Lys3937fs)
|
rs1371736348
|
|
NM_152564.5(VPS13B):c.11815_11822del (p.Ser3939fs)
|
|
|
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs)
|
rs386834069
|
|
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)
|
rs786204456
|
|
NM_152564.5(VPS13B):c.11832del (p.Ser3945fs)
|
|
|
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs)
|
rs180177374
|
|
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter)
|
rs773094891
|
|
NM_152564.5(VPS13B):c.11839_11842dup (p.Ser3948fs)
|
rs1817657601
|
|
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs)
|
rs1554590433
|
|
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs)
|
rs1057517328
|
|
NM_152564.5(VPS13B):c.11886dup (p.Ser3963fs)
|
|
|
NM_152564.5(VPS13B):c.11894_11895dup (p.Lys3966fs)
|
|
|
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)
|
rs386834070
|
|
NM_152564.5(VPS13B):c.1246C>T (p.Gln416Ter)
|
rs1809977682
|
|
NM_152564.5(VPS13B):c.1261A>T (p.Lys421Ter)
|
|
|
NM_152564.5(VPS13B):c.1264G>T (p.Glu422Ter)
|
|
|
NM_152564.5(VPS13B):c.1277G>A (p.Trp426Ter)
|
|
|
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer)
|
rs1408744761
|
|
NM_152564.5(VPS13B):c.1318G>T (p.Glu440Ter)
|
|
|
NM_152564.5(VPS13B):c.1366del (p.Cys456fs)
|
rs2132555225
|
|
NM_152564.5(VPS13B):c.1378del (p.Ile460fs)
|
rs1810006084
|
|
NM_152564.5(VPS13B):c.1406del (p.Asn469fs)
|
|
|
NM_152564.5(VPS13B):c.1418del (p.Ser473fs)
|
|
|
NM_152564.5(VPS13B):c.142G>T (p.Glu48Ter)
|
|
|
NM_152564.5(VPS13B):c.1436dup (p.Phe480fs)
|
|
|
NM_152564.5(VPS13B):c.145C>T (p.Gln49Ter)
|
rs2132125704
|
|
NM_152564.5(VPS13B):c.1479C>A (p.Tyr493Ter)
|
|
|
NM_152564.5(VPS13B):c.1482del (p.Thr495fs)
|
rs2132556658
|
|
NM_152564.5(VPS13B):c.1483dup (p.Thr495fs)
|
|
|
NM_152564.5(VPS13B):c.1527del (p.Arg510fs)
|
rs2132556766
|
|
NM_152564.5(VPS13B):c.154A>T (p.Lys52Ter)
|
|
|
NM_152564.5(VPS13B):c.1604del (p.Ala535fs)
|
rs1810088202
|
|
NM_152564.5(VPS13B):c.163_166del (p.Phe55fs)
|
|
|
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs)
|
rs1057517177
|
|
NM_152564.5(VPS13B):c.1732del (p.Val578fs)
|
rs2132581182
|
|
NM_152564.5(VPS13B):c.1755_1759dup (p.Asp587fs)
|
rs1810518393
|
|
NM_152564.5(VPS13B):c.1757T>A (p.Leu586Ter)
|
rs2132581276
|
|
NM_152564.5(VPS13B):c.1762del (p.Ser588fs)
|
rs2132581325
|
|
NM_152564.5(VPS13B):c.178G>T (p.Gly60Ter)
|
|
|
NM_152564.5(VPS13B):c.1819G>T (p.Glu607Ter)
|
|
|
NM_152564.5(VPS13B):c.1996_2006del (p.Val666fs)
|
|
|
NM_152564.5(VPS13B):c.2012_2013dup (p.Asn672fs)
|
|
|
NM_152564.5(VPS13B):c.2014-2A>G
|
rs1588095580
|
|
NM_152564.5(VPS13B):c.2047del (p.Gln683fs)
|
rs386834074
|
|
NM_152564.5(VPS13B):c.2107dup (p.Ser703fs)
|
rs1811379645
|
|
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)
|
rs777593389
|
|
NM_152564.5(VPS13B):c.2190T>A (p.Tyr730Ter)
|
|
|
NM_152564.5(VPS13B):c.2190T>G (p.Tyr730Ter)
|
|
|
NM_152564.5(VPS13B):c.2274del (p.Val759fs)
|
|
|
NM_152564.5(VPS13B):c.2321_2322del (p.Leu774fs)
|
rs2132663525
|
|
NM_152564.5(VPS13B):c.2334G>A (p.Trp778Ter)
|
rs2132727940
|
|
NM_152564.5(VPS13B):c.2347_2348del (p.Gln783fs)
|
rs1813682416
|
|
NM_152564.5(VPS13B):c.2381del (p.Pro794fs)
|
rs2132728101
|
|
NM_152564.5(VPS13B):c.2387_2388del (p.Leu796fs)
|
rs2132728144
|
|
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter)
|
rs869312923
|
|
NM_152564.5(VPS13B):c.2425C>T (p.Gln809Ter)
|
rs2132728269
|
|
NM_152564.5(VPS13B):c.2445G>A (p.Trp815Ter)
|
|
|
NM_152564.5(VPS13B):c.2507del (p.Leu836fs)
|
|
|
NM_152564.5(VPS13B):c.2513_2514del (p.Ile838fs)
|
rs2132728587
|
|
NM_152564.5(VPS13B):c.2521A>T (p.Lys841Ter)
|
|
|
NM_152564.5(VPS13B):c.2527_2528insT (p.Lys843fs)
|
rs1818768251
|
|
NM_152564.5(VPS13B):c.2536del (p.Leu846fs)
|
rs1818768394
|
|
NM_152564.5(VPS13B):c.2558del (p.Ile853fs)
|
|
|
NM_152564.5(VPS13B):c.2560C>T (p.Gln854Ter)
|
rs2132994876
|
|
NM_152564.5(VPS13B):c.2583C>A (p.Cys861Ter)
|
rs199868590
|
|
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)
|
rs140936527
|
|
NM_152564.5(VPS13B):c.259del (p.Glu87fs)
|
|
|
NM_152564.5(VPS13B):c.2651-1G>A
|
rs386834077
|
|
NM_152564.5(VPS13B):c.2723del (p.Lys908fs)
|
|
|
NM_152564.5(VPS13B):c.2750_2751del (p.Glu917fs)
|
|
|
NM_152564.5(VPS13B):c.276del (p.Lys93fs)
|
|
|
NM_152564.5(VPS13B):c.2771del (p.Asp923_Leu924insTer)
|
|
|
NM_152564.5(VPS13B):c.2778del (p.Phe927fs)
|
rs1818830393
|
|
NM_152564.5(VPS13B):c.285dup (p.Ile96fs)
|
|
|
NM_152564.5(VPS13B):c.2879T>G (p.Leu960Ter)
|
rs775378782
|
|
NM_152564.5(VPS13B):c.2905C>T (p.Gln969Ter)
|
rs2133295344
|
|
NM_152564.5(VPS13B):c.292-1G>A
|
rs1057520768
|
|
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter)
|
rs1563700205
|
|
NM_152564.5(VPS13B):c.2935C>T (p.Gln979Ter)
|
|
|
NM_152564.5(VPS13B):c.2963dup (p.Met988fs)
|
|
|
NM_152564.5(VPS13B):c.2989dup (p.Glu997fs)
|
rs2133312597
|
|
NM_152564.5(VPS13B):c.3025C>T (p.Gln1009Ter)
|
rs2133312718
|
|
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer)
|
rs1057516670
|
|
NM_152564.5(VPS13B):c.3032_3033del (p.Tyr1011fs)
|
|
|
NM_152564.5(VPS13B):c.3068del (p.Thr1023fs)
|
rs2133312827
|
|
NM_152564.5(VPS13B):c.3151G>T (p.Glu1051Ter)
|
rs2133412405
|
|
NM_152564.5(VPS13B):c.3194_3198del (p.Lys1065fs)
|
rs2133412472
|
|
NM_152564.5(VPS13B):c.3208del (p.Gln1070fs)
|
|
|
NM_152564.5(VPS13B):c.3214G>T (p.Glu1072Ter)
|
|
|
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs)
|
|
|
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)
|
rs764544747
|
|
NM_152564.5(VPS13B):c.3307_3310dup (p.Tyr1104fs)
|
|
|
NM_152564.5(VPS13B):c.3308G>A (p.Trp1103Ter)
|
|
|
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
NM_152564.5(VPS13B):c.3390T>A (p.Tyr1130Ter)
|
|
|
NM_152564.5(VPS13B):c.3394G>T (p.Glu1132Ter)
|
|
|
NM_152564.5(VPS13B):c.3446-23T>G
|
rs2133510569
|
|
NM_152564.5(VPS13B):c.3461G>A (p.Trp1154Ter)
|
rs2133510708
|
|
NM_152564.5(VPS13B):c.3492_3493dup (p.Thr1165fs)
|
rs2133510772
|
|
NM_152564.5(VPS13B):c.3496del (p.Leu1166fs)
|
|
|
NM_152564.5(VPS13B):c.3501_3502insAA (p.Gly1168fs)
|
|
|
NM_152564.5(VPS13B):c.3522C>A (p.Cys1174Ter)
|
|
|
NM_152564.5(VPS13B):c.3554_3555dup (p.Ala1186Ter)
|
|
|
NM_152564.5(VPS13B):c.3579del (p.Ala1194fs)
|
|
|
NM_152564.5(VPS13B):c.3664C>T (p.Gln1222Ter)
|
rs2133511511
|
|
NM_152564.5(VPS13B):c.3666+2T>C
|
rs386834082
|
|
NM_152564.5(VPS13B):c.3682G>T (p.Glu1228Ter)
|
|
|
NM_152564.5(VPS13B):c.3701del (p.Asn1234fs)
|
rs1820043726
|
|
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs)
|
rs753645306
|
|
NM_152564.5(VPS13B):c.3881_3882del (p.Ile1294fs)
|
rs2133609624
|
|
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs)
|
rs1057516653
|
|
NM_152564.5(VPS13B):c.3974G>A (p.Trp1325Ter)
|
rs2133609831
|
|
NM_152564.5(VPS13B):c.3999del (p.Thr1334fs)
|
|
|
NM_152564.5(VPS13B):c.4006_4007insTT (p.Lys1336fs)
|
|
|
NM_152564.5(VPS13B):c.4050_4053del (p.Cys1350fs)
|
rs1821315647
|
|
NM_152564.5(VPS13B):c.412+1G>T
|
rs1057517295
|
|
NM_152564.5(VPS13B):c.413-2A>G
|
rs2132453775
|
|
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs)
|
rs1057517076
|
|
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs)
|
rs386834084
|
|
NM_152564.5(VPS13B):c.4267_4273del (p.Phe1423fs)
|
|
|
NM_152564.5(VPS13B):c.4413del (p.Gln1472fs)
|
|
|
NM_152564.5(VPS13B):c.4529_4535dup (p.His1512fs)
|
rs2133637853
|
|
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs)
|
rs1554826566
|
|
NM_152564.5(VPS13B):c.4545del (p.Ser1516fs)
|
rs1057518939
|
|
NM_152564.5(VPS13B):c.4609_4610del (p.Glu1537fs)
|
rs1554826615
|
|
NM_152564.5(VPS13B):c.4651G>T (p.Glu1551Ter)
|
|
|
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs)
|
rs386834090
|
|
NM_152564.5(VPS13B):c.468_471del (p.Asn157fs)
|
rs1588038825
|
|
NM_152564.5(VPS13B):c.4717A>T (p.Arg1573Ter)
|
rs1822355402
|
|
NM_152564.5(VPS13B):c.4745+1G>C
|
|
|
NM_152564.5(VPS13B):c.4745+2T>C
|
rs386834091
|
|
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter)
|
rs752429062
|
|
NM_152564.5(VPS13B):c.4807C>T (p.Gln1603Ter)
|
rs2133764725
|
|
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn)
|
|
|
NM_152564.5(VPS13B):c.483del (p.Lys161fs)
|
rs2132453991
|
|
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter)
|
rs180177360
|
|
NM_152564.5(VPS13B):c.4876_4877del (p.Val1626fs)
|
rs1588491595
|
|
NM_152564.5(VPS13B):c.4903G>T (p.Glu1635Ter)
|
|
|
NM_152564.5(VPS13B):c.4934G>A (p.Trp1645Ter)
|
|
|
NM_152564.5(VPS13B):c.4949+2T>G
|
|
|
NM_152564.5(VPS13B):c.4959del (p.His1654fs)
|
rs1166814614
|
|
NM_152564.5(VPS13B):c.4997del (p.Thr1666fs)
|
rs2133808512
|
|
NM_152564.5(VPS13B):c.5091_5092del (p.Cys1697fs)
|
|
|
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs)
|
rs1563806122
|
|
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs)
|
rs1554853667
|
|
NM_152564.5(VPS13B):c.5163dup (p.His1722fs)
|
|
|
NM_152564.5(VPS13B):c.5171del (p.Gln1723_Leu1724insTer)
|
rs1434257397
|
|
NM_152564.5(VPS13B):c.5197del (p.Glu1733fs)
|
|
|
NM_152564.5(VPS13B):c.5197dup (p.Glu1733fs)
|
|
|
NM_152564.5(VPS13B):c.5233G>T (p.Glu1745Ter)
|
|
|
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs)
|
rs752399634
|
|
NM_152564.5(VPS13B):c.5342dup (p.Gln1782fs)
|
rs1588579347
|
|
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs)
|
rs180177363
|
|
NM_152564.5(VPS13B):c.5354_5375del (p.Gln1785fs)
|
rs1829386577
|
|
NM_152564.5(VPS13B):c.5391dup (p.Ser1798fs)
|
|
|
NM_152564.5(VPS13B):c.541dup (p.Val181fs)
|
|
|
NM_152564.5(VPS13B):c.5433del (p.Phe1812fs)
|
|
|
NM_152564.5(VPS13B):c.547G>T (p.Glu183Ter)
|
rs1227284058
|
|
NM_152564.5(VPS13B):c.5518A>T (p.Lys1840Ter)
|
|
|
NM_152564.5(VPS13B):c.5527G>T (p.Glu1843Ter)
|
|
|
NM_152564.5(VPS13B):c.5533dup (p.Thr1845fs)
|
rs1176397159
|
|
NM_152564.5(VPS13B):c.5540dup (p.Ser1848fs)
|
rs386834095
|
|
NM_152564.5(VPS13B):c.5577del (p.Ala1860fs)
|
|
|
NM_152564.5(VPS13B):c.5588_5589del (p.Asn1863fs)
|
|
|
NM_152564.5(VPS13B):c.5593_5614del (p.Ala1865fs)
|
|
|
NM_152564.5(VPS13B):c.5599del (p.Ile1867fs)
|
|
|
NM_152564.5(VPS13B):c.5617G>T (p.Glu1873Ter)
|
|
|
NM_152564.5(VPS13B):c.5627_5628insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAAAGATCTCTT (p.Leu1876delinsPhePhePhePhePhePhePheXaaXaaXaaXaaHisMetTyrThrCysAlaMetLeuValArgCysThrHisTer)
|
|
|
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs)
|
rs386834096
|
|
NM_152564.5(VPS13B):c.5705C>A (p.Ser1902Ter)
|
|
|
NM_152564.5(VPS13B):c.5719del (p.Ala1907fs)
|
|
|
NM_152564.5(VPS13B):c.572del (p.Asp191fs)
|
rs1588038976
|
|
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)
|
rs386834098
|
|
NM_152564.5(VPS13B):c.5771del (p.Leu1924fs)
|
rs2133932364
|
|
NM_152564.5(VPS13B):c.5836_5840del (p.Arg1946fs)
|
rs2133932487
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs)
|
rs886041323
|
|
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs)
|
rs755125969
|
|
NM_152564.5(VPS13B):c.5931del (p.Ala1978fs)
|
rs2129763497
|
|
NM_152564.5(VPS13B):c.5936_5937dup (p.Asp1980fs)
|
rs2129763561
|
|
NM_152564.5(VPS13B):c.5946C>A (p.Cys1982Ter)
|
|
|
NM_152564.5(VPS13B):c.5955G>A (p.Trp1985Ter)
|
rs1554892040
|
|
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
|
|
|
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)
|
rs1357171752
|
|
NM_152564.5(VPS13B):c.6019C>T (p.Gln2007Ter)
|
|
|
NM_152564.5(VPS13B):c.6046+1G>C
|
rs750003804
|
|
NM_152564.5(VPS13B):c.6068C>G (p.Ser2023Ter)
|
|
|
NM_152564.5(VPS13B):c.6074del (p.Pro2025fs)
|
|
|
NM_152564.5(VPS13B):c.6118del (p.Leu2040fs)
|
rs2130179621
|
|
NM_152564.5(VPS13B):c.6140dup (p.Asn2047fs)
|
rs2130179734
|
|
NM_152564.5(VPS13B):c.6147_6148del (p.His2049fs)
|
rs1588635717
|
|
NM_152564.5(VPS13B):c.6183del (p.Asn2062fs)
|
|
|
NM_152564.5(VPS13B):c.6201_6210del (p.Lys2067fs)
|
rs2130180236
|
|
NM_152564.5(VPS13B):c.6226dup (p.Tyr2076fs)
|
|
|
NM_152564.5(VPS13B):c.6228C>A (p.Tyr2076Ter)
|
|
|
NM_152564.5(VPS13B):c.6289_6295del (p.Glu2097fs)
|
|
|
NM_152564.5(VPS13B):c.6299_6308del (p.Trp2100fs)
|
rs1554911731
|
|
NM_152564.5(VPS13B):c.6302_6303insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAACATGTGGAG (p.Arg2101_Ala2102insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluAsnMetTrpArg)
|
rs2130180694
|
|
NM_152564.5(VPS13B):c.6315C>A (p.Cys2105Ter)
|
rs2130181003
|
|
NM_152564.5(VPS13B):c.6329_6330del (p.Ser2110fs)
|
|
|
NM_152564.5(VPS13B):c.6330del (p.Val2111fs)
|
|
|
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter)
|
rs1057516287
|
|
NM_152564.5(VPS13B):c.6381del (p.Ser2127fs)
|
|
|
NM_152564.5(VPS13B):c.6395T>A (p.Leu2132Ter)
|
rs2130181483
|
|
NM_152564.5(VPS13B):c.6412del (p.Leu2138fs)
|
|
|
NM_152564.5(VPS13B):c.6447del (p.Val2150fs)
|
rs2130181658
|
|
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter)
|
rs1057516494
|
|
NM_152564.5(VPS13B):c.6470C>G (p.Ser2157Ter)
|
|
|
NM_152564.5(VPS13B):c.6503T>G (p.Leu2168Arg)
|
rs120074149
|
|
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs)
|
rs1057517318
|
|
NM_152564.5(VPS13B):c.6523_6526del (p.Arg2175fs)
|
|
|
NM_152564.5(VPS13B):c.6552dup (p.Ala2185fs)
|
|
|
NM_152564.5(VPS13B):c.6578_6579insTA (p.Trp2193fs)
|
rs1554922054
|
|
NM_152564.5(VPS13B):c.6625dup (p.Ile2209fs)
|
rs2130317561
|
|
NM_152564.5(VPS13B):c.6647_6653del (p.Gly2216fs)
|
|
|
NM_152564.5(VPS13B):c.664G>T (p.Glu222Ter)
|
rs2132481787
|
|
NM_152564.5(VPS13B):c.6657+1G>T
|
rs180177366
|
|
NM_152564.5(VPS13B):c.6657+2T>C
|
rs1832966881
|
|
NM_152564.5(VPS13B):c.6689del (p.Cys2229_Leu2230insTer)
|
|
|
NM_152564.5(VPS13B):c.6697_6698del (p.Leu2233fs)
|
|
|
NM_152564.5(VPS13B):c.6731del (p.Glu2244fs)
|
rs1833089251
|
|
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs)
|
rs761736983
|
|
NM_152564.5(VPS13B):c.6834dup (p.Thr2279fs)
|
|
|
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter)
|
rs1833092121
|
|
NM_152564.5(VPS13B):c.6865+1G>T
|
rs202046738
|
|
NM_152564.5(VPS13B):c.6882del (p.Val2296fs)
|
|
|
NM_152564.5(VPS13B):c.6979del (p.Arg2326_Ile2327insTer)
|
|
|
NM_152564.5(VPS13B):c.7020del (p.Ser2341fs)
|
rs1833108141
|
|
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter)
|
rs767858119
|
|
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter)
|
rs1057516559
|
|
NM_152564.5(VPS13B):c.7099del (p.Ala2367fs)
|
rs1554948192
|
|
NM_152564.5(VPS13B):c.709_713del (p.Arg237fs)
|
|
|
NM_152564.5(VPS13B):c.7135del (p.Cys2379fs)
|
rs2130621458
|
|
NM_152564.5(VPS13B):c.7144C>T (p.Gln2382Ter)
|
|
|
NM_152564.5(VPS13B):c.7184T>G (p.Leu2395Ter)
|
|
|
NM_152564.5(VPS13B):c.7190del (p.Ser2397fs)
|
|
|
NM_152564.5(VPS13B):c.7191_7192del (p.Ser2398fs)
|
rs1811255718
|
|
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs)
|
rs886041184
|
|
NM_152564.5(VPS13B):c.7247+2T>C
|
rs1563908020
|
|
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs)
|
rs1554952465
|
|
NM_152564.5(VPS13B):c.7447C>T (p.Gln2483Ter)
|
rs980463746
|
|
NM_152564.5(VPS13B):c.7498_7501del (p.Val2500fs)
|
|
|
NM_152564.5(VPS13B):c.7555C>T (p.Gln2519Ter)
|
|
|
NM_152564.5(VPS13B):c.7558G>T (p.Glu2520Ter)
|
rs2130678821
|
|
NM_152564.5(VPS13B):c.7564del (p.Gln2522fs)
|
|
|
NM_152564.5(VPS13B):c.7568_7569delinsAA (p.Phe2523Ter)
|
|
|
NM_152564.5(VPS13B):c.7576C>T (p.Gln2526Ter)
|
rs1811869155
|
|
NM_152564.5(VPS13B):c.763-2118G>T
|
|
|
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter)
|
rs2130679206
|
|
NM_152564.5(VPS13B):c.7683del (p.Lys2561fs)
|
rs771308343
|
|
NM_152564.5(VPS13B):c.7732C>T (p.Gln2578Ter)
|
|
|
NM_152564.5(VPS13B):c.7734_7746del (p.Gln2578fs)
|
rs2130679794
|
|
NM_152564.5(VPS13B):c.7777del (p.Gln2593fs)
|
rs2130680017
|
|
NM_152564.5(VPS13B):c.7828del (p.Cys2610fs)
|
rs1812158350
|
|
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp)
|
rs120074153
|
|
NM_152564.5(VPS13B):c.7864del (p.Val2622fs)
|
|
|
NM_152564.5(VPS13B):c.7919G>A (p.Trp2640Ter)
|
rs2130702734
|
|
NM_152564.5(VPS13B):c.7946T>A (p.Leu2649Ter)
|
rs2130785617
|
|
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs)
|
rs1554622608
|
|
NM_152564.5(VPS13B):c.7982G>A (p.Trp2661Ter)
|
|
|
NM_152564.5(VPS13B):c.7985C>G (p.Ser2662Ter)
|
rs1813585665
|
|
NM_152564.5(VPS13B):c.8015del (p.Thr2672fs)
|
|
|
NM_152564.5(VPS13B):c.8032C>T (p.Gln2678Ter)
|
|
|
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs)
|
rs1554560735
|
|
NM_152564.5(VPS13B):c.8070del (p.Gln2691fs)
|
rs1813589674
|
|
NM_152564.5(VPS13B):c.8133C>G (p.Tyr2711Ter)
|
|
|
NM_152564.5(VPS13B):c.8140C>T (p.Gln2714Ter)
|
|
|
NM_152564.5(VPS13B):c.8143dup (p.Ser2715fs)
|
rs2130810644
|
|
NM_152564.5(VPS13B):c.816dup (p.Met273fs)
|
rs1554622647
|
|
NM_152564.5(VPS13B):c.817_818del (p.Met273fs)
|
rs2132497770
|
|
NM_152564.5(VPS13B):c.8194del (p.Ala2731_Val2732insTer)
|
|
|
NM_152564.5(VPS13B):c.8206_8207dup (p.Phe2737fs)
|
|
|
NM_152564.5(VPS13B):c.8215dup (p.Cys2739fs)
|
|
|
NM_152564.5(VPS13B):c.8230C>T (p.Gln2744Ter)
|
rs2130810847
|
|
NM_152564.5(VPS13B):c.8285del (p.Lys2762fs)
|
|
|
NM_152564.5(VPS13B):c.8287del (p.Ala2763fs)
|
rs1554565645
|
|
NM_152564.5(VPS13B):c.8309C>G (p.Ser2770Ter)
|
|
|
NM_152564.5(VPS13B):c.8341G>T (p.Glu2781Ter)
|
rs1379711249
|
|
NM_152564.5(VPS13B):c.8346_8350del (p.Ser2783fs)
|
|
|
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr)
|
rs120074155
|
|
NM_152564.5(VPS13B):c.8386dup (p.Ile2796fs)
|
|
|
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter)
|
rs1057516484
|
|
NM_152564.5(VPS13B):c.8420_8426delinsGA (p.Pro2807fs)
|
|
|
NM_152564.5(VPS13B):c.8421del (p.Asn2808fs)
|
rs1588743576
|
|
NM_152564.5(VPS13B):c.8430del (p.Val2811fs)
|
rs2130813174
|
|
NM_152564.5(VPS13B):c.8437C>T (p.Gln2813Ter)
|
rs2130813187
|
|
NM_152564.5(VPS13B):c.8446-1G>T
|
rs1554566596
|
|
NM_152564.5(VPS13B):c.8461_8462del (p.Leu2821fs)
|
rs2130813849
|
|
NM_152564.5(VPS13B):c.8494_8495del (p.Ile2832fs)
|
rs2130813916
|
|
NM_152564.5(VPS13B):c.8496del (p.Ile2833fs)
|
rs2130813918
|
|
NM_152564.5(VPS13B):c.8505_8538dup (p.Gln2847delinsPheGlyGluLysGluSerGlyIleGluTer)
|
rs2130813950
|
|
NM_152564.5(VPS13B):c.8522dup (p.Leu2843fs)
|
|
|
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs)
|
rs765302278
|
|
NM_152564.5(VPS13B):c.855C>A (p.Tyr285Ter)
|
rs1256482530
|
|
NM_152564.5(VPS13B):c.8560C>T (p.Gln2854Ter)
|
rs2130814064
|
|
NM_152564.5(VPS13B):c.8622-2A>G
|
rs386834115
|
|
NM_152564.5(VPS13B):c.8622-9A>G
|
rs386834116
|
|
NM_152564.5(VPS13B):c.865del (p.Glu288_Ile289insTer)
|
rs2132497933
|
|
NM_152564.5(VPS13B):c.8710del (p.Val2904fs)
|
|
|
NM_152564.5(VPS13B):c.8741_8756del (p.Pro2914fs)
|
|
|
NM_152564.5(VPS13B):c.8750C>A (p.Ser2917Ter)
|
|
|
NM_152564.5(VPS13B):c.8766G>A (p.Trp2922Ter)
|
rs2130816341
|
|
NM_152564.5(VPS13B):c.8855_8856del (p.Tyr2952fs)
|
rs2130817575
|
|
NM_152564.5(VPS13B):c.8859_8862dup (p.Thr2955Ter)
|
rs2130817608
|
|
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter)
|
rs727504219
|
|
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter)
|
rs797046098
|
|
NM_152564.5(VPS13B):c.896del (p.Asp299fs)
|
rs2132498049
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs)
|
rs1057516538
|
|
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)
|
rs759536357
|
|
NM_152564.5(VPS13B):c.9089G>A (p.Trp3030Ter)
|
|
|
NM_152564.5(VPS13B):c.9090G>A (p.Trp3030Ter)
|
|
|
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs)
|
rs386834117
|
|
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs)
|
rs1057516789
|
|
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)
|
rs180177329
|
|
NM_152564.5(VPS13B):c.9280del (p.Ile3094fs)
|
|
|
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs)
|
rs773945333
|
|
NM_152564.5(VPS13B):c.9328G>T (p.Glu3110Ter)
|
|
|
NM_152564.5(VPS13B):c.9331-1G>A
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9331-1G>C
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT
|
|
|
NM_152564.5(VPS13B):c.9331-2A>G
|
rs74485751
|
|
NM_152564.5(VPS13B):c.9333T>G (p.Tyr3111Ter)
|
rs1563497733
|
|
NM_152564.5(VPS13B):c.9416G>A (p.Trp3139Ter)
|
rs1563497844
|
|
NM_152564.5(VPS13B):c.9448del (p.Leu3150fs)
|
|
|
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter)
|
rs753770252
|
|
NM_152564.5(VPS13B):c.9525G>A (p.Trp3175Ter)
|
rs2130858310
|
|
NM_152564.5(VPS13B):c.9537_9540dup (p.Val3181fs)
|
rs2130858335
|
|
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs)
|
rs1554574028
|
|
NM_152564.5(VPS13B):c.9563dup (p.Ser3189fs)
|
rs2130858386
|
|
NM_152564.5(VPS13B):c.9565_9566del (p.Ser3189fs)
|
|
|
NM_152564.5(VPS13B):c.95del (p.Gly32fs)
|
|
|
NM_152564.5(VPS13B):c.9615-1G>A
|
rs2130865334
|
|
NM_152564.5(VPS13B):c.9634C>T (p.Gln3212Ter)
|
rs1563499381
|
|
NM_152564.5(VPS13B):c.9639del (p.Glu3213fs)
|
|
|
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter)
|
rs941969577
|
|
NM_152564.5(VPS13B):c.9697_9700delinsAAG (p.His3233fs)
|
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|
NM_152564.5(VPS13B):c.972T>G (p.Tyr324Ter)
|
|
|
NM_152564.5(VPS13B):c.9745del (p.Ile3249fs)
|
|
|
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs)
|
rs774357106
|
|
NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter)
|
rs1205613982
|
|
NM_152564.5(VPS13B):c.9843_9862del (p.Lys3282fs)
|
rs2130866580
|
|
NM_152564.5(VPS13B):c.9891_9892insCCTCTAGA (p.Val3298fs)
|
rs2130866708
|
|
NM_152564.5(VPS13B):c.9905G>A (p.Trp3302Ter)
|
rs2130866735
|
|
NM_152564.5(VPS13B):c.9938dup (p.Gln3314fs)
|
|
|
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer)
|
rs1301330402
|
|
NM_152564.5(VPS13B):c.9943-1G>A
|
|
|
NM_152564.5(VPS13B):c.9943-2A>G
|
rs1816111137
|
|
NM_152564.5(VPS13B):c.[1044G>A;8916G>A]
|
|
|
NM_153033.5(KCTD7):c.130dup (p.Leu44fs)
|
|
|
NM_153033.5(KCTD7):c.139C>T (p.Gln47Ter)
|
rs2116755694
|
|
NM_153033.5(KCTD7):c.205C>G (p.Leu69Val)
|
rs2116763829
|
|
NM_153033.5(KCTD7):c.295C>T (p.Arg99Ter)
|
rs267607199
|
|
NM_153033.5(KCTD7):c.322C>A (p.Leu108Met)
|
rs387907263
|
|
NM_153033.5(KCTD7):c.331del (p.Leu111fs)
|
rs1786631768
|
|
NM_153033.5(KCTD7):c.335G>A (p.Arg112His)
|
rs774026720
|
|
NM_153033.5(KCTD7):c.339_340del (p.Asp115fs)
|
rs2116773782
|
|
NM_153033.5(KCTD7):c.343G>T (p.Asp115Tyr)
|
rs387907262
|
|
NM_153033.5(KCTD7):c.367C>T (p.Arg123Ter)
|
|
|
NM_153033.5(KCTD7):c.388C>T (p.Gln130Ter)
|
rs1207922864
|
|
NM_153033.5(KCTD7):c.594del (p.Ile199fs)
|
rs727502785
|
|
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter)
|
rs750811871
|
|
NM_153033.5(KCTD7):c.696del (p.Phe232fs)
|
rs2116775509
|
|
NM_153033.5(KCTD7):c.818A>T (p.Asn273Ile)
|
rs387907261
|
|
NM_153682.3(PIGP):c.384del (p.Glu129fs)
|
rs778481061
|
|
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_153747.2(PIGC):c.566T>G (p.Leu189Trp)
|
rs1553259614
|
|
NM_153747.2(PIGC):c.859G>T (p.Glu287Ter)
|
|
|
NM_153816.2(SNX14):c.1108+1181_2108-2342del
|
|
|
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys)
|
rs201128942
|
|
NM_153816.6(SNX14):c.1608+1G>T
|
rs749656742
|
|
NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs)
|
rs1057519561
|
|
NM_153816.6(SNX14):c.1878del (p.Lys626fs)
|
|
|
NM_153816.6(SNX14):c.1894+1G>T
|
rs876657386
|
|
NM_153816.6(SNX14):c.2148+1G>T
|
|
|
NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter)
|
rs876657385
|
|
NM_153816.6(SNX14):c.428T>A (p.Leu143Ter)
|
rs876657387
|
|
NM_153816.6(SNX14):c.645dup (p.Glu216fs)
|
rs869320748
|
|
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)
|
rs60458016
|
|
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.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.148C>T (p.Arg50Cys)
|
rs59931416
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
NM_170707.4(LMNA):c.428C>T (p.Ser143Phe)
|
rs58912633
|
|
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)
|
rs121912496
|
|
NM_170707.4(LMNA):c.810+1G>C
|
rs267607632
|
|
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.961C>T (p.Arg321Ter)
|
rs267607554
|
|
NM_173630.4(RTTN):c.2796A>T (p.Leu932Phe)
|
rs318240757
|
|
NM_173630.4(RTTN):c.5185+1G>A
|
rs1555707336
|
|
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_174916.3(UBR1):c.1440-1G>A
|
rs1596118528
|
|
NM_174916.3(UBR1):c.2254+2T>C
|
rs2141312913
|
|
NM_174916.3(UBR1):c.2379+1G>C
|
|
|
NM_174916.3(UBR1):c.2839+5G>A
|
rs1596106023
|
|
NM_174916.3(UBR1):c.4054-2A>G
|
rs780491123
|
|
NM_174916.3(UBR1):c.407A>G (p.His136Arg)
|
rs119477054
|
|
NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter)
|
rs797045112
|
|
NM_174916.3(UBR1):c.529-13G>A
|
rs1265375100
|
|
NM_177402.5(SYT2):c.1191del (p.Arg397fs)
|
rs2149063864
|
|
NM_177402.5(SYT2):c.465+1G>A
|
rs2149069543
|
|
NM_177402.5(SYT2):c.725dup (p.Val243fs)
|
rs2149068434
|
|
NM_177402.5(SYT2):c.805G>T (p.Glu269Ter)
|
rs2149067131
|
|
NM_178012.5(TUBB2B):c.1138C>T (p.Arg380Cys)
|
rs1757271243
|
|
NM_178012.5(TUBB2B):c.1172G>A (p.Arg391His)
|
rs1581525683
|
|
NM_178012.5(TUBB2B):c.1249G>A (p.Asp417Asn)
|
rs397514567
|
|
NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys)
|
rs398122369
|
|
NM_178012.5(TUBB2B):c.350T>C (p.Leu117Pro)
|
rs397514569
|
|
NM_178012.5(TUBB2B):c.514T>C (p.Ser172Pro)
|
rs137853194
|
|
NM_178012.5(TUBB2B):c.683T>C (p.Leu228Pro)
|
rs137853195
|
|
NM_178012.5(TUBB2B):c.716G>T (p.Cys239Phe)
|
rs878853284
|
|
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser)
|
rs397514568
|
|
NM_178012.5(TUBB2B):c.776C>T (p.Pro259Leu)
|
|
|
NM_178012.5(TUBB2B):c.793T>C (p.Phe265Leu)
|
rs137853196
|
|
NM_178138.6(LHX3):c.133A>T (p.Lys45Ter)
|
rs137854506
|
|
NM_178138.6(LHX3):c.214C>T (p.Arg72Ter)
|
rs774533927
|
|
NM_178138.6(LHX3):c.287_288delinsTCCT (p.Gly96fs)
|
rs137854504
|
|
NM_178138.6(LHX3):c.332A>G (p.Tyr111Cys)
|
rs104894117
|
|
NM_178138.6(LHX3):c.354C>A (p.Cys118Ter)
|
|
|
NM_178138.6(LHX3):c.452_454+20del
|
rs587776711
|
|
NM_178138.6(LHX3):c.629C>T (p.Ala210Val)
|
rs137854503
|
|
NM_178138.6(LHX3):c.672G>A (p.Trp224Ter)
|
rs137854505
|
|
NM_178138.6(LHX3):c.80-2A>G
|
rs2131036410
|
|
NM_178138.6(LHX3):c.80-530_776-454del
|
|
|
NM_178138.6(LHX3):c.96del (p.Gly33fs)
|
rs587776712
|
|
NM_181714.4(LCA5):c.0_-298+211del
|
|
|
NM_181783.4(TMTC3):c.1462del (p.Arg488fs)
|
rs1057517696
|
|
NM_181783.4(TMTC3):c.1959_1960insTT (p.Arg654fs)
|
rs1057519417
|
|
NM_181783.4(TMTC3):c.199C>G (p.His67Asp)
|
rs754200057
|
|
NM_181783.4(TMTC3):c.2617C>T (p.Gln873Ter)
|
rs1057517697
|
|
NM_181783.4(TMTC3):c.3G>A (p.Met1Ile)
|
rs1057517698
|
|
NM_183381.3(RNF13):c.932T>C (p.Leu311Ser)
|
rs1559980771
|
|
NM_183381.3(RNF13):c.935T>C (p.Leu312Pro)
|
rs1559980785
|
|
NM_194277.3(FRMD7):c.1050+5G>A
|
rs1602791884
|
|
NM_194277.3(FRMD7):c.1275_1276del (p.Glu426fs)
|
rs2124209414
|
|
NM_194277.3(FRMD7):c.205+2T>G
|
rs1928435502
|
|
NM_194277.3(FRMD7):c.252G>A (p.Val84=)
|
rs137852209
|
|
NM_194277.3(FRMD7):c.38AGA[1] (p.Lys14del)
|
rs1929191668
|
|
NM_194277.3(FRMD7):c.556A>G (p.Met186Val)
|
rs786205896
|
|
NM_194277.3(FRMD7):c.601C>T (p.Gln201Ter)
|
rs137852207
|
|
NM_194277.3(FRMD7):c.685C>G (p.Arg229Gly)
|
rs137852212
|
|
NM_194277.3(FRMD7):c.70G>A (p.Gly24Arg)
|
rs137852210
|
|
NM_194277.3(FRMD7):c.781C>T (p.Arg261Ter)
|
rs1927850772
|
|
NM_194277.3(FRMD7):c.812G>A (p.Cys271Tyr)
|
rs387906721
|
|
NM_194454.3(KRIT1):c.102+1G>A
|
rs2131773689
|
|
NM_194454.3(KRIT1):c.1027A>T (p.Lys343Ter)
|
rs2131527403
|
|
NM_194454.3(KRIT1):c.1084del (p.Ala362fs)
|
rs1554518541
|
|
NM_194454.3(KRIT1):c.1088del (p.Ala363fs)
|
|
|
NM_194454.3(KRIT1):c.1096_1102del (p.Gly366fs)
|
|
|
NM_194454.3(KRIT1):c.1097del (p.Gly366fs)
|
rs2131526402
|
|
NM_194454.3(KRIT1):c.1099dup (p.His367fs)
|
rs2131526298
|
|
NM_194454.3(KRIT1):c.1107_1109delinsCA (p.Glu369fs)
|
rs1796247872
|
|
NM_194454.3(KRIT1):c.1114C>T (p.Gln372Ter)
|
rs780114710
|
|
NM_194454.3(KRIT1):c.1140_1143del (p.Arg382fs)
|
rs2131525596
|
|
NM_194454.3(KRIT1):c.1144dup (p.Arg382fs)
|
rs1554518386
|
|
NM_194454.3(KRIT1):c.1145del (p.Arg382fs)
|
|
|
NM_194454.3(KRIT1):c.1146+1G>A
|
rs886039401
|
|
NM_194454.3(KRIT1):c.1146+1G>T
|
rs886039401
|
|
NM_194454.3(KRIT1):c.1147-13C>G
|
rs779465895
|
|
NM_194454.3(KRIT1):c.1150del (p.His383_Ile384insTer)
|
|
|
NM_194454.3(KRIT1):c.1159C>T (p.Gln387Ter)
|
rs2131511667
|
|
NM_194454.3(KRIT1):c.1162C>T (p.Gln388Ter)
|
rs1796087833
|
|
NM_194454.3(KRIT1):c.1175dup (p.Leu393fs)
|
rs2131511337
|
|
NM_194454.3(KRIT1):c.1201C>T (p.Gln401Ter)
|
rs1331502949
|
|
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)
|
rs1057517753
|
|
NM_194454.3(KRIT1):c.1204_1208del (p.Asn402fs)
|
rs1563275562
|
|
NM_194454.3(KRIT1):c.120del (p.Ile42fs)
|
|
|
NM_194454.3(KRIT1):c.1211G>A (p.Trp404Ter)
|
rs2131510675
|
|
NM_194454.3(KRIT1):c.1212G>A (p.Trp404Ter)
|
rs2131510638
|
|
NM_194454.3(KRIT1):c.1214_1215dup (p.Glu406fs)
|
|
|
NM_194454.3(KRIT1):c.1249A>T (p.Lys417Ter)
|
|
|
NM_194454.3(KRIT1):c.1254del (p.Tyr419fs)
|
|
|
NM_194454.3(KRIT1):c.1255-1G>A
|
rs1563267100
|
|
NM_194454.3(KRIT1):c.1255-1_1256del
|
rs1554514380
|
|
NM_194454.3(KRIT1):c.1255-2A>G
|
rs1795437460
|
|
NM_194454.3(KRIT1):c.1255_1270del16 (p.Glu420fs)
|
rs2131455281
|
|
NM_194454.3(KRIT1):c.1261A>T (p.Lys421Ter)
|
|
|
NM_194454.3(KRIT1):c.1263del (p.Val422fs)
|
rs1795435288
|
|
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)
|
rs886039402
|
|
NM_194454.3(KRIT1):c.1281_1282dup (p.Asp428fs)
|
rs1795430058
|
|
NM_194454.3(KRIT1):c.1287dup (p.Ser430fs)
|
rs2131454847
|
|
NM_194454.3(KRIT1):c.1297del (p.Ser433fs)
|
rs2131454682
|
|
NM_194454.3(KRIT1):c.1306_1310del (p.Leu436fs)
|
rs1563266658
|
|
NM_194454.3(KRIT1):c.1333C>T (p.Gln445Ter)
|
rs2131454006
|
|
NM_194454.3(KRIT1):c.1336C>T (p.Gln446Ter)
|
rs2131453888
|
|
NM_194454.3(KRIT1):c.1342del (p.Met448fs)
|
rs1584881309
|
|
NM_194454.3(KRIT1):c.1362_1363del (p.Gln455fs)
|
rs1180476377
|
|
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)
|
rs267607203
|
|
NM_194454.3(KRIT1):c.1371_1372del (p.Gln458fs)
|
rs1795413179
|
|
NM_194454.3(KRIT1):c.1372C>T (p.Gln458Ter)
|
rs1563266163
|
|
NM_194454.3(KRIT1):c.1373del (p.Gln458fs)
|
rs1563266147
|
|
NM_194454.3(KRIT1):c.1389_1390del (p.Ile463fs)
|
rs2131452462
|
|
NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter)
|
rs1563265959
|
|
NM_194454.3(KRIT1):c.1392G>A (p.Trp464Ter)
|
rs997111087
|
|
NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter)
|
rs1554513911
|
|
NM_194454.3(KRIT1):c.1400C>G (p.Ser467Ter)
|
rs1554513911
|
|
NM_194454.3(KRIT1):c.1412-1G>T
|
rs1554513070
|
|
NM_194454.3(KRIT1):c.1412-2A>C
|
rs1563264113
|
|
NM_194454.3(KRIT1):c.1417C>T (p.Gln473Ter)
|
rs1554513061
|
|
NM_194454.3(KRIT1):c.1423A>T (p.Lys475Ter)
|
|
|
NM_194454.3(KRIT1):c.1437_1438del (p.Lys479fs)
|
rs1563263905
|
|
NM_194454.3(KRIT1):c.143del (p.Lys48fs)
|
rs776245507
|
|
NM_194454.3(KRIT1):c.143dup (p.Arg49fs)
|
rs776245507
|
|
NM_194454.3(KRIT1):c.1444C>T (p.Gln482Ter)
|
rs747380313
|
|
NM_194454.3(KRIT1):c.1446dup (p.His483fs)
|
rs2131437372
|
|
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs)
|
rs1057518665
|
|
NM_194454.3(KRIT1):c.1498C>T (p.Gln500Ter)
|
|
|
NM_194454.3(KRIT1):c.150_151del (p.Lys51fs)
|
|
|
NM_194454.3(KRIT1):c.1513C>T (p.Gln505Ter)
|
rs1563263366
|
|
NM_194454.3(KRIT1):c.151_154del (p.Lys51fs)
|
rs886041209
|
|
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs)
|
rs1057517754
|
|
NM_194454.3(KRIT1):c.152_155del (p.Lys51fs)
|
rs886039400
|
|
NM_194454.3(KRIT1):c.1545del (p.Leu516fs)
|
rs1554512658
|
|
NM_194454.3(KRIT1):c.1549G>T (p.Glu517Ter)
|
|
|
NM_194454.3(KRIT1):c.1558A>T (p.Lys520Ter)
|
rs1584873058
|
|
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter)
|
rs2131435199
|
|
NM_194454.3(KRIT1):c.1563+1G>A
|
rs549591728
|
|
NM_194454.3(KRIT1):c.1564-1G>A
|
|
|
NM_194454.3(KRIT1):c.1596_1606del (p.Phe532fs)
|
|
|
NM_194454.3(KRIT1):c.1616T>G (p.Leu539Ter)
|
rs1563245596
|
|
NM_194454.3(KRIT1):c.1664C>T (p.Ala555Val)
|
rs2131326892
|
|
NM_194454.3(KRIT1):c.1683_1695del (p.Val562fs)
|
rs1554504519
|
|
NM_194454.3(KRIT1):c.1702_1703del (p.Glu567_Ser568insTer)
|
rs1554504484
|
|
NM_194454.3(KRIT1):c.1705A>T (p.Lys569Ter)
|
rs2131326255
|
|
NM_194454.3(KRIT1):c.1710del (p.Lys570fs)
|
rs1563244807
|
|
NM_194454.3(KRIT1):c.1713_1714del (p.His571fs)
|
rs2131326123
|
|
NM_194454.3(KRIT1):c.1717_1720del (p.Gln573fs)
|
|
|
NM_194454.3(KRIT1):c.1730+1G>A
|
rs2131325903
|
|
NM_194454.3(KRIT1):c.1730+4_1730+7del
|
rs1563244596
|
|
NM_194454.3(KRIT1):c.1730+5G>A
|
rs1563244618
|
|
NM_194454.3(KRIT1):c.1731-2A>G
|
rs886039571
|
|
NM_194454.3(KRIT1):c.1732G>T (p.Glu578Ter)
|
|
|
NM_194454.3(KRIT1):c.1739dup (p.Asn580fs)
|
rs1563243016
|
|
NM_194454.3(KRIT1):c.1742_1748dup (p.Ile584fs)
|
rs1584800138
|
|
NM_194454.3(KRIT1):c.1742dup (p.Ser583fs)
|
|
|
NM_194454.3(KRIT1):c.1747_1756del (p.Ser583fs)
|
|
|
NM_194454.3(KRIT1):c.1765A>T (p.Lys589Ter)
|
rs1554503702
|
|
NM_194454.3(KRIT1):c.1790G>A (p.Trp597Ter)
|
|
|
NM_194454.3(KRIT1):c.1791G>A (p.Trp597Ter)
|
rs2131316175
|
|
NM_194454.3(KRIT1):c.1793dup (p.Asn599fs)
|
|
|
NM_194454.3(KRIT1):c.1807del (p.His603fs)
|
rs886039572
|
|
NM_194454.3(KRIT1):c.1817_1818insTT (p.Lys606fs)
|
|
|
NM_194454.3(KRIT1):c.1819-1G>A
|
rs1793304372
|
|
NM_194454.3(KRIT1):c.1854dup (p.His619fs)
|
rs1793298143
|
|
NM_194454.3(KRIT1):c.1859del (p.His620fs)
|
rs2131309299
|
|
NM_194454.3(KRIT1):c.1867dup (p.Arg623fs)
|
rs2131309179
|
|
NM_194454.3(KRIT1):c.186del (p.Ser62fs)
|
|
|
NM_194454.3(KRIT1):c.1877T>A (p.Leu626Ter)
|
|
|
NM_194454.3(KRIT1):c.1879C>T (p.Gln627Ter)
|
rs2131309013
|
|
NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter)
|
rs1554503009
|
|
NM_194454.3(KRIT1):c.1905T>G (p.Tyr635Ter)
|
|
|
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter)
|
rs1563240592
|
|
NM_194454.3(KRIT1):c.1927_1928del (p.Gln643fs)
|
rs2131308345
|
|
NM_194454.3(KRIT1):c.1932_1933del (p.Phe645fs)
|
|
|
NM_194454.3(KRIT1):c.1932dup (p.Phe645fs)
|
rs1554502927
|
|
NM_194454.3(KRIT1):c.1933_1936dup (p.Thr646fs)
|
|
|
NM_194454.3(KRIT1):c.1935del (p.Phe645fs)
|
|
|
NM_194454.3(KRIT1):c.1940del (p.Lys647fs)
|
rs2131308132
|
|
NM_194454.3(KRIT1):c.1959_1960del (p.His653fs)
|
rs1064793348
|
|
NM_194454.3(KRIT1):c.196C>T (p.Gln66Ter)
|
rs771656368
|
|
NM_194454.3(KRIT1):c.1980_1981delinsGT (p.Gly661Ter)
|
rs2131307481
|
|
NM_194454.3(KRIT1):c.2024del (p.Lys675fs)
|
rs1793254982
|
|
NM_194454.3(KRIT1):c.2025+1G>A
|
|
|
NM_194454.3(KRIT1):c.2025+1G>T
|
|
|
NM_194454.3(KRIT1):c.2030T>A (p.Leu677Ter)
|
|
|
NM_194454.3(KRIT1):c.2030dup (p.Leu677fs)
|
|
|
NM_194454.3(KRIT1):c.2038dup (p.Ser680fs)
|
|
|
NM_194454.3(KRIT1):c.2043del (p.Lys682fs)
|
rs1563212150
|
|
NM_194454.3(KRIT1):c.2049T>G (p.Tyr683Ter)
|
rs2131089190
|
|
NM_194454.3(KRIT1):c.2058del (p.Phe686fs)
|
|
|
NM_194454.3(KRIT1):c.2064G>A (p.Trp688Ter)
|
rs2131088953
|
|
NM_194454.3(KRIT1):c.2065C>T (p.Gln689Ter)
|
rs1790098079
|
|
NM_194454.3(KRIT1):c.206T>A (p.Leu69Ter)
|
rs1799516672
|
|
NM_194454.3(KRIT1):c.2081del (p.Asp694fs)
|
rs1790094262
|
|
NM_194454.3(KRIT1):c.2084_2142+81del
|
|
|
NM_194454.3(KRIT1):c.208dup (p.Asp70fs)
|
rs1799515896
|
|
NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)
|
rs1563211627
|
|
NM_194454.3(KRIT1):c.2100_2101dup (p.Ser701fs)
|
rs2131088062
|
|
NM_194454.3(KRIT1):c.2113A>T (p.Lys705Ter)
|
rs2131087886
|
|
NM_194454.3(KRIT1):c.2119_2120del (p.Ser707fs)
|
rs1554490317
|
|
NM_194454.3(KRIT1):c.2122_2123insAAAT (p.Phe708Ter)
|
rs1790085048
|
|
NM_194454.3(KRIT1):c.2143-1G>A
|
rs1554489785
|
|
NM_194454.3(KRIT1):c.2143-2A>T
|
|
|
NM_194454.3(KRIT1):c.250C>T (p.Gln84Ter)
|
rs751651833
|
|
NM_194454.3(KRIT1):c.254del (p.Gly85fs)
|
|
|
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter)
|
rs1563313372
|
|
NM_194454.3(KRIT1):c.382G>T (p.Gly128Ter)
|
rs2131676374
|
|
NM_194454.3(KRIT1):c.397dup (p.Tyr133fs)
|
rs757560062
|
|
NM_194454.3(KRIT1):c.404T>A (p.Leu135Ter)
|
|
|
NM_194454.3(KRIT1):c.406C>T (p.Gln136Ter)
|
|
|
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)
|
rs137853139
|
|
NM_194454.3(KRIT1):c.486-2A>G
|
rs965713946
|
|
NM_194454.3(KRIT1):c.508C>T (p.Gln170Ter)
|
|
|
NM_194454.3(KRIT1):c.570_583del (p.Ile191fs)
|
rs1798258547
|
|
NM_194454.3(KRIT1):c.596C>G (p.Ser199Ter)
|
rs2131662647
|
|
NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu)
|
rs137853140
|
|
NM_194454.3(KRIT1):c.601C>T (p.Gln201Ter)
|
|
|
NM_194454.3(KRIT1):c.629dup (p.Tyr210Ter)
|
rs2131662142
|
|
NM_194454.3(KRIT1):c.646A>T (p.Lys216Ter)
|
|
|
NM_194454.3(KRIT1):c.646_647del (p.Lys216fs)
|
rs1798246011
|
|
NM_194454.3(KRIT1):c.649_661del (p.Ser217fs)
|
rs1798241938
|
|
NM_194454.3(KRIT1):c.652_653insGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGTA (p.Lys218delinsSerSerArgLeuTer)
|
|
|
NM_194454.3(KRIT1):c.659dup (p.Leu220fs)
|
rs1584981589
|
|
NM_194454.3(KRIT1):c.674del (p.Ala225fs)
|
rs1563305648
|
|
NM_194454.3(KRIT1):c.695del (p.Pro232fs)
|
rs1798228728
|
|
NM_194454.3(KRIT1):c.707C>A (p.Ser236Ter)
|
rs1563305269
|
|
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)
|
rs886043300
|
|
NM_194454.3(KRIT1):c.729+1G>A
|
rs1563305064
|
|
NM_194454.3(KRIT1):c.729+1G>T
|
rs1563305064
|
|
NM_194454.3(KRIT1):c.729+2T>C
|
rs1554528541
|
|
NM_194454.3(KRIT1):c.729+2T>G
|
|
|
NM_194454.3(KRIT1):c.730-1G>A
|
rs1554527922
|
|
NM_194454.3(KRIT1):c.730-1G>C
|
rs1554527922
|
|
NM_194454.3(KRIT1):c.730-2A>G
|
rs1554527925
|
|
NM_194454.3(KRIT1):c.733_736del (p.Asp245fs)
|
rs2131647862
|
|
NM_194454.3(KRIT1):c.747_750del (p.Asn250fs)
|
rs1584976350
|
|
NM_194454.3(KRIT1):c.780C>G (p.Tyr260Ter)
|
|
|
NM_194454.3(KRIT1):c.782C>G (p.Ser261Ter)
|
rs1554527817
|
|
NM_194454.3(KRIT1):c.787dup (p.Ile263fs)
|
rs1798067945
|
|
NM_194454.3(KRIT1):c.790_818del (p.Gln264fs)
|
|
|
NM_194454.3(KRIT1):c.810dup (p.Trp271fs)
|
rs1584975743
|
|
NM_194454.3(KRIT1):c.812G>A (p.Trp271Ter)
|
rs1554527779
|
|
NM_194454.3(KRIT1):c.815_816insTA (p.Gln272fs)
|
|
|
NM_194454.3(KRIT1):c.842del (p.Asp281fs)
|
rs1563302951
|
|
NM_194454.3(KRIT1):c.845+1G>A
|
rs1563302941
|
|
NM_194454.3(KRIT1):c.845+2T>A
|
rs1563302930
|
|
NM_194454.3(KRIT1):c.845+2T>C
|
rs1563302930
|
|
NM_194454.3(KRIT1):c.847G>T (p.Glu283Ter)
|
|
|
NM_194454.3(KRIT1):c.857G>A (p.Trp286Ter)
|
|
|
NM_194454.3(KRIT1):c.859del (p.Trp286_Val287insTer)
|
rs1797999551
|
|
NM_194454.3(KRIT1):c.875_876del (p.Leu292fs)
|
rs2131643055
|
|
NM_194454.3(KRIT1):c.877del (p.His293fs)
|
|
|
NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter)
|
rs764960797
|
|
NM_194454.3(KRIT1):c.891T>A (p.Cys297Ter)
|
|
|
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)
|
rs1554527169
|
|
NM_194454.3(KRIT1):c.935_954del (p.Arg311_Phe312insTer)
|
|
|
NM_194454.3(KRIT1):c.937dup (p.Ser313fs)
|
rs1554527032
|
|
NM_194454.3(KRIT1):c.953_956del (p.Asp318fs)
|
|
|
NM_194454.3(KRIT1):c.972dup (p.Ile325fs)
|
|
|
NM_194454.3(KRIT1):c.976_979dup (p.Tyr327fs)
|
rs1326827713
|
|
NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter)
|
rs267607204
|
|
NM_194454.3(KRIT1):c.990G>A (p.Trp330Ter)
|
rs1554518783
|
|
NM_194454.3(KRIT1):c.992A>G (p.Tyr331Cys)
|
rs1350475816
|
|
NM_194454.3(KRIT1):c.999del (p.Val334fs)
|
rs1554518750
|
|
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
|
|
NM_198271.5(LMOD3):c.780del (p.Asn261fs)
|
|
|
NM_198271.5(LMOD3):c.80_95del (p.Asn26_Leu27insTer)
|
rs1212229943
|
|
NM_198271.5(LMOD3):c.882dup (p.Asp295fs)
|
|
|
NM_198271.5(LMOD3):c.944_945del (p.Leu315fs)
|
|
|
NM_198271.5(LMOD3):c.971del (p.Gly324fs)
|
rs2107526351
|
|
NM_198506.5(LRIT3):c.1538_1539del (p.Ser513fs)
|
rs397509380
|
|
NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter)
|
rs2125900955
|
|
NM_198576.4(AGRN):c.1036_1039dup (p.Glu347fs)
|
rs1570195582
|
|
NM_198576.4(AGRN):c.1057C>T (p.Gln353Ter)
|
rs587777299
|
|
NM_198576.4(AGRN):c.1077_1083del (p.Asp359fs)
|
rs2100635216
|
|
NM_198576.4(AGRN):c.1105_1106del (p.Val369fs)
|
rs2100635414
|
|
NM_198576.4(AGRN):c.1197C>A (p.Cys399Ter)
|
|
|
NM_198576.4(AGRN):c.1275C>G (p.Tyr425Ter)
|
rs1239736447
|
|
NM_198576.4(AGRN):c.1668del (p.Ser557fs)
|
|
|
NM_198576.4(AGRN):c.1734C>A (p.Cys578Ter)
|
|
|
NM_198576.4(AGRN):c.2002G>T (p.Glu668Ter)
|
rs199801106
|
|
NM_198576.4(AGRN):c.2500C>T (p.Arg834Ter)
|
rs1645065317
|
|
NM_198576.4(AGRN):c.2645_2654del (p.Asp882fs)
|
|
|
NM_198576.4(AGRN):c.3003dup (p.Gly1002fs)
|
rs763573703
|
|
NM_198576.4(AGRN):c.3229del (p.Ala1077fs)
|
|
|
NM_198576.4(AGRN):c.3497_3500del (p.Ala1166fs)
|
|
|
NM_198576.4(AGRN):c.3724C>T (p.Gln1242Ter)
|
rs2100666336
|
|
NM_198576.4(AGRN):c.4389G>A (p.Trp1463Ter)
|
|
|
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)
|
|
|
NM_198576.4(AGRN):c.5125G>C (p.Gly1709Arg)
|
rs199476396
|
|
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe)
|
rs587777298
|
|
NM_198576.4(AGRN):c.543dup (p.Val182fs)
|
rs1425913203
|
|
NM_198576.4(AGRN):c.5554_5555dup (p.Glu1853fs)
|
rs2100689699
|
|
NM_198576.4(AGRN):c.5703del (p.Thr1902fs)
|
rs2100699601
|
|
NM_198576.4(AGRN):c.574_578dup (p.Ser194fs)
|
rs1570190059
|
|
NM_198576.4(AGRN):c.5753_5754del (p.Tyr1918fs)
|
rs753401796
|
|
NM_198576.4(AGRN):c.667dup (p.Leu223fs)
|
rs1644909838
|
|
NM_198576.4(AGRN):c.893_903del (p.Leu298fs)
|
|
|
NM_198576.4(AGRN):c.902_912del (p.Arg301fs)
|
rs1570193864
|
|
NM_198576.4(AGRN):c.914_947del (p.Arg305fs)
|
rs1557700705
|
|
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_201253.3(CRB1):c.1032_1033dup (p.Ser345fs)
|
|
|
NM_201253.3(CRB1):c.1041del (p.Cys348fs)
|
rs1660507732
|
|
NM_201253.3(CRB1):c.1057G>T (p.Glu353Ter)
|
rs2125354456
|
|
NM_201253.3(CRB1):c.1078_1081del (p.Glu360fs)
|
rs2125354507
|
|
NM_201253.3(CRB1):c.107C>A (p.Ser36Ter)
|
rs2125303600
|
|
NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter)
|
rs1660515780
|
|
NM_201253.3(CRB1):c.112del (p.Ser38fs)
|
rs62645750
|
|
NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter)
|
rs1660516364
|
|
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)
|
rs62645754
|
|
NM_201253.3(CRB1):c.1148_1149dup (p.Ile384fs)
|
rs1660517312
|
|
NM_201253.3(CRB1):c.117C>A (p.Cys39Ter)
|
|
|
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)
|
rs786205450
|
|
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)
|
rs115352681
|
|
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)
|
rs369775002
|
|
NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter)
|
rs62645746
|
|
NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter)
|
|
|
NM_201253.3(CRB1):c.1275del (p.Phe425fs)
|
|
|
NM_201253.3(CRB1):c.1334_1740del (p.Cys445fs)
|
rs1664289410
|
|
NM_201253.3(CRB1):c.1339dup (p.His447fs)
|
rs2125469313
|
|
NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer)
|
rs2125303672
|
|
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)
|
rs1664292210
|
|
NM_201253.3(CRB1):c.138del (p.Asp47fs)
|
|
|
NM_201253.3(CRB1):c.139del (p.Asp47fs)
|
|
|
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)
|
|
|
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)
|
rs866822473
|
|
NM_201253.3(CRB1):c.1431del (p.Ser478fs)
|
rs1553260321
|
|
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro)
|
rs963201816
|
|
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)
|
rs1571523319
|
|
NM_201253.3(CRB1):c.1465G>T (p.Glu489Ter)
|
|
|
NM_201253.3(CRB1):c.1522T>C (p.Cys508Arg)
|
rs1664303657
|
|
NM_201253.3(CRB1):c.1571T>C (p.Leu524Pro)
|
|
|
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs)
|
rs878853364
|
|
NM_201253.3(CRB1):c.1623C>A (p.Tyr541Ter)
|
|
|
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter)
|
rs768107603
|
|
NM_201253.3(CRB1):c.1655del (p.Gln551_Ser552insTer)
|
|
|
NM_201253.3(CRB1):c.1660del (p.Val554fs)
|
rs1664313783
|
|
NM_201253.3(CRB1):c.1697del (p.Glu566fs)
|
rs1664317534
|
|
NM_201253.3(CRB1):c.1700G>A (p.Trp567Ter)
|
rs2125470583
|
|
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)
|
rs1266363944
|
|
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs)
|
rs751935649
|
|
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs)
|
rs1664325377
|
|
NM_201253.3(CRB1):c.1782del (p.Ala595fs)
|
|
|
NM_201253.3(CRB1):c.1813del (p.Ile605fs)
|
|
|
NM_201253.3(CRB1):c.1818T>A (p.Cys606Ter)
|
rs371114178
|
|
NM_201253.3(CRB1):c.1831del (p.Ser611fs)
|
rs2125471098
|
|
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)
|
rs768905244
|
|
NM_201253.3(CRB1):c.1856del (p.Gly619fs)
|
rs2125471177
|
|
NM_201253.3(CRB1):c.1896_1908del (p.Met633fs)
|
rs2125471347
|
|
NM_201253.3(CRB1):c.18del (p.Asn7fs)
|
rs2125193922
|
|
NM_201253.3(CRB1):c.1949G>A (p.Trp650Ter)
|
rs1664341626
|
|
NM_201253.3(CRB1):c.194_195del (p.Lys65fs)
|
|
|
NM_201253.3(CRB1):c.1971del (p.Asn657fs)
|
rs1664343244
|
|
NM_201253.3(CRB1):c.1974_1990del (p.Ser659fs)
|
rs2125471663
|
|
NM_201253.3(CRB1):c.1997T>A (p.Val666Asp)
|
rs189395222
|
|
NM_201253.3(CRB1):c.2024G>A (p.Trp675Ter)
|
rs1664348016
|
|
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)
|
rs62636266
|
|
NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter)
|
rs1558127317
|
|
NM_201253.3(CRB1):c.2082C>A (p.Tyr694Ter)
|
rs2125472041
|
|
NM_201253.3(CRB1):c.2086T>C (p.Cys696Arg)
|
|
|
NM_201253.3(CRB1):c.20_23del (p.Asn7fs)
|
rs2125193925
|
|
NM_201253.3(CRB1):c.2128+1G>C
|
rs2125472205
|
|
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln)
|
rs62645755
|
|
NM_201253.3(CRB1):c.2129-1G>A
|
|
|
NM_201253.3(CRB1):c.2129-1G>C
|
rs1664642051
|
|
NM_201253.3(CRB1):c.2129-1G>T
|
|
|
NM_201253.3(CRB1):c.2129-2A>C
|
|
|
NM_201253.3(CRB1):c.2129-2A>G
|
|
|
NM_201253.3(CRB1):c.2132_2133del (p.Tyr711fs)
|
|
|
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter)
|
rs772794324
|
|
NM_201253.3(CRB1):c.2150del (p.Gly717fs)
|
rs2125483574
|
|
NM_201253.3(CRB1):c.2171_2172del (p.Tyr724fs)
|
|
|
NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter)
|
|
|
NM_201253.3(CRB1):c.2195_2204del (p.Ser732fs)
|
|
|
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)
|
rs62636267
|
|
NM_201253.3(CRB1):c.2229_2230insTCCATGTTGAAGC (p.Arg744fs)
|
rs1664650245
|
|
NM_201253.3(CRB1):c.222C>A (p.Cys74Ter)
|
|
|
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)
|
rs150412614
|
|
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys)
|
rs28939720
|
|
NM_201253.3(CRB1):c.2243del (p.Pro748fs)
|
rs1664651786
|
|
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val)
|
rs2125483925
|
|
NM_201253.3(CRB1):c.2257_2264dup (p.Leu755delinsPheTer)
|
|
|
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro)
|
rs896160584
|
|
NM_201253.3(CRB1):c.2263_2272del (p.Leu755fs)
|
|
|
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys)
|
rs201700675
|
|
NM_201253.3(CRB1):c.2293_2294del (p.Val765fs)
|
|
|
NM_201253.3(CRB1):c.2297G>A (p.Trp766Ter)
|
|
|
NM_201253.3(CRB1):c.2355del (p.Lys785fs)
|
|
|
NM_201253.3(CRB1):c.2371G>C (p.Gly791Arg)
|
|
|
NM_201253.3(CRB1):c.2393T>A (p.Leu798Ter)
|
rs2125484499
|
|
NM_201253.3(CRB1):c.2416G>T (p.Glu806Ter)
|
rs766411096
|
|
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter)
|
rs1571540037
|
|
NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter)
|
rs1664669402
|
|
NM_201253.3(CRB1):c.2479G>T (p.Gly827Ter)
|
rs62636269
|
|
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)
|
rs1664671663
|
|
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp)
|
rs1571540258
|
|
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)
|
rs1085307972
|
|
NM_201253.3(CRB1):c.2505_2508del (p.Pro836fs)
|
rs778419716
|
|
NM_201253.3(CRB1):c.2527_2598del (p.Leu843_Pro866del)
|
|
|
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
|
rs745348555
|
|
NM_201253.3(CRB1):c.2536G>T (p.Gly846Ter)
|
|
|
NM_201253.3(CRB1):c.2541_2542del (p.Phe848fs)
|
rs2125485040
|
|
NM_201253.3(CRB1):c.2543del (p.Phe848fs)
|
|
|
NM_201253.3(CRB1):c.2570dup (p.Asn858fs)
|
rs2125485135
|
|
NM_201253.3(CRB1):c.2578del (p.Gln860fs)
|
rs1558132353
|
|
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter)
|
rs62636260
|
|
NM_201253.3(CRB1):c.2582del (p.Asn861fs)
|
|
|
NM_201253.3(CRB1):c.2587G>T (p.Glu863Ter)
|
|
|
NM_201253.3(CRB1):c.2630_2631dup (p.Leu878fs)
|
rs2125485368
|
|
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)
|
rs910489135
|
|
NM_201253.3(CRB1):c.2647del (p.Gln883fs)
|
rs2125485467
|
|
NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs)
|
rs1571544281
|
|
NM_201253.3(CRB1):c.2696G>C (p.Gly899Ala)
|
|
|
NM_201253.3(CRB1):c.2718G>A (p.Trp906Ter)
|
rs2125488868
|
|
NM_201253.3(CRB1):c.2767G>T (p.Glu923Ter)
|
rs2125489019
|
|
NM_201253.3(CRB1):c.276_294delinsTGAACACTGTAC (p.Arg92fs)
|
|
|
NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter)
|
|
|
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro)
|
rs114630940
|
|
NM_201253.3(CRB1):c.2818C>T (p.Gln940Ter)
|
rs2125489182
|
|
NM_201253.3(CRB1):c.281_282del (p.Phe94fs)
|
rs1571848166
|
|
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)
|
rs62645747
|
|
NM_201253.3(CRB1):c.2853dup (p.Ala952fs)
|
rs281865173
|
|
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter)
|
rs878853371
|
|
NM_201253.3(CRB1):c.2881del (p.Ile961fs)
|
|
|
NM_201253.3(CRB1):c.2885T>A (p.Leu962Ter)
|
|
|
NM_201253.3(CRB1):c.2904dup (p.Ile969fs)
|
|
|
NM_201253.3(CRB1):c.2942_2943del (p.Arg981fs)
|
rs1290879180
|
|
NM_201253.3(CRB1):c.2955_2956insGA (p.Asn986fs)
|
|
|
NM_201253.3(CRB1):c.2966T>C (p.Ile989Thr)
|
|
|
NM_201253.3(CRB1):c.2969del (p.Leu990fs)
|
|
|
NM_201253.3(CRB1):c.2981_2982del (p.Lys994fs)
|
|
|
NM_201253.3(CRB1):c.2982_3064dup (p.Ser1022delinsLysSerLeuAsnPheLeuIleLeuAlaPheLysIleProAspTyrSerPheAsnCysLysValAlaThrAlaPheIleCysTer)
|
|
|
NM_201253.3(CRB1):c.3012_3014delinsTTT (p.Gln1004_Asp1005delinsHisPhe)
|
|
|
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)
|
rs369184026
|
|
NM_201253.3(CRB1):c.3017C>A (p.Ser1006Tyr)
|
|
|
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)
|
rs143511261
|
|
NM_201253.3(CRB1):c.3055_3059dup (p.Met1020fs)
|
|
|
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu)
|
rs1064797128
|
|
NM_201253.3(CRB1):c.3091G>A (p.Asp1031Asn)
|
rs2125499421
|
|
NM_201253.3(CRB1):c.3102G>A (p.Trp1034Ter)
|
rs2125499463
|
|
NM_201253.3(CRB1):c.3110_3143dup (p.Ser1049fs)
|
rs1665063400
|
|
NM_201253.3(CRB1):c.3112_3113dup (p.Leu1039fs)
|
|
|
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val)
|
rs781705903
|
|
NM_201253.3(CRB1):c.3134del (p.Leu1045fs)
|
rs2125499552
|
|
NM_201253.3(CRB1):c.3142_3149del (p.Thr1048fs)
|
|
|
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs)
|
rs1665066272
|
|
NM_201253.3(CRB1):c.3152G>A (p.Trp1051Ter)
|
|
|
NM_201253.3(CRB1):c.3153G>A (p.Trp1051Ter)
|
rs1249210332
|
|
NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr)
|
rs727503889
|
|
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)
|
rs564754426
|
|
NM_201253.3(CRB1):c.3288T>A (p.Cys1096Ter)
|
|
|
NM_201253.3(CRB1):c.3292del (p.Ser1098fs)
|
|
|
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg)
|
rs62636276
|
|
NM_201253.3(CRB1):c.3325_3326del (p.Tyr1109fs)
|
rs2125500141
|
|
NM_201253.3(CRB1):c.3325dup (p.Tyr1109fs)
|
rs2125500127
|
|
NM_201253.3(CRB1):c.3329T>G (p.Phe1110Cys)
|
rs1665086143
|
|
NM_201253.3(CRB1):c.3331G>T (p.Glu1111Ter)
|
rs62636277
|
|
NM_201253.3(CRB1):c.3343_3352del (p.Gly1115fs)
|
|
|
NM_201253.3(CRB1):c.3347del (p.Phe1116fs)
|
rs62636278
|
|
NM_201253.3(CRB1):c.3361C>T (p.Gln1121Ter)
|
rs2125500230
|
|
NM_201253.3(CRB1):c.3395_3879-490del
|
|
|
NM_201253.3(CRB1):c.3408del (p.Cys1137fs)
|
rs1665093194
|
|
NM_201253.3(CRB1):c.3427del (p.Cys1143fs)
|
rs2125500431
|
|
NM_201253.3(CRB1):c.3441_3442del (p.Cys1148fs)
|
|
|
NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg)
|
rs2125500491
|
|
NM_201253.3(CRB1):c.344_356dup (p.Cys119fs)
|
|
|
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)
|
rs1558138741
|
|
NM_201253.3(CRB1):c.3460T>A (p.Cys1154Ser)
|
|
|
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)
|
rs1571557864
|
|
NM_201253.3(CRB1):c.3495T>A (p.Cys1165Ter)
|
|
|
NM_201253.3(CRB1):c.3507G>A (p.Trp1169Ter)
|
rs1665100553
|
|
NM_201253.3(CRB1):c.3507_3508del (p.Trp1169fs)
|
|
|
NM_201253.3(CRB1):c.3538G>T (p.Glu1180Ter)
|
|
|
NM_201253.3(CRB1):c.3540_3541dup (p.Cys1181fs)
|
rs2125500799
|
|
NM_201253.3(CRB1):c.3542dup (p.Cys1181fs)
|
rs1553263218
|
|
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter)
|
rs1658671768
|
|
NM_201253.3(CRB1):c.3626_3627del (p.Val1209fs)
|
|
|
NM_201253.3(CRB1):c.3630del (p.Cys1211fs)
|
|
|
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3667dup (p.Cys1223fs)
|
|
|
NM_201253.3(CRB1):c.3668_3669delinsA (p.Gln1222_Cys1223insTer)
|
rs1665112963
|
|
NM_201253.3(CRB1):c.3687C>A (p.Cys1229Ter)
|
|
|
NM_201253.3(CRB1):c.3708_3709dup (p.Ser1237fs)
|
|
|
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs)
|
rs1366609497
|
|
NM_201253.3(CRB1):c.3762del (p.Leu1254fs)
|
|
|
NM_201253.3(CRB1):c.3787A>T (p.Lys1263Ter)
|
rs2125506218
|
|
NM_201253.3(CRB1):c.379C>T (p.Gln127Ter)
|
rs1658673791
|
|
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs)
|
|
|
NM_201253.3(CRB1):c.3837_3838del (p.Glu1280fs)
|
|
|
NM_201253.3(CRB1):c.3860del (p.Pro1287fs)
|
rs2125506442
|
|
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)
|
rs2125506459
|
|
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter)
|
rs1665282478
|
|
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter)
|
rs281865174
|
|
NM_201253.3(CRB1):c.3887del (p.Lys1296fs)
|
rs765536137
|
|
NM_201253.3(CRB1):c.3896del (p.Asp1299fs)
|
rs2125513602
|
|
NM_201253.3(CRB1):c.3898G>T (p.Glu1300Ter)
|
|
|
NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)
|
|
|
NM_201253.3(CRB1):c.3950del (p.Asn1317fs)
|
|
|
NM_201253.3(CRB1):c.3952A>T (p.Lys1318Ter)
|
rs1665482895
|
|
NM_201253.3(CRB1):c.3988G>T (p.Glu1330Ter)
|
rs1372774777
|
|
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)
|
rs1057520152
|
|
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter)
|
rs1665487563
|
|
NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter)
|
rs137853136
|
|
NM_201253.3(CRB1):c.4005+1G>A
|
rs890453675
|
|
NM_201253.3(CRB1):c.4005+1G>C
|
rs890453675
|
|
NM_201253.3(CRB1):c.4005+2T>C
|
rs2125514028
|
|
NM_201253.3(CRB1):c.4005+2T>G
|
|
|
NM_201253.3(CRB1):c.4006-1G>A
|
|
|
NM_201253.3(CRB1):c.4006-1G>T
|
rs752804194
|
|
NM_201253.3(CRB1):c.410del (p.Pro137fs)
|
rs1558057153
|
|
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)
|
rs281865175
|
|
NM_201253.3(CRB1):c.4137C>G (p.Tyr1379Ter)
|
rs1206810310
|
|
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)
|
rs1667264651
|
|
NM_201253.3(CRB1):c.4142_4147del (p.Pro1381_Ser1382del)
|
rs2125574108
|
|
NM_201253.3(CRB1):c.4176_4177del (p.Glu1392fs)
|
rs2125574236
|
|
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln)
|
rs1667269806
|
|
NM_201253.3(CRB1):c.4214del (p.Leu1405fs)
|
rs1667270187
|
|
NM_201253.3(CRB1):c.425del (p.Gly142fs)
|
|
|
NM_201253.3(CRB1):c.441_444del (p.Asp148fs)
|
rs1571848688
|
|
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)
|
rs1571848744
|
|
NM_201253.3(CRB1):c.481del (p.Ala161fs)
|
rs62635048
|
|
NM_201253.3(CRB1):c.490C>T (p.Gln164Ter)
|
rs1658684590
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_201253.3(CRB1):c.506del (p.Gly169fs)
|
rs1167867158
|
|
NM_201253.3(CRB1):c.522T>A (p.Cys174Ter)
|
rs1658688864
|
|
NM_201253.3(CRB1):c.523_532dup (p.Tyr178fs)
|
rs1658689096
|
|
NM_201253.3(CRB1):c.535C>T (p.Gln179Ter)
|
|
|
NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)
|
|
|
NM_201253.3(CRB1):c.565G>T (p.Glu189Ter)
|
rs1658692554
|
|
NM_201253.3(CRB1):c.570T>A (p.Cys190Ter)
|
|
|
NM_201253.3(CRB1):c.57dup (p.Ile20fs)
|
rs1343680080
|
|
NM_201253.3(CRB1):c.5del (p.Ala2fs)
|
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201253.3(CRB1):c.624T>A (p.Tyr208Ter)
|
rs1658697788
|
|
NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)
|
|
|
NM_201253.3(CRB1):c.630dup (p.Ile211fs)
|
|
|
NM_201253.3(CRB1):c.652+1G>A
|
rs2125304900
|
|
NM_201253.3(CRB1):c.653-1G>A
|
rs760287363
|
|
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer)
|
rs778731851
|
|
NM_201253.3(CRB1):c.668dup (p.Leu223fs)
|
rs2125328217
|
|
NM_201253.3(CRB1):c.691C>T (p.Gln231Ter)
|
rs1659642763
|
|
NM_201253.3(CRB1):c.70+1G>A
|
rs1237424465
|
|
NM_201253.3(CRB1):c.70+1G>C
|
|
|
NM_201253.3(CRB1):c.716G>T (p.Cys239Phe)
|
rs771079655
|
|
NM_201253.3(CRB1):c.718C>T (p.Gln240Ter)
|
rs2125328350
|
|
NM_201253.3(CRB1):c.71del (p.Asn24fs)
|
rs1654722914
|
|
NM_201253.3(CRB1):c.71delA
|
|
|
NM_201253.3(CRB1):c.733dup (p.Ala245fs)
|
rs1659645978
|
|
NM_201253.3(CRB1):c.743del (p.Cys248fs)
|
|
|
NM_201253.3(CRB1):c.770dup (p.Asp257fs)
|
rs2125328456
|
|
NM_201253.3(CRB1):c.798_799del (p.Ala267fs)
|
rs2125328494
|
|
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs)
|
rs886043587
|
|
NM_201253.3(CRB1):c.805C>T (p.Gln269Ter)
|
rs753224594
|
|
NM_201253.3(CRB1):c.848+1G>A
|
rs2125328634
|
|
NM_201253.3(CRB1):c.962_966del (p.Asp321fs)
|
rs2125333406
|
|
NM_201253.3(CRB1):c.975T>A (p.Cys325Ter)
|
|
|
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)
|
rs1571878277
|
|
NM_201253.3(CRB1):c.986del (p.Pro329fs)
|
|
|
NM_201253.3(CRB1):c.995_996del (p.Thr332fs)
|
rs1660503192
|
|
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp)
|
rs587783015
|
|
NM_201253.3(CRB1):c.998G>C (p.Gly333Ala)
|
rs587783015
|
|
NM_201253.3(CRB1):c.[1208C>G];[1576C>T]
|
|
|
NM_201525.4(ADGRG1):c.-36+10587_-36+10601del
|
rs587777312
|
|
NM_201525.4(ADGRG1):c.1010dup (p.Gln338fs)
|
|
|
NM_201525.4(ADGRG1):c.1036T>A (p.Cys346Ser)
|
rs121908463
|
|
NM_201525.4(ADGRG1):c.10C>T (p.Gln4Ter)
|
rs786204777
|
|
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp)
|
rs121908462
|
|
NM_201525.4(ADGRG1):c.1167+3G>C
|
rs587776623
|
|
NM_201525.4(ADGRG1):c.1216del (p.Leu406fs)
|
rs797045600
|
|
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro)
|
rs587783653
|
|
NM_201525.4(ADGRG1):c.1457G>A (p.Trp486Ter)
|
|
|
NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter)
|
rs587783655
|
|
NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs)
|
rs1567815105
|
|
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter)
|
rs587783657
|
|
NM_201525.4(ADGRG1):c.209C>T (p.Pro70Leu)
|
|
|
NM_201525.4(ADGRG1):c.263A>G (p.Tyr88Cys)
|
rs121908466
|
|
NM_201525.4(ADGRG1):c.265C>T (p.His89Tyr)
|
rs587783658
|
|
NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser)
|
rs121908465
|
|
NM_201525.4(ADGRG1):c.580C>T (p.Gln194Ter)
|
rs2148318641
|
|
NM_201525.4(ADGRG1):c.621-1G>C
|
rs587776624
|
|
NM_201525.4(ADGRG1):c.671del (p.Asp224fs)
|
rs1057517949
|
|
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs)
|
rs587776625
|
|
NM_201525.4(ADGRG1):c.811C>T (p.Arg271Ter)
|
rs768441855
|
|
NM_201525.4(ADGRG1):c.898C>T (p.Gln300Ter)
|
rs1567782714
|
|
NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs)
|
rs797045602
|
|
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
|
|
|
NP_003915.2:p.Ala260[(5_9)]
|
|
|
NR0B1, 1-BP INS, 430G
|
|
|
SOX3, DUP
|
|
|
SPATA7, 3-BP DEL, 1227CAC
|
|
|
Single allele
|
|
|
TTN:c.106668delA (p.Lys35556Argfs)
|
rs587776772
|
|
c.1308C>T
|
|
|
c.52_53delCT
|
|
|
chr17:g.(AC027266_AL353996)_(AC015726-AC087393)del
|
|
|
m.13042G>A
|
rs267606898
|
|
m.3256C>T
|
rs199474659
|
|
m.3271T>C
|
rs199474658
|
|
m.4284G>A
|
rs121434468
|
|
m.4300A>G
|
rs121434470
|
|
m.5877C>T
|
rs118203893
|
|
m.5888delT
|
rs118203892
|
|
m.611G>A
|
rs118203886
|
|
m.8313G>A
|
rs118192101
|
|
m.8344A>G
|
rs118192098
|
|
m.8356T>C
|
rs118192099
|
|
m.8361G>A
|
rs118192104
|
|
p.L4796C
|
|
|
p.M2434K
|
|
|
t(2;14)(q36.1;q12)
|
|
|
t(4;14)(q26;q12)
|
|
|
t(9;14)(q22.31;q12)
|
|
|