ClinVar Miner

List of variants reported as pathogenic for congenital nervous system disorder

Included ClinVar conditions (854):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10799
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HGVS dbSNP gnomAD frequency
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)
GRCh37/hg19 7q36.2-36.3(chr7:154831466-156356088)
GRCh37/hg19 8q22.2(chr8:100067471-100156392)
GRCh37/hg19 8q22.2(chr8:100108619-100160324)
GRCh37/hg19 8q22.2(chr8:100123326-100182391)
GRCh37/hg19 8q22.2(chr8:100168626-100298366)
GRCh37/hg19 8q22.2(chr8:100232749-100493790)
GRCh37/hg19 8q22.2(chr8:100274176-100477297)
GRCh37/hg19 8q22.2(chr8:100479441-100545102)
GRCh37/hg19 8q22.2(chr8:100587642-100712137)
GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1
GRCh37/hg19 9q34.12(chr9:133553916-133554028)
GRCh37/hg19 Xp22.33(chrX:61091-787353)
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)
GRCh37/hg19 Xq28(chrX:152372767-155233731)
GRCh37/hg19 Xq28(chrX:153174571-153609996)
GRCh37/hg19 Xq28(chrX:153217915-153618382)x2
GRCh37/hg19 Xq28(chrX:153247464-153522710)x3
GRCh37/hg19 Xq28(chrX:154305031-154307464)
GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1
GRCh38/hg38 14q12(chr14:28766690-29666306)x1
GRCh38/hg38 16p13.3(chr16:3727580-3851110)x1
GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1
GRCh38/hg38 17p13.1(chr17:7454200-7454618)x0
GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1
GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1
GRCh38/hg38 2q35(chr2:219420345-219431647)x1
GRCh38/hg38 4q24(chr4:106170998-106171368)x0
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1
GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1
GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3
GRCh38/hg38 Xq23(chrX:111250820-111333251)x1
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2
GRCh38/hg38 Xq28(chrX:153905292-154361918)
HNRNPK, IVS16, G-A, +1
IKBKG, 2-BP DEL, 1182TT
K146R
L1CAM, 1.3-KB DUP
LARGE1, GLN87FS
LRPPRC, 8-BP DEL, EXON 35
NC_000001.10:g.(?_10027411)_(10042759_?)del
NC_000001.10:g.(?_10027411)_(10045246_?)del
NC_000001.10:g.(?_10032132)_(10032266_?)del
NC_000001.10:g.(?_10032132)_(10035853_?)del
NC_000001.10:g.(?_10035630)_(10041248_?)del
NC_000001.10:g.(?_10041069)_(10041248_?)del
NC_000001.10:g.(?_10041069)_(10042759_?)del
NC_000001.10:g.(?_153753742)_(153791156_?)del
NC_000001.10:g.(?_196918585)_(197742062_?)del
NC_000001.10:g.(?_197237324)_(197326153_?)del
NC_000001.10:g.(?_197237324)_(197447595_?)del
NC_000001.10:g.(?_197297542)_(197326153_?)del
NC_000001.10:g.(?_197390110)_(197391106_?)del
NC_000001.10:g.(?_197390110)_(197398764_?)del
NC_000001.10:g.(?_197398094)_(197398754_?)del
NC_000001.10:g.(?_197407491)_(197411316_?)del
NC_000001.10:g.(?_197407657)_(197411442_?)del
NC_000001.10:g.(?_197407677)_(197411422_?)del
NC_000001.10:g.(?_197407736)_(197423021_?)del
NC_000001.10:g.(?_197446784)_(197447595_?)del
NC_000001.10:g.(?_211652378)_(211654757_?)del
NC_000001.10:g.(?_218520044)_(220986760_?)del
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
NC_000001.10:g.(?_235827745)_(235827941_?)del
NC_000001.10:g.(?_25870190)_(26142209_?)del
NC_000001.10:g.(?_46654381)_(46656466_?)del
NC_000001.10:g.(?_46655193)_(46661449_?)del
NC_000001.10:g.(?_46656382)_(46662766_?)del
NC_000001.10:g.(?_46662483)_(46671639_?)del
NC_000001.10:g.(?_46663448)_(46664153_?)del
NC_000001.10:g.(?_62921085)_(63153935_?)del
NC_000001.10:g.(?_62971367)_62980255del
NC_000001.10:g.(?_68895449)_(68915598_?)del
NC_000001.10:g.(?_68910194)_(68912563_?)del
NC_000001.10:g.(?_68912383)_(68912553_?)del
NC_000001.10:g.(?_954503)_(992499_?)del
NC_000001.10:g.(?_955543)_(2238214_?)del
NC_000001.11:g.(?_1020153)_(1313808_?)del
NC_000001.11:g.(?_197084314)_(197478465_?)del
NC_000001.11:g.(?_197268194)_(197268492_?)del
NC_000001.11:g.(?_197268413)_(197357013_?)del
NC_000001.11:g.(?_197438537)_(197442544_?)del
NC_000001.11:g.(?_235465599)_(235465734_?)del
NC_000001.11:g.(?_235662920)_(235782107_?)del
NC_000001.11:g.(?_46190463)_(46190794_?)del
NC_000001.11:g.(?_68438187)_(68484090_?)del
NC_000001.11:g.(?_9972074)_(9972188_?)del
NC_000001.11:g.(?_9972074)_(9975775_?)del
NC_000001.11:g.(?_9981011)_(9982721_?)del
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
NC_000002.11:g.(?_152475955)_(152476286_?)del
NC_000002.11:g.(?_152482028)_(152566297_?)del
NC_000002.11:g.(?_152482028)_(152567072_?)del
NC_000002.11:g.(?_152499078)_(152500653_?)del
NC_000002.11:g.(?_152506680)_(152510623_?)del
NC_000002.11:g.(?_152524298)_(152525665_?)del
NC_000002.11:g.(?_152579876)_(152589670_?)del
NC_000002.11:g.(?_219135239)_(220290732_?)del
NC_000002.11:g.(?_220283185)_(220290712_?)del
NC_000002.11:g.(?_236403331)_(242801596_?)del
NC_000002.11:g.(?_237481970)_(238305470_?)del
NC_000002.11:g.(?_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
NC_000002.11:g.(?_69583608)_(69583709_?)del
NC_000002.11:g.44559541_44571008del
NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del
NC_000002.12:g.(?_135052292)_(135176396_?)del
NC_000002.12:g.(?_144517258)_(144517420_?)del
NC_000002.12:g.(?_144517278)_(144517419_?)del
NC_000002.12:g.(?_151485750)_(151957616_?)del
NC_000002.12:g.(?_151614266)_(151697658_?)del
NC_000002.12:g.(?_151645758)_(151648259_?)del
NC_000002.12:g.(?_151646110)_(151646254_?)del
NC_000002.12:g.(?_151646120)_(151646244_?)del
NC_000002.12:g.(?_219418453)_(219426000_?)del
NC_000002.12:g.(?_237358501)_(237361194_?)del
NC_000002.12:g.(?_44280696)_(44346410_?)del
NC_000002.12:g.(?_44280716)_(44346390_?)del
NC_000002.12:g.(?_44320179)_(44346410_?)del
NC_000002.12:g.(?_44321336)_(44346410_?)del
NC_000002.12:g.(?_44321336)_(44359735_?)del
NC_000002.12:g.(?_44321346)_(44359725_?)del
NC_000002.12:g.(?_44359487)_(44359725_?)del
NC_000002.12:g.237345214del
NC_000002.12:g.43986415_44009956del
NC_000003.11:g.(?_167402096)_(167405501_?)del
NC_000003.11:g.(?_167405002)_(167413530_?)del
NC_000003.11:g.(?_167413364)_(167413530_?)del
NC_000003.11:g.(?_167413364)_(167437945_?)del
NC_000003.11:g.(?_167422610)_(167437965_?)del
NC_000003.11:g.(?_167437830)_(167437945_?)del
NC_000003.11:g.(?_43121181)_(43122923_?)del
NC_000003.11:g.(?_69158226)_(69171557_?)del
NC_000003.11:g.136254742_136427833del
NC_000003.12:g.(?_167683298_(167734892_?)del
NC_000003.12:g.(?_167684288)_(167687713_?)del
NC_000003.12:g.(?_167684288)_(167697146_?)del
NC_000003.12:g.(?_167684288)_(167720177_?)del
NC_000004.11:g.(?_3465103)_(3465298_?)del
NC_000004.11:g.(?_3494466)_(3495228_?)del
NC_000004.11:g.(?_493125)_(663896_?)del
NC_000004.11:g.(?_493125)_(998181_?)del
NC_000004.11:g.(?_494165)_(494410_?)del
NC_000004.11:g.(?_501174)_(533158_?)del
NC_000004.11:g.(?_502598)_(509994_?)del
NC_000004.11:g.(?_509742)_(533158_?)del
NC_000004.11:g.(?_520808)_(1020391_?)del
NC_000004.11:g.(?_524205)_(527790_?)del
NC_000004.12:g.(?_154740841)_(154749136_?)del
NC_000004.12:g.(?_3463366)_(3493511_?)del
NC_000004.12:g.(?_3473386)_(3489816_?)del
NC_000004.12:g.(?_3485519)_(3493521_?)del
NC_000004.12:g.(?_3485529)_(3485668_?)del
NC_000004.12:g.(?_3485529)_(3493511_?)del
NC_000004.12:g.106168703_106217941del
NC_000005.10:g.(?_128328686)_(128330705_?)del
NC_000006.11:g.(?_75796253)_(75912518_?)del
NC_000006.11:g.(?_75833026)_(75912508_?)del
NC_000006.11:g.(?_75855798)_(75861023_?)del
NC_000006.12:g.128960376_129175759del
NC_000006.12:g.35506278_35506281del rs2150925640
NC_000007.13:g.(107626809_107635331)_(107635406_107638801)del
NC_000007.13:g.(69985843_69991859)_(70221259_70228020)del
NC_000007.13:g.(91715729_91718698)_(91864237_91972337)del
NC_000007.13:g.(?_102937907)_(103629803_?)del
NC_000007.13:g.(?_103389853)_(103474139_?)del
NC_000007.13:g.(?_128469483)_(128500328_?)del
NC_000007.13:g.(?_128470682)_(128498587_?)del
NC_000007.13:g.(?_128470692)_(128498577_?)del
NC_000007.13:g.(?_128475360)_(128478877_?)del
NC_000007.13:g.(?_128480619)_(128486474_?)del
NC_000007.13:g.(?_128487731)_(128488142_?)del
NC_000007.13:g.(?_152617597)_(158500659_?)del
NC_000007.13:g.(?_155596114)_(155657138_?)del
NC_000007.13:g.(?_16131310)_(16255832_?)del
NC_000007.13:g.(?_16131320)_(16255842_?)del
NC_000007.13:g.(?_16131320)_(16460947_?)del
NC_000007.13:g.(?_16297995)_(16317871_?)del
NC_000007.13:g.(?_16341026)_(16341111_?)del
NC_000007.13:g.(?_16341026)_(16348272_?)del
NC_000007.13:g.(?_16341026)_(16415886_?)del
NC_000007.13:g.(?_16348128)_(16445982_?)del
NC_000007.13:g.(?_16415697)_(16460947_?)del
NC_000007.13:g.(?_16445666)_(16445982_?)del
NC_000007.13:g.(?_16460671)_(16460947_?)del
NC_000007.13:g.(?_45039933)_(45039982_?)del
NC_000007.13:g.(?_45039933)_(45115674_?)del
NC_000007.13:g.(?_45067284)_(45115676_?)del
NC_000007.13:g.(?_45077832)_(45115674_?)del
NC_000007.13:g.(?_45103497)_(45109580_?)del
NC_000007.13:g.(?_45109405)_(45109580_?)del
NC_000007.13:g.(?_66094052)_(66104219_?)del
NC_000007.13:g.(?_66103220)_(66104219_?)del
NC_000007.13:g.(?_91829918)_(91851387_?)del
NC_000007.13:g.(?_91830050)_(91830803_?)del
NC_000007.13:g.(?_91830050)_(91844111_?)del
NC_000007.13:g.(?_91830050)_(91867093_?)del
NC_000007.13:g.(?_91830690)_(91832501_?)del
NC_000007.13:g.(?_91842489)_(91843313_?)del
NC_000007.13:g.(?_91842489)_(91871449_?)del
NC_000007.13:g.(?_91851196)_(91871469_?)del
NC_000007.13:g.(?_91863743)_(91871469_?)del
NC_000007.13:g.(?_91863763)_(91871451_?)del
NC_000007.13:g.(?_91866961)_(91871469_?)del
NC_000007.14:g.(45018761_45019059)_(45095530_45095828)del
NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del
NC_000007.14:g.(70435782_70698569)_(70766334_70768023)del
NC_000007.14:g.(?_128830618)_(128858543_?)del
NC_000007.14:g.(?_128848551)_(128848992_?)del
NC_000007.14:g.(?_16091675)_(16216217_?)del
NC_000007.14:g.(?_16216046)_(16376261_?)del
NC_000007.14:g.(?_16258370)_(16259032_?)del
NC_000007.14:g.(?_16301411)_(16308637_?)del
NC_000007.14:g.(?_16308513)_(16376251_?)del
NC_000007.14:g.(?_16308523)_(16689906_?)del
NC_000007.14:g.(?_16406061)_(16406337_?)del
NC_000007.14:g.(?_45027705)_(45086112_?)del
NC_000007.14:g.(?_45038233)_(45038446_?)del
NC_000007.14:g.(?_45038253)_(45076470_?)del
NC_000007.14:g.(?_66629045)_(66640414_?)del
NC_000007.14:g.(?_66638233)_(66639252_?)del
NC_000007.14:g.(?_92213175)_(92242155_?)del
NC_000007.14:g.(?_92225700)_(92226702_?)del
NC_000007.14:g.(?_92234429)_(92234943_?)del
NC_000007.14:g.(?_92240973)_(92242155_?)del
NC_000007.14:g.128837160del
NC_000007.14:g.128854417_128854448del
NC_000007.14:g.30959635_30967328delinsAGAGATCCA
NC_000007.14:g.30963945A>C rs2128596101
NC_000007.14:g.31008681G>T rs1562606449
NC_000007.14:g.45043702_46521017delins[AGAAGGAAATTT;45310743_46521014;45043709_45310738inv]
NC_000007.14:g.62535490A>G rs483352872
NC_000007.14:g.92201424dup rs2131089744
NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del
NC_000008.10:g.(?_100025484)_(100026173_?)del
NC_000008.10:g.(?_100026017)_(100026183_?)del
NC_000008.10:g.(?_100026017)_(100887894_?)del
NC_000008.10:g.(?_100050631)_(100115368_?)del
NC_000008.10:g.(?_100108530)_(100128112_?)del
NC_000008.10:g.(?_100108530)_(100155403_?)dup
NC_000008.10:g.(?_100108530)_(100182401_?)del
NC_000008.10:g.(?_100108530)_(100205295_?)del
NC_000008.10:g.(?_100108530)_(100287492_?)del
NC_000008.10:g.(?_100108530)_(100494040_?)del
NC_000008.10:g.(?_100123306)_(100182411_?)del
NC_000008.10:g.(?_100123306)_(100403952_?)del
NC_000008.10:g.(?_100123316)_(100123517_?)del
NC_000008.10:g.(?_100133395)_(100134000_?)del
NC_000008.10:g.(?_100146850)_(100221906_?)del
NC_000008.10:g.(?_100146850)_(100287492_?)del
NC_000008.10:g.(?_100146850)_(100533248_?)del
NC_000008.10:g.(?_100147223)_(100155413_?)del
NC_000008.10:g.(?_100155192)_(100287492_?)del
NC_000008.10:g.(?_100160049)_(100160258_?)del
NC_000008.10:g.(?_100160049)_(100168991_?)del
NC_000008.10:g.(?_100182257)_(100221906_?)del
NC_000008.10:g.(?_100182257)_(100479872_?)del
NC_000008.10:g.(?_100205084)_(100454883_?)del
NC_000008.10:g.(?_100205094)_(100287492_?)del
NC_000008.10:g.(?_100205094)_(100733285_?)del
NC_000008.10:g.(?_100286406)_(100494050_?)del
NC_000008.10:g.(?_100286406)_(100520159_?)del
NC_000008.10:g.(?_100286406)_(100523760_?)del
NC_000008.10:g.(?_100286406)_(100874194_?)del
NC_000008.10:g.(?_100286416)_(100454873_?)del
NC_000008.10:g.(?_100286416)_(100568891_?)del
NC_000008.10:g.(?_100286416)_(100673729_?)del
NC_000008.10:g.(?_100286416)_(100821768_?)del
NC_000008.10:g.(?_100396416)_(100396565_?)del
NC_000008.10:g.(?_100396416)_(100443912_?)del
NC_000008.10:g.(?_100396426)_(100403942_?)del
NC_000008.10:g.(?_100396426)_(100454873_?)del
NC_000008.10:g.(?_100396426)_(100523750_?)del
NC_000008.10:g.(?_100396426)_(100589871_?)del
NC_000008.10:g.(?_100403765)_(100403952_?)del
NC_000008.10:g.(?_100443745)_(100443912_?)del
NC_000008.10:g.(?_100443745)_(100589881_?)del
NC_000008.10:g.(?_100443755)_(100568891_?)del
NC_000008.10:g.(?_100454619)_(100533248_?)del
NC_000008.10:g.(?_100454619)_(100673729_?)del
NC_000008.10:g.(?_100479622)_(100533258_?)del
NC_000008.10:g.(?_100479622)_(100589881_?)del
NC_000008.10:g.(?_100479632)_(100494040_?)del
NC_000008.10:g.(?_100493807)_(100533258_?)del
NC_000008.10:g.(?_100493807)_(100729621_?)del
NC_000008.10:g.(?_100493817)_(100588022_?)del
NC_000008.10:g.(?_100513905)_(100514096_?)del
NC_000008.10:g.(?_100533107)_(100588032_?)del
NC_000008.10:g.(?_100533107)_(100733295_?)del
NC_000008.10:g.(?_100533117)_(100568891_?)del
NC_000008.10:g.(?_100568668)_(100568891_?)del
NC_000008.10:g.(?_100568668)_(100589871_?)del
NC_000008.10:g.(?_100568668)_(100654736_?)del
NC_000008.10:g.(?_100568668)_(100673729_?)del
NC_000008.10:g.(?_100587866)_(100589881_?)dup
NC_000008.10:g.(?_100654019)_(100673739_?)del
NC_000008.10:g.(?_100654029)_(100654736_?)del
NC_000008.10:g.(?_100654029)_(100673729_?)del
NC_000008.10:g.(?_100654029)_(100712170_?)del
NC_000008.10:g.(?_100654029)_(100733285_?)del
NC_000008.10:g.(?_100711733)_(100796724_?)del
NC_000008.10:g.(?_100778992)_(100779208_?)del
NC_000008.10:g.(?_100830669)_(100833720_?)del
NC_000008.10:g.(?_100860984)_(100866504_?)del
NC_000008.10:g.(?_100883666)_(100883935_?)del
NC_000008.10:g.100246250_100460500del
NC_000008.11:g.(?_43103539)_(43103840_?)del
NC_000008.11:g.(?_99013769)_(99209688_?)del
NC_000008.11:g.(?_99096292)_(99193077_?)del
NC_000008.11:g.(?_99096292)_(99577653_?)del
NC_000008.11:g.(?_99096302)_(99136762_?)del
NC_000008.11:g.(?_99096302)_(99556663_?)del
NC_000008.11:g.(?_99102953)_(99170163_?)del
NC_000008.11:g.(?_99111088)_(99170173_?)del
NC_000008.11:g.(?_99115680)_(99193077_?)del
NC_000008.11:g.(?_99121157)_(99193077_?)del
NC_000008.11:g.(?_99121167)_(99721057_?)del
NC_000008.11:g.(?_99134612)_(99136772_?)del
NC_000008.11:g.(?_99135005)_(99143175_?)del
NC_000008.11:g.(?_99135015)_(99143165_?)del
NC_000008.11:g.(?_99170039)_(99170163_?)del
NC_000008.11:g.(?_99209572)_(99391724_?)del
NC_000008.11:g.(?_99274178)_(99577653_?)del
NC_000008.11:g.(?_99274178)_(99721067_?)del
NC_000008.11:g.(?_99384188)_(99511532_?)del
NC_000008.11:g.(?_99391537)_(99521030_?)del
NC_000008.11:g.(?_99391557)_(99556653_?)del
NC_000008.11:g.(?_99431517)_(99721067_?)del
NC_000008.11:g.(?_99467404)_(99521020_?)del
NC_000008.11:g.(?_99481579)_(99721067_?)del
NC_000008.11:g.(?_99501677)_(99502960_?)del
NC_000008.11:g.(?_99520889)_(99521020_?)del
NC_000008.11:g.(?_99520899)_(99584089_?)del
NC_000008.11:g.(?_99556430)_(99577653_?)del
NC_000008.11:g.(?_99556430)_(99642518_?)del
NC_000008.11:g.(?_99661334)_(99661511_?)del
NC_000008.11:g.(?_99661344)_(99784486_?)del
NC_000009.11:g.(13133904_13136090)_(13136182_13136710)del
NC_000009.11:g.(?_108320401)_(108337428_?)del
NC_000009.11:g.(?_108335926)_(108403409_?)del
NC_000009.11:g.(?_108337304)_(108397555_?)del
NC_000009.11:g.(?_108337314)_(108468054_?)del
NC_000009.11:g.(?_108358859)_(108484922_?)del
NC_000009.11:g.(?_108377549)_(108382383_?)del
NC_000009.11:g.(?_113431185)_(113550138_?)del
NC_000009.11:g.(?_113444934)_(113449568_?)del
NC_000009.11:g.(?_113449377)_(113457830_?)del
NC_000009.11:g.(?_113509901)_(113538955_?)del
NC_000009.11:g.(?_130216807)_(130953136_?)del
NC_000009.11:g.(?_79792621)_(80944002_?)del
NC_000009.11:g.(?_80915498)_(80916959_?)del
NC_000009.11:g.(?_80921210)_(80923519_?)del
NC_000009.12:g.(?_105546358)_(105620061_?)del
NC_000009.12:g.(?_105575023)_(105575147_?)del
NC_000009.12:g.(?_105606576)_(105641128_?)del
NC_000009.12:g.(?_110668885)_(110801008_?)del
NC_000009.12:g.(?_110734231)_(110734395_?)del
NC_000009.12:g.(?_136197325)_(136205012_?)del
NC_000009.12:g.105604215del
NC_000009.12:g.130677193_130686925del
NC_000010.10:g.(?_50821083)_(50874150_?)del
NC_000010.10:g.(?_50856533)_(50857702_?)del
NC_000010.10:g.(?_73970434)_(73973122_?)del
NC_000010.10:g.34835589_34975192del139604
NC_000010.11:g.(?_49614170)_(49665066_?)del
NC_000010.11:g.68247368_68253890del
NC_000010.11:g.72138925_72163147del
NC_000011.10:g.(?_47437955)_(47438951_?)del
NC_000011.10:g.(?_47437965)_(47438941_?)del
NC_000011.10:g.(?_47447802)_(47449175_?)del
NC_000011.8:g.(67967534_67967551)_(67974756_67974774)del
NC_000011.9:g.(?_118967698)_(119170501_?)del
NC_000011.9:g.(?_46880534)_(47470516_?)del
NC_000011.9:g.(?_47459516)_(47459608_?)del
NC_000011.9:g.(?_47460273)_(47460492_?)del
NC_000011.9:g.(?_47462700)_(47463483_?)del
NC_000011.9:g.(?_47467519)_(47469609_?)del
NC_000011.9:g.(?_47469354)_(47470726_?)del
NC_000011.9:g.(?_47469557)_(47478800_?)del
NC_000012.11:g.(116484299_116497981)_(116681549_116695774)dup
NC_000012.11:g.(?_56091458)_(56093230_?)del
NC_000012.12:g.(?_55697675)_(55698937_?)del
NC_000013.10:g.(?_92002837)_(103343314_?)del
NC_000013.10:g.(?_99336978)_(102379160_?)del
NC_000013.10:g.99162946_101376965del
NC_000013.11:g.(?_99385979)_(99986648_?)del
NC_000014.8:g.(?_21756136)_(21756240_?)del
NC_000014.8:g.(?_21756136)_(22005055_?)del
NC_000014.8:g.(?_21762816)_(21762988_?)dup
NC_000014.8:g.(?_21762816)_(21795986_?)del
NC_000014.8:g.(?_21785835)_(21788356_?)del
NC_000014.8:g.(?_21785835)_(21796806_?)del
NC_000014.8:g.(?_21795782)_(21795966_?)del
NC_000014.8:g.(?_21798388)_(21798566_?)del
NC_000014.8:g.(?_29236486)_(29237955_?)del
NC_000014.8:g.(?_77755085)_(77762636_?)del
NC_000014.8:g.(?_88852143)_(88904786_?)del
NC_000014.8:g.(?_88852163)_(88862567_?)del
NC_000014.8:g.(?_88852163)_(88904766_?)del
NC_000014.9:g.(?_21317696)_(21320177_?)del
NC_000014.9:g.(?_28767260)_(28768769_?)del
NC_000014.9:g.(?_34710372)_(34713686_?)del
NC_000014.9:g.(?_34712845)_(34714560_?)del
NC_000015.10:g.(?_31001061)_(31161273_?)del
NC_000016.10:g.(?_3727698)_(3793646_?)del
NC_000016.10:g.(?_3727698)_(3810799_?)del
NC_000016.10:g.(?_3727698)_(4802591_?)del
NC_000016.10:g.(?_3744874)_(4337544_?)del
NC_000016.10:g.(?_3757268)_(3757396_?)del
NC_000016.10:g.(?_3780712)_(3781326_?)del
NC_000016.10:g.(?_3791961)_(3792114_?)del
NC_000016.10:g.(?_3810583)_(3879936_?)del
NC_000016.10:g.(?_3879812)_(3879936_?)del
NC_000016.10:g.(?_89268458)_(89288690_?)del
NC_000016.10:g.(?_89268458)_(89317039_?)del
NC_000016.10:g.89490211_89491991del
NC_000016.9:g.(?_3293141)_(3929917_?)del
NC_000016.9:g.(?_3711968)_(3781958_?)del
NC_000016.9:g.(?_3721703)_(3790570_?)del
NC_000016.9:g.(?_3781438)_(3788947_?)del
NC_000016.9:g.(?_3786017)_(3860800_?)del
NC_000016.9:g.(?_3799608)_(3821007_?)dup
NC_000016.9:g.(?_3817701)_(3817930_?)dup
NC_000016.9:g.(?_3817701)_(3860800_?)del
NC_000016.9:g.(?_3823732)_(3831327_?)del
NC_000016.9:g.(?_3827594)_(3832947_?)del
NC_000016.9:g.(?_3841962)_(3843647_?)del
NC_000016.9:g.(?_3900278)_(3901030_?)del
NC_000016.9:g.(?_3900278)_(3929917_?)del
NC_000016.9:g.(?_89334886)_(89371772_?)del
NC_000016.9:g.68345747_68361056del
NC_000016.9:g.88365786_89584412del1218627
NC_000016.9:g.89306725_89339913del33189
NC_000017.10:g.(7352108_7357615)_(7357840_7358602)del
NC_000017.10:g.(?_4802021)_(4802196_?)del
NC_000017.10:g.(?_4805539)_(4806690_?)del
NC_000017.10:g.(?_6328760)_(6616672_?)del
NC_000017.10:g.(?_6331618)_(6338424_?)del
NC_000017.10:g.(?_7906366)_(7912924_?)del
NC_000017.11:g.(63914995_63921260)del
NC_000017.11:g.(?_4898726)_(4948404_?)del
NC_000017.11:g.(?_4901641)_(4903159_?)del
NC_000017.11:g.(?_7454277)_(7454540_?)del
NC_000017.11:g.(?_7454287)_(7454530_?)del
NC_000017.11:g.(?_8002902)_(8016550_?)del
NC_000017.11:g.2665367T>C
NC_000018.10:g.(?_3447720)_(3457960_?)del
NC_000018.9:g.(?_2847807)_(3582246_?)del
NC_000019.10:g.(?_46755431)_(46756958_?)del
NC_000019.9:g.(?_47255735)_(47259270_?)del
NC_000019.9:g.(?_47255735)_47259271del
NC_000019.9:g.(?_47258698)_(47260205_?)del
NC_000019.9:g.(?_48337701)_(48343224_?)del
NC_000019.9:g.(?_48339480)_(48343224_?)del
NC_000019.9:g.(?_48339500)_(48343224_?)del
NC_000021.7:g.37796500_37849000del
NC_000021.8:g.(?_38792657)_(38884854_?)del
NC_000021.8:g.(?_38844966)_(38845202_?)del
NC_000021.8:g.(?_38844966)_(38884854_?)del
NC_000021.8:g.(?_47407403)_(47407578_?)del
NC_000021.8:g.(?_47408988)_(47410346_?)del
NC_000021.8:g.(?_47422287)_(47423978_?)del
NC_000021.8:g.(?_47529674)_(47540994_?)del
NC_000021.8:g.(?_47529674)_47540994del
NC_000021.8:g.(?_47533070)_47584395del
NC_000021.8:g.(?_47536737)_(47537399_?)del
NC_000021.9:g.(?_45981831)_(46132572_?)del
NC_000021.9:g.(?_45986526)_(45987654_?)del
NC_000021.9:g.(?_45989064)_(45989157_?)del
NC_000021.9:g.(?_46111467)_(46121133_?)del
NC_000021.9:g.(?_46111477)_(46121123_?)del
NC_000021.9:g.37347863_37423682del
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)
NM_000081.4(LYST):c.433C>T (p.Arg145Ter)
NM_000081.4(LYST):c.4434G>A (p.Trp1478Ter)
NM_000081.4(LYST):c.4469del (p.Thr1490fs)
NM_000081.4(LYST):c.4479del (p.Gly1494fs)
NM_000081.4(LYST):c.4498_4502del (p.Arg1500fs)
NM_000081.4(LYST):c.4900A>T (p.Lys1634Ter)
NM_000081.4(LYST):c.4978C>T (p.Gln1660Ter)
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)
NM_000081.4(LYST):c.5519C>G (p.Ser1840Ter)
NM_000081.4(LYST):c.575del (p.Phe191_Leu192insTer)
NM_000081.4(LYST):c.575dup (p.Leu192fs)
NM_000081.4(LYST):c.5785C>T (p.Gln1929Ter)
NM_000081.4(LYST):c.5881C>T (p.Gln1961Ter)
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.4(LYST):c.6077dup (p.Tyr2026Ter)
NM_000081.4(LYST):c.6078C>G (p.Tyr2026Ter)
NM_000081.4(LYST):c.6187del (p.Arg2063fs)
NM_000081.4(LYST):c.6283C>T (p.Gln2095Ter)
NM_000081.4(LYST):c.6397C>T (p.Gln2133Ter)
NM_000081.4(LYST):c.6676C>T (p.Arg2226Ter)
NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.713_714insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGGCGCGGACGGGGAGCCGGGCCCGGAGCCGCCGTCACGGCCGCGACCGCCCCGCGGGGCCGGCCTGGGCCGCGCTCAAACACTGACATTTT (p.Ile237_Leu238insPhePhePhePhePhePhePheXaaXaaXaaXaaGlyArgGlyArgGlyAlaGlyProGlyAlaAlaValThrAlaAlaThrAlaProArgGlyArgProGlyProArgSerAsnThrAspIle)
NM_000081.4(LYST):c.7168C>T (p.Gln2390Ter)
NM_000081.4(LYST):c.7499del (p.Ile2500fs)
NM_000081.4(LYST):c.7645C>T (p.Gln2549Ter)
NM_000081.4(LYST):c.7786C>T (p.Arg2596Ter)
NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter)
NM_000081.4(LYST):c.8122dup (p.Tyr2708fs)
NM_000081.4(LYST):c.8358+2T>C
NM_000081.4(LYST):c.8373_8376del (p.Leu2791fs)
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)
NM_000081.4(LYST):c.8691_8692del (p.Gln2898fs)
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)
NM_000081.4(LYST):c.9143del (p.Ser3048fs)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9239G>A (p.Trp3080Ter)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_000081.4(LYST):c.934del (p.Ser312fs)
NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)
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)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
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)
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)

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