ClinVar Miner

List of variants reported as likely pathogenic for congenital nervous system disorder

Included ClinVar conditions (854):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8496
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
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_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) rs362800 0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
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_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) rs121917814 0.00049
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
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_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
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_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 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_004341.5(CAD):c.5429G>A (p.Arg1810Gln) rs139332887 0.00028
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly) rs199473676 0.00026
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_002291.3(LAMB1):c.2315-28A>G rs778943882 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842 0.00016
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val) rs532329866 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583 0.00014
NM_001080442.3(SLC38A8):c.388+5G>A rs760391436 0.00014
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro) rs150802299 0.00014
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092 0.00014
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 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_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His) rs148920986 0.00010
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His) rs369169235 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_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 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_001164508.2(NEB):c.22590+2T>C rs200449517 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_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 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_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 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_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 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_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001267550.2(TTN):c.39895+1G>T rs749931280 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_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222 0.00006
NM_004855.5(PIGB):c.463G>C (p.Asp155His) rs372158001 0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_007129.5(ZIC2):c.*954T>A rs760662121 0.00006
NM_016023.5(OTUD6B):c.686T>C (p.Leu229Pro) rs150848976 0.00006
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly) rs142217951 0.00006
NM_016213.5(TRIP4):c.925C>T (p.Arg309Ter) rs147303485 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 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_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00006
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter) rs191912891 0.00005
NM_000426.4(LAMA2):c.5562+1G>A rs376014152 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001101426.4(CRPPA):c.835+2T>C rs773325665 0.00005
NM_001163435.3(TBCK):c.2060-2A>G rs62321379 0.00005
NM_001164508.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587 0.00005
NM_001267550.2(TTN):c.36310G>T (p.Glu12104Ter) rs1455879402 0.00005
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val) rs774521989 0.00005
NM_002206.3(ITGA7):c.2357+1G>A rs200402328 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys) rs121909066 0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys) rs782785654 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_152443.3(RDH12):c.278T>C (p.Leu93Pro) rs527800020 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NC_000017.11:g.8002596T>C rs774980016 0.00004
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.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000426.4(LAMA2):c.149C>T (p.Ala50Val) rs191899712 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 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.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735 0.00004
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283 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_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val) rs180869804 0.00004
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001371986.1(UNC80):c.298+2T>C rs143612678 0.00004
NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile) rs776720609 0.00004
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993 0.00004
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln) rs139552940 0.00004
NM_001849.4(COL6A2):c.2627G>A (p.Arg876His) rs1012567148 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 0.00004
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017 0.00004
NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys) rs752441031 0.00004
NM_005886.3(KATNB1):c.1416+1G>A rs376558334 0.00004
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) rs367585605 0.00004
NM_006261.5(PROP1):c.359G>A (p.Arg120His) rs769171020 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.218+1G>T rs546692544 0.00004
NM_020366.4(RPGRIP1):c.3749-2A>G rs376517859 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_024301.5(FKRP):c.229C>T (p.Gln77Ter) rs1051900223 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 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_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn) rs753340395 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_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_207312.3(TUBA3E):c.643C>T (p.Arg215Cys) rs730882212 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_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met) rs61749673 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000266.4(NDP):c.269G>A (p.Arg90His) rs104894867 0.00003
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000426.4(LAMA2):c.4960-17C>A rs758048596 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000426.4(LAMA2):c.640-1G>A rs1296761337 0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) rs1209130981 0.00003
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559 0.00003
NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met) rs575446156 0.00003
NM_001004334.4(GPR179):c.4550dup (p.Met1517fs) rs756928373 0.00003
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171 0.00003
NM_001077365.2(POMT1):c.2004-1G>C rs745738628 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001164508.2(NEB):c.19836+1G>A rs1446930968 0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641 0.00003
NM_001164508.2(NEB):c.22800+1G>A rs1302373559 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_001195553.2(DCX):c.-22-364C>T rs761786389 0.00003
NM_001267550.2(TTN):c.40723+1G>T rs371770198 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter) rs542074139 0.00003
NM_001267550.2(TTN):c.8902+1G>A rs770392096 0.00003
NM_001286535.2(RAD9B):c.28A>G (p.Ser10Gly) rs372056091 0.00003
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) rs145577757 0.00003
NM_001368882.1(COL13A1):c.1285-1G>C rs763197055 0.00003
NM_001371986.1(UNC80):c.5296C>T (p.Pro1766Ser) rs869025316 0.00003
NM_001379500.1(COL18A1):c.929-2A>G rs765919785 0.00003
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443 0.00003
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter) rs141365537 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln) rs1313593155 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004744.5(LRAT):c.224C>T (p.Pro75Leu) rs766279892 0.00003
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln) rs776483190 0.00003
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met) rs753866301 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg) rs776024427 0.00003
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys) rs755588045 0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_020451.3(SELENON):c.1010+1G>A rs908682527 0.00003
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys) rs368074297 0.00003
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met) rs769234940 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_021971.4(GMPPB):c.760G>A (p.Val254Met) rs875989850 0.00003
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947 0.00003
NM_025114.4(CEP290):c.1523-412C>T rs1381940328 0.00003
NM_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs) rs747569790 0.00003
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys) rs187584458 0.00003
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr) rs761231974 0.00003
NM_152443.3(RDH12):c.697G>C (p.Val233Leu) rs140257538 0.00003
NM_152564.5(VPS13B):c.7248-1G>A rs763079458 0.00003
NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg) rs762345055 0.00003
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 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.4168C>T (p.Arg1390Ter) rs763324776 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
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_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000426.4(LAMA2):c.283+1G>A rs200288072 0.00002
NM_000426.4(LAMA2):c.4176+1G>A rs1404492484 0.00002
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter) rs369776766 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.7377dup (p.Leu2460fs) rs749566145 0.00002
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs) rs1293303410 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg) rs757157750 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.15089G>A (p.Arg5030His) rs747155223 0.00002
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs) rs759632485 0.00002
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val) rs193922791 0.00002
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp) rs1057518970 0.00002
NM_000554.6(CRX):c.166G>A (p.Ala56Thr) rs61748437 0.00002
NM_000823.4(GHRHR):c.527C>T (p.Ala176Val) rs774281185 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.2098G>A (p.Gly700Arg) rs912556508 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.1325A>G (p.Asn442Ser) rs1429464723 0.00002
NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter) rs1318750068 0.00002
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg) rs778210210 0.00002
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001244710.2(GFPT1):c.209A>G (p.Asp70Gly) rs530830788 0.00002
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys) rs387906862 0.00002
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_001267550.2(TTN):c.107628del (p.Asn35876fs) rs766624923 0.00002
NM_001267550.2(TTN):c.16621+1G>T rs761965693 0.00002
NM_001267550.2(TTN):c.34855+1G>A rs377319699 0.00002
NM_001267550.2(TTN):c.35797+1G>T rs917175304 0.00002
NM_001267550.2(TTN):c.52406-2A>C rs753798236 0.00002
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001271208.2(NEB):c.17276del (p.Gln5759fs) rs1346554177 0.00002
NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser) rs747105829 0.00002
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897 0.00002
NM_001365999.1(SZT2):c.2363C>G (p.Ser788Ter) rs769366055 0.00002
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) rs765848129 0.00002
NM_001367561.1(DOCK7):c.4380-1G>T rs774949595 0.00002
NM_001371986.1(UNC80):c.1513C>T (p.Arg505Ter) rs767633598 0.00002
NM_001371986.1(UNC80):c.6805G>A (p.Asp2269Asn) rs886041094 0.00002
NM_001927.4(DES):c.1288+1G>A rs112224037 0.00002
NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter) rs201217202 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) rs62636511 0.00002
NM_003322.6(TULP1):c.932G>A (p.Arg311Gln) rs1279906432 0.00002
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter) rs730882240 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp) rs146918863 0.00002
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) rs267606948 0.00002
NM_013382.7(POMT2):c.1006+5G>A rs587780422 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_013382.7(POMT2):c.796G>A (p.Gly266Arg) rs761773211 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997 0.00002
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter) rs373221034 0.00002
NM_017739.4(POMGNT1):c.1649+1G>A rs752700398 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 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.2398G>A (p.Glu800Lys) rs565837539 0.00002
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter) rs1030149008 0.00002
NM_020549.5(CHAT):c.1492T>C (p.Ser498Pro) rs1409506586 0.00002
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val) rs372066126 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_025099.6(CTC1):c.2758+1G>T rs200609323 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_145064.3(STAC3):c.432+1G>A rs780801708 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 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.458G>A (p.Arg153His) rs765235486 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_173660.5(DOK7):c.773-2_773-1del rs770163440 0.00002
NM_194277.3(FRMD7):c.875T>C (p.Leu292Pro) rs192346335 0.00002
NM_198576.4(AGRN):c.5012G>A (p.Arg1671Gln) rs769667244 0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040 0.00002
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_000080.4(CHRNE):c.-96C>T rs748144899 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.500G>T (p.Arg167Leu) rs121909514 0.00001
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg) rs759226183 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.2008C>T (p.Arg670Trp) rs931906767 0.00001
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu) rs765463082 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670 0.00001
NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu) rs138922415 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp) rs760042062 0.00001
NM_000306.4(POU1F1):c.212C>T (p.Ala71Val) rs771947200 0.00001
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter) rs761275346 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.235T>C (p.Tyr79His) rs61752869 0.00001
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile) rs1444234037 0.00001
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly) rs1571170561 0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) rs774309607 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.917C>T (p.Thr306Ile) rs1171545533 0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg) rs1375943362 0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000426.4(LAMA2):c.112+1G>A rs398123367 0.00001
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg) rs920771326 0.00001
NM_000426.4(LAMA2):c.2322+1G>C rs945091158 0.00001
NM_000426.4(LAMA2):c.2323-1G>T rs1278823424 0.00001
NM_000426.4(LAMA2):c.2451-1del rs767784355 0.00001
NM_000426.4(LAMA2):c.2749+1G>C rs759555791 0.00001
NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter) rs375638381 0.00001
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr) rs374403765 0.00001
NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter) rs752094219 0.00001
NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter) rs1441933780 0.00001
NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter) rs1383756739 0.00001
NM_000426.4(LAMA2):c.3556-13T>A rs775278003 0.00001
NM_000426.4(LAMA2):c.3736-2A>T rs372715292 0.00001
NM_000426.4(LAMA2):c.396+1G>T rs770617208 0.00001
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs) rs1433071073 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter) rs762342110 0.00001
NM_000426.4(LAMA2):c.5602G>T (p.Glu1868Ter) rs1276300668 0.00001
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs) rs398123377 0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378 0.00001
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His) rs779326725 0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_000426.4(LAMA2):c.6993-2A>C rs200669208 0.00001
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915 0.00001
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter) rs776104105 0.00001
NM_000426.4(LAMA2):c.7572+1G>A rs1554305006 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter) rs1463264889 0.00001
NM_000426.4(LAMA2):c.9295A>T (p.Lys3099Ter) rs749797580 0.00001
NM_000430.4(PAFAH1B1):c.818G>A (p.Arg273Gln) rs794729199 0.00001
NM_000515.5(GH1):c.626G>A (p.Arg209His) rs137853223 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14129+1G>A rs142929172 0.00001
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met) rs193922884 0.00001
NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys) rs764602570 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met) rs145088074 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.4715T>C (p.Met1572Thr) rs1165213387 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met) rs776830747 0.00001
NM_000540.3(RYR1):c.658C>T (p.Arg220Cys) rs1220780685 0.00001
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter) rs1365856881 0.00001
NM_000540.3(RYR1):c.839G>A (p.Arg280Gln) rs1319877486 0.00001
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp) rs193922830 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_000540.3(RYR1):c.9716T>A (p.Met3239Lys) rs371027185 0.00001
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln) rs200848306 0.00001
NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter) rs1049885467 0.00001
NM_001004334.4(GPR179):c.148C>T (p.Gln50Ter) rs767430727 0.00001
NM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln) rs1045177462 0.00001
NM_001077365.2(POMT1):c.1176-2A>G rs746523421 0.00001
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys) rs1397478363 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.697_699del (p.Asn233del) rs761863400 0.00001
NM_001077365.2(POMT1):c.699+62del rs1356791510 0.00001
NM_001077365.2(POMT1):c.699+67G>A rs776061161 0.00001
NM_001077365.2(POMT1):c.699+68T>C rs759254028 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.369+1G>C rs764125009 0.00001
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512 0.00001
NM_001079802.2(FKTN):c.911-1G>A rs958678700 0.00001
NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs) rs387907321 0.00001
NM_001100.4(ACTA1):c.460G>T (p.Val154Leu) rs768144106 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_001101.5(ACTB):c.94C>T (p.Pro32Ser) rs779839358 0.00001
NM_001101426.4(CRPPA):c.676T>C (p.Tyr226His) rs1282788711 0.00001
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter) rs748370008 0.00001
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter) rs1182277140 0.00001
NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter) rs772573829 0.00001
NM_001122769.3(LCA5):c.859-2A>G rs757681601 0.00001
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr) rs1178243254 0.00001
NM_001127178.3(PIGG):c.1332+1G>A rs779043705 0.00001
NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter) rs1418085145 0.00001
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr) rs755786784 0.00001
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe) rs370050799 0.00001
NM_001163435.3(TBCK):c.389T>A (p.Ile130Asn) rs1213724402 0.00001
NM_001163435.3(TBCK):c.456-2A>G rs780527809 0.00001
NM_001164508.2(NEB):c.11076+1G>A rs1460365350 0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_001164508.2(NEB):c.1153-2A>G rs1553609515 0.00001
NM_001164508.2(NEB):c.12330+2T>C rs1374971806 0.00001
NM_001164508.2(NEB):c.1258-2A>G rs1553608621 0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001164508.2(NEB):c.1365+2T>C rs770797137 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.1570-2del rs2099590816 0.00001
NM_001164508.2(NEB):c.1674+1G>T rs750585238 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.20577+2T>C rs1185654671 0.00001
NM_001164508.2(NEB):c.20787+2T>C rs1337287633 0.00001
NM_001164508.2(NEB):c.21313-2A>T rs1212081578 0.00001
NM_001164508.2(NEB):c.21736-13_21743del rs767772838 0.00001
NM_001164508.2(NEB):c.2211+5G>T rs797045736 0.00001
NM_001164508.2(NEB):c.22375-1G>A rs949331605 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.22696-1G>A rs745511810 0.00001
NM_001164508.2(NEB):c.22905+2T>C rs1553623367 0.00001
NM_001164508.2(NEB):c.23016+1G>A rs111833078 0.00001
NM_001164508.2(NEB):c.23127+2T>C rs112610938 0.00001
NM_001164508.2(NEB):c.23451+1G>T rs1011425121 0.00001
NM_001164508.2(NEB):c.24022-1G>C rs1553561697 0.00001
NM_001164508.2(NEB):c.2415+2T>C rs1057517399 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.24300+1G>A rs1366853918 0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs) rs1257495033 0.00001
NM_001164508.2(NEB):c.24393+1G>A rs775631800 0.00001
NM_001164508.2(NEB):c.25404+1_25404+2insATGGA rs1357452519 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+2T>C rs773952935 0.00001
NM_001164508.2(NEB):c.295-2A>G rs1428300892 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.5344-1G>C rs1197561990 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.8020G>A (p.Glu2674Lys) rs369224273 0.00001
NM_001164508.2(NEB):c.9414+1G>T rs1255445731 0.00001
NM_001171613.2(PREPL):c.-49+1734C>T rs374594354 0.00001
NM_001171613.2(PREPL):c.1262+1G>A rs1172015222 0.00001
NM_001171613.2(PREPL):c.1263-1G>C rs1316112168 0.00001
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter) rs769501930 0.00001
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His) rs189717232 0.00001
NM_001252024.2(TRPM1):c.1966C>T (p.Arg656Ter) rs763546583 0.00001
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter) rs1485132228 0.00001
NM_001252024.2(TRPM1):c.279+147T>G rs150441866 0.00001
NM_001256850.1(TTN):c.51809dup (p.Asp17270fs) rs397517626 0.00001
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931 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.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.103408G>T (p.Glu34470Ter) rs769023413 0.00001
NM_001267550.2(TTN):c.103771C>T (p.Arg34591Ter) rs967542291 0.00001
NM_001267550.2(TTN):c.103945C>T (p.Arg34649Ter) rs995029896 0.00001
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) rs750519430 0.00001
NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter) rs1202115268 0.00001
NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter) rs991187915 0.00001
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924 0.00001
NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs) rs1394131775 0.00001
NM_001267550.2(TTN):c.106279C>T (p.Gln35427Ter) rs1285334952 0.00001
NM_001267550.2(TTN):c.106532-2A>C rs753610150 0.00001
NM_001267550.2(TTN):c.107219dup (p.Pro35741fs) rs1427595954 0.00001
NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter) rs1477669354 0.00001
NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter) rs770579313 0.00001
NM_001267550.2(TTN):c.21961G>A (p.Glu7321Lys) rs2078691261 0.00001
NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter) rs764687326 0.00001
NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter) rs1340940049 0.00001
NM_001267550.2(TTN):c.2371-1G>A rs755365744 0.00001
NM_001267550.2(TTN):c.28739C>A (p.Ser9580Ter) rs375212459 0.00001
NM_001267550.2(TTN):c.30223+1G>A rs556408709 0.00001
NM_001267550.2(TTN):c.32011+1G>T rs1471534246 0.00001
NM_001267550.2(TTN):c.32392+1G>A rs1424314036 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_001267550.2(TTN):c.32555-1G>A rs932486601 0.00001
NM_001267550.2(TTN):c.33910+1G>T rs893407745 0.00001
NM_001267550.2(TTN):c.34612+1G>A rs577363824 0.00001
NM_001267550.2(TTN):c.34837G>T (p.Glu11613Ter) rs766945794 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.36448+2T>C rs1426178024 0.00001
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter) rs767120669 0.00001
NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter) rs794729258 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs) rs794729319 0.00001
NM_001267550.2(TTN):c.48160+1G>C rs779498825 0.00001
NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter) rs869312048 0.00001
NM_001267550.2(TTN):c.49346-2A>T rs794729263 0.00001
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter) rs1471414348 0.00001
NM_001267550.2(TTN):c.51986_51987del (p.Lys17329fs) rs1195974666 0.00001
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter) rs926741242 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.54418C>T (p.Arg18140Ter) rs747236787 0.00001
NM_001267550.2(TTN):c.55300C>T (p.Gln18434Ter) rs1284529298 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.56051-1G>A rs1385817640 0.00001
NM_001267550.2(TTN):c.56648-1G>A rs769912484 0.00001
NM_001267550.2(TTN):c.57127del (p.Glu19042_Val19043insTer) rs2052216955 0.00001
NM_001267550.2(TTN):c.57378G>A (p.Trp19126Ter) rs1192054216 0.00001
NM_001267550.2(TTN):c.57603C>A (p.Cys19201Ter) rs1418030810 0.00001
NM_001267550.2(TTN):c.57849del (p.Val19284fs) rs776385412 0.00001
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter) rs768073446 0.00001
NM_001267550.2(TTN):c.58732+2T>C rs869312054 0.00001
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) rs1250461669 0.00001
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter) rs974671846 0.00001
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692 0.00001
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) rs878854324 0.00001
NM_001267550.2(TTN):c.62424del (p.Asp20808fs) rs1250302805 0.00001
NM_001267550.2(TTN):c.63370C>T (p.Gln21124Ter) rs1341948399 0.00001
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter) rs869312098 0.00001
NM_001267550.2(TTN):c.66160+2T>C rs753146898 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.67636+2T>C rs1575872984 0.00001
NM_001267550.2(TTN):c.68224+2T>C rs1321711553 0.00001
NM_001267550.2(TTN):c.68527+1G>C rs766984722 0.00001
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460 0.00001
NM_001267550.2(TTN):c.69420del (p.Gly23141fs) rs1330960948 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.77145dup (p.Ser25716fs) rs1205409465 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter) rs1419374180 0.00001
NM_001267550.2(TTN):c.79882C>T (p.Arg26628Ter) rs1373472758 0.00001
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) rs766840243 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs) rs794729351 0.00001
NM_001267550.2(TTN):c.84255C>A (p.Cys28085Ter) rs772842119 0.00001
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter) rs1060500525 0.00001
NM_001267550.2(TTN):c.86528T>G (p.Leu28843Ter) rs752378132 0.00001
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter) rs794729300 0.00001
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs) rs1064794472 0.00001
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter) rs1553539391 0.00001
NM_001267550.2(TTN):c.93139C>T (p.Arg31047Ter) rs1416323929 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 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_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter) rs761810492 0.00001
NM_001365999.1(SZT2):c.5396G>A (p.Trp1799Ter) rs1306143550 0.00001
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter) rs764896693 0.00001
NM_001365999.1(SZT2):c.654_655del (p.Asp220fs) rs756942804 0.00001
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter) rs1654854600 0.00001
NM_001365999.1(SZT2):c.9775C>T (p.Arg3259Ter) rs1005930319 0.00001
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs) rs770283117 0.00001
NM_001367561.1(DOCK7):c.5101C>T (p.Arg1701Ter) rs1419019482 0.00001
NM_001367561.1(DOCK7):c.819-1G>A rs763358033 0.00001
NM_001368882.1(COL13A1):c.709C>T (p.Arg237Ter) rs769673346 0.00001
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter) rs864321622 0.00001
NM_001378778.1(MPDZ):c.1972C>T (p.His658Tyr) rs368581522 0.00001
NM_001378778.1(MPDZ):c.4171C>T (p.Arg1391Ter) rs777752091 0.00001
NM_001378778.1(MPDZ):c.4906C>T (p.Arg1636Ter) rs797045095 0.00001
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys) rs746187785 0.00001
NM_001382.4(DPAGT1):c.643+2T>C rs774754436 0.00001
NM_001458.5(FLNC):c.4069G>A (p.Gly1357Arg) rs1218299104 0.00001
NM_001458.5(FLNC):c.4738-1G>A rs1808678197 0.00001
NM_001458.5(FLNC):c.5199+1G>T rs1465588989 0.00001
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser) rs778364096 0.00001
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610 0.00001
NM_001849.4(COL6A2):c.2809C>T (p.Arg937Trp) rs755352246 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg) rs779867653 0.00001
NM_001927.4(DES):c.1055T>C (p.Leu352Ser) rs775085773 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001927.4(DES):c.634C>T (p.Arg212Ter) rs781590560 0.00001
NM_001927.4(DES):c.854C>T (p.Ala285Val) rs1368507241 0.00001
NM_001927.4(DES):c.885G>A (p.Trp295Ter) rs146755676 0.00001
NM_001953.5(TYMP):c.1001T>G (p.Leu334Arg) rs1251044974 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter) rs2069504242 0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) rs1064792861 0.00001
NM_001953.5(TYMP):c.647C>T (p.Ala216Val) rs1064792855 0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) rs121913042 0.00001
NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly) rs565227443 0.00001
NM_001999.4(FBN2):c.3521G>A (p.Cys1174Tyr) rs1581226080 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_002334.4(LRP4):c.1184-1G>A rs1941502709 0.00001
NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys) rs765695793 0.00001
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp) rs1270099780 0.00001
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) rs1398692057 0.00001
NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln) rs779935967 0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) rs1293600145 0.00001
NM_002454.3(MTRR):c.401+1G>A rs1400065323 0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter) rs1353165398 0.00001
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr) rs121913623 0.00001
NM_002693.3(POLG):c.3104+2T>A rs747632869 0.00001
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln) rs748972748 0.00001
NM_003322.6(TULP1):c.1522C>T (p.Arg508Cys) rs751036771 0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117 0.00001
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) rs373519519 0.00001
NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile) rs1582940678 0.00001
NM_004044.7(ATIC):c.1085A>G (p.Tyr362Cys) rs755898039 0.00001
NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp) rs146232504 0.00001
NM_004369.4(COL6A3):c.1897+1G>T rs1230578718 0.00001
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724 0.00001
NM_004369.4(COL6A3):c.6853G>A (p.Gly2285Arg) rs1268762655 0.00001
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter) rs1304140510 0.00001
NM_004370.6(COL12A1):c.4418-1G>A rs984784417 0.00001
NM_004370.6(COL12A1):c.5230+1G>A rs1274606112 0.00001
NM_004727.3(SLC24A1):c.2884-1G>C rs766014688 0.00001
NM_004744.5(LRAT):c.149T>G (p.Val50Gly) rs1384466058 0.00001
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly) rs527236079 0.00001
NM_004744.5(LRAT):c.299G>A (p.Gly100Asp) rs1396648864 0.00001
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) rs768255532 0.00001
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His) rs1023010218 0.00001
NM_005045.4(RELN):c.3912+2T>G rs1226957030 0.00001
NM_005045.4(RELN):c.7349+2T>C rs982831716 0.00001
NM_005055.5(RAPSN):c.1070dup (p.Glu358fs) rs1475015182 0.00001
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys) rs767507908 0.00001
NM_005055.5(RAPSN):c.531+1G>T rs1421354085 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln) rs2092288110 0.00001
NM_005149.3(TBX19):c.206G>A (p.Arg69Gln) rs1310982370 0.00001
NM_005149.3(TBX19):c.608C>T (p.Thr203Met) rs748717639 0.00001
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys) rs200919604 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser) rs551423795 0.00001
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg) rs1471479119 0.00001
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) rs545086633 0.00001
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) rs763539350 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro) rs121434297 0.00001
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00001
NM_005993.5(TBCD):c.1224-2A>G rs1161413517 0.00001
NM_005993.5(TBCD):c.1340C>T (p.Ala447Val) rs1311737177 0.00001
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys) rs181969865 0.00001
NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu) rs760635077 0.00001
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser) rs772606107 0.00001
NM_005993.5(TBCD):c.907C>T (p.Arg303Ter) rs751190601 0.00001
NM_006063.3(KLHL41):c.667C>T (p.Arg223Cys) rs754460870 0.00001
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_006261.5(PROP1):c.110-2A>G rs1057516846 0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) rs766673446 0.00001
NM_006565.4(CTCF):c.1168G>A (p.Asp390Asn) rs750256116 0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568 0.00001
NM_006623.4(PHGDH):c.357-1G>A rs766427173 0.00001
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) rs764260054 0.00001
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser) rs267606970 0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.1253+1G>A rs1475161693 0.00001
NM_013382.7(POMT2):c.1433A>G (p.His478Arg) rs765346043 0.00001
NM_013382.7(POMT2):c.1485-2_1485-1del rs1185491348 0.00001
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp) rs372939905 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_013382.7(POMT2):c.248+1G>C rs961440747 0.00001
NM_013382.7(POMT2):c.248+2T>C rs1326631351 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_013382.7(POMT2):c.311A>T (p.Asp104Val) rs1891449262 0.00001
NM_014254.3(RXYLT1):c.325+1G>T rs1592838547 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.465+1G>A rs887335730 0.00001
NM_014846.4(WASHC5):c.2505-1G>C rs953586472 0.00001
NM_015107.3(PHF8):c.1731-2A>G rs1437750762 0.00001
NM_015338.6(ASXL1):c.1015C>T (p.Gln339Ter) rs2011567269 0.00001
NM_015338.6(ASXL1):c.643G>A (p.Ala215Thr) rs2011469389 0.00001
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter) rs397514487 0.00001
NM_016023.5(OTUD6B):c.839C>T (p.Ser280Leu) rs1391158579 0.00001
NM_016111.4(TELO2):c.682+1G>A rs779227414 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_017739.4(POMGNT1):c.1110+1G>A rs1657940058 0.00001
NM_017739.4(POMGNT1):c.1152+2T>C rs1553163335 0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) rs150877512 0.00001
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014 0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter) rs745343484 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_017739.4(POMGNT1):c.1605-1G>C rs770219373 0.00001
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018 0.00001
NM_017739.4(POMGNT1):c.1813C>T (p.Arg605Cys) rs886044567 0.00001
NM_017739.4(POMGNT1):c.236-1G>T rs1057516477 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 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_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_017934.7(PHIP):c.2368C>T (p.Gln790Ter) rs1582175173 0.00001
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter) rs200788163 0.00001
NM_017934.7(PHIP):c.4447C>T (p.Arg1483Ter) rs1304822359 0.00001
NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter) rs2077134911 0.00001
NM_018418.5(SPATA7):c.20-1G>A rs554224437 0.00001
NM_019023.5(PRMT7):c.1220G>A (p.Cys407Tyr) rs1313637057 0.00001
NM_019023.5(PRMT7):c.1323+2T>G rs1339009950 0.00001
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter) rs372375423 0.00001
NM_019066.5(MAGEL2):c.3559C>T (p.Arg1187Ter) rs368965952 0.00001
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568 0.00001
NM_020320.5(RARS2):c.1650+5G>A rs750433723 0.00001
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) rs1258569046 0.00001
NM_020366.4(RPGRIP1):c.1467+1G>A rs1167313603 0.00001
NM_020366.4(RPGRIP1):c.2988del (p.Glu996fs) rs765001696 0.00001
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln) rs758239674 0.00001
NM_020366.4(RPGRIP1):c.86-1G>A rs200968268 0.00001
NM_020366.4(RPGRIP1):c.931-2A>G rs374188857 0.00001
NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter) rs794727976 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.1501-1G>A rs750138587 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.1510C>T (p.Arg504Ter) rs371470622 0.00001
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu) rs121912817 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.243G>A (p.Trp81Ter) rs1384661323 0.00001
NM_020549.5(CHAT):c.841C>T (p.Arg281Trp) rs747108035 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_021971.4(GMPPB):c.91A>G (p.Lys31Glu) rs764625823 0.00001
NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys) rs780867515 0.00001
NM_022167.4(XYLT2):c.2548G>A (p.Asp850Asn) rs1423415130 0.00001
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys) rs780424781 0.00001
NM_022787.4(NMNAT1):c.-72G>A rs1475372376 0.00001
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) rs768528387 0.00001
NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro) rs1570715470 0.00001
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr) rs1553128102 0.00001
NM_022787.4(NMNAT1):c.532G>A (p.Val178Met) rs757724544 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys) rs748913297 0.00001
NM_022787.4(NMNAT1):c.547C>T (p.Leu183Phe) rs1337014971 0.00001
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs) rs775978677 0.00001
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys) rs375110174 0.00001
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys) rs751676482 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.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261 0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692 0.00001
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys) rs104894679 0.00001
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) rs28937901 0.00001
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) rs752582904 0.00001
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936 0.00001
NM_025099.6(CTC1):c.1818+1G>A rs773716148 0.00001
NM_025099.6(CTC1):c.2386-1G>A rs199861310 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_032237.5(POMK):c.907C>T (p.Arg303Ter) rs528307346 0.00001
NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly) rs1424699115 0.00001
NM_033163.5(FGF8):c.398C>T (p.Thr133Met) rs61730334 0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_052867.4(NALCN):c.2579+5G>A rs2035187622 0.00001
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys) rs1351749039 0.00001
NM_058179.4(PSAT1):c.976G>T (p.Glu326Ter) rs199998249 0.00001
NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter) rs774934005 0.00001
NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter) rs758615834 0.00001
NM_133259.4(LRPPRC):c.244C>T (p.Gln82Ter) rs754855090 0.00001
NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter) rs1453934366 0.00001
NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter) rs1166980943 0.00001
NM_133259.4(LRPPRC):c.4128+1G>A rs1475772376 0.00001
NM_133259.4(LRPPRC):c.650+1G>C rs1249427615 0.00001
NM_139343.3(BIN1):c.1461+1G>A rs764951306 0.00001
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) rs777176261 0.00001
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter) rs143481438 0.00001
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NM_152393.4(KLHL40):c.100G>C (p.Asp34His) rs778565563 0.00001
NM_152393.4(KLHL40):c.1421+1G>T rs1186218257 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.226G>C (p.Gly76Arg) rs368489658 0.00001
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile) rs1206574200 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys) rs1163040913 0.00001
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) rs745871149 0.00001
NM_152443.3(RDH12):c.671C>T (p.Thr224Ile) rs200302290 0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313 0.00001
NM_152490.5(B3GALNT2):c.1311+1G>C rs1379052702 0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072 0.00001
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274 0.00001
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074 0.00001
NM_152490.5(B3GALNT2):c.842-1G>A rs764784497 0.00001
NM_152564.5(VPS13B):c.10061+1G>A rs1200459145 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.10867+1G>A rs780902262 0.00001
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs) rs386834059 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.147+1G>A rs1057517029 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2824+2T>C rs141703746 0.00001
NM_152564.5(VPS13B):c.3082+2T>C rs1188811827 0.00001
NM_152564.5(VPS13B):c.3083-2A>C rs1456528242 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.4746-1G>C rs768342041 0.00001
NM_152564.5(VPS13B):c.4949+2T>C rs761273297 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.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.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 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.7780-2A>C rs1378196300 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152564.5(VPS13B):c.8097+1G>A rs1813590716 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_152564.5(VPS13B):c.8792+1G>T rs1415714103 0.00001
NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg) rs750033880 0.00001
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp) rs754476100 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_153033.5(KCTD7):c.456G>A (p.Val152=) rs796052686 0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val) rs368001837 0.00001
NM_153033.5(KCTD7):c.541C>T (p.Arg181Trp) rs750770298 0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) rs387907246 0.00001
NM_153033.5(KCTD7):c.551G>A (p.Arg184His) rs747676224 0.00001
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602 0.00001
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter) rs1171657935 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_173660.5(DOK7):c.436C>T (p.Pro146Ser) rs1727094027 0.00001
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg) rs137852211 0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736 0.00001
NM_198576.4(AGRN):c.3250+1G>A rs759853904 0.00001
NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter) rs1274380766 0.00001
NM_198721.4(COL25A1):c.672+1G>A rs759316372 0.00001
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) rs769909288 0.00001
NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp) rs768905244 0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 0.00001
NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys) rs1180527322 0.00001
NM_201253.3(CRB1):c.2128G>A (p.Glu710Lys) rs62645755 0.00001
NM_201253.3(CRB1):c.2159A>T (p.Asp720Val) rs766989894 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.2555T>C (p.Ile852Thr) rs62636271 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) rs62636276 0.00001
NM_201253.3(CRB1):c.3493T>C (p.Cys1165Arg) rs767368951 0.00001
NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser) rs1031415706 0.00001
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp) rs1665481687 0.00001
NM_201253.3(CRB1):c.3958C>T (p.Gln1320Ter) rs1246546027 0.00001
NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr) rs752559648 0.00001
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg) rs1658691162 0.00001
NM_201253.3(CRB1):c.716G>C (p.Cys239Ser) rs771079655 0.00001
NM_201253.3(CRB1):c.849-2A>G rs988534225 0.00001
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg) rs778232235 0.00001
NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro) rs587783654 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.768G>C (p.Glu256Asp) rs532188689 0.00001
GRCh37/hg19 11p11.2(chr11:47459526-47460482)
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
GRCh37/hg19 19q13.2(chr19:38987608-38993136)
GRCh37/hg19 2q31.2(chr2:179403525-179655493)
GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1
GRCh37/hg19 8q22.2(chr8:99096530-99142877)x4
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3
GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1
GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1
GRCh38/hg38 7q31.1(chr7:107951205-107952243)x0
NC_000001.10:g.(68896860_68896964)_(68897269_68903869)del
NC_000001.10:g.(?_197297542)_(197298143_?)del
NC_000001.10:g.(?_197313391)_(197411442_?)dup
NC_000001.10:g.(?_197325941)_(197326163_?)del
NC_000001.10:g.(?_197325951)_(197326153_?)del
NC_000001.10:g.(?_197446965)_(197449864_?)del
NC_000001.10:g.(?_235543365)_(235922919_?)del
NC_000001.10:g.(?_235634154)_(235647841_?)dup
NC_000001.10:g.(?_235850229)_(235860592_?)del
NC_000001.10:g.(?_235950490)_(235964407_?)dup
NC_000001.10:g.(?_46656135)_(46656466_?)dup
NC_000001.10:g.85569702_85585573del
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
NC_000002.11:g.(?_152348187)_(152425896_?)dup
NC_000002.11:g.(?_152506680)_(152507409_?)del
NC_000002.11:g.(?_152541945)_(152544191_?)del
NC_000002.11:g.(?_179296824)_(179518254_?)del
NC_000002.11:g.(?_179405446)_(179408110_?)del
NC_000002.11:g.(?_179407899)_(179439276_?)del
NC_000002.11:g.(?_179419384)_(179419787_?)dup
NC_000002.11:g.(?_179419793)_(179515001_?)del
NC_000002.11:g.(?_179425803)_(179544953_?)del
NC_000002.11:g.(?_179425856)_(179596206_?)del
NC_000002.11:g.(?_179426336)_(179569921_?)del
NC_000002.11:g.(?_179443318)_(179669369_?)del
NC_000002.11:g.(?_220284797)_(220284897_?)dup
NC_000002.11:g.238258810delG rs794729205
NC_000002.12:g.(?_178528254)_(178544135_?)del
NC_000002.12:g.(?_237362747)_(237372158_?)del
NC_000002.12:g.(?_69363535)_(69363680_?)del
NC_000003.11:g.(41241162_41265511)_(41268844_41274831)del
NC_000003.11:g.(?_167422610)_(167422703_?)del
NC_000003.12:g.(?_167687214)_(167695742_?)dup
NC_000003.12:g.87310484C>T rs606231411
NC_000005.10:g.(?_128300797)_(128303109_?)del
NC_000005.10:g.(?_128318149)_(128319001_?)del
NC_000005.9:g.(?_127666245)_(127668746_?)del
NC_000005.9:g.154735732_155604899dup
NC_000005.9:g.155599390_155755985dup
NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
NC_000007.13:g.(?_128475370)_(128478867_?)del
NC_000007.13:g.(?_128480199)_(128481774_?)del
NC_000007.13:g.(?_16415707)_(16415876_?)del
NC_000007.13:g.(?_16445666)_(16445982_?)dup
NC_000007.13:g.(?_66098242)_(66098451_?)dup
NC_000007.13:g.(?_91851196)_(91852312_?)del
NC_000007.13:g.(?_91864697)_(91867093_?)dup
NC_000007.14:g.(?_103589576)_(103610827_?)dup
NC_000007.14:g.(?_16216046)_(16216217_?)del
NC_000007.14:g.(?_16258380)_(16259022_?)del
NC_000007.14:g.(?_16376072)_(16376261_?)del
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
NC_000008.10:g.(?_100108520)_(100205305_?)dup
NC_000008.10:g.(?_100108530)_(100182401_?)dup
NC_000008.10:g.(?_100123306)_(100133735_?)dup
NC_000008.10:g.(?_100157931)_(100160219_?)del
NC_000008.10:g.(?_100205094)_(100205295_?)dup
NC_000008.10:g.(?_100205094)_(100287492_?)dup
NC_000008.10:g.(?_100396426)_(100479872_?)dup
NC_000008.10:g.(?_100443755)_(100443902_?)dup
NC_000008.10:g.(?_100568668)_(100673729_?)dup
NC_000008.10:g.(?_100654029)_(100654736_?)dup
NC_000008.10:g.(?_100711743)_(100712170_?)del
NC_000008.10:g.(?_100778144)_(100779154_?)del
NC_000008.10:g.(?_100821583)_(100821778_?)del
NC_000008.10:g.(?_100821603)_(100821758_?)del
NC_000008.10:g.(?_100882993)_(100883945_?)dup
NC_000008.10:g.(?_126079753)_(126096155_?)del
NC_000008.11:g.(?_99134631)_(99511512_?)dup
NC_000008.11:g.(?_99192876)_(99209768_?)dup
NC_000008.11:g.(?_99209582)_(99275264_?)del
NC_000009.11:g.(?_108377539)_(108377708_?)dup
NC_000009.11:g.(?_113431213)_(113441760_?)del
NC_000009.11:g.(?_113457663)_(113524508_?)dup
NC_000009.11:g.(?_113496521)_(113524498_?)dup
NC_000009.11:g.(?_134389752)_(134390863_?)del
NC_000009.11:g.(?_80919631)_(80923519_?)del
NC_000012.11:g.110950633C>G
NC_000014.8:g.(?_21769105)_(21794352_?)dup
NC_000014.8:g.(?_21798388)_(21798566_?)dup
NC_000014.8:g.(?_21819243)_(21819375_?)del
NC_000014.8:g.(?_68195898)_(68200575_?)del
NC_000014.9:g.(?_21317696)_(21330387_?)dup
NC_000014.9:g.(?_21320017)_(21334705_?)dup
NC_000014.9:g.23415255_23415272del rs2138638795
NC_000016.10:g.(?_3744874)_(3758992_?)del
NC_000016.9:g.(?_3786017)_(3786836_?)dup
NC_000016.9:g.(?_3786631)_(3790570_?)dup
NC_000016.9:g.(?_3829526)_(3830870_?)del
NC_000017.11:g.(?_2638238)_(2638345_?)del
NC_000017.11:g.(?_2680139)_(2681852_?)del
NC_000021.8:g.(?_38868400)_(38884854_?)del
NC_000021.8:g.(?_47407419)_(47408291_?)del
NC_000021.8:g.(?_47542769)_(47546475_?)dup
NC_000021.8:g.(?_47545206)_(47546374_?)del
NC_000021.9:g.(?_37492997)_(37493183_?)del
NC_000023.10:g.(152882907_152991027)del
NC_000023.10:g.(152886255_152976269)del
NC_000023.11:g.153694345del rs1603217468
NC_000023.11:g.41506506_41542250del
NM_000061.3(BTK):c.1076T>C (p.Ile359Thr)
NM_000061.3(BTK):c.1300_1909-813del
NM_000061.3(BTK):c.134_139del (p.Glu45_Arg46del) rs1927166327
NM_000061.3(BTK):c.1361A>C (p.His454Pro)
NM_000061.3(BTK):c.1361A>G (p.His454Arg)
NM_000061.3(BTK):c.1361A>T (p.His454Leu)
NM_000061.3(BTK):c.141+1G>C
NM_000061.3(BTK):c.1513G>T (p.Val505Phe) rs1603004514
NM_000061.3(BTK):c.1558C>G (p.Arg520Gly) rs128621201
NM_000061.3(BTK):c.1563C>G (p.Asp521Glu) rs2147427209
NM_000061.3(BTK):c.1567-117_1604del rs2147425786
NM_000061.3(BTK):c.1631+5G>C rs1926404279
NM_000061.3(BTK):c.1632G>T (p.Arg544Ser)
NM_000061.3(BTK):c.167T>C (p.Ile56Thr) rs1927146374
NM_000061.3(BTK):c.1694C>T (p.Pro565Leu)
NM_000061.3(BTK):c.1696C>T (p.Pro566Ser) rs1603002421
NM_000061.3(BTK):c.1745C>T (p.Ala582Val)
NM_000061.3(BTK):c.1747T>G (p.Phe583Val) rs1926378381
NM_000061.3(BTK):c.1763G>T (p.Trp588Leu) rs1603001805
NM_000061.3(BTK):c.1793A>G (p.Tyr598Cys)
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) rs128621210
NM_000061.3(BTK):c.1901G>C (p.Trp634Ser) rs1926352588
NM_000061.3(BTK):c.1908+1G>T rs2147423955
NM_000061.3(BTK):c.1908+2dup
NM_000061.3(BTK):c.1932C>G (p.Phe644Leu) rs1926219727
NM_000061.3(BTK):c.240+109C>A rs2147447393
NM_000061.3(BTK):c.305T>C (p.Phe102Ser) rs2147444867
NM_000061.3(BTK):c.455A>G (p.Tyr152Cys)
NM_000061.3(BTK):c.460T>G (p.Cys154Gly)
NM_000061.3(BTK):c.494G>A (p.Cys165Tyr)
NM_000061.3(BTK):c.839+1G>C rs1569292649
NM_000061.3(BTK):c.840-1G>A rs193922131
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.3(BTK):c.884T>C (p.Leu295Pro) rs1926588125
NM_000061.3(BTK):c.974+5G>C rs2147430161
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs) rs1064793397
NM_000080.4(CHRNE):c.1032+1G>A rs1458613529
NM_000080.4(CHRNE):c.1033-2del
NM_000080.4(CHRNE):c.1050_1065dup (p.Ser356fs)
NM_000080.4(CHRNE):c.1052C>G (p.Pro351Arg)
NM_000080.4(CHRNE):c.1086_1111dup (p.Arg371fs)
NM_000080.4(CHRNE):c.1096_1103dup (p.Arg371fs)
NM_000080.4(CHRNE):c.1108del (p.Arg370fs) rs1969856640
NM_000080.4(CHRNE):c.1144G>T (p.Glu382Ter)
NM_000080.4(CHRNE):c.115dup (p.Ser39fs) rs977512223
NM_000080.4(CHRNE):c.1162_1163del (p.Lys388fs)
NM_000080.4(CHRNE):c.1203del (p.Gln402fs) rs1429181185
NM_000080.4(CHRNE):c.1216_1219+19del rs760623071
NM_000080.4(CHRNE):c.1220-1G>C rs373710822
NM_000080.4(CHRNE):c.1220-2A>C
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.1220-6_1227del rs1567635954
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs) rs769945146
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup) rs1969834618
NM_000080.4(CHRNE):c.1309C>T (p.Gln437Ter)
NM_000080.4(CHRNE):c.1326+1G>A rs1430654625
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter) rs918839874
NM_000080.4(CHRNE):c.1371del (p.Cys458fs) rs1597612665
NM_000080.4(CHRNE):c.1388T>G (p.Leu463Arg)
NM_000080.4(CHRNE):c.1429del (p.Ala477fs) rs1396286715
NM_000080.4(CHRNE):c.1457C>T (p.Pro486Leu) rs1969817843
NM_000080.4(CHRNE):c.189+1G>A
NM_000080.4(CHRNE):c.190-2A>G
NM_000080.4(CHRNE):c.209_210del (p.Leu70fs)
NM_000080.4(CHRNE):c.219dup (p.Val74fs)
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
NM_000080.4(CHRNE):c.235-2A>G rs1597622118
NM_000080.4(CHRNE):c.281del (p.Gly94fs)
NM_000080.4(CHRNE):c.342dup (p.Asn115fs)
NM_000080.4(CHRNE):c.345-1G>A
NM_000080.4(CHRNE):c.345-2A>G
NM_000080.4(CHRNE):c.345-2A>T rs2151098412
NM_000080.4(CHRNE):c.346dup (p.Ile116fs)
NM_000080.4(CHRNE):c.3G>A (p.Met1Ile) rs1970039895
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr) rs483353045
NM_000080.4(CHRNE):c.421C>G (p.Pro141Ala) rs483353045
NM_000080.4(CHRNE):c.432C>A (p.Tyr144Ter)
NM_000080.4(CHRNE):c.443G>A (p.Cys148Tyr)
NM_000080.4(CHRNE):c.452_454del (p.Glu151del) rs2151098283
NM_000080.4(CHRNE):c.46+1G>T rs746199600
NM_000080.4(CHRNE):c.47-1G>A
NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp) rs121909516
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.4(CHRNE):c.497T>G (p.Phe166Cys)
NM_000080.4(CHRNE):c.500+2T>C
NM_000080.4(CHRNE):c.501-10_504dup rs768552387
NM_000080.4(CHRNE):c.501-16G>A rs879255563
NM_000080.4(CHRNE):c.501-1G>C
NM_000080.4(CHRNE):c.529_531del (p.Glu177del) rs779816027
NM_000080.4(CHRNE):c.530_531insCCAC (p.Glu177fs)
NM_000080.4(CHRNE):c.535A>C (p.Thr179Pro)
NM_000080.4(CHRNE):c.583G>T (p.Asp195Tyr) rs774425374
NM_000080.4(CHRNE):c.601+1G>T
NM_000080.4(CHRNE):c.602-1G>A
NM_000080.4(CHRNE):c.605del (p.Asn202fs)
NM_000080.4(CHRNE):c.693del (p.Tyr232fs)
NM_000080.4(CHRNE):c.696C>A (p.Tyr232Ter)
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln) rs2151097307
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe) rs28999110
NM_000080.4(CHRNE):c.726del (p.Tyr243fs)
NM_000080.4(CHRNE):c.72del (p.Glu24fs)
NM_000080.4(CHRNE):c.764C>G (p.Ser255Trp)
NM_000080.4(CHRNE):c.786C>A (p.Tyr262Ter)
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.803-1G>T
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter) rs773929089
NM_000080.4(CHRNE):c.853G>A (p.Val285Ile)
NM_000080.4(CHRNE):c.855CTT[1] (p.Phe286del)
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
NM_000080.4(CHRNE):c.880dup (p.Ile294fs)
NM_000080.4(CHRNE):c.891_892insCTCTGGGATT (p.Ser298fs)
NM_000080.4(CHRNE):c.904C>G (p.Pro302Ala) rs979787967
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.905C>T (p.Pro302Leu) rs370019023
NM_000080.4(CHRNE):c.916A>T (p.Arg306Trp)
NM_000080.4(CHRNE):c.922del (p.Ile309fs)
NM_000080.4(CHRNE):c.929del (p.Phe310fs)
NM_000080.4(CHRNE):c.934_936del (p.Met312del) rs1555546465
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter) rs56377005
NM_000080.4(CHRNE):c.984_986delinsT (p.Ser329fs)
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.10095G>C (p.Lys3365Asn)
NM_000081.4(LYST):c.10100del (p.Lys3367fs)
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.10156del (p.Met3386fs)
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) rs754616030
NM_000081.4(LYST):c.10411dup (p.Glu3471fs)
NM_000081.4(LYST):c.10443_10454delinsCC (p.Val3482fs)
NM_000081.4(LYST):c.10489C>T (p.Gln3497Ter)
NM_000081.4(LYST):c.1050del (p.Asn352fs)
NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter)
NM_000081.4(LYST):c.10663_10691dup (p.Gln3564delinsHisLeuGlnTer)
NM_000081.4(LYST):c.10812del (p.Ile3604fs)
NM_000081.4(LYST):c.10813G>T (p.Glu3605Ter)
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
NM_000081.4(LYST):c.124del (p.Gly43fs)
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.2275del (p.Ser759fs)
NM_000081.4(LYST):c.2341_2342del (p.Leu781fs)
NM_000081.4(LYST):c.2437del (p.Arg813fs)
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.3170del (p.Lys1057fs)
NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter)
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3713-2A>C
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.4006+2T>C
NM_000081.4(LYST):c.4116+1G>A
NM_000081.4(LYST):c.4324_4325del (p.Ser1442fs)
NM_000081.4(LYST):c.4858C>T (p.Gln1620Ter)
NM_000081.4(LYST):c.4862+2T>A
NM_000081.4(LYST):c.4863-1G>C
NM_000081.4(LYST):c.4863-4G>T
NM_000081.4(LYST):c.4969G>T (p.Glu1657Ter)
NM_000081.4(LYST):c.5023+1G>A
NM_000081.4(LYST):c.5214+1G>C
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.5719A>G (p.Ile1907Val)
NM_000081.4(LYST):c.5772G>A (p.Trp1924Ter)
NM_000081.4(LYST):c.5923-1G>A
NM_000081.4(LYST):c.5923-2A>G
NM_000081.4(LYST):c.6050T>G (p.Leu2017Ter)
NM_000081.4(LYST):c.6254-1G>C
NM_000081.4(LYST):c.6616C>T (p.Gln2206Ter)
NM_000081.4(LYST):c.6720_6721del (p.His2240fs)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.6882-1G>T
NM_000081.4(LYST):c.7010T>A (p.Leu2337Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.7136T>C (p.Leu2379Pro)
NM_000081.4(LYST):c.7460+2T>A
NM_000081.4(LYST):c.7460+3_7460+6del
NM_000081.4(LYST):c.7461-1G>A
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
NM_000081.4(LYST):c.7781-1G>T
NM_000081.4(LYST):c.8358+1G>C
NM_000081.4(LYST):c.8358+2T>C
NM_000081.4(LYST):c.8358+2T>G
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.8768G>A (p.Trp2923Ter)
NM_000081.4(LYST):c.8801+1G>A
NM_000081.4(LYST):c.8802-2A>G
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
NM_000081.4(LYST):c.9044+1G>A
NM_000081.4(LYST):c.9200G>A (p.Trp3067Ter)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
NM_000081.4(LYST):c.9475del (p.Asp3159fs)
NM_000081.4(LYST):c.9620_9621dup (p.Tyr3208fs)
NM_000081.4(LYST):c.9624C>A (p.Tyr3208Ter)
NM_000081.4(LYST):c.9627+1G>A
NM_000081.4(LYST):c.9784+1G>T
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
NM_000081.4(LYST):c.98_105del (p.Glu33fs)
NM_000081.4(LYST):c.9925+1G>T
NM_000081.4(LYST):c.9925+2T>C
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser) rs1057519320
NM_000153.4(GALC):c.196G>A (p.Ala66Thr) rs1057518843
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1012del (p.Leu338fs)
NM_000180.4(GUCY2D):c.1026+2T>C
NM_000180.4(GUCY2D):c.1040_1041del (p.Phe347fs) rs763890649
NM_000180.4(GUCY2D):c.1211T>C (p.Leu404Pro) rs1975743813
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1391del (p.Gly464fs) rs1567958644
NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) rs1598146589
NM_000180.4(GUCY2D):c.144del (p.Ala49fs) rs1567956946
NM_000180.4(GUCY2D):c.1567-1G>C rs2151801050
NM_000180.4(GUCY2D):c.1749+1G>A rs2151801563
NM_000180.4(GUCY2D):c.1750-12_1752del
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp) rs1975862803
NM_000180.4(GUCY2D):c.1924T>G (p.Phe642Val) rs1975868246
NM_000180.4(GUCY2D):c.1937T>C (p.Leu646Pro) rs1975868606
NM_000180.4(GUCY2D):c.1943T>C (p.Leu648Pro) rs1975868797
NM_000180.4(GUCY2D):c.1956+2T>A rs61749758
NM_000180.4(GUCY2D):c.2006C>G (p.Ser669Ter) rs2151802518
NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val) rs781725943
NM_000180.4(GUCY2D):c.2135A>T (p.Glu712Val) rs2151802780
NM_000180.4(GUCY2D):c.218C>T (p.Pro73Leu) rs750153057
NM_000180.4(GUCY2D):c.2210AAG[1] (p.Glu738del)
NM_000180.4(GUCY2D):c.2234del (p.Pro745fs) rs1598149659
NM_000180.4(GUCY2D):c.2263+1G>A
NM_000180.4(GUCY2D):c.2264-1G>A
NM_000180.4(GUCY2D):c.2338T>C (p.Cys780Arg) rs1975909279
NM_000180.4(GUCY2D):c.2393T>G (p.Met798Arg) rs1975911358
NM_000180.4(GUCY2D):c.2412+2T>C rs2151803131
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro) rs962715477
NM_000180.4(GUCY2D):c.2545A>G (p.Thr849Ala) rs2151803362
NM_000180.4(GUCY2D):c.2576+1G>A
NM_000180.4(GUCY2D):c.2577-2A>G
NM_000180.4(GUCY2D):c.2627T>C (p.Phe876Ser) rs762981013
NM_000180.4(GUCY2D):c.2660T>G (p.Val887Gly) rs573270795
NM_000180.4(GUCY2D):c.2769+1G>A
NM_000180.4(GUCY2D):c.2770-34_2925del
NM_000180.4(GUCY2D):c.2783G>C (p.Gly928Ala) rs1975943992
NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro) rs61750179
NM_000180.4(GUCY2D):c.2836G>A (p.Ala946Thr) rs1975945845
NM_000180.4(GUCY2D):c.2836G>T (p.Ala946Ser) rs1975945845
NM_000180.4(GUCY2D):c.2848G>A (p.Ala950Thr) rs1306952187
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val) rs61750181
NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg) rs2151803661
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2939A>T (p.His980Leu) rs764954235
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000180.4(GUCY2D):c.3020C>T (p.Ser1007Leu)
NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu) rs61750188
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg) rs868612148
NM_000180.4(GUCY2D):c.3043+4A>T rs61750189
NM_000180.4(GUCY2D):c.3043+5G>A rs751822337
NM_000180.4(GUCY2D):c.3056A>C (p.His1019Pro) rs1429807175
NM_000180.4(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034fs) rs1555635925
NM_000180.4(GUCY2D):c.3163T>G (p.Trp1055Gly) rs1975971228
NM_000180.4(GUCY2D):c.3224+3G>T rs1258995063
NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys) rs63340060
NM_000180.4(GUCY2D):c.52_99dup (p.Gly18_Leu33dup) rs63749076
NM_000180.4(GUCY2D):c.571dup (p.Gln191fs)
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly) rs1975686657
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_000180.4(GUCY2D):c.826del (p.Leu276fs) rs2151799674
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn) rs1478566225
NM_000180.4(GUCY2D):c.929C>A (p.Thr310Asn) rs1975693830
NM_000180.4(GUCY2D):c.[1978C>T];[3038G>A]
NM_000180.4(GUCY2D):c.[1991A>C];[2649del]
NM_000180.4(GUCY2D):c.[1991A>C];[2984G>A]
NM_000180.4(GUCY2D):c.[2649del];[3038G>A]
NM_000180.4(GUCY2D):c.[2818C>T];[3038G>A]
NM_000180.4(GUCY2D):c.[2984G>A];[3044-1G>C]
NM_000193.4(SHH):c.-3226_301-2327del
NM_000193.4(SHH):c.1037C>T (p.Ala346Val) rs2117126655
NM_000193.4(SHH):c.143del (p.Ile48fs) rs1554495331
NM_000193.4(SHH):c.300+2T>C rs1584805934
NM_000193.4(SHH):c.424G>A (p.Glu142Lys)
NM_000193.4(SHH):c.431G>A (p.Arg144His)
NM_000193.4(SHH):c.596_604del (p.Phe199_Gly201del) rs2117128881
NM_000193.4(SHH):c.796C>T (p.Leu266Phe) rs1420292012
NM_000193.4(SHH):c.812T>C (p.Leu271Pro)
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) rs727504753
NM_000257.4(MYH7):c.1370T>G (p.Ile457Arg) rs397516103
NM_000257.4(MYH7):c.1495GAG[1] (p.Glu500del) rs1555338254
NM_000257.4(MYH7):c.1544T>C (p.Met515Thr) rs863224900
NM_000257.4(MYH7):c.1888C>A (p.Pro630Thr) rs397516124
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser) rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg) rs1247313340
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.3119A>G (p.Gln1040Arg)
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.5158-16C>G
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.5560-2A>C rs1566521710
NM_000257.4(MYH7):c.5655+1G>A
NM_000257.4(MYH7):c.5655+1G>C rs1892079951
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.732+1del rs397516266
NM_000264.5(PTCH1):c.1503+3A>G rs878853846
NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs) rs1588574984
NM_000264.5(PTCH1):c.2834delinsAGATGTTGTGGACCC (p.Arg945fs) rs1554691658
NM_000264.5(PTCH1):c.456_457del (p.Met152fs) rs1588622713
NM_000266.4(NDP):c.109C>T (p.Arg37Ter) rs398123283
NM_000266.4(NDP):c.131_132del (p.Tyr44fs)
NM_000266.4(NDP):c.155T>A (p.Leu52Ter) rs886043097
NM_000266.4(NDP):c.242T>C (p.Phe81Ser) rs2147204801
NM_000266.4(NDP):c.268C>T (p.Arg90Cys) rs1057518793
NM_000266.4(NDP):c.307C>G (p.Leu103Val)
NM_000266.4(NDP):c.314C>T (p.Ala105Val) rs1057518836
NM_000266.4(NDP):c.355A>C (p.Thr119Pro) rs2147204677
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) rs104894878
NM_000273.3(GPR143):c.12_36del (p.Leu6fs) rs1057518787
NM_000273.3(GPR143):c.349del (p.Val117fs)
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.584A>G (p.His195Arg) rs1596489887
NM_000306.4(POU1F1):c.215-3C>G rs754584667
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro) rs1559614730
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) rs104893765
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) rs772390221
NM_000306.4(POU1F1):c.662T>C (p.Ile221Thr) rs2106927025
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val) rs1571164534
NM_000329.3(RPE65):c.1004_1005del (p.Glu335fs)
NM_000329.3(RPE65):c.1040G>A (p.Arg347His) rs562037932
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.119G>A (p.Gly40Asp)
NM_000329.3(RPE65):c.12-1G>C rs1348031618
NM_000329.3(RPE65):c.12-2A>T
NM_000329.3(RPE65):c.1243+1G>A rs1421696563
NM_000329.3(RPE65):c.1243+1G>C
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr) rs1571158755
NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) rs34627040
NM_000329.3(RPE65):c.1339-1G>C
NM_000329.3(RPE65):c.1339-2A>G
NM_000329.3(RPE65):c.1345A>T (p.Lys449Ter)
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) rs1645823028
NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr) rs1395763356
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs) rs2100806889
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu) rs774211361
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) rs62637007
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del) rs1557595745
NM_000329.3(RPE65):c.1451-2A>C rs1557595199
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) rs1193631220
NM_000329.3(RPE65):c.186_191del (p.Asp62_Gln64delinsGlu) rs1645945582
NM_000329.3(RPE65):c.187G>C (p.Gly63Arg) rs1645945643
NM_000329.3(RPE65):c.202C>T (p.His68Tyr) rs61752866
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) rs1553153597
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro) rs61752873
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
NM_000329.3(RPE65):c.311G>T (p.Gly104Val) rs61752875
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn) rs1260914084
NM_000329.3(RPE65):c.353+1G>A
NM_000329.3(RPE65):c.354-1G>A rs2100827985
NM_000329.3(RPE65):c.354-1G>T rs2100827985
NM_000329.3(RPE65):c.354-2del rs2100827990
NM_000329.3(RPE65):c.36C>G (p.Tyr12Ter)
NM_000329.3(RPE65):c.407T>G (p.Val136Gly) rs1645928251
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp) rs61752882
NM_000329.3(RPE65):c.496-1G>A rs2100821984
NM_000329.3(RPE65):c.544C>A (p.His182Asn) rs61752884
NM_000329.3(RPE65):c.549del (p.Ile183fs)
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) rs1553153243
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp) rs1189903735
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter) rs777966849
NM_000329.3(RPE65):c.643+2T>A rs1645896934
NM_000329.3(RPE65):c.644-2A>G
NM_000329.3(RPE65):c.672_673del (p.Glu224fs)
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.725+1G>A rs1260969698
NM_000329.3(RPE65):c.770T>G (p.Val257Gly) rs1645883131
NM_000329.3(RPE65):c.842_843del (p.Glu280_Ser281insTer)
NM_000329.3(RPE65):c.858+1dup
NM_000329.3(RPE65):c.859-1G>A
NM_000329.3(RPE65):c.859-2A>C
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) rs281865289
NM_000329.3(RPE65):c.886del (p.Arg296fs) rs746127684
NM_000329.3(RPE65):c.90delinsGAGCTC (p.Thr31fs)
NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter) rs2100818575
NM_000329.3(RPE65):c.914G>T (p.Arg305Ile) rs1645880293
NM_000329.3(RPE65):c.923C>T (p.Pro308Leu) rs1645880232
NM_000329.3(RPE65):c.93A>G (p.Thr31=) rs2100834154
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_000329.3(RPE65):c.[1067dup];[1543C>T]
NM_000330.4(RS1):c.185-3090C>T rs1569231336
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys) rs1181083611
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
NM_000334.4(SCN4A):c.435C>A (p.Cys145Ter)
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000426.3(LAMA2):c.6993_7155del163 (p.Ser2331Argfs) rs1554301637
NM_000426.3(LAMA2):c.[7691T>C];[9253C>T]
NM_000426.4(LAMA2):c.1011del (p.Thr339fs)
NM_000426.4(LAMA2):c.1027+1G>T rs1064797327
NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter) rs1778991422
NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter) rs1436470033
NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter) rs1360796756
NM_000426.4(LAMA2):c.1097T>A (p.Leu366Ter)
NM_000426.4(LAMA2):c.112+1G>T
NM_000426.4(LAMA2):c.1121_1129delinsTACTT (p.Gly374fs)
NM_000426.4(LAMA2):c.113-2A>C
NM_000426.4(LAMA2):c.1188dup (p.Phe397fs)
NM_000426.4(LAMA2):c.1195_1198del (p.Arg399fs)
NM_000426.4(LAMA2):c.1207-1G>A
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter) rs1779703136
NM_000426.4(LAMA2):c.1289_1290insT (p.Glu430fs)
NM_000426.4(LAMA2):c.1306+2T>G rs1326401124
NM_000426.4(LAMA2):c.1307-1G>A rs1554234051
NM_000426.4(LAMA2):c.1365del (p.Cys456fs)
NM_000426.4(LAMA2):c.1429A>T (p.Lys477Ter)
NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter) rs1780700010
NM_000426.4(LAMA2):c.1467+2T>C rs1554234163
NM_000426.4(LAMA2):c.1533_1534insG (p.Trp512fs)
NM_000426.4(LAMA2):c.1560T>A (p.Cys520Ter) rs1781455687
NM_000426.4(LAMA2):c.1561_1562del (p.Ser521fs)
NM_000426.4(LAMA2):c.1612C>T (p.Gln538Ter) rs1781592001
NM_000426.4(LAMA2):c.1629G>A (p.Trp543Ter)
NM_000426.4(LAMA2):c.1638_1641del (p.Asp547fs)
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter) rs1303773212
NM_000426.4(LAMA2):c.1669del (p.Gln557fs)
NM_000426.4(LAMA2):c.1682_1688del (p.Leu561fs)
NM_000426.4(LAMA2):c.1686_1687insA (p.Ser563fs)
NM_000426.4(LAMA2):c.16_49del (p.Gly6fs)
NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs) rs1583219849
NM_000426.4(LAMA2):c.1749C>G (p.Tyr583Ter)
NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter) rs1781606569
NM_000426.4(LAMA2):c.1782_1782+1delinsT
NM_000426.4(LAMA2):c.1831G>T (p.Glu611Ter) rs1786068382
NM_000426.4(LAMA2):c.1834G>T (p.Glu612Ter) rs1786068836
NM_000426.4(LAMA2):c.183del (p.Gly62fs)
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) rs398123368
NM_000426.4(LAMA2):c.1852G>T (p.Glu618Ter) rs1786070922
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter) rs1231305572
NM_000426.4(LAMA2):c.1929_1931delinsT (p.His644fs)
NM_000426.4(LAMA2):c.1942G>T (p.Glu648Ter) rs1786301728
NM_000426.4(LAMA2):c.1973_1991delinsTAA (p.Glu658fs)
NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter) rs1042843028
NM_000426.4(LAMA2):c.2006_2012del (p.Val669fs)
NM_000426.4(LAMA2):c.2044A>T (p.Lys682Ter) rs1786309995
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.2054T>C (p.Leu685Pro) rs746641607
NM_000426.4(LAMA2):c.2096+1G>A rs1554256965
NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter) rs1787059737
NM_000426.4(LAMA2):c.2164G>A (p.Glu722Lys)
NM_000426.4(LAMA2):c.2166dup (p.Val723fs)
NM_000426.4(LAMA2):c.2233dup (p.Val745fs)
NM_000426.4(LAMA2):c.2323-1G>A rs1278823424
NM_000426.4(LAMA2):c.2323-2A>T
NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter) rs1787862380
NM_000426.4(LAMA2):c.2348del (p.Pro783fs)
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter)
NM_000426.4(LAMA2):c.2395G>T (p.Gly799Ter)
NM_000426.4(LAMA2):c.2400_2401insAGGAAGACATTTA (p.Ser801fs)
NM_000426.4(LAMA2):c.2404G>T (p.Glu802Ter)
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro) rs186538779
NM_000426.4(LAMA2):c.2461_2476del (p.Thr821fs)
NM_000426.4(LAMA2):c.2471T>A (p.Leu824Ter)
NM_000426.4(LAMA2):c.2514del (p.Tyr839fs)
NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter)
NM_000426.4(LAMA2):c.2537+1G>C
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter) rs1789386860
NM_000426.4(LAMA2):c.2587C>T (p.Gln863Ter) rs897845923
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter) rs1789395190
NM_000426.4(LAMA2):c.2670del (p.Lys890fs)
NM_000426.4(LAMA2):c.2703T>A (p.Cys901Ter) rs1789398455
NM_000426.4(LAMA2):c.2710G>T (p.Gly904Ter) rs1789399141
NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter) rs1789399872
NM_000426.4(LAMA2):c.2723del (p.Asp908fs)
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000426.4(LAMA2):c.2768_2771dup (p.Ser925fs)
NM_000426.4(LAMA2):c.2776_2782del (p.Phe926fs)
NM_000426.4(LAMA2):c.2783_2784del (p.Glu928fs)
NM_000426.4(LAMA2):c.2788del (p.Cys930fs)
NM_000426.4(LAMA2):c.2790C>A (p.Cys930Ter)
NM_000426.4(LAMA2):c.2803G>T (p.Gly935Ter)
NM_000426.4(LAMA2):c.2811T>A (p.Cys937Ter)
NM_000426.4(LAMA2):c.2811_2812del (p.Cys937_Glu938delinsTer)
NM_000426.4(LAMA2):c.283+2T>A
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter) rs1018100729
NM_000426.4(LAMA2):c.2856+1G>C
NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter)
NM_000426.4(LAMA2):c.2879C>G (p.Ser960Ter)
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
NM_000426.4(LAMA2):c.2937_2938del (p.Cys979_Glu980delinsTer)
NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter) rs1773282962
NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter) rs1773283278
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter) rs1187391940
NM_000426.4(LAMA2):c.3033C>A (p.Cys1011Ter)
NM_000426.4(LAMA2):c.3089_3126dup (p.Lys1043fs) rs2114460969
NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter) rs1773502803
NM_000426.4(LAMA2):c.3139_3140insT (p.Asn1047fs)
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter) rs1583447808
NM_000426.4(LAMA2):c.3232C>T (p.Gln1078Ter) rs2114493974
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg) rs1583469739
NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter) rs944013929
NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter) rs1774323015
NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter) rs376088608
NM_000426.4(LAMA2):c.3290_3291del (p.His1097fs)
NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer) rs764839142
NM_000426.4(LAMA2):c.32T>C (p.Leu11Pro) rs730880252
NM_000426.4(LAMA2):c.3409A>T (p.Lys1137Ter)
NM_000426.4(LAMA2):c.3412-2A>C rs1562449164
NM_000426.4(LAMA2):c.3421del (p.Glu1141fs)
NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter) rs1774465781
NM_000426.4(LAMA2):c.3556-1G>C rs2114501078
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter) rs1774541313
NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter)
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.4(LAMA2):c.3735+1G>A
NM_000426.4(LAMA2):c.3736-2A>G rs372715292
NM_000426.4(LAMA2):c.3896T>A (p.Leu1299Ter)
NM_000426.4(LAMA2):c.389del (p.Leu130fs)
NM_000426.4(LAMA2):c.3982del (p.Asp1328fs)
NM_000426.4(LAMA2):c.4097_4112del (p.Arg1366fs)
NM_000426.4(LAMA2):c.4106del (p.Thr1369fs)
NM_000426.4(LAMA2):c.4110delinsTTTTT (p.Met1370fs)
NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter) rs1774908660
NM_000426.4(LAMA2):c.4146T>A (p.Cys1382Ter) rs1774908820
NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs)
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter) rs1775300950
NM_000426.4(LAMA2):c.4255_4258dup (p.Cys1420fs) rs2114532990
NM_000426.4(LAMA2):c.4285dup (p.Cys1429fs)
NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter)
NM_000426.4(LAMA2):c.4319_4323del (p.Gln1440fs)
NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter) rs1776319116
NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr) rs143680577
NM_000426.4(LAMA2):c.4397_4398del (p.Cys1466fs)
NM_000426.4(LAMA2):c.4436+1G>C rs376430565
NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter) rs1776730034
NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter)
NM_000426.4(LAMA2):c.4524-2A>T rs1554278541
NM_000426.4(LAMA2):c.4561G>T (p.Gly1521Ter) rs1776953529
NM_000426.4(LAMA2):c.4573C>T (p.Gln1525Ter) rs1776953853
NM_000426.4(LAMA2):c.4576G>T (p.Glu1526Ter)
NM_000426.4(LAMA2):c.4601C>A (p.Ser1534Ter) rs917205971
NM_000426.4(LAMA2):c.4630G>T (p.Gly1544Ter) rs374207670
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs) rs1246940477
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs) rs774051471
NM_000426.4(LAMA2):c.4717+1G>C rs1131691660
NM_000426.4(LAMA2):c.4717+1G>T rs1131691660
NM_000426.4(LAMA2):c.4752_4753del (p.Asp1585fs)
NM_000426.4(LAMA2):c.4819_4825del (p.Lys1607fs)
NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter) rs1247084547
NM_000426.4(LAMA2):c.4861-2A>G rs2114627220
NM_000426.4(LAMA2):c.4878del (p.Gln1626fs)
NM_000426.4(LAMA2):c.4913delinsAATAAAGAGAGACAGCA (p.Gly1638delinsGluTer)
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter) rs373997222
NM_000426.4(LAMA2):c.4996C>T (p.Gln1666Ter) rs2114654019
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter) rs1778794887
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter) rs1008335405
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter) rs201632009
NM_000426.4(LAMA2):c.5062del (p.Asp1688fs)
NM_000426.4(LAMA2):c.507_508insCAAGAGA (p.Ala170fs)
NM_000426.4(LAMA2):c.5085dup (p.Ala1696fs) rs1351661862
NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter) rs1779318396
NM_000426.4(LAMA2):c.512_513del (p.Val171fs)
NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter) rs1779323338
NM_000426.4(LAMA2):c.5184del (p.Arg1729fs)
NM_000426.4(LAMA2):c.5235-1G>A rs1779406142
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer) rs1211739649
NM_000426.4(LAMA2):c.5274del (p.Phe1758fs)
NM_000426.4(LAMA2):c.5284dup (p.Arg1762fs)
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs) rs768458445
NM_000426.4(LAMA2):c.5342del (p.Asn1781fs)
NM_000426.4(LAMA2):c.5445+1G>A rs1779423047
NM_000426.4(LAMA2):c.5460del (p.Val1821fs) rs1562530132
NM_000426.4(LAMA2):c.5563-1G>A
NM_000426.4(LAMA2):c.5563-2A>G rs786204779
NM_000426.4(LAMA2):c.5568_5569delinsA (p.Glu1857fs)
NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter) rs1165626901
NM_000426.4(LAMA2):c.5673_5674del (p.Gln1892fs)
NM_000426.4(LAMA2):c.5674C>T (p.Gln1892Ter) rs1462522184
NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter) rs1775311864
NM_000426.4(LAMA2):c.5836A>T (p.Lys1946Ter)
NM_000426.4(LAMA2):c.5851G>T (p.Glu1951Ter)
NM_000426.4(LAMA2):c.5865+2T>G rs1554290316
NM_000426.4(LAMA2):c.5866-1G>A rs1064797040
NM_000426.4(LAMA2):c.5866-2A>G rs1554295204
NM_000426.4(LAMA2):c.5913_5914del (p.Gln1972fs)
NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter) rs1781398399
NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter) rs1775313883
NM_000426.4(LAMA2):c.6030_6031del (p.Asp2011fs)
NM_000426.4(LAMA2):c.6103C>T (p.Gln2035Ter)
NM_000426.4(LAMA2):c.6146_6147del (p.Lys2049fs)
NM_000426.4(LAMA2):c.6147del (p.Asp2050fs)
NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter) rs886061039
NM_000426.4(LAMA2):c.6232A>T (p.Lys2078Ter)
NM_000426.4(LAMA2):c.6248_6249del (p.Val2083fs)
NM_000426.4(LAMA2):c.6262A>T (p.Lys2088Ter) rs1782086229
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter) rs1782333085
NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter) rs1775315900
NM_000426.4(LAMA2):c.6429+1G>C rs1262029350
NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter) rs1782761474
NM_000426.4(LAMA2):c.6560del (p.Gly2187fs)
NM_000426.4(LAMA2):c.6573+1G>A rs757435241
NM_000426.4(LAMA2):c.6573+1G>T rs757435241
NM_000426.4(LAMA2):c.6623G>A (p.Trp2208Ter)
NM_000426.4(LAMA2):c.6643G>T (p.Gly2215Ter)
NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter)
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter) rs1583790201
NM_000426.4(LAMA2):c.6714_6722del (p.Arg2239_Gly2241del) rs2114794775
NM_000426.4(LAMA2):c.6919_6920del (p.Tyr2307fs) rs757404275
NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter) rs1778273068
NM_000426.4(LAMA2):c.6948G>A (p.Trp2316Ter)
NM_000426.4(LAMA2):c.7003del (p.Glu2335fs)
NM_000426.4(LAMA2):c.7126_7127insA (p.Leu2376fs)
NM_000426.4(LAMA2):c.7142delinsGT (p.Ala2381fs)
NM_000426.4(LAMA2):c.7215_7217delinsA (p.Ser2406fs)
NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter) rs1783482812
NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs)
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro) rs1562273395
NM_000426.4(LAMA2):c.7296del (p.Lys2432fs)
NM_000426.4(LAMA2):c.7301-1G>A
NM_000426.4(LAMA2):c.731_732del (p.Arg244fs)
NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter) rs1377818460
NM_000426.4(LAMA2):c.7374del (p.Phe2458fs)
NM_000426.4(LAMA2):c.7444A>T (p.Lys2482Ter) rs1554303937
NM_000426.4(LAMA2):c.7489A>T (p.Lys2497Ter)
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs) rs1480934961
NM_000426.4(LAMA2):c.7578_7579del (p.Tyr2527fs)
NM_000426.4(LAMA2):c.7583_7584del (p.Thr2528fs)
NM_000426.4(LAMA2):c.7621_7622insTA (p.Pro2541fs)
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277
NM_000426.4(LAMA2):c.7658C>A (p.Ser2553Ter)
NM_000426.4(LAMA2):c.7675G>T (p.Glu2559Ter)
NM_000426.4(LAMA2):c.7692_7693insA (p.Leu2565fs)
NM_000426.4(LAMA2):c.7749+1G>C
NM_000426.4(LAMA2):c.7750-2A>G rs778539477
NM_000426.4(LAMA2):c.7771_7772delinsT (p.Asn2591fs)
NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter) rs781316719
NM_000426.4(LAMA2):c.7834A>T (p.Arg2612Ter)
NM_000426.4(LAMA2):c.7870_7871dup (p.Ser2625fs) rs2114849148
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.4(LAMA2):c.7899-1G>C
NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter) rs1778283565
NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter) rs1784882494
NM_000426.4(LAMA2):c.7976del (p.Lys2659fs)
NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter) rs1784888496
NM_000426.4(LAMA2):c.8075+1G>A rs1055407857
NM_000426.4(LAMA2):c.8075+2dup rs2114859967
NM_000426.4(LAMA2):c.8076-1G>A rs1554310169
NM_000426.4(LAMA2):c.8079dup (p.Met2694fs)
NM_000426.4(LAMA2):c.8096del (p.Pro2699fs) rs1784912657
NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter) rs1289855948
NM_000426.4(LAMA2):c.8169_8173del (p.Ala2723_Pro2724insTer) rs1554310242
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter) rs886043648
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter) rs1784919273
NM_000426.4(LAMA2):c.819+1G>A rs1554226186
NM_000426.4(LAMA2):c.820-1G>A rs1370654793
NM_000426.4(LAMA2):c.8206_8209del (p.Thr2736fs)
NM_000426.4(LAMA2):c.8256del (p.Ala2753fs)
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter) rs1028599119
NM_000426.4(LAMA2):c.8377_8383del (p.Val2793fs)
NM_000426.4(LAMA2):c.8430_8431insAG (p.Ala2811fs)
NM_000426.4(LAMA2):c.8540G>A (p.Trp2847Ter)
NM_000426.4(LAMA2):c.8542del (p.His2848fs)
NM_000426.4(LAMA2):c.8548-2A>G rs369224209
NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del) rs398123389
NM_000426.4(LAMA2):c.8597_8598insAA (p.Ser2867fs)
NM_000426.4(LAMA2):c.8603dup (p.Asn2868fs)
NM_000426.4(LAMA2):c.861C>A (p.Cys287Ter)
NM_000426.4(LAMA2):c.8625dup (p.Ala2876fs)
NM_000426.4(LAMA2):c.8712T>A (p.Tyr2904Ter)
NM_000426.4(LAMA2):c.872del (p.Gly291fs) rs1222620175
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter) rs1034133545
NM_000426.4(LAMA2):c.8781del (p.Ser2928fs)
NM_000426.4(LAMA2):c.8787_8793del (p.Phe2929fs)
NM_000426.4(LAMA2):c.8849_8857+1del
NM_000426.4(LAMA2):c.8858-1G>A rs1554319117
NM_000426.4(LAMA2):c.8953dup (p.Met2985fs)
NM_000426.4(LAMA2):c.8958_8961del (p.Asp2986fs)
NM_000426.4(LAMA2):c.8979_8982dup (p.Glu2995Ter)
NM_000426.4(LAMA2):c.8989-15T>G rs372370665
NM_000426.4(LAMA2):c.9095dup (p.Ile3033fs) rs1554320205
NM_000426.4(LAMA2):c.9211+1G>A rs1554320318
NM_000426.4(LAMA2):c.9212-2A>G rs1554321125
NM_000426.4(LAMA2):c.9221del (p.Lys3074fs)
NM_000426.4(LAMA2):c.9227_9243dup (p.Ile3082delinsLeuAlaTer)
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter) rs121913571
NM_000426.4(LAMA2):c.938_939del (p.Thr313fs) rs2114967814
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000426.4(LAMA2):c.966T>A (p.Cys322Ter)
NM_000426.4(LAMA2):c.987del (p.Trp330fs)
NM_000430.3:c.(32+1_33-1)_(399+1_400-1)del
NM_000430.3:c.(568+1_569-1)_(671+1_672-1)del
NM_000430.3:c.(?_-30)_(*220_?)del
NM_000430.4(PAFAH1B1):c.1009C>G (p.His337Asp) rs587784236
NM_000430.4(PAFAH1B1):c.1044dup (p.Gly349fs) rs2069358559
NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter) rs587784241
NM_000430.4(PAFAH1B1):c.1142A>G (p.His381Arg) rs2069361452
NM_000430.4(PAFAH1B1):c.1193G>A (p.Gly398Asp) rs587784247
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys) rs587784250
NM_000430.4(PAFAH1B1):c.144dup (p.Gly49fs)
NM_000430.4(PAFAH1B1):c.154dup (p.Glu52fs) rs2069103320
NM_000430.4(PAFAH1B1):c.19C>T (p.Gln7Ter) rs2068649745
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.4(PAFAH1B1):c.400-1G>A rs2151663926
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000430.4(PAFAH1B1):c.485G>A (p.Gly162Asp)
NM_000430.4(PAFAH1B1):c.503G>A (p.Cys168Tyr) rs200390886
NM_000430.4(PAFAH1B1):c.568+2T>C rs2151664151
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.4(PAFAH1B1):c.569-3del rs797045863
NM_000430.4(PAFAH1B1):c.661G>A (p.Val221Met) rs1262666760
NM_000430.4(PAFAH1B1):c.671+4A>G rs587784279
NM_000430.4(PAFAH1B1):c.671+5G>A rs587784280
NM_000430.4(PAFAH1B1):c.680_681del (p.Val227fs) rs2069226261
NM_000430.4(PAFAH1B1):c.681dup (p.Lys228fs) rs2151667785
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs) rs797045865
NM_000430.4(PAFAH1B1):c.707G>A (p.Trp236Ter)
NM_000430.4(PAFAH1B1):c.721del (p.Arg241fs) rs2069227227
NM_000430.4(PAFAH1B1):c.751A>C (p.Ser251Arg) rs587784287
NM_000430.4(PAFAH1B1):c.899A>G (p.Glu300Gly) rs1555527149
NM_000430.4(PAFAH1B1):c.900G>A (p.Glu300=) rs587784291
NM_000430.4(PAFAH1B1):c.900G>C (p.Glu300Asp) rs587784291
NM_000430.4(PAFAH1B1):c.938C>T (p.Ser313Phe) rs587784293
NM_000430.4(PAFAH1B1):c.965T>G (p.Met322Arg) rs587784294
NM_000430.4(PAFAH1B1):c.967T>A (p.Trp323Arg) rs2069271269
NM_000432.4(MYL2):c.499T>C (p.Ter167Gln) rs2071647433
NM_000475.5(NR0B1):c.1006dup (p.Val336fs) rs1926565039
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro) rs386134262
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.1168+1_1168+20del rs1555972943
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln) rs1926485824
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
NM_000475.5(NR0B1):c.510_522dup (p.Ser175fs) rs2147007005
NM_000475.5(NR0B1):c.606C>A (p.Cys202Ter)
NM_000475.5(NR0B1):c.617del (p.His206fs)
NM_000475.5(NR0B1):c.64C>T (p.Gln22Ter)
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro) rs2147006592
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro) rs1060499835
NM_000515.5(GH1):c.131A>C (p.His44Pro) rs754126557
NM_000515.5(GH1):c.254C>T (p.Pro85Leu) rs1567803095
NM_000515.5(GH1):c.334T>C (p.Trp112Arg)
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_000539.3(RHO):c.281C>T (p.Thr94Ile) rs104893796
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) rs1578278438
NM_000539.3(RHO):c.362G>T (p.Gly121Val) rs2084774644
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250
NM_000540.2(RYR1):c.14970delG rs1568613962
NM_000540.2(RYR1):c.[14524G>A];[2029C>T]
NM_000540.2(RYR1):c.[14645C>T];[6721C>T]
NM_000540.3(RYR1):c.10441-48G>A
NM_000540.3(RYR1):c.10729C>G (p.Arg3577Gly) rs538497899
NM_000540.3(RYR1):c.10924T>G (p.Tyr3642Asp) rs1971575594
NM_000540.3(RYR1):c.11715G>C (p.Gln3905His)
NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys) rs774919231
NM_000540.3(RYR1):c.12012G>A (p.Gln4004=)
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu) rs193922766
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.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12590_12591del (p.Ile4196_Ser4197insTer)
NM_000540.3(RYR1):c.128A>C (p.Asn43Thr)
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.13041_13066del (p.Ala4348fs)
NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly) rs1568593984
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys) rs878854375
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14411A>G (p.His4804Arg) rs1568604308
NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr) rs1274780855
NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)
NM_000540.3(RYR1):c.14591A>C (p.Tyr4864Ser) rs118192146
NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del) rs2145896801
NM_000540.3(RYR1):c.14596A>G (p.Lys4866Glu)
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met) rs2145917373
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser) rs1568614042
NM_000540.3(RYR1):c.15047_15048del (p.Gln5016fs) rs1555806119
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.177dup (p.Asp60fs) rs756326114
NM_000540.3(RYR1):c.2168-1G>A
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter) rs371455345
NM_000540.3(RYR1):c.2338dup (p.Val780fs) rs1967603354
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.3(RYR1):c.2633A>G (p.His878Arg)
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=) rs1234999215
NM_000540.3(RYR1):c.3880G>T (p.Val1294Phe) rs1968540857
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.3(RYR1):c.4454G>A (p.Ser1485Asn) rs1317036540
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter) rs1332371891
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.5915A>T (p.Asn1972Ile) rs1377668924
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=) rs193922787
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys) rs1366464512
NM_000540.3(RYR1):c.6500T>G (p.Ile2167Ser)
NM_000540.3(RYR1):c.685T>C (p.Cys229Arg) rs1600649879
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7835+1G>A rs1057524858
NM_000540.3(RYR1):c.7836-1G>A rs1568507354
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro) rs1263237391
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs) rs1600842678
NM_000540.3(RYR1):c.8136dup (p.Asp2713fs) rs761483896
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter) rs146514343
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val) rs775492883
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)
NM_000540.3(RYR1):c.9345del (p.Ser3116fs) rs2145663047
NM_000540.3(RYR1):c.9633C>A (p.Asn3211Lys) rs978984063
NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)
NM_000540.3(RYR1):c.[1834G>C];[2045G>A]
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000554.6(CRX):c.437_449del (p.Leu146fs) rs1968165080
NM_000554.6(CRX):c.463dup (p.Thr155fs) rs2123743110
NM_000554.6(CRX):c.480_481del (p.Ser161fs) rs1599991538
NM_000554.6(CRX):c.545C>G (p.Ser182Ter) rs2123743235
NM_000554.6(CRX):c.565del (p.Ala189fs) rs1568626289
NM_000554.6(CRX):c.648del (p.Ser216fs) rs869312175
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) rs1064797247
NM_000554.6(CRX):c.663C>G (p.Tyr221Ter)
NM_000554.6(CRX):c.766C>T (p.Gln256Ter) rs1968173024
NM_000554.6(CRX):c.774T>A (p.Tyr258Ter) rs767273026
NM_000747.3(CHRNB1):c.199-2A>C
NM_000747.3(CHRNB1):c.353+1del
NM_000747.3(CHRNB1):c.354-1G>A rs1597749210
NM_000747.3(CHRNB1):c.58+1G>A
NM_000747.3(CHRNB1):c.611-1G>C
NM_000747.3(CHRNB1):c.687_688insT (p.Gly230fs) rs1908762801
NM_000747.3(CHRNB1):c.757_820+135del
NM_000747.3(CHRNB1):c.854T>C (p.Leu285Pro) rs2150842362
NM_000751.3(CHRND):c.1107del (p.Ser370fs)
NM_000751.3(CHRND):c.248G>A (p.Trp83Ter) rs2106208285
NM_000751.3(CHRND):c.52+1G>A rs2106205676
NM_000751.3(CHRND):c.982_983del (p.Val328fs)
NM_000823.4(GHRHR):c.260C>A (p.Ser87Ter)
NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro) rs606231412
NM_000823.4(GHRHR):c.495C>A (p.His165Gln) rs606231413
NM_000823.4(GHRHR):c.[1102C>T;481C>T]
NM_000843.4(GRM6):c.2066del (p.Pro689fs) rs755967391
NM_000843.4(GRM6):c.340C>T (p.Gln114Ter)
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) rs1057518949
NM_000965.5(RARB):c.638T>C (p.Leu213Pro) rs869025222
NM_001004334.4(GPR179):c.1727del (p.Tyr576fs) rs1567725425
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter) rs1553722736
NM_001031689.3(PLAA):c.1570C>T (p.Arg524Ter)
NM_001031689.3(PLAA):c.1800G>A (p.Trp600Ter)
NM_001031689.3(PLAA):c.2350del (p.Lys783_Val784insTer) rs1587143858
NM_001031689.3(PLAA):c.850_860del (p.Asp284fs) rs2131392225
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His) rs1575362239
NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]
NM_001042475.3(CEP85L):c.173G>A (p.Ser58Asn) rs2115322699
NM_001042475.3(CEP85L):c.189T>G (p.Ser63Arg) rs2115322620
NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn) rs1774229245
NM_001042475.3(CEP85L):c.2089C>T (p.Gln697Ter)
NM_001042750.2(STAG2):c.3222dup (p.Ser1075fs)
NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys) rs886037663
NM_001070.5(TUBG1):c.769A>T (p.Ile257Phe) rs770355511
NM_001070.5(TUBG1):c.776C>T (p.Ser259Leu) rs1555631383
NM_001077365.2(POMT1):c.1000C>T (p.Arg334Ter)
NM_001077365.2(POMT1):c.101_102insTA (p.Tyr36fs)
NM_001077365.2(POMT1):c.103dup (p.Thr35fs)
NM_001077365.2(POMT1):c.1145del (p.Val382fs)
NM_001077365.2(POMT1):c.1175+2dup rs886041907
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter) rs1554778005
NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys) rs1948104184
NM_001077365.2(POMT1):c.1272+2T>C rs1564365317
NM_001077365.2(POMT1):c.1272+2dup
NM_001077365.2(POMT1):c.1273-2A>G
NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) rs1554780670
NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)
NM_001077365.2(POMT1):c.1392G>C (p.Trp464Cys)
NM_001077365.2(POMT1):c.1436del (p.Gly479fs)
NM_001077365.2(POMT1):c.1550del (p.Asn517fs)
NM_001077365.2(POMT1):c.1585-2A>G rs2131880195
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
NM_001077365.2(POMT1):c.1699-1G>A rs1949874222
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.1733G>A (p.Trp578Ter)
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1758del (p.Ile587fs)
NM_001077365.2(POMT1):c.1781G>A (p.Trp594Ter)
NM_001077365.2(POMT1):c.1821_1822dup (p.Gln608fs)
NM_001077365.2(POMT1):c.1825+2T>C
NM_001077365.2(POMT1):c.1842_1860dup (p.Cys621fs)
NM_001077365.2(POMT1):c.1983_1987del (p.His661fs)
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs) rs1950265792
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro) rs776988725
NM_001077365.2(POMT1):c.2140del (p.Trp714fs)
NM_001077365.2(POMT1):c.2145_2156del (p.Lys715_Asp719delinsAsn) rs1564395473
NM_001077365.2(POMT1):c.229+2T>C rs1945782278
NM_001077365.2(POMT1):c.230-2A>G
NM_001077365.2(POMT1):c.314G>A (p.Arg105His) rs1554772469
NM_001077365.2(POMT1):c.389_407del (p.His130fs)
NM_001077365.2(POMT1):c.389del (p.His130fs)
NM_001077365.2(POMT1):c.427+1_427+2insA rs900762841
NM_001077365.2(POMT1):c.428-2A>G rs1554773448
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.514_518delinsTCCTAC (p.Lys172fs)
NM_001077365.2(POMT1):c.539+2T>C
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_001077365.2(POMT1):c.583del (p.Val195fs)
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.669G>A (p.Trp223Ter)
NM_001077365.2(POMT1):c.699+14_699+17dup
NM_001077365.2(POMT1):c.699+24C>A
NM_001077365.2(POMT1):c.699+67G>T rs776061161
NM_001077365.2(POMT1):c.699+67dup
NM_001077365.2(POMT1):c.773TCT[1] (p.Phe259del)
NM_001077365.2(POMT1):c.856-2A>G
NM_001077365.2(POMT1):c.987-2A>C rs1453773610
NM_001077365.2(POMT1):c.987-2A>G
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689
NM_001077365.2(POMT1):c.[2101dup];[512T>G]
NM_001079802.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_001079802.2(FKTN):c.106-1G>C rs2132594628
NM_001079802.2(FKTN):c.106-2A>C
NM_001079802.2(FKTN):c.106-2A>G rs1554748292
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.1172+1G>A rs1554761462
NM_001079802.2(FKTN):c.1173-1G>A rs557699482
NM_001079802.2(FKTN):c.1173-1G>C rs557699482
NM_001079802.2(FKTN):c.1173-2A>G rs1554766808
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)
NM_001079802.2(FKTN):c.165+1G>T
NM_001079802.2(FKTN):c.165+5G>A rs2132596368
NM_001079802.2(FKTN):c.166-1G>A
NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.369+1G>A rs764125009
NM_001079802.2(FKTN):c.369+2T>G
NM_001079802.2(FKTN):c.370-2A>G rs1554752805
NM_001079802.2(FKTN):c.370-2A>T rs1554752805
NM_001079802.2(FKTN):c.378del (p.Trp126fs)
NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs)
NM_001079802.2(FKTN):c.429del (p.Asp144fs) rs1057516258
NM_001079802.2(FKTN):c.436dup (p.Arg146fs)
NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu) rs119464997
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.569_570del (p.Arg190fs)
NM_001079802.2(FKTN):c.587_590del (p.Asp196fs)
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.647+1G>A rs2132802825
NM_001079802.2(FKTN):c.648-1243G>T rs1554754182
NM_001079802.2(FKTN):c.648-2A>G
NM_001079802.2(FKTN):c.658_661del (p.Gln220fs) rs1057517160
NM_001079802.2(FKTN):c.69dup (p.Gln24fs)
NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) rs377417974
NM_001079802.2(FKTN):c.770del (p.Ala257fs) rs1057516966
NM_001079802.2(FKTN):c.780+1G>A rs370819786
NM_001079802.2(FKTN):c.780+2T>A
NM_001079802.2(FKTN):c.780+2T>C rs1588136441
NM_001079802.2(FKTN):c.781-1G>A
NM_001079802.2(FKTN):c.840dup (p.Leu281fs)
NM_001079802.2(FKTN):c.911-2A>C
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter) rs905353542
NM_001079872.2(CUL4B):c.1423del (p.Gln475fs)
NM_001079872.2(CUL4B):c.1428G>A (p.Trp476Ter) rs1924000101
NM_001079872.2(CUL4B):c.1444-1G>A
NM_001079872.2(CUL4B):c.1741+4_1741+7del rs1569389364
NM_001079872.2(CUL4B):c.1786C>T (p.Arg596Cys) rs1556200641
NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)
NM_001079872.2(CUL4B):c.2576_2588del (p.Gln858_Leu859insTer)
NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln) rs1556173896
NM_001079872.2(CUL4B):c.695dup (p.Tyr232Ter)
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)
NM_001080449.3(DNA2):c.3114+6del rs587777614
NM_001080517.3(SETD5):c.2476+2T>C rs1575508937
NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser) rs1603326578
NM_001081550.2(THOC2):c.1844G>A (p.Cys615Tyr) rs2147667154
NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser) rs2047665750
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001081550.2(THOC2):c.2695T>C (p.Tyr899His) rs2147617004
NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys) rs2047177327
NM_001081550.2(THOC2):c.34T>C (p.Trp12Arg) rs2148016775
NM_001081550.2(THOC2):c.3503+4A>C rs1556015437
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr) rs1556014935
NM_001081550.2(THOC2):c.4450-2A>G rs1556005930
NM_001099857.5(IKBKG):c.363_367del (p.Leu122fs)
NM_001099922.3(ALG13):c.131G>A (p.Gly44Glu)
NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile) rs398122394
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser) rs121909531
NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg) rs1553255312
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu) rs1553255312
NM_001100.4(ACTA1):c.1003C>G (p.Pro335Ala) rs1558081384
NM_001100.4(ACTA1):c.1004C>G (p.Pro335Arg) rs1057518493
NM_001100.4(ACTA1):c.1004C>T (p.Pro335Leu) rs1057518493
NM_001100.4(ACTA1):c.1043T>A (p.Leu348Gln) rs2102735038
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.4(ACTA1):c.1075A>G (p.Ile359Val)
NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu) rs1553255293
NM_001100.4(ACTA1):c.1123A>G (p.Lys375Glu) rs1571892209
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe) rs1571892196
NM_001100.4(ACTA1):c.1130T>C (p.Phe377Ser) rs1571892193
NM_001100.4(ACTA1):c.130-1G>A
NM_001100.4(ACTA1):c.142G>C (p.Gly48Arg) rs794727488
NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.4(ACTA1):c.172G>A (p.Asp58Asn) rs1085308014
NM_001100.4(ACTA1):c.197T>G (p.Ile66Ser) rs1553255502
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg) rs1659978909
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile) rs1659978452
NM_001100.4(ACTA1):c.286C>G (p.Leu96Val) rs2102736312
NM_001100.4(ACTA1):c.304G>A (p.Glu102Lys) rs1057520216
NM_001100.4(ACTA1):c.327G>C (p.Glu109Asp)
NM_001100.4(ACTA1):c.346G>A (p.Ala116Thr) rs1659975786
NM_001100.4(ACTA1):c.347C>T (p.Ala116Val) rs1659975747
NM_001100.4(ACTA1):c.350del (p.Asn117fs) rs1659975666
NM_001100.4(ACTA1):c.402G>A (p.Met134Ile) rs1553255486
NM_001100.4(ACTA1):c.413T>A (p.Ile138Asn) rs587780271
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp) rs1435160117
NM_001100.4(ACTA1):c.430C>T (p.Leu144Phe) rs886039557
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter) rs371410845
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.4(ACTA1):c.448A>T (p.Thr150Ser)
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.4(ACTA1):c.521C>T (p.Pro174Leu) rs1057519311
NM_001100.4(ACTA1):c.529A>G (p.Ile177Val) rs1558081804
NM_001100.4(ACTA1):c.541del (p.Asp181fs) rs759242559
NM_001100.4(ACTA1):c.553C>A (p.Arg185Ser) rs1064794287
NM_001100.4(ACTA1):c.556G>A (p.Asp186Asn) rs2102735904
NM_001100.4(ACTA1):c.556G>C (p.Asp186His)
NM_001100.4(ACTA1):c.581_589del (p.Ile194_Glu197delinsLys) rs1659962077
NM_001100.4(ACTA1):c.586A>C (p.Thr196Pro)
NM_001100.4(ACTA1):c.592C>T (p.Arg198Cys) rs1659962016
NM_001100.4(ACTA1):c.617-5C>A rs199804338
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.685A>G (p.Met229Val) rs794727714
NM_001100.4(ACTA1):c.685A>T (p.Met229Leu) rs794727714
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.4(ACTA1):c.758G>A (p.Gly253Asp)
NM_001100.4(ACTA1):c.762C>G (p.Asn254Lys) rs1571892988
NM_001100.4(ACTA1):c.766C>T (p.Arg256Cys) rs1558081624
NM_001100.4(ACTA1):c.812T>G (p.Met271Arg) rs1553255360
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val) rs1553255357
NM_001100.4(ACTA1):c.834G>T (p.Glu278Asp)
NM_001100.4(ACTA1):c.844A>C (p.Asn282His)
NM_001100.4(ACTA1):c.89G>A (p.Arg30Lys)
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001100.4(ACTA1):c.936del (p.Asp313fs)
NM_001100.4(ACTA1):c.980T>A (p.Met327Lys) rs2102735175
NM_001101.5(ACTB):c.1013C>T (p.Ser338Phe) rs1554329113
NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg) rs2128241170
NM_001101.5(ACTB):c.1077_1078delinsTT (p.Lys359_Gln360delinsAsnTer)
NM_001101.5(ACTB):c.1078dup (p.Gln360fs) rs1562718649
NM_001101.5(ACTB):c.113C>T (p.Pro38Leu) rs1554329646
NM_001101.5(ACTB):c.118C>T (p.His40Tyr) rs1373863123
NM_001101.5(ACTB):c.124G>A (p.Gly42Ser) rs1562719872
NM_001101.5(ACTB):c.142G>T (p.Gly48Cys) rs2128241410
NM_001101.5(ACTB):c.143G>A (p.Gly48Asp) rs886041268
NM_001101.5(ACTB):c.158A>G (p.Tyr53Cys) rs2128241408
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe) rs281875332
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) rs1562720119
NM_001101.5(ACTB):c.217C>T (p.His73Tyr) rs786205585
NM_001101.5(ACTB):c.219C>G (p.His73Gln)
NM_001101.5(ACTB):c.220G>A (p.Gly74Ser) rs587779770
NM_001101.5(ACTB):c.269_271del (p.Phe90del) rs1554329546
NM_001101.5(ACTB):c.323C>A (p.Ala108Asp) rs1411316425
NM_001101.5(ACTB):c.325C>T (p.Pro109Ser) rs1784829872
NM_001101.5(ACTB):c.491C>A (p.Pro164His) rs1784814819
NM_001101.5(ACTB):c.4G>T (p.Asp2Tyr) rs1784841309
NM_001101.5(ACTB):c.511C>T (p.Leu171Phe)
NM_001101.5(ACTB):c.527T>C (p.Leu176Pro) rs1554329331
NM_001101.5(ACTB):c.587G>T (p.Arg196Leu) rs281875334
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001101.5(ACTB):c.598T>G (p.Phe200Val) rs2128241275
NM_001101.5(ACTB):c.602C>T (p.Thr201Ile)
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.625G>T (p.Val209Leu) rs587779777
NM_001101.5(ACTB):c.629G>A (p.Arg210His) rs1064793444
NM_001101.5(ACTB):c.64G>A (p.Ala22Thr) rs587780273
NM_001101.5(ACTB):c.70G>A (p.Asp24Asn) rs2128241451
NM_001101.5(ACTB):c.721G>A (p.Glu241Lys) rs2128241271
NM_001101.5(ACTB):c.7_8delinsTT (p.Asp3Phe) rs1784841235
NM_001101.5(ACTB):c.826G>A (p.Glu276Lys) rs1554329216
NM_001101.5(ACTB):c.82C>G (p.Arg28Gly) rs886041270
NM_001101.5(ACTB):c.83G>A (p.Arg28Gln) rs2128241449
NM_001101.5(ACTB):c.874dup (p.Asp292fs) rs2128241236
NM_001101.5(ACTB):c.931G>C (p.Asp311His) rs1784803432
NM_001101.5(ACTB):c.965C>G (p.Pro322Arg) rs1784802825
NM_001101362.3(KBTBD13):c.1170G>T (p.Lys390Asn)
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.344_345insT (p.Lys115fs)
NM_001101426.4(CRPPA):c.377G>A (p.Arg126His)
NM_001101426.4(CRPPA):c.836-5T>G rs1583487698
NM_001101426.4(CRPPA):c.933+1G>A rs1784247205
NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter) rs370490152
NM_001110556.2(FLNA):c.1061_1065del (p.His354fs) rs786205180
NM_001110556.2(FLNA):c.1065+1G>T rs2067762985
NM_001110556.2(FLNA):c.1066-1G>A rs2148118126
NM_001110556.2(FLNA):c.1119C>G (p.Tyr373Ter) rs782121971
NM_001110556.2(FLNA):c.1130C>G (p.Ser377Ter)
NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg) rs398123613
NM_001110556.2(FLNA):c.137del (p.Gln46fs) rs786205181
NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter) rs786205182
NM_001110556.2(FLNA):c.2137-1G>A rs2148115834
NM_001110556.2(FLNA):c.238C>G (p.Leu80Val) rs2148121932
NM_001110556.2(FLNA):c.2401_2402insCT (p.Gln801fs) rs2148114607
NM_001110556.2(FLNA):c.2405-1G>C
NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)
NM_001110556.2(FLNA):c.2827-2A>C rs2067713488
NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)
NM_001110556.2(FLNA):c.3529del (p.Glu1177fs) rs786205188
NM_001110556.2(FLNA):c.3544C>T (p.Gln1182Ter)
NM_001110556.2(FLNA):c.373G>A (p.Asp125Asn) rs2148121838
NM_001110556.2(FLNA):c.374-2A>G
NM_001110556.2(FLNA):c.3805+1G>A
NM_001110556.2(FLNA):c.3805+2T>C
NM_001110556.2(FLNA):c.3875_3888dup (p.Val1297fs) rs786205189
NM_001110556.2(FLNA):c.3980-5_3990dup rs786205190
NM_001110556.2(FLNA):c.4006del (p.Asp1336fs) rs786205191
NM_001110556.2(FLNA):c.4142+1G>A rs1603360906
NM_001110556.2(FLNA):c.4143-1G>T rs1557177485
NM_001110556.2(FLNA):c.418C>T (p.Leu140Phe) rs2148119483
NM_001110556.2(FLNA):c.4596_4598+5del rs1557177279
NM_001110556.2(FLNA):c.4598+1G>A
NM_001110556.2(FLNA):c.4617_4618del (p.Leu1540fs) rs786205194
NM_001110556.2(FLNA):c.4935C>A (p.Cys1645Ter) rs786205197
NM_001110556.2(FLNA):c.4943del (p.Thr1648fs) rs786205198
NM_001110556.2(FLNA):c.5021_5022del (p.Val1674fs) rs786205199
NM_001110556.2(FLNA):c.5417-2A>G
NM_001110556.2(FLNA):c.5686+1G>C rs1557176315
NM_001110556.2(FLNA):c.622+1G>A rs2148119316
NM_001110556.2(FLNA):c.6425_6428del (p.Glu2142fs) rs2148104376
NM_001110556.2(FLNA):c.6503-2A>C rs112363874
NM_001110556.2(FLNA):c.6580G>T (p.Glu2194Ter) rs786205202
NM_001110556.2(FLNA):c.6772G>T (p.Glu2258Ter) rs1569551449
NM_001110556.2(FLNA):c.7023+1G>T rs2148102980
NM_001110556.2(FLNA):c.732dup (p.Glu245fs) rs786205203
NM_001110556.2(FLNA):c.7333+1G>A rs1557175424
NM_001110556.2(FLNA):c.7333+1G>C rs1557175424
NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys) rs797044753
NM_001110556.2(FLNA):c.7768CTG[1] (p.Leu2591del) rs2067597172
NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del) rs863223635
NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)
NM_001110556.2(FLNA):c.868+1G>A
NM_001110556.2(FLNA):c.987+1G>A rs786205204
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1152_1155del (p.His384fs)
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs) rs2065902096
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser) rs267608399
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001122769.3(LCA5):c.1099-1G>A
NM_001122769.3(LCA5):c.122del (p.Ser41fs)
NM_001122769.3(LCA5):c.1236G>A (p.Trp412Ter)
NM_001122769.3(LCA5):c.129dup (p.Ala44fs)
NM_001122769.3(LCA5):c.1378G>T (p.Glu460Ter) rs2127665995
NM_001122769.3(LCA5):c.1545dup (p.Glu516fs) rs1769703329
NM_001122769.3(LCA5):c.1550_1551del (p.Arg517fs)
NM_001122769.3(LCA5):c.1553T>A (p.Leu518Ter)
NM_001122769.3(LCA5):c.1673dup (p.Ser559fs)
NM_001122769.3(LCA5):c.1730dup (p.Leu577fs)
NM_001122769.3(LCA5):c.1795G>T (p.Glu599Ter)
NM_001122769.3(LCA5):c.1860_1861dup (p.Ser621fs)
NM_001122769.3(LCA5):c.190+1G>A rs746351112
NM_001122769.3(LCA5):c.30dup (p.Asp11Ter) rs1248460033
NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly) rs1766318937
NM_001122769.3(LCA5):c.400_403del (p.Lys134fs)
NM_001122769.3(LCA5):c.41del (p.Arg14fs)
NM_001122769.3(LCA5):c.491A>G (p.His164Arg)
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs) rs1286660951
NM_001122769.3(LCA5):c.550del (p.Ala184fs) rs2127680021
NM_001122769.3(LCA5):c.686_687del (p.Glu229fs)
NM_001122769.3(LCA5):c.858+1G>C rs753594556
NM_001122769.3(LCA5):c.887del (p.Asn296fs)
NM_001122769.3(LCA5):c.953dup (p.Asn318fs) rs1429753961
NM_001122769.3(LCA5):c.955+1G>A
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu) rs757141700
NM_001127178.3(PIGG):c.1114+2T>G
NM_001127178.3(PIGG):c.1332+1G>T rs779043705
NM_001127178.3(PIGG):c.1333-1G>A
NM_001127178.3(PIGG):c.154+2T>C
NM_001127178.3(PIGG):c.2069+1G>C rs2108969826
NM_001127178.3(PIGG):c.2069+2T>G
NM_001127178.3(PIGG):c.2778_2782del (p.Cys927fs)
NM_001127178.3(PIGG):c.342dup (p.Thr115fs) rs886041687
NM_001127178.3(PIGG):c.641A>G (p.His214Arg)
NM_001127178.3(PIGG):c.759+2T>C rs1720189292
NM_001127178.3(PIGG):c.768_769dup (p.Thr257fs) rs1229339759
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001134225.2(INPP4A):c.352_353del (p.Ser118fs) rs1574965220
NM_001134407.3(GRIN2A):c.728C>T (p.Ala243Val) rs2141631138
NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter) rs1732173818
NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter) rs1734625225
NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser) rs1444255127
NM_001144967.3(NEDD4L):c.2245A>G (p.Met749Val) rs2046707868
NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys)
NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln) rs2059194330
NM_001144967.3(NEDD4L):c.814-6T>A rs2059723813
NM_001145358.2(SIN3A):c.1261dup (p.Ser421fs) rs2141486160
NM_001145358.2(SIN3A):c.1526+1G>T
NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe) rs2073302769
NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His) rs1595897117
NM_001145358.2(SIN3A):c.2378T>C (p.Leu793Pro)
NM_001145358.2(SIN3A):c.240_252dup (p.His85delinsSerSerTer)
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter) rs2141424841
NM_001145358.2(SIN3A):c.2809_2810del (p.Lys937fs) rs1555443600
NM_001145358.2(SIN3A):c.2844_2847del (p.Lys948fs) rs1555443581
NM_001145358.2(SIN3A):c.2948dup (p.Arg984fs) rs2141415824
NM_001145358.2(SIN3A):c.3045_3046dup (p.Ile1016fs) rs2141396556
NM_001145358.2(SIN3A):c.3473dup (p.Asn1158fs) rs2141368718
NM_001145358.2(SIN3A):c.366+5T>C
NM_001145358.2(SIN3A):c.3785_3791del (p.Tyr1262fs)
NM_001145358.2(SIN3A):c.474-1G>A
NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter) rs1347764887
NM_001145536.2(C17orf107):c.*1010C>G rs774425374
NM_001145536.2(C17orf107):c.*368_*378del
NM_001163435.2(TBCK):c.2060-9050_2235+26133del
NM_001163435.3(TBCK):c.1170+1G>A rs765407874
NM_001163435.3(TBCK):c.1259T>A (p.Leu420Ter) rs2150010400
NM_001163435.3(TBCK):c.1351-1G>A rs1759337270
NM_001163435.3(TBCK):c.1584dup (p.Arg529Ter) rs1759036277
NM_001163435.3(TBCK):c.1854del (p.Pro619fs) rs1579257340
NM_001163435.3(TBCK):c.1860+2T>A
NM_001163435.3(TBCK):c.1888_1889del (p.Met630fs)
NM_001163435.3(TBCK):c.360_363del (p.His120fs) rs1560929669
NM_001163435.3(TBCK):c.468C>G (p.Tyr156Ter)
NM_001163435.3(TBCK):c.531dup (p.Pro178fs) rs1560911619
NM_001163435.3(TBCK):c.557A>G (p.Asp186Gly) rs2150065916
NM_001163435.3(TBCK):c.677T>A (p.Leu226Ter) rs758167759
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter) rs2151169266
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.21358del (p.Leu7120fs) rs1553678967
NM_001164508.2(NEB):c.10054_10055delinsT (p.Asp3352fs)
NM_001164508.2(NEB):c.10143+2T>G
NM_001164508.2(NEB):c.10144-2A>G rs1435980710
NM_001164508.2(NEB):c.10165C>T (p.Gln3389Ter)
NM_001164508.2(NEB):c.10169_10170insCT (p.Trp3390fs)
NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)
NM_001164508.2(NEB):c.10211_10212insCTAC (p.Val3405fs)
NM_001164508.2(NEB):c.10222A>T (p.Lys3408Ter)
NM_001164508.2(NEB):c.10234G>T (p.Glu3412Ter)
NM_001164508.2(NEB):c.10255_10256insGTCTCTTA (p.Tyr3419fs)
NM_001164508.2(NEB):c.10560+1G>A rs1553915731
NM_001164508.2(NEB):c.10598_10599del (p.His3533fs)
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001164508.2(NEB):c.10675C>G (p.Arg3559Gly) rs751938843
NM_001164508.2(NEB):c.10738_10742del (p.Gly3580fs)
NM_001164508.2(NEB):c.1082_1097del (p.Tyr361fs)
NM_001164508.2(NEB):c.10882A>T (p.Lys3628Ter)
NM_001164508.2(NEB):c.11077-1G>A rs1458096844
NM_001164508.2(NEB):c.11140G>T (p.Glu3714Ter)
NM_001164508.2(NEB):c.11181+2T>C rs1553904694
NM_001164508.2(NEB):c.11254C>T (p.Gln3752Ter)
NM_001164508.2(NEB):c.11269delinsATCAGCCTCGA (p.Ser3757fs)
NM_001164508.2(NEB):c.11289+1G>C rs1553901249
NM_001164508.2(NEB):c.11529del (p.His3844fs)
NM_001164508.2(NEB):c.1153-2A>T rs1553609515
NM_001164508.2(NEB):c.11602-2A>C rs1553891733
NM_001164508.2(NEB):c.11805+1G>A
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.11891del (p.Asn3964fs)
NM_001164508.2(NEB):c.11909_11910+4del rs1553886582
NM_001164508.2(NEB):c.11923A>T (p.Lys3975Ter)
NM_001164508.2(NEB):c.11969A>C (p.Asp3990Ala)
NM_001164508.2(NEB):c.11986del (p.Ser3996fs)
NM_001164508.2(NEB):c.12019-2A>G
NM_001164508.2(NEB):c.12330+1G>A rs1350840483
NM_001164508.2(NEB):c.12330+5G>A rs763163879
NM_001164508.2(NEB):c.12331-1G>A rs2097775442
NM_001164508.2(NEB):c.1254_1255del (p.Ser418fs)
NM_001164508.2(NEB):c.1257+2T>G rs2149365500
NM_001164508.2(NEB):c.12640-1G>A rs2097713999
NM_001164508.2(NEB):c.126T>A (p.Tyr42Ter)
NM_001164508.2(NEB):c.12747+2T>C
NM_001164508.2(NEB):c.12748-1G>A
NM_001164508.2(NEB):c.12748-1_12761del rs2153940927
NM_001164508.2(NEB):c.13060-2A>G rs2097571378
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001164508.2(NEB):c.13368+1G>A
NM_001164508.2(NEB):c.13369-2A>C
NM_001164508.2(NEB):c.13369-2A>G
NM_001164508.2(NEB):c.13369-2_13374del
NM_001164508.2(NEB):c.13476+1G>A rs1578868550
NM_001164508.2(NEB):c.13477-2A>G rs2153903681
NM_001164508.2(NEB):c.13477-2A>T
NM_001164508.2(NEB):c.1365+1G>T
NM_001164508.2(NEB):c.1366-2A>G rs1553607505
NM_001164508.2(NEB):c.1370_1386delinsTCTA (p.Asn457fs)
NM_001164508.2(NEB):c.13788+1G>A rs1553862061
NM_001164508.2(NEB):c.1415_1416insACATTCAAAGT (p.Gln473fs)
NM_001164508.2(NEB):c.1569+1G>A rs1553605553
NM_001164508.2(NEB):c.1569+1G>C
NM_001164508.2(NEB):c.1570-1G>C rs1390328608
NM_001164508.2(NEB):c.1570-2A>G rs1553603958
NM_001164508.2(NEB):c.1570-2_1574del rs1553603933
NM_001164508.2(NEB):c.1638dup (p.Ile547fs)
NM_001164508.2(NEB):c.1672_1674+2del rs1057516739
NM_001164508.2(NEB):c.1674+2T>C rs1553603437
NM_001164508.2(NEB):c.1675-2A>G
NM_001164508.2(NEB):c.1694G>A (p.Trp565Ter)
NM_001164508.2(NEB):c.17431-2A>T
NM_001164508.2(NEB):c.17535+1G>T rs2153749469
NM_001164508.2(NEB):c.17736+1G>A
NM_001164508.2(NEB):c.1782+1del rs1390897355
NM_001164508.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001164508.2(NEB):c.17953_18472-56del
NM_001164508.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer) rs1553601066
NM_001164508.2(NEB):c.18146_18156+7del
NM_001164508.2(NEB):c.18157-2A>G rs925947627
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
NM_001164508.2(NEB):c.18261+1G>A
NM_001164508.2(NEB):c.18261+1G>T rs112544116
NM_001164508.2(NEB):c.18366+2T>C rs2153729614
NM_001164508.2(NEB):c.18367-1_18367delinsAA rs1553770178
NM_001164508.2(NEB):c.18367-1_18370del rs1553770146
NM_001164508.2(NEB):c.18471+1G>C rs1553769576
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs) rs747282057
NM_001164508.2(NEB):c.18580-8_18608del
NM_001164508.2(NEB):c.18694-1G>A rs2153712182
NM_001164508.2(NEB):c.18694-2del rs1553763404
NM_001164508.2(NEB):c.18703_18704insT (p.Arg6235fs)
NM_001164508.2(NEB):c.18724A>T (p.Lys6242Ter)
NM_001164508.2(NEB):c.18769del (p.Ala6257fs)
NM_001164508.2(NEB):c.18774_18775del (p.Arg6259fs)
NM_001164508.2(NEB):c.18795_18796del (p.Ser6265fs)
NM_001164508.2(NEB):c.18809del (p.Arg6270fs)
NM_001164508.2(NEB):c.18839_18841delinsA (p.Leu6280fs)
NM_001164508.2(NEB):c.18900T>A (p.Tyr6300Ter)
NM_001164508.2(NEB):c.18937del (p.Tyr6313fs)
NM_001164508.2(NEB):c.18945G>A (p.Trp6315Ter)
NM_001164508.2(NEB):c.1897-1G>A rs1553593177
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter) rs761964375
NM_001164508.2(NEB):c.18996+2T>C rs1577636079
NM_001164508.2(NEB):c.19078_19079del (p.Gln6360fs)
NM_001164508.2(NEB):c.19101+1G>A
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.19106_19107del (p.Lys6369fs)
NM_001164508.2(NEB):c.19126_19151del (p.Gln6376fs) rs1553757097
NM_001164508.2(NEB):c.19168del (p.Tyr6390fs)
NM_001164508.2(NEB):c.19207-1G>A rs1553755829
NM_001164508.2(NEB):c.19307_19308del (p.Ala6436fs)
NM_001164508.2(NEB):c.19356T>A (p.Tyr6452Ter)
NM_001164508.2(NEB):c.19374delinsAC (p.Asp6459fs)
NM_001164508.2(NEB):c.19442C>A (p.Ser6481Ter)
NM_001164508.2(NEB):c.19626+1G>A rs756352186
NM_001164508.2(NEB):c.19836+1G>T rs1446930968
NM_001164508.2(NEB):c.19836+1del
NM_001164508.2(NEB):c.19843_19853del (p.Tyr6615fs)
NM_001164508.2(NEB):c.19879_19880insCCCCATGC (p.Val6627fs)
NM_001164508.2(NEB):c.19945-2A>C rs113473971
NM_001164508.2(NEB):c.19981G>T (p.Gly6661Ter)
NM_001164508.2(NEB):c.19983dup (p.Tyr6662fs)
NM_001164508.2(NEB):c.20049+2T>A
NM_001164508.2(NEB):c.20059A>T (p.Lys6687Ter)
NM_001164508.2(NEB):c.20157+1G>A
NM_001164508.2(NEB):c.20157+2T>C rs1553717306
NM_001164508.2(NEB):c.20158-1G>C rs1553715579
NM_001164508.2(NEB):c.20163_20164del (p.Tyr6722fs)
NM_001164508.2(NEB):c.20262+2T>C
NM_001164508.2(NEB):c.20262+2T>G rs2153617573
NM_001164508.2(NEB):c.20364_20365del (p.Ser6788fs)
NM_001164508.2(NEB):c.20390_20412del (p.Gln6797fs) rs1553710982
NM_001164508.2(NEB):c.20401G>T (p.Gly6801Ter) rs1405498595
NM_001164508.2(NEB):c.20467-1G>T rs760082702
NM_001164508.2(NEB):c.20514C>A (p.Tyr6838Ter) rs1242775893
NM_001164508.2(NEB):c.20578-2A>G
NM_001164508.2(NEB):c.20650_20651insCCTCT (p.Arg6884fs)
NM_001164508.2(NEB):c.2067T>A (p.Tyr689Ter)
NM_001164508.2(NEB):c.20682+1G>A rs1576819152
NM_001164508.2(NEB):c.20685T>A (p.Tyr6895Ter)
NM_001164508.2(NEB):c.20691T>A (p.Tyr6897Ter)
NM_001164508.2(NEB):c.20788-1G>A rs1553695557
NM_001164508.2(NEB):c.20813del (p.Lys6938fs)
NM_001164508.2(NEB):c.20875del (p.Tyr6959fs)
NM_001164508.2(NEB):c.20889dup (p.Asp6964Ter) rs1553694860
NM_001164508.2(NEB):c.2095C>T (p.Gln699Ter)
NM_001164508.2(NEB):c.20978_20985delinsG (p.Val6993fs)
NM_001164508.2(NEB):c.21093_21094del (p.Val7032fs) rs1553688242
NM_001164508.2(NEB):c.21102+2_21102+3del
NM_001164508.2(NEB):c.21103-1G>C
NM_001164508.2(NEB):c.21130del (p.Gly7046fs)
NM_001164508.2(NEB):c.21213del (p.Lys7071fs)
NM_001164508.2(NEB):c.21312+1G>A rs1553682994
NM_001164508.2(NEB):c.21313-1G>C rs2153515796
NM_001164508.2(NEB):c.21417+1G>A rs2153515061
NM_001164508.2(NEB):c.21418-1G>A rs2153501801
NM_001164508.2(NEB):c.2148C>A (p.Cys716Ter)
NM_001164508.2(NEB):c.21523-1G>T
NM_001164508.2(NEB):c.21624_21625insTTATACTTGACACCATG (p.Ser7209delinsLeuTyrLeuThrProTer)
NM_001164508.2(NEB):c.21630+1G>A rs1446706909
NM_001164508.2(NEB):c.21634A>T (p.Lys7212Ter)
NM_001164508.2(NEB):c.21735+1G>C rs2153475495
NM_001164508.2(NEB):c.21736-1G>T
NM_001164508.2(NEB):c.21736-2A>G rs1389892619
NM_001164508.2(NEB):c.21744T>A (p.Tyr7248Ter)
NM_001164508.2(NEB):c.21817A>T (p.Lys7273Ter)
NM_001164508.2(NEB):c.21945+1G>A
NM_001164508.2(NEB):c.21945+1G>C rs2153458564
NM_001164508.2(NEB):c.22048G>T (p.Glu7350Ter)
NM_001164508.2(NEB):c.22087C>T (p.Gln7363Ter) rs1553646540
NM_001164508.2(NEB):c.2211+1G>A rs1553586486
NM_001164508.2(NEB):c.2211+2T>A rs2149150540
NM_001164508.2(NEB):c.2212-2A>G rs1553580540
NM_001164508.2(NEB):c.22138del (p.Glu7380fs) rs1235589246
NM_001164508.2(NEB):c.22142_22143del (p.Val7381fs)
NM_001164508.2(NEB):c.22153del (p.Val7385fs)
NM_001164508.2(NEB):c.22161+1G>A rs112933443
NM_001164508.2(NEB):c.22162-5_22162-2del rs1553644243
NM_001164508.2(NEB):c.22272+1G>A
NM_001164508.2(NEB):c.22272+2_22272+3del rs2153447342
NM_001164508.2(NEB):c.22273-1G>A rs1553642332
NM_001164508.2(NEB):c.22287_22292delinsCGAT (p.Lys7429fs)
NM_001164508.2(NEB):c.22294_22295insCAGATTTA (p.Lys7432fs)
NM_001164508.2(NEB):c.2230_2231del (p.Pro744fs)
NM_001164508.2(NEB):c.22315dup (p.Thr7439fs)
NM_001164508.2(NEB):c.22353_22354insCA (p.Ala7452fs)
NM_001164508.2(NEB):c.22375-1G>C
NM_001164508.2(NEB):c.22375-2A>G rs2153437998
NM_001164508.2(NEB):c.22479+1del rs1488066635
NM_001164508.2(NEB):c.22480-1G>C
NM_001164508.2(NEB):c.22483A>T (p.Lys7495Ter)
NM_001164508.2(NEB):c.22500_22501del (p.Phe7500fs)
NM_001164508.2(NEB):c.22511del (p.Lys7504fs) rs2080623161
NM_001164508.2(NEB):c.22622delinsTT (p.His7541fs)
NM_001164508.2(NEB):c.22696-2A>C
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001164508.2(NEB):c.22800+2T>G rs1553627466
NM_001164508.2(NEB):c.22804A>T (p.Lys7602Ter)
NM_001164508.2(NEB):c.22939A>T (p.Lys7647Ter)
NM_001164508.2(NEB):c.2299C>T (p.Gln767Ter)
NM_001164508.2(NEB):c.23017-3_23017del
NM_001164508.2(NEB):c.23069_23072del (p.Glu7690fs)
NM_001164508.2(NEB):c.2310+2T>A rs1553579092
NM_001164508.2(NEB):c.2310+2_2310+3delinsAC
NM_001164508.2(NEB):c.23127+1G>A
NM_001164508.2(NEB):c.23127+2T>A
NM_001164508.2(NEB):c.23128-1G>T
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
NM_001164508.2(NEB):c.23162_23165delinsCAGATGTGTAT (p.Lys7721fs)
NM_001164508.2(NEB):c.23174_23187del (p.Leu7725fs)
NM_001164508.2(NEB):c.23186delinsGAATCA (p.Ala7729fs)
NM_001164508.2(NEB):c.23241+2T>A rs1553615846
NM_001164508.2(NEB):c.23242-2A>G
NM_001164508.2(NEB):c.2332G>T (p.Glu778Ter)
NM_001164508.2(NEB):c.23346+1G>A
NM_001164508.2(NEB):c.23346+2T>G
NM_001164508.2(NEB):c.23347-2A>G
NM_001164508.2(NEB):c.23378del (p.Met7793fs) rs1553603690
NM_001164508.2(NEB):c.23415dup (p.Gln7806fs) rs1553603438
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs) rs1553603400
NM_001164508.2(NEB):c.23451+1G>A
NM_001164508.2(NEB):c.23451+1G>C rs1011425121
NM_001164508.2(NEB):c.23452-1G>C
NM_001164508.2(NEB):c.23457dup (p.Tyr7820fs)
NM_001164508.2(NEB):c.23494dup (p.Thr7832fs)
NM_001164508.2(NEB):c.23502_23503del (p.Gln7835fs)
NM_001164508.2(NEB):c.23551del (p.Ser7851fs)
NM_001164508.2(NEB):c.23556+1G>T rs2153195911
NM_001164508.2(NEB):c.23556+2T>A
NM_001164508.2(NEB):c.23650-1G>A rs2153172016
NM_001164508.2(NEB):c.23650-2A>T
NM_001164508.2(NEB):c.23742+1G>A
NM_001164508.2(NEB):c.23743-1G>C rs797045098
NM_001164508.2(NEB):c.23834C>A (p.Ser7945Ter) rs755970391
NM_001164508.2(NEB):c.23835+1G>A rs781120931
NM_001164508.2(NEB):c.23835+2T>C
NM_001164508.2(NEB):c.23836-1G>A
NM_001164508.2(NEB):c.23836-2A>G rs2153104173
NM_001164508.2(NEB):c.2385del (p.Gln795fs) rs1553568167
NM_001164508.2(NEB):c.2388_2389del (p.His796fs)
NM_001164508.2(NEB):c.2391_2392del (p.Arg797fs) rs1057516938
NM_001164508.2(NEB):c.23929-1G>C rs2153074006
NM_001164508.2(NEB):c.23929-2A>C rs1553569122
NM_001164508.2(NEB):c.24022-1G>A rs1553561697
NM_001164508.2(NEB):c.24022-1_24029del rs1423137705
NM_001164508.2(NEB):c.24023_24026dup (p.Leu8009fs) rs1553561665
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs) rs772009599
NM_001164508.2(NEB):c.24039del (p.Asn8013fs) rs1553561525
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs) rs1553561211
NM_001164508.2(NEB):c.24114+1G>C
NM_001164508.2(NEB):c.24115-1G>A
NM_001164508.2(NEB):c.24115-2A>G rs2152992966
NM_001164508.2(NEB):c.24127_24130dup (p.Asn8044fs) rs1553556275
NM_001164508.2(NEB):c.2416-1G>C rs1553565278
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24207+2T>C rs1553555768
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.24275_24278dup (p.His8093fs) rs1553551748
NM_001164508.2(NEB):c.24277_24280dup (p.Asn8094fs) rs1553551650
NM_001164508.2(NEB):c.24297_24300+1del
NM_001164508.2(NEB):c.24301-1G>T
NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs) rs1553548771
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001164508.2(NEB):c.24305T>A (p.Leu8102Ter) rs1553548752
NM_001164508.2(NEB):c.24309C>A (p.Tyr8103Ter) rs1332061304
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.24377_24383del (p.Gln8126fs) rs1553548018
NM_001164508.2(NEB):c.2437G>T (p.Glu813Ter)
NM_001164508.2(NEB):c.24394-1G>A rs1421095081
NM_001164508.2(NEB):c.24394-1G>C
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001164508.2(NEB):c.24477_24480dup (p.Ser8161delinsTyrTer) rs797044606
NM_001164508.2(NEB):c.24487-1G>A
NM_001164508.2(NEB):c.24487-2A>G
NM_001164508.2(NEB):c.24487-6_24491del
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs) rs1553537512
NM_001164508.2(NEB):c.24579+1G>T rs2058584112
NM_001164508.2(NEB):c.24579+2T>C rs1039759571
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24580-1G>C rs1574772311
NM_001164508.2(NEB):c.24580-2A>G rs113290650
NM_001164508.2(NEB):c.24605_24606insCACTCAGC (p.Lys8202fs)
NM_001164508.2(NEB):c.24637G>T (p.Glu8213Ter) rs1553536267
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs) rs1357811155
NM_001164508.2(NEB):c.24662dup (p.Asn8221fs)
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer) rs794727136
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24672+1G>C
NM_001164508.2(NEB):c.24673-1G>A rs1574741105
NM_001164508.2(NEB):c.24673-1G>C
NM_001164508.2(NEB):c.24673-2A>C rs112687345
NM_001164508.2(NEB):c.24703dup (p.Thr8235fs)
NM_001164508.2(NEB):c.2472_2638-455del
NM_001164508.2(NEB):c.24730G>T (p.Glu8244Ter)
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.24765+1G>A rs2058028669
NM_001164508.2(NEB):c.24765+2T>A rs2152850167
NM_001164508.2(NEB):c.24766-9_24767del rs1553530144
NM_001164508.2(NEB):c.24873+2T>C
NM_001164508.2(NEB):c.24913_24914delinsA (p.Phe8305fs)
NM_001164508.2(NEB):c.24957_24958del (p.Asn8320fs)
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.24997C>T (p.Gln8333Ter)
NM_001164508.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001164508.2(NEB):c.25012delinsTA (p.Glu8338Ter) rs1553526619
NM_001164508.2(NEB):c.25057+1G>A rs1191429915
NM_001164508.2(NEB):c.25057+1G>C rs1191429915
NM_001164508.2(NEB):c.25057+1G>T rs1191429915
NM_001164508.2(NEB):c.25058-2A>C rs866309952
NM_001164508.2(NEB):c.25061del (p.Leu8354fs)
NM_001164508.2(NEB):c.25151-1G>T rs1553520609
NM_001164508.2(NEB):c.25158_25159del (p.Gln8387fs)
NM_001164508.2(NEB):c.25215_25216del (p.Glu8406fs)
NM_001164508.2(NEB):c.2523+2T>A rs2099513404
NM_001164508.2(NEB):c.25235_25297+90del
NM_001164508.2(NEB):c.2524-2A>G rs2148951277
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.25297+2del rs1553519860
NM_001164508.2(NEB):c.25298-2A>C
NM_001164508.2(NEB):c.25298-2A>G
NM_001164508.2(NEB):c.25340C>A (p.Ser8447Ter) rs1553519124
NM_001164508.2(NEB):c.25404+2T>A rs1553518813
NM_001164508.2(NEB):c.2549del (p.Lys850fs)
NM_001164508.2(NEB):c.2560_2561insTGAAATATTGATACAC (p.Lys854delinsMetLysTyrTer)
NM_001164508.2(NEB):c.2613_2614del (p.Lys872fs)
NM_001164508.2(NEB):c.2627del (p.Asn876fs)
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter) rs1553558398
NM_001164508.2(NEB):c.2716A>T (p.Lys906Ter)
NM_001164508.2(NEB):c.2751del (p.Asp916_Tyr917insTer) rs1553557405
NM_001164508.2(NEB):c.2762T>A (p.Leu921Ter)
NM_001164508.2(NEB):c.2835+1G>A
NM_001164508.2(NEB):c.2836-2A>G rs1208297049
NM_001164508.2(NEB):c.2882G>A (p.Trp961Ter)
NM_001164508.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001164508.2(NEB):c.2944-1G>A rs1553542669
NM_001164508.2(NEB):c.295-1G>T rs111300270
NM_001164508.2(NEB):c.2956C>T (p.Gln986Ter)
NM_001164508.2(NEB):c.3018_3019insCATCT (p.Ile1007fs)
NM_001164508.2(NEB):c.3042+1G>A rs2099408391
NM_001164508.2(NEB):c.3042+1G>T
NM_001164508.2(NEB):c.3043-1G>A rs113326313
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001164508.2(NEB):c.3147+1del rs1553539777
NM_001164508.2(NEB):c.3178_3179del (p.Ser1060fs)
NM_001164508.2(NEB):c.3181A>T (p.Lys1061Ter)
NM_001164508.2(NEB):c.3187G>T (p.Gly1063Ter)
NM_001164508.2(NEB):c.3252_3255+3del rs1559168230
NM_001164508.2(NEB):c.3255+1G>C rs375628303
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3255+1del rs1553538835
NM_001164508.2(NEB):c.3277G>T (p.Glu1093Ter)
NM_001164508.2(NEB):c.3328A>T (p.Lys1110Ter)
NM_001164508.2(NEB):c.3330del (p.Lys1110fs)
NM_001164508.2(NEB):c.3338_3339insATGTC (p.His1113fs)
NM_001164508.2(NEB):c.3382A>T (p.Lys1128Ter)
NM_001164508.2(NEB):c.3383_3384del (p.Lys1128fs)
NM_001164508.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer) rs1159756073
NM_001164508.2(NEB):c.3401del (p.Lys1134fs)
NM_001164508.2(NEB):c.3432_3433del (p.Phe1144fs)
NM_001164508.2(NEB):c.3448A>T (p.Lys1150Ter)
NM_001164508.2(NEB):c.3567+1G>A rs587780399
NM_001164508.2(NEB):c.3567+1G>C rs587780399
NM_001164508.2(NEB):c.36+1G>C rs1553711195
NM_001164508.2(NEB):c.3679A>T (p.Lys1227Ter)
NM_001164508.2(NEB):c.37-1G>C rs1428597732
NM_001164508.2(NEB):c.3774+2T>C rs1553531049
NM_001164508.2(NEB):c.3780_3782delinsT (p.Leu1260fs)
NM_001164508.2(NEB):c.3843del (p.Leu1282fs) rs2154199737
NM_001164508.2(NEB):c.3860dup (p.Asn1287fs)
NM_001164508.2(NEB):c.3872_3873insTCTAA (p.Ser1292fs)
NM_001164508.2(NEB):c.3880-1G>T rs1057516381
NM_001164508.2(NEB):c.3880-2A>G rs1342507012
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.3988-1G>A rs1553517128
NM_001164508.2(NEB):c.3988-2A>G rs924831918
NM_001164508.2(NEB):c.3997A>T (p.Lys1333Ter)
NM_001164508.2(NEB):c.402+1G>T
NM_001164508.2(NEB):c.403-1G>C
NM_001164508.2(NEB):c.403-2A>G
NM_001164508.2(NEB):c.403-6_405del rs1553689774
NM_001164508.2(NEB):c.4047_4048del (p.Gln1350fs)
NM_001164508.2(NEB):c.4066del (p.Val1356fs)
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4265_4266del (p.Glu1422fs)
NM_001164508.2(NEB):c.4299+4A>G rs781754253
NM_001164508.2(NEB):c.4300-1G>A
NM_001164508.2(NEB):c.4300-1G>C
NM_001164508.2(NEB):c.4300-2A>C rs1553512813
NM_001164508.2(NEB):c.4333A>T (p.Lys1445Ter)
NM_001164508.2(NEB):c.4506+1G>A rs112517981
NM_001164508.2(NEB):c.4506+2T>C
NM_001164508.2(NEB):c.4507-1G>A rs2154185810
NM_001164508.2(NEB):c.4507-2A>C rs1575668113
NM_001164508.2(NEB):c.4507-2A>G rs1575668113
NM_001164508.2(NEB):c.4515C>A (p.Tyr1505Ter)
NM_001164508.2(NEB):c.4538_4539delinsGGGT (p.Lys1513fs)
NM_001164508.2(NEB):c.4543A>T (p.Lys1515Ter)
NM_001164508.2(NEB):c.4545_4546insGTTATTT (p.Tyr1516fs)
NM_001164508.2(NEB):c.4555_4556del (p.Asp1519fs)
NM_001164508.2(NEB):c.4576_4580delinsTTT (p.Ile1526fs)
NM_001164508.2(NEB):c.4585A>T (p.Lys1529Ter)
NM_001164508.2(NEB):c.4611+1G>A rs1233792020
NM_001164508.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001164508.2(NEB):c.4656T>A (p.Tyr1552Ter)
NM_001164508.2(NEB):c.4661T>A (p.Leu1554Ter)
NM_001164508.2(NEB):c.4719+1G>A
NM_001164508.2(NEB):c.4719+2T>A
NM_001164508.2(NEB):c.4719+2T>C rs1553501889
NM_001164508.2(NEB):c.4729_4730insT (p.Lys1577fs)
NM_001164508.2(NEB):c.4765G>T (p.Gly1589Ter)
NM_001164508.2(NEB):c.4899_4903del (p.Val1634fs)
NM_001164508.2(NEB):c.4908_4912del (p.Ala1637fs)
NM_001164508.2(NEB):c.4916_4917insG (p.Ser1640fs)
NM_001164508.2(NEB):c.4922_4928del (p.Gln1641fs)
NM_001164508.2(NEB):c.498_507+18del
NM_001164508.2(NEB):c.4999del (p.His1667fs)
NM_001164508.2(NEB):c.5031+1G>A rs1553495140
NM_001164508.2(NEB):c.5031+2T>C rs2154178700
NM_001164508.2(NEB):c.507+1G>A rs1553689057
NM_001164508.2(NEB):c.507+2T>C
NM_001164508.2(NEB):c.508-1G>A
NM_001164508.2(NEB):c.5164A>T (p.Lys1722Ter)
NM_001164508.2(NEB):c.5170A>T (p.Lys1724Ter)
NM_001164508.2(NEB):c.5191dup (p.Thr1731fs)
NM_001164508.2(NEB):c.5236A>T (p.Lys1746Ter)
NM_001164508.2(NEB):c.5239-1G>A
NM_001164508.2(NEB):c.5269A>T (p.Lys1757Ter)
NM_001164508.2(NEB):c.527G>A (p.Trp176Ter)
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter) rs2154175437
NM_001164508.2(NEB):c.5343+5G>A rs2154175371
NM_001164508.2(NEB):c.5344-1G>A rs1197561990
NM_001164508.2(NEB):c.5434A>T (p.Arg1812Ter)
NM_001164508.2(NEB):c.5440_5441del (p.Ile1814fs)
NM_001164508.2(NEB):c.5451+1G>T
NM_001164508.2(NEB):c.5451+2_5451+11del rs1553487838
NM_001164508.2(NEB):c.5452-1G>A rs2154172894
NM_001164508.2(NEB):c.5452-2A>G rs1057517317
NM_001164508.2(NEB):c.5664del (p.Thr1889fs)
NM_001164508.2(NEB):c.5763+1G>A rs2154172204
NM_001164508.2(NEB):c.5764-2A>G
NM_001164508.2(NEB):c.5839A>T (p.Lys1947Ter)
NM_001164508.2(NEB):c.5983C>T (p.Gln1995Ter)
NM_001164508.2(NEB):c.6013_6015delinsT (p.His2005fs)
NM_001164508.2(NEB):c.6045_6048del (p.Ala2016fs)
NM_001164508.2(NEB):c.6075+1G>A rs1553472127
NM_001164508.2(NEB):c.6075+2T>G rs2154157623
NM_001164508.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001164508.2(NEB):c.612+1G>A rs1202331107
NM_001164508.2(NEB):c.613-1G>A rs767693366
NM_001164508.2(NEB):c.613-1G>C rs767693366
NM_001164508.2(NEB):c.613-2A>G rs752893483
NM_001164508.2(NEB):c.6183+1G>A rs557870969
NM_001164508.2(NEB):c.6183+1G>T
NM_001164508.2(NEB):c.6183+1del rs1553468960
NM_001164508.2(NEB):c.6183+2T>A rs1553468939
NM_001164508.2(NEB):c.6184-1G>A rs2154149413
NM_001164508.2(NEB):c.6208A>T (p.Lys2070Ter)
NM_001164508.2(NEB):c.624_627delinsAGCAGCACG (p.Glu209fs)
NM_001164508.2(NEB):c.632G>A (p.Trp211Ter)
NM_001164508.2(NEB):c.6353_6354insTTCATATT (p.Met2119fs)
NM_001164508.2(NEB):c.6356_6357del (p.Met2119fs)
NM_001164508.2(NEB):c.6411C>A (p.Tyr2137Ter)
NM_001164508.2(NEB):c.6427A>T (p.Lys2143Ter)
NM_001164508.2(NEB):c.6476_6477insTTATG (p.Met2159fs)
NM_001164508.2(NEB):c.6505A>T (p.Lys2169Ter)
NM_001164508.2(NEB):c.6615_6624del (p.Gln2206fs)
NM_001164508.2(NEB):c.6638delinsGTA (p.Phe2213fs)
NM_001164508.2(NEB):c.6644_6646delinsGACAG (p.Lys2215fs)
NM_001164508.2(NEB):c.6732_6736del (p.Lys2245fs)
NM_001164508.2(NEB):c.6808-2A>T rs1553457607
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer) rs1180339426
NM_001164508.2(NEB):c.6915+1G>A
NM_001164508.2(NEB):c.7042A>T (p.Lys2348Ter)
NM_001164508.2(NEB):c.7054A>T (p.Lys2352Ter)
NM_001164508.2(NEB):c.7058G>A (p.Trp2353Ter)
NM_001164508.2(NEB):c.7075_7078del (p.Ser2359fs)
NM_001164508.2(NEB):c.7146del (p.Asn2383fs)
NM_001164508.2(NEB):c.717+1G>A rs1577833924
NM_001164508.2(NEB):c.718-1G>A
NM_001164508.2(NEB):c.7227+2T>C rs1553448527
NM_001164508.2(NEB):c.7266_7268delinsTC (p.Gly2423fs) rs1057516348
NM_001164508.2(NEB):c.7329_7330del (p.Ser2443fs)
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter) rs2154134234
NM_001164508.2(NEB):c.7432-1G>A rs2154122716
NM_001164508.2(NEB):c.7432-2A>G rs1553990438
NM_001164508.2(NEB):c.7511_7512del (p.Lys2504fs)
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164508.2(NEB):c.7536+1G>A
NM_001164508.2(NEB):c.7537A>T (p.Lys2513Ter)
NM_001164508.2(NEB):c.7601_7602insCCCCAGCTCTCTCC (p.Ile2536fs)
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter) rs1373493309
NM_001164508.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer) rs1553983416
NM_001164508.2(NEB):c.7813del (p.Asp2605fs)
NM_001164508.2(NEB):c.7948del (p.Gln2650fs)
NM_001164508.2(NEB):c.7978_7979del (p.Gln2660fs)
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.8111_8112del (p.Asp2704fs)
NM_001164508.2(NEB):c.822+1G>A rs2099762097
NM_001164508.2(NEB):c.823-2A>G rs1553642811
NM_001164508.2(NEB):c.8233_8234del (p.Leu2745fs)
NM_001164508.2(NEB):c.8239A>T (p.Lys2747Ter)
NM_001164508.2(NEB):c.8240_8241del (p.Lys2747fs)
NM_001164508.2(NEB):c.8265+1G>A rs1131691547
NM_001164508.2(NEB):c.8265+1G>T
NM_001164508.2(NEB):c.8373+1G>A rs2154112865
NM_001164508.2(NEB):c.8374-1G>A rs1180407562
NM_001164508.2(NEB):c.8392_8395dup (p.Arg2799fs) rs765403861
NM_001164508.2(NEB):c.8554del (p.Val2852fs)
NM_001164508.2(NEB):c.8569A>T (p.Lys2857Ter)
NM_001164508.2(NEB):c.8638C>T (p.Gln2880Ter)
NM_001164508.2(NEB):c.8686-2A>G
NM_001164508.2(NEB):c.8697del (p.Lys2899fs)
NM_001164508.2(NEB):c.8750_8751insGCAGCAG (p.Asp2917fs)
NM_001164508.2(NEB):c.8834_8835del (p.Val2945fs)
NM_001164508.2(NEB):c.8860del (p.Ala2954fs) rs1553964158
NM_001164508.2(NEB):c.8887A>T (p.Lys2963Ter) rs1553963973
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001164508.2(NEB):c.8890-1G>A
NM_001164508.2(NEB):c.8994+1G>A rs2098817648
NM_001164508.2(NEB):c.8994+2T>C rs1553962493
NM_001164508.2(NEB):c.8995-1G>C
NM_001164508.2(NEB):c.9102+1G>A rs143644938
NM_001164508.2(NEB):c.9108del (p.Lys3036fs) rs1553948395
NM_001164508.2(NEB):c.9246G>A (p.Trp3082Ter) rs1553947423
NM_001164508.2(NEB):c.927+1G>A rs374562457
NM_001164508.2(NEB):c.931A>T (p.Lys311Ter)
NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter) rs193042896
NM_001164508.2(NEB):c.9414+1G>A rs1255445731
NM_001164508.2(NEB):c.9415-1G>A
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter) rs1553939806
NM_001164508.2(NEB):c.9440G>A (p.Trp3147Ter) rs1553939774
NM_001164508.2(NEB):c.9457dup (p.Trp3153fs) rs1553939660
NM_001164508.2(NEB):c.9459G>A (p.Trp3153Ter) rs1553939648
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001164508.2(NEB):c.9485del (p.Val3162fs) rs1553939284
NM_001164508.2(NEB):c.9576del (p.Glu3193fs) rs1553938571
NM_001164508.2(NEB):c.9619-1G>A rs1390379576
NM_001164508.2(NEB):c.9638G>A (p.Trp3213Ter)
NM_001164508.2(NEB):c.9662del (p.His3221fs)
NM_001164508.2(NEB):c.9667del (p.Met3223fs)
NM_001164508.2(NEB):c.9721G>T (p.Glu3241Ter)
NM_001164508.2(NEB):c.9723+1G>A rs113803601
NM_001164508.2(NEB):c.9724-1G>A rs1553934586
NM_001164508.2(NEB):c.9724-2A>G rs1553934597
NM_001164508.2(NEB):c.9729_9731delinsCT (p.Tyr3244fs)
NM_001164508.2(NEB):c.9775_9776del (p.Arg3259fs)
NM_001164508.2(NEB):c.9808_9809delinsTCTTTATGTT (p.Ala3270fs)
NM_001164508.2(NEB):c.9812C>T (p.Ser3271Phe)
NM_001164508.2(NEB):c.9831+1G>A rs1553933986
NM_001164508.2(NEB):c.985G>T (p.Glu329Ter)
NM_001164508.2(NEB):c.9943del (p.Asp3315fs) rs1553930053
NM_001171613.2(PREPL):c.-48-2A>G rs753545038
NM_001171613.2(PREPL):c.-48-2A>T
NM_001171613.2(PREPL):c.1086+2T>C
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter) rs1673549822
NM_001171613.2(PREPL):c.1412_1479+41del
NM_001171613.2(PREPL):c.1553G>A (p.Trp518Ter) rs1673169930
NM_001171613.2(PREPL):c.1753+2T>C
NM_001171613.2(PREPL):c.1827G>T (p.Lys609Asn)
NM_001171613.2(PREPL):c.350-1G>T
NM_001171613.2(PREPL):c.703-2A>G rs2103914962
NM_001171613.2(PREPL):c.981dup (p.Tyr328fs) rs1553354962
NM_001173464.2(KIF21A):c.2515C>T (p.Pro839Ser)
NM_001173464.2(KIF21A):c.706C>T (p.Gln236Ter) rs267603451
NM_001178035.2(CEP85L):c.57_60del (p.Ser20fs)
NM_001195553.2(DCX):c.1057C>T (p.Pro353Ser)
NM_001195553.2(DCX):c.171_182del (p.Phe57_Gly61delinsLeu)
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) rs104894779
NM_001195553.2(DCX):c.190T>A (p.Tyr64Asn) rs1556405129
NM_001195553.2(DCX):c.233G>T (p.Arg78Leu) rs104894784
NM_001195553.2(DCX):c.280A>G (p.Asn94Asp) rs797045512
NM_001195553.2(DCX):c.289C>G (p.Leu97Val) rs1928574753
NM_001195553.2(DCX):c.298G>C (p.Gly100Arg)
NM_001195553.2(DCX):c.302T>G (p.Val101Gly)
NM_001195553.2(DCX):c.478del (p.Gln160fs) rs2147263208
NM_001195553.2(DCX):c.536C>A (p.Pro179His)
NM_001195553.2(DCX):c.548C>T (p.Thr183Ile) rs2147263018
NM_001195553.2(DCX):c.665C>T (p.Thr222Ile) rs1603423268
NM_001195553.2(DCX):c.788A>G (p.Asp263Gly) rs1921404698
NM_001195553.2(DCX):c.808+1G>A rs1921403332
NM_001195553.2(DCX):c.809-1G>A rs587783589
NM_001195553.2(DCX):c.907C>T (p.Arg303Ter) rs587783592
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_001198800.3(ASCC1):c.213-8T>G
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.1105+1G>A rs1553389102
NM_001244710.2(GFPT1):c.1106-1G>T rs1670970306
NM_001244710.2(GFPT1):c.1526T>C (p.Met509Thr)
NM_001244710.2(GFPT1):c.398A>G (p.Lys133Arg)
NM_001244710.2(GFPT1):c.408+5G>A rs1558762013
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln) rs775399768
NM_001252024.2(TRPM1):c.1460T>A (p.Met487Lys) rs1596017653
NM_001252024.2(TRPM1):c.1623+1G>A rs2033825467
NM_001252024.2(TRPM1):c.282T>G (p.Tyr94Ter) rs372529012
NM_001252024.2(TRPM1):c.3104_3105dup (p.Val1036fs) rs754705612
NM_001252024.2(TRPM1):c.3496+2T>C rs773030662
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs) rs778390089
NM_001252024.2(TRPM1):c.4842del (p.Lys1615fs) rs2141098146
NM_001252024.2(TRPM1):c.773T>C (p.Leu258Pro) rs869312176
NM_001256789.3(CACNA1F):c.1234dup (p.Glu412fs)
NM_001256789.3(CACNA1F):c.149_156del (p.Arg50fs)
NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg) rs2065788651
NM_001256789.3(CACNA1F):c.2007del (p.Lys670fs)
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg) rs1249437161
NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp) rs2065717075
NM_001256789.3(CACNA1F):c.3481del (p.Arg1161fs)
NM_001256789.3(CACNA1F):c.4561C>G (p.Arg1521Gly) rs1335615080
NM_001256789.3(CACNA1F):c.465_466insGT (p.Ser156fs)
NM_001256789.3(CACNA1F):c.4827del (p.Leu1610fs)
NM_001256789.3(CACNA1F):c.818-820del rs2065854138
NM_001256850.1(TTN):c.86916dup (p.Val28973fs) rs730880365
NM_001267550.2(TTN):c.100018_100022dup (p.Leu33341fs)
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs) rs727503537
NM_001267550.2(TTN):c.100105C>T (p.Gln33369Ter) rs1553503201
NM_001267550.2(TTN):c.100112del (p.Thr33371fs)
NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs) rs1553503113
NM_001267550.2(TTN):c.100135G>T (p.Glu33379Ter) rs1691881913
NM_001267550.2(TTN):c.100161del (p.Ser33388fs)
NM_001267550.2(TTN):c.100169_100170del (p.Pro33389_Phe33390insTer)
NM_001267550.2(TTN):c.100171+1_100171+2insAAGAGTCCATTTGGAGGCAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_001267550.2(TTN):c.100172-1G>C rs2154137558
NM_001267550.2(TTN):c.100201_100205del (p.Ile33401fs)
NM_001267550.2(TTN):c.100229_100233del (p.Val33410fs)
NM_001267550.2(TTN):c.100325del (p.Val33442fs) rs1691525574
NM_001267550.2(TTN):c.100342C>T (p.Arg33448Ter)
NM_001267550.2(TTN):c.100367_100368insGA (p.Asn33456fs)
NM_001267550.2(TTN):c.100367_100368insT (p.Leu33457fs) rs2154137420
NM_001267550.2(TTN):c.100367del (p.Asn33456fs) rs2154137422
NM_001267550.2(TTN):c.100369del (p.Ile33458fs) rs2154137417
NM_001267550.2(TTN):c.100390G>T (p.Glu33464Ter) rs374920916
NM_001267550.2(TTN):c.100590C>G (p.Tyr33530Ter) rs1489832770
NM_001267550.2(TTN):c.100594C>T (p.Gln33532Ter)
NM_001267550.2(TTN):c.100641dup (p.Phe33548fs) rs2154137207
NM_001267550.2(TTN):c.100701_100702dup (p.Tyr33568fs) rs2154137167
NM_001267550.2(TTN):c.100723C>T (p.Gln33575Ter) rs2154137150
NM_001267550.2(TTN):c.100766-1G>T
NM_001267550.2(TTN):c.100766-2A>T rs1364779690
NM_001267550.2(TTN):c.100791_100792insGTGTACCTAAA (p.Thr33598fs) rs1691180795
NM_001267550.2(TTN):c.100883_100886dup (p.Trp33629fs)
NM_001267550.2(TTN):c.100906dup (p.Ile33636fs)
NM_001267550.2(TTN):c.100924_100940del (p.Tyr33642fs)
NM_001267550.2(TTN):c.100942_100944delinsT (p.Arg33648fs) rs1559050685
NM_001267550.2(TTN):c.100947del (p.Phe33650fs) rs1691117338
NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs) rs886041287
NM_001267550.2(TTN):c.101027del (p.Gly33676fs) rs2154136770
NM_001267550.2(TTN):c.101035C>T (p.Gln33679Ter) rs561471402
NM_001267550.2(TTN):c.101094_101097del (p.Ser33699fs) rs1691030502
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs) rs869312122
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) rs794729367
NM_001267550.2(TTN):c.101129G>A (p.Trp33710Ter)
NM_001267550.2(TTN):c.10115-1G>C rs2088245783
NM_001267550.2(TTN):c.101187T>A (p.Cys33729Ter)
NM_001267550.2(TTN):c.101207G>A (p.Trp33736Ter) rs2154136654
NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter) rs1559047711
NM_001267550.2(TTN):c.101230del (p.Glu33744fs) rs1575293252
NM_001267550.2(TTN):c.101247dup (p.Ile33750fs)
NM_001267550.2(TTN):c.101440del (p.Glu33814fs) rs1690880184
NM_001267550.2(TTN):c.101458_101459del (p.Met33820fs)
NM_001267550.2(TTN):c.101494dup (p.Ile33832fs) rs1559044465
NM_001267550.2(TTN):c.101567del (p.Asp33856fs) rs1690814987
NM_001267550.2(TTN):c.101627dup (p.Leu33876fs) rs1690787769
NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter) rs2154136345
NM_001267550.2(TTN):c.101665_101668del (p.Leu33888_Val33889insTer) rs2154136319
NM_001267550.2(TTN):c.101676dup (p.Glu33893Ter)
NM_001267550.2(TTN):c.101687C>A (p.Ser33896Ter) rs376813674
NM_001267550.2(TTN):c.101694dup (p.Asp33899Ter)
NM_001267550.2(TTN):c.101704G>T (p.Glu33902Ter)
NM_001267550.2(TTN):c.101728G>T (p.Glu33910Ter) rs943777958
NM_001267550.2(TTN):c.101757T>G (p.Tyr33919Ter)
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.101793_101794del (p.His33931fs)
NM_001267550.2(TTN):c.101920del (p.Leu33974fs) rs1690665406
NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter) rs1575283255
NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter) rs534613934
NM_001267550.2(TTN):c.101985dup (p.Thr33996fs)
NM_001267550.2(TTN):c.101992_101993del (p.Met33998fs)
NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter) rs869312068
NM_001267550.2(TTN):c.102057del (p.Asn34020fs) rs1690605753
NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter) rs1060500471
NM_001267550.2(TTN):c.102176_102177del (p.Lys34059fs)
NM_001267550.2(TTN):c.102205C>T (p.Gln34069Ter)
NM_001267550.2(TTN):c.102234_102237del (p.Arg34079fs) rs754731686
NM_001267550.2(TTN):c.102269_102270dup (p.Arg34091fs) rs751329439
NM_001267550.2(TTN):c.102289del (p.Thr34096_Leu34097insTer) rs2154135814
NM_001267550.2(TTN):c.102300del (p.Asp34101fs) rs2154135804
NM_001267550.2(TTN):c.102309_102310insCCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGACCTCAAC (p.Met34104delinsProAsnAlaArgTer) rs2154135797
NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter) rs1212204584
NM_001267550.2(TTN):c.102375del (p.Ala34126fs) rs2154135741
NM_001267550.2(TTN):c.102388_102397del (p.Val34130fs)
NM_001267550.2(TTN):c.102526C>T (p.Gln34176Ter)
NM_001267550.2(TTN):c.102537_102538del (p.Asn34179fs)
NM_001267550.2(TTN):c.102541G>T (p.Glu34181Ter)
NM_001267550.2(TTN):c.102549C>A (p.Tyr34183Ter)
NM_001267550.2(TTN):c.102585T>A (p.Tyr34195Ter) rs1690344942
NM_001267550.2(TTN):c.102630_102645dup (p.Gly34216delinsSerSerGlnTer) rs2154135556
NM_001267550.2(TTN):c.102718_102719del (p.Thr34240fs) rs1559031280
NM_001267550.2(TTN):c.102744del (p.Asp34249fs) rs2154135500
NM_001267550.2(TTN):c.102749del (p.Thr34250fs) rs2154135490
NM_001267550.2(TTN):c.102795TAA[1] (p.Asn34266del) rs886044414
NM_001267550.2(TTN):c.102796_102798delinsTATA (p.Asn34266fs) rs1060500589
NM_001267550.2(TTN):c.102872_102878del (p.Trp34291fs) rs2154135366
NM_001267550.2(TTN):c.102916A>T (p.Lys34306Ter) rs1575269011
NM_001267550.2(TTN):c.102937_102940dup (p.Gly34314fs) rs2154135311
NM_001267550.2(TTN):c.102953T>G (p.Leu34318Ter)
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del) rs878854378
NM_001267550.2(TTN):c.103021G>T (p.Glu34341Ter)
NM_001267550.2(TTN):c.103043_103044insA (p.Thr34349fs) rs1690115787
NM_001267550.2(TTN):c.103061del (p.Pro34354fs) rs1690111134
NM_001267550.2(TTN):c.103073_103076dup (p.Ser34359delinsArgTer) rs2154135223
NM_001267550.2(TTN):c.103155_103156del (p.Arg34385fs) rs1575265345
NM_001267550.2(TTN):c.103172dup (p.Pro34392fs)
NM_001267550.2(TTN):c.103189del (p.Glu34397fs) rs2154135131
NM_001267550.2(TTN):c.103317_103320del (p.Asn34440fs)
NM_001267550.2(TTN):c.103336del (p.Ser34446fs) rs1553491793
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter) rs1060500505
NM_001267550.2(TTN):c.103453G>T (p.Glu34485Ter) rs1575259969
NM_001267550.2(TTN):c.103459_103460del (p.Leu34487fs) rs1689940049
NM_001267550.2(TTN):c.103489C>T (p.Gln34497Ter)
NM_001267550.2(TTN):c.103518del (p.Ala34507fs) rs1553491220
NM_001267550.2(TTN):c.103580_103583dup (p.Glu34528fs)
NM_001267550.2(TTN):c.103620T>G (p.Tyr34540Ter)
NM_001267550.2(TTN):c.103638dup (p.Lys34547fs)
NM_001267550.2(TTN):c.103644T>G (p.Tyr34548Ter)
NM_001267550.2(TTN):c.103678A>T (p.Lys34560Ter)
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter) rs1553490574
NM_001267550.2(TTN):c.103710G>A (p.Trp34570Ter)
NM_001267550.2(TTN):c.103726_103727insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGATACGTG (p.Asp34576delinsGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysAspThrTer)
NM_001267550.2(TTN):c.103758_103759del (p.Arg34586fs) rs1689777278
NM_001267550.2(TTN):c.103765C>T (p.Gln34589Ter) rs749082693
NM_001267550.2(TTN):c.103814dup (p.Met34606fs)
NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter) rs2154134580
NM_001267550.2(TTN):c.103846_103849dup (p.Pro34617fs) rs2154134575
NM_001267550.2(TTN):c.103938_103939del (p.Phe34646fs) rs1689704657
NM_001267550.2(TTN):c.103943del (p.Tyr34648fs) rs1689700102
NM_001267550.2(TTN):c.104012T>G (p.Leu34671Ter)
NM_001267550.2(TTN):c.104069del (p.Gly34690fs) rs2154134397
NM_001267550.2(TTN):c.104081C>G (p.Ser34694Ter) rs886043279
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs) rs1689596670
NM_001267550.2(TTN):c.104170_104174del (p.Lys34724fs) rs2154134297
NM_001267550.2(TTN):c.104171_104172del (p.Lys34724fs) rs2154134302
NM_001267550.2(TTN):c.104242G>T (p.Glu34748Ter)
NM_001267550.2(TTN):c.104266A>T (p.Arg34756Ter)
NM_001267550.2(TTN):c.104302_104303del (p.Arg34768fs)
NM_001267550.2(TTN):c.104421_104425del (p.Arg34807fs) rs1689427568
NM_001267550.2(TTN):c.104484_104487dup (p.Ser34830fs)
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter) rs1553488049
NM_001267550.2(TTN):c.104609del (p.Asp34870fs)
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter) rs1057518003
NM_001267550.2(TTN):c.104666_104667del (p.Pro34889fs) rs1689304332
NM_001267550.2(TTN):c.104668dup (p.Val34890fs) rs2154133906
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal) rs1689265228
NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter) rs1559003939
NM_001267550.2(TTN):c.104779A>T (p.Lys34927Ter)
NM_001267550.2(TTN):c.104861_104876del (p.Pro34954fs) rs1402952523
NM_001267550.2(TTN):c.104953del (p.Ser34985fs) rs2154133695
NM_001267550.2(TTN):c.105161del (p.Pro35054fs)
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.105241del (p.Glu35081fs)
NM_001267550.2(TTN):c.105251C>G (p.Ser35084Ter)
NM_001267550.2(TTN):c.105288del (p.Ser35095_Tyr35096insTer)
NM_001267550.2(TTN):c.105296_105297del (p.Ser35099fs)
NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter) rs1558995457
NM_001267550.2(TTN):c.105428del (p.Gly35143fs) rs886042825
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter) rs886042795
NM_001267550.2(TTN):c.105486G>A (p.Trp35162Ter)
NM_001267550.2(TTN):c.105614del (p.Asn35205fs) rs2154133153
NM_001267550.2(TTN):c.105655C>T (p.Gln35219Ter)
NM_001267550.2(TTN):c.105703A>T (p.Lys35235Ter)
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)
NM_001267550.2(TTN):c.105791dup (p.Ser35265fs) rs1688794902
NM_001267550.2(TTN):c.105804_105805del (p.Glu35268fs)
NM_001267550.2(TTN):c.105810dup (p.Pro35271fs) rs1553484602
NM_001267550.2(TTN):c.105832C>T (p.Gln35278Ter)
NM_001267550.2(TTN):c.105854dup (p.Pro35286fs)
NM_001267550.2(TTN):c.105898del (p.Ile35300fs)
NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter) rs1575219172
NM_001267550.2(TTN):c.105997_105998del (p.Gln35333fs)
NM_001267550.2(TTN):c.106015del (p.Asp35339fs) rs1558988204
NM_001267550.2(TTN):c.106019del (p.Gly35340fs) rs727504482
NM_001267550.2(TTN):c.106049del (p.Thr35350fs) rs1250336644
NM_001267550.2(TTN):c.106117C>T (p.Gln35373Ter) rs778126842
NM_001267550.2(TTN):c.106157dup (p.Ser35387fs)
NM_001267550.2(TTN):c.106189C>T (p.Gln35397Ter)
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
NM_001267550.2(TTN):c.106374+1del rs763404256
NM_001267550.2(TTN):c.106374G>A (p.Lys35458=) rs2154132585
NM_001267550.2(TTN):c.106487dup (p.Asn35496fs) rs2154132395
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.106531G>C (p.Ala35511Pro)
NM_001267550.2(TTN):c.106698del (p.Ala35567fs)
NM_001267550.2(TTN):c.106740del (p.Ala35581fs) rs2154131505
NM_001267550.2(TTN):c.106768dup (p.His35590fs) rs1687796533
NM_001267550.2(TTN):c.106773_106780del (p.Glu35591fs)
NM_001267550.2(TTN):c.106828A>T (p.Lys35610Ter) rs753984036
NM_001267550.2(TTN):c.106928_106932del (p.Val35643fs)
NM_001267550.2(TTN):c.106978C>T (p.Gln35660Ter)
NM_001267550.2(TTN):c.106996C>T (p.Gln35666Ter) rs750660824
NM_001267550.2(TTN):c.107006del (p.His35669fs)
NM_001267550.2(TTN):c.107033dup (p.Ser35679fs) rs2154131263
NM_001267550.2(TTN):c.107065_107068del (p.Gln35689fs) rs2154131227
NM_001267550.2(TTN):c.107153dup (p.Asn35718fs)
NM_001267550.2(TTN):c.107202_107203del (p.Trp35735fs) rs1575189496
NM_001267550.2(TTN):c.107204G>A (p.Trp35735Ter)
NM_001267550.2(TTN):c.107223+1G>A rs876658102
NM_001267550.2(TTN):c.107223+2T>C
NM_001267550.2(TTN):c.107224-1G>C rs112720067
NM_001267550.2(TTN):c.107224-2A>G rs111401822
NM_001267550.2(TTN):c.107312_107315del (p.Lys35771fs)
NM_001267550.2(TTN):c.107312dup (p.Tyr35772fs) rs2154130897
NM_001267550.2(TTN):c.107322del (p.Lys35775fs) rs2154130886
NM_001267550.2(TTN):c.107343_107346del (p.Gln35782fs)
NM_001267550.2(TTN):c.107344C>T (p.Gln35782Ter)
NM_001267550.2(TTN):c.107351C>A (p.Ser35784Ter) rs1575185742
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter) rs1575185742
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.107460_107463dup (p.Gln35822fs) rs886042246
NM_001267550.2(TTN):c.107617G>T (p.Gly35873Ter)
NM_001267550.2(TTN):c.107644del (p.Ser35882fs) rs1179955071
NM_001267550.2(TTN):c.107789G>A (p.Trp35930Ter) rs1278698690
NM_001267550.2(TTN):c.107800G>T (p.Gly35934Ter) rs368277535
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) rs281864928
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) rs267607156
NM_001267550.2(TTN):c.107957T>C (p.Ile35986Thr) rs1060500541
NM_001267550.2(TTN):c.11709T>A (p.Cys3903Ter) rs2082478614
NM_001267550.2(TTN):c.11880dup (p.Val3961fs)
NM_001267550.2(TTN):c.12218_12222dup (p.Val4075fs)
NM_001267550.2(TTN):c.12319del (p.Leu4107fs) rs2154318463
NM_001267550.2(TTN):c.12850C>T (p.Gln4284Ter) rs2082282118
NM_001267550.2(TTN):c.12887C>A (p.Ser4296Ter)
NM_001267550.2(TTN):c.13058del (p.Pro4353fs) rs1408345511
NM_001267550.2(TTN):c.13085_13086del (p.Glu4362fs) rs2154317985
NM_001267550.2(TTN):c.13115del (p.Val4372fs) rs2154317965
NM_001267550.2(TTN):c.13117C>T (p.Gln4373Ter) rs1064793411
NM_001267550.2(TTN):c.13450del (p.Glu4484fs) rs2082158844
NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)
NM_001267550.2(TTN):c.13807del (p.Glu4603fs) rs1574066113
NM_001267550.2(TTN):c.13817_13818dup (p.Met4607fs)
NM_001267550.2(TTN):c.13898_13899del (p.Lys4633fs) rs2154317474
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter) rs1313233245
NM_001267550.2(TTN):c.13943_13947dup (p.Phe4650fs) rs767038068
NM_001267550.2(TTN):c.1398+1G>A
NM_001267550.2(TTN):c.14198G>A (p.Trp4733Ter) rs1574050861
NM_001267550.2(TTN):c.14245C>T (p.Arg4749Ter) rs1553934752
NM_001267550.2(TTN):c.14301C>A (p.Cys4767Ter)
NM_001267550.2(TTN):c.14310T>A (p.Tyr4770Ter)
NM_001267550.2(TTN):c.14372-2A>C rs747942388
NM_001267550.2(TTN):c.14372-2A>G
NM_001267550.2(TTN):c.15177_15181delinsAGTACT (p.Asp5059fs)
NM_001267550.2(TTN):c.15496+1G>T rs397517481
NM_001267550.2(TTN):c.17506dup (p.Gln5836fs)
NM_001267550.2(TTN):c.17967C>G (p.Tyr5989Ter) rs2154308240
NM_001267550.2(TTN):c.18718C>T (p.Arg6240Ter)
NM_001267550.2(TTN):c.19426+2T>A rs727505178
NM_001267550.2(TTN):c.19709_19710del (p.Val6570fs)
NM_001267550.2(TTN):c.20392A>T (p.Lys6798Ter) rs2154304590
NM_001267550.2(TTN):c.20449del (p.Ser6817fs) rs2079254006
NM_001267550.2(TTN):c.20836+1G>T
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter) rs727505277
NM_001267550.2(TTN):c.21961G>T (p.Glu7321Ter)
NM_001267550.2(TTN):c.2224del (p.Ser742fs) rs2093148818
NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro) rs1560689563
NM_001267550.2(TTN):c.22870G>T (p.Glu7624Ter)
NM_001267550.2(TTN):c.22973C>A (p.Ser7658Ter)
NM_001267550.2(TTN):c.23099-2A>G rs2154300788
NM_001267550.2(TTN):c.23998del (p.Ala8000fs) rs2154300048
NM_001267550.2(TTN):c.24611G>A (p.Trp8204Ter)
NM_001267550.2(TTN):c.25063+1G>A rs754247415
NM_001267550.2(TTN):c.25219C>T (p.Gln8407Ter)
NM_001267550.2(TTN):c.26067C>G (p.Tyr8689Ter) rs377125716
NM_001267550.2(TTN):c.26482G>T (p.Glu8828Ter) rs778206438
NM_001267550.2(TTN):c.26926del (p.Thr8975_Leu8976insTer) rs2154296486
NM_001267550.2(TTN):c.27329-1del
NM_001267550.2(TTN):c.28049C>A (p.Ser9350Ter)
NM_001267550.2(TTN):c.28174+1G>T rs1577824925
NM_001267550.2(TTN):c.28462+1G>T rs2076520917
NM_001267550.2(TTN):c.29542C>T (p.Arg9848Ter)
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.29863C>T (p.Arg9955Ter)
NM_001267550.2(TTN):c.29914C>T (p.Arg9972Ter)
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.31402C>T (p.Gln10468Ter)
NM_001267550.2(TTN):c.31519_31523dup (p.Gln10509fs) rs2154281189
NM_001267550.2(TTN):c.31762+1G>T
NM_001267550.2(TTN):c.32092C>T (p.Arg10698Ter) rs1396898734
NM_001267550.2(TTN):c.32274_32277del (p.Glu10759fs)
NM_001267550.2(TTN):c.32452G>T (p.Glu10818Ter)
NM_001267550.2(TTN):c.32470+2T>C
NM_001267550.2(TTN):c.32700dup (p.Glu10901fs)
NM_001267550.2(TTN):c.3283del (p.Glu1095fs)
NM_001267550.2(TTN):c.32887+1G>T rs546105899
NM_001267550.2(TTN):c.33418+2T>A rs779749654
NM_001267550.2(TTN):c.3425dup (p.Ile1143fs)
NM_001267550.2(TTN):c.34379-1G>C
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg) rs1554015228
NM_001267550.2(TTN):c.35123del (p.His11708fs)
NM_001267550.2(TTN):c.35321_35322del (p.Pro11774fs)
NM_001267550.2(TTN):c.35630-1G>C rs2154262004
NM_001267550.2(TTN):c.36003del (p.Phe12001fs)
NM_001267550.2(TTN):c.36267_36280+16del rs745871962
NM_001267550.2(TTN):c.36364+1G>C
NM_001267550.2(TTN):c.36365-1G>A rs577672565
NM_001267550.2(TTN):c.3664C>T (p.Gln1222Ter) rs1227198694
NM_001267550.2(TTN):c.3729+1G>A rs781562337
NM_001267550.2(TTN):c.38182A>T (p.Lys12728Ter)
NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter) rs750990843
NM_001267550.2(TTN):c.39212-1G>A
NM_001267550.2(TTN):c.39251del (p.Val13084fs)
NM_001267550.2(TTN):c.39709+1G>A
NM_001267550.2(TTN):c.39895+1G>A rs749931280
NM_001267550.2(TTN):c.40297+1G>A
NM_001267550.2(TTN):c.40437del (p.Lys13479fs)
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.4057_4058del (p.Val1353fs)
NM_001267550.2(TTN):c.40626dup (p.Pro13543fs) rs1553754743
NM_001267550.2(TTN):c.40652del (p.Pro13551fs)
NM_001267550.2(TTN):c.40663G>T (p.Glu13555Ter)
NM_001267550.2(TTN):c.40688_40689insT (p.Arg13565fs) rs2154238038
NM_001267550.2(TTN):c.40940dup (p.Thr13648fs)
NM_001267550.2(TTN):c.41406C>A (p.Cys13802Ter)
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.41885-3_41885del rs2154229192
NM_001267550.2(TTN):c.41937del (p.Glu13980fs)
NM_001267550.2(TTN):c.41941dup (p.Ser13981fs)
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter) rs2060187635
NM_001267550.2(TTN):c.42208C>T (p.Gln14070Ter) rs2154227697
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.42919_42923del (p.Lys14307fs) rs1060500566
NM_001267550.2(TTN):c.4293del (p.Met1432fs)
NM_001267550.2(TTN):c.43269del (p.Asp14423fs)
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter) rs776970935
NM_001267550.2(TTN):c.44294dup (p.Leu14766fs)
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) rs397517576
NM_001267550.2(TTN):c.45156T>A (p.Cys15052Ter) rs1060500487
NM_001267550.2(TTN):c.45383del (p.Asn15128fs)
NM_001267550.2(TTN):c.45459del (p.Arg15154fs)
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs) rs1131691910
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter) rs764654357
NM_001267550.2(TTN):c.46609C>T (p.Gln15537Ter) rs1131691528
NM_001267550.2(TTN):c.46816G>T (p.Glu15606Ter)
NM_001267550.2(TTN):c.46843dup (p.Thr15615fs) rs1553712292
NM_001267550.2(TTN):c.46865del (p.Phe15622fs)
NM_001267550.2(TTN):c.46986dup (p.Asn15663Ter) rs2154209578
NM_001267550.2(TTN):c.47040del (p.Glu15680fs) rs2057734561
NM_001267550.2(TTN):c.47112G>A (p.Trp15704Ter)
NM_001267550.2(TTN):c.47142_47143del (p.Cys15714_Glu15715delinsTer) rs869312107
NM_001267550.2(TTN):c.47143_47146dup (p.Phe15716Ter) rs1422071853
NM_001267550.2(TTN):c.47195dup (p.Ser15733fs)
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47269+2T>C rs1060500419
NM_001267550.2(TTN):c.47285del (p.Pro15762fs)
NM_001267550.2(TTN):c.47379C>A (p.Tyr15793Ter)
NM_001267550.2(TTN):c.47379C>G (p.Tyr15793Ter)
NM_001267550.2(TTN):c.47384_47385insCT (p.Glu15796fs)
NM_001267550.2(TTN):c.47398_47402dup (p.Ser15802fs)
NM_001267550.2(TTN):c.47407del (p.Ile15803fs) rs2154209120
NM_001267550.2(TTN):c.47414G>A (p.Trp15805Ter)
NM_001267550.2(TTN):c.47487C>A (p.Tyr15829Ter) rs2057643696
NM_001267550.2(TTN):c.47487_47488del (p.Tyr15829_Ser15830delinsTer) rs1447249014
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter) rs397517589
NM_001267550.2(TTN):c.47512C>T (p.Arg15838Ter) rs762271078
NM_001267550.2(TTN):c.47573-1G>A
NM_001267550.2(TTN):c.47573-1G>C
NM_001267550.2(TTN):c.47576_47577delGA rs1060500489
NM_001267550.2(TTN):c.47579del (p.Pro15860fs) rs2154208767
NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter) rs886044009
NM_001267550.2(TTN):c.47639G>A (p.Trp15880Ter)
NM_001267550.2(TTN):c.47660_47663del (p.Gly15887fs)
NM_001267550.2(TTN):c.47674_47680dup (p.Tyr15894fs)
NM_001267550.2(TTN):c.47688del (p.Ile15896fs)
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) rs775186117
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) rs373040154
NM_001267550.2(TTN):c.47701G>T (p.Glu15901Ter) rs530338718
NM_001267550.2(TTN):c.47708_47709del (p.Lys15903fs)
NM_001267550.2(TTN):c.47760+1G>A rs2154208642
NM_001267550.2(TTN):c.47761-2A>T
NM_001267550.2(TTN):c.47786_47789del (p.Lys15929fs) rs2154208514
NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter) rs2057499255
NM_001267550.2(TTN):c.47808del (p.Glu15937fs)
NM_001267550.2(TTN):c.47885dup (p.Met15963fs) rs2057454001
NM_001267550.2(TTN):c.47894T>A (p.Leu15965Ter) rs878982457
NM_001267550.2(TTN):c.47988G>A (p.Trp15996Ter)
NM_001267550.2(TTN):c.48002_48006dup (p.Leu16003fs) rs2154208302
NM_001267550.2(TTN):c.48110T>A (p.Leu16037Ter)
NM_001267550.2(TTN):c.48142del (p.Ile16048fs)
NM_001267550.2(TTN):c.48157_48158del (p.Ile16053fs) rs2154208239
NM_001267550.2(TTN):c.48160+1G>A rs779498825
NM_001267550.2(TTN):c.48167del (p.Pro16056fs) rs1443466576
NM_001267550.2(TTN):c.48177del (p.Glu16061fs)
NM_001267550.2(TTN):c.48181G>T (p.Glu16061Ter)
NM_001267550.2(TTN):c.48223_48227dup (p.Trp16076Ter)
NM_001267550.2(TTN):c.48227_48229delinsAAA (p.Trp16076_Glu16077delinsTer) rs1553706971
NM_001267550.2(TTN):c.48229del (p.Glu16077fs)
NM_001267550.2(TTN):c.48233del (p.Pro16078fs)
NM_001267550.2(TTN):c.48248_48251del (p.Gly16083fs)
NM_001267550.2(TTN):c.48264del (p.Gly16089fs) rs2154208052
NM_001267550.2(TTN):c.48305G>A (p.Trp16102Ter)
NM_001267550.2(TTN):c.48312+2T>C rs2057367803
NM_001267550.2(TTN):c.48313-1G>A rs2154207046
NM_001267550.2(TTN):c.48320_48323dup (p.Phe16108fs)
NM_001267550.2(TTN):c.48369dup (p.Glu16124fs) rs1553705557
NM_001267550.2(TTN):c.48379_48382del (p.Phe16127fs) rs1064796347
NM_001267550.2(TTN):c.48433G>T (p.Glu16145Ter)
NM_001267550.2(TTN):c.48461-1G>A rs2154206288
NM_001267550.2(TTN):c.48461-2A>C rs1553705079
NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter) rs1312425985
NM_001267550.2(TTN):c.48502del (p.Thr16168fs)
NM_001267550.2(TTN):c.48521T>G (p.Leu16174Ter)
NM_001267550.2(TTN):c.48542dup (p.Asn16181fs) rs1576472316
NM_001267550.2(TTN):c.48550_48553dup (p.Ser16185fs) rs2154205990
NM_001267550.2(TTN):c.48605G>A (p.Trp16202Ter)
NM_001267550.2(TTN):c.48606G>A (p.Trp16202Ter)
NM_001267550.2(TTN):c.48629del (p.Ala16210fs) rs2057135958
NM_001267550.2(TTN):c.48634del (p.Thr16212fs) rs2154205763
NM_001267550.2(TTN):c.48638+1del
NM_001267550.2(TTN):c.48698dup (p.Asn16233fs) rs2057026455
NM_001267550.2(TTN):c.48759del (p.Glu16254fs) rs2057015875
NM_001267550.2(TTN):c.48760+1G>A
NM_001267550.2(TTN):c.48760+1G>C
NM_001267550.2(TTN):c.48760+1G>T
NM_001267550.2(TTN):c.48760+2T>C
NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)
NM_001267550.2(TTN):c.48767dup (p.Glu16257fs)
NM_001267550.2(TTN):c.48808_48809del (p.Val16270fs)
NM_001267550.2(TTN):c.48832del (p.Leu16278fs)
NM_001267550.2(TTN):c.48913_48916dup (p.Thr16306fs)
NM_001267550.2(TTN):c.48963_48966del (p.Ser16321fs) rs1553703310
NM_001267550.2(TTN):c.49004dup (p.Asn16335fs) rs1576461647
NM_001267550.2(TTN):c.49011_49012del (p.Cys16337fs)
NM_001267550.2(TTN):c.49048+1G>A
NM_001267550.2(TTN):c.49049-1G>C rs868064056
NM_001267550.2(TTN):c.49049-2A>C
NM_001267550.2(TTN):c.49101_49102del (p.Cys16368fs) rs1576457869
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter) rs570046043
NM_001267550.2(TTN):c.49187_49191dup (p.Trp16398fs)
NM_001267550.2(TTN):c.49345+1G>T
NM_001267550.2(TTN):c.49345+2T>C rs1559805633
NM_001267550.2(TTN):c.49346-1G>A rs869312070
NM_001267550.2(TTN):c.49413G>A (p.Trp16471Ter) rs202094100
NM_001267550.2(TTN):c.49500C>A (p.Cys16500Ter)
NM_001267550.2(TTN):c.49525dup (p.Thr16509fs) rs2154201255
NM_001267550.2(TTN):c.49533-1G>C
NM_001267550.2(TTN):c.49533-2A>G
NM_001267550.2(TTN):c.49648+1G>A
NM_001267550.2(TTN):c.49648+1G>T
NM_001267550.2(TTN):c.49649-2A>T rs2154200803
NM_001267550.2(TTN):c.49666G>T (p.Gly16556Ter)
NM_001267550.2(TTN):c.49685del (p.Asp16562fs)
NM_001267550.2(TTN):c.49700C>A (p.Ser16567Ter)
NM_001267550.2(TTN):c.49749dup (p.Glu16584Ter) rs2056619632
NM_001267550.2(TTN):c.49758T>G (p.Tyr16586Ter) rs72677247
NM_001267550.2(TTN):c.49793G>A (p.Trp16598Ter)
NM_001267550.2(TTN):c.4979T>G (p.Leu1660Ter)
NM_001267550.2(TTN):c.49858G>T (p.Glu16620Ter) rs1553699454
NM_001267550.2(TTN):c.49863C>A (p.Tyr16621Ter) rs1553699440
NM_001267550.2(TTN):c.49863C>G (p.Tyr16621Ter) rs794729264
NM_001267550.2(TTN):c.49874_49877dup (p.Arg16626delinsSerTer) rs2056596896
NM_001267550.2(TTN):c.49948+2T>G
NM_001267550.2(TTN):c.49948+2_49948+10del rs2056581815
NM_001267550.2(TTN):c.49949-1G>T
NM_001267550.2(TTN):c.49964del (p.Pro16655fs)
NM_001267550.2(TTN):c.49970G>A (p.Trp16657Ter) rs2154200456
NM_001267550.2(TTN):c.50016G>A (p.Trp16672Ter) rs2154200433
NM_001267550.2(TTN):c.50074_50075del (p.Asp16692fs) rs1060500513
NM_001267550.2(TTN):c.50094G>A (p.Trp16698Ter)
NM_001267550.2(TTN):c.50095C>T (p.Gln16699Ter) rs2056504499
NM_001267550.2(TTN):c.50098dup (p.Thr16700fs)
NM_001267550.2(TTN):c.50163T>G (p.Tyr16721Ter)
NM_001267550.2(TTN):c.50281_50284del (p.Val16761fs)
NM_001267550.2(TTN):c.50316G>A (p.Trp16772Ter) rs1433307898
NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter) rs72677249
NM_001267550.2(TTN):c.50467C>T (p.Gln16823Ter)
NM_001267550.2(TTN):c.50467_50468del (p.Gln16823fs)
NM_001267550.2(TTN):c.50487_50490dup (p.Glu16831delinsLysTer) rs1553696967
NM_001267550.2(TTN):c.50552-1G>A
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) rs397517601
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter) rs2056330918
NM_001267550.2(TTN):c.50692A>T (p.Lys16898Ter)
NM_001267550.2(TTN):c.50723del (p.Lys16908fs)
NM_001267550.2(TTN):c.50746del (p.Glu16916fs)
NM_001267550.2(TTN):c.50787_50788del (p.Arg16929fs)
NM_001267550.2(TTN):c.50857+1G>A rs2154199718
NM_001267550.2(TTN):c.50859C>A (p.Cys16953Ter) rs2154199623
NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter) rs794729268
NM_001267550.2(TTN):c.50914_50918del (p.Leu16972fs) rs2056249919
NM_001267550.2(TTN):c.50994_50997dup (p.Arg17000Ter) rs1413836585
NM_001267550.2(TTN):c.51037G>T (p.Glu17013Ter) rs1060500500
NM_001267550.2(TTN):c.51060dup (p.Asp17021fs) rs2154199483
NM_001267550.2(TTN):c.51136+1del rs2154199433
NM_001267550.2(TTN):c.51193A>T (p.Lys17065Ter)
NM_001267550.2(TTN):c.51203_51224dup (p.Thr17077_Pro17078insSerArgIleTerGlyThr) rs2154198963
NM_001267550.2(TTN):c.51229_51230del (p.Thr17077fs) rs2056008282
NM_001267550.2(TTN):c.51234_51237dup (p.Leu17080fs) rs1553693444
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) rs906494713
NM_001267550.2(TTN):c.51444del (p.Asp17149fs) rs1362409861
NM_001267550.2(TTN):c.51449del (p.Pro17150fs) rs2055912067
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs) rs886043718
NM_001267550.2(TTN):c.51524dup (p.Gly17176fs)
NM_001267550.2(TTN):c.51525del (p.Ser17177fs) rs1553692435
NM_001267550.2(TTN):c.51544_51545del (p.Tyr17182fs)
NM_001267550.2(TTN):c.51574G>T (p.Glu17192Ter)
NM_001267550.2(TTN):c.51576_51577del (p.Arg17193fs) rs2154198710
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer) rs1553692107
NM_001267550.2(TTN):c.51648del (p.Glu17217fs) rs1553692140
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter) rs1060500503
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter) rs748956593
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.51782del (p.Arg17261fs) rs2154198520
NM_001267550.2(TTN):c.51804_51805insCCAGTGCTATG (p.Ala17269fs) rs2154198510
NM_001267550.2(TTN):c.51833_51848del (p.Thr17278fs) rs794729391
NM_001267550.2(TTN):c.51834_51838dup (p.Thr17280fs) rs2154198494
NM_001267550.2(TTN):c.51843G>A (p.Trp17281Ter) rs1559759828
NM_001267550.2(TTN):c.51870del (p.Glu17291fs) rs1553691320
NM_001267550.2(TTN):c.51871G>T (p.Glu17291Ter)
NM_001267550.2(TTN):c.51913A>T (p.Lys17305Ter)
NM_001267550.2(TTN):c.51913_51916del (p.Lys17305fs) rs747513278
NM_001267550.2(TTN):c.51919G>T (p.Glu17307Ter) rs2154198436
NM_001267550.2(TTN):c.51925C>T (p.Gln17309Ter)
NM_001267550.2(TTN):c.51931G>T (p.Glu17311Ter) rs2154198430
NM_001267550.2(TTN):c.51958C>T (p.Gln17320Ter) rs2055753321
NM_001267550.2(TTN):c.51965dup (p.Leu17322fs)
NM_001267550.2(TTN):c.52063_52064insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATNNNNNNNNNNNNGAAAATGACC (p.Asp17354_His17355insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspXaaXaaXaaXaaGluAsnAsp) rs2154198326
NM_001267550.2(TTN):c.52077A>T (p.Lys17359Asn) rs1167384081
NM_001267550.2(TTN):c.52103-1G>A rs2154197995
NM_001267550.2(TTN):c.52150dup (p.Thr17384fs) rs2154197954
NM_001267550.2(TTN):c.52226_52227del (p.Lys17409fs) rs2055549415
NM_001267550.2(TTN):c.52226_52229del (p.Lys17409fs) rs727503615
NM_001267550.2(TTN):c.52233_52237del (p.Lys17413fs) rs2055544893
NM_001267550.2(TTN):c.52316_52317dup (p.Glu17440fs)
NM_001267550.2(TTN):c.52317dup (p.Glu17440fs)
NM_001267550.2(TTN):c.52358del (p.Pro17453fs) rs2154197774
NM_001267550.2(TTN):c.52405+1G>T
NM_001267550.2(TTN):c.52405+2T>C
NM_001267550.2(TTN):c.52473G>A (p.Trp17491Ter) rs794729271
NM_001267550.2(TTN):c.52499_52504delinsAGTAA (p.Pro17500_Leu17502delinsGlnTer) rs1559748217
NM_001267550.2(TTN):c.52512C>G (p.Tyr17504Ter) rs1559748120
NM_001267550.2(TTN):c.52546del (p.Trp17516fs)
NM_001267550.2(TTN):c.52551del (p.Arg17518fs)
NM_001267550.2(TTN):c.52567del (p.Leu17523fs)
NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer) rs1064792915
NM_001267550.2(TTN):c.52604T>G (p.Leu17535Ter)
NM_001267550.2(TTN):c.52619_52620del (p.Tyr17540fs)
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
NM_001267550.2(TTN):c.52706-1G>C rs2055351447
NM_001267550.2(TTN):c.52706-1G>T
NM_001267550.2(TTN):c.52731_52732del (p.Arg17577fs) rs878854315
NM_001267550.2(TTN):c.52736del (p.Thr17579fs) rs2154197312
NM_001267550.2(TTN):c.52767dup (p.Trp17590fs) rs2154197298
NM_001267550.2(TTN):c.52778del (p.Pro17593fs)
NM_001267550.2(TTN):c.52801del (p.Ile17601fs) rs2154197283
NM_001267550.2(TTN):c.52825del (p.Gln17609fs) rs2055323171
NM_001267550.2(TTN):c.52847G>A (p.Trp17616Ter) rs2055319182
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter) rs2154197219
NM_001267550.2(TTN):c.52924_52930dup (p.Val17644fs) rs2055292474
NM_001267550.2(TTN):c.52975C>T (p.Gln17659Ter) rs2154197188
NM_001267550.2(TTN):c.53003-1G>C rs2154197076
NM_001267550.2(TTN):c.53012_53030del (p.Ala17671fs)
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)
NM_001267550.2(TTN):c.53041G>T (p.Gly17681Ter)
NM_001267550.2(TTN):c.53047C>T (p.Gln17683Ter) rs2154197059
NM_001267550.2(TTN):c.53068_53069del (p.Thr17689_Leu17690insTer) rs2154197040
NM_001267550.2(TTN):c.53182G>T (p.Glu17728Ter)
NM_001267550.2(TTN):c.53206C>T (p.Arg17736Ter) rs571702144
NM_001267550.2(TTN):c.53259del (p.Lys17753fs) rs1389777522
NM_001267550.2(TTN):c.53287+1G>A rs1064794266
NM_001267550.2(TTN):c.53315_53316del (p.Lys17772fs) rs2154196835
NM_001267550.2(TTN):c.53354G>A (p.Trp17785Ter)
NM_001267550.2(TTN):c.53359del (p.Asp17787fs) rs2055103568
NM_001267550.2(TTN):c.53374G>T (p.Gly17792Ter) rs2055101555
NM_001267550.2(TTN):c.53456_53457del (p.Arg17819fs)
NM_001267550.2(TTN):c.53526del (p.Lys17842fs) rs2154196732
NM_001267550.2(TTN):c.53564_53581+6del
NM_001267550.2(TTN):c.53581+1del
NM_001267550.2(TTN):c.53582-1G>A rs2054612323
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.53602_53603del (p.Arg17868fs)
NM_001267550.2(TTN):c.53616del (p.Glu17873fs)
NM_001267550.2(TTN):c.53703dup (p.Arg17902fs) rs1576340321
NM_001267550.2(TTN):c.53770del (p.Val17924fs) rs1559723763
NM_001267550.2(TTN):c.53789_53790del (p.His17930fs)
NM_001267550.2(TTN):c.53824G>T (p.Glu17942Ter) rs2054564830
NM_001267550.2(TTN):c.53831del (p.Gly17944fs)
NM_001267550.2(TTN):c.53848dup (p.Leu17950fs) rs1553682760
NM_001267550.2(TTN):c.53914C>T (p.Arg17972Ter)
NM_001267550.2(TTN):c.53997dup (p.Trp18000fs)
NM_001267550.2(TTN):c.54000G>A (p.Trp18000Ter) rs72646813
NM_001267550.2(TTN):c.54037del (p.Ala18013fs)
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54228del (p.Asp18076fs)
NM_001267550.2(TTN):c.54257G>A (p.Trp18086Ter) rs2154195201
NM_001267550.2(TTN):c.54314_54381+139delinsATAAGG rs1576327348
NM_001267550.2(TTN):c.54320dup (p.Ser18108fs) rs2054384043
NM_001267550.2(TTN):c.54378T>A (p.Tyr18126Ter) rs769624146
NM_001267550.2(TTN):c.54387G>A (p.Trp18129Ter) rs1576323463
NM_001267550.2(TTN):c.54427del (p.Ala18143fs)
NM_001267550.2(TTN):c.54481C>T (p.Gln18161Ter) rs2054207747
NM_001267550.2(TTN):c.54500_54509del (p.Pro18167fs)
NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)
NM_001267550.2(TTN):c.54529del (p.Ala18177fs)
NM_001267550.2(TTN):c.54560G>A (p.Trp18187Ter) rs794729274
NM_001267550.2(TTN):c.54588_54589del (p.Pro18197fs)
NM_001267550.2(TTN):c.54605G>A (p.Trp18202Ter) rs2154194712
NM_001267550.2(TTN):c.54620_54624del (p.Glu18207fs) rs2054170313
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter) rs397517620
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)
NM_001267550.2(TTN):c.5477del (p.Gly1826fs) rs2154346135
NM_001267550.2(TTN):c.54793del (p.Val18265fs) rs2154194616
NM_001267550.2(TTN):c.54809dup (p.Phe18271fs) rs1553679072
NM_001267550.2(TTN):c.54811+1G>A rs1205836993
NM_001267550.2(TTN):c.54812-1G>C
NM_001267550.2(TTN):c.54812-1G>T rs1416873295
NM_001267550.2(TTN):c.54856A>T (p.Lys18286Ter)
NM_001267550.2(TTN):c.54957G>A (p.Trp18319Ter) rs2053697356
NM_001267550.2(TTN):c.54999dup (p.Cys18334fs)
NM_001267550.2(TTN):c.55036A>T (p.Arg18346Ter) rs2053680009
NM_001267550.2(TTN):c.55117C>T (p.Gln18373Ter) rs2053658622
NM_001267550.2(TTN):c.55119del (p.Glu18374fs) rs2154193527
NM_001267550.2(TTN):c.55120_55120+3del
NM_001267550.2(TTN):c.55121-1G>A rs1576297857
NM_001267550.2(TTN):c.55129_55130insC (p.Glu18377fs) rs2154193431
NM_001267550.2(TTN):c.55153C>T (p.Gln18385Ter) rs1559696193
NM_001267550.2(TTN):c.55156_55165del (p.Asp18386fs) rs1553674975
NM_001267550.2(TTN):c.55168del (p.Cys18390fs)
NM_001267550.2(TTN):c.55173dup (p.Ala18392fs) rs2154193411
NM_001267550.2(TTN):c.55235G>A (p.Trp18412Ter) rs2053599652
NM_001267550.2(TTN):c.55269+1del rs2154193352
NM_001267550.2(TTN):c.55366_55372dup (p.Ser18458fs)
NM_001267550.2(TTN):c.55399C>T (p.Gln18467Ter) rs2154193077
NM_001267550.2(TTN):c.55403dup (p.Thr18469fs)
NM_001267550.2(TTN):c.55425dup (p.Val18476fs)
NM_001267550.2(TTN):c.55432+1G>A rs2053485503
NM_001267550.2(TTN):c.55432+1G>T
NM_001267550.2(TTN):c.55460_55461del (p.Lys18487fs) rs1064796230
NM_001267550.2(TTN):c.55541_55542del (p.Tyr18514fs) rs1218695159
NM_001267550.2(TTN):c.55578G>A (p.Trp18526Ter)
NM_001267550.2(TTN):c.55639C>T (p.Gln18547Ter) rs2053403381
NM_001267550.2(TTN):c.55719del (p.Arg18574fs) rs2154192801
NM_001267550.2(TTN):c.55728del (p.Ile18577fs)
NM_001267550.2(TTN):c.55734T>A (p.Tyr18578Ter) rs2154192691
NM_001267550.2(TTN):c.55755dup (p.Leu18586fs) rs2154192678
NM_001267550.2(TTN):c.55796C>A (p.Ser18599Ter) rs2053315643
NM_001267550.2(TTN):c.55802_55803del (p.Lys18601fs)
NM_001267550.2(TTN):c.55808dup (p.Lys18604fs)
NM_001267550.2(TTN):c.55884_55887del (p.Glu18629fs) rs2154192604
NM_001267550.2(TTN):c.55885G>T (p.Glu18629Ter)
NM_001267550.2(TTN):c.55927C>T (p.Gln18643Ter)
NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter) rs764985774
NM_001267550.2(TTN):c.56050+1G>A
NM_001267550.2(TTN):c.56052C>A (p.Cys18684Ter)
NM_001267550.2(TTN):c.56089G>T (p.Glu18697Ter) rs1391010387
NM_001267550.2(TTN):c.56122del (p.Ile18708fs) rs2154191490
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter) rs1477101279
NM_001267550.2(TTN):c.56200_56215dup (p.Asn18739delinsIleTer)
NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter) rs1559669986
NM_001267550.2(TTN):c.56275_56276dup (p.Gly18760fs)
NM_001267550.2(TTN):c.56286dup (p.Thr18763fs) rs2154191397
NM_001267550.2(TTN):c.56287_56288dup (p.Ile18764fs)
NM_001267550.2(TTN):c.56347+1G>A rs1576251664
NM_001267550.2(TTN):c.56347+31_56395del
NM_001267550.2(TTN):c.56348-1G>A rs2052685102
NM_001267550.2(TTN):c.56387_56388del (p.Ser18796fs)
NM_001267550.2(TTN):c.56401C>T (p.Gln18801Ter)
NM_001267550.2(TTN):c.56417G>A (p.Trp18806Ter) rs2154191239
NM_001267550.2(TTN):c.56487del (p.Lys18830fs)
NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter) rs1576247054
NM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs) rs1294679653
NM_001267550.2(TTN):c.56584C>T (p.Gln18862Ter)
NM_001267550.2(TTN):c.56598del (p.Ile18867fs) rs1553664644
NM_001267550.2(TTN):c.56645del (p.Phe18882fs) rs2052619475
NM_001267550.2(TTN):c.56647+1G>A rs397517624
NM_001267550.2(TTN):c.56679dup (p.Ser18894Ter) rs2052563186
NM_001267550.2(TTN):c.56715G>A (p.Trp18905Ter)
NM_001267550.2(TTN):c.56741del (p.Ser18914fs) rs1553663867
NM_001267550.2(TTN):c.56759G>A (p.Trp18920Ter) rs2154190939
NM_001267550.2(TTN):c.56783C>A (p.Ser18928Ter) rs1576240126
NM_001267550.2(TTN):c.56790_56792dup (p.Trp18931Ter)
NM_001267550.2(TTN):c.56792G>A (p.Trp18931Ter) rs1060500526
NM_001267550.2(TTN):c.56794A>T (p.Lys18932Ter) rs2154190918
NM_001267550.2(TTN):c.56795del (p.Lys18932fs)
NM_001267550.2(TTN):c.56830_56831del (p.Leu18944fs)
NM_001267550.2(TTN):c.56853del (p.Gly18952fs) rs794729392
NM_001267550.2(TTN):c.56900_56901del (p.Asn18967fs)
NM_001267550.2(TTN):c.56933C>G (p.Ser18978Ter)
NM_001267550.2(TTN):c.56941_56957del (p.Ala18981fs) rs2154190805
NM_001267550.2(TTN):c.56949del (p.Arg18984fs)
NM_001267550.2(TTN):c.56962+1G>A
NM_001267550.2(TTN):c.56999G>A (p.Trp19000Ter)
NM_001267550.2(TTN):c.57008C>A (p.Ser19003Ter) rs878854318
NM_001267550.2(TTN):c.57030del (p.Pro19012fs) rs2154190616
NM_001267550.2(TTN):c.57035dup (p.Leu19013fs) rs1553662457
NM_001267550.2(TTN):c.57041_57044del (p.Lys19014fs)
NM_001267550.2(TTN):c.57057del (p.Lys19019_Val19020insTer) rs1553662326
NM_001267550.2(TTN):c.57069C>G (p.Tyr19023Ter)
NM_001267550.2(TTN):c.57111_57111+9del rs1553661994
NM_001267550.2(TTN):c.57112-1G>A rs2154190178
NM_001267550.2(TTN):c.57112-1G>C rs2154190178
NM_001267550.2(TTN):c.57115A>T (p.Lys19039Ter)
NM_001267550.2(TTN):c.57230_57231del (p.Val19077fs)
NM_001267550.2(TTN):c.57233_57234del (p.Thr19078fs)
NM_001267550.2(TTN):c.57250A>T (p.Lys19084Ter) rs2052181050
NM_001267550.2(TTN):c.57277C>T (p.Gln19093Ter)
NM_001267550.2(TTN):c.57295_57296insC (p.Arg19099fs) rs2154189974
NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter) rs1553659902
NM_001267550.2(TTN):c.57345T>A (p.Tyr19115Ter)
NM_001267550.2(TTN):c.57354_57364del (p.Lys19119fs)
NM_001267550.2(TTN):c.57363del (p.Pro19122fs) rs2154189911
NM_001267550.2(TTN):c.57388G>T (p.Glu19130Ter) rs1553659628
NM_001267550.2(TTN):c.57494_57495insTC (p.Lys19166fs)
NM_001267550.2(TTN):c.57544+1G>A rs2052045274
NM_001267550.2(TTN):c.57545-2A>G
NM_001267550.2(TTN):c.57558del (p.Val19187fs) rs1576186406
NM_001267550.2(TTN):c.57692G>A (p.Trp19231Ter) rs267599044
NM_001267550.2(TTN):c.57710_57711del (p.Thr19237fs)
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter) rs2051361827
NM_001267550.2(TTN):c.57746_57749del (p.Ile19249fs)
NM_001267550.2(TTN):c.57748C>T (p.Gln19250Ter)
NM_001267550.2(TTN):c.57854del (p.Pro19285fs)
NM_001267550.2(TTN):c.57897del (p.Asn19299fs) rs2051003587
NM_001267550.2(TTN):c.57998_57999del (p.Lys19333fs)
NM_001267550.2(TTN):c.58033del (p.Thr19345fs) rs2154187247
NM_001267550.2(TTN):c.58095dup (p.Gly19366fs)
NM_001267550.2(TTN):c.58117dup (p.Cys19373fs)
NM_001267550.2(TTN):c.58151-2A>G rs2154187087
NM_001267550.2(TTN):c.58176del (p.Phe19392fs)
NM_001267550.2(TTN):c.58208del (p.Ala19403fs) rs2154187038
NM_001267550.2(TTN):c.58228del (p.Tyr19410fs)
NM_001267550.2(TTN):c.58244del (p.Lys19415fs)
NM_001267550.2(TTN):c.58252del (p.Val19418fs)
NM_001267550.2(TTN):c.58258del (p.Trp19420fs) rs2050888713
NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter) rs869025544
NM_001267550.2(TTN):c.58260G>A (p.Trp19420Ter)
NM_001267550.2(TTN):c.58304_58317del (p.Ile19435fs) rs2154186968
NM_001267550.2(TTN):c.58327del (p.Ala19443fs)
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs) rs2050860445
NM_001267550.2(TTN):c.58388del (p.Asn19463fs) rs2050854171
NM_001267550.2(TTN):c.58390del (p.Ser19464fs) rs2154186900
NM_001267550.2(TTN):c.58413_58414del (p.Phe19471fs) rs2154186876
NM_001267550.2(TTN):c.58417C>T (p.Gln19473Ter)
NM_001267550.2(TTN):c.58432+2T>C rs796197320
NM_001267550.2(TTN):c.58474_58480del (p.Val19492fs)
NM_001267550.2(TTN):c.58545T>A (p.Tyr19515Ter) rs1195475569
NM_001267550.2(TTN):c.58568del (p.Gly19523fs) rs1553650442
NM_001267550.2(TTN):c.58581G>A (p.Trp19527Ter) rs2154186640
NM_001267550.2(TTN):c.58620del (p.Val19541fs) rs1576147786
NM_001267550.2(TTN):c.58799G>A (p.Trp19600Ter)
NM_001267550.2(TTN):c.58850del (p.Lys19617fs) rs2050657361
NM_001267550.2(TTN):c.58858_58859del (p.Thr19620fs) rs2154186303
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.58874G>A (p.Trp19625Ter) rs1553649122
NM_001267550.2(TTN):c.59109_59112dup (p.Arg19705fs) rs1553648246
NM_001267550.2(TTN):c.59127del (p.Ser19710fs) rs2050559188
NM_001267550.2(TTN):c.59132del (p.Lys19711fs)
NM_001267550.2(TTN):c.59158C>T (p.Gln19720Ter)
NM_001267550.2(TTN):c.59174_59175del (p.Glu19725fs)
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913
NM_001267550.2(TTN):c.59201dup (p.Pro19734_Glu19735insTer) rs2154185983
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.59397dup (p.Val19800fs)
NM_001267550.2(TTN):c.59402del (p.Gly19801fs) rs1064793367
NM_001267550.2(TTN):c.59411dup (p.Arg19805fs) rs755261062
NM_001267550.2(TTN):c.59451dup (p.Val19818fs)
NM_001267550.2(TTN):c.59458del (p.Trp19820fs)
NM_001267550.2(TTN):c.59466dup (p.Glu19823fs) rs2154185712
NM_001267550.2(TTN):c.59531_59570dup (p.Leu19857delinsPheSerTer) rs1064792914
NM_001267550.2(TTN):c.59535del (p.Asn19846fs) rs1559602980
NM_001267550.2(TTN):c.59570_59571insTTTTTTTTTTNNNNNNNNNNCAGATGGAAATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCCGGAATTTATTCTTT (p.Leu19857fs) rs2154185645
NM_001267550.2(TTN):c.59583_59599dup (p.Thr19867fs) rs2154185625
NM_001267550.2(TTN):c.59598_59599dup (p.Thr19867fs) rs2154185622
NM_001267550.2(TTN):c.59647_59648del (p.Asp19883fs) rs878854322
NM_001267550.2(TTN):c.59730del (p.Asn19911fs)
NM_001267550.2(TTN):c.59763del (p.Ser19921fs) rs1559599859
NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)
NM_001267550.2(TTN):c.59802del (p.Ser19935fs)
NM_001267550.2(TTN):c.59841C>A (p.Tyr19947Ter) rs1413760246
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.59903del (p.Pro19968fs) rs2154185335
NM_001267550.2(TTN):c.59906_59924delinsAA (p.Ile19969fs) rs2050313754
NM_001267550.2(TTN):c.59917del (p.Asp19973fs) rs2050315855
NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter) rs1085307825
NM_001267550.2(TTN):c.59994G>A (p.Trp19998Ter) rs2154185221
NM_001267550.2(TTN):c.59997del (p.Asn19999fs) rs2154185219
NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter)
NM_001267550.2(TTN):c.60121C>T (p.Gln20041Ter) rs794729277
NM_001267550.2(TTN):c.60258del (p.Gly20087fs) rs2154184977
NM_001267550.2(TTN):c.60263_60264del (p.Leu20088fs) rs1559592415
NM_001267550.2(TTN):c.60284_60285del (p.Thr20095fs) rs1553644362
NM_001267550.2(TTN):c.60348del (p.Ser20117fs)
NM_001267550.2(TTN):c.60359_60371del (p.Lys20120fs) rs2154184904
NM_001267550.2(TTN):c.60433_60434dup (p.Asp20145fs)
NM_001267550.2(TTN):c.60442dup (p.Glu20148fs)
NM_001267550.2(TTN):c.60447T>G (p.Tyr20149Ter) rs1553644047
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs) rs2154184873
NM_001267550.2(TTN):c.60457_60460del (p.Val20153fs)
NM_001267550.2(TTN):c.60493dup (p.His20165fs)
NM_001267550.2(TTN):c.60565_60566del (p.Met20189fs)
NM_001267550.2(TTN):c.60581del (p.Gln20194fs) rs1559589139
NM_001267550.2(TTN):c.60621del (p.Asn20206_Tyr20207insTer) rs1060500442
NM_001267550.2(TTN):c.60760del (p.Val20254fs) rs2050086519
NM_001267550.2(TTN):c.60801_60802insTAAA (p.Lys20268Ter)
NM_001267550.2(TTN):c.60831del (p.Lys20277fs) rs2050068938
NM_001267550.2(TTN):c.60853dup (p.Glu20285fs) rs2154184643
NM_001267550.2(TTN):c.60865dup (p.Thr20289fs) rs1553643260
NM_001267550.2(TTN):c.60918C>G (p.Tyr20306Ter)
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.60961_60962dup (p.Asn20321fs)
NM_001267550.2(TTN):c.60993_60994del (p.Arg20331fs) rs2154184570
NM_001267550.2(TTN):c.61009G>T (p.Glu20337Ter) rs2050024892
NM_001267550.2(TTN):c.61012G>T (p.Gly20338Ter)
NM_001267550.2(TTN):c.61024_61028del (p.Tyr20341_Glu20342insTer)
NM_001267550.2(TTN):c.61079del (p.Ser20360fs)
NM_001267550.2(TTN):c.61269del (p.Asp20424fs) rs1060500420
NM_001267550.2(TTN):c.61290T>A (p.Cys20430Ter)
NM_001267550.2(TTN):c.61297del (p.Arg20433fs) rs2154184377
NM_001267550.2(TTN):c.61323dup (p.Glu20442Ter)
NM_001267550.2(TTN):c.61324G>T (p.Glu20442Ter) rs751412533
NM_001267550.2(TTN):c.61367del (p.Gly20456fs) rs2154184341
NM_001267550.2(TTN):c.61369G>T (p.Glu20457Ter) rs2049944547
NM_001267550.2(TTN):c.61394_61395del (p.Val20465fs) rs2154184320
NM_001267550.2(TTN):c.61515del (p.Glu20505fs) rs2154184240
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.61614del (p.Ala20539fs)
NM_001267550.2(TTN):c.61655del (p.Lys20552fs)
NM_001267550.2(TTN):c.61675C>T (p.Gln20559Ter)
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter) rs1114167324
NM_001267550.2(TTN):c.61757_61758del (p.Cys20586fs) rs1264036094
NM_001267550.2(TTN):c.61765dup (p.Ser20589fs)
NM_001267550.2(TTN):c.61830dup (p.Pro20611fs) rs2154184083
NM_001267550.2(TTN):c.61847G>A (p.Trp20616Ter) rs1576077909
NM_001267550.2(TTN):c.61850C>G (p.Ser20617Ter) rs2154184066
NM_001267550.2(TTN):c.61977del (p.Ile20660fs) rs2154183984
NM_001267550.2(TTN):c.62075del (p.Pro20692fs) rs2154183927
NM_001267550.2(TTN):c.62109T>A (p.Tyr20703Ter) rs2154183898
NM_001267550.2(TTN):c.62128_63102delinsGA (p.Lys20710fs) rs2049572412
NM_001267550.2(TTN):c.62129dup (p.Ser20712fs) rs886039913
NM_001267550.2(TTN):c.62131_62135dup (p.Asp20713fs)
NM_001267550.2(TTN):c.62184C>A (p.Tyr20728Ter)
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.62251dup (p.Glu20751fs)
NM_001267550.2(TTN):c.62302A>T (p.Lys20768Ter)
NM_001267550.2(TTN):c.62337_62340del (p.Thr20780fs) rs2154183737
NM_001267550.2(TTN):c.62374_62378del (p.Ala20791_Gly20792insTer)
NM_001267550.2(TTN):c.62408G>A (p.Trp20803Ter)
NM_001267550.2(TTN):c.62409G>A (p.Trp20803Ter)
NM_001267550.2(TTN):c.62477C>G (p.Ser20826Ter)
NM_001267550.2(TTN):c.62493dup (p.Thr20832fs)
NM_001267550.2(TTN):c.62519dup (p.Gly20840_Lys20841insTer)
NM_001267550.2(TTN):c.62525_62526del (p.Tyr20842fs)
NM_001267550.2(TTN):c.62526T>G (p.Tyr20842Ter) rs2049710031
NM_001267550.2(TTN):c.62530_62531del (p.Val20844fs)
NM_001267550.2(TTN):c.62533_62534insGTTGGAAGTTA (p.Thr20845fs)
NM_001267550.2(TTN):c.62597del (p.Gly20866fs) rs1576066084
NM_001267550.2(TTN):c.62642_62648del (p.Cys20881fs)
NM_001267550.2(TTN):c.62655G>A (p.Trp20885Ter) rs2049677875
NM_001267550.2(TTN):c.62708_62709insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAA (p.Lys20903_Cys20904insAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.62742T>G (p.Tyr20914Ter)
NM_001267550.2(TTN):c.62810_62813dup (p.Arg20939fs)
NM_001267550.2(TTN):c.62854del (p.Ser20952fs) rs2154183406
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.62911G>T (p.Glu20971Ter)
NM_001267550.2(TTN):c.62922del (p.Lys20974_Val20975insTer) rs2154183349
NM_001267550.2(TTN):c.62935G>T (p.Glu20979Ter) rs1306891128
NM_001267550.2(TTN):c.62966del (p.Tyr20989fs)
NM_001267550.2(TTN):c.62978dup (p.Ser20994fs) rs2154183322
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) rs368452607
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs) rs1559561666
NM_001267550.2(TTN):c.63081dup (p.Leu21028fs)
NM_001267550.2(TTN):c.63094del (p.His21032fs)
NM_001267550.2(TTN):c.63096del (p.His21032fs)
NM_001267550.2(TTN):c.63234del (p.Lys21078fs)
NM_001267550.2(TTN):c.63255G>A (p.Trp21085Ter) rs1553638539
NM_001267550.2(TTN):c.63270T>G (p.Tyr21090Ter) rs878991431
NM_001267550.2(TTN):c.63303_63304delinsTT (p.Glu21102Ter)
NM_001267550.2(TTN):c.63367dup (p.Ala21123fs) rs2154182688
NM_001267550.2(TTN):c.63390_63393del (p.Phe21130fs)
NM_001267550.2(TTN):c.63413_63420dup (p.Tyr21141fs)
NM_001267550.2(TTN):c.63422_63423dup (p.Glu21142fs)
NM_001267550.2(TTN):c.63504del (p.Ile21168_Leu21169insTer) rs2154182600
NM_001267550.2(TTN):c.63526_63527del (p.Leu21176fs) rs2154182483
NM_001267550.2(TTN):c.63546dup (p.Leu21183fs)
NM_001267550.2(TTN):c.63577dup (p.Arg21193fs) rs2154182439
NM_001267550.2(TTN):c.63578del (p.Arg21193fs) rs2154182432
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter) rs794729279
NM_001267550.2(TTN):c.63675del (p.Asp21226fs) rs2154182357
NM_001267550.2(TTN):c.63722delinsAA (p.Ser21241Ter) rs2049307995
NM_001267550.2(TTN):c.63747del (p.Asn21250fs)
NM_001267550.2(TTN):c.63754del (p.Ala21252fs) rs2154182312
NM_001267550.2(TTN):c.63793+1G>A rs2154182296
NM_001267550.2(TTN):c.63794-1G>A rs2049262622
NM_001267550.2(TTN):c.63801del (p.Pro21269fs) rs1553636843
NM_001267550.2(TTN):c.63845C>G (p.Ser21282Ter)
NM_001267550.2(TTN):c.63851_63864del (p.His21284fs)
NM_001267550.2(TTN):c.63879del (p.Asp21293fs) rs2154182119
NM_001267550.2(TTN):c.63982del (p.Thr21328fs)
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.64033G>T (p.Glu21345Ter)
NM_001267550.2(TTN):c.64082C>A (p.Ser21361Ter)
NM_001267550.2(TTN):c.64093+1G>A
NM_001267550.2(TTN):c.64094-1G>C rs2154181635
NM_001267550.2(TTN):c.64094-2A>G rs876657667
NM_001267550.2(TTN):c.64216A>T (p.Arg21406Ter) rs2049052530
NM_001267550.2(TTN):c.64222G>T (p.Glu21408Ter) rs1576015923
NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter)
NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter) rs794729329
NM_001267550.2(TTN):c.64287del (p.Gly21430fs) rs2049038862
NM_001267550.2(TTN):c.64297del (p.Glu21433fs) rs1576014780
NM_001267550.2(TTN):c.64314del (p.Lys21438fs) rs2154181503
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter) rs1576014673
NM_001267550.2(TTN):c.64352T>A (p.Leu21451Ter) rs777425925
NM_001267550.2(TTN):c.64396+2T>C rs2154181458
NM_001267550.2(TTN):c.64423C>T (p.Gln21475Ter)
NM_001267550.2(TTN):c.64427_64428dup (p.Thr21477Ter) rs1559536156
NM_001267550.2(TTN):c.64443dup (p.Lys21482fs)
NM_001267550.2(TTN):c.64506dup (p.Gly21503fs)
NM_001267550.2(TTN):c.64516G>T (p.Glu21506Ter)
NM_001267550.2(TTN):c.64518del (p.Val21507fs) rs2154180376
NM_001267550.2(TTN):c.64577dup (p.Asp21528fs) rs2048654277
NM_001267550.2(TTN):c.64583_64592dup (p.Arg21531_Lys21532insCysAspTer) rs2154180338
NM_001267550.2(TTN):c.64594_64601del (p.Lys21532fs)
NM_001267550.2(TTN):c.64655_64659dup (p.Val21554fs)
NM_001267550.2(TTN):c.64672+1G>A rs2048635392
NM_001267550.2(TTN):c.64672+2T>A
NM_001267550.2(TTN):c.64672+2T>C rs2154180290
NM_001267550.2(TTN):c.64672+2dup
NM_001267550.2(TTN):c.64673-1G>A rs2154180190
NM_001267550.2(TTN):c.64673-2A>G rs2154180194
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs) rs794729330
NM_001267550.2(TTN):c.64688_64689insA (p.Gln21564fs) rs2154180169
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001267550.2(TTN):c.64688dup (p.Gln21564fs) rs774395395
NM_001267550.2(TTN):c.64708del (p.Ser21570fs) rs2048590205
NM_001267550.2(TTN):c.64742G>A (p.Trp21581Ter) rs1057523344
NM_001267550.2(TTN):c.64752_64756del (p.Leu21585fs)
NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)
NM_001267550.2(TTN):c.64843dup (p.Thr21615fs) rs2048567077
NM_001267550.2(TTN):c.64890C>A (p.Tyr21630Ter)
NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter) rs1432889079
NM_001267550.2(TTN):c.64973-1G>C rs2154179915
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.65087_65100del (p.Ile21696fs)
NM_001267550.2(TTN):c.6514C>T (p.Gln2172Ter)
NM_001267550.2(TTN):c.65212_65213del (p.Asn21738fs)
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter) rs1193046655
NM_001267550.2(TTN):c.65437C>T (p.Gln21813Ter) rs1575960580
NM_001267550.2(TTN):c.65505del (p.Ile21835fs) rs1559521007
NM_001267550.2(TTN):c.65531del (p.Pro21844fs) rs794729331
NM_001267550.2(TTN):c.65573dup (p.Asn21858fs)
NM_001267550.2(TTN):c.65575+1del rs2154179114
NM_001267550.2(TTN):c.65595del (p.Ser21866fs)
NM_001267550.2(TTN):c.65657_65658del (p.Thr21886fs) rs2048154655
NM_001267550.2(TTN):c.65661_65677del (p.Phe21888fs) rs2048149402
NM_001267550.2(TTN):c.65755_65756del (p.Cys21919fs) rs1553629143
NM_001267550.2(TTN):c.65758_65759del (p.Thr21920fs) rs1553629105
NM_001267550.2(TTN):c.65792C>G (p.Ser21931Ter)
NM_001267550.2(TTN):c.65863+2T>A
NM_001267550.2(TTN):c.66008G>A (p.Trp22003Ter) rs1229556495
NM_001267550.2(TTN):c.66039del (p.Ser22014fs) rs1553628052
NM_001267550.2(TTN):c.66059_66060insAT (p.Ile22021fs) rs2047981524
NM_001267550.2(TTN):c.66062_66063del (p.Ile22021fs)
NM_001267550.2(TTN):c.66079C>T (p.Gln22027Ter) rs2047976018
NM_001267550.2(TTN):c.66160+1G>T rs2047961752
NM_001267550.2(TTN):c.66161-1G>C rs1553627403
NM_001267550.2(TTN):c.66239_66242dup (p.Asp22082fs) rs2047913995
NM_001267550.2(TTN):c.66254C>A (p.Ser22085Ter)
NM_001267550.2(TTN):c.66306G>A (p.Trp22102Ter)
NM_001267550.2(TTN):c.66319del (p.Arg22107fs) rs2047900528
NM_001267550.2(TTN):c.66361C>T (p.Gln22121Ter)
NM_001267550.2(TTN):c.66378dup (p.Glu22127Ter)
NM_001267550.2(TTN):c.66460C>T (p.Gln22154Ter)
NM_001267550.2(TTN):c.66464-2A>G rs1575921187
NM_001267550.2(TTN):c.66492del (p.Val22165fs)
NM_001267550.2(TTN):c.66524dup (p.Ser22176fs)
NM_001267550.2(TTN):c.66576dup (p.Val22193fs) rs2154177519
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter) rs397517664
NM_001267550.2(TTN):c.66628C>T (p.Gln22210Ter) rs757047748
NM_001267550.2(TTN):c.66637C>T (p.Gln22213Ter)
NM_001267550.2(TTN):c.66682dup (p.Tyr22228fs) rs2154177424
NM_001267550.2(TTN):c.66710del (p.Lys22237fs) rs1060500479
NM_001267550.2(TTN):c.66770-2A>C rs1553624468
NM_001267550.2(TTN):c.66776del (p.Pro22259fs)
NM_001267550.2(TTN):c.66793dup (p.Ala22265fs) rs2047469522
NM_001267550.2(TTN):c.66800T>A (p.Leu22267Ter)
NM_001267550.2(TTN):c.66816_66817del (p.Leu22273fs) rs2154176484
NM_001267550.2(TTN):c.66846T>G (p.Tyr22282Ter)
NM_001267550.2(TTN):c.66858dup (p.Gly22287fs)
NM_001267550.2(TTN):c.66885G>A (p.Trp22295Ter)
NM_001267550.2(TTN):c.66906_66907del (p.Asp22304fs)
NM_001267550.2(TTN):c.66910_66911del (p.Asp22304fs)
NM_001267550.2(TTN):c.66931_66932del (p.Lys22311fs) rs2154176398
NM_001267550.2(TTN):c.66937del (p.Thr22313fs)
NM_001267550.2(TTN):c.66941_66944dup (p.Phe22315fs) rs2047435382
NM_001267550.2(TTN):c.66968del (p.Asn22323fs) rs2154176360
NM_001267550.2(TTN):c.66981T>G (p.Tyr22327Ter) rs2047426908
NM_001267550.2(TTN):c.66985dup (p.Ala22329fs)
NM_001267550.2(TTN):c.67057+1G>A
NM_001267550.2(TTN):c.67058-1G>A
NM_001267550.2(TTN):c.67070_67071insTGTGACTGTATCCAGATAC (p.Pro22358fs) rs2047381754
NM_001267550.2(TTN):c.67070del (p.Pro22357fs)
NM_001267550.2(TTN):c.67081dup (p.Val22361fs) rs2047380262
NM_001267550.2(TTN):c.67109_67110del (p.Ser22370fs)
NM_001267550.2(TTN):c.67115_67116del (p.Tyr22372fs) rs2154176111
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs) rs1476017129
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter) rs2154176072
NM_001267550.2(TTN):c.67191del (p.Arg22398fs)
NM_001267550.2(TTN):c.67266dup (p.Ser22423fs) rs2154175989
NM_001267550.2(TTN):c.67279del (p.Arg22427fs) rs2154175979
NM_001267550.2(TTN):c.67297G>T (p.Glu22433Ter)
NM_001267550.2(TTN):c.67397C>A (p.Ser22466Ter) rs2047280731
NM_001267550.2(TTN):c.67421del (p.Lys22474fs) rs794729332
NM_001267550.2(TTN):c.67446del (p.Ile22483fs) rs2154175760
NM_001267550.2(TTN):c.67490G>A (p.Trp22497Ter)
NM_001267550.2(TTN):c.67555del (p.Tyr22519fs) rs2154175699
NM_001267550.2(TTN):c.67556_67559dup (p.Phe22521fs) rs2154175692
NM_001267550.2(TTN):c.67576G>T (p.Glu22526Ter) rs2047236705
NM_001267550.2(TTN):c.67590_67591insCTCCATGGGCTCTTCTCTTGCTTTGAAAACTCCCCCTTTTCCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTACCCCTCCCCCTCCCCCTCTCCCTCTNNNNNNNNNNAAAAACAAAAAAAAAAAAAAGAATGAAAATGGA (p.Glu22531fs) rs2154175675
NM_001267550.2(TTN):c.67613del (p.Thr22538fs)
NM_001267550.2(TTN):c.67655T>G (p.Leu22552Ter)
NM_001267550.2(TTN):c.67705_67706insLINE1
NM_001267550.2(TTN):c.67750del (p.Trp22584fs)
NM_001267550.2(TTN):c.67762del (p.Glu22588fs) rs2154175340
NM_001267550.2(TTN):c.67794del (p.Ser22598fs)
NM_001267550.2(TTN):c.67833C>G (p.Tyr22611Ter)
NM_001267550.2(TTN):c.67840C>T (p.Gln22614Ter) rs2154175288
NM_001267550.2(TTN):c.67897G>T (p.Glu22633Ter) rs1553621179
NM_001267550.2(TTN):c.67900_67901del (p.Gly22634fs)
NM_001267550.2(TTN):c.67901_67904dup (p.Ile22636fs)
NM_001267550.2(TTN):c.67906_67909dup (p.Ser22637fs)
NM_001267550.2(TTN):c.67994G>A (p.Trp22665Ter)
NM_001267550.2(TTN):c.68022dup (p.Glu22675Ter)
NM_001267550.2(TTN):c.68087C>A (p.Ser22696Ter)
NM_001267550.2(TTN):c.68108_68109del (p.Thr22702_Phe22703insTer) rs2154175051
NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)
NM_001267550.2(TTN):c.68197G>T (p.Glu22733Ter)
NM_001267550.2(TTN):c.68224+1G>A rs754250350
NM_001267550.2(TTN):c.68225-1G>A
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs) rs1085307600
NM_001267550.2(TTN):c.68262_68266del (p.Asp22754fs)
NM_001267550.2(TTN):c.68269del (p.His22757fs) rs2154174822
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68325dup (p.Thr22776fs) rs1575853060
NM_001267550.2(TTN):c.68336_68340dup (p.Glu22781fs)
NM_001267550.2(TTN):c.68349_68356del (p.Glu22784fs) rs2154174313
NM_001267550.2(TTN):c.68410_68411insTCGGTTA (p.Lys22804delinsIleGlyTer) rs2154174273
NM_001267550.2(TTN):c.68427del (p.Glu22810fs)
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter) rs200797552
NM_001267550.2(TTN):c.6846T>A (p.Tyr2282Ter)
NM_001267550.2(TTN):c.68508dup (p.Val22837fs) rs1064793845
NM_001267550.2(TTN):c.68575_68576dup (p.Ile22861fs)
NM_001267550.2(TTN):c.68606del (p.Gly22869fs)
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) rs1213930919
NM_001267550.2(TTN):c.68654dup (p.Lys22886fs) rs2154174012
NM_001267550.2(TTN):c.68663G>A (p.Trp22888Ter) rs2154174003
NM_001267550.2(TTN):c.68664G>A (p.Trp22888Ter) rs2046761831
NM_001267550.2(TTN):c.68759del (p.Asn22920fs)
NM_001267550.2(TTN):c.68768del (p.Gly22923fs)
NM_001267550.2(TTN):c.68800del (p.Thr22934fs)
NM_001267550.2(TTN):c.68807_68810dup (p.Lys22938fs) rs2046739414
NM_001267550.2(TTN):c.68824+1del
NM_001267550.2(TTN):c.68854del (p.Thr22951_Ile22952insTer)
NM_001267550.2(TTN):c.68859_68862dup (p.Gly22955fs) rs2154173774
NM_001267550.2(TTN):c.68875A>T (p.Lys22959Ter) rs2154173767
NM_001267550.2(TTN):c.68876_68883del (p.Lys22959fs) rs1575832346
NM_001267550.2(TTN):c.68934dup (p.Ser22979fs)
NM_001267550.2(TTN):c.68936C>A (p.Ser22979Ter) rs2154173745
NM_001267550.2(TTN):c.68941del (p.Trp22981fs) rs1575831755
NM_001267550.2(TTN):c.68943G>A (p.Trp22981Ter) rs1553617378
NM_001267550.2(TTN):c.68992del (p.Ser22998fs)
NM_001267550.2(TTN):c.68995del (p.Thr22999fs) rs1064796389
NM_001267550.2(TTN):c.69104dup (p.Thr23036fs) rs1559469421
NM_001267550.2(TTN):c.69105_69108dup (p.Val23037fs)
NM_001267550.2(TTN):c.69131del (p.Pro23044fs) rs2154173603
NM_001267550.2(TTN):c.69186_69187del (p.Pro23063fs)
NM_001267550.2(TTN):c.69214del (p.Ile23072fs)
NM_001267550.2(TTN):c.69234_69238del (p.Lys23079fs) rs2046600751
NM_001267550.2(TTN):c.69241_69242del (p.Glu23081fs) rs1575826940
NM_001267550.2(TTN):c.69250C>T (p.Arg23084Ter) rs794729281
NM_001267550.2(TTN):c.69256_69257dup (p.Leu23086fs) rs1553616622
NM_001267550.2(TTN):c.69257del (p.Leu23086fs)
NM_001267550.2(TTN):c.69292_69299dup (p.Ala23101fs)
NM_001267550.2(TTN):c.69325G>T (p.Glu23109Ter)
NM_001267550.2(TTN):c.69340del (p.Val23114fs) rs2046581341
NM_001267550.2(TTN):c.69379C>T (p.Gln23127Ter)
NM_001267550.2(TTN):c.69387del (p.Glu23129fs) rs2154173437
NM_001267550.2(TTN):c.69412+1G>A rs869312074
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs) rs1247353236
NM_001267550.2(TTN):c.69422_69426delinsAAAAGGACCC (p.Gly23141fs) rs2046539116
NM_001267550.2(TTN):c.69479G>A (p.Trp23160Ter) rs2154173285
NM_001267550.2(TTN):c.69491_69492del (p.Val23164fs) rs869312113
NM_001267550.2(TTN):c.69497dup (p.Asp23166fs)
NM_001267550.2(TTN):c.69513del (p.Thr23172fs)
NM_001267550.2(TTN):c.69521_69525dup (p.Val23176fs) rs2154173232
NM_001267550.2(TTN):c.69558G>A (p.Trp23186Ter) rs1575821175
NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs) rs2046499843
NM_001267550.2(TTN):c.69584_69585insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACACCAGTTTC (p.Ser23195_Asp23196insAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.69613C>T (p.Gln23205Ter)
NM_001267550.2(TTN):c.69613_69616dup (p.Glu23206fs) rs2154173163
NM_001267550.2(TTN):c.69759del (p.Lys23254fs)
NM_001267550.2(TTN):c.69811G>T (p.Glu23271Ter) rs1213132001
NM_001267550.2(TTN):c.69860G>A (p.Trp23287Ter) rs869067204
NM_001267550.2(TTN):c.69861G>A (p.Trp23287Ter)
NM_001267550.2(TTN):c.69866_69869dup (p.Asp23290fs) rs2154172862
NM_001267550.2(TTN):c.69871del (p.Thr23291fs)
NM_001267550.2(TTN):c.6989_6998del (p.Lys2330fs)
NM_001267550.2(TTN):c.69923_69926dup (p.Lys23309delinsAsnTer) rs2154172827
NM_001267550.2(TTN):c.69937_69938insGAAAAATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Asn23313delinsArgLysIleGlnAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.69937_69938insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAAATACA (p.Tyr23312_Asn23313insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluLysTyr)
NM_001267550.2(TTN):c.69968del (p.Gly23323fs)
NM_001267550.2(TTN):c.69972del (p.Glu23326fs)
NM_001267550.2(TTN):c.69999del (p.Glu23334fs)
NM_001267550.2(TTN):c.70025del (p.Pro23342fs)
NM_001267550.2(TTN):c.70032dup (p.Glu23345Ter)
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter) rs1060500575
NM_001267550.2(TTN):c.70115del (p.Pro23372fs)
NM_001267550.2(TTN):c.70133G>A (p.Trp23378Ter)
NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs) rs1553614347
NM_001267550.2(TTN):c.70215dup (p.Asn23406Ter) rs1553614378
NM_001267550.2(TTN):c.70222del (p.Tyr23408fs) rs2154172616
NM_001267550.2(TTN):c.70224T>A (p.Tyr23408Ter) rs908321623
NM_001267550.2(TTN):c.70270A>T (p.Lys23424Ter)
NM_001267550.2(TTN):c.70346del (p.Lys23449fs) rs2154172536
NM_001267550.2(TTN):c.70379_70382dup (p.Gly23463fs) rs2154172514
NM_001267550.2(TTN):c.70388del (p.Gly23463fs) rs2154172507
NM_001267550.2(TTN):c.70401_70402dup (p.Thr23468fs)
NM_001267550.2(TTN):c.70437del (p.Lys23480fs) rs2154172462
NM_001267550.2(TTN):c.70467C>A (p.Cys23489Ter) rs2154172442
NM_001267550.2(TTN):c.70482_70483del (p.Tyr23494_Lys23495delinsTer)
NM_001267550.2(TTN):c.70491del (p.Gly23498fs) rs2154172422
NM_001267550.2(TTN):c.70501G>T (p.Glu23501Ter) rs1709809170
NM_001267550.2(TTN):c.70524_70525del (p.Arg23508fs)
NM_001267550.2(TTN):c.7057+2T>C rs2154345049
NM_001267550.2(TTN):c.70571_70572dup (p.Glu23525fs) rs1709775754
NM_001267550.2(TTN):c.70629_70632dup (p.Thr23545fs) rs2154172318
NM_001267550.2(TTN):c.70701T>A (p.Tyr23567Ter)
NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter) rs1559449398
NM_001267550.2(TTN):c.70745dup (p.Thr23583fs) rs1559448864
NM_001267550.2(TTN):c.70785_70788dup (p.Glu23597delinsAsnTer) rs2154172210
NM_001267550.2(TTN):c.70814_70815insTT (p.Val23605_Met23606insTer) rs1709673176
NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter) rs1575799625
NM_001267550.2(TTN):c.70897dup (p.Leu23633fs) rs1709631095
NM_001267550.2(TTN):c.70917T>A (p.Tyr23639Ter)
NM_001267550.2(TTN):c.70918C>T (p.Gln23640Ter)
NM_001267550.2(TTN):c.70920_70923dup (p.Leu23642fs)
NM_001267550.2(TTN):c.70922_70923delinsG (p.Lys23641fs) rs1709617800
NM_001267550.2(TTN):c.70936A>T (p.Lys23646Ter) rs2154172066
NM_001267550.2(TTN):c.70957del (p.Val23653fs) rs2154172050
NM_001267550.2(TTN):c.71002A>T (p.Lys23668Ter) rs1553612321
NM_001267550.2(TTN):c.71024_71027del (p.Lys23675fs) rs1709577304
NM_001267550.2(TTN):c.71035_71038del (p.Arg23679fs) rs1575797171
NM_001267550.2(TTN):c.71045_71046del (p.Asn23681_Phe23682insTer) rs2154171990
NM_001267550.2(TTN):c.71126_71127delinsA (p.Arg23709fs) rs1709548356
NM_001267550.2(TTN):c.71146_71156del (p.Gly23716fs) rs2154171911
NM_001267550.2(TTN):c.71201_71204del (p.Ile23734fs) rs2154171881
NM_001267550.2(TTN):c.71237del (p.Phe23746fs)
NM_001267550.2(TTN):c.71242del (p.Trp23748fs) rs1060500514
NM_001267550.2(TTN):c.71244G>A (p.Trp23748Ter)
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter) rs727503567
NM_001267550.2(TTN):c.71351_71352insGGTA (p.Thr23785fs) rs2154171770
NM_001267550.2(TTN):c.71356dup (p.Tyr23786fs) rs2154171765
NM_001267550.2(TTN):c.71365dup (p.Thr23789fs)
NM_001267550.2(TTN):c.71378_71385del (p.Thr23793fs) rs1709461632
NM_001267550.2(TTN):c.71407del (p.Ala23803fs)
NM_001267550.2(TTN):c.71476del (p.Val23826fs)
NM_001267550.2(TTN):c.71525C>G (p.Ser23842Ter)
NM_001267550.2(TTN):c.71542_71564dup (p.Ser23856fs) rs2154171645
NM_001267550.2(TTN):c.71550del (p.Leu23851fs)
NM_001267550.2(TTN):c.71563G>T (p.Gly23855Ter) rs794729381
NM_001267550.2(TTN):c.71619G>A (p.Trp23873Ter)
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) rs727503565
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer) rs1709360511
NM_001267550.2(TTN):c.71690_71691dup (p.Glu23898fs) rs2154171550
NM_001267550.2(TTN):c.71706del (p.Ile23902fs) rs2154171534
NM_001267550.2(TTN):c.71835G>A (p.Trp23945Ter) rs1217858818
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs) rs1254650118
NM_001267550.2(TTN):c.71869del (p.Thr23957fs)
NM_001267550.2(TTN):c.71912G>A (p.Trp23971Ter)
NM_001267550.2(TTN):c.71990del (p.Phe23997fs)
NM_001267550.2(TTN):c.72025_72035del (p.Ile24008_Ser24009insTer)
NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter) rs1709195189
NM_001267550.2(TTN):c.72130_72133del (p.Gly24044fs) rs2154171220
NM_001267550.2(TTN):c.72226_72229dup (p.Glu24077fs)
NM_001267550.2(TTN):c.72339_72340del (p.Ile24114fs) rs1559429489
NM_001267550.2(TTN):c.72356_72371dup (p.Gly24124_Pro24125insSerTer)
NM_001267550.2(TTN):c.72397del (p.Thr24133fs) rs2154171047
NM_001267550.2(TTN):c.72410C>A (p.Ser24137Ter)
NM_001267550.2(TTN):c.72433_72434insGA (p.Phe24145Ter) rs1709055431
NM_001267550.2(TTN):c.72441_72442del (p.Leu24148fs)
NM_001267550.2(TTN):c.72463del (p.Ile24155fs)
NM_001267550.2(TTN):c.72509G>A (p.Trp24170Ter) rs2154170981
NM_001267550.2(TTN):c.72542dup (p.Leu24182fs) rs1709014153
NM_001267550.2(TTN):c.72574G>T (p.Glu24192Ter) rs2154170941
NM_001267550.2(TTN):c.72612_72616del (p.Val24205fs) rs2154170904
NM_001267550.2(TTN):c.72613del (p.Val24205fs) rs1708996209
NM_001267550.2(TTN):c.72630dup (p.Ser24211fs)
NM_001267550.2(TTN):c.72661G>T (p.Gly24221Ter)
NM_001267550.2(TTN):c.72668dup (p.Pro24223_Asp24224insTer)
NM_001267550.2(TTN):c.72688G>T (p.Glu24230Ter) rs2154170836
NM_001267550.2(TTN):c.72730G>T (p.Gly24244Ter) rs1708937897
NM_001267550.2(TTN):c.72756del (p.Ser24252fs)
NM_001267550.2(TTN):c.72767dup (p.Asn24256fs)
NM_001267550.2(TTN):c.72771dup (p.Ile24258fs)
NM_001267550.2(TTN):c.72816C>A (p.Cys24272Ter)
NM_001267550.2(TTN):c.72826del (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs) rs751319893
NM_001267550.2(TTN):c.72839T>G (p.Leu24280Ter)
NM_001267550.2(TTN):c.72867del (p.Gly24290fs) rs2154170719
NM_001267550.2(TTN):c.72873del (p.His24291fs) rs1575772360
NM_001267550.2(TTN):c.72935_72939del (p.Ser24312fs) rs2154170669
NM_001267550.2(TTN):c.72945C>G (p.Tyr24315Ter) rs879087983
NM_001267550.2(TTN):c.72956_72963del (p.Asp24319fs) rs1064793876
NM_001267550.2(TTN):c.72963_72964del (p.Val24321_Phe24322insTer) rs1708864326
NM_001267550.2(TTN):c.73044_73047dup (p.Asp24350delinsLeuTer)
NM_001267550.2(TTN):c.73046_73047del (p.Ile24348_Tyr24349insTer) rs1708834541
NM_001267550.2(TTN):c.73047T>G (p.Tyr24349Ter) rs2154170589
NM_001267550.2(TTN):c.73075_73076dup (p.Met24359fs) rs1575769723
NM_001267550.2(TTN):c.73105_73115del (p.Glu24369fs) rs2154170535
NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter) rs869312115
NM_001267550.2(TTN):c.73110G>A (p.Trp24370Ter)
NM_001267550.2(TTN):c.73148C>A (p.Ser24383Ter)
NM_001267550.2(TTN):c.73156_73159dup (p.Thr24387fs) rs2154170500
NM_001267550.2(TTN):c.73175_73178dup (p.Glu24394fs) rs2154170480
NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter)
NM_001267550.2(TTN):c.73200del (p.Ile24399_Tyr24400insTer)
NM_001267550.2(TTN):c.73218_73222dup (p.Gly24408fs)
NM_001267550.2(TTN):c.73244del (p.Gly24415fs) rs1708759700
NM_001267550.2(TTN):c.73285G>T (p.Glu24429Ter) rs373773552
NM_001267550.2(TTN):c.73324_73328delinsC (p.Ala24442fs) rs1553607562
NM_001267550.2(TTN):c.7332dup (p.Val2445fs)
NM_001267550.2(TTN):c.73346_73347del (p.Phe24449fs) rs2154170352
NM_001267550.2(TTN):c.73347del (p.Phe24449fs) rs2154170352
NM_001267550.2(TTN):c.73348del (p.Val24450fs)
NM_001267550.2(TTN):c.73387del (p.Ala24463fs) rs1553607425
NM_001267550.2(TTN):c.73411_73414del (p.Asp24471fs) rs1708673550
NM_001267550.2(TTN):c.73426G>T (p.Glu24476Ter) rs760487688
NM_001267550.2(TTN):c.73508del (p.Asn24503fs) rs886038839
NM_001267550.2(TTN):c.73522A>T (p.Lys24508Ter)
NM_001267550.2(TTN):c.73543dup (p.Arg24515fs) rs2154170227
NM_001267550.2(TTN):c.73557_73558dup (p.Pro24520fs) rs1559415816
NM_001267550.2(TTN):c.73568del (p.Pro24523fs) rs1559415567
NM_001267550.2(TTN):c.73568dup (p.Gln24524fs)
NM_001267550.2(TTN):c.73581_73585del (p.Val24528fs) rs1708609129
NM_001267550.2(TTN):c.73619G>A (p.Trp24540Ter)
NM_001267550.2(TTN):c.73620G>A (p.Trp24540Ter) rs2154170160
NM_001267550.2(TTN):c.73646C>G (p.Ser24549Ter)
NM_001267550.2(TTN):c.73687A>T (p.Arg24563Ter)
NM_001267550.2(TTN):c.73734G>A (p.Trp24578Ter) rs753105114
NM_001267550.2(TTN):c.73735_73738del (p.Trp24578_Lys24579insTer)
NM_001267550.2(TTN):c.73750C>T (p.Gln24584Ter)
NM_001267550.2(TTN):c.73792G>T (p.Glu24598Ter) rs1708526179
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs) rs1708504899
NM_001267550.2(TTN):c.73845del (p.Glu24615fs) rs397517696
NM_001267550.2(TTN):c.73911G>A (p.Trp24637Ter) rs1708468046
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter) rs2154169928
NM_001267550.2(TTN):c.73974_73978del (p.Lys24658_Gly24659insTer) rs2154169901
NM_001267550.2(TTN):c.73975_74029del (p.Gly24659fs)
NM_001267550.2(TTN):c.73998T>A (p.Cys24666Ter)
NM_001267550.2(TTN):c.74015del (p.Thr24672fs)
NM_001267550.2(TTN):c.74033_74036del (p.Gly24678fs) rs2154169838
NM_001267550.2(TTN):c.74041C>T (p.Gln24681Ter) rs1575756767
NM_001267550.2(TTN):c.74074C>T (p.Gln24692Ter)
NM_001267550.2(TTN):c.74099_74124del (p.Pro24700fs) rs1708368133
NM_001267550.2(TTN):c.74202dup (p.Val24735fs) rs2154169694
NM_001267550.2(TTN):c.74258del (p.Asn24753fs) rs2154169665
NM_001267550.2(TTN):c.7433G>A (p.Trp2478Ter) rs1561254509
NM_001267550.2(TTN):c.74358del (p.His24785_Tyr24786insTer) rs1708277443
NM_001267550.2(TTN):c.74367del (p.Lys24789fs) rs2154169575
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.74374_74377dup (p.Ser24793Ter)
NM_001267550.2(TTN):c.74452dup (p.Met24818fs) rs2154169509
NM_001267550.2(TTN):c.74490G>A (p.Trp24830Ter) rs1708235406
NM_001267550.2(TTN):c.74532del (p.Asn24843_Tyr24844insTer) rs2154169439
NM_001267550.2(TTN):c.74536del (p.Val24846fs) rs1553605154
NM_001267550.2(TTN):c.74569C>T (p.Gln24857Ter)
NM_001267550.2(TTN):c.74585del (p.Thr24862fs)
NM_001267550.2(TTN):c.74608del (p.Ala24870fs) rs878854332
NM_001267550.2(TTN):c.74638C>T (p.Gln24880Ter) rs1553604869
NM_001267550.2(TTN):c.74677_74678dup (p.Tyr24894fs) rs2154169318
NM_001267550.2(TTN):c.74716_74719del (p.Phe24906fs) rs2154169290
NM_001267550.2(TTN):c.74767dup (p.Asp24923fs) rs1343078144
NM_001267550.2(TTN):c.74848del (p.Arg24950fs) rs2154169198
NM_001267550.2(TTN):c.74852del (p.Asn24951fs)
NM_001267550.2(TTN):c.74987_74991dup (p.Ser24998fs) rs1553604316
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter) rs1561253718
NM_001267550.2(TTN):c.74995_74996del (p.Glu24999fs) rs1708041287
NM_001267550.2(TTN):c.75080G>A (p.Trp25027Ter)
NM_001267550.2(TTN):c.75106_75110del (p.Ser25036fs) rs2154169014
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.75139G>T (p.Glu25047Ter)
NM_001267550.2(TTN):c.75148G>T (p.Glu25050Ter) rs770754919
NM_001267550.2(TTN):c.75231T>A (p.Tyr25077Ter) rs750699540
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) rs794729286
NM_001267550.2(TTN):c.75268_75274del (p.Phe25090fs) rs2154168865
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.75333_75334dup (p.Ser25112fs) rs2154168819
NM_001267550.2(TTN):c.75354del (p.Asp25119fs) rs1559394355
NM_001267550.2(TTN):c.75386dup (p.Lys25130fs) rs1707893646
NM_001267550.2(TTN):c.75448C>T (p.Gln25150Ter)
NM_001267550.2(TTN):c.75458_75459dup (p.Asn25154fs)
NM_001267550.2(TTN):c.75482dup (p.Ser25162fs)
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001267550.2(TTN):c.75589del (p.Thr25196_Val25197insTer)
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.75663dup (p.Cys25222fs)
NM_001267550.2(TTN):c.75741del (p.Ser25248fs)
NM_001267550.2(TTN):c.75820_75823del (p.Glu25274fs)
NM_001267550.2(TTN):c.75865G>T (p.Glu25289Ter)
NM_001267550.2(TTN):c.75895A>T (p.Lys25299Ter)
NM_001267550.2(TTN):c.75898_75901dup (p.Pro25301fs)
NM_001267550.2(TTN):c.75900del (p.Pro25301fs)
NM_001267550.2(TTN):c.75974G>A (p.Trp25325Ter) rs1553602546
NM_001267550.2(TTN):c.75984_75985insTACCA (p.Ala25329fs) rs1707618662
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.76134_76135del (p.Arg25378fs) rs2154168209
NM_001267550.2(TTN):c.76155_76158dup (p.Leu25387fs)
NM_001267550.2(TTN):c.76210del (p.Tyr25404fs)
NM_001267550.2(TTN):c.76226del (p.Pro25409fs) rs2154168142
NM_001267550.2(TTN):c.76240dup (p.Val25414fs) rs1707514832
NM_001267550.2(TTN):c.76262C>A (p.Ser25421Ter) rs1707503235
NM_001267550.2(TTN):c.76278G>A (p.Trp25426Ter) rs1064794060
NM_001267550.2(TTN):c.76332dup (p.Cys25445fs) rs1707471794
NM_001267550.2(TTN):c.76342_76345del (p.Ser25448fs)
NM_001267550.2(TTN):c.76342_76345dup (p.Val25449fs) rs2154168044
NM_001267550.2(TTN):c.76355G>A (p.Trp25452Ter)
NM_001267550.2(TTN):c.76356G>A (p.Trp25452Ter) rs2154168035
NM_001267550.2(TTN):c.76393_76396del (p.Thr25464_Asn25465insTer) rs727504483
NM_001267550.2(TTN):c.76446_76447del (p.Ala25483fs) rs1707425522
NM_001267550.2(TTN):c.76507del (p.Glu25503fs) rs2154167928
NM_001267550.2(TTN):c.76513_76514dup (p.Leu25505fs)
NM_001267550.2(TTN):c.76540del (p.Asp25513_Leu25514insTer) rs1559382080
NM_001267550.2(TTN):c.76721dup (p.Tyr25574Ter)
NM_001267550.2(TTN):c.76722T>A (p.Tyr25574Ter) rs55696153
NM_001267550.2(TTN):c.76724_76727dup (p.Ser25576delinsArgTer) rs2154167762
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter) rs1707280155
NM_001267550.2(TTN):c.76743dup (p.Thr25582fs) rs2154167743
NM_001267550.2(TTN):c.76748del (p.Thr25582_Leu25583insTer)
NM_001267550.2(TTN):c.76807dup (p.Ser25603fs) rs2154167705
NM_001267550.2(TTN):c.76846_76847del (p.Asp25616fs) rs1559378965
NM_001267550.2(TTN):c.76865G>A (p.Trp25622Ter) rs756552975
NM_001267550.2(TTN):c.76945del (p.Ala25649fs) rs1707205123
NM_001267550.2(TTN):c.76970del (p.Lys25657fs)
NM_001267550.2(TTN):c.76970dup (p.Asn25658fs)
NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter)
NM_001267550.2(TTN):c.77013T>A (p.Tyr25671Ter)
NM_001267550.2(TTN):c.77014dup (p.Tyr25672fs) rs2154167532
NM_001267550.2(TTN):c.77026del (p.Thr25676fs) rs2154167529
NM_001267550.2(TTN):c.77046dup (p.Ile25683fs)
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
NM_001267550.2(TTN):c.77147_77150del (p.Val25715_Ser25716insTer) rs1466647934
NM_001267550.2(TTN):c.77157G>A (p.Trp25719Ter) rs1707088255
NM_001267550.2(TTN):c.77177del (p.Gly25726fs) rs794729344
NM_001267550.2(TTN):c.77227G>T (p.Glu25743Ter) rs765997807
NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter) rs1575714442
NM_001267550.2(TTN):c.77263C>T (p.Gln25755Ter) rs2154167332
NM_001267550.2(TTN):c.77299dup (p.Tyr25767fs)
NM_001267550.2(TTN):c.77326G>T (p.Glu25776Ter) rs1553600058
NM_001267550.2(TTN):c.77404_77405insA (p.Pro25802fs)
NM_001267550.2(TTN):c.77437C>T (p.Gln25813Ter) rs794729287
NM_001267550.2(TTN):c.77452del (p.Glu25818fs)
NM_001267550.2(TTN):c.77493G>A (p.Trp25831Ter)
NM_001267550.2(TTN):c.77510del (p.Pro25837fs)
NM_001267550.2(TTN):c.77546C>G (p.Ser25849Ter)
NM_001267550.2(TTN):c.77604T>G (p.Tyr25868Ter) rs752137856
NM_001267550.2(TTN):c.77605G>T (p.Gly25869Ter)
NM_001267550.2(TTN):c.77610del (p.Thr25871fs) rs1706840484
NM_001267550.2(TTN):c.77751T>A (p.Tyr25917Ter)
NM_001267550.2(TTN):c.77785C>T (p.Gln25929Ter)
NM_001267550.2(TTN):c.77843del (p.Thr25948fs)
NM_001267550.2(TTN):c.77853del (p.Lys25951_Val25952insTer)
NM_001267550.2(TTN):c.77884del (p.Gln25962fs)
NM_001267550.2(TTN):c.77902G>T (p.Glu25968Ter)
NM_001267550.2(TTN):c.77906dup (p.Asn25969fs) rs1559368995
NM_001267550.2(TTN):c.77907_77908del (p.Asn25969fs) rs2154166826
NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs) rs1553597801
NM_001267550.2(TTN):c.78075C>A (p.Tyr26025Ter) rs1553597198
NM_001267550.2(TTN):c.78097_78098del (p.Asn26033fs)
NM_001267550.2(TTN):c.78110G>A (p.Trp26037Ter)
NM_001267550.2(TTN):c.78153del (p.Ala26052fs) rs2154166670
NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter) rs869312057
NM_001267550.2(TTN):c.78192_78193del (p.Arg26064fs)
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter) rs1553596594
NM_001267550.2(TTN):c.78231_78234del (p.Ser26077fs)
NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter) rs747203787
NM_001267550.2(TTN):c.78278_78279del (p.Gly26093fs)
NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter) rs1559364892
NM_001267550.2(TTN):c.78342T>G (p.Tyr26114Ter) rs2154166540
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
NM_001267550.2(TTN):c.78369_78376dup (p.Glu26126delinsAlaLeuTer)
NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter) rs1064793668
NM_001267550.2(TTN):c.78634A>T (p.Arg26212Ter) rs1559362000
NM_001267550.2(TTN):c.78656del (p.Gly26219fs) rs1706331057
NM_001267550.2(TTN):c.78689del (p.Gly26230fs) rs2154166282
NM_001267550.2(TTN):c.78697G>T (p.Glu26233Ter) rs267599036
NM_001267550.2(TTN):c.78749del (p.Leu26250fs) rs1064793285
NM_001267550.2(TTN):c.78861_78864del (p.Gly26288fs)
NM_001267550.2(TTN):c.78924G>A (p.Trp26308Ter)
NM_001267550.2(TTN):c.79006dup (p.Val26336fs)
NM_001267550.2(TTN):c.79016C>A (p.Ser26339Ter)
NM_001267550.2(TTN):c.79041del (p.Val26348fs) rs1706189208
NM_001267550.2(TTN):c.79137_79138dup (p.Met26380fs) rs2154165980
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter) rs1131691944
NM_001267550.2(TTN):c.79175del (p.Ser26392fs) rs1706104379
NM_001267550.2(TTN):c.79185_79186insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGCTTGGAAGTC (p.Val26395_Thr26396insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysSerLeuGluVal)
NM_001267550.2(TTN):c.79199_79200del (p.Lys26400fs) rs2154165935
NM_001267550.2(TTN):c.79273A>T (p.Lys26425Ter) rs1706063163
NM_001267550.2(TTN):c.79278del (p.Asp26427fs) rs1064796574
NM_001267550.2(TTN):c.79298G>A (p.Trp26433Ter) rs1559355268
NM_001267550.2(TTN):c.79305del (p.Lys26435fs) rs2154165874
NM_001267550.2(TTN):c.79368_79369del (p.Glu26456_Tyr26457insTer)
NM_001267550.2(TTN):c.79371T>A (p.Tyr26457Ter) rs1706021639
NM_001267550.2(TTN):c.79427_79428dup (p.Val26477fs)
NM_001267550.2(TTN):c.79523G>A (p.Trp26508Ter)
NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter) rs1575685597
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs) rs1312613088
NM_001267550.2(TTN):c.79602G>A (p.Trp26534Ter)
NM_001267550.2(TTN):c.79603C>T (p.Gln26535Ter) rs1064793911
NM_001267550.2(TTN):c.79639C>T (p.Arg26547Ter)
NM_001267550.2(TTN):c.79687dup (p.Val26563fs)
NM_001267550.2(TTN):c.79717G>T (p.Glu26573Ter) rs1705879851
NM_001267550.2(TTN):c.79793T>G (p.Leu26598Ter) rs1064794023
NM_001267550.2(TTN):c.79797_79822dup (p.Gly26608delinsGluLysGluLeuLeuTer) rs2154165475
NM_001267550.2(TTN):c.79801G>T (p.Gly26601Ter) rs773632027
NM_001267550.2(TTN):c.79806_79809del (p.Ile26602fs) rs794729347
NM_001267550.2(TTN):c.79844_79848del (p.Pro26615fs)
NM_001267550.2(TTN):c.79878G>A (p.Trp26626Ter) rs1705798888
NM_001267550.2(TTN):c.79912C>T (p.Gln26638Ter) rs1705781269
NM_001267550.2(TTN):c.79917del (p.Ile26639fs) rs1705777731
NM_001267550.2(TTN):c.79924G>T (p.Gly26642Ter)
NM_001267550.2(TTN):c.80000del (p.Asn26667fs)
NM_001267550.2(TTN):c.80044_80047dup (p.Thr26683fs) rs1553586069
NM_001267550.2(TTN):c.80082_80086del (p.Val26695fs) rs2154165293
NM_001267550.2(TTN):c.80125_80126dup (p.Asp26710fs) rs1705700724
NM_001267550.2(TTN):c.80169dup (p.Glu26724Ter) rs1705682545
NM_001267550.2(TTN):c.80174_80202dup (p.Ser26735delinsGlnProGluLysArgMetLeuMetTer) rs2154165199
NM_001267550.2(TTN):c.8017A>T (p.Lys2673Ter)
NM_001267550.2(TTN):c.80218del (p.Thr26740fs)
NM_001267550.2(TTN):c.80259T>G (p.Tyr26753Ter) rs895018646
NM_001267550.2(TTN):c.80268_80269del (p.Arg26756fs) rs2154165154
NM_001267550.2(TTN):c.80361del (p.Thr26788fs)
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter) rs2154165062
NM_001267550.2(TTN):c.80386del (p.Ser26796fs) rs1651641615
NM_001267550.2(TTN):c.80445C>A (p.Tyr26815Ter) rs759414143
NM_001267550.2(TTN):c.80458C>T (p.Gln26820Ter) rs2154164995
NM_001267550.2(TTN):c.80466dup (p.Gly26823fs)
NM_001267550.2(TTN):c.80478dup (p.Trp26827fs)
NM_001267550.2(TTN):c.80504del (p.Val26835fs)
NM_001267550.2(TTN):c.80539C>T (p.Gln26847Ter)
NM_001267550.2(TTN):c.80547T>A (p.Tyr26849Ter) rs1575673206
NM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter) rs1575673206
NM_001267550.2(TTN):c.80568T>A (p.Tyr26856Ter) rs769878576
NM_001267550.2(TTN):c.80578G>T (p.Gly26860Ter)
NM_001267550.2(TTN):c.80584del (p.Ser26862fs) rs794729348
NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter) rs79926414
NM_001267550.2(TTN):c.80666del (p.Tyr26889fs) rs2154164836
NM_001267550.2(TTN):c.80736_80742del (p.Trp26913fs) rs1575670635
NM_001267550.2(TTN):c.80740dup (p.Val26914fs) rs2154164758
NM_001267550.2(TTN):c.80762_80765del (p.Lys26921fs) rs2154164725
NM_001267550.2(TTN):c.80772_80773del (p.Arg26925fs)
NM_001267550.2(TTN):c.80792dup (p.Ala26932fs) rs2154164664
NM_001267550.2(TTN):c.80801C>G (p.Ser26934Ter)
NM_001267550.2(TTN):c.80850C>A (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.80927_80928del (p.Pro26976fs) rs2154164271
NM_001267550.2(TTN):c.80927del (p.Pro26976fs) rs2154164277
NM_001267550.2(TTN):c.80943dup (p.Phe26982fs)
NM_001267550.2(TTN):c.80950_80951del (p.Glu26984fs)
NM_001267550.2(TTN):c.80975dup (p.Ser26993fs)
NM_001267550.2(TTN):c.80997T>A (p.Tyr26999Ter)
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.81059G>A (p.Trp27020Ter)
NM_001267550.2(TTN):c.81096del (p.Lys27033_Ile27034insTer) rs2154163856
NM_001267550.2(TTN):c.81100_81103dup (p.Thr27035fs) rs1060500593
NM_001267550.2(TTN):c.81126del (p.Glu27042fs) rs1553579429
NM_001267550.2(TTN):c.81199C>T (p.Gln27067Ter)
NM_001267550.2(TTN):c.81202del (p.Tyr27068fs) rs794729394
NM_001267550.2(TTN):c.81227_81233del (p.Pro27076fs)
NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs) rs749610641
NM_001267550.2(TTN):c.81254C>G (p.Ser27085Ter) rs1705109191
NM_001267550.2(TTN):c.81259del (p.Asp27087fs) rs2154163570
NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs) rs869312059
NM_001267550.2(TTN):c.81281dup (p.His27094fs)
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81323del (p.His27108fs) rs1575663530
NM_001267550.2(TTN):c.81337G>T (p.Glu27113Ter) rs794729292
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs) rs886038928
NM_001267550.2(TTN):c.81341del (p.Lys27114fs)
NM_001267550.2(TTN):c.81357G>A (p.Trp27119Ter)
NM_001267550.2(TTN):c.81372_81373del (p.Lys27124fs) rs2154163297
NM_001267550.2(TTN):c.81379del (p.Ile27127fs) rs2154163264
NM_001267550.2(TTN):c.81411del (p.Asp27138fs) rs2154163173
NM_001267550.2(TTN):c.81455_81456del (p.Ile27152fs)
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) rs397517721
NM_001267550.2(TTN):c.81557_81564del (p.Asn27186fs) rs2154162877
NM_001267550.2(TTN):c.81561_81562insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAACAATGTC (p.Val27187_Thr27188insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysArgAsnAsnVal) rs2154162886
NM_001267550.2(TTN):c.81573del (p.Lys27190_Trp27191insTer) rs2154162859
NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)
NM_001267550.2(TTN):c.81629_81632del (p.Lys27210fs)
NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter) rs1559330805
NM_001267550.2(TTN):c.81718del (p.Arg27240fs) rs1575658959
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter) rs769821404
NM_001267550.2(TTN):c.81758del (p.Asn27253fs) rs2154162603
NM_001267550.2(TTN):c.81802del (p.Asp27268fs) rs2154162514
NM_001267550.2(TTN):c.81805G>T (p.Glu27269Ter)
NM_001267550.2(TTN):c.81847_81850del (p.Asp27283fs)
NM_001267550.2(TTN):c.81886del (p.Glu27296fs) rs727503557
NM_001267550.2(TTN):c.81912_81919dup (p.Val27307fs)
NM_001267550.2(TTN):c.81943G>T (p.Glu27315Ter) rs373533040
NM_001267550.2(TTN):c.82001_82002del (p.Leu27334fs) rs1704746759
NM_001267550.2(TTN):c.82044del (p.Ile27348_Leu27349insTer)
NM_001267550.2(TTN):c.82113_82132dup (p.Lys27378delinsSerLeuLeuLysGlyLeuTer) rs2154161823
NM_001267550.2(TTN):c.82172G>A (p.Trp27391Ter) rs2154161781
NM_001267550.2(TTN):c.82186dup (p.Gln27396fs)
NM_001267550.2(TTN):c.82193del (p.Gly27398fs) rs1064795346
NM_001267550.2(TTN):c.82208C>G (p.Ser27403Ter) rs1704654934
NM_001267550.2(TTN):c.82226del (p.Lys27409fs) rs1575653015
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter) rs2154161716
NM_001267550.2(TTN):c.82273C>T (p.Gln27425Ter) rs371332011
NM_001267550.2(TTN):c.82299del (p.Lys27433fs) rs2154161694
NM_001267550.2(TTN):c.82350T>G (p.Tyr27450Ter) rs1060503941
NM_001267550.2(TTN):c.82409del (p.Pro27470fs)
NM_001267550.2(TTN):c.82415_82419dup (p.Ser27474fs)
NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter)
NM_001267550.2(TTN):c.82512C>A (p.Tyr27504Ter) rs1181684993
NM_001267550.2(TTN):c.82529del (p.Asp27510fs)
NM_001267550.2(TTN):c.82535_82538del (p.Glu27512fs)
NM_001267550.2(TTN):c.82536del (p.Gly27513fs) rs2154161517
NM_001267550.2(TTN):c.82547G>A (p.Trp27516Ter) rs2154161494
NM_001267550.2(TTN):c.82576del (p.Asp27526fs)
NM_001267550.2(TTN):c.82592_82593del (p.Val27531fs) rs1704477893
NM_001267550.2(TTN):c.82594dup (p.Thr27532fs) rs1064795407
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.82673dup (p.Ser27559fs) rs1704426915
NM_001267550.2(TTN):c.82684_82685insSVAelement
NM_001267550.2(TTN):c.826C>T (p.Gln276Ter) rs2154358498
NM_001267550.2(TTN):c.82727del (p.Asn27576fs)
NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter) rs368850871
NM_001267550.2(TTN):c.82786del (p.Tyr27596fs) rs1704380780
NM_001267550.2(TTN):c.82822G>T (p.Glu27608Ter) rs1704361187
NM_001267550.2(TTN):c.82843del (p.Asp27615fs)
NM_001267550.2(TTN):c.82847_82850del (p.Glu27616fs) rs2154161251
NM_001267550.2(TTN):c.82879C>T (p.Gln27627Ter) rs747365357
NM_001267550.2(TTN):c.82895_82896del (p.Thr27632fs) rs796267411
NM_001267550.2(TTN):c.82909A>T (p.Lys27637Ter)
NM_001267550.2(TTN):c.82999C>T (p.Gln27667Ter) rs2154161170
NM_001267550.2(TTN):c.83048del (p.Lys27683fs) rs1060500572
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs) rs869312037
NM_001267550.2(TTN):c.83104C>T (p.Arg27702Ter) rs1559314812
NM_001267550.2(TTN):c.83125_83131del (p.Trp27709fs)
NM_001267550.2(TTN):c.83126G>A (p.Trp27709Ter) rs2154161090
NM_001267550.2(TTN):c.83232T>A (p.Tyr27744Ter)
NM_001267550.2(TTN):c.83297C>A (p.Ser27766Ter)
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs) rs2154160971
NM_001267550.2(TTN):c.83335A>T (p.Lys27779Ter) rs2154160959
NM_001267550.2(TTN):c.83345C>G (p.Ser27782Ter) rs769862471
NM_001267550.2(TTN):c.83384del (p.Gly27795fs) rs1704151765
NM_001267550.2(TTN):c.83504_83505del (p.Ser27835fs)
NM_001267550.2(TTN):c.83609dup (p.Thr27871fs)
NM_001267550.2(TTN):c.83635del (p.Thr27879fs)
NM_001267550.2(TTN):c.83653G>T (p.Glu27885Ter) rs794729295
NM_001267550.2(TTN):c.83730G>A (p.Trp27910Ter)
NM_001267550.2(TTN):c.83739C>A (p.Cys27913Ter)
NM_001267550.2(TTN):c.83747_83751del (p.Val27916fs)
NM_001267550.2(TTN):c.83788_83789del (p.Glu27930fs) rs1553567622
NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs) rs1575633082
NM_001267550.2(TTN):c.83971C>T (p.Gln27991Ter) rs1703920233
NM_001267550.2(TTN):c.84024_84025del (p.Arg28008fs) rs1575630957
NM_001267550.2(TTN):c.84062_84065del (p.Ser28021fs) rs1703876192
NM_001267550.2(TTN):c.84063_84066del (p.Ile28022fs) rs796692860
NM_001267550.2(TTN):c.84070_84073del (p.Glu28024fs) rs2154160472
NM_001267550.2(TTN):c.84099T>A (p.Tyr28033Ter) rs762450131
NM_001267550.2(TTN):c.84109_84110del (p.Val28037fs) rs2154160413
NM_001267550.2(TTN):c.84202_84205del (p.Ser28068fs)
NM_001267550.2(TTN):c.84228del (p.Ser28075_Trp28076insTer) rs1703813514
NM_001267550.2(TTN):c.84296_84297del (p.Ser28099fs) rs1553565463
NM_001267550.2(TTN):c.84311_84312del (p.Ile28104fs) rs1553565316
NM_001267550.2(TTN):c.84353del (p.Arg28118fs)
NM_001267550.2(TTN):c.84365del (p.Gly28122fs) rs750146750
NM_001267550.2(TTN):c.84370_84373del (p.Glu28124fs) rs1559301344
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) rs869312119
NM_001267550.2(TTN):c.84405T>G (p.Tyr28135Ter) rs756176112
NM_001267550.2(TTN):c.84464del (p.Pro28155fs)
NM_001267550.2(TTN):c.84482del (p.Pro28161fs) rs1060500556
NM_001267550.2(TTN):c.84504dup (p.Ser28169fs)
NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter) rs2154159874
NM_001267550.2(TTN):c.84537_84540dup (p.Asp28181Ter)
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs) rs1703664543
NM_001267550.2(TTN):c.84602G>A (p.Trp28201Ter) rs2154159779
NM_001267550.2(TTN):c.84607A>T (p.Lys28203Ter)
NM_001267550.2(TTN):c.84619del (p.Ile28207fs) rs2154159753
NM_001267550.2(TTN):c.84631del (p.Asp28211fs) rs1703651493
NM_001267550.2(TTN):c.84641_84645del (p.Met28214fs)
NM_001267550.2(TTN):c.84642del (p.Met28214fs)
NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter) rs2154159715
NM_001267550.2(TTN):c.84819del (p.Trp28273fs) rs2154159514
NM_001267550.2(TTN):c.84820dup (p.Ser28274fs) rs2154159502
NM_001267550.2(TTN):c.84897G>A (p.Trp28299Ter) rs794729296
NM_001267550.2(TTN):c.84922del (p.Gln28308fs) rs2154159416
NM_001267550.2(TTN):c.84958_84959delinsT (p.Asp28320fs) rs1703522059
NM_001267550.2(TTN):c.84969T>A (p.Tyr28323Ter)
NM_001267550.2(TTN):c.84984del (p.Phe28328fs)
NM_001267550.2(TTN):c.84984dup (p.Ala28329fs) rs2154159353
NM_001267550.2(TTN):c.85005dup (p.Val28336fs)
NM_001267550.2(TTN):c.85013_85014del (p.Glu28338fs) rs2154159323
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter) rs1703437679
NM_001267550.2(TTN):c.85180dup (p.Asp28394fs)
NM_001267550.2(TTN):c.85254del (p.Asp28419fs)
NM_001267550.2(TTN):c.85262dup (p.Arg28422fs)
NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter) rs769664554
NM_001267550.2(TTN):c.85359del (p.Pro28454fs)
NM_001267550.2(TTN):c.85408_85409del (p.Leu28470fs) rs2154159007
NM_001267550.2(TTN):c.85431del (p.Asp28478fs) rs1703325248
NM_001267550.2(TTN):c.85458del (p.Tyr28485_Tyr28486insTer) rs2154158972
NM_001267550.2(TTN):c.85486del (p.Ala28497fs) rs2154158948
NM_001267550.2(TTN):c.85493G>A (p.Trp28498Ter)
NM_001267550.2(TTN):c.85494G>A (p.Trp28498Ter)
NM_001267550.2(TTN):c.85514T>G (p.Leu28505Ter) rs1057520803
NM_001267550.2(TTN):c.85519dup (p.Met28507fs) rs1575614351
NM_001267550.2(TTN):c.85525dup (p.Ser28509fs) rs2154158897
NM_001267550.2(TTN):c.85544T>G (p.Leu28515Ter) rs886041441
NM_001267550.2(TTN):c.85546del (p.Leu28516fs) rs2154158876
NM_001267550.2(TTN):c.85589_85592del (p.Lys28530fs) rs1553562793
NM_001267550.2(TTN):c.85612_85619del (p.Glu28538fs) rs794729353
NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs) rs762286447
NM_001267550.2(TTN):c.85707_85708del (p.Cys28570fs) rs1219440385
NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter) rs1575612435
NM_001267550.2(TTN):c.85755T>A (p.Tyr28585Ter) rs1553562490
NM_001267550.2(TTN):c.85790G>A (p.Trp28597Ter)
NM_001267550.2(TTN):c.85811del (p.Pro28604fs)
NM_001267550.2(TTN):c.85860del (p.Glu28620fs) rs1575611108
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter) rs72648224
NM_001267550.2(TTN):c.86003dup (p.Thr28669fs) rs1559284676
NM_001267550.2(TTN):c.86015G>A (p.Trp28672Ter) rs1559284497
NM_001267550.2(TTN):c.86016G>A (p.Trp28672Ter) rs1553562022
NM_001267550.2(TTN):c.86036dup (p.Gly28680fs) rs2154158408
NM_001267550.2(TTN):c.86076del (p.Lys28692fs) rs1285329277
NM_001267550.2(TTN):c.86140G>T (p.Gly28714Ter)
NM_001267550.2(TTN):c.86162_86163del (p.Tyr28721fs) rs2154158304
NM_001267550.2(TTN):c.86219_86220del (p.Ser28739_Ser28740insTer)
NM_001267550.2(TTN):c.86251G>T (p.Glu28751Ter) rs772058084
NM_001267550.2(TTN):c.86290_86299del (p.Leu28764fs) rs2154158204
NM_001267550.2(TTN):c.86290_86302del (p.Ile28765fs) rs2154158200
NM_001267550.2(TTN):c.86290_86303delinsA (p.Leu28764fs) rs1064792916
NM_001267550.2(TTN):c.86333del (p.Phe28778fs)
NM_001267550.2(TTN):c.86354_86821+291del rs1559272130
NM_001267550.2(TTN):c.86392A>T (p.Arg28798Ter)
NM_001267550.2(TTN):c.86399_86403del (p.Ala28799_Tyr28800insTer)
NM_001267550.2(TTN):c.86407_86408dup (p.Thr28804fs) rs2154158109
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter) rs1553560951
NM_001267550.2(TTN):c.86441del (p.Asn28814fs)
NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter) rs794729297
NM_001267550.2(TTN):c.86570dup (p.Thr28858fs) rs2154157942
NM_001267550.2(TTN):c.86597G>A (p.Trp28866Ter)
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter) rs794729298
NM_001267550.2(TTN):c.86640C>G (p.Tyr28880Ter) rs794729298
NM_001267550.2(TTN):c.86670del (p.Ala28891fs) rs1702795017
NM_001267550.2(TTN):c.86675G>A (p.Trp28892Ter) rs745896785
NM_001267550.2(TTN):c.86676G>A (p.Trp28892Ter)
NM_001267550.2(TTN):c.86699del (p.Asn28900fs) rs2154157834
NM_001267550.2(TTN):c.86742_86745del (p.Tyr28915fs) rs1415420768
NM_001267550.2(TTN):c.86754_86755del (p.Arg28918fs)
NM_001267550.2(TTN):c.86822-1del
NM_001267550.2(TTN):c.86822-2A>G rs773710035
NM_001267550.2(TTN):c.86889G>A (p.Trp28963Ter) rs1702376984
NM_001267550.2(TTN):c.86889del (p.Trp28963fs) rs1559268818
NM_001267550.2(TTN):c.86905del (p.Asp28969fs)
NM_001267550.2(TTN):c.86911G>T (p.Gly28971Ter)
NM_001267550.2(TTN):c.86966G>A (p.Trp28989Ter) rs1702355636
NM_001267550.2(TTN):c.86975del (p.Cys28992fs)
NM_001267550.2(TTN):c.87004_87005del (p.Val29002fs)
NM_001267550.2(TTN):c.87019_87022del (p.Glu29007fs) rs1559267059
NM_001267550.2(TTN):c.87028del (p.Glu29010fs) rs1702337235
NM_001267550.2(TTN):c.87046_87049del (p.Phe29016fs) rs1575592653
NM_001267550.2(TTN):c.87077del (p.Pro29026fs)
NM_001267550.2(TTN):c.87077dup (p.Arg29027fs)
NM_001267550.2(TTN):c.87106A>T (p.Lys29036Ter)
NM_001267550.2(TTN):c.87116_87117dup (p.Glu29040Ter) rs2154156468
NM_001267550.2(TTN):c.87118+1G>A
NM_001267550.2(TTN):c.87137_87138del (p.Met29046fs) rs1702243883
NM_001267550.2(TTN):c.87179C>G (p.Ser29060Ter)
NM_001267550.2(TTN):c.87233T>G (p.Leu29078Ter) rs2154156172
NM_001267550.2(TTN):c.87238del (p.Arg29080fs)
NM_001267550.2(TTN):c.87253del (p.Lys29086fs) rs2154156150
NM_001267550.2(TTN):c.87253delinsTTA (p.Lys29086fs) rs1702209747
NM_001267550.2(TTN):c.87273dup (p.Asn29092Ter)
NM_001267550.2(TTN):c.87295_87296insT (p.Asn29099fs)
NM_001267550.2(TTN):c.87315dup (p.Glu29106fs) rs1702181550
NM_001267550.2(TTN):c.87340A>T (p.Arg29114Ter)
NM_001267550.2(TTN):c.87346_87368dup (p.Ser29123fs)
NM_001267550.2(TTN):c.87366del (p.Ser29123fs) rs2154156075
NM_001267550.2(TTN):c.87376_87383dup (p.Phe29129fs) rs1702151195
NM_001267550.2(TTN):c.87451del (p.Thr29151fs) rs2154156000
NM_001267550.2(TTN):c.87459_87460dup (p.Ser29154fs) rs2154155996
NM_001267550.2(TTN):c.87470_87471del (p.Leu29157fs) rs2154155985
NM_001267550.2(TTN):c.87505C>T (p.Gln29169Ter)
NM_001267550.2(TTN):c.87515dup (p.Asn29172fs)
NM_001267550.2(TTN):c.87532_87538del (p.Arg29178fs) rs2154155943
NM_001267550.2(TTN):c.87554G>A (p.Trp29185Ter) rs1057518275
NM_001267550.2(TTN):c.87566_87567del (p.Ser29189fs) rs2154155928
NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter) rs772121356
NM_001267550.2(TTN):c.87664dup (p.Asp29222fs) rs2154155844
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter) rs1575584918
NM_001267550.2(TTN):c.87707dup (p.Thr29237fs) rs1575583160
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.87733dup (p.Trp29245fs) rs1553553671
NM_001267550.2(TTN):c.87734G>A (p.Trp29245Ter) rs1701973330
NM_001267550.2(TTN):c.87751C>T (p.Arg29251Ter) rs794729299
NM_001267550.2(TTN):c.87764del (p.Thr29255fs) rs2154155659
NM_001267550.2(TTN):c.87816T>A (p.Tyr29272Ter)
NM_001267550.2(TTN):c.87834_87835del (p.Asp29278fs) rs2154155619
NM_001267550.2(TTN):c.87834_87837del (p.Asp29278fs)
NM_001267550.2(TTN):c.87835del (p.Arg29279fs) rs2154155616
NM_001267550.2(TTN):c.87836_87837del (p.Arg29279fs) rs2154155607
NM_001267550.2(TTN):c.87848T>G (p.Leu29283Ter)
NM_001267550.2(TTN):c.87852G>A (p.Trp29284Ter) rs1701925645
NM_001267550.2(TTN):c.87888del (p.Phe29297fs) rs1060500399
NM_001267550.2(TTN):c.87931_87935dup (p.Tyr29313fs) rs2154155550
NM_001267550.2(TTN):c.87939T>G (p.Tyr29313Ter) rs200314496
NM_001267550.2(TTN):c.87947del (p.Asn29316fs)
NM_001267550.2(TTN):c.87954del (p.Gly29319fs) rs2154155537
NM_001267550.2(TTN):c.87977del (p.Pro29326fs)
NM_001267550.2(TTN):c.88009+2T>G rs1701869111
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter) rs878854428
NM_001267550.2(TTN):c.88091_88094del (p.Gly29364fs) rs2154155280
NM_001267550.2(TTN):c.88092dup (p.Ser29365Ter)
NM_001267550.2(TTN):c.88177del (p.Thr29393fs) rs1575576927
NM_001267550.2(TTN):c.88204C>T (p.Gln29402Ter) rs1701741963
NM_001267550.2(TTN):c.88306+1G>C rs727503550
NM_001267550.2(TTN):c.88307-1G>A
NM_001267550.2(TTN):c.88313dup (p.Val29439fs) rs2154153508
NM_001267550.2(TTN):c.88422G>A (p.Trp29474Ter) rs1553547657
NM_001267550.2(TTN):c.88437dup (p.Glu29480fs) rs2154153430
NM_001267550.2(TTN):c.88521_88522del (p.Asn29507fs)
NM_001267550.2(TTN):c.88562C>A (p.Ser29521Ter) rs1436663696
NM_001267550.2(TTN):c.88594+2T>G rs1057520744
NM_001267550.2(TTN):c.88594_88595insGTAGGTGCTGAATACAGACCACTGTCATATTACATTTGCCTAAAGCTTAGTAATTTTGAACAAGTAGGCTTTAAAGAAGTACTAACATCGTGTTTTGTCCTTTCACTGATAGACAAACCAGGCCCACCTGGTGGACCAATTGAATTTAAGACTGTAACTGCTGAGAAGATCACCCTTCTCTGGCGGCCTCCAGCTGATGATGGTGGTGAAACCTGCGCCTACTATTGAGTGGTATAAAGATGATAAAGAATTACAAACCAATGCACTGGTGTGTGTTGAAAATACCACGGACCTCGCATCTATACTCATCAAAGATGCCGATCGCCTTAATAGTGGATGCTATGAATTAAAACTAAGGAATGCCATGGGCTCAGCCTCAGCCACCATCAGAGTACAGATCCTTGGTAGGTGCTGAATACAGACCACTGTCATATTACATTTGCCTAAAGCTTAGTAATTTTGAACAAGTAGGCTTTAAAGAAGTACTAACATCGTGTTTTGTCCTTTCACTGATAG (p.Asp29532delinsGlyArgCysTer)
NM_001267550.2(TTN):c.88703_88704del (p.His29568fs) rs794729360
NM_001267550.2(TTN):c.88721del (p.Arg29574fs) rs1575547155
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter) rs766450773
NM_001267550.2(TTN):c.88852_88855del (p.Glu29618fs) rs2154152955
NM_001267550.2(TTN):c.88895-1G>A rs1575540533
NM_001267550.2(TTN):c.88954_88955del (p.Val29652fs)
NM_001267550.2(TTN):c.88979_88985del (p.Asp29660fs) rs794727468
NM_001267550.2(TTN):c.89006del (p.Phe29669fs) rs794729361
NM_001267550.2(TTN):c.89006dup (p.Leu29670fs) rs794729361
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89053A>T (p.Lys29685Ter)
NM_001267550.2(TTN):c.89075_89078del (p.Arg29692fs)
NM_001267550.2(TTN):c.89077C>T (p.Gln29693Ter)
NM_001267550.2(TTN):c.89083del (p.Lys29694_Val29695insTer) rs2154152514
NM_001267550.2(TTN):c.89118C>A (p.Tyr29706Ter) rs1700331549
NM_001267550.2(TTN):c.89121_89122del (p.Arg29707fs) rs2154152480
NM_001267550.2(TTN):c.89144dup (p.Gln29716fs)
NM_001267550.2(TTN):c.89150del (p.Gly29717fs) rs2154152449
NM_001267550.2(TTN):c.89178C>G (p.Tyr29726Ter)
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) rs1553543413
NM_001267550.2(TTN):c.89222_89226del (p.Ile29741fs) rs1575534947
NM_001267550.2(TTN):c.89270del (p.Lys29757fs) rs794729362
NM_001267550.2(TTN):c.89275_89278del (p.Val29759fs)
NM_001267550.2(TTN):c.89280T>A (p.Tyr29760Ter) rs794729385
NM_001267550.2(TTN):c.89306_89307del (p.Tyr29769fs)
NM_001267550.2(TTN):c.89307T>A (p.Tyr29769Ter)
NM_001267550.2(TTN):c.89307T>G (p.Tyr29769Ter)
NM_001267550.2(TTN):c.89322_89326del (p.Gln29775fs)
NM_001267550.2(TTN):c.89332del (p.Glu29778fs)
NM_001267550.2(TTN):c.89335G>T (p.Glu29779Ter) rs2154152175
NM_001267550.2(TTN):c.89342G>A (p.Trp29781Ter)
NM_001267550.2(TTN):c.8938_8939insTTGG (p.Ala2980fs)
NM_001267550.2(TTN):c.8938del (p.Ala2980fs)
NM_001267550.2(TTN):c.89425del (p.Arg29809fs)
NM_001267550.2(TTN):c.89445_89446del (p.Ala29816fs)
NM_001267550.2(TTN):c.89449G>T (p.Gly29817Ter)
NM_001267550.2(TTN):c.89475_89478del (p.Glu29826fs)
NM_001267550.2(TTN):c.89503+1G>C rs1559218619
NM_001267550.2(TTN):c.89504-2_89509del
NM_001267550.2(TTN):c.89553del (p.Ala29853fs) rs1575529262
NM_001267550.2(TTN):c.89619dup (p.Arg29874fs)
NM_001267550.2(TTN):c.89625del (p.Asp29876fs) rs1559216544
NM_001267550.2(TTN):c.89658C>A (p.Tyr29886Ter) rs1700085960
NM_001267550.2(TTN):c.89684C>G (p.Ser29895Ter)
NM_001267550.2(TTN):c.89786_89787dup (p.Val29930fs)
NM_001267550.2(TTN):c.89827A>T (p.Lys29943Ter) rs2154151737
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) rs727505224
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter) rs1060500457
NM_001267550.2(TTN):c.89882_89885del (p.Gly29961fs) rs2154151697
NM_001267550.2(TTN):c.89884G>T (p.Gly29962Ter) rs2154151700
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.89940del (p.Trp29980fs)
NM_001267550.2(TTN):c.89979del (p.Lys29993fs)
NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter) rs376543931
NM_001267550.2(TTN):c.90058G>T (p.Glu30020Ter) rs1699956677
NM_001267550.2(TTN):c.90085G>T (p.Glu30029Ter) rs1699948037
NM_001267550.2(TTN):c.90113C>G (p.Ser30038Ter)
NM_001267550.2(TTN):c.90135dup (p.Ser30046fs)
NM_001267550.2(TTN):c.90152G>A (p.Trp30051Ter)
NM_001267550.2(TTN):c.90195T>A (p.Tyr30065Ter) rs920201335
NM_001267550.2(TTN):c.90208_90209insSVAelement
NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter) rs786205538
NM_001267550.2(TTN):c.90231G>A (p.Trp30077Ter) rs2154151450
NM_001267550.2(TTN):c.90249del (p.Ser30083fs) rs2154151435
NM_001267550.2(TTN):c.90306_90307del (p.Arg30102fs) rs2154151379
NM_001267550.2(TTN):c.90358del (p.Ile30120fs) rs1699849996
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter) rs1553539995
NM_001267550.2(TTN):c.90388G>T (p.Glu30130Ter) rs2154151318
NM_001267550.2(TTN):c.90415_90421dup (p.Val30141fs) rs1699828609
NM_001267550.2(TTN):c.90418C>T (p.Gln30140Ter) rs2154151302
NM_001267550.2(TTN):c.90486_90489del (p.Ile30163fs) rs2154151260
NM_001267550.2(TTN):c.90495G>A (p.Trp30165Ter)
NM_001267550.2(TTN):c.90587del (p.Lys30196fs) rs397517749
NM_001267550.2(TTN):c.90587dup (p.Glu30197fs)
NM_001267550.2(TTN):c.90594dup (p.Gly30199fs) rs1553539686
NM_001267550.2(TTN):c.90605dup (p.Tyr30202Ter) rs2154151177
NM_001267550.2(TTN):c.90623dup (p.Asn30208fs) rs1553539620
NM_001267550.2(TTN):c.90628del (p.Val30210fs) rs2154151163
NM_001267550.2(TTN):c.90653_90654del (p.Thr30218fs) rs794729363
NM_001267550.2(TTN):c.90657del (p.Ile30220fs)
NM_001267550.2(TTN):c.90696del (p.Arg30233fs) rs1699711208
NM_001267550.2(TTN):c.90699del (p.Phe30234fs) rs2154151080
NM_001267550.2(TTN):c.90702del (p.Phe30234fs)
NM_001267550.2(TTN):c.90737G>A (p.Trp30246Ter) rs2154151058
NM_001267550.2(TTN):c.90739del (p.Asp30247fs)
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter) rs1060500495
NM_001267550.2(TTN):c.90841A>T (p.Arg30281Ter)
NM_001267550.2(TTN):c.90844del (p.Thr30282fs) rs2154150991
NM_001267550.2(TTN):c.90883dup (p.Tyr30295fs) rs1699641688
NM_001267550.2(TTN):c.90910A>T (p.Arg30304Ter) rs773538148
NM_001267550.2(TTN):c.90914dup (p.Tyr30305Ter)
NM_001267550.2(TTN):c.90915C>G (p.Tyr30305Ter)
NM_001267550.2(TTN):c.90994_90997dup (p.Ile30333fs) rs1559200975
NM_001267550.2(TTN):c.91025C>A (p.Ser30342Ter) rs2154150847
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs) rs769422187
NM_001267550.2(TTN):c.91101_91102dup (p.Ser30368fs)
NM_001267550.2(TTN):c.9112T>C (p.Tyr3038His) rs886037909
NM_001267550.2(TTN):c.91192del (p.Arg30398fs)
NM_001267550.2(TTN):c.91257del (p.Val30420fs)
NM_001267550.2(TTN):c.91270+1G>A rs2154150675
NM_001267550.2(TTN):c.91312del (p.Thr30438fs)
NM_001267550.2(TTN):c.91343_91344insA (p.Arg30448_Asp30449insTer) rs2154150232
NM_001267550.2(TTN):c.91445_91446del (p.Thr30482fs) rs1699247877
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter) rs727504646
NM_001267550.2(TTN):c.91551_91552del (p.Arg30518_Asp30519insTer)
NM_001267550.2(TTN):c.91564+2T>C rs1699208458
NM_001267550.2(TTN):c.91589del (p.Pro30530fs)
NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs) rs1559187287
NM_001267550.2(TTN):c.91655del (p.Gly30552fs) rs1698781465
NM_001267550.2(TTN):c.91669C>T (p.Arg30557Ter) rs1553536305
NM_001267550.2(TTN):c.91678_91685dup (p.Lys30562fs) rs2154148938
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600fs) rs886042502
NM_001267550.2(TTN):c.9189_9190del (p.His3063_Ile3064insTer)
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter) rs1698600051
NM_001267550.2(TTN):c.91965C>A (p.Tyr30655Ter) rs1060500402
NM_001267550.2(TTN):c.91977del (p.Lys30659fs)
NM_001267550.2(TTN):c.91993del (p.Ala30666fs)
NM_001267550.2(TTN):c.92017A>T (p.Lys30673Ter) rs2154148429
NM_001267550.2(TTN):c.92049del (p.Lys30683fs)
NM_001267550.2(TTN):c.92063del (p.Asn30688fs)
NM_001267550.2(TTN):c.92079dup (p.Val30694fs) rs2154148371
NM_001267550.2(TTN):c.92146C>T (p.Gln30716Ter)
NM_001267550.2(TTN):c.92152+1G>C
NM_001267550.2(TTN):c.92169del (p.Gly30724fs)
NM_001267550.2(TTN):c.92173dup (p.Ile30725fs)
NM_001267550.2(TTN):c.92236_92237del (p.Asp30746fs) rs2154148134
NM_001267550.2(TTN):c.92284_92288del (p.Lys30762fs) rs756367933
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs) rs756367933
NM_001267550.2(TTN):c.92294del (p.Arg30765fs)
NM_001267550.2(TTN):c.92298G>A (p.Trp30766Ter)
NM_001267550.2(TTN):c.92498del (p.Thr30833fs) rs2154147918
NM_001267550.2(TTN):c.92504del (p.Lys30835fs) rs2154147910
NM_001267550.2(TTN):c.92519T>G (p.Leu30840Ter)
NM_001267550.2(TTN):c.92526G>A (p.Trp30842Ter) rs2154147893
NM_001267550.2(TTN):c.92569_92570del (p.Ile30857fs) rs2154147864
NM_001267550.2(TTN):c.92603G>A (p.Trp30868Ter) rs2154147843
NM_001267550.2(TTN):c.92604G>A (p.Trp30868Ter)
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs) rs886039145
NM_001267550.2(TTN):c.92652_92659del (p.Asp30885fs) rs1559175090
NM_001267550.2(TTN):c.92659C>T (p.Gln30887Ter) rs1305222903
NM_001267550.2(TTN):c.92671G>T (p.Glu30891Ter)
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.92688_92691dup (p.Ala30898Ter)
NM_001267550.2(TTN):c.92795_92798del (p.Lys30932fs)
NM_001267550.2(TTN):c.92797C>T (p.Gln30933Ter) rs1553532356
NM_001267550.2(TTN):c.92884_92887del (p.Pro30962fs) rs1698201730
NM_001267550.2(TTN):c.92962A>T (p.Arg30988Ter) rs1698169393
NM_001267550.2(TTN):c.93034A>T (p.Lys31012Ter) rs2154147529
NM_001267550.2(TTN):c.93050del (p.Pro31017fs)
NM_001267550.2(TTN):c.93091G>T (p.Gly31031Ter) rs907669905
NM_001267550.2(TTN):c.93106dup (p.Met31036fs) rs2154147449
NM_001267550.2(TTN):c.93119dup (p.Leu31041fs)
NM_001267550.2(TTN):c.93145_93146del (p.His31049fs)
NM_001267550.2(TTN):c.93153T>G (p.Tyr31051Ter)
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93181del (p.Arg31061fs) rs2154147379
NM_001267550.2(TTN):c.93288T>A (p.Tyr31096Ter)
NM_001267550.2(TTN):c.93337C>T (p.Gln31113Ter) rs1454572839
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.93541G>T (p.Glu31181Ter) rs1243301263
NM_001267550.2(TTN):c.93592del (p.Arg31198fs)
NM_001267550.2(TTN):c.93641del (p.Thr31214fs)
NM_001267550.2(TTN):c.93735del (p.Lys31246_Val31247insTer)
NM_001267550.2(TTN):c.93735dup (p.Lys31246fs)
NM_001267550.2(TTN):c.93754del (p.Glu31252fs)
NM_001267550.2(TTN):c.93764_93765del (p.Arg31255fs)
NM_001267550.2(TTN):c.93766del (p.Glu31258fs)
NM_001267550.2(TTN):c.93772G>T (p.Glu31258Ter)
NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter) rs1553528016
NM_001267550.2(TTN):c.93784_93785insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGACAGATCGAG (p.Arg31261_Val31262insAlaProSerProValSerLeuSerLeuSerArgLeuProLeuProLeuProSerProSerProSerProValSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluThrAspArg) rs2154146971
NM_001267550.2(TTN):c.93853A>T (p.Arg31285Ter)
NM_001267550.2(TTN):c.93897del (p.Phe31299fs) rs397517758
NM_001267550.2(TTN):c.93956C>A (p.Ser31319Ter) rs2154146843
NM_001267550.2(TTN):c.94032C>A (p.Tyr31344Ter)
NM_001267550.2(TTN):c.94067G>A (p.Trp31356Ter)
NM_001267550.2(TTN):c.94128del (p.Lys31375_Tyr31376insTer) rs2154146720
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94182_94183insAGCAGCT (p.Leu31395fs) rs1219954334
NM_001267550.2(TTN):c.94220-1G>A rs1553525592
NM_001267550.2(TTN):c.94220-2A>G
NM_001267550.2(TTN):c.94263del (p.Ala31422fs)
NM_001267550.2(TTN):c.94266dup (p.Asn31423fs)
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter) rs1697595705
NM_001267550.2(TTN):c.94331G>A (p.Trp31444Ter) rs1429264347
NM_001267550.2(TTN):c.94332G>A (p.Trp31444Ter) rs1697578690
NM_001267550.2(TTN):c.94365G>A (p.Trp31455Ter)
NM_001267550.2(TTN):c.94371del (p.Glu31458fs) rs1553524807
NM_001267550.2(TTN):c.94405A>T (p.Lys31469Ter) rs1553524697
NM_001267550.2(TTN):c.94407del (p.Lys31469_Val31470insTer)
NM_001267550.2(TTN):c.94418T>A (p.Leu31473Ter)
NM_001267550.2(TTN):c.94437T>G (p.Tyr31479Ter)
NM_001267550.2(TTN):c.94448del (p.Thr31483fs) rs2154146389
NM_001267550.2(TTN):c.94562C>G (p.Ser31521Ter)
NM_001267550.2(TTN):c.94581G>A (p.Trp31527Ter)
NM_001267550.2(TTN):c.94747_94748del (p.Arg31583fs) rs1697311515
NM_001267550.2(TTN):c.94752_94753dup (p.Leu31585fs)
NM_001267550.2(TTN):c.94788del (p.Ser31597fs)
NM_001267550.2(TTN):c.94805_94806del (p.Pro31602fs)
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter) rs1060500435
NM_001267550.2(TTN):c.94827C>G (p.Tyr31609Ter)
NM_001267550.2(TTN):c.94903_94904del (p.Leu31635fs)
NM_001267550.2(TTN):c.94939del (p.Ile31647fs) rs1553521978
NM_001267550.2(TTN):c.94991T>A (p.Leu31664Ter) rs2154145831
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter) rs1322596650
NM_001267550.2(TTN):c.95023_95024del (p.Ile31675fs) rs1697105934
NM_001267550.2(TTN):c.95051_95070del (p.Gly31684fs) rs2154145769
NM_001267550.2(TTN):c.95055del (p.Lys31685fs) rs1174834630
NM_001267550.2(TTN):c.95062_95063del (p.Leu31688fs) rs2154145784
NM_001267550.2(TTN):c.95063T>A (p.Leu31688Ter) rs794729538
NM_001267550.2(TTN):c.95063T>G (p.Leu31688Ter) rs794729538
NM_001267550.2(TTN):c.95075dup (p.Asn31692fs) rs1697077852
NM_001267550.2(TTN):c.95119+1G>C
NM_001267550.2(TTN):c.95120-2A>G rs2154145628
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95163_95176del (p.Gln31722fs)
NM_001267550.2(TTN):c.95164C>T (p.Gln31722Ter) rs2154145603
NM_001267550.2(TTN):c.95200del (p.Glu31734fs)
NM_001267550.2(TTN):c.95246del (p.Glu31749fs) rs1696922090
NM_001267550.2(TTN):c.95264G>A (p.Trp31755Ter) rs1696912764
NM_001267550.2(TTN):c.95266del (p.Trp31755_Val31756insTer) rs2154145523
NM_001267550.2(TTN):c.95289_95298del (p.Thr31764fs) rs1575442120
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.95370dup (p.Gly31791fs) rs2154145442
NM_001267550.2(TTN):c.95415_95416+2del rs769407533
NM_001267550.2(TTN):c.95446G>T (p.Glu31816Ter)
NM_001267550.2(TTN):c.95469dup (p.Ile31824fs) rs1553520581
NM_001267550.2(TTN):c.95490dup (p.Pro31831fs) rs2154145209
NM_001267550.2(TTN):c.9553G>T (p.Glu3185Ter)
NM_001267550.2(TTN):c.95576_95577del (p.Lys31859fs)
NM_001267550.2(TTN):c.95669del (p.Gly31890fs) rs2154145062
NM_001267550.2(TTN):c.95722+1G>C
NM_001267550.2(TTN):c.95723-2A>C rs2154144335
NM_001267550.2(TTN):c.95735del (p.Pro31912fs) rs1553519454
NM_001267550.2(TTN):c.95738del (p.Pro31913fs)
NM_001267550.2(TTN):c.95747_95753del (p.Pro31916fs)
NM_001267550.2(TTN):c.95770del (p.His31924fs) rs794729364
NM_001267550.2(TTN):c.95772_95773del (p.His31924fs) rs1060500544
NM_001267550.2(TTN):c.95802del (p.Met31934fs)
NM_001267550.2(TTN):c.95805C>A (p.Tyr31935Ter) rs375076970
NM_001267550.2(TTN):c.95806del (p.Asp31936fs)
NM_001267550.2(TTN):c.95829_95830insG (p.Tyr31944fs)
NM_001267550.2(TTN):c.95845C>T (p.Gln31949Ter) rs2154144237
NM_001267550.2(TTN):c.95848G>T (p.Glu31950Ter)
NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter) rs2154144218
NM_001267550.2(TTN):c.95992G>T (p.Glu31998Ter) rs775585263
NM_001267550.2(TTN):c.95992del (p.Glu31998fs) rs2154144138
NM_001267550.2(TTN):c.96069dup (p.Val32024fs) rs878854432
NM_001267550.2(TTN):c.96105_96106insACAGGAG (p.Val32036fs) rs1695870572
NM_001267550.2(TTN):c.96110_96113del (p.Ser32037fs)
NM_001267550.2(TTN):c.96158_96177dup (p.Ile32060fs)
NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs) rs1553518529
NM_001267550.2(TTN):c.96260_96279dup (p.Lys32094fs) rs2154143867
NM_001267550.2(TTN):c.96303dup (p.Val32102fs) rs1695788718
NM_001267550.2(TTN):c.9630del (p.Arg3211fs)
NM_001267550.2(TTN):c.96377G>A (p.Trp32126Ter) rs1695634838
NM_001267550.2(TTN):c.96420C>A (p.Tyr32140Ter) rs1009407656
NM_001267550.2(TTN):c.96464del (p.Val32155fs) rs2154143564
NM_001267550.2(TTN):c.96525C>G (p.Tyr32175Ter)
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter) rs2154143423
NM_001267550.2(TTN):c.96679del (p.Leu32227fs) rs2154143419
NM_001267550.2(TTN):c.96680_96684del (p.Leu32227fs)
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs) rs2154143418
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter) rs781171206
NM_001267550.2(TTN):c.96731del (p.Ala32244fs) rs2154143380
NM_001267550.2(TTN):c.96742A>T (p.Arg32248Ter)
NM_001267550.2(TTN):c.96746G>A (p.Trp32249Ter) rs2154143363
NM_001267550.2(TTN):c.96824_96831del (p.Leu32274_Phe32275insTer) rs2154143307
NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)
NM_001267550.2(TTN):c.96849del (p.Gly32284fs) rs2154143293
NM_001267550.2(TTN):c.96870_96871del (p.Glu32290fs) rs1695435412
NM_001267550.2(TTN):c.96904+1G>A rs1553517092
NM_001267550.2(TTN):c.96905-1G>A
NM_001267550.2(TTN):c.96909dup (p.Pro32304fs) rs1553516759
NM_001267550.2(TTN):c.96937C>T (p.Gln32313Ter) rs1695289576
NM_001267550.2(TTN):c.96944_96945dup (p.Ile32316fs)
NM_001267550.2(TTN):c.96997del (p.Arg32333fs) rs1695259740
NM_001267550.2(TTN):c.97006_97021del (p.Pro32336fs) rs2154142958
NM_001267550.2(TTN):c.97011del (p.Ala32338fs)
NM_001267550.2(TTN):c.97025_97035del (p.Phe32341_Phe32342insTer)
NM_001267550.2(TTN):c.9703+1G>A
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs) rs1064793419
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001267550.2(TTN):c.97134del (p.Glu32380fs)
NM_001267550.2(TTN):c.97141_97145del (p.Leu32381fs)
NM_001267550.2(TTN):c.97179_97183del (p.Lys32393fs)
NM_001267550.2(TTN):c.97192+1G>C
NM_001267550.2(TTN):c.97193-2A>C
NM_001267550.2(TTN):c.97263G>A (p.Trp32421Ter) rs2154142586
NM_001267550.2(TTN):c.97294_97295del (p.Leu32432fs) rs2154142563
NM_001267550.2(TTN):c.97312G>T (p.Glu32438Ter)
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter) rs767837705
NM_001267550.2(TTN):c.97358C>G (p.Ser32453Ter)
NM_001267550.2(TTN):c.97395del (p.Glu32466fs) rs1553515473
NM_001267550.2(TTN):c.97405_97408dup (p.Tyr32470Ter)
NM_001267550.2(TTN):c.97451_97452del (p.Ser32484fs) rs878854433
NM_001267550.2(TTN):c.97470_97492+248del rs1559108136
NM_001267550.2(TTN):c.97472_97473del (p.Ile32491fs)
NM_001267550.2(TTN):c.97475_97476del (p.Glu32492fs) rs2154142418
NM_001267550.2(TTN):c.97506_97507insTT (p.Pro32503fs) rs1694530382
NM_001267550.2(TTN):c.97520del (p.Gln32507fs) rs1694523513
NM_001267550.2(TTN):c.97523_97527del (p.Ile32508fs) rs794729395
NM_001267550.2(TTN):c.97555dup (p.Thr32519fs)
NM_001267550.2(TTN):c.97588dup (p.Gln32530fs) rs2154141656
NM_001267550.2(TTN):c.97629del (p.Asp32544fs)
NM_001267550.2(TTN):c.97633C>T (p.Arg32545Ter) rs780653613
NM_001267550.2(TTN):c.97637G>A (p.Trp32546Ter)
NM_001267550.2(TTN):c.97647_97663dup (p.Thr32555delinsLysIleLysTyrLeuTer) rs2154141588
NM_001267550.2(TTN):c.97813C>T (p.Gln32605Ter) rs1301441435
NM_001267550.2(TTN):c.97855_97871dup (p.Glu32625fs)
NM_001267550.2(TTN):c.97927del (p.Asp32643fs)
NM_001267550.2(TTN):c.97950dup (p.Asn32651Ter) rs2154140546
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
NM_001267550.2(TTN):c.98019_98031dup (p.Cys32678fs)
NM_001267550.2(TTN):c.98072del (p.Gly32691fs)
NM_001267550.2(TTN):c.98077_98080del (p.Val32693fs)
NM_001267550.2(TTN):c.98098+1G>T
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter) rs727504679
NM_001267550.2(TTN):c.98136del (p.Gly32713fs) rs2154140292
NM_001267550.2(TTN):c.98164del (p.Ile32722fs)
NM_001267550.2(TTN):c.98168_98169del (p.Arg32723fs) rs2154140269
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs) rs1275153634
NM_001267550.2(TTN):c.98299del (p.Arg32767fs) rs772061676
NM_001267550.2(TTN):c.98324del (p.Leu32775fs) rs2154140145
NM_001267550.2(TTN):c.98421_98422insGG (p.Ile32808fs) rs2154140080
NM_001267550.2(TTN):c.98432_98433dup (p.Ser32812fs)
NM_001267550.2(TTN):c.98450G>A (p.Trp32817Ter) rs2154140054
NM_001267550.2(TTN):c.98500del (p.Glu32834fs) rs2154140017
NM_001267550.2(TTN):c.98515_98568del (p.Pro32839_Val32856del) rs1693333622
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter) rs727504550
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) rs553821887
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro) rs587780495
NM_001267550.2(TTN):c.98623C>T (p.Gln32875Ter) rs1693309648
NM_001267550.2(TTN):c.98625_98634del (p.Phe32876fs) rs2154139897
NM_001267550.2(TTN):c.98627_98628del (p.Phe32876fs)
NM_001267550.2(TTN):c.98637del (p.Ser32879fs)
NM_001267550.2(TTN):c.98660del (p.Pro32887fs) rs1553509300
NM_001267550.2(TTN):c.98774del (p.Gly32925fs) rs2154139656
NM_001267550.2(TTN):c.98803G>T (p.Glu32935Ter) rs1407053984
NM_001267550.2(TTN):c.98810_98811del (p.Lys32937fs)
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.98989+2T>C
NM_001267550.2(TTN):c.98990-2A>C rs2154139399
NM_001267550.2(TTN):c.98992A>T (p.Lys32998Ter)
NM_001267550.2(TTN):c.99033del (p.Asp33013fs)
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter) rs771511344
NM_001267550.2(TTN):c.99038_99041dup (p.Ser33014delinsArgTer)
NM_001267550.2(TTN):c.99041del (p.Ser33014fs) rs2154139357
NM_001267550.2(TTN):c.99063del (p.Lys33021fs) rs1445687820
NM_001267550.2(TTN):c.99113_99114del (p.Arg33038fs) rs2154139316
NM_001267550.2(TTN):c.99156dup (p.Ile33053fs) rs2154139263
NM_001267550.2(TTN):c.99181G>T (p.Gly33061Ter)
NM_001267550.2(TTN):c.99184_99185dup (p.Leu33063fs) rs794729396
NM_001267550.2(TTN):c.99256A>T (p.Arg33086Ter)
NM_001267550.2(TTN):c.99289+1G>C rs2154139165
NM_001267550.2(TTN):c.99315del (p.Glu33106fs)
NM_001267550.2(TTN):c.99362C>G (p.Ser33121Ter)
NM_001267550.2(TTN):c.99366C>A (p.Cys33122Ter)
NM_001267550.2(TTN):c.99405_99406del (p.Tyr33135_Arg33136delinsTer)
NM_001267550.2(TTN):c.99463dup (p.Thr33155fs)
NM_001267550.2(TTN):c.99487G>T (p.Glu33163Ter)
NM_001267550.2(TTN):c.99493C>T (p.Gln33165Ter)
NM_001267550.2(TTN):c.99498del (p.Asp33167fs)
NM_001267550.2(TTN):c.99583C>T (p.Gln33195Ter)
NM_001267550.2(TTN):c.99588_99595del (p.Phe33196fs) rs1553504889
NM_001267550.2(TTN):c.99610G>T (p.Glu33204Ter) rs1490008675
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.99783dup (p.Lys33262Ter) rs1575324979
NM_001267550.2(TTN):c.99786_99790del (p.Thr33263fs) rs2154138232
NM_001267550.2(TTN):c.99797_99800dup (p.Tyr33268fs)
NM_001267550.2(TTN):c.99853_99854insGGGAAATACAAATTCCAGCTCAGCAATGTTTTTGGAACAGTTGATGCCATCCTTGATG (p.Val33285delinsGlyGluIleGlnIleProAlaGlnGlnCysPheTrpAsnSerTer)
NM_001267550.2(TTN):c.99865+1G>T
NM_001267550.2(TTN):c.99874del (p.Asp33292fs)
NM_001267550.2(TTN):c.9988+2T>C rs1298389127
NM_001267550.2(TTN):c.99906_99916del (p.Leu33304fs)
NM_001267550.2(TTN):c.99909del (p.Leu33303_Leu33304insTer)
NM_001267550.2(TTN):c.99935G>A (p.Trp33312Ter) rs2154138051
NM_001267550.2(TTN):c.[106531+2T>A];[107867delT]
NM_001267550.2(TTN):c.[32471-1G>A];[55732+5G>C]
NM_001267550.2(TTN):c.[39547+3A>G];[42151+1G>C]
NM_001267550.2(TTN):c.[42315_42318delGAAA];[67349-2A>C]
NM_001267550.2(TTN):c.[62674G>A];[68984A>C]
NM_001271208.1(NEB):c.21103delG rs1553686994
NM_001271208.1(NEB):c.7291G>A rs767302772
NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA]
NM_001272071.2(AP1S2):c.-1+1G>A rs1934288587
NM_001272071.2(AP1S2):c.21del (p.Phe7fs)
NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs) rs1933972061
NM_001278116.2(L1CAM):c.1231G>T (p.Gly411Trp)
NM_001278116.2(L1CAM):c.139_140del (p.Val47fs) rs2064782292
NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs)
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) rs886041102
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys)
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His) rs2148495027
NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs)
NM_001278116.2(L1CAM):c.2848_2849del (p.Gly950fs)
NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter)
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) rs1603277433
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) rs782163019
NM_001282531.3(ADNP):c.1046_1047del (p.Leu349fs) rs1981065982
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter) rs886056775
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs) rs1555810376
NM_001282531.3(ADNP):c.1265dup (p.Gln423fs) rs1600932676
NM_001282531.3(ADNP):c.1310dup (p.Gly438fs) rs2122753883
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly) rs2122752568
NM_001282531.3(ADNP):c.1717del (p.Asp573fs) rs1555810193
NM_001282531.3(ADNP):c.2000G>T (p.Cys667Phe)
NM_001282531.3(ADNP):c.201G>C (p.Gln67His) rs1555812161
NM_001282531.3(ADNP):c.2089dup (p.Gln697fs) rs2122747616
NM_001282531.3(ADNP):c.2129dup (p.Ser711fs) rs1980913274
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer) rs1600930164
NM_001282531.3(ADNP):c.2163_2164dup (p.Met722fs) rs2122746369
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2193_2197delinsA (p.Leu732fs)
NM_001282531.3(ADNP):c.2213dup (p.Pro739fs)
NM_001282531.3(ADNP):c.2278G>T (p.Glu760Ter) rs1221864735
NM_001282531.3(ADNP):c.2287del (p.Ser763fs) rs1555809919
NM_001282531.3(ADNP):c.2330_2333del (p.Lys777fs)
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter) rs1980763449
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)
NM_001282531.3(ADNP):c.321del (p.Asn108fs) rs2122764752
NM_001282531.3(ADNP):c.443_446del (p.Lys148fs)
NM_001282531.3(ADNP):c.64dup (p.Ile22fs) rs1982229334
NM_001282531.3(ADNP):c.709del (p.Val237fs) rs1981116316
NM_001282531.3(ADNP):c.833dup (p.Lys279fs)
NM_001286535.2(RAD9B):c.1060A>G (p.Ser354Gly) rs747100389
NM_001286535.2(RAD9B):c.336A>G (p.Ile112Met) rs1593037878
NM_001286535.2(RAD9B):c.645T>A (p.Phe215Leu) rs1593083585
NM_001286535.2(RAD9B):c.661G>A (p.Gly221Arg) rs763079713
NM_001289396.1:c.[3495G>C(;)3917G>A]
NM_001347721.2(DYRK1A):c.1000_1001del (p.Asp334fs) rs2148619635
NM_001347721.2(DYRK1A):c.1010C>T (p.Ser337Phe) rs1555985649
NM_001347721.2(DYRK1A):c.1072-1G>A
NM_001347721.2(DYRK1A):c.1072-2A>T rs2053260627
NM_001347721.2(DYRK1A):c.1072del
NM_001347721.2(DYRK1A):c.1212_1213insTAA (p.Glu405Ter)
NM_001347721.2(DYRK1A):c.1213-2A>G rs1601315812
NM_001347721.2(DYRK1A):c.1224dup (p.Pro409fs)
NM_001347721.2(DYRK1A):c.1235G>A (p.Arg412His) rs202011970
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln) rs797045041
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs) rs1555990958
NM_001347721.2(DYRK1A):c.1837C>T (p.Gln613Ter)
NM_001347721.2(DYRK1A):c.196_200del (p.Pro65_Leu66insTer)
NM_001347721.2(DYRK1A):c.208dup (p.Arg70fs)
NM_001347721.2(DYRK1A):c.301-2A>C
NM_001347721.2(DYRK1A):c.471del (p.Gly159fs) rs2052612564
NM_001347721.2(DYRK1A):c.476G>T (p.Gly159Val) rs1064796406
NM_001347721.2(DYRK1A):c.490-1G>C
NM_001347721.2(DYRK1A):c.506A>G (p.Asp169Gly) rs1131691866
NM_001347721.2(DYRK1A):c.536A>T (p.Lys179Ile) rs797044524
NM_001347721.2(DYRK1A):c.536_538del (p.Lys179del) rs2052872878
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) rs1064796367
NM_001347721.2(DYRK1A):c.593T>C (p.Leu198Pro)
NM_001347721.2(DYRK1A):c.637+2_637+13del
NM_001347721.2(DYRK1A):c.638-1G>T rs2148612254
NM_001347721.2(DYRK1A):c.638-6T>C rs2148612226
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg) rs2148612918
NM_001347721.2(DYRK1A):c.830G>A (p.Cys277Tyr) rs2148612925
NM_001347721.2(DYRK1A):c.840del (p.Lys280fs)
NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe) rs797044526
NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val) rs797045540
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser) rs1569376809
NM_001347721.2(DYRK1A):c.924+1G>A rs2148613196
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001347721.2(DYRK1A):c.925-1G>C rs2148619382
NM_001347721.2(DYRK1A):c.931_932del (p.Gln311fs) rs2148619406
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg) rs1569380375
NM_001347721.2(DYRK1A):c.948_949insGG (p.Phe317fs)
NM_001347721.2(DYRK1A):c.953A>G (p.Tyr318Cys) rs1555985554
NM_001349338.3(FOXP1):c.622C>T (p.Gln208Ter) rs1553709881
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1439G>C (p.Arg480Thr) rs1569240005
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) rs1057520719
NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs) rs1555380716
NM_001365999.1(SZT2):c.1091-1G>A rs1652173183
NM_001365999.1(SZT2):c.1108_1111del (p.Phe370fs)
NM_001365999.1(SZT2):c.1513C>T (p.Gln505Ter)
NM_001365999.1(SZT2):c.153+1G>A rs1649902998
NM_001365999.1(SZT2):c.4699del (p.Leu1567fs)
NM_001365999.1(SZT2):c.498G>T (p.Gln166His) rs1553138869
NM_001365999.1(SZT2):c.5088+2T>C rs552956642
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001365999.1(SZT2):c.6139C>T (p.Arg2047Ter) rs766341332
NM_001365999.1(SZT2):c.7070T>A (p.Leu2357Ter)
NM_001365999.1(SZT2):c.7488dup (p.Asp2497fs)
NM_001365999.1(SZT2):c.8659C>T (p.Arg2887Ter) rs200178393
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001366521.1(ATP2B1):c.2938G>T (p.Val980Leu) rs370810713
NM_001366521.1(ATP2B1):c.3060+2T>G rs2135942244
NM_001367561.1(DOCK7):c.1005_1011del (p.Pro336fs)
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter) rs1057520100
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter) rs758111714
NM_001367561.1(DOCK7):c.1519+1G>A
NM_001367561.1(DOCK7):c.2200-2A>G
NM_001367561.1(DOCK7):c.2431+1G>A
NM_001367561.1(DOCK7):c.2432-2A>C rs760580647
NM_001367561.1(DOCK7):c.2596+1G>C
NM_001367561.1(DOCK7):c.2767-1G>A rs1645656856
NM_001367561.1(DOCK7):c.2949+2T>C
NM_001367561.1(DOCK7):c.2977T>C (p.Trp993Arg) rs1645575152
NM_001367561.1(DOCK7):c.3187-31_3274del rs2149393215
NM_001367561.1(DOCK7):c.4924-1G>A rs2149301822
NM_001367561.1(DOCK7):c.5463dup (p.Gln1822fs) rs1571266478
NM_001367561.1(DOCK7):c.5493+1G>T
NM_001367561.1(DOCK7):c.5724+1G>A rs2149260122
NM_001367561.1(DOCK7):c.5724+1G>T
NM_001367561.1(DOCK7):c.5725-2A>G
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs) rs1569295677
NM_001367721.1(CASK):c.2156-1G>A rs1569291261
NM_001367721.1(CASK):c.2236+1delinsAT rs1555975523
NM_001367721.1(CASK):c.2521-2A>G rs398122845
NM_001367721.1(CASK):c.533-2A>G rs1569380062
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001368882.1(COL13A1):c.2022+1G>C
NM_001368882.1(COL13A1):c.457G>T (p.Glu153Ter)
NM_001368882.1(COL13A1):c.513del (p.Gly172fs) rs1564932829
NM_001368882.1(COL13A1):c.685-1164T>C rs1554943789
NM_001368882.1(COL13A1):c.803del (p.Pro268fs)
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001371928.1(AHDC1):c.997del (p.Ala333fs) rs1557667078
NM_001371986.1(UNC80):c.1063del (p.Tyr355fs) rs1553523425
NM_001371986.1(UNC80):c.1357del (p.Arg453fs) rs1574574226
NM_001371986.1(UNC80):c.2033del (p.Asn678fs) rs869025318
NM_001371986.1(UNC80):c.3977-1G>T
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) rs1289499829
NM_001371986.1(UNC80):c.4582-2A>G rs2124930786
NM_001371986.1(UNC80):c.7222del (p.Ser2408fs)
NM_001371986.1(UNC80):c.7435del (p.Tyr2479fs)
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.8218_8219insTGAA (p.Ser2740fs)
NM_001371986.1(UNC80):c.8256+2T>G rs1575179679
NM_001371986.1(UNC80):c.8772+1G>A rs2125016932
NM_001371986.1(UNC80):c.8772+2T>G rs1553621496
NM_001371986.1(UNC80):c.9708+1G>A
NM_001374353.1(GLI2):c.1108del (p.Ala370fs)
NM_001374353.1(GLI2):c.1183-45del
NM_001374353.1(GLI2):c.149-877_238del
NM_001374353.1(GLI2):c.162_163del (p.Leu55fs) rs778975466
NM_001374353.1(GLI2):c.1905+1G>A rs1558937172
NM_001374353.1(GLI2):c.2013del (p.Ser673fs) rs876661325
NM_001374353.1(GLI2):c.2186G>A (p.Trp729Ter) rs876661326
NM_001374353.1(GLI2):c.3125_3126insTA (p.Leu1043fs)
NM_001374353.1(GLI2):c.4603A>T (p.Thr1535Ser) rs1057518657
NM_001374353.1(GLI2):c.4710G>C (p.Ter1570Tyr) rs876661327
NM_001374353.1(GLI2):c.596dup (p.Ala200fs) rs876661323
NM_001374353.1(GLI2):c.790C>T (p.Arg264Ter) rs876661324
NM_001374828.1(ARID1B):c.1637_1638del (p.Ala546fs) rs2115002258
NM_001375380.1(EBF3):c.577A>G (p.Lys193Glu) rs886040976
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp) rs2048519381
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro) rs797045529
NM_001376.5(DYNC1H1):c.11311G>A (p.Glu3771Lys) rs2048611744
NM_001376.5(DYNC1H1):c.11941+2T>A rs1595630836
NM_001376.5(DYNC1H1):c.1706G>C (p.Arg569Pro) rs797045178
NM_001376.5(DYNC1H1):c.1802T>A (p.Ile601Asn) rs1057518776
NM_001376.5(DYNC1H1):c.2003T>A (p.Val668Asp) rs2047935205
NM_001376.5(DYNC1H1):c.2321T>C (p.Leu774Pro) rs2047938879
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln) rs1064796765
NM_001376.5(DYNC1H1):c.7813_7815del (p.Leu2605del) rs2048330550
NM_001376.5(DYNC1H1):c.915A>T (p.Lys305Asn) rs1566996726
NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His) rs797045177
NM_001377229.1(DISP1):c.2898G>A (p.Trp966Ter) rs749035153
NM_001378454.1(ALMS1):c.3345dup (p.Leu1116fs) rs2103778571
NM_001378454.1(ALMS1):c.4244del (p.Gly1415fs) rs2103781993
NM_001378454.1(ALMS1):c.7879_7880insACAG (p.Val2627fs) rs2103889898
NM_001378477.3(NYX):c.1293dup (p.Leu432fs) rs2147026677
NM_001378477.3(NYX):c.23-1_23delinsTT rs1555967031
NM_001378477.3(NYX):c.419_420delinsAA (p.Cys140Ter)
NM_001378477.3(NYX):c.604_612dup (p.Arg202_Arg204dup) rs2064376509
NM_001378477.3(NYX):c.944_971dup (p.Phe327fs)
NM_001378778.1(MPDZ):c.1338_1341dup (p.Leu448fs) rs2135678282
NM_001378778.1(MPDZ):c.1445T>A (p.Leu482Ter)
NM_001378778.1(MPDZ):c.1502dup (p.Leu501fs) rs1956840371
NM_001378778.1(MPDZ):c.1690G>T (p.Gly564Ter)
NM_001378778.1(MPDZ):c.2649+1G>A
NM_001378778.1(MPDZ):c.3253A>T (p.Lys1085Ter) rs1951349487
NM_001378778.1(MPDZ):c.3820_3821del (p.Leu1274fs) rs751161649
NM_001378778.1(MPDZ):c.4003A>T (p.Lys1335Ter) rs1587149916
NM_001378778.1(MPDZ):c.409_410delinsC (p.Val137fs)
NM_001378778.1(MPDZ):c.4702C>T (p.Gln1568Ter)
NM_001378778.1(MPDZ):c.6007_6013dup (p.Tyr2005fs) rs1586841546
NM_001379200.1(TBX1):c.437+1G>C
NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) rs1936727304
NM_001379200.1(TBX1):c.711+1G>A rs1731409120
NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter) rs1057518802
NM_001382.4(DPAGT1):c.1005+1G>A
NM_001382.4(DPAGT1):c.1097T>C (p.Leu366Ser) rs2134898234
NM_001382.4(DPAGT1):c.187G>A (p.Gly63Ser)
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile) rs387907243
NM_001382.4(DPAGT1):c.457A>T (p.Lys153Ter) rs1946485389
NM_001382.4(DPAGT1):c.644-1G>T rs2134903748
NM_001382.4(DPAGT1):c.742G>A (p.Val248Met)
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) rs397515328
NM_001393530.1(MATN4):c.515G>C (p.Gly172Ala) rs730882210
NM_001394062.1(MACF1):c.20293G>C (p.Gly6765Arg) rs1488808726
NM_001394062.1(MACF1):c.21679-2A>G
NM_001394062.1(MACF1):c.21717G>T (p.Arg7239Ser) rs1644602877
NM_001394062.1(MACF1):c.21752G>C (p.Arg7251Pro)
NM_001394062.1(MACF1):c.21803G>A (p.Arg7268His) rs2124125451
NM_001394062.1(MACF1):c.21820G>A (p.Val7274Met)
NM_001394062.1(MACF1):c.7129dup (p.Arg2377fs)
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.1282+1G>A
NM_001429.4(EP300):c.1709_1710del (p.Gln570fs)
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.1878+1G>A rs2058974109
NM_001429.4(EP300):c.2064dup (p.Pro689fs) rs1601617062
NM_001429.4(EP300):c.2132-1G>A rs2145734002
NM_001429.4(EP300):c.2461_2470del (p.Gln821fs)
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile) rs953108559
NM_001429.4(EP300):c.2998-3_2998-2del rs2145740556
NM_001429.4(EP300):c.3067del (p.Glu1022_Ile1023insTer) rs2059050708
NM_001429.4(EP300):c.3135_3138del (p.Lys1046fs) rs2059051273
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp) rs1340981566
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001429.4(EP300):c.3671+5G>C
NM_001429.4(EP300):c.3729-1G>T rs2145756375
NM_001429.4(EP300):c.3731TTG[1] (p.Val1245del) rs1555910602
NM_001429.4(EP300):c.3733del (p.Val1245fs)
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr) rs1601629319
NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser) rs1464734494
NM_001429.4(EP300):c.4232C>T (p.Thr1411Ile) rs1601633708
NM_001429.4(EP300):c.4287-1G>T
NM_001429.4(EP300):c.4318C>A (p.Pro1440Thr)
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet) rs1555911316
NM_001429.4(EP300):c.4452+5G>T rs1555911334
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter) rs1601636935
NM_001429.4(EP300):c.5245C>T (p.Arg1749Trp) rs2145515250
NM_001429.4(EP300):c.5486G>C (p.Arg1829Pro) rs2145516079
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr) rs1601639958
NM_001429.4(EP300):c.5493G>C (p.Arg1831Ser) rs1379274045
NM_001429.4(EP300):c.5894dup (p.Met1965fs)
NM_001429.4(EP300):c.5897del (p.Gly1966fs)
NM_001429.4(EP300):c.598C>T (p.Arg200Ter) rs769721953
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6015_6028del (p.Gln2005fs) rs2059210417
NM_001429.4(EP300):c.6121_6124del (p.Leu2041fs) rs2059211409
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238
NM_001429.4(EP300):c.6454C>T (p.Gln2152Ter)
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001429.4(EP300):c.6691del (p.Met2231fs) rs1601641819
NM_001458.5(FLNC):c.1047+1G>A rs762493013
NM_001458.5(FLNC):c.1047+1G>T rs762493013
NM_001458.5(FLNC):c.1411+1G>T rs2128934545
NM_001458.5(FLNC):c.1548_1549+2del rs763330423
NM_001458.5(FLNC):c.1549+1G>A
NM_001458.5(FLNC):c.1549+2T>G rs111806457
NM_001458.5(FLNC):c.1676+1G>A rs111452612
NM_001458.5(FLNC):c.1814-1G>A
NM_001458.5(FLNC):c.2007+1G>A
NM_001458.5(FLNC):c.2265+1G>A rs1585157354
NM_001458.5(FLNC):c.2550+1G>C
NM_001458.5(FLNC):c.2550+2T>C rs113972676
NM_001458.5(FLNC):c.2811+1G>T rs2128936028
NM_001458.5(FLNC):c.2929+2_2929+7del rs2128936119
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter) rs886037830
NM_001458.5(FLNC):c.3193-2A>G rs749889670
NM_001458.5(FLNC):c.352+1G>T
NM_001458.5(FLNC):c.3581C>T (p.Ser1194Leu) rs773481064
NM_001458.5(FLNC):c.3964+1G>A rs1808557594
NM_001458.5(FLNC):c.3964+1G>T rs1808557594
NM_001458.5(FLNC):c.4127+1G>A
NM_001458.5(FLNC):c.4128-1G>C
NM_001458.5(FLNC):c.4128-2_4128-1del rs1808585056
NM_001458.5(FLNC):c.4288+1G>A rs2128937065
NM_001458.5(FLNC):c.4288+2T>G
NM_001458.5(FLNC):c.4457-1G>A rs1404524040
NM_001458.5(FLNC):c.4580+1G>A
NM_001458.5(FLNC):c.4637G>A (p.Gly1546Asp) rs1427917546
NM_001458.5(FLNC):c.46dup (p.Asp16fs)
NM_001458.5(FLNC):c.4920_4927+6del
NM_001458.5(FLNC):c.4927+2T>C
NM_001458.5(FLNC):c.4927+2T>G rs2128937680
NM_001458.5(FLNC):c.4928-1G>C
NM_001458.5(FLNC):c.4951+2T>C rs1585164316
NM_001458.5(FLNC):c.4952-2A>T rs774945928
NM_001458.5(FLNC):c.5199+1G>C rs1465588989
NM_001458.5(FLNC):c.5398+1G>C rs1808761665
NM_001458.5(FLNC):c.5399-1G>A
NM_001458.5(FLNC):c.5399-2A>C rs2128938204
NM_001458.5(FLNC):c.5540-2A>G rs111477195
NM_001458.5(FLNC):c.5683G>C (p.Ala1895Pro) rs2128938435
NM_001458.5(FLNC):c.5842+1G>A rs2128938502
NM_001458.5(FLNC):c.5842+2T>G rs2128938503
NM_001458.5(FLNC):c.5843-2A>G rs1808866340
NM_001458.5(FLNC):c.602-2A>C
NM_001458.5(FLNC):c.6202_6208+11del
NM_001458.5(FLNC):c.6209-1G>C
NM_001458.5(FLNC):c.6362-1G>T rs1808924231
NM_001458.5(FLNC):c.6569G>C (p.Arg2190Pro) rs762680314
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg) rs867808948
NM_001458.5(FLNC):c.699+1G>A rs1562991776
NM_001458.5(FLNC):c.6997+1G>A
NM_001458.5(FLNC):c.6997+1G>T rs1585169973
NM_001458.5(FLNC):c.710C>T (p.Pro237Leu) rs1585152751
NM_001458.5(FLNC):c.7384+2T>C rs112941619
NM_001458.5(FLNC):c.7559C>A (p.Thr2520Asn) rs1809086992
NM_001458.5(FLNC):c.7562-1G>A rs2128940335
NM_001458.5(FLNC):c.7581del (p.Ile2527fs)
NM_001458.5(FLNC):c.7780+1G>A rs1563005607
NM_001458.5(FLNC):c.7780+1G>C rs1563005607
NM_001458.5(FLNC):c.7780+1G>T
NM_001458.5(FLNC):c.7780+2T>A
NM_001458.5(FLNC):c.7780+2T>C rs1809110247
NM_001458.5(FLNC):c.7925del (p.Gly2642fs)
NM_001458.5(FLNC):c.8112del (p.Asp2703_Tyr2704insTer)
NM_001458.5(FLNC):c.850+1G>A rs1808146842
NM_001458.5(FLNC):c.850+1G>T rs1808146842
NM_001519.4(BRF1):c.793_794delinsCATTTA (p.Thr265fs) rs2141566255
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His) rs1555666392
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp) rs1192977984
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.118C>T (p.His40Tyr) rs1057518673
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) rs11549196
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)
NM_001614.5(ACTG1):c.439C>T (p.Arg147Cys) rs2031775804
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.459G>A (p.Met153Ile) rs2143779081
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp) rs1362994447
NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile) rs587780275
NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly) rs11549225
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) rs1598548614
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) rs1555666715
NM_001614.5(ACTG1):c.629G>A (p.Arg210His) rs1555666709
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)
NM_001614.5(ACTG1):c.728C>T (p.Pro243Leu) rs1598548256
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.983A>G (p.Lys328Arg)
NM_001658.4(ARF1):c.143C>T (p.Thr48Ile) rs1571844539
NM_001658.4(ARF1):c.278A>G (p.Asp93Gly) rs2124857932
NM_001658.4(ARF1):c.295C>T (p.Arg99Cys) rs2124857939
NM_001658.4(ARF1):c.296G>A (p.Arg99His) rs1558087712
NM_001658.4(ARF1):c.55C>T (p.Arg19Cys) rs2124857065
NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn) rs1599017933
NM_001793.6(CDH3):c.2087del (p.Asp696fs) rs1961688932
NM_001822.7(CHN1):c.643G>A (p.Gly215Arg)
NM_001845.6(COL4A1):c.388-1G>C rs766209938
NM_001848.3(COL6A1):c.1027_1056+76del rs2123473096
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.1056+1del rs1556425853
NM_001848.3(COL6A1):c.1056+2T>A
NM_001848.3(COL6A1):c.1056+4A>G rs886043433
NM_001848.3(COL6A1):c.1056+5G>T rs886044511
NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)
NM_001848.3(COL6A1):c.1112G>A (p.Gly371Glu) rs2077774072
NM_001848.3(COL6A1):c.1138G>A (p.Gly380Arg)
NM_001848.3(COL6A1):c.1335+2_1335+3del
NM_001848.3(COL6A1):c.1398+2T>G rs1569518481
NM_001848.3(COL6A1):c.1483C>T (p.Pro495Ser) rs1569518677
NM_001848.3(COL6A1):c.1524+1G>A
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001848.3(COL6A1):c.1576-1G>A rs112814811
NM_001848.3(COL6A1):c.1576-2A>G
NM_001848.3(COL6A1):c.1576-2_1576-1del rs1569518725
NM_001848.3(COL6A1):c.1674+1G>A rs2123484131
NM_001848.3(COL6A1):c.1813+2_1813+3del rs2077836463
NM_001848.3(COL6A1):c.1823-1G>T rs1569519030
NM_001848.3(COL6A1):c.2066+2T>C rs2077849329
NM_001848.3(COL6A1):c.2330_2351dup (p.Leu786fs) rs2123490954
NM_001848.3(COL6A1):c.2435-2A>G rs940473416
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg) rs1471465037
NM_001848.3(COL6A1):c.738+1G>T rs2077744287
NM_001848.3(COL6A1):c.748_805-704del
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs) rs886043354
NM_001848.3(COL6A1):c.787G>T (p.Gly263Cys) rs1569517943
NM_001848.3(COL6A1):c.788G>T (p.Gly263Val) rs886043351
NM_001848.3(COL6A1):c.805-2A>T rs398123639
NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly) rs1569518070
NM_001848.3(COL6A1):c.842_858+7del rs2077759485
NM_001848.3(COL6A1):c.846_854del (p.Glu282_Gly284del) rs1556425474
NM_001848.3(COL6A1):c.859-1G>C rs1556425531
NM_001848.3(COL6A1):c.887G>A (p.Gly296Glu) rs1603590649
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val) rs1603590649
NM_001848.3(COL6A1):c.904-2A>G rs1057519174
NM_001848.3(COL6A1):c.904-39A>G rs1569518138
NM_001848.3(COL6A1):c.913G>C (p.Gly305Arg) rs1469287281
NM_001848.3(COL6A1):c.928_930+23del
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>T rs886042902
NM_001848.3(COL6A1):c.957+6C>G rs374926748
NM_001848.3(COL6A1):c.957_957+7del rs1556425687
NM_001848.3(COL6A1):c.971_979del (p.Lys324_Gly326del) rs2123472068
NM_001848.3(COL6A1):c.98-2_103del rs1556423703
NM_001848.3:c.19dup
NM_001849.4(COL6A2):c.-27-3C>G rs1288520983
NM_001849.4(COL6A2):c.1000-13_1030del rs1555873353
NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)
NM_001849.4(COL6A2):c.1054-2A>G rs886044023
NM_001849.4(COL6A2):c.1055delG rs1555873507
NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter) rs986393872
NM_001849.4(COL6A2):c.1179+1G>A rs2078514224
NM_001849.4(COL6A2):c.1179+1G>T
NM_001849.4(COL6A2):c.1180-1G>A
NM_001849.4(COL6A2):c.1180-2A>G rs1601232289
NM_001849.4(COL6A2):c.1269_1270insCATCATCCCTCTACATTTTTTAACCAAATCAACAACAACCTATTTAGCTGTTCCCCAACCTTTTCCTCCGACAGCCG (p.Gly424fs)
NM_001849.4(COL6A2):c.1275_1282del (p.Arg426fs)
NM_001849.4(COL6A2):c.1382dup (p.Asn461fs)
NM_001849.4(COL6A2):c.1459-2_1459-1del
NM_001849.4(COL6A2):c.1522-1G>C
NM_001849.4(COL6A2):c.1671+1G>T
NM_001849.4(COL6A2):c.1770+1G>A rs752803039
NM_001849.4(COL6A2):c.1770+2T>C
NM_001849.4(COL6A2):c.1806C>A (p.Cys602Ter) rs751987553
NM_001849.4(COL6A2):c.1817-2A>G rs111697581
NM_001849.4(COL6A2):c.1817-3_1817-2del rs1491048605
NM_001849.4(COL6A2):c.1861G>C (p.Asp621His) rs267606750
NM_001849.4(COL6A2):c.1868C>T (p.Ser623Phe) rs2123661865
NM_001849.4(COL6A2):c.1969+1G>T
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001849.4(COL6A2):c.2040dup (p.Ile681fs) rs886039905
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.2254_2255del (p.Val752fs)
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.4(COL6A2):c.2638_2656dup (p.Gly886fs)
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys) rs150168522
NM_001849.4(COL6A2):c.3006_3007insTC (p.Asp1003fs)
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn) rs983938730
NM_001849.4(COL6A2):c.543_735+396del rs2078415602
NM_001849.4(COL6A2):c.735+9_784del
NM_001849.4(COL6A2):c.784G>T (p.Gly262Cys) rs2123620765
NM_001849.4(COL6A2):c.785G>T (p.Gly262Val) rs886042943
NM_001849.4(COL6A2):c.801G>A (p.Lys267=) rs2078439012
NM_001849.4(COL6A2):c.802-2A>G rs886044399
NM_001849.4(COL6A2):c.802G>C (p.Gly268Arg) rs2123625485
NM_001849.4(COL6A2):c.803G>T (p.Gly268Val) rs397515333
NM_001849.4(COL6A2):c.848G>T (p.Gly283Val) rs886044088
NM_001849.4(COL6A2):c.855+1G>T rs1057517988
NM_001849.4(COL6A2):c.856G>A (p.Gly286Arg) rs2123626018
NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg) rs1555872873
NM_001849.4(COL6A2):c.901-3C>G rs112317259
NM_001849.4(COL6A2):c.911G>T (p.Gly304Val) rs727502832
NM_001849.4(COL6A2):c.927+5G>A
NM_001849.4(COL6A2):c.928-2A>G rs1440070681
NM_001849.4(COL6A2):c.954+1G>C rs2123628251
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn) rs878854362
NM_001849.4(COL6A2):c.955-3_955-1delinsAA rs1568929639
NM_001849.4(COL6A2):c.999+9_1053+32del rs2078478648
NM_001904.4(CTNNB1):c.1016_1025delinsT (p.Thr339_Arg342delinsIle) rs1559470315
NM_001904.4(CTNNB1):c.1043C>T (p.Ser348Phe)
NM_001904.4(CTNNB1):c.1178dup (p.Thr393_Lys394insTer) rs2125638080
NM_001904.4(CTNNB1):c.1186-3T>G rs1212452748
NM_001904.4(CTNNB1):c.1271T>G (p.Leu424Arg) rs863224864
NM_001904.4(CTNNB1):c.1287C>A (p.Cys429Ter) rs2078362215
NM_001904.4(CTNNB1):c.1309_1316del (p.Met437fs)
NM_001904.4(CTNNB1):c.1314dup (p.Cys439fs)
NM_001904.4(CTNNB1):c.1524+2T>A rs878960699
NM_001904.4(CTNNB1):c.1690dup (p.Val564fs)
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg) rs797044875
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001904.4(CTNNB1):c.2076G>C (p.Glu692Asp) rs1559477241
NM_001904.4(CTNNB1):c.2125dup (p.Tyr709fs)
NM_001904.4(CTNNB1):c.2273del (p.His758fs) rs1575339920
NM_001904.4(CTNNB1):c.242-5T>G rs2125619523
NM_001904.4(CTNNB1):c.496-2A>G
NM_001904.4(CTNNB1):c.923del (p.Asn308fs)
NM_001904.4:c.1_1081del
NM_001927.4(DES):c.1013T>C (p.Leu338Pro) rs57496341
NM_001927.4(DES):c.1027_1032dup (p.Asp343_Ser344dup) rs1954437523
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.1130T>C (p.Leu377Pro) rs1432061016
NM_001927.4(DES):c.1151A>G (p.His384Arg) rs1553603566
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) rs61130669
NM_001927.4(DES):c.1201G>A (p.Glu401Lys) rs57694264
NM_001927.4(DES):c.1202A>G (p.Glu401Gly) rs1954444202
NM_001927.4(DES):c.1204A>T (p.Ile402Phe)
NM_001927.4(DES):c.1214A>C (p.Tyr405Ser) rs2125168913
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1217G>C (p.Arg406Pro)
NM_001927.4(DES):c.1237G>A (p.Glu413Lys) rs61726467
NM_001927.4(DES):c.1244+1G>A
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1366G>A (p.Gly456Arg) rs397516690
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_001927.4(DES):c.2T>C (p.Met1Thr) rs2125165615
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.347A>T (p.Asn116Ile) rs267607499
NM_001927.4(DES):c.579-2A>C
NM_001927.4(DES):c.732_735+3del
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+1G>C rs397516698
NM_001927.4(DES):c.735+2T>G
NM_001927.4(DES):c.735G>C (p.Glu245Asp) rs267607486
NM_001927.4(DES):c.976C>T (p.His326Tyr) rs794728987
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
NM_001953.5(TYMP):c.1040dup (p.Ala348fs) rs1603441848
NM_001953.5(TYMP):c.1085C>A (p.Ser362Ter)
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.1301-1G>A rs773785934
NM_001953.5(TYMP):c.1308dup (p.Trp437fs) rs1471478620
NM_001953.5(TYMP):c.207_214+6del
NM_001953.5(TYMP):c.20del (p.Pro7fs) rs2148683541
NM_001953.5(TYMP):c.214+1G>C
NM_001953.5(TYMP):c.214+1G>T rs1200609783
NM_001953.5(TYMP):c.298C>T (p.Gln100Ter)
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
NM_001953.5(TYMP):c.391C>A (p.Pro131Thr) rs863224255
NM_001953.5(TYMP):c.417+2T>G
NM_001953.5(TYMP):c.418-1G>A
NM_001953.5(TYMP):c.520C>T (p.Gln174Ter) rs2069446068
NM_001953.5(TYMP):c.532_548dup (p.Cys183fs)
NM_001953.5(TYMP):c.535C>T (p.Gln179Ter)
NM_001953.5(TYMP):c.536_539dup (p.Cys182fs)
NM_001953.5(TYMP):c.729del (p.Asn244fs) rs755728248
NM_001953.5(TYMP):c.809T>C (p.Leu270Pro) rs1178421926
NM_001953.5(TYMP):c.829dup (p.Leu277fs)
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_001953.5(TYMP):c.928+1dup
NM_001953.5(TYMP):c.945G>A (p.Trp315Ter) rs1052593047
NM_001999.4(FBN2):c.1899del (p.Asn634fs) rs1581250307
NM_001999.4(FBN2):c.2384G>A (p.Cys795Tyr) rs1057524398
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe) rs1057519321
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu) rs1751115198
NM_001999.4(FBN2):c.3293G>A (p.Cys1098Tyr)
NM_001999.4(FBN2):c.3298T>A (p.Cys1100Ser) rs2126912100
NM_001999.4(FBN2):c.3344A>T (p.Asp1115Val) rs869025428
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly) rs1750918931
NM_001999.4(FBN2):c.3425G>A (p.Cys1142Tyr)
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys) rs1750918319
NM_001999.4(FBN2):c.3459GAA[1] (p.Lys1154del) rs1554123139
NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg) rs1750917259
NM_001999.4(FBN2):c.3472+1G>A rs1554123136
NM_001999.4(FBN2):c.3482A>G (p.Glu1161Gly)
NM_001999.4(FBN2):c.3505T>C (p.Cys1169Arg)
NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys) rs138303817
NM_001999.4(FBN2):c.3547T>C (p.Cys1183Arg)
NM_001999.4(FBN2):c.3594T>G (p.Cys1198Trp)
NM_001999.4(FBN2):c.3611G>T (p.Cys1204Phe) rs2126898748
NM_001999.4(FBN2):c.3632G>A (p.Cys1211Tyr) rs2126898679
NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr) rs1750830797
NM_001999.4(FBN2):c.3718T>G (p.Cys1240Gly) rs1554122897
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr) rs1554122896
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg) rs1554122857
NM_001999.4(FBN2):c.3737G>A (p.Cys1246Tyr)
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr) rs137852825
NM_001999.4(FBN2):c.3778T>C (p.Ser1260Pro)
NM_001999.4(FBN2):c.3803G>T (p.Cys1268Phe) rs1750811749
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)
NM_001999.4(FBN2):c.3968G>C (p.Cys1323Ser)
NM_001999.4(FBN2):c.3973G>A (p.Asp1325Asn) rs1554122802
NM_001999.4(FBN2):c.3974-9A>G
NM_001999.4(FBN2):c.4056T>G (p.Cys1352Trp) rs1479056828
NM_001999.4(FBN2):c.4112G>T (p.Cys1371Phe)
NM_001999.4(FBN2):c.4177T>C (p.Cys1393Arg)
NM_001999.4(FBN2):c.4184G>A (p.Cys1395Tyr) rs886038935
NM_001999.4(FBN2):c.4222+1G>A rs1060503498
NM_001999.4(FBN2):c.4222G>A (p.Asp1408Asn)
NM_001999.4(FBN2):c.4285C>A (p.Pro1429Thr) rs1060503511
NM_001999.4(FBN2):c.4300T>G (p.Cys1434Gly)
NM_001999.4(FBN2):c.4301G>A (p.Cys1434Tyr)
NM_001999.4(FBN2):c.4301G>C (p.Cys1434Ser) rs1750667332
NM_001999.4(FBN2):c.4340G>A (p.Cys1447Tyr) rs2126888942
NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg) rs1750289332
NM_001999.4(FBN2):c.5917+1del
NM_001999.4(FBN2):c.6122G>A (p.Cys2041Tyr) rs2126833724
NM_001999.4(FBN2):c.7630C>T (p.Gln2544Ter) rs1085307066
NM_001999.4(FBN2):c.91C>T (p.Gln31Ter)
NM_002206.3(ITGA7):c.1071delinsAT (p.Tyr358fs) rs2136033955
NM_002206.3(ITGA7):c.1088dup (p.His364fs) rs587780362
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs) rs1474512248
NM_002206.3(ITGA7):c.1474C>T (p.Gln492Ter) rs2136025217
NM_002206.3(ITGA7):c.1567+1G>A rs1217190017
NM_002206.3(ITGA7):c.171_181del (p.Leu58fs) rs2136102011
NM_002206.3(ITGA7):c.1825C>T (p.Gln609Ter) rs148136365
NM_002206.3(ITGA7):c.1887+2T>C
NM_002206.3(ITGA7):c.2004-1G>A
NM_002206.3(ITGA7):c.206+2T>A
NM_002206.3(ITGA7):c.2182del (p.Ala728fs) rs1565622052
NM_002206.3(ITGA7):c.2197-2A>G
NM_002206.3(ITGA7):c.226C>T (p.Gln76Ter) rs2136073462
NM_002206.3(ITGA7):c.2959-2A>G
NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter) rs754699820
NM_002206.3(ITGA7):c.334+1G>T rs2136072590
NM_002206.3(ITGA7):c.670+1G>A rs1873861004
NM_002206.3(ITGA7):c.671-1G>A rs777049999
NM_002206.3(ITGA7):c.790+1G>A rs2136045991
NM_002242.4(KCNJ13):c.314G>T (p.Ser105Ile) rs1699223440
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) rs863224884
NM_002291.3(LAMB1):c.1974_1975dup (p.Pro659fs) rs2150428777
NM_002291.3(LAMB1):c.4363_4376del (p.Leu1455fs) rs2116327253
NM_002334.4(LRP4):c.1184-2A>G
NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter) rs1479002757
NM_002334.4(LRP4):c.2507-1G>A
NM_002334.4(LRP4):c.3699+1G>A
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn) rs267607222
NM_002334.4(LRP4):c.547+1G>A rs762425885
NM_002334.4(LRP4):c.898G>A (p.Asp300Asn)
NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln) rs2153153067
NM_002335.4(LRP5):c.1067C>T (p.Ser356Leu) rs1158745675
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) rs886040977
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr) rs1057519574
NM_002335.4(LRP5):c.2371A>G (p.Met791Val)
NM_002335.4(LRP5):c.3028-1G>A
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp) rs141178995
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr) rs1326459816
NM_002335.4(LRP5):c.4489-2A>G rs1057519575
NM_002454.3(MTRR):c.-25-1G>A
NM_002454.3(MTRR):c.1057+1G>A
NM_002454.3(MTRR):c.1072del (p.Gln358fs)
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)
NM_002454.3(MTRR):c.1146+1G>A
NM_002454.3(MTRR):c.118G>T (p.Glu40Ter)
NM_002454.3(MTRR):c.1241del (p.Ser414fs)
NM_002454.3(MTRR):c.129+2T>G
NM_002454.3(MTRR):c.130-2A>G
NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter)
NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)
NM_002454.3(MTRR):c.1496C>G (p.Ser499Ter)
NM_002454.3(MTRR):c.1508dup (p.Asn504fs)
NM_002454.3(MTRR):c.1599_1606del (p.Asp534fs)
NM_002454.3(MTRR):c.1669C>T (p.Gln557Ter)
NM_002454.3(MTRR):c.1672dup (p.His558fs)
NM_002454.3(MTRR):c.1677-2A>G
NM_002454.3(MTRR):c.1805_1806delinsAAGATC (p.Leu602Ter)
NM_002454.3(MTRR):c.1952+1G>A
NM_002454.3(MTRR):c.245C>T (p.Pro82Leu)
NM_002454.3(MTRR):c.270del (p.Tyr91fs) rs1579619636
NM_002454.3(MTRR):c.276del (p.Leu93fs)
NM_002454.3(MTRR):c.324del (p.Lys109fs) rs1189298981
NM_002454.3(MTRR):c.324dup (p.Lys109fs)
NM_002454.3(MTRR):c.358del (p.Ala120fs)
NM_002454.3(MTRR):c.372T>G (p.Tyr124Ter)
NM_002454.3(MTRR):c.402-1G>T rs1734858651
NM_002454.3(MTRR):c.440G>A (p.Trp147Ter)
NM_002454.3(MTRR):c.524C>A (p.Ser175Ter)
NM_002454.3(MTRR):c.568C>T (p.Gln190Ter)
NM_002454.3(MTRR):c.596C>G (p.Ser199Ter)
NM_002454.3(MTRR):c.701dup (p.Leu235fs)
NM_002454.3(MTRR):c.740del (p.Pro247fs) rs752858024
NM_002454.3(MTRR):c.741del (p.Glu248fs) rs1734931275
NM_002454.3(MTRR):c.835del (p.Ser279fs)
NM_002454.3(MTRR):c.916dup (p.Ser306fs)
NM_002470.4(MYH3):c.1504T>G (p.Tyr502Asp) rs797045727
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002470.4(MYH3):c.2096T>A (p.Val699Asp)
NM_002470.4(MYH3):c.3247_3248+1del
NM_002470.4(MYH3):c.703A>G (p.Lys235Glu)
NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro) rs1057518963
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys) rs1060499666
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr) rs2147714706
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val) rs1921817445
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs) rs1602206514
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.188G>C (p.Arg63Thr)
NM_002641.4(PIGA):c.193C>T (p.His65Tyr) rs1602212285
NM_002641.4(PIGA):c.1A>G (p.Met1Val) rs1922179572
NM_002641.4(PIGA):c.242G>A (p.Arg81His) rs1922162801
NM_002641.4(PIGA):c.268T>C (p.Tyr90His)
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_002641.4(PIGA):c.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.395C>G (p.Ser132Cys) rs1060499625
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_002693.2(POLG):c.[2554C>T];[32G>A]
NM_002693.2(POLG):c.[2693T>C];[924G>T]
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp) rs1596358408
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg) rs1484810169
NM_002693.3(POLG):c.3282del (p.Ser1095fs) rs1596350117
NM_002693.3(POLG):c.502G>C (p.Ala168Pro) rs2055619068
NM_002693.3(POLG):c.624C>A (p.Cys208Ter) rs1159974816
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) rs1290567099
NM_002941.4(ROBO1):c.2440_2442+4del
NM_003070.5(SMARCA2):c.1258C>T (p.Arg420Cys)
NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr) rs1820558146
NM_003070.5(SMARCA2):c.1600G>T (p.Asp534Tyr) rs863224922
NM_003070.5(SMARCA2):c.2254G>A (p.Gly752Arg) rs1821581008
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp) rs1554623112
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu) rs1554623112
NM_003070.5(SMARCA2):c.2552A>G (p.Asp851Gly) rs886041045
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln) rs281875188
NM_003070.5(SMARCA2):c.2736G>T (p.Trp912Cys)
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His) rs1586692551
NM_003070.5(SMARCA2):c.2831C>A (p.Pro944Gln)
NM_003070.5(SMARCA2):c.2966C>G (p.Thr989Arg)
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003070.5(SMARCA2):c.3441C>A (p.Asp1147Glu)
NM_003070.5(SMARCA2):c.3457-2A>T rs1823192606
NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg) rs863224921
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.3493C>A (p.Gln1165Lys) rs797045976
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr) rs281875196
NM_003070.5(SMARCA2):c.3587A>C (p.Gln1196Pro) rs1586721515
NM_003070.5(SMARCA2):c.3599A>C (p.Gln1200Pro) rs1823198138
NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met) rs2130626814
NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs) rs1576412227
NM_003074.4(SMARCC1):c.1577A>C (p.His526Pro) rs1576408057
NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs) rs1576408050
NM_003074.4(SMARCC1):c.2672del (p.Lys891fs) rs1576390243
NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter) rs1576426439
NM_003244.4(TGIF1):c.16+1805del
NM_003244.4(TGIF1):c.214del (p.Ser72fs)
NM_003244.4(TGIF1):c.268C>T (p.Arg90Cys) rs1555650923
NM_003289.4(TPM2):c.181T>C (p.Ser61Pro) rs878854363
NM_003289.4(TPM2):c.269G>A (p.Arg90His) rs1563929454
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) rs1824676022
NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer) rs727503559
NM_003322.6(TULP1):c.1113-1G>T
NM_003322.6(TULP1):c.1204G>A (p.Glu402Lys) rs387906835
NM_003322.6(TULP1):c.1258C>T (p.Arg420Cys) rs551519696
NM_003322.6(TULP1):c.139G>T (p.Glu47Ter) rs1761224205
NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln) rs146311742
NM_003322.6(TULP1):c.1553_1556dup (p.Tyr520fs) rs2150921584
NM_003322.6(TULP1):c.1612A>G (p.Lys538Glu) rs1768748235
NM_003322.6(TULP1):c.162dup (p.Thr55fs)
NM_003322.6(TULP1):c.241_249delinsC (p.Ala81fs)
NM_003322.6(TULP1):c.821del (p.Lys274fs) rs774204108
NM_003322.6(TULP1):c.855dup (p.Val286fs) rs1554125752
NM_003322.6(TULP1):c.99+1G>A rs281865166
NM_003482.4(KMT2D):c.1769dup (p.Met590fs) rs1565819425
NM_003588.4(CUL4B):c.2493G>A (p.Thr831=) rs2147321510
NM_003611.3(OFD1):c.2387+1G>C rs2047914412
NM_003620.4(PPM1D):c.1221_1222insTC (p.Val408fs) rs2143719799
NM_003620.4(PPM1D):c.1224dup (p.Met409fs)
NM_003620.4(PPM1D):c.1237_1238del (p.Pro413fs) rs1555648565
NM_003620.4(PPM1D):c.1244dup (p.Thr416fs) rs2143719857
NM_003620.4(PPM1D):c.1249_1250insA (p.Pro417fs)
NM_003620.4(PPM1D):c.1277del (p.Pro426fs) rs1555649009
NM_003620.4(PPM1D):c.1349T>G (p.Leu450Ter)
NM_003620.4(PPM1D):c.1372C>T (p.Arg458Ter)
NM_003620.4(PPM1D):c.1384C>T (p.Gln462Ter)
NM_003620.4(PPM1D):c.1412del (p.Pro471fs) rs780195897
NM_003620.4(PPM1D):c.1434C>A (p.Cys478Ter)
NM_003620.4(PPM1D):c.1606del (p.Arg536fs) rs2031564242
NM_003632.3(CNTNAP1):c.1446T>G (p.Tyr482Ter)
NM_003632.3(CNTNAP1):c.2198A>G (p.Asp733Gly) rs2143663891
NM_003680.4(YARS1):c.806T>C (p.Phe269Ser) rs1653248260
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter) rs549450795
NM_003863.4(DPM2):c.197G>A (p.Gly66Glu)
NM_003865.3(HESX1):c.158-1G>C rs1238248024
NM_003865.3(HESX1):c.349C>T (p.Gln117Ter)
NM_003865.3(HESX1):c.3G>A (p.Met1Ile) rs2107566038
NM_003924.4(PHOX2B):c.241+1G>A rs2153113036
NM_003924.4(PHOX2B):c.242-1G>A
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys) rs1560466246
NM_003924.4(PHOX2B):c.440A>G (p.Gln147Arg) rs2153112821
NM_003924.4(PHOX2B):c.609_610delinsA (p.Asn203fs)
NM_003924.4(PHOX2B):c.691_698del (p.Gly231fs) rs2153112779
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup) rs771383153
NM_003924.4(PHOX2B):c.745_746insGGCGGCCGCGGC (p.Ala249delinsGlyArgProArgPro)
NM_004115.4(FGF14):c.194-1G>C
NM_004187.5(KDM5C):c.100del (p.Ile34fs)
NM_004187.5(KDM5C):c.1204G>A (p.Asp402Asn)
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.1447del (p.Glu483fs)
NM_004187.5(KDM5C):c.1549dup (p.Asp517fs) rs2146915836
NM_004187.5(KDM5C):c.1602G>C (p.Trp534Cys) rs2146914735
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu) rs587780372
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe) rs1602183890
NM_004187.5(KDM5C):c.1793C>G (p.Pro598Arg)
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
NM_004187.5(KDM5C):c.1823G>T (p.Gly608Val) rs2073151214
NM_004187.5(KDM5C):c.1843G>T (p.Val615Phe) rs2146868023
NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly) rs2146867887
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys) rs1602183619
NM_004187.5(KDM5C):c.208C>T (p.Gln70Ter) rs2146961698
NM_004187.5(KDM5C):c.2243+1G>T rs2073058023
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp) rs2146851322
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter) rs1602231587
NM_004187.5(KDM5C):c.3208C>T (p.Gln1070Ter)
NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs) rs1934728804
NM_004187.5(KDM5C):c.3412C>T (p.Gln1138Ter) rs1934722562
NM_004187.5(KDM5C):c.3656T>G (p.Leu1219Arg)
NM_004187.5(KDM5C):c.3845_3846del (p.Thr1282fs)
NM_004187.5(KDM5C):c.4118-2A>G rs2146815883
NM_004187.5(KDM5C):c.589dup (p.Leu197fs) rs1602228596
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004204.5(PIGQ):c.1345G>C (p.Gly449Arg) rs1361495767
NM_004204.5(PIGQ):c.241del (p.Leu81fs) rs2151044300
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004341.5(CAD):c.3721del (p.Val1241fs) rs2148080342
NM_004369.4(COL6A3):c.1313-442_1595delinsGCAAC
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter) rs761796175
NM_004369.4(COL6A3):c.3071-1G>A
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.4(COL6A3):c.4286-2A>C
NM_004369.4(COL6A3):c.4286-2A>G rs761453030
NM_004369.4(COL6A3):c.4950_4963del (p.Arg1651fs)
NM_004369.4(COL6A3):c.5035G>A (p.Gly1679Arg) rs2106350905
NM_004369.4(COL6A3):c.5524G>A (p.Gly1842Arg)
NM_004369.4(COL6A3):c.5838+1G>T rs1559234260
NM_004369.4(COL6A3):c.6130G>A (p.Gly2044Arg) rs1559229322
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn) rs398124125
NM_004369.4(COL6A3):c.6157-1G>A
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val) rs886041329
NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser) rs397515332
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs) rs1574976615
NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp)
NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg) rs1553553625
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
NM_004369.4(COL6A3):c.6283-2A>C rs797044988
NM_004369.4(COL6A3):c.6283-326_6296del rs2106341434
NM_004369.4(COL6A3):c.6309+1G>C rs886043919
NM_004369.4(COL6A3):c.6309+3A>G rs1553553327
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn) rs1574975196
NM_004369.4(COL6A3):c.6310-28_6325del rs1553553267
NM_004369.4(COL6A3):c.6320_6322del (p.Gly2107del) rs1559225974
NM_004369.4(COL6A3):c.6409-1G>C
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
NM_004369.4(COL6A3):c.6787C>T (p.Arg2263Ter) rs748966916
NM_004369.4(COL6A3):c.6967-2A>G
NM_004369.4(COL6A3):c.6967G>A (p.Gly2323Ser)
NM_004369.4(COL6A3):c.7162+1G>A
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter) rs878854379
NM_004369.4(COL6A3):c.7331G>C (p.Arg2444Pro) rs895701604
NM_004369.4(COL6A3):c.7669-2del rs764193290
NM_004369.4(COL6A3):c.7975C>T (p.Gln2659Ter) rs2076974450
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs) rs2106319784
NM_004369.4(COL6A3):c.9047dup (p.Pro3017fs)
NM_004369.4(COL6A3):c.9175del (p.Val3059fs)
NM_004369.4(COL6A3):c.9230-1G>A
NM_004370.6(COL12A1):c.3715+1G>T
NM_004370.6(COL12A1):c.395-2A>C rs1562310723
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter) rs1767310072
NM_004370.6(COL12A1):c.4417+2_4417+3del
NM_004370.6(COL12A1):c.5097+1G>A
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.5664+1G>A rs1766437216
NM_004370.6(COL12A1):c.5765G>A (p.Gly1922Glu) rs1766404539
NM_004370.6(COL12A1):c.5795-2A>C
NM_004370.6(COL12A1):c.6067+1G>A rs1766265062
NM_004370.6(COL12A1):c.6724+1G>C
NM_004370.6(COL12A1):c.6872-2A>G rs2149372690
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.6(COL12A1):c.73+1G>A
NM_004370.6(COL12A1):c.756dup (p.Ser253fs) rs1582208315
NM_004370.6(COL12A1):c.7697+1G>C
NM_004370.6(COL12A1):c.8101-1G>T rs2149349312
NM_004370.6(COL12A1):c.8179-2A>G rs1768495540
NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp) rs1768488927
NM_004370.6(COL12A1):c.8265+1G>A rs2149347624
NM_004370.6(COL12A1):c.8319+1G>C rs1768416586
NM_004370.6(COL12A1):c.8320-15_8379delinsCA
NM_004370.6(COL12A1):c.8360_8365delinsTCCAGGCCTCCA (p.Pro2787_Gly2789delinsLeuGlnAlaSerSer)
NM_004370.6(COL12A1):c.8393_8415+5del rs2149344192
NM_004370.6(COL12A1):c.8415+1G>C rs1768356177
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)
NM_004380.3(CREBBP):c.1574-2A>G rs2141248421
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp) rs1354934373
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro) rs2053254528
NM_004380.3(CREBBP):c.1824-1G>C
NM_004380.3(CREBBP):c.189del (p.Ala64fs)
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro) rs2141237064
NM_004380.3(CREBBP):c.2031del (p.Ile678fs) rs1555483716
NM_004380.3(CREBBP):c.2113+1G>C
NM_004380.3(CREBBP):c.2283+1G>T
NM_004380.3(CREBBP):c.2464-1G>A rs2052993075
NM_004380.3(CREBBP):c.3248_3250+4del
NM_004380.3(CREBBP):c.3270dup (p.Arg1091fs)
NM_004380.3(CREBBP):c.3370-2A>G rs866703165
NM_004380.3(CREBBP):c.3418del (p.Arg1140fs) rs2151383848
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro) rs797045492
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys) rs1596853925
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3504_3527del (p.Asn1168_Tyr1175del)
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly) rs1596854023
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs) rs2052611239
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys) rs1057518844
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.3779+1G>C rs587783483
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu) rs587783484
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln) rs267606752
NM_004380.3(CREBBP):c.3914+3G>T rs587783485
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter) rs2151354104
NM_004380.3(CREBBP):c.3982+3A>T rs1596823180
NM_004380.3(CREBBP):c.3983-1G>C rs2151341377
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro) rs587783488
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro) rs1596813665
NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro) rs121434626
NM_004380.3(CREBBP):c.4134-1G>T rs886041048
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe) rs149877180
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu) rs1596812290
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr) rs2052153254
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser) rs587783492
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe) rs200616542
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg) rs145988918
NM_004380.3(CREBBP):c.4281-11C>G rs587783493
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser) rs797045494
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro) rs778448390
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His) rs1596810435
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr) rs1596810419
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu) rs928061320
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly) rs587783494
NM_004380.3(CREBBP):c.4395-2A>C rs2151330226
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr) rs1596805927
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del) rs1555473122
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly) rs886041286
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys) rs587783496
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr) rs1057519207
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg) rs1596805792
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu) rs1596804126
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del) rs1555471931
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His) rs1596791996
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu) rs1596791996
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro) rs587783503
NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro) rs61731407
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe) rs2151316542
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg) rs2051906390
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser) rs2051863859
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val) rs869312714
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His) rs988251457
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln) rs797045496
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del) rs1596787459
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln) rs1131691326
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr) rs879255381
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs) rs2151306905
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del) rs587783511
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter) rs2051825168
NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter) rs1555471077
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter) rs199821421
NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter) rs2151304304
NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa) rs1555470631
NM_004380.3(CREBBP):c.85+1G>A rs1597099388
NM_004380.3(CREBBP):c.859_860inv (p.Pro287Gly)
NM_004393.6(DAG1):c.454_467del (p.Phe152fs) rs1553652513
NM_004393.6(DAG1):c.721_722del (p.Phe241fs)
NM_004393.6(DAG1):c.751del (p.Val251fs) rs1575410881
NM_004434.3(EML1):c.136C>T (p.Gln46Ter)
NM_004434.3(EML1):c.1897C>T (p.Arg633Ter) rs2060118585
NM_004595.5(SMS):c.581T>G (p.Val194Gly)
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu) rs1578860322
NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu)
NM_004744.5(LRAT):c.481T>C (p.Cys161Arg) rs1732848653
NM_004744.5(LRAT):c.487C>G (p.His163Asp) rs1010347467
NM_004744.5(LRAT):c.487C>T (p.His163Tyr) rs1010347467
NM_004818.3(DDX23):c.2437C>T (p.Arg813Cys)
NM_004855.5(PIGB):c.795-1G>C rs1163732372
NM_004958.4(MTOR):c.1078C>T (p.Arg360Trp)
NM_004958.4(MTOR):c.1816T>C (p.Cys606Arg) rs2100901805
NM_004958.4(MTOR):c.3945-26_4016dup
NM_004958.4(MTOR):c.4883G>A (p.Arg1628His) rs777925640
NM_004958.4(MTOR):c.5911G>A (p.Ala1971Thr) rs1057524049
NM_004958.4(MTOR):c.5912C>T (p.Ala1971Val) rs2100414567
NM_004958.4(MTOR):c.6227G>A (p.Arg2076Gln) rs2100402606
NM_004958.4(MTOR):c.6457A>G (p.Ile2153Val) rs2100396600
NM_004958.4(MTOR):c.7292T>C (p.Leu2431Pro) rs1057524044
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met) rs1057519915
NM_004958.4(MTOR):c.7529G>T (p.Gly2510Val) rs2100280361
NM_005045.4(RELN):c.1249C>T (p.Gln417Ter) rs1487246488
NM_005045.4(RELN):c.2002+1G>A
NM_005045.4(RELN):c.2303+1G>A rs2117350995
NM_005045.4(RELN):c.2303+2T>G
NM_005045.4(RELN):c.2465+2T>G
NM_005045.4(RELN):c.3205del (p.Ile1069fs) rs1831726447
NM_005045.4(RELN):c.473+1G>A
NM_005045.4(RELN):c.4864C>T (p.Arg1622Ter) rs1451240853
NM_005045.4(RELN):c.4936+1G>T
NM_005045.4(RELN):c.5615-2A>G rs2117168257
NM_005045.4(RELN):c.6068_6072+20del
NM_005045.4(RELN):c.6325C>T (p.Gln2109Ter) rs1830268919
NM_005045.4(RELN):c.6613_6614del (p.Phe2205fs) rs1830201852
NM_005045.4(RELN):c.7120G>T (p.Glu2374Ter)
NM_005045.4(RELN):c.7180+1G>T rs2117126444
NM_005045.4(RELN):c.805+1G>T
NM_005045.4(RELN):c.8489+4_8489+7del rs794727753
NM_005045.4(RELN):c.8843+2T>C
NM_005045.4(RELN):c.9841del (p.Ala3281fs) rs1586472959
NM_005055.4(RAPSN):c.[524A>G];[829A>G]
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)
NM_005055.5(RAPSN):c.193-2A>C rs1595902947
NM_005055.5(RAPSN):c.193-5_201del
NM_005055.5(RAPSN):c.272G>A (p.Arg91His) rs375218091
NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro) rs375218091
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
NM_005055.5(RAPSN):c.691-1G>A
NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala) rs374604570
NM_005055.5(RAPSN):c.911_912+1dup rs2153308410
NM_005055.5(RAPSN):c.913-1G>C
NM_005055.5(RAPSN):c.966+1_966+2delinsAG rs2153308170
NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs) rs1933151965
NM_005120.3(MED12):c.1248+3A>G rs2147782173
NM_005120.3(MED12):c.2546C>T (p.Ser849Phe)
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_005120.3(MED12):c.3646G>A (p.Val1216Met) rs2147805923
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys) rs727503868
NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser) rs2092334822
NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg) rs2092347481
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005198.5(CHKB):c.1032-2A>G rs1555894289
NM_005198.5(CHKB):c.150C>A (p.Tyr50Ter)
NM_005198.5(CHKB):c.225-1_225delinsTT
NM_005198.5(CHKB):c.678-1G>C
NM_005198.5(CHKB):c.844dup (p.Cys282fs)
NM_005215.4(DCC):c.1256del (p.Lys419fs)
NM_005215.4(DCC):c.2034_2038del (p.Asn678fs)
NM_005215.4(DCC):c.2304C>G (p.Tyr768Ter)
NM_005215.4(DCC):c.2551C>T (p.Gln851Ter)
NM_005215.4(DCC):c.3778C>T (p.Gln1260Ter)
NM_005245.4(FAT1):c.2600_2601del (p.Thr867fs) rs1579484850
NM_005249.5(FOXG1):c.1011_1015dup (p.Met339fs) rs1881815891
NM_005249.5(FOXG1):c.1020del (p.Tyr341fs) rs2138661880
NM_005249.5(FOXG1):c.1222A>T (p.Asn408Tyr) rs1594384249
NM_005249.5(FOXG1):c.156_160del (p.His52fs) rs1881779084
NM_005249.5(FOXG1):c.233_234insA (p.Pro79fs)
NM_005249.5(FOXG1):c.233_234insAA (p.Pro79fs) rs2138660420
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.298C>T (p.Gln100Ter)
NM_005249.5(FOXG1):c.324_339dup (p.Ala114fs) rs2138660628
NM_005249.5(FOXG1):c.336_345del (p.Ala113fs)
NM_005249.5(FOXG1):c.339del (p.Ala114fs)
NM_005249.5(FOXG1):c.515_577del (p.Gly172_Met192del) rs2138661060
NM_005249.5(FOXG1):c.515dup (p.Glu173fs) rs2138661058
NM_005249.5(FOXG1):c.543G>T (p.Lys181Asn) rs767961672
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys) rs879255530
NM_005249.5(FOXG1):c.554G>T (p.Ser185Ile) rs1057516138
NM_005249.5(FOXG1):c.563C>A (p.Ala188Glu) rs587783638
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly) rs587783638
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005249.5(FOXG1):c.568A>T (p.Ile190Phe)
NM_005249.5(FOXG1):c.572T>G (p.Met191Arg) rs2138661161
NM_005249.5(FOXG1):c.573G>A (p.Met191Ile) rs1555321311
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.578C>A (p.Ala193Asp) rs2138661170
NM_005249.5(FOXG1):c.578C>T (p.Ala193Val)
NM_005249.5(FOXG1):c.581T>C (p.Ile194Thr)
NM_005249.5(FOXG1):c.581T>G (p.Ile194Ser) rs2138661171
NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro) rs2138661213
NM_005249.5(FOXG1):c.609_613dup (p.Asn205fs)
NM_005249.5(FOXG1):c.619A>T (p.Ile207Phe) rs2138661244
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr) rs1881803464
NM_005249.5(FOXG1):c.635T>C (p.Met212Thr) rs2138661267
NM_005249.5(FOXG1):c.643T>A (p.Phe215Ile)
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser) rs786204998
NM_005249.5(FOXG1):c.653A>G (p.Tyr218Cys) rs1881804364
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.673T>G (p.Trp225Gly)
NM_005249.5(FOXG1):c.680A>G (p.Asn227Ser)
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys) rs786205012
NM_005249.5(FOXG1):c.683C>G (p.Ser228Cys)
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu) rs1064797186
NM_005249.5(FOXG1):c.686_687delinsAA (p.Ile229Lys) rs2138661361
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys) rs1594383704
NM_005249.5(FOXG1):c.689G>T (p.Arg230Leu) rs786205007
NM_005249.5(FOXG1):c.694A>G (p.Asn232Asp) rs786205486
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) rs1566445489
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr) rs1555321337
NM_005249.5(FOXG1):c.755G>A (p.Gly252Asp) rs587783640
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) rs587783640
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) rs587783641
NM_005249.5(FOXG1):c.759C>A (p.Asn253Lys) rs767873754
NM_005249.5(FOXG1):c.763T>A (p.Trp255Arg)
NM_005249.5(FOXG1):c.764G>A (p.Trp255Ter) rs1555321351
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro) rs1555321353
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) rs587783643
NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp)
NM_005249.5(FOXG1):c.803del (p.Gly268fs)
NM_005249.5(FOXG1):c.811G>A (p.Gly271Ser) rs1881809272
NM_005249.5(FOXG1):c.812G>A (p.Gly271Asp) rs796052469
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro) rs1555321361
NM_005249.5(FOXG1):c.844dup (p.Ala282fs) rs2138661638
NM_005249.5(FOXG1):c.847A>T (p.Lys283Ter)
NM_005249.5(FOXG1):c.974_975del (p.Thr324_Leu325insTer)
NM_005359.6(SMAD4):c.50_51del (p.Leu17fs)
NM_005359.6(SMAD4):c.875del (p.Pro292fs)
NM_005413.4(SIX3):c.581G>C (p.Arg194Pro) rs1666605262
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro) rs121917879
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005548.3(KARS1):c.256C>T (p.Gln86Ter) rs2151809445
NM_005573.4(LMNB1):c.814-1G>T
NM_005592.4(MUSK):c.1043A>C (p.Gln348Pro)
NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)
NM_005592.4(MUSK):c.1184+2T>C
NM_005592.4(MUSK):c.1185-2A>G
NM_005592.4(MUSK):c.1360+1G>A
NM_005592.4(MUSK):c.1586+1G>A
NM_005592.4(MUSK):c.1778+1G>T rs2132026515
NM_005592.4(MUSK):c.206+2T>C
NM_005592.4(MUSK):c.207-1G>A
NM_005592.4(MUSK):c.2360C>T (p.Ala787Val)
NM_005592.4(MUSK):c.2382G>C (p.Glu794Asp) rs756877019
NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe) rs2078085499
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu) rs375737188
NM_005592.4(MUSK):c.486+1G>C rs1204788520
NM_005592.4(MUSK):c.754-1G>T
NM_005592.4(MUSK):c.754-2A>G rs1587986079
NM_005592.4(MUSK):c.790_791delinsTGC (p.Arg264fs)
NM_005592.4(MUSK):c.913+2T>C
NM_005592.4(MUSK):c.920+1G>A
NM_005629.3:c.1488_1899del
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005629.4(SLC6A8):c.1016+2_1016+5del rs2148363006
NM_005629.4(SLC6A8):c.101_102insGC (p.Asp35fs) rs2148358474
NM_005629.4(SLC6A8):c.1056CTT[1] (p.Phe354del)
NM_005629.4(SLC6A8):c.1076TCT[1] (p.Phe360del)
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.1152_1156dup (p.Phe386fs)
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005629.4(SLC6A8):c.1210G>C (p.Ala404Pro)
NM_005629.4(SLC6A8):c.1254+1G>A rs1557045333
NM_005629.4(SLC6A8):c.1255-35_1272del rs2091473708
NM_005629.4(SLC6A8):c.1317_1321del (p.Arg440fs)
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg) rs1603217473
NM_005629.4(SLC6A8):c.1421A>G (p.Asp474Gly)
NM_005629.4(SLC6A8):c.1428C>G (p.Tyr476Ter)
NM_005629.4(SLC6A8):c.1513GAC[1] (p.Asp506del) rs2091477188
NM_005629.4(SLC6A8):c.1548C>A (p.Cys516Ter)
NM_005629.4(SLC6A8):c.1592_1639dup (p.Gly533fs)
NM_005629.4(SLC6A8):c.1612_1613dup (p.Asn538fs)
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) rs397515558
NM_005629.4(SLC6A8):c.1681G>C (p.Gly561Arg)
NM_005629.4(SLC6A8):c.1699T>C (p.Ser567Pro)
NM_005629.4(SLC6A8):c.1769G>A (p.Arg590His)
NM_005629.4(SLC6A8):c.191_193del (p.Ser64del) rs2091437670
NM_005629.4(SLC6A8):c.199G>C (p.Gly67Arg) rs1557043855
NM_005629.4(SLC6A8):c.229C>A (p.Arg77Ser)
NM_005629.4(SLC6A8):c.263-3_271del
NM_005629.4(SLC6A8):c.342G>C (p.Gln114His) rs2091449037
NM_005629.4(SLC6A8):c.394+2T>G
NM_005629.4(SLC6A8):c.429C>A (p.Tyr143Ter)
NM_005629.4(SLC6A8):c.507G>A (p.Trp169Ter)
NM_005629.4(SLC6A8):c.527_529del (p.Trp176_Asn177delinsTyr)
NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs) rs1557043770
NM_005629.4(SLC6A8):c.619C>T (p.Arg207Trp) rs1557044461
NM_005629.4(SLC6A8):c.626C>G (p.Pro209Arg)
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) rs1603215223
NM_005629.4(SLC6A8):c.748_749del (p.Val250fs) rs1557044569
NM_005629.4(SLC6A8):c.82del (p.Asp28fs)
NM_005629.4(SLC6A8):c.912+2T>G rs2091466607
NM_005629.4(SLC6A8):c.912G>A (p.Gln304=)
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.946dup (p.Ser316fs) rs1569539358
NM_005629.4(SLC6A8):c.97_98del (p.Lys33fs) rs2148358457
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.1129C>T (p.Arg377Cys) rs1559824939
NM_005862.3(STAG1):c.1716dup (p.Ile573fs)
NM_005862.3(STAG1):c.1962dup (p.Asp655Ter)
NM_005862.3(STAG1):c.2009_2012del (p.Asn670fs) rs1559791842
NM_005862.3(STAG1):c.2557dup (p.Glu853fs) rs1560062082
NM_005862.3(STAG1):c.3241C>T (p.Arg1081Ter)
NM_005862.3(STAG1):c.3261del (p.Lys1087fs) rs1553789166
NM_005862.3(STAG1):c.3691C>T (p.Arg1231Ter)
NM_005862.3(STAG1):c.418C>T (p.Arg140Ter)
NM_005862.3(STAG1):c.513del (p.Gln170_Trp171insTer) rs2107905668
NM_005862.3(STAG1):c.625G>C (p.Gly209Arg) rs2107905472
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly) rs1553738686
NM_005876.5(SPEG):c.2183del (p.Leu728fs) rs1575065895
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter) rs587777672
NM_005876.5(SPEG):c.7262_7280dup (p.Ala2428fs)
NM_005876.5(SPEG):c.7795G>T (p.Glu2599Ter)
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_005909.5(MAP1B):c.1002del (p.Glu334fs) rs2112231793
NM_005909.5(MAP1B):c.1594C>T (p.Gln532Ter) rs1554054880
NM_005909.5(MAP1B):c.260_261del (p.Ser87fs)
NM_005909.5(MAP1B):c.2995C>T (p.Arg999Ter)
NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter) rs1554055106
NM_005909.5(MAP1B):c.3362dup (p.Ser1122fs)
NM_005909.5(MAP1B):c.6421C>T (p.Gln2141Ter) rs2111893851
NM_005909.5(MAP1B):c.6715del (p.Asp2238_Leu2239insTer) rs2111894733
NM_005909.5(MAP1B):c.6733del (p.Thr2245fs) rs2111894757
NM_005909.5(MAP1B):c.819del (p.Leu274fs) rs1554054827
NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter) rs1554054831
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)
NM_005957.5(MTHFR):c.1011dup (p.Met338fs)
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His) rs977038830
NM_005957.5(MTHFR):c.112del (p.Asp38fs)
NM_005957.5(MTHFR):c.1151_1152delinsG (p.Phe384fs)
NM_005957.5(MTHFR):c.1166+1G>T
NM_005957.5(MTHFR):c.1166+5G>C rs1483632178
NM_005957.5(MTHFR):c.1246G>T (p.Glu416Ter)
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) rs200137991
NM_005957.5(MTHFR):c.1279del (p.Ser427fs)
NM_005957.5(MTHFR):c.1304T>C (p.Phe435Ser)
NM_005957.5(MTHFR):c.1347+2T>C
NM_005957.5(MTHFR):c.1348-1G>C
NM_005957.5(MTHFR):c.1499G>A (p.Trp500Ter)
NM_005957.5(MTHFR):c.1502_1503del (p.Gly501fs)
NM_005957.5(MTHFR):c.1525C>T (p.Gln509Ter)
NM_005957.5(MTHFR):c.1530+1G>T
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005957.5(MTHFR):c.1547dup (p.Thr517fs)
NM_005957.5(MTHFR):c.1603C>T (p.Arg535Trp)
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)
NM_005957.5(MTHFR):c.1640dup (p.Asn547fs)
NM_005957.5(MTHFR):c.1663C>T (p.Gln555Ter)
NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)
NM_005957.5(MTHFR):c.1750_1752+1del
NM_005957.5(MTHFR):c.176G>A (p.Trp59Ter)
NM_005957.5(MTHFR):c.1786G>T (p.Gly596Ter)
NM_005957.5(MTHFR):c.1828del (p.Gln610fs)
NM_005957.5(MTHFR):c.202C>T (p.Arg68Ter) rs763539350
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter) rs776969786
NM_005957.5(MTHFR):c.273dup (p.Asp92fs) rs2100568604
NM_005957.5(MTHFR):c.474A>T (p.Gly158=) rs199476142
NM_005957.5(MTHFR):c.476-2A>T
NM_005957.5(MTHFR):c.509del (p.Gly170fs)
NM_005957.5(MTHFR):c.523G>A (p.Ala175Thr) rs1182635980
NM_005957.5(MTHFR):c.532_540delinsT (p.Leu178fs)
NM_005957.5(MTHFR):c.591C>A (p.Tyr197Ter)
NM_005957.5(MTHFR):c.655dup (p.Ser219fs)
NM_005957.5(MTHFR):c.867_868insG (p.Asn290fs) rs1644227005
NM_005984.5(SLC25A1):c.121T>C (p.Cys41Arg)
NM_005993.4(TBCD):c.1150_1171del rs751754677
NM_005993.5(TBCD):c.1126G>A (p.Val376Met) rs183349235
NM_005993.5(TBCD):c.1504C>G (p.Arg502Gly) rs752953575
NM_005993.5(TBCD):c.1739G>A (p.Arg580Gln) rs780523169
NM_005993.5(TBCD):c.2077C>A (p.Pro693Thr)
NM_005993.5(TBCD):c.230A>G (p.His77Arg) rs1409600874
NM_005993.5(TBCD):c.2380-1G>A rs1599617641
NM_005993.5(TBCD):c.2472-2A>G
NM_005993.5(TBCD):c.2983del (p.Glu995fs)
NM_005993.5(TBCD):c.345_346del (p.Tyr115_Lys116delinsTer)
NM_006005.3(WFS1):c.923C>G (p.Ser308Cys) rs2109125016
NM_006009.4(TUBA1A):c.1049G>T (p.Gly350Val) rs1942166930
NM_006009.4(TUBA1A):c.1084G>C (p.Val362Leu) rs1942166073
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.4(TUBA1A):c.1129A>G (p.Met377Val) rs587784481
NM_006009.4(TUBA1A):c.1144A>G (p.Thr382Ala) rs1555162294
NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val) rs587784482
NM_006009.4(TUBA1A):c.1156G>A (p.Glu386Lys) rs1942164890
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg) rs1942164218
NM_006009.4(TUBA1A):c.1204C>A (p.Arg402Ser) rs587784483
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.1225G>T (p.Val409Phe)
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006009.4(TUBA1A):c.1261G>A (p.Ala421Thr) rs1592259391
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) rs137853050
NM_006009.4(TUBA1A):c.1268A>G (p.Glu423Gly)
NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys) rs587784484
NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala) rs1555162242
NM_006009.4(TUBA1A):c.137A>T (p.Asp46Val) rs2121248103
NM_006009.4(TUBA1A):c.152C>T (p.Thr51Ile) rs587784485
NM_006009.4(TUBA1A):c.162T>A (p.Ser54Arg) rs587784486
NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn) rs1565627707
NM_006009.4(TUBA1A):c.196_206delinsACGTGTGTCGC (p.Val66_Asp69delinsThrCysValAla)
NM_006009.4(TUBA1A):c.217A>G (p.Thr73Ala) rs1592260393
NM_006009.4(TUBA1A):c.235C>T (p.Arg79Cys) rs1555162507
NM_006009.4(TUBA1A):c.236G>A (p.Arg79His) rs1942181364
NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly) rs797046072
NM_006009.4(TUBA1A):c.3+3del rs2121256921
NM_006009.4(TUBA1A):c.302A>G (p.Asn101Ser) rs1565627526
NM_006009.4(TUBA1A):c.321C>G (p.His107Gln) rs1565627513
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met) rs863224938
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln) rs2121246284
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) rs886039513
NM_006009.4(TUBA1A):c.368G>A (p.Arg123His) rs1555162456
NM_006009.4(TUBA1A):c.449C>T (p.Thr150Ile) rs1565627339
NM_006009.4(TUBA1A):c.47T>C (p.Ile16Thr) rs1942187200
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.52A>T (p.Asn18Tyr)
NM_006009.4(TUBA1A):c.539C>T (p.Ala180Val) rs2121244643
NM_006009.4(TUBA1A):c.598T>C (p.Cys200Arg) rs1942172759
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.609G>A (p.Met203Ile) rs2121244334
NM_006009.4(TUBA1A):c.635_640del (p.Ile212_Arg214delinsSer) rs2121244201
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.657T>G (p.Ile219Met) rs146680997
NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg) rs587784492
NM_006009.4(TUBA1A):c.703G>C (p.Val235Leu) rs1565627190
NM_006009.4(TUBA1A):c.746A>G (p.Asn249Ser) rs1942171146
NM_006009.4(TUBA1A):c.74G>A (p.Cys25Tyr) rs1565627777
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.806T>C (p.Leu269Pro) rs2121243526
NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) rs587784494
NM_006009.4(TUBA1A):c.818C>A (p.Ala273Asp) rs2121243396
NM_006009.4(TUBA1A):c.870G>T (p.Glu290Asp)
NM_006009.4(TUBA1A):c.875C>T (p.Thr292Ile)
NM_006009.4(TUBA1A):c.879_899del (p.Ala294_Asn300del)
NM_006009.4(TUBA1A):c.920C>T (p.Pro307Leu) rs1555162325
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys) rs1942168488
NM_006009.4(TUBA1A):c.962G>A (p.Gly321Asp)
NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu) rs797046073
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr) rs587784497
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly) rs375761808
NM_006063.3(KLHL41):c.1416dup (p.Gly473fs) rs749464576
NM_006063.3(KLHL41):c.1561_1562+2del
NM_006063.3(KLHL41):c.215del (p.Lys72fs) rs775513051
NM_006063.3(KLHL41):c.881_890del (p.Asp294fs)
NM_006086.4(TUBB3):c.1163T>C (p.Met388Thr) rs2030427823
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.589G>A (p.Glu197Lys) rs863225081
NM_006245.4(PPP2R5D):c.590A>G (p.Glu197Gly) rs1339608272
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006245.4(PPP2R5D):c.599_602delinsGGCA (p.Glu200_Pro201delinsGlyHis) rs1762135444
NM_006245.4(PPP2R5D):c.621G>C (p.Trp207Cys) rs2150278805
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro) rs1762136390
NM_006245.4(PPP2R5D):c.649T>C (p.Phe217Leu)
NM_006245.4(PPP2R5D):c.748G>A (p.Glu250Lys) rs1762178779
NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn) rs1762178916
NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His) rs1762178916
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006261.5(PROP1):c.109+1G>T rs1214465435
NM_006261.5(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.5(PROP1):c.129dup (p.Arg44fs) rs2113064591
NM_006261.5(PROP1):c.156dup (p.Arg53fs) rs1554182514
NM_006261.5(PROP1):c.191dup (p.Arg65fs) rs1554182507
NM_006261.5(PROP1):c.197dup (p.His67fs) rs1057517424
NM_006261.5(PROP1):c.211C>T (p.Arg71Cys)
NM_006261.5(PROP1):c.274C>T (p.Gln92Ter) rs794726693
NM_006261.5(PROP1):c.288_289del (p.Ile96fs) rs1057516832
NM_006261.5(PROP1):c.2T>C (p.Met1Thr) rs1554182645
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006261.5(PROP1):c.310del (p.Arg104fs) rs786204663
NM_006261.5(PROP1):c.340C>T (p.Gln114Ter) rs1554182481
NM_006261.5(PROP1):c.342+1G>A rs1436089021
NM_006261.5(PROP1):c.343-1G>A
NM_006261.5(PROP1):c.343-2A>T rs1057517041
NM_006261.5(PROP1):c.386_387dup (p.Ser130fs) rs1554182405
NM_006261.5(PROP1):c.390_391del (p.Leu131fs) rs1057517027
NM_006261.5(PROP1):c.3G>C (p.Met1Ile) rs1064797071
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter) rs140016178
NM_006261.5(PROP1):c.557del (p.Ala186fs) rs762529663
NM_006261.5(PROP1):c.568C>T (p.Gln190Ter)
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter) rs121917845
NM_006261.5(PROP1):c.611del (p.Gly204fs) rs1554182368
NM_006261.5(PROP1):c.629del (p.Pro210fs) rs761018422
NM_006261.5(PROP1):c.629dup (p.Pro211fs) rs761018422
NM_006261.5(PROP1):c.74_75dup (p.His26fs) rs1554182632
NM_006420.3(ARFGEF2):c.2821C>T (p.Arg941Ter)
NM_006420.3(ARFGEF2):c.4269del (p.Leu1424fs) rs2091529784
NM_006420.3(ARFGEF2):c.91C>T (p.Gln31Ter)
NM_006565.4(CTCF):c.-3_2delinsTC (p.Met1del) rs2142822830
NM_006565.4(CTCF):c.1006G>C (p.Glu336Gln) rs2142839453
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006565.4(CTCF):c.1025G>A (p.Arg342His) rs1002125753
NM_006565.4(CTCF):c.1079G>T (p.Ser360Ile) rs1597718106
NM_006565.4(CTCF):c.1118A>C (p.His373Pro) rs2142847343
NM_006565.4(CTCF):c.1119T>A (p.His373Gln) rs2142847350
NM_006565.4(CTCF):c.1226G>A (p.Cys409Tyr) rs2142849459
NM_006565.4(CTCF):c.1365C>G (p.His455Gln) rs1597725291
NM_006565.4(CTCF):c.1376A>C (p.Gln459Pro)
NM_006565.4(CTCF):c.1960C>T (p.Arg654Ter) rs2142887156
NM_006565.4(CTCF):c.442dup (p.Ala148fs)
NM_006565.4(CTCF):c.721_722del (p.Asn241fs)
NM_006565.4(CTCF):c.782-1G>A
NM_006565.4(CTCF):c.782-1G>C rs2142827936
NM_006565.4(CTCF):c.782-1G>T rs2142827936
NM_006565.4(CTCF):c.782-2A>G rs1555534189
NM_006565.4(CTCF):c.848G>A (p.Arg283His) rs1567609067
NM_006565.4(CTCF):c.867_868dup (p.Asp290fs)
NM_006565.4(CTCF):c.881A>C (p.His294Pro) rs2052068772
NM_006565.4(CTCF):c.958C>G (p.Arg320Gly) rs1161257134
NM_006565.4(CTCF):c.979T>A (p.Cys327Ser) rs2052136913
NM_006623.4(PHGDH):c.1078+1G>A rs1224279673
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr) rs951372478
NM_006623.4(PHGDH):c.412-1G>C rs1651455730
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006623.4(PHGDH):c.901del (p.Val301fs) rs1571013274
NM_006766.5(KAT6A):c.1039_1040del (p.Thr347fs)
NM_006766.5(KAT6A):c.1907_1908del (p.Lys636fs)
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006766.5(KAT6A):c.2842C>T (p.Arg948Ter) rs1211232252
NM_006766.5(KAT6A):c.3055C>T (p.Arg1019Ter) rs1554680902
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006766.5(KAT6A):c.3596del (p.Gly1199fs) rs1554680188
NM_006766.5(KAT6A):c.3721del (p.Glu1241fs)
NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs) rs2150856658
NM_006766.5(KAT6A):c.4070del (p.Gln1357fs) rs1821721248
NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs)
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs)
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn) rs1821677301
NM_006766.5(KAT6A):c.4666A>T (p.Ile1556Phe) rs1821677152
NM_006766.5(KAT6A):c.4667T>C (p.Ile1556Thr)
NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer) rs1554679726
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter) rs2150855722
NM_006766.5(KAT6A):c.5123del (p.Asn1708fs) rs2150855326
NM_006766.5(KAT6A):c.5161_5165del (p.Pro1721fs)
NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs)
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) rs730882237
NM_006901.4(MYO9A):c.3001-2A>G rs2143524373
NM_006908.5(RAC1):c.168G>C (p.Trp56Cys) rs1783105049
NM_006908.5(RAC1):c.190T>C (p.Tyr64His)
NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys) rs2115201389
NM_006908.5(RAC1):c.198A>T (p.Arg66Ser) rs1783105291
NM_006908.5(RAC1):c.212C>T (p.Ser71Phe) rs2115201430
NM_006915.3(RP2):c.102G>A (p.Lys34=) rs1556313552
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_007078.3(LDB3):c.321+1G>A
NM_007118.4(TRIO):c.1863C>G (p.Tyr621Ter) rs140745100
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007118.4(TRIO):c.2570dup (p.Asn857fs) rs2152340697
NM_007118.4(TRIO):c.2638_2641dup (p.Leu881fs)
NM_007118.4(TRIO):c.298C>T (p.Arg100Ter)
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.3570+3G>A rs2152354197
NM_007118.4(TRIO):c.3571C>T (p.Gln1191Ter)
NM_007118.4(TRIO):c.3657dup (p.Cys1220fs) rs1554068529
NM_007118.4(TRIO):c.4103A>G (p.Asp1368Gly) rs2152363791
NM_007118.4(TRIO):c.4276G>T (p.Val1426Phe) rs1579522661
NM_007118.4(TRIO):c.4300C>T (p.Leu1434Phe) rs1747352673
NM_007118.4(TRIO):c.4343G>A (p.Gly1448Glu)
NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg) rs1747667518
NM_007118.4(TRIO):c.4387C>T (p.Arg1463Ter) rs748670822
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007118.4(TRIO):c.4495del (p.Thr1499fs) rs2152373759
NM_007118.4(TRIO):c.4649dup (p.Asp1551fs)
NM_007118.4(TRIO):c.4716G>A (p.Lys1572=)
NM_007118.4(TRIO):c.4860-2A>G rs1579564431
NM_007118.4(TRIO):c.5680T>A (p.Leu1894Ile) rs2126522675
NM_007118.4(TRIO):c.5763+1G>T
NM_007118.4(TRIO):c.6153+1G>A rs1755124330
NM_007118.4(TRIO):c.651_652del (p.Arg217fs) rs1736840999
NM_007118.4(TRIO):c.6554_6557del (p.Glu2185fs) rs2126611738
NM_007118.4(TRIO):c.7317_7345del (p.Ser2440fs)
NM_007118.4(TRIO):c.757dup (p.Ala253fs)
NM_007129.5(ZIC2):c.1004del (p.Cys335fs)
NM_007129.5(ZIC2):c.1200_1205del (p.Lys400_Tyr402delinsAsn) rs2053256914
NM_007129.5(ZIC2):c.1213_1216delinsGCATGT (p.Pro405fs)
NM_007129.5(ZIC2):c.1225C>T (p.Arg409Trp) rs1594291868
NM_007129.5(ZIC2):c.1229_1234del (p.Lys410_His411del) rs1566405714
NM_007129.5(ZIC2):c.1243del (p.His415fs) rs2152163697
NM_007129.5(ZIC2):c.1245T>G (p.His415Gln) rs794729641
NM_007129.5(ZIC2):c.1388_1389insAGCGGCGGCGGCAGCGGCGGCGGCAGCGGCGGC (p.Ala470_Val471insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_007129.5(ZIC2):c.381_382del (p.Asp128fs) rs1456001894
NM_007217.4(PDCD10):c.575dup (p.Ser193fs) rs1559941951
NM_007217.4(PDCD10):c.584dup (p.Asn195fs) rs1559941903
NM_007217.4(PDCD10):c.73_76dup (p.Met26fs)
NM_007363.5(NONO):c.1191_1192del (p.Asn397fs) rs2031508845
NM_007363.5(NONO):c.1242del (p.Gly415fs) rs2148040741
NM_007363.5(NONO):c.276_288del (p.Lys92fs)
NM_007363.5(NONO):c.315_318del (p.His106fs) rs2148033533
NM_007363.5(NONO):c.322_348+280del rs2148033540
NM_007363.5(NONO):c.651-1G>C rs2031456898
NM_012090.5(MACF1):c.1972C>T (p.Leu658Phe) rs2148401189
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs) rs1564217246
NM_012210.4(TRIM32):c.1560del (p.Cys521fs) rs1588218453
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs) rs749696299
NM_012210.4(TRIM32):c.865_866insG (p.Leu289fs)
NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter) rs2104943498
NM_012233.3(RAB3GAP1):c.2290-17_2290del
NM_012233.3(RAB3GAP1):c.2393_2394del (p.Leu798fs)
NM_012233.3(RAB3GAP1):c.297del (p.Gln99fs) rs2104879312
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter) rs1553444644
NM_012233.3(RAB3GAP1):c.540dup (p.Cys181fs)
NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) rs1569234334
NM_012414.4(RAB3GAP2):c.1040+1G>T
NM_012414.4(RAB3GAP2):c.1201del (p.Ala400_Val401insTer)
NM_012414.4(RAB3GAP2):c.1715-1G>A
NM_013275.6(ANKRD11):c.1009C>T (p.Gln337Ter) rs2151766442
NM_013275.6(ANKRD11):c.1018dup (p.Thr340fs) rs2151766359
NM_013275.6(ANKRD11):c.1063C>T (p.Gln355Ter)
NM_013275.6(ANKRD11):c.1119del (p.Glu374fs)
NM_013275.6(ANKRD11):c.1518_1536del (p.Leu507fs)
NM_013275.6(ANKRD11):c.1708_1711del (p.Thr571fs) rs2151763094
NM_013275.6(ANKRD11):c.1861A>T (p.Lys621Ter) rs2151762320
NM_013275.6(ANKRD11):c.1974_1977dup (p.Glu660fs)
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.2006A>C (p.Asp669Ala) rs1597462279
NM_013275.6(ANKRD11):c.2063dup (p.His689fs)
NM_013275.6(ANKRD11):c.2089G>T (p.Glu697Ter) rs2151761457
NM_013275.6(ANKRD11):c.2092_2096del (p.Glu698fs) rs2034502951
NM_013275.6(ANKRD11):c.211_226+1del
NM_013275.6(ANKRD11):c.2161dup (p.Ile721fs)
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.226G>A (p.Glu76Lys) rs1555535454
NM_013275.6(ANKRD11):c.2297_2300del (p.Lys766fs) rs2034487965
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter) rs1597461100
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs) rs886039902
NM_013275.6(ANKRD11):c.2499_2502del (p.Ser834fs)
NM_013275.6(ANKRD11):c.2609_2612dup (p.Asp871fs) rs1597459998
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.2647del (p.Glu883fs) rs2151758908
NM_013275.6(ANKRD11):c.277_283dup (p.Gly95fs)
NM_013275.6(ANKRD11):c.2853_2856del (p.Lys952fs) rs2151757918
NM_013275.6(ANKRD11):c.291del (p.Phe98fs)
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter) rs752918694
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter) rs1064793539
NM_013275.6(ANKRD11):c.3201dup (p.Asp1068fs)
NM_013275.6(ANKRD11):c.3228_3232del (p.Arg1076fs)
NM_013275.6(ANKRD11):c.3268del (p.Ala1090fs)
NM_013275.6(ANKRD11):c.3547_3548del (p.Asp1183fs)
NM_013275.6(ANKRD11):c.3597_3598del (p.Lys1200fs)
NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter) rs1555528356
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs) rs2151753260
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter) rs2034353033
NM_013275.6(ANKRD11):c.4140_4141del (p.Tyr1380_Lys1381delinsTer)
NM_013275.6(ANKRD11):c.4288A>T (p.Lys1430Ter) rs1555527929
NM_013275.6(ANKRD11):c.4306_4307del (p.Glu1436fs)
NM_013275.6(ANKRD11):c.4333_4336del (p.Leu1445fs)
NM_013275.6(ANKRD11):c.4381_4382del (p.Lys1461fs) rs2034308476
NM_013275.6(ANKRD11):c.4634del (p.Pro1545fs)
NM_013275.6(ANKRD11):c.496G>T (p.Glu166Ter)
NM_013275.6(ANKRD11):c.5053del (p.His1684_Met1685insTer) rs1555527341
NM_013275.6(ANKRD11):c.5089C>T (p.Gln1697Ter)
NM_013275.6(ANKRD11):c.5146G>T (p.Glu1716Ter)
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter) rs2151745705
NM_013275.6(ANKRD11):c.5558dup (p.Asp1854fs)
NM_013275.6(ANKRD11):c.5865del (p.Glu1955fs) rs2034142706
NM_013275.6(ANKRD11):c.5974A>C (p.Lys1992Gln) rs763207005
NM_013275.6(ANKRD11):c.6101del (p.Leu2034fs)
NM_013275.6(ANKRD11):c.626G>A (p.Cys209Tyr)
NM_013275.6(ANKRD11):c.637del (p.Tyr213fs)
NM_013275.6(ANKRD11):c.6469del (p.Glu2157fs) rs2034054366
NM_013275.6(ANKRD11):c.6685G>T (p.Glu2229Ter)
NM_013275.6(ANKRD11):c.6739_6740insCC (p.Glu2247fs)
NM_013275.6(ANKRD11):c.6766C>T (p.Gln2256Ter) rs1168428802
NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter) rs2151730563
NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter) rs863225296
NM_013275.6(ANKRD11):c.7225G>T (p.Glu2409Ter)
NM_013275.6(ANKRD11):c.7234C>T (p.Gln2412Ter) rs886042019
NM_013275.6(ANKRD11):c.7267A>T (p.Lys2423Ter)
NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly) rs1064795497
NM_013275.6(ANKRD11):c.7355G>C (p.Arg2452Pro) rs781584370
NM_013275.6(ANKRD11):c.7407C>G (p.Tyr2469Ter) rs370673579
NM_013275.6(ANKRD11):c.744G>C (p.Lys248Asn) rs2151783410
NM_013275.6(ANKRD11):c.7523A>T (p.Gln2508Leu) rs2151703297
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.7544T>C (p.Leu2515Pro) rs2151703162
NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys) rs2033533123
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln) rs2033511172
NM_013275.6(ANKRD11):c.7663T>C (p.Cys2555Arg)
NM_013275.6(ANKRD11):c.7684G>A (p.Glu2562Lys) rs2151701503
NM_013275.6(ANKRD11):c.7714-1G>C rs2151676035
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)
NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp) rs1555521799
NM_013275.6(ANKRD11):c.7765T>C (p.Ser2589Pro) rs2151675756
NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter) rs2033085976
NM_013275.6(ANKRD11):c.7944C>A (p.Tyr2648Ter) rs972669347
NM_013275.6(ANKRD11):c.893-2A>G rs2151766883
NM_013275.6(ANKRD11):c.977del (p.Gly326fs) rs1555529979
NM_013382.5(POMT2):c.[1170_1171delTA];[1261C>T]
NM_013382.7(POMT2):c.1006+4_1006+7del rs1594794303
NM_013382.7(POMT2):c.1183+1G>A
NM_013382.7(POMT2):c.1184-1G>C
NM_013382.7(POMT2):c.118C>T (p.Arg40Ter)
NM_013382.7(POMT2):c.1254-2A>G
NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)
NM_013382.7(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.7(POMT2):c.1329_1332+5del rs1566648219
NM_013382.7(POMT2):c.1333-14G>A rs918556979
NM_013382.7(POMT2):c.1341_1342del (p.Asp449fs)
NM_013382.7(POMT2):c.141G>A (p.Trp47Ter)
NM_013382.7(POMT2):c.1484+1G>A
NM_013382.7(POMT2):c.163dup (p.Val55fs)
NM_013382.7(POMT2):c.1654-2A>T
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.1704G>A (p.Trp568Ter)
NM_013382.7(POMT2):c.1706_1712del (p.His569fs) rs2140169285
NM_013382.7(POMT2):c.1712dup (p.Ile572fs) rs780725241
NM_013382.7(POMT2):c.1726-1dup rs1229291913
NM_013382.7(POMT2):c.1738T>C (p.Ser580Pro) rs370529777
NM_013382.7(POMT2):c.1781A>G (p.Asn594Ser)
NM_013382.7(POMT2):c.1786-2A>T
NM_013382.7(POMT2):c.188del (p.Leu63fs)
NM_013382.7(POMT2):c.1891+1G>C
NM_013382.7(POMT2):c.1891+2T>C rs1594884932
NM_013382.7(POMT2):c.1892-1G>C
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.7(POMT2):c.2032+1G>A rs2140161850
NM_013382.7(POMT2):c.2147+1del
NM_013382.7(POMT2):c.2159del (p.Phe720fs) rs1890013661
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg) rs267606964
NM_013382.7(POMT2):c.248+1G>A
NM_013382.7(POMT2):c.248+1G>T
NM_013382.7(POMT2):c.253del (p.Asp85fs)
NM_013382.7(POMT2):c.333+1G>T
NM_013382.7(POMT2):c.548-2A>G
NM_013382.7(POMT2):c.656+1G>A
NM_013382.7(POMT2):c.673del (p.Trp225fs) rs1594796439
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) rs1589088690
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014023.4(WDR37):c.386C>G (p.Ser129Cys) rs1589088702
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) rs1589088703
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014231.5(VAMP1):c.340del (p.Ile114fs) rs746220436
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014254.3(RXYLT1):c.1024del (p.Tyr342fs)
NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter) rs1565899712
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.294del (p.Ile99fs) rs1597331616
NM_014336.5(AIPL1):c.40A>G (p.Lys14Glu)
NM_014336.5(AIPL1):c.465G>T (p.Gln155His) rs758001091
NM_014336.5(AIPL1):c.466-1G>C rs1567637467
NM_014336.5(AIPL1):c.773G>C (p.Arg258Pro) rs751881283
NM_014336.5(AIPL1):c.809G>A (p.Arg270His)
NM_014336.5(AIPL1):c.814del (p.Arg272fs) rs2150675032
NM_014336.5(AIPL1):c.963_993dup (p.Thr332fs) rs2150674258
NM_014336.5(AIPL1):c.97-1G>A
NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter) rs1208703297
NM_014795.4(ZEB2):c.-69-2A>C
NM_014795.4(ZEB2):c.1168del (p.Ile390fs) rs1553961747
NM_014795.4(ZEB2):c.1683_1689dup (p.Asp564fs) rs1703278635
NM_014795.4(ZEB2):c.1884del (p.Phe628fs) rs786204811
NM_014795.4(ZEB2):c.2180del (p.Leu727fs) rs786204810
NM_014795.4(ZEB2):c.2273_2274del (p.Leu758fs)
NM_014795.4(ZEB2):c.2384del (p.Asn795fs) rs2149876640
NM_014795.4(ZEB2):c.247dup (p.Glu83fs) rs1553964145
NM_014795.4(ZEB2):c.2865C>G (p.Tyr955Ter) rs2149876315
NM_014795.4(ZEB2):c.2866C>T (p.Gln956Ter)
NM_014795.4(ZEB2):c.2890G>T (p.Glu964Ter)
NM_014795.4(ZEB2):c.2932G>T (p.Asp978Tyr) rs863224942
NM_014795.4(ZEB2):c.2973del (p.Lys992fs) rs1703231315
NM_014795.4(ZEB2):c.3023T>G (p.Phe1008Cys) rs1553961332
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_014795.4(ZEB2):c.3067+2T>G
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs) rs1060500653
NM_014795.4(ZEB2):c.3118C>T (p.His1040Tyr) rs1553960788
NM_014795.4(ZEB2):c.3122A>G (p.His1041Arg) rs1573708153
NM_014795.4(ZEB2):c.3133C>T (p.His1045Tyr) rs1703135134
NM_014795.4(ZEB2):c.3146A>G (p.His1049Arg) rs1114167349
NM_014795.4(ZEB2):c.3160C>G (p.Pro1054Ala)
NM_014795.4(ZEB2):c.3164A>G (p.Tyr1055Cys) rs1135402759
NM_014795.4(ZEB2):c.3200C>A (p.Ser1067Ter) rs1423851170
NM_014795.4(ZEB2):c.3214C>T (p.Gln1072Ter) rs1703133912
NM_014795.4(ZEB2):c.3227dup (p.His1076fs)
NM_014795.4(ZEB2):c.329del (p.Pro110fs)
NM_014795.4(ZEB2):c.332-3C>G
NM_014795.4(ZEB2):c.441C>G (p.Tyr147Ter)
NM_014795.4(ZEB2):c.564del (p.Pro189fs)
NM_014795.4(ZEB2):c.639C>A (p.Cys213Ter) rs1451961075
NM_014795.4(ZEB2):c.66del (p.Asn24fs) rs2149935119
NM_014795.4(ZEB2):c.73+2T>C rs398124282
NM_014795.4(ZEB2):c.851G>A (p.Cys284Tyr) rs1703306516
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs) rs2149877962
NM_014795.4(ZEB2):c.899A>G (p.His300Arg) rs1573718595
NM_014795.4(ZEB2):c.916+1G>T rs2149877941
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp) rs1703292916
NM_014845.6(FIG4):c.691A>G (p.Asn231Asp)
NM_014846.4(WASHC5):c.1151-2A>G rs1563627853
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014846.4(WASHC5):c.186+1G>C
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser) rs1060502725
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp) rs397515564
NM_014846.4(WASHC5):c.2954+3_2954+4delinsGC
NM_014846.4(WASHC5):c.3209del (p.Pro1070fs)
NM_014846.4(WASHC5):c.740G>A (p.Arg247His)
NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro) rs1660016633
NM_014991.6(WDFY3):c.1670T>C (p.Leu557Pro) rs1753844425
NM_014991.6(WDFY3):c.2785C>T (p.Arg929Ter)
NM_014991.6(WDFY3):c.5114_5115del (p.Lys1705fs) rs2149390162
NM_014991.6(WDFY3):c.5825C>T (p.Ser1942Leu)
NM_014991.6(WDFY3):c.8287C>T (p.Arg2763Ter) rs750764507
NM_014991.6(WDFY3):c.8693del (p.Leu2898fs)
NM_014991.6(WDFY3):c.8901+1G>A
NM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter) rs866536893
NM_014991.6(WDFY3):c.957-2A>G rs1754957238
NM_015046.7(SETX):c.5222dup (p.Asp1742fs) rs730882209
NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter) rs1657533128
NM_015100.4(POGZ):c.1417T>C (p.Tyr473His)
NM_015100.4(POGZ):c.1524-3C>G rs367963956
NM_015100.4(POGZ):c.1679-3C>G rs376091120
NM_015100.4(POGZ):c.1727T>C (p.Leu576Pro) rs1057519392
NM_015100.4(POGZ):c.1748A>G (p.His583Arg) rs1131692270
NM_015100.4(POGZ):c.1863C>A (p.Cys621Ter)
NM_015100.4(POGZ):c.1A>G (p.Met1Val) rs2102371063
NM_015100.4(POGZ):c.2324_2325insTT (p.Arg777fs) rs2102164714
NM_015100.4(POGZ):c.2433-1G>C
NM_015100.4(POGZ):c.2508del (p.Phe836fs)
NM_015100.4(POGZ):c.2520_2521del (p.His840fs) rs886042027
NM_015100.4(POGZ):c.2545+1del rs1571332089
NM_015100.4(POGZ):c.2545+2del rs2102155019
NM_015100.4(POGZ):c.2569A>G (p.Arg857Gly) rs2102152736
NM_015100.4(POGZ):c.2604del (p.Asn869fs) rs1553213126
NM_015100.4(POGZ):c.2729C>G (p.Ser910Ter)
NM_015100.4(POGZ):c.2771dup (p.Gln925fs)
NM_015100.4(POGZ):c.2836del (p.Asp946fs) rs1571326296
NM_015100.4(POGZ):c.2849dup (p.Val951fs) rs1653560615
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015100.4(POGZ):c.3041del (p.Gln1014fs) rs796052217
NM_015100.4(POGZ):c.3046del (p.Glu1016fs)
NM_015100.4(POGZ):c.3124C>T (p.Gln1042Ter)
NM_015100.4(POGZ):c.3179_3180del (p.Ser1060fs) rs1653497680
NM_015100.4(POGZ):c.3206_3207del (p.Ser1068_Tyr1069insTer) rs1553212374
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015100.4(POGZ):c.3351del (p.Leu1117fs)
NM_015100.4(POGZ):c.3361_3362del (p.Met1121fs) rs2102145038
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.62del (p.Ile21fs) rs1660633733
NM_015100.4(POGZ):c.64del (p.Ser22fs) rs2102370816
NM_015100.4(POGZ):c.692del (p.Ile231fs) rs1658105150
NM_015100.4(POGZ):c.7del (p.Asp3fs)
NM_015107.3(PHF8):c.1995+1G>A
NM_015107.3(PHF8):c.2444-2A>G rs1603305030
NM_015107.3(PHF8):c.2455del (p.Leu819fs) rs2065126287
NM_015272.5(RPGRIP1L):c.872A>G (p.Gln291Arg)
NM_015335.5(MED13L):c.1218dup (p.Ser407Ter) rs2137404791
NM_015335.5(MED13L):c.1338_1341dup (p.Gly448fs) rs1555248025
NM_015335.5(MED13L):c.2032_2035del (p.Lys678fs)
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.5(MED13L):c.2239-11T>G rs2137373566
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.5(MED13L):c.2600C>T (p.Thr867Ile) rs1555246143
NM_015335.5(MED13L):c.2606C>T (p.Pro869Leu)
NM_015335.5(MED13L):c.2996+1G>A rs1878413465
NM_015335.5(MED13L):c.3034del (p.Tyr1012fs)
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs) rs1878068615
NM_015335.5(MED13L):c.3346_3347dup (p.Asp1117fs) rs2137306954
NM_015335.5(MED13L):c.3380del (p.Asn1127fs) rs2137306817
NM_015335.5(MED13L):c.338G>T (p.Gly113Val)
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile) rs1592923871
NM_015335.5(MED13L):c.3627_3630del (p.Pro1210fs)
NM_015335.5(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_015335.5(MED13L):c.4136C>T (p.Pro1379Leu)
NM_015335.5(MED13L):c.4353del (p.Gln1452fs) rs2137278830
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter) rs1555243580
NM_015335.5(MED13L):c.4792C>T (p.Gln1598Ter) rs2137274539
NM_015335.5(MED13L):c.5039A>G (p.Tyr1680Cys)
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs) rs1877279397
NM_015335.5(MED13L):c.5364+1G>T
NM_015335.5(MED13L):c.5588+1G>A rs1135401810
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs) rs1876855942
NM_015335.5(MED13L):c.5695G>A (p.Gly1899Arg) rs2137241977
NM_015335.5(MED13L):c.5722G>C (p.Glu1908Gln)
NM_015335.5(MED13L):c.5965C>T (p.Gln1989Ter) rs1555241166
NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137
NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter) rs1879951118
NM_015335.5(MED13L):c.82dup (p.Thr28fs) rs1870221353
NM_015335.5(MED13L):c.889_890del (p.Ser297fs)
NM_015338.6(ASXL1):c.1281dup (p.Gln428fs) rs886042532
NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter) rs2123267182
NM_015338.6(ASXL1):c.1751dup (p.Val585fs) rs748946310
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.2324del (p.Arg774_Leu775insTer) rs765327792
NM_015338.6(ASXL1):c.2558del (p.Pro853fs)
NM_015338.6(ASXL1):c.3637del (p.Leu1213fs) rs1569337176
NM_015338.6(ASXL1):c.3677_3678del (p.Leu1226fs)
NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs)
NM_015338.6(ASXL1):c.3769del (p.Ala1257fs) rs1600592990
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs) rs1555912897
NM_015338.6(ASXL1):c.658C>T (p.Gln220Ter) rs2011469981
NM_015338.6(ASXL1):c.69del (p.Tyr24fs) rs2048205050
NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs)
NM_015559.3(SETBP1):c.1955_1956dup (p.Gly653fs)
NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr) rs2071362354
NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr) rs2145105580
NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg)
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015559.3(SETBP1):c.2982C>G (p.Tyr994Ter) rs2071377438
NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter) rs2129556993
NM_015570.4(AUTS2):c.1486dup (p.Gln496fs) rs869312878
NM_015570.4(AUTS2):c.1557C>A (p.Tyr519Ter)
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro) rs1563183469
NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr) rs1563183492
NM_015570.4(AUTS2):c.1604A>C (p.His535Pro) rs1585653240
NM_015570.4(AUTS2):c.1611C>A (p.His537Gln) rs1383001370
NM_015570.4(AUTS2):c.1647dup (p.Ile550fs)
NM_015570.4(AUTS2):c.1775del (p.Pro592fs)
NM_015570.4(AUTS2):c.2005-1G>C
NM_015570.4(AUTS2):c.2224+1G>T
NM_015570.4(AUTS2):c.2481_2484dup (p.Asp829Ter)
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_015570.4(AUTS2):c.454C>T (p.Arg152Ter)
NM_015570.4(AUTS2):c.478C>T (p.Gln160Ter) rs2129540473
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter) rs1585645384
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_016023.5(OTUD6B):c.401A>G (p.Glu134Gly)
NM_016023.5(OTUD6B):c.481A>T (p.Lys161Ter) rs767217536
NM_016023.5(OTUD6B):c.731T>G (p.Ile244Arg) rs2130446714
NM_016121.5(KCTD3):c.1036_1073del (p.Pro346fs) rs730882243
NM_016213.4:c.1359_1575del
NM_016213.5(TRIP4):c.1255C>T (p.Gln419Ter) rs2140297426
NM_016213.5(TRIP4):c.336_339del (p.Gln113fs) rs1900263561
NM_016284.5(CNOT1):c.3754_3756dup (p.Phe1252_Arg1253insPhe)
NM_016532.4(INPP5K):c.653G>A (p.Trp218Ter)
NM_016532.4(INPP5K):c.925A>G (p.Ser309Gly)
NM_016580.4(PCDH12):c.2008G>T (p.Glu670Ter) rs531630376
NM_016955.4(SEPSECS):c.388+5G>A rs1057518887
NM_017412.4(FZD3):c.1616dup (p.Asp539fs) rs1563406024
NM_017619.4(RNPC3):c.894-2A>G
NM_017668.3(NDE1):c.658C>T (p.Arg220Ter) rs576928842
NM_017739.4(POMGNT1):c.1006_1007dup (p.Ile337fs)
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.4(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.4(POMGNT1):c.106_107del (p.Arg36fs)
NM_017739.4(POMGNT1):c.1096del (p.Ala366fs)
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs) rs1553163360
NM_017739.4(POMGNT1):c.1110+1G>T
NM_017739.4(POMGNT1):c.1111-1G>A
NM_017739.4(POMGNT1):c.1111-8_1119del
NM_017739.4(POMGNT1):c.1113del (p.Tyr372fs) rs1057517369
NM_017739.4(POMGNT1):c.1117A>T (p.Lys373Ter)
NM_017739.4(POMGNT1):c.1152+1G>A rs1474858292
NM_017739.4(POMGNT1):c.1153-1G>C rs1657900739
NM_017739.4(POMGNT1):c.1153-4_1153-1del
NM_017739.4(POMGNT1):c.120+1G>A
NM_017739.4(POMGNT1):c.120+2T>A rs1658353874
NM_017739.4(POMGNT1):c.121-2A>G rs1057516871
NM_017739.4(POMGNT1):c.121-67_265del rs1658278935
NM_017739.4(POMGNT1):c.121-67_265delinsTAG
NM_017739.4(POMGNT1):c.1212-1G>A rs1553163254
NM_017739.4(POMGNT1):c.1212-1G>C rs1553163254
NM_017739.4(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.4(POMGNT1):c.1229_1232del (p.Ile410fs)
NM_017739.4(POMGNT1):c.1268C>T (p.Ser423Phe) rs1571655768
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.4(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1286G>T (p.Gly429Val) rs751274265
NM_017739.4(POMGNT1):c.1287dup
NM_017739.4(POMGNT1):c.12del (p.Asp3_Trp4insTer)
NM_017739.4(POMGNT1):c.1304_1305del (p.Glu435fs)
NM_017739.4(POMGNT1):c.1319T>G (p.Leu440Arg) rs386834013
NM_017739.4(POMGNT1):c.1343G>A (p.Gly448Glu)
NM_017739.4(POMGNT1):c.1350_1354del (p.Trp451fs) rs386834015
NM_017739.4(POMGNT1):c.137del (p.Phe46fs)
NM_017739.4(POMGNT1):c.1397G>A (p.Trp466Ter)
NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)
NM_017739.4(POMGNT1):c.1413+1G>T rs587777821
NM_017739.4(POMGNT1):c.1414-1G>T
NM_017739.4(POMGNT1):c.1414-2A>C
NM_017739.4(POMGNT1):c.1431del (p.Met477fs)
NM_017739.4(POMGNT1):c.1445_1447delinsA (p.Pro482fs)
NM_017739.4(POMGNT1):c.1450C>T (p.Gln484Ter)
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter) rs727504103
NM_017739.4(POMGNT1):c.1468T>G (p.Cys490Gly)
NM_017739.4(POMGNT1):c.1538_1539+2del rs1057516576
NM_017739.4(POMGNT1):c.1539+1del rs1553163077
NM_017739.4(POMGNT1):c.1540-2A>G rs386834016
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs) rs1176001640
NM_017739.4(POMGNT1):c.1557del (p.Lys519fs)
NM_017739.4(POMGNT1):c.1562del (p.Lys521fs) rs1057517422
NM_017739.4(POMGNT1):c.1585C>T (p.Gln529Ter)
NM_017739.4(POMGNT1):c.1604+1G>A rs1553162873
NM_017739.4(POMGNT1):c.1604+2T>C rs1553162872
NM_017739.4(POMGNT1):c.1605-1G>T rs770219373
NM_017739.4(POMGNT1):c.1605-2A>T rs2148172518
NM_017739.4(POMGNT1):c.1605-2_1606del
NM_017739.4(POMGNT1):c.1649+2T>G rs1268759044
NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn) rs193919335
NM_017739.4(POMGNT1):c.1650-2A>G
NM_017739.4(POMGNT1):c.1650-97_1728del rs2148166991
NM_017739.4(POMGNT1):c.1684dup (p.Cys562fs)
NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs) rs1057516903
NM_017739.4(POMGNT1):c.1695_1698del (p.Phe566fs) rs1057516986
NM_017739.4(POMGNT1):c.1719del (p.His573fs) rs386834017
NM_017739.4(POMGNT1):c.1741_1745del (p.Met581fs) rs749332339
NM_017739.4(POMGNT1):c.1759_1763del (p.Phe587fs) rs1302430730
NM_017739.4(POMGNT1):c.1785+1G>A rs2148166435
NM_017739.4(POMGNT1):c.1785+2T>G rs386834020
NM_017739.4(POMGNT1):c.1786-1G>A rs1457667479
NM_017739.4(POMGNT1):c.1786-2A>G rs1057517340
NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser) rs886044567
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.1814G>T (p.Arg605Leu) rs267606962
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.1864del (p.Phe621_Leu622insTer) rs386834021
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.1895+5_1895+8del rs386834023
NM_017739.4(POMGNT1):c.1896-1G>C rs386834025
NM_017739.4(POMGNT1):c.1905del (p.Lys635fs) rs1553162601
NM_017739.4(POMGNT1):c.1928del (p.Phe643fs) rs386834026
NM_017739.4(POMGNT1):c.208_209del (p.Glu70fs)
NM_017739.4(POMGNT1):c.215dup (p.Glu73fs)
NM_017739.4(POMGNT1):c.226C>T (p.Gln76Ter)
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer) rs1553164129
NM_017739.4(POMGNT1):c.235+2T>C rs2148218654
NM_017739.4(POMGNT1):c.235+2T>G rs2148218654
NM_017739.4(POMGNT1):c.236-1G>C
NM_017739.4(POMGNT1):c.236-1_236del
NM_017739.4(POMGNT1):c.246_262dup (p.Pro88fs) rs2148217590
NM_017739.4(POMGNT1):c.25dup (p.Leu9fs) rs386834027
NM_017739.4(POMGNT1):c.263del (p.Pro88fs) rs1557677980
NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)
NM_017739.4(POMGNT1):c.307del (p.Val103fs)
NM_017739.4(POMGNT1):c.316A>C (p.Ser106Arg)
NM_017739.4(POMGNT1):c.333T>A (p.Tyr111Ter)
NM_017739.4(POMGNT1):c.351del (p.Thr118fs) rs386834028
NM_017739.4(POMGNT1):c.354+1G>A rs1057517449
NM_017739.4(POMGNT1):c.390del (p.Ile131fs)
NM_017739.4(POMGNT1):c.421-29_452del rs2148212111
NM_017739.4(POMGNT1):c.447del (p.Phe149fs) rs386834029
NM_017739.4(POMGNT1):c.458C>A (p.Ser153Ter)
NM_017739.4(POMGNT1):c.478del (p.Met160fs) rs1057517355
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter) rs1424631447
NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro) rs386834030
NM_017739.4(POMGNT1):c.580_581del (p.Arg194fs)
NM_017739.4(POMGNT1):c.584del (p.Ser195fs)
NM_017739.4(POMGNT1):c.593del (p.Ser198fs) rs386834031
NM_017739.4(POMGNT1):c.594C>G (p.Ser198Arg) rs386834032
NM_017739.4(POMGNT1):c.599del (p.Ala200fs)
NM_017739.4(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer) rs1057516478
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter) rs1156647434
NM_017739.4(POMGNT1):c.630G>T (p.Trp210Cys) rs386834033
NM_017739.4(POMGNT1):c.640G>T (p.Gly214Ter)
NM_017739.4(POMGNT1):c.652+1G>A rs386834035
NM_017739.4(POMGNT1):c.653-2A>C rs1553163721
NM_017739.4(POMGNT1):c.667G>A (p.Glu223Lys) rs386834036
NM_017739.4(POMGNT1):c.679_681delinsG (p.Lys227fs)
NM_017739.4(POMGNT1):c.702G>A (p.Trp234Ter)
NM_017739.4(POMGNT1):c.732del (p.Pro245fs)
NM_017739.4(POMGNT1):c.751+2T>G
NM_017739.4(POMGNT1):c.752-2A>G rs1236287516
NM_017739.4(POMGNT1):c.806G>A (p.Cys269Tyr) rs386834037
NM_017739.4(POMGNT1):c.862G>T (p.Glu288Ter)
NM_017739.4(POMGNT1):c.875del (p.Asp292fs) rs1057517247
NM_017739.4(POMGNT1):c.878del (p.Pro293fs) rs752389406
NM_017739.4(POMGNT1):c.879+1G>C rs1553163590
NM_017739.4(POMGNT1):c.879+2T>C rs1057516318
NM_017739.4(POMGNT1):c.879+2T>G
NM_017739.4(POMGNT1):c.879+5G>A rs386834038
NM_017739.4(POMGNT1):c.879+5G>T rs386834038
NM_017739.4(POMGNT1):c.880-1G>A rs1317832573
NM_017739.4(POMGNT1):c.880-1G>C rs1317832573
NM_017739.4(POMGNT1):c.880-2A>G rs1057516830
NM_017739.4(POMGNT1):c.931C>G (p.Arg311Gly)
NM_017739.4(POMGNT1):c.932G>C (p.Arg311Pro)
NM_017739.4(POMGNT1):c.94del (p.Gln32fs)
NM_017739.4(POMGNT1):c.982dup (p.Val328fs) rs386834040
NM_017739.4(POMGNT1):c.987del (p.Pro330fs) rs1057516955
NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter) rs1557673817
NM_017890.4(VPS13B):c.10018_10021delGTTG rs1554579522
NM_017890.4(VPS13B):c.6733_6748del16
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.4:c.3542_3543ins5
NM_017890.4:c.7128_7129ins5
NM_017890.5(VPS13B):c.4158-2A>G rs2133626470
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter) rs2127741566
NM_017934.7(PHIP):c.1283C>G (p.Thr428Ser)
NM_017934.7(PHIP):c.1451C>T (p.Ser484Phe)
NM_017934.7(PHIP):c.1452_1458del (p.Ala485fs)
NM_017934.7(PHIP):c.1463A>T (p.Asp488Val) rs2127740526
NM_017934.7(PHIP):c.1520A>G (p.Asn507Ser)
NM_017934.7(PHIP):c.1523dup (p.Met508fs)
NM_017934.7(PHIP):c.1525A>T (p.Ile509Phe)
NM_017934.7(PHIP):c.1558dup (p.Cys520fs) rs1582206547
NM_017934.7(PHIP):c.1562A>G (p.Lys521Arg) rs1562171209
NM_017934.7(PHIP):c.2039_2040del (p.Glu680fs)
NM_017934.7(PHIP):c.2161C>T (p.Arg721Ter)
NM_017934.7(PHIP):c.2216G>A (p.Trp739Ter)
NM_017934.7(PHIP):c.2564G>A (p.Trp855Ter) rs2127718655
NM_017934.7(PHIP):c.2888A>G (p.Glu963Gly) rs2127714980
NM_017934.7(PHIP):c.2890-2A>G
NM_017934.7(PHIP):c.2978G>A (p.Trp993Ter)
NM_017934.7(PHIP):c.3027A>G (p.Ile1009Met) rs2127705231
NM_017934.7(PHIP):c.3193C>T (p.Arg1065Ter) rs1767406859
NM_017934.7(PHIP):c.3216_3227del (p.Phe1072_Ile1076delinsLeu)
NM_017934.7(PHIP):c.3317G>A (p.Cys1106Tyr) rs2127701393
NM_017934.7(PHIP):c.3502dup (p.Ile1168fs) rs1766898088
NM_017934.7(PHIP):c.3782+3_3782+6del rs1131691771
NM_017934.7(PHIP):c.3902dup (p.Asp1302fs)
NM_017934.7(PHIP):c.3947dup (p.Tyr1316Ter) rs1582100341
NM_017934.7(PHIP):c.40+1G>A rs2127785060
NM_017934.7(PHIP):c.41-7C>A
NM_017934.7(PHIP):c.4102G>T (p.Glu1368Ter)
NM_017934.7(PHIP):c.439+5G>T
NM_017934.7(PHIP):c.4528C>T (p.Arg1510Ter)
NM_017934.7(PHIP):c.4630+2_4630+5del rs2127682146
NM_017934.7(PHIP):c.4631-2A>T rs1773759539
NM_017934.7(PHIP):c.487C>T (p.Arg163Ter) rs2127760440
NM_017934.7(PHIP):c.4979del (p.Gly1660fs)
NM_017934.7(PHIP):c.50T>G (p.Phe17Cys) rs878854420
NM_017934.7(PHIP):c.562T>C (p.Cys188Arg) rs1772296823
NM_017934.7(PHIP):c.600+1G>C
NM_017934.7(PHIP):c.686C>T (p.Ser229Leu) rs755604487
NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr) rs1085307845
NM_017934.7(PHIP):c.894G>A (p.Trp298Ter)
NM_018026.4(PACS1):c.298C>T (p.Gln100Ter)
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018191.4(RCBTB1):c.1172+1G>A rs869312819
NM_018191.4(RCBTB1):c.707del (p.Asn236fs) rs777630688
NM_018249.5(CDK5RAP2):c.[280G>C];[3695A>G]
NM_018341.3(ERMARD):c.1426del (p.His476fs) rs2128365099
NM_018341.3(ERMARD):c.277C>T (p.Arg93Ter)
NM_018341.3(ERMARD):c.605+1G>A rs2128344292
NM_018418.4(SPATA7):c.20_23del rs527236050
NM_018418.5(SPATA7):c.1082+2del
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs) rs777069665
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs) rs1436269510
NM_018418.5(SPATA7):c.1361dup (p.Asn454fs) rs2077137130
NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)
NM_018418.5(SPATA7):c.283C>T (p.Gln95Ter)
NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)
NM_018418.5(SPATA7):c.372+1G>A
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile) rs200244203
NM_018418.5(SPATA7):c.3G>T (p.Met1Ile)
NM_018418.5(SPATA7):c.94+1G>C
NM_018418.5(SPATA7):c.94+2T>C rs786204787
NM_018418.5(SPATA7):c.949dup (p.Ile317fs) rs2140004149
NM_018418.5(SPATA7):c.[388C>T];[657del]
NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs) rs199422203
NM_018684.4(ZC4H2):c.174_178del (p.Glu58fs) rs2147349682
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018684.4(ZC4H2):c.375AGA[1] (p.Glu128del) rs750367160
NM_018684.4(ZC4H2):c.53+10513C>T rs1931569117
NM_018684.4(ZC4H2):c.535_538dup (p.Arg180fs) rs1929057804
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_018684.4(ZC4H2):c.631C>T (p.Arg211Trp) rs1555933616
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs) rs763953657
NM_019023.5(PRMT7):c.1335_1338dup (p.His447Ter)
NM_019023.5(PRMT7):c.1499dup (p.Asp501fs) rs1567739042
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) rs1014959895
NM_019023.5(PRMT7):c.347T>A (p.Ile116Asn) rs2151558358
NM_019023.5(PRMT7):c.457dup (p.Glu153fs) rs2151701931
NM_019023.5(PRMT7):c.927G>T (p.Gln309His) rs1597361540
NM_019066.5(MAGEL2):c.1015C>T (p.Gln339Ter) rs2140717180
NM_019066.5(MAGEL2):c.1104G>A (p.Trp368Ter) rs2140717041
NM_019066.5(MAGEL2):c.1597del (p.Ala533fs)
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_019066.5(MAGEL2):c.1656del (p.Ala553fs)
NM_019066.5(MAGEL2):c.1687C>T (p.Gln563Ter) rs2140715275
NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter) rs1595332731
NM_019066.5(MAGEL2):c.1923dup (p.Val643fs)
NM_019066.5(MAGEL2):c.2055del (p.Trp686fs)
NM_019066.5(MAGEL2):c.2057G>A (p.Trp686Ter) rs768844200
NM_019066.5(MAGEL2):c.2319del (p.Ala772_Trp773insTer)
NM_019066.5(MAGEL2):c.2646del (p.Gly883fs) rs2140713406
NM_019066.5(MAGEL2):c.2840delinsTTT (p.Glu947fs)
NM_019066.5(MAGEL2):c.2847_2883del (p.Ser950fs) rs1890358679
NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer) rs1890356742
NM_019066.5(MAGEL2):c.3131C>A (p.Ser1044Ter) rs1267004913
NM_019066.5(MAGEL2):c.3449_3450del (p.Phe1150fs) rs998860333
NM_019066.5(MAGEL2):c.3583del (p.Met1195fs) rs2140711872
NM_019066.5(MAGEL2):c.648del (p.Thr217fs) rs2140718089
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_020336.3(RALGAPB):c.[1918A>G];[2324G>T]
NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu) rs758022116
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.4(RPGRIP1):c.1152-1749_1763-1241del
NM_020366.4(RPGRIP1):c.1611+27G>A rs1594203796
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.1763-2A>G
NM_020366.4(RPGRIP1):c.219-2A>G rs1880999471
NM_020366.4(RPGRIP1):c.2216-1G>A rs970696880
NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu) rs61751268
NM_020366.4(RPGRIP1):c.2367+1G>A rs1882968821
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys) rs751521888
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.4(RPGRIP1):c.3100-1G>A
NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter) rs1555303320
NM_020366.4(RPGRIP1):c.3533-2A>G
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)
NM_020366.4(RPGRIP1):c.3679G>A (p.Gly1227Arg) rs1885763952
NM_020366.4(RPGRIP1):c.521C>G (p.Pro174Arg) rs780733881
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_020366.4(RPGRIP1):c.772G>T (p.Glu258Ter) rs2139160690
NM_020366.4(RPGRIP1):c.903_906+17del rs886039911
NM_020366.4(RPGRIP1):c.906+2T>G rs1594180201
NM_020451.3(SELENON):c.1011-1G>C rs1333001112
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) rs767530943
NM_020451.3(SELENON):c.1387+1G>A rs2047977957
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) rs779162837
NM_020451.3(SELENON):c.1499dup (p.Asn501fs)
NM_020451.3(SELENON):c.302-1G>C
NM_020451.3(SELENON):c.302-2_302-1del
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.538-1G>A rs2047928865
NM_020451.3(SELENON):c.538-1G>C rs2047928865
NM_020451.3(SELENON):c.600_601del (p.Phe201fs)
NM_020451.3(SELENON):c.748-2_760del rs758934983
NM_020451.3(SELENON):c.817G>A (p.Gly273Arg) rs2124448034
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer) rs797045950
NM_020451.3(SELENON):c.863_864del (p.Val288fs) rs1184282261
NM_020451.3(SELENON):c.872+1G>A rs2047936719
NM_020451.3(SELENON):c.873-2A>G rs1176143542
NM_020549.5(CHAT):c.1060A>T (p.Thr354Ser) rs2132735749
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
NM_020549.5(CHAT):c.1249G>A (p.Gly417Arg)
NM_020549.5(CHAT):c.1254del (p.Asn419fs) rs1272947184
NM_020549.5(CHAT):c.1282-2A>T
NM_020549.5(CHAT):c.1294C>T (p.Arg432Ter)
NM_020549.5(CHAT):c.1382+2_1382+3del
NM_020549.5(CHAT):c.1383-1G>A rs2132811750
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
NM_020549.5(CHAT):c.1418_1419dup (p.Val474fs)
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly) rs121912818
NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)
NM_020549.5(CHAT):c.1663G>A (p.Glu555Lys) rs757303526
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter) rs757303526
NM_020549.5(CHAT):c.1678C>T (p.Arg560Cys)
NM_020549.5(CHAT):c.1715C>A (p.Ser572Ter) rs753652169
NM_020549.5(CHAT):c.1721C>T (p.Thr574Ile) rs1839995781
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
NM_020549.5(CHAT):c.1896_1918del (p.Ala633fs) rs2132852540
NM_020549.5(CHAT):c.1916C>T (p.Pro639Leu)
NM_020549.5(CHAT):c.1977+1_1977+9del rs1207292931
NM_020549.5(CHAT):c.2046C>G (p.Tyr682Ter)
NM_020549.5(CHAT):c.413del (p.Pro138fs)
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
NM_020549.5(CHAT):c.593G>A (p.Trp198Ter)
NM_020549.5(CHAT):c.619C>G (p.Arg207Gly) rs760936252
NM_020549.5(CHAT):c.635T>A (p.Val212Asp) rs1554802792
NM_020549.5(CHAT):c.698+1G>A
NM_020549.5(CHAT):c.698+1G>T
NM_020549.5(CHAT):c.698+2T>C
NM_020549.5(CHAT):c.753-2A>T
NM_020549.5(CHAT):c.982del (p.Asp328fs) rs1590576560
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.1432C>T (p.Arg478Ter) rs761820222
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter) rs1674313030
NM_020699.4(GATAD2B):c.1441C>T (p.Gln481Ter)
NM_020699.4(GATAD2B):c.1446G>T (p.Gln482His) rs1674312870
NM_020699.4(GATAD2B):c.1537C>T (p.Gln513Ter) rs1553187362
NM_020699.4(GATAD2B):c.155del (p.Lys52fs)
NM_020699.4(GATAD2B):c.1780T>C (p.Ter594Gln) rs1674245097
NM_020699.4(GATAD2B):c.387del (p.Asp130fs) rs756062872
NM_020699.4(GATAD2B):c.420del (p.Arg141fs)
NM_020699.4(GATAD2B):c.597+1G>A rs1570929867
NM_020699.4(GATAD2B):c.598-1G>A rs1674549557
NM_020699.4(GATAD2B):c.614del (p.Asn205fs)
NM_020699.4(GATAD2B):c.676C>T (p.Pro226Ser)
NM_020699.4(GATAD2B):c.91C>T (p.Arg31Ter) rs1570938113
NM_020699.4(GATAD2B):c.980_981del (p.Gly327fs) rs797045594
NM_020771.4(HACE1):c.1443C>A (p.Cys481Ter) rs2114793034
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_021619.3(PRDM12):c.1041CGC[18] (p.Ala354_Ala359dup) rs752427775
NM_021619.3(PRDM12):c.683-1G>A rs2132607877
NM_021619.3(PRDM12):c.742T>G (p.Cys248Gly) rs2132608027
NM_021619.3(PRDM12):c.788G>A (p.Arg263His) rs2132608078
NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs) rs1555350397
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_021971.2(GMPPB):c.[1000G>A];[951+1G>A]
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_021971.4(GMPPB):c.129+1G>T rs2108213393
NM_021971.4(GMPPB):c.130-2A>C
NM_021971.4(GMPPB):c.291_294del (p.Ser98fs)
NM_021971.4(GMPPB):c.65C>T (p.Pro22Leu)
NM_021971.4(GMPPB):c.684dup (p.Met229fs) rs2080427976
NM_021971.4(GMPPB):c.769-2A>G rs2080423660
NM_021971.4(GMPPB):c.827C>T (p.Pro276Leu) rs766298888
NM_021971.4(GMPPB):c.862C>T (p.Arg288Trp)
NM_022167.4(XYLT2):c.1552del (p.Leu518fs) rs1912543391
NM_022167.4(XYLT2):c.1584del (p.Gly529fs)
NM_022167.4(XYLT2):c.1584dup (p.Gly529fs) rs779864368
NM_022455.5(NSD1):c.6542C>T (p.Ser2181Phe) rs2127279367
NM_022787.4(NMNAT1):c.-57+10C>T rs1640875786
NM_022787.4(NMNAT1):c.-57+4A>G rs957312118
NM_022787.4(NMNAT1):c.-57G>T rs1640875002
NM_022787.4(NMNAT1):c.115+1G>A rs779434083
NM_022787.4(NMNAT1):c.115+1G>C
NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg) rs1641789657
NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu) rs372066126
NM_022787.4(NMNAT1):c.238G>A (p.Val80Met) rs1641791811
NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe) rs1641792104
NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala) rs986437232
NM_022787.4(NMNAT1):c.38C>A (p.Ala13Asp) rs1641702737
NM_022787.4(NMNAT1):c.458T>C (p.Leu153Pro) rs1641966303
NM_022787.4(NMNAT1):c.500A>T (p.Asn167Ile) rs1405020783
NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly) rs1641967500
NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser) rs771954272
NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn) rs1641971124
NM_022787.4(NMNAT1):c.717G>T (p.Leu239Phe) rs1641973290
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln) rs747653875
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro) rs1208495291
NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs) rs1558612412
NM_022893.4(BCL11A):c.295del (p.Val99fs) rs1558519119
NM_023110.3(FGFR1):c.1881G>C (p.Arg627Ser) rs1563436265
NM_023110.3(FGFR1):c.1928G>A (p.Gly643Asp) rs876661333
NM_023110.3(FGFR1):c.2074G>A (p.Glu692Lys) rs876661335
NM_023110.3(FGFR1):c.749G>C (p.Arg250Pro) rs121909645
NM_024301.5(FKRP):c.1000G>T (p.Glu334Ter)
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.1016G>C (p.Arg339Pro)
NM_024301.5(FKRP):c.1022G>A (p.Trp341Ter)
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter) rs587780334
NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro) rs753811189
NM_024301.5(FKRP):c.1055G>C (p.Arg352Pro)
NM_024301.5(FKRP):c.1067T>C (p.Ile356Thr)
NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter) rs1060502109
NM_024301.5(FKRP):c.1104C>A (p.Tyr368Ter)
NM_024301.5(FKRP):c.1117_1124del (p.Gly373fs)
NM_024301.5(FKRP):c.1119del (p.Asn374fs) rs1555739041
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1168_1177dup (p.Val393fs)
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu) rs28937904
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter) rs1599939853
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
NM_024301.5(FKRP):c.1336del (p.Leu446fs)
NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr) rs747785577
NM_024301.5(FKRP):c.1364C>T (p.Ala455Val) rs28937903
NM_024301.5(FKRP):c.1385C>T (p.Pro462Leu)
NM_024301.5(FKRP):c.1388A>G (p.Asn463Ser) rs2122636612
NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile) rs2122636612
NM_024301.5(FKRP):c.1389C>A (p.Asn463Lys)
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024301.5(FKRP):c.1432A>G (p.Ile478Val)
NM_024301.5(FKRP):c.1475del (p.Thr492fs) rs1555739333
NM_024301.5(FKRP):c.160C>G (p.Arg54Gly)
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) rs28937905
NM_024301.5(FKRP):c.161G>A (p.Arg54Gln) rs2122609879
NM_024301.5(FKRP):c.170_186dup (p.Val63fs) rs1555738149
NM_024301.5(FKRP):c.206_208del (p.Ser69del) rs2054893955
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter) rs1555738201
NM_024301.5(FKRP):c.230_234dup (p.Val79fs) rs1555738204
NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs) rs1555738245
NM_024301.5(FKRP):c.345_349del (p.Arg116fs) rs1555738311
NM_024301.5(FKRP):c.350C>G (p.Pro117Arg)
NM_024301.5(FKRP):c.352G>T (p.Glu118Ter)
NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer) rs886041004
NM_024301.5(FKRP):c.433_455del (p.Val145fs)
NM_024301.5(FKRP):c.464del (p.Leu155fs) rs1555738456
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg) rs1555738483
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr) rs554813030
NM_024301.5(FKRP):c.511_523del (p.Leu171fs) rs1314297056
NM_024301.5(FKRP):c.526C>G (p.Arg176Gly)
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter) rs1555738502
NM_024301.5(FKRP):c.544del (p.Tyr182fs)
NM_024301.5(FKRP):c.558dup (p.Ala187fs) rs1191737604
NM_024301.5(FKRP):c.566_570dup (p.Cys191fs) rs1555738568
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.587G>T (p.Gly196Val)
NM_024301.5(FKRP):c.632del (p.Ser211fs)
NM_024301.5(FKRP):c.656del (p.Gly219fs) rs1555738651
NM_024301.5(FKRP):c.663C>A (p.Ser221Arg) rs28937902
NM_024301.5(FKRP):c.675del (p.Thr226fs) rs886043706
NM_024301.5(FKRP):c.686del (p.Arg229fs) rs1555738686
NM_024301.5(FKRP):c.688_722del (p.Gly230fs) rs1555738675
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys) rs2122621481
NM_024301.5(FKRP):c.712_713del (p.Leu238fs)
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter) rs1555738753
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter) rs752731569
NM_024301.5(FKRP):c.795_811del (p.Ala267fs)
NM_024301.5(FKRP):c.796del (p.Ala266fs) rs1555738764
NM_024301.5(FKRP):c.859_869del (p.Phe287fs) rs1555738823
NM_024301.5(FKRP):c.863G>T (p.Gly288Val)
NM_024301.5(FKRP):c.883C>G (p.Arg295Gly) rs2054921636
NM_024301.5(FKRP):c.88C>T (p.Gln30Ter)
NM_024301.5(FKRP):c.931G>T (p.Glu311Ter) rs1483781400
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)
NM_024301.5(FKRP):c.935G>C (p.Arg312Pro)
NM_024301.5(FKRP):c.940A>G (p.Thr314Ala)
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala) rs28937901
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.984T>A (p.Tyr328Ter)
NM_024665.7(TBL1XR1):c.1018_1021del (p.Arg340fs) rs1715100386
NM_024665.7(TBL1XR1):c.1048-1G>A rs1576993734
NM_024665.7(TBL1XR1):c.1100G>T (p.Cys367Phe) rs1576993654
NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys) rs1576982808
NM_024665.7(TBL1XR1):c.1387G>A (p.Asp463Asn) rs1560098548
NM_024665.7(TBL1XR1):c.172_173del (p.Gln58fs) rs2108503904
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter) rs1577029680
NM_024665.7(TBL1XR1):c.514G>C (p.Val172Leu) rs1716920045
NM_024665.7(TBL1XR1):c.679G>A (p.Asp227Asn) rs2108490656
NM_024665.7(TBL1XR1):c.689C>T (p.Ser230Phe) rs1553815393
NM_024665.7(TBL1XR1):c.703-2A>G rs1577018466
NM_024665.7(TBL1XR1):c.710G>A (p.Gly237Asp) rs1716484744
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys) rs878854401
NM_024665.7(TBL1XR1):c.864+1G>A
NM_024665.7(TBL1XR1):c.937G>A (p.Asp313Asn)
NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs) rs773120259
NM_025099.6(CTC1):c.131_134del (p.Asp44fs) rs1250113146
NM_025099.6(CTC1):c.1A>C (p.Met1Leu) rs779499831
NM_025099.6(CTC1):c.2176del (p.His726fs)
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.2831dup (p.His945fs) rs199473677
NM_025099.6(CTC1):c.2996dup (p.Pro999_Glu1000insTer) rs1567599993
NM_025099.6(CTC1):c.2T>A (p.Met1Lys) rs1299853886
NM_025099.6(CTC1):c.3221+1G>A rs766644829
NM_025099.6(CTC1):c.798_802del (p.Gln268fs)
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1523-1G>T rs1192112844
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5709+1G>A rs759850328
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) rs1592726020
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs) rs1177923180
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) rs1592671672
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.[3904C>T];[4655AAG[2]]
NM_025114.4(CEP290):c.[4655AAG[2]];[6012-12T>A]
NM_030665.4(RAI1):c.13C>T (p.Arg5Ter) rs2143001434
NM_030665.4(RAI1):c.1677del (p.Ser560fs)
NM_030665.4(RAI1):c.1958_1959del (p.Val653fs) rs2032172594
NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter) rs1598089943
NM_030665.4(RAI1):c.269del (p.Gly90fs)
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
NM_030665.4(RAI1):c.2903C>A (p.Ser968Ter)
NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs)
NM_030665.4(RAI1):c.3534_3547del (p.Asp1179fs)
NM_030665.4(RAI1):c.367dup (p.Ala123fs)
NM_030665.4(RAI1):c.5223del (p.Gly1742fs)
NM_030665.4(RAI1):c.5444_5448del (p.Pro1815fs) rs2143003540
NM_030665.4(RAI1):c.5709+5G>C rs2143006568
NM_030665.4(RAI1):c.629C>G (p.Pro210Arg)
NM_030665.4(RAI1):c.859C>T (p.Gln287Ter) rs2032121558
NM_031263.4(HNRNPK):c.1109-3C>G rs2133020130
NM_031263.4(HNRNPK):c.1109A>G (p.Asp370Gly) rs2133020093
NM_031263.4(HNRNPK):c.1123G>T (p.Gly375Trp) rs1588412390
NM_031263.4(HNRNPK):c.1191+2T>G
NM_031263.4(HNRNPK):c.1282G>A (p.Glu428Lys) rs2133014993
NM_031263.4(HNRNPK):c.140_143delinsATCA (p.Ile47_Leu48delinsAsnGln) rs1588434457
NM_031263.4(HNRNPK):c.203T>G (p.Leu68Arg) rs1588432187
NM_031263.4(HNRNPK):c.213+2dup
NM_031263.4(HNRNPK):c.214-35A>G rs1554700718
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_031263.4(HNRNPK):c.364C>T (p.Gln122Ter) rs2133042086
NM_031263.4(HNRNPK):c.460_461del (p.Leu155fs)
NM_031263.4(HNRNPK):c.511C>T (p.Arg171Ter)
NM_031263.4(HNRNPK):c.517-7_521del
NM_031263.4(HNRNPK):c.575T>G (p.Val192Gly)
NM_031263.4(HNRNPK):c.620_637del (p.Lys207_Leu212del)
NM_031263.4(HNRNPK):c.645+1G>T rs1956915416
NM_031263.4(HNRNPK):c.646-1G>A rs1564062144
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs) rs1562921605
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter) rs1562882049
NM_031443.4(CCM2):c.31-1G>C
NM_031443.4(CCM2):c.31-2A>G rs1554365507
NM_031443.4(CCM2):c.400del (p.Val134fs) rs2128747719
NM_031443.4(CCM2):c.472+1G>C rs745710633
NM_031443.4(CCM2):c.584T>G (p.Leu195Arg) rs1562912426
NM_031443.4(CCM2):c.635T>C (p.Leu212Pro) rs1554377652
NM_031443.4(CCM2):c.638T>C (p.Leu213Pro) rs1583983649
NM_031443.4(CCM2):c.7G>T (p.Glu3Ter) rs1795541254
NM_031443.4(CCM2):c.803+1G>A
NM_031443.4(CCM2):c.915+2T>C
NM_031443.4(CCM2):c.916-1G>T
NM_032237.5(POMK):c.386_387del (p.Leu129fs) rs2130626422
NM_032806.6(POMGNT2):c.1170T>G (p.Tyr390Ter)
NM_032806.6(POMGNT2):c.1555G>T (p.Glu519Ter) rs747691921
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del) rs774277094
NM_033087.4(ALG2):c.1040del (p.Gly347fs) rs387906281
NM_033087.4(ALG2):c.1193T>C (p.Phe398Ser)
NM_033163.5(FGF8):c.157-1G>A rs1554834892
NM_033163.5(FGF8):c.157G>C (p.Val53Leu) rs1554834889
NM_033163.5(FGF8):c.356C>T (p.Thr119Met) rs876661329
NM_033163.5(FGF8):c.385C>T (p.Arg129Ter) rs876661330
NM_033163.5(FGF8):c.444+1G>A rs1490604080
NM_033163.5(FGF8):c.469G>T (p.Val157Phe) rs139565972
NM_033163.5(FGF8):c.617G>A (p.Arg206Gln) rs876661331
NM_052867.4(NALCN):c.1267-924_1434+2024del
NM_052867.4(NALCN):c.2671del (p.Val891fs) rs1594211911
NM_052867.4(NALCN):c.2831dup (p.Thr945fs) rs1594211244
NM_052867.4(NALCN):c.3533T>C (p.Leu1178Pro) rs1594168705
NM_052867.4(NALCN):c.376-2A>G
NM_052867.4(NALCN):c.3808C>T (p.Gln1270Ter) rs2033656475
NM_052867.4(NALCN):c.4355del (p.Leu1452fs) rs2139438975
NM_052867.4(NALCN):c.4755+1G>T rs1158141270
NM_052867.4(NALCN):c.537del (p.Ile178_Trp179insTer) rs1594759803
NM_052867.4(NALCN):c.638del (p.Lys213fs) rs2046702287
NM_052867.4(NALCN):c.946G>A (p.Val316Met) rs1463184766
NM_058004.4(PI4KA):c.2386del (p.Arg796fs) rs1932452329
NM_058004.4(PI4KA):c.4901del (p.Thr1634fs)
NM_058004.4(PI4KA):c.5974C>T (p.Pro1992Ser) rs2147164417
NM_058004.4(PI4KA):c.[1414A>C;355C>T]
NM_058169.6(BORCS5):c.203-1G>T rs1555155556
NM_058179.4(PSAT1):c.122-1G>C rs772958302
NM_058179.4(PSAT1):c.43_60+9del
NM_058179.4(PSAT1):c.570+2_570+15del rs2118643983
NM_058179.4(PSAT1):c.571-1G>A rs1828216198
NM_058179.4(PSAT1):c.740G>C (p.Ser247Thr)
NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter) rs2056119926
NM_080632.3(UPF3B):c.1147G>T (p.Glu383Ter)
NM_080632.3(UPF3B):c.240del (p.Phe80fs)
NM_080632.3(UPF3B):c.270T>G (p.Tyr90Ter)
NM_080632.3(UPF3B):c.646_647del (p.Glu216fs)
NM_080632.3(UPF3B):c.982G>T (p.Glu328Ter) rs376175156
NM_080647.1(TBX1):c.34+2T>A
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn) rs2145836461
NM_130811.4(SNAP25):c.170T>C (p.Leu57Pro) rs2123120184
NM_130811.4(SNAP25):c.508_528dup (p.Arg176_Gln177insGluIleAspThrGlnAsnArg)
NM_130811.4(SNAP25):c.542T>A (p.Ile181Asn)
NM_130811.4(SNAP25):c.553G>C (p.Ala185Pro) rs1600807788
NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter) rs2064355122
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro) rs2064355563
NM_130811.4(SNAP25):c.74C>T (p.Ser25Leu)
NM_133259.4(LRPPRC):c.1082_1083delinsT (p.Cys361fs)
NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter) rs1553410995
NM_133259.4(LRPPRC):c.1092_1095del (p.Glu366fs) rs2103713116
NM_133259.4(LRPPRC):c.1115_1118delinsCTT (p.Phe372fs)
NM_133259.4(LRPPRC):c.1156-2A>C
NM_133259.4(LRPPRC):c.1165A>T (p.Lys389Ter)
NM_133259.4(LRPPRC):c.1165_1198del (p.Lys389fs)
NM_133259.4(LRPPRC):c.1177T>C (p.Tyr393His) rs863224054
NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp) rs863224054
NM_133259.4(LRPPRC):c.1179C>A (p.Tyr393Ter)
NM_133259.4(LRPPRC):c.1195del (p.Glu399fs) rs1553410876
NM_133259.4(LRPPRC):c.1201C>T (p.Gln401Ter) rs1553410866
NM_133259.4(LRPPRC):c.1216_1237dup (p.Cys413fs)
NM_133259.4(LRPPRC):c.1261+2T>C rs1553410852
NM_133259.4(LRPPRC):c.1277T>A (p.Leu426Ter)
NM_133259.4(LRPPRC):c.1369+2T>A
NM_133259.4(LRPPRC):c.1378G>T (p.Glu460Ter)
NM_133259.4(LRPPRC):c.1385del (p.Leu462fs) rs1553408603
NM_133259.4(LRPPRC):c.1389_1393del (p.Lys463fs)
NM_133259.4(LRPPRC):c.149+1G>T
NM_133259.4(LRPPRC):c.1493_1495delinsTTGT (p.Asn498fs)
NM_133259.4(LRPPRC):c.1517_1518insAAAA (p.Met506fs)
NM_133259.4(LRPPRC):c.151G>T (p.Gly51Ter)
NM_133259.4(LRPPRC):c.1544_1548dup (p.Ala517fs)
NM_133259.4(LRPPRC):c.1557dup (p.Asn520fs)
NM_133259.4(LRPPRC):c.1574T>G (p.Leu525Ter)
NM_133259.4(LRPPRC):c.1577C>A (p.Ser526Ter) rs896524026
NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter) rs775735922
NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter) rs1553406772
NM_133259.4(LRPPRC):c.1677+1G>T rs2103624540
NM_133259.4(LRPPRC):c.1695C>G (p.Tyr565Ter) rs1672822541
NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs) rs750343121
NM_133259.4(LRPPRC):c.1735+2T>C
NM_133259.4(LRPPRC):c.1775del (p.Met592fs)
NM_133259.4(LRPPRC):c.1842+2T>A rs1553404194
NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs) rs752914914
NM_133259.4(LRPPRC):c.186_193delinsAAAA (p.Ala63fs)
NM_133259.4(LRPPRC):c.1931T>A (p.Leu644Ter)
NM_133259.4(LRPPRC):c.1944_1947del (p.Ser648fs)
NM_133259.4(LRPPRC):c.1947_1948del (p.Asn650fs)
NM_133259.4(LRPPRC):c.1965+2T>C
NM_133259.4(LRPPRC):c.1966-2A>G
NM_133259.4(LRPPRC):c.1970_1971del (p.Val657fs) rs1553403879
NM_133259.4(LRPPRC):c.1972C>T (p.Gln658Ter)
NM_133259.4(LRPPRC):c.2024dup (p.Asn675fs)
NM_133259.4(LRPPRC):c.205C>T (p.Gln69Ter)
NM_133259.4(LRPPRC):c.2080-1G>C rs1553403596
NM_133259.4(LRPPRC):c.2086C>T (p.Gln696Ter)
NM_133259.4(LRPPRC):c.2119dup (p.Ser707fs)
NM_133259.4(LRPPRC):c.2167C>T (p.Arg723Ter) rs1022152551
NM_133259.4(LRPPRC):c.2211-1G>A
NM_133259.4(LRPPRC):c.2225C>A (p.Ser742Ter)
NM_133259.4(LRPPRC):c.2246_2247insTATAAGAGACAGT (p.Lys750fs)
NM_133259.4(LRPPRC):c.2285del (p.Gly762fs)
NM_133259.4(LRPPRC):c.2296+1G>A rs1553403303
NM_133259.4(LRPPRC):c.2343del (p.Asp783fs)
NM_133259.4(LRPPRC):c.2369dup (p.His791fs) rs2105077651
NM_133259.4(LRPPRC):c.2406_2407del (p.Glu803fs)
NM_133259.4(LRPPRC):c.2441_2444del (p.Thr814fs) rs2105077465
NM_133259.4(LRPPRC):c.2444del (p.Leu815fs)
NM_133259.4(LRPPRC):c.2450T>A (p.Leu817Ter) rs1301842578
NM_133259.4(LRPPRC):c.245del (p.Gln82fs)
NM_133259.4(LRPPRC):c.2488_2489del (p.Thr830fs)
NM_133259.4(LRPPRC):c.2505-1G>T rs1553400727
NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs) rs1553413047
NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs) rs1553400685
NM_133259.4(LRPPRC):c.2559dup (p.Val854fs)
NM_133259.4(LRPPRC):c.2569_2585del (p.Arg857fs)
NM_133259.4(LRPPRC):c.2630-5_2630-2del
NM_133259.4(LRPPRC):c.2632dup (p.Met878fs)
NM_133259.4(LRPPRC):c.2736+1G>T rs1553400391
NM_133259.4(LRPPRC):c.2737-1G>T rs1553398334
NM_133259.4(LRPPRC):c.283C>T (p.Arg95Ter) rs760186575
NM_133259.4(LRPPRC):c.2882T>C (p.Leu961Pro)
NM_133259.4(LRPPRC):c.2889del (p.Lys963fs)
NM_133259.4(LRPPRC):c.2941del (p.Ile981fs)
NM_133259.4(LRPPRC):c.2984T>G (p.Leu995Ter) rs1553396232
NM_133259.4(LRPPRC):c.2986_3001del (p.Leu996fs)
NM_133259.4(LRPPRC):c.2T>A (p.Met1Lys) rs1160846305
NM_133259.4(LRPPRC):c.3003_3006del (p.Glu1002fs) rs1300725076
NM_133259.4(LRPPRC):c.3013del (p.Gln1005fs)
NM_133259.4(LRPPRC):c.3031del (p.Val1011fs)
NM_133259.4(LRPPRC):c.3044G>A (p.Trp1015Ter)
NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter) rs1202515342
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter) rs1558936154
NM_133259.4(LRPPRC):c.3148+1G>T
NM_133259.4(LRPPRC):c.3149-2A>T
NM_133259.4(LRPPRC):c.3151del
NM_133259.4(LRPPRC):c.3156T>A (p.Tyr1052Ter)
NM_133259.4(LRPPRC):c.31_32insATAAGAGACAG (p.Leu11fs)
NM_133259.4(LRPPRC):c.320_321del (p.Lys107fs)
NM_133259.4(LRPPRC):c.3227T>A (p.Leu1076Ter)
NM_133259.4(LRPPRC):c.3248_3249del (p.Phe1083fs)
NM_133259.4(LRPPRC):c.3254_3255del (p.Gln1085fs)
NM_133259.4(LRPPRC):c.3261_3262del (p.Met1087fs)
NM_133259.4(LRPPRC):c.3286del (p.His1096fs) rs797044605
NM_133259.4(LRPPRC):c.3313dup (p.Ala1105fs)
NM_133259.4(LRPPRC):c.346+1G>T
NM_133259.4(LRPPRC):c.3465_3466delinsA (p.Glu1156fs)
NM_133259.4(LRPPRC):c.3563_3566del (p.Ile1188fs)
NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs) rs762254417
NM_133259.4(LRPPRC):c.3645C>G (p.Tyr1215Ter)
NM_133259.4(LRPPRC):c.3673_3676del (p.Lys1224_Val1225insTer) rs1553391303
NM_133259.4(LRPPRC):c.3691G>T (p.Glu1231Ter)
NM_133259.4(LRPPRC):c.3697_3701delinsCAAG (p.Ala1233fs)
NM_133259.4(LRPPRC):c.3737_3740del (p.Asn1246fs)
NM_133259.4(LRPPRC):c.376_377insAAATTATTTTTTGAATACG (p.Leu126delinsGlnIleIlePheTer)
NM_133259.4(LRPPRC):c.3773dup (p.Leu1259fs) rs761052211
NM_133259.4(LRPPRC):c.3774_3775insTCGTATGCCGT (p.Leu1259fs)
NM_133259.4(LRPPRC):c.3778_3779del (p.Gln1260fs)
NM_133259.4(LRPPRC):c.3778_3780delinsT (p.Gln1260fs)
NM_133259.4(LRPPRC):c.3787del (p.Asp1263fs)
NM_133259.4(LRPPRC):c.3826-1G>A
NM_133259.4(LRPPRC):c.3928_3938del (p.Leu1310fs)
NM_133259.4(LRPPRC):c.392del (p.Gly131fs)
NM_133259.4(LRPPRC):c.3941T>G (p.Leu1314Ter)
NM_133259.4(LRPPRC):c.3957del (p.Ala1320fs)
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter) rs863224052
NM_133259.4(LRPPRC):c.3979_3981delinsGG (p.Ser1327fs)
NM_133259.4(LRPPRC):c.3979del (p.Ser1327fs)
NM_133259.4(LRPPRC):c.3985+1811_4077delinsA
NM_133259.4(LRPPRC):c.3G>A (p.Met1Ile) rs1553416989
NM_133259.4(LRPPRC):c.406_407del (p.Glu136fs)
NM_133259.4(LRPPRC):c.4114_4115insAT (p.Phe1372fs)
NM_133259.4(LRPPRC):c.4128+2T>G rs1553388067
NM_133259.4(LRPPRC):c.451del (p.Asp151fs)
NM_133259.4(LRPPRC):c.456_457del (p.Leu153fs)
NM_133259.4(LRPPRC):c.469+1G>A rs1060499785
NM_133259.4(LRPPRC):c.495T>G (p.Tyr165Ter)
NM_133259.4(LRPPRC):c.503T>A (p.Leu168Ter)
NM_133259.4(LRPPRC):c.508A>T (p.Lys170Ter)
NM_133259.4(LRPPRC):c.509_510insGATGTGTATAAGAGAC (p.Val171fs)
NM_133259.4(LRPPRC):c.516T>A (p.Tyr172Ter)
NM_133259.4(LRPPRC):c.531T>A (p.Tyr177Ter)
NM_133259.4(LRPPRC):c.532A>T (p.Lys178Ter)
NM_133259.4(LRPPRC):c.54_57delinsTCG (p.Leu20fs)
NM_133259.4(LRPPRC):c.580del (p.Gln194fs)
NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter) rs989113962
NM_133259.4(LRPPRC):c.600C>A (p.Tyr200Ter) rs1553411751
NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter) rs1553411748
NM_133259.4(LRPPRC):c.650+1G>A
NM_133259.4(LRPPRC):c.650+1del
NM_133259.4(LRPPRC):c.738-1G>A
NM_133259.4(LRPPRC):c.738-2A>C
NM_133259.4(LRPPRC):c.811del (p.Leu271fs)
NM_133259.4(LRPPRC):c.883A>T (p.Lys295Ter)
NM_133259.4(LRPPRC):c.898_899delinsAGATGTGTATAAGAGACAG (p.Leu300delinsArgCysValTer)
NM_133259.4(LRPPRC):c.92del (p.Pro31fs)
NM_133259.4(LRPPRC):c.93_94delinsAGCA (p.Gly32fs)
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs) rs727504825
NM_133378.4(TTN):c.[38532C>A];[52301A>G]
NM_133378.4(TTN):c.[98049dupA];[99250C>T]
NM_133379.5(TTN):c.16452del (p.Lys5484_Val5485insTer)
NM_133642.5(LARGE1):c.1033_1034dup (p.Asn345fs) rs1569112355
NM_133642.5(LARGE1):c.1132-2A>G
NM_133642.5(LARGE1):c.1287+1G>A
NM_133642.5(LARGE1):c.1287+1G>C
NM_133642.5(LARGE1):c.1730+1G>A rs898695674
NM_133642.5(LARGE1):c.483del (p.Phe162fs)
NM_133642.5(LARGE1):c.788-2A>G
NM_133642.5(LARGE1):c.788-5_826del rs2147722687
NM_138459.5(NUS1):c.616G>T (p.Asp206Tyr)
NM_139058.3(ARX):c.1121T>A (p.Val374Asp) rs587783183
NM_139058.3(ARX):c.1134C>A (p.Asn378Lys) rs587783184
NM_139058.3(ARX):c.1206del (p.Pro403fs) rs2147320576
NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup) rs1556056131
NM_139058.3(ARX):c.821dup (p.Ala275fs)
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593
NM_139058.3(ARX):c.994C>T (p.Arg332Cys) rs2147323593
NM_139343.3(BIN1):c.1002+2T>C rs1553458019
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.461G>A (p.Arg154Gln) rs267606681
NM_144643.4(SCLT1):c.2060dup (p.Asn687fs)
NM_145064.3(STAC3):c.670+2T>A
NM_145178.4(ATOH7):c.154C>G (p.Arg52Gly)
NM_145200.5(CABP4):c.625C>T (p.Arg209Ter) rs779788706
NM_152263.4(TPM3):c.118-12G>A
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)
NM_152263.4(TPM3):c.243+1G>A
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly) rs1571418855
NM_152263.4(TPM3):c.272G>A (p.Arg91His)
NM_152263.4(TPM3):c.298C>G (p.Leu100Val) rs121964853
NM_152263.4(TPM3):c.377+863_775+422del
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn) rs1553251644
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152263.4(TPM3):c.44A>T (p.Asp15Val) rs2148295444
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)
NM_152263.4(TPM3):c.642+2T>C
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln) rs1571456678
NM_152393.4(KLHL40):c.1152+1G>A
NM_152393.4(KLHL40):c.1152+2T>A rs1575219191
NM_152393.4(KLHL40):c.1153-2A>T rs752493018
NM_152393.4(KLHL40):c.1305C>A (p.Tyr435Ter)
NM_152393.4(KLHL40):c.1350C>A (p.Tyr450Ter) rs1486566170
NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys) rs367579275
NM_152393.4(KLHL40):c.1489C>T (p.Gln497Ter) rs1697319878
NM_152393.4(KLHL40):c.1607+1G>T rs2125845625
NM_152393.4(KLHL40):c.176G>C (p.Arg59Pro) rs778303947
NM_152393.4(KLHL40):c.25G>T (p.Glu9Ter) rs1575218072
NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter) rs768335581
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033
NM_152443.3(RDH12):c.125T>C (p.Val42Ala) rs1594865036
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys) rs28940314
NM_152443.3(RDH12):c.149G>A (p.Gly50Asp) rs1594865064
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) rs104894473
NM_152443.3(RDH12):c.157_187+178del rs1594865068
NM_152443.3(RDH12):c.164C>A (p.Thr55Lys)
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.178G>C (p.Ala60Pro) rs749038454
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu) rs778481181
NM_152443.3(RDH12):c.187+1G>C
NM_152443.3(RDH12):c.188-1G>A rs2140142183
NM_152443.3(RDH12):c.188-2A>G
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) rs1594865341
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) rs368489658
NM_152443.3(RDH12):c.238G>C (p.Ala80Pro) rs1032626668
NM_152443.3(RDH12):c.325G>C (p.Ala109Pro) rs1594865434
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu) rs202126574
NM_152443.3(RDH12):c.449-1G>A rs2140145142
NM_152443.3(RDH12):c.449-2A>G rs2140145138
NM_152443.3(RDH12):c.488del (p.Lys163fs) rs2038193754
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly) rs761167763
NM_152443.3(RDH12):c.51_52dup (p.Val18fs)
NM_152443.3(RDH12):c.559G>A (p.Asp187Asn)
NM_152443.3(RDH12):c.580dup (p.Tyr194fs) rs2140145502
NM_152443.3(RDH12):c.617C>A (p.Ala206Asp)
NM_152443.3(RDH12):c.617C>T (p.Ala206Val)
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_152443.3(RDH12):c.648_658+20del rs878853341
NM_152443.3(RDH12):c.659-1G>A
NM_152443.3(RDH12):c.659-2A>C rs2038231425
NM_152443.3(RDH12):c.659-2A>T rs2038231425
NM_152443.3(RDH12):c.667G>T (p.Val223Phe) rs370015375
NM_152443.3(RDH12):c.69-1G>A rs373279009
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu) rs2038232911
NM_152443.3(RDH12):c.69del
NM_152443.3(RDH12):c.715C>T (p.Arg239Trp) rs751589863
NM_152443.3(RDH12):c.716G>A (p.Arg239Gln) rs1239043055
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
NM_152443.3(RDH12):c.779dup (p.Ala262fs)
NM_152443.3(RDH12):c.787_788dup (p.Gln263fs)
NM_152443.3(RDH12):c.804del (p.Cys268fs)
NM_152443.3(RDH12):c.805G>C (p.Ala269Pro) rs767385752
NM_152443.3(RDH12):c.812_813del (p.Ala271fs) rs2140151036
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.912G>A (p.Trp304Ter) rs2038317129
NM_152443.3(RDH12):c.932T>C (p.Leu311Pro) rs769546135
NM_152490.4(B3GALNT2):c.[1438_1455dup18];[979G>A]
NM_152490.5(B3GALNT2):c.113-1G>C rs2102863392
NM_152490.5(B3GALNT2):c.1311+1G>A rs1379052702
NM_152490.5(B3GALNT2):c.1338G>A (p.Trp446Ter) rs2102780481
NM_152490.5(B3GALNT2):c.1418CTC[1] (p.Pro474del) rs752758430
NM_152490.5(B3GALNT2):c.362-1G>C rs2102844404
NM_152490.5(B3GALNT2):c.652-2A>G rs1553347936
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) rs367543073
NM_152490.5(B3GALNT2):c.779T>A (p.Leu260Ter)
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.841+1G>T
NM_152490.5(B3GALNT2):c.842-1G>C rs764784497
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro) rs367543076
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) rs1057516324
NM_152564.5(VPS13B):c.10062-2A>G rs1554581156
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter) rs1554625617
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter) rs1057516437
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter) rs1554625632
NM_152564.5(VPS13B):c.10282C>T (p.Gln3428Ter)
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs) rs1563509743
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs) rs1554581430
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.1040del (p.Ser347fs) rs1057516971
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.10555_10556del (p.Leu3519fs) rs1554581632
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs) rs1554581676
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs) rs1057517137
NM_152564.5(VPS13B):c.10675A>T (p.Lys3559Ter)
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs) rs1554625693
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) rs1057520769
NM_152564.5(VPS13B):c.10766_10769del (p.Leu3589fs) rs386834056
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del) rs1554581821
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs) rs1057516274
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs) rs1554561356
NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle)
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.10867+1G>T rs780902262
NM_152564.5(VPS13B):c.10868-2A>C rs745404712
NM_152564.5(VPS13B):c.10868-2A>G
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
NM_152564.5(VPS13B):c.11044+1G>A
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs) rs1057517202
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs) rs1057517376
NM_152564.5(VPS13B):c.11181_11215+10del
NM_152564.5(VPS13B):c.11216-1G>A rs1057517441
NM_152564.5(VPS13B):c.11216-2A>G rs867112705
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) rs1057516245
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs) rs1554586972
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs) rs1554586994
NM_152564.5(VPS13B):c.11392+1G>T rs1554587021
NM_152564.5(VPS13B):c.11393-1G>A rs747363890
NM_152564.5(VPS13B):c.11393-1G>C
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs) rs386834062
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs) rs1057516284
NM_152564.5(VPS13B):c.11481dup (p.Val3828fs) rs386834063
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
NM_152564.5(VPS13B):c.11495+1G>A
NM_152564.5(VPS13B):c.11496-2A>G rs1554588353
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.11523del (p.Glu3842fs) rs386834065
NM_152564.5(VPS13B):c.11575del (p.His3859fs) rs1057516651
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs) rs1057517438
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter) rs1057517385
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs) rs1554588477
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs) rs1554588489
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_11709delinsAA (p.Thr3902_Val3903delinsLys) rs386834067
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs) rs1554590314
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) rs1371736348
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.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.1187del (p.Lys396fs) rs1554625872
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs) rs1057517328
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_152564.5(VPS13B):c.1269_1273del (p.Cys425fs) rs386834072
NM_152564.5(VPS13B):c.1275T>A (p.Cys425Ter)
NM_152564.5(VPS13B):c.1303-1G>C rs1554634091
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) rs1408744761
NM_152564.5(VPS13B):c.148-2A>G rs768406797
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs) rs1057517319
NM_152564.5(VPS13B):c.1563+1G>A rs1057516923
NM_152564.5(VPS13B):c.1563+1G>T rs1057516923
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.1564G>T (p.Glu522Ter)
NM_152564.5(VPS13B):c.1652-2A>T rs2132580903
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) rs1057517177
NM_152564.5(VPS13B):c.1669del (p.Asp557fs) rs1057517283
NM_152564.5(VPS13B):c.1843+1G>A
NM_152564.5(VPS13B):c.1844-2A>G rs386834073
NM_152564.5(VPS13B):c.1944T>A (p.Cys648Ter)
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs) rs1057517338
NM_152564.5(VPS13B):c.2013+2341_2166del
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.2178_2200del (p.His727fs) rs2132624625
NM_152564.5(VPS13B):c.219_220delinsT (p.Lys73fs) rs386834075
NM_152564.5(VPS13B):c.2209-2A>G
NM_152564.5(VPS13B):c.2221C>T (p.Gln741Ter)
NM_152564.5(VPS13B):c.2268del (p.Val757fs) rs1057516532
NM_152564.5(VPS13B):c.22_23delinsA (p.Pro8fs) rs386834076
NM_152564.5(VPS13B):c.2333+1G>T rs1812243683
NM_152564.5(VPS13B):c.2333+2T>C rs1554652265
NM_152564.5(VPS13B):c.2334-2A>G rs1554665974
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter) rs1057516681
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter) rs1554666009
NM_152564.5(VPS13B):c.2516-2A>G rs1554706114
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs) rs1554706149
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.2650+1G>A rs1554706285
NM_152564.5(VPS13B):c.2651-1G>A rs386834077
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs) rs1554706662
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs) rs1057517255
NM_152564.5(VPS13B):c.2824+2T>G rs141703746
NM_152564.5(VPS13B):c.2828del (p.Ala943fs) rs1554765140
NM_152564.5(VPS13B):c.2855del (p.Leu952fs) rs1554765173
NM_152564.5(VPS13B):c.2889del (p.Trp963fs) rs1563700124
NM_152564.5(VPS13B):c.2908A>T (p.Lys970Ter)
NM_152564.5(VPS13B):c.291+1G>A rs1057516857
NM_152564.5(VPS13B):c.291+2T>A
NM_152564.5(VPS13B):c.292-2A>G rs386834079
NM_152564.5(VPS13B):c.292-7A>G rs1554612610
NM_152564.5(VPS13B):c.2934+1G>T rs775729058
NM_152564.5(VPS13B):c.2934+1_2934+2del rs180177358
NM_152564.5(VPS13B):c.2934+2T>A
NM_152564.5(VPS13B):c.2935-1G>A rs2133312466
NM_152564.5(VPS13B):c.2980A>T (p.Lys994Ter)
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs) rs1554767735
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs) rs1057516834
NM_152564.5(VPS13B):c.3082+1G>A
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs) rs1554788238
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs) rs1057516926
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs) rs1057517447
NM_152564.5(VPS13B):c.3154A>T (p.Arg1052Ter)
NM_152564.5(VPS13B):c.3160A>T (p.Lys1054Ter)
NM_152564.5(VPS13B):c.3172G>T (p.Gly1058Ter)
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3309G>A (p.Trp1103Ter)
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs) rs1554793521
NM_152564.5(VPS13B):c.3439G>T (p.Glu1147Ter)
NM_152564.5(VPS13B):c.3445+1G>T rs1034855385
NM_152564.5(VPS13B):c.3445+2T>A
NM_152564.5(VPS13B):c.3446-1G>A
NM_152564.5(VPS13B):c.3446-382_3463del rs1588410519
NM_152564.5(VPS13B):c.3618T>A (p.Cys1206Ter) rs386834081
NM_152564.5(VPS13B):c.3666+1G>T rs1554807146
NM_152564.5(VPS13B):c.3666+2T>A rs386834082
NM_152564.5(VPS13B):c.3666+2T>C rs386834082
NM_152564.5(VPS13B):c.3667-1G>A rs750609612
NM_152564.5(VPS13B):c.3681T>A (p.Tyr1227Ter) rs1554814266
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs) rs1554814271
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter) rs1057516422
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs) rs753645306
NM_152564.5(VPS13B):c.3870+1G>A rs764225649
NM_152564.5(VPS13B):c.3870+1G>T rs764225649
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs) rs1057516653
NM_152564.5(VPS13B):c.4042+2T>C rs1554822819
NM_152564.5(VPS13B):c.404dup (p.Leu135fs) rs386834083
NM_152564.5(VPS13B):c.4119T>A (p.Cys1373Ter)
NM_152564.5(VPS13B):c.412+1G>A rs1057517295
NM_152564.5(VPS13B):c.412+1G>C rs1057517295
NM_152564.5(VPS13B):c.412+2T>C
NM_152564.5(VPS13B):c.4157+2T>G
NM_152564.5(VPS13B):c.4225-1G>A rs2133637043
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) rs1057517076
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) rs386834084
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs) rs2133637251
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
NM_152564.5(VPS13B):c.4319T>A (p.Leu1440Ter)
NM_152564.5(VPS13B):c.4321dup (p.Thr1441fs) rs386834085
NM_152564.5(VPS13B):c.4399del (p.Ile1467fs) rs386834087
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del) rs386834088
NM_152564.5(VPS13B):c.4445T>A (p.Leu1482Ter)
NM_152564.5(VPS13B):c.4471C>T (p.Gln1491Ter)
NM_152564.5(VPS13B):c.4497dup (p.Glu1500fs) rs386834089
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs) rs1554826566
NM_152564.5(VPS13B):c.4556T>A (p.Leu1519Ter)
NM_152564.5(VPS13B):c.4633+1G>A
NM_152564.5(VPS13B):c.4634-2A>G rs2133668102
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.4746-1G>T rs768342041
NM_152564.5(VPS13B):c.4746-2A>T rs1554843814
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter) rs180177359
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter) rs1588491546
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4867A>T (p.Lys1623Ter)
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs) rs1554843942
NM_152564.5(VPS13B):c.4950-1G>C rs1554852945
NM_152564.5(VPS13B):c.4950-2A>G
NM_152564.5(VPS13B):c.5076+1G>C
NM_152564.5(VPS13B):c.5076+1G>T
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del) rs180177362
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs) rs2133812056
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs) rs1554853676
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter) rs1554884575
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter) rs386834094
NM_152564.5(VPS13B):c.5350dup (p.Glu1784fs) rs1829386213
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs) rs180177364
NM_152564.5(VPS13B):c.5538_5539insT (p.Lys1847Ter) rs1554884838
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer) rs1554884932
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) rs386834096
NM_152564.5(VPS13B):c.5675del (p.Ser1892fs) rs386834097
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.580+1G>A rs1846848656
NM_152564.5(VPS13B):c.580+1G>T rs1846848656
NM_152564.5(VPS13B):c.580+2T>C
NM_152564.5(VPS13B):c.581-1G>A
NM_152564.5(VPS13B):c.5829T>A (p.Cys1943Ter)
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5909-1G>T rs1057516694
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_152564.5(VPS13B):c.6046+1G>T rs750003804
NM_152564.5(VPS13B):c.6047-1G>A rs750092574
NM_152564.5(VPS13B):c.6047-5_6047del rs1057516841
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs) rs1554911430
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs) rs1554911481
NM_152564.5(VPS13B):c.626_627del (p.Thr209fs) rs386834100
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter) rs1057516331
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter) rs1057516489
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) rs1057516287
NM_152564.5(VPS13B):c.6345_6346del (p.Gln2115fs) rs386834101
NM_152564.5(VPS13B):c.6454+1G>C rs1235993153
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter) rs1057516494
NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter)
NM_152564.5(VPS13B):c.6505A>T (p.Lys2169Ter)
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs) rs1057517318
NM_152564.5(VPS13B):c.6552T>A (p.Cys2184Ter)
NM_152564.5(VPS13B):c.6612del (p.Gln2204fs) rs386834102
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter) rs1057516663
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6658-2A>G rs386834103
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs) rs1057516302
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs) rs1554924412
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) rs767858119
NM_152564.5(VPS13B):c.7050+1G>T rs1057516840
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs) rs386834105
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter)
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter) rs1057516660
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7247+2043_7403del
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.7248-1G>C rs763079458
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) rs1554952465
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs) rs1554952467
NM_152564.5(VPS13B):c.7317T>A (p.Cys2439Ter)
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) rs1811766430
NM_152564.5(VPS13B):c.7396del (p.His2466fs) rs1554952554
NM_152564.5(VPS13B):c.7429+2T>C rs1057517393
NM_152564.5(VPS13B):c.7480G>T (p.Glu2494Ter)
NM_152564.5(VPS13B):c.7525C>G (p.Leu2509Val) rs1811867338
NM_152564.5(VPS13B):c.7535G>A (p.Trp2512Ter) rs386834108
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter) rs910393433
NM_152564.5(VPS13B):c.762+1G>A
NM_152564.5(VPS13B):c.762+2T>C rs1588048848
NM_152564.5(VPS13B):c.763-1G>T
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter) rs2130679206
NM_152564.5(VPS13B):c.7779+1G>C
NM_152564.5(VPS13B):c.7779+1G>T
NM_152564.5(VPS13B):c.7861del (p.Gln2621fs) rs386834109
NM_152564.5(VPS13B):c.7941+1G>A rs1554955952
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) rs1554622608
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs) rs1554560668
NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter)
NM_152564.5(VPS13B):c.803del (p.Asp268fs) rs1554622622
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg) rs1587912461
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs) rs1554565537
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs) rs1554565558
NM_152564.5(VPS13B):c.8266del (p.Glu2755_Leu2756insTer) rs386834111
NM_152564.5(VPS13B):c.8361+1G>A rs542757501
NM_152564.5(VPS13B):c.8362-1G>C
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) rs1057516484
NM_152564.5(VPS13B):c.8445+1G>C
NM_152564.5(VPS13B):c.8445+2T>C rs1554566396
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8536del (p.Thr2846fs) rs386834114
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs) rs765302278
NM_152564.5(VPS13B):c.8621+2T>G rs1057517236
NM_152564.5(VPS13B):c.8622-2A>G rs386834115
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter) rs747644844
NM_152564.5(VPS13B):c.8793-2A>G
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs) rs1057516845
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer) rs1554622718
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter) rs1057516558
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs) rs1057516276
NM_152564.5(VPS13B):c.8995-1G>A
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.916_917del (p.Asp306fs) rs386834117
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs) rs1057516789
NM_152564.5(VPS13B):c.9183+1G>A rs2130822351
NM_152564.5(VPS13B):c.9183+2T>G
NM_152564.5(VPS13B):c.9184-1G>A
NM_152564.5(VPS13B):c.9184-2A>G
NM_152564.5(VPS13B):c.9184-2_9184del rs1057516807
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9261_9267del (p.Asn3088fs)
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) rs773945333
NM_152564.5(VPS13B):c.9330+1G>A
NM_152564.5(VPS13B):c.9330+1G>C rs756013171
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.937+1G>A
NM_152564.5(VPS13B):c.938-1G>C rs2132515671
NM_152564.5(VPS13B):c.9394A>T (p.Lys3132Ter)
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs) rs1554574028
NM_152564.5(VPS13B):c.9614+1G>T rs1057517168
NM_152564.5(VPS13B):c.9615-2A>C rs386834120
NM_152564.5(VPS13B):c.9615-2A>G rs386834120
NM_152564.5(VPS13B):c.9631del (p.Tyr3211fs) rs386834121
NM_152564.5(VPS13B):c.9656del (p.Tyr3219fs) rs386834122
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) rs941969577
NM_152564.5(VPS13B):c.9701del (p.Asn3234fs) rs2130865566
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.9739A>T (p.Lys3247Ter)
NM_152564.5(VPS13B):c.9742+1G>A
NM_152564.5(VPS13B):c.9742+1G>T rs759374475
NM_152564.5(VPS13B):c.9742+2T>C rs1434569440
NM_152564.5(VPS13B):c.9743-2A>C rs1815345770
NM_152564.5(VPS13B):c.9743-5_9744del
NM_152564.5(VPS13B):c.9756del (p.Phe3252fs) rs768801125
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs) rs774357106
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs) rs1057516568
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs) rs1057516614
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs) rs1554575679
NM_152564.5(VPS13B):c.9934_9942+5del rs1554575693
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) rs1301330402
NM_152564.5(VPS13B):c.9942+1G>A rs1057517063
NM_152564.5(VPS13B):c.9942+1G>T rs1057517063
NM_153033.5(KCTD7):c.145-2A>G rs1554397774
NM_153033.5(KCTD7):c.207_214del (p.Cys71fs)
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp) rs867319899
NM_153033.5(KCTD7):c.294C>T (p.Asp98=)
NM_153033.5(KCTD7):c.314+1G>A rs1554397834
NM_153033.5(KCTD7):c.458G>C (p.Arg153Pro) rs765235486
NM_153033.5(KCTD7):c.493+2_493+6del rs2116774137
NM_153033.5(KCTD7):c.520G>A (p.Ala174Thr)
NM_153033.5(KCTD7):c.685G>T (p.Asp229Tyr) rs2116775490
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg) rs200415747
NM_153682.3(PIGP):c.384del (p.Glu129fs) rs778481061
NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3]) rs1554558365
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala) rs745692004
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter) rs1784370895
NM_153816.6(SNX14):c.1725del (p.Phe575fs) rs1311909367
NM_153816.6(SNX14):c.2746-2A>G
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) rs1562374476
NM_153816.6(SNX14):c.44_45del (p.Arg15fs)
NM_153816.6(SNX14):c.462-589A>G
NM_170707.4(LMNA):c.130G>T (p.Val44Phe) rs1057518971
NM_170707.4(LMNA):c.1381-2A>G rs267607600
NM_170707.4(LMNA):c.139G>A (p.Asp47Asn) rs267607608
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs) rs2102898301
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys) rs2102817952
NM_170707.4(LMNA):c.470delinsGCTGGA (p.Thr157fs)
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu) rs1553261858
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.80C>T (p.Thr27Ile) rs863225270
NM_170707.4(LMNA):c.822del (p.Arg275fs) rs2102883169
NM_170707.4(LMNA):c.91_93del (p.Glu31del) rs864309525
NM_170707.4(LMNA):c.937-22_937-10del rs886043199
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) rs1553261891
NM_173660.4(DOK7):c.[1263delC];[1263dupC]
NM_173660.5(DOK7):c.1166_1169del (p.Leu389fs) rs1728633687
NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter) rs544278158
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) rs797045040
NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)
NM_173660.5(DOK7):c.332-1G>A rs1490214819
NM_173660.5(DOK7):c.332-1G>C
NM_173660.5(DOK7):c.332-1G>T rs1490214819
NM_173660.5(DOK7):c.332-2A>G
NM_173660.5(DOK7):c.396C>G (p.His132Gln) rs779798129
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
NM_173660.5(DOK7):c.415G>C (p.Val139Leu) rs571769859
NM_173660.5(DOK7):c.439del (p.Ala147fs) rs1577153029
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
NM_173660.5(DOK7):c.533-159_641del rs2109369117
NM_173660.5(DOK7):c.533-2A>G
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) rs1553847993
NM_173660.5(DOK7):c.652+1dup rs1727731607
NM_173660.5(DOK7):c.718del (p.Gln240fs) rs2109388978
NM_173660.5(DOK7):c.773-1G>C
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884
NM_174916.3(UBR1):c.1539+2T>G rs2033511910
NM_174916.3(UBR1):c.1912-6T>G rs1131691523
NM_174916.3(UBR1):c.4745del (p.Asn1582fs)
NM_174916.3(UBR1):c.529-13G>A rs1265375100
NM_177402.5(SYT2):c.207del (p.Val70fs)
NM_178012.5(TUBB2B):c.1070C>T (p.Pro357Leu) rs1581525728
NM_178012.5(TUBB2B):c.1139G>A (p.Arg380His)
NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu) rs587784498
NM_178012.5(TUBB2B):c.1162A>C (p.Met388Leu) rs2113818913
NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys) rs398122369
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg) rs797046075
NM_178012.5(TUBB2B):c.298A>T (p.Asn100Tyr) rs1757279879
NM_178012.5(TUBB2B):c.33G>C (p.Gln11His) rs1135401758
NM_178012.5(TUBB2B):c.515C>T (p.Ser172Leu) rs1554126925
NM_178012.5(TUBB2B):c.518C>G (p.Pro173Arg) rs2113819240
NM_178012.5(TUBB2B):c.602G>T (p.Cys201Phe) rs201922441
NM_178012.5(TUBB2B):c.611A>T (p.Asn204Ile) rs1757276859
NM_178012.5(TUBB2B):c.632G>A (p.Cys211Tyr)
NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys) rs1554126886
NM_178012.5(TUBB2B):c.908G>A (p.Cys303Tyr) rs2113819019
NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe) rs587784502
NM_178014.4(TUBB):c.860C>T (p.Pro287Leu) rs1554202416
NM_178138.6(LHX3):c.280C>T (p.Gln94Ter) rs2131034777
NM_178138.6(LHX3):c.581C>G (p.Thr194Arg) rs2131032901
NM_178138.6(LHX3):c.607-3_630del rs969810391
NM_181714.4(LCA5):c.1569_1582del (p.His523fs)
NM_181783.4(TMTC3):c.1554del (p.Lys518fs) rs746894544
NM_181783.4(TMTC3):c.199C>G (p.His67Asp) rs754200057
NM_181783.4(TMTC3):c.795dup (p.Arg266fs)
NM_182706.5(SCRIB):c.1177C>T (p.Gln393Ter) rs2130127564
NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer) rs2108622234
NM_183381.3(RNF13):c.919G>T (p.Glu307Ter)
NM_194277.3(FRMD7):c.1050+1G>C rs1927753913
NM_194277.3(FRMD7):c.832T>C (p.Phe278Leu)
NM_194277.3(FRMD7):c.886G>T (p.Gly296Cys)
NM_194454.3(KRIT1):c.1400C>T (p.Ser467Leu) rs1554513911
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter) rs2131435199
NM_194454.3(KRIT1):c.1564-2A>T
NM_194454.3(KRIT1):c.1574del (p.Pro525fs) rs1584807148
NM_194454.3(KRIT1):c.1721_1730+5del
NM_194454.3(KRIT1):c.1730+3A>C rs1563244629
NM_194454.3(KRIT1):c.1818+1G>A rs2131315805
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter) rs1563240592
NM_194454.3(KRIT1):c.1959_1960insC (p.Lys654fs) rs2131307878
NM_194454.3(KRIT1):c.1A>G (p.Met1Val) rs1554539120
NM_194454.3(KRIT1):c.2134del (p.Thr712fs) rs2131087593
NM_194454.3(KRIT1):c.2142+1G>C rs1790081665
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly) rs137853139
NM_194454.3(KRIT1):c.486-1G>T
NM_194454.3(KRIT1):c.729+5G>C rs1468613071
NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter) rs886039659
NM_194454.3(KRIT1):c.813G>A (p.Trp271Ter)
NM_194454.3(KRIT1):c.896del (p.Gly299fs) rs1563301954
NM_194454.3(KRIT1):c.981T>G (p.Tyr327Ter)
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) rs727502799
NM_198271.5(LMOD3):c.1418C>A (p.Ser473Ter)
NM_198271.5(LMOD3):c.23C>G (p.Ser8Ter) rs2092413018
NM_198271.5(LMOD3):c.366del (p.Lys122fs) rs1368453406
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs) rs769824247
NM_198576.4(AGRN):c.1177+4_1177+50del rs765679438
NM_198576.4(AGRN):c.1798+1G>T
NM_198576.4(AGRN):c.1799-1G>A
NM_198576.4(AGRN):c.226G>A (p.Gly76Ser) rs756623659
NM_198576.4(AGRN):c.2371+1G>T
NM_198576.4(AGRN):c.3632-1G>C
NM_198576.4(AGRN):c.3632-2del
NM_198576.4(AGRN):c.464-2A>G
NM_198576.4(AGRN):c.4745-47_4753del rs1570242061
NM_198576.4(AGRN):c.4922dup (p.Asn1641fs) rs2100682020
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe) rs587777298
NM_198576.4(AGRN):c.5254-1_5261del
NM_198576.4(AGRN):c.5276T>C (p.Leu1759Pro) rs1557721600
NM_198576.4(AGRN):c.5876+1G>A rs532386334
NM_198576.4(AGRN):c.667dup (p.Leu223fs) rs1644909838
NM_198576.4(AGRN):c.952+1_952+3del
NM_198721.4(COL25A1):c.672+1del rs2125927453
NM_201253.3(CRB1):c.1003C>T (p.Gln335Ter)
NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr) rs886039871
NM_201253.3(CRB1):c.1055_1063del (p.Gly352_Cys354del)
NM_201253.3(CRB1):c.1078G>T (p.Glu360Ter)
NM_201253.3(CRB1):c.112del (p.Ser38fs) rs62645750
NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter) rs1660516364
NM_201253.3(CRB1):c.1147T>C (p.Cys383Arg) rs1571897130
NM_201253.3(CRB1):c.1147T>G (p.Cys383Gly)
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.1171+1G>A
NM_201253.3(CRB1):c.1172-1G>T rs2125468776
NM_201253.3(CRB1):c.1172-2A>G rs2125468772
NM_201253.3(CRB1):c.1181G>T (p.Cys394Phe)
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1219C>T (p.Gln407Ter)
NM_201253.3(CRB1):c.1268del (p.Cys423fs)
NM_201253.3(CRB1):c.1275del (p.Phe425fs)
NM_201253.3(CRB1):c.1312T>A (p.Cys438Ser)
NM_201253.3(CRB1):c.132dup (p.Cys45fs) rs2125303667
NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser) rs1664290387
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg) rs1664290387
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)
NM_201253.3(CRB1):c.1426del (p.Thr476fs)
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473
NM_201253.3(CRB1):c.1430G>T (p.Gly477Val) rs1277758473
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro) rs963201816
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del) rs780580887
NM_201253.3(CRB1):c.1499C>G (p.Ser500Ter)
NM_201253.3(CRB1):c.1600A>G (p.Lys534Glu) rs2125470125
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro) rs1571524102
NM_201253.3(CRB1):c.1633delinsAA (p.Ser545fs)
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter) rs768107603
NM_201253.3(CRB1):c.1665dup (p.Leu556fs)
NM_201253.3(CRB1):c.1690G>A (p.Asp564Asn) rs757279881
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.1750G>T (p.Asp584Tyr) rs1664322968
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr) rs1471328495
NM_201253.3(CRB1):c.1831del (p.Ser611fs) rs2125471098
NM_201253.3(CRB1):c.1840G>C (p.Gly614Arg)
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser) rs1571525145
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) rs768905244
NM_201253.3(CRB1):c.1901del (p.Pro634fs)
NM_201253.3(CRB1):c.1922G>C (p.Gly641Ala) rs2125471502
NM_201253.3(CRB1):c.2035C>T (p.Gln679Ter)
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2053G>A (p.Gly685Arg) rs779069205
NM_201253.3(CRB1):c.2054G>C (p.Gly685Ala)
NM_201253.3(CRB1):c.2054G>T (p.Gly685Val) rs748175297
NM_201253.3(CRB1):c.2087G>A (p.Cys696Tyr)
NM_201253.3(CRB1):c.2096_2100dup (p.Pro701fs)
NM_201253.3(CRB1):c.2128+1G>C rs2125472205
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln) rs62645755
NM_201253.3(CRB1):c.2219C>T (p.Ser740Phe) rs1664649015
NM_201253.3(CRB1):c.2220dup (p.Met741fs) rs1553261468
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) rs62636267
NM_201253.3(CRB1):c.2223G>A (p.Met741Ile) rs1664649489
NM_201253.3(CRB1):c.2227G>C (p.Val743Leu) rs863224862
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.2234C>G (p.Thr745Arg) rs28939720
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del) rs62635653
NM_201253.3(CRB1):c.2246C>G (p.Ser749Ter)
NM_201253.3(CRB1):c.2248G>A (p.Gly750Ser) rs2125483920
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val) rs2125483925
NM_201253.3(CRB1):c.2264T>C (p.Leu755Ser)
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del) rs1433518605
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro) rs1355198242
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro) rs1664667136
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg) rs1664671663
NM_201253.3(CRB1):c.2497G>T (p.Gly833Cys) rs1664671663
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp) rs1085307972
NM_201253.3(CRB1):c.2537G>A (p.Gly846Glu) rs772476137
NM_201253.3(CRB1):c.2540T>C (p.Phe847Ser) rs758723407
NM_201253.3(CRB1):c.2548G>T (p.Gly850Cys)
NM_201253.3(CRB1):c.2549G>A (p.Gly850Asp) rs757137398
NM_201253.3(CRB1):c.2549G>C (p.Gly850Ala) rs757137398
NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs) rs62636270
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg) rs1664678030
NM_201253.3(CRB1):c.2570_2574del (p.Leu857fs)
NM_201253.3(CRB1):c.2585T>G (p.Leu862Arg) rs1664680011
NM_201253.3(CRB1):c.2638A>G (p.Asn880Asp) rs1664683759
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2640T>G (p.Asn880Lys) rs2125485441
NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter) rs759662695
NM_201253.3(CRB1):c.2676+1G>A
NM_201253.3(CRB1):c.2677-1G>T
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr) rs1571544334
NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser) rs1571544334
NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe)
NM_201253.3(CRB1):c.2695G>A (p.Gly899Arg)
NM_201253.3(CRB1):c.2704del (p.Cys902fs)
NM_201253.3(CRB1):c.2718G>A (p.Trp906Ter) rs2125488868
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) rs863223341
NM_201253.3(CRB1):c.2785_2787delinsTG (p.Gly929fs)
NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr) rs1558133731
NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter)
NM_201253.3(CRB1):c.2815T>C (p.Cys939Arg) rs1664775504
NM_201253.3(CRB1):c.2815T>G (p.Cys939Gly)
NM_201253.3(CRB1):c.2832del (p.Gly945fs)
NM_201253.3(CRB1):c.2833G>C (p.Gly945Arg)
NM_201253.3(CRB1):c.2842+2T>C rs2125489334
NM_201253.3(CRB1):c.2842T>G (p.Cys948Gly)
NM_201253.3(CRB1):c.2843-1G>T rs878853368
NM_201253.3(CRB1):c.291del (p.Lys97fs) rs2125303994
NM_201253.3(CRB1):c.2927T>C (p.Ile976Thr) rs2125498956
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu) rs2125499116
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) rs369184026
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn) rs62636274
NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile) rs62636274
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs) rs1665066272
NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro)
NM_201253.3(CRB1):c.3157A>G (p.Met1053Val)
NM_201253.3(CRB1):c.3164T>A (p.Val1055Glu) rs1665071224
NM_201253.3(CRB1):c.3166G>C (p.Asp1056His)
NM_201253.3(CRB1):c.3194del (p.Thr1065fs)
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.3308G>T (p.Gly1103Val) rs1665084413
NM_201253.3(CRB1):c.3318T>G (p.Tyr1106Ter)
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg) rs62636276
NM_201253.3(CRB1):c.3415C>T (p.Gln1139Ter)
NM_201253.3(CRB1):c.3441_3442del (p.Cys1148fs)
NM_201253.3(CRB1):c.3620_3630delinsGACA (p.Thr1207fs)
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201253.3(CRB1):c.3653G>C (p.Cys1218Ser) rs1450635782
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) rs1450635782
NM_201253.3(CRB1):c.3668G>C (p.Cys1223Ser)
NM_201253.3(CRB1):c.3673_3674dup (p.Asn1225fs)
NM_201253.3(CRB1):c.3712T>C (p.Cys1238Arg)
NM_201253.3(CRB1):c.3749+1G>A rs2125501295
NM_201253.3(CRB1):c.3749+1G>C
NM_201253.3(CRB1):c.3749+2_3749+3del rs1665120314
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs)
NM_201253.3(CRB1):c.3847del (p.Cys1283fs)
NM_201253.3(CRB1):c.3853T>C (p.Cys1285Arg) rs1665279918
NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)
NM_201253.3(CRB1):c.3854G>A (p.Cys1285Tyr) rs1665280076
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser) rs2125506459
NM_201253.3(CRB1):c.3863G>A (p.Gly1288Asp) rs533997742
NM_201253.3(CRB1):c.3878+1G>A rs748927280
NM_201253.3(CRB1):c.3878+2dup rs1665282720
NM_201253.3(CRB1):c.3884_3904del (p.Glu1295_Cys1301del) rs2125513549
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) rs2125513602
NM_201253.3(CRB1):c.3913C>G (p.Pro1305Ala)
NM_201253.3(CRB1):c.3914C>G (p.Pro1305Arg)
NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)
NM_201253.3(CRB1):c.3961T>A (p.Cys1321Ser) rs62635649
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.3961del (p.Cys1321fs)
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.3996C>G (p.Cys1332Trp) rs1665487563
NM_201253.3(CRB1):c.3999_4005+4delinsAAAGGAGAGC rs1665488161
NM_201253.3(CRB1):c.4003G>T (p.Asp1335Tyr) rs1665489039
NM_201253.3(CRB1):c.4006-1G>C rs752804194
NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn) rs1667260204
NM_201253.3(CRB1):c.4085C>A (p.Ala1362Asp) rs1667260968
NM_201253.3(CRB1):c.4142C>G (p.Pro1381Arg) rs1667264651
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651
NM_201253.3(CRB1):c.4207G>A (p.Glu1403Lys)
NM_201253.3(CRB1):c.4209G>T (p.Glu1403Asp) rs1490587812
NM_201253.3(CRB1):c.441_444del (p.Asp148fs) rs1571848688
NM_201253.3(CRB1):c.454T>C (p.Cys152Arg)
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) rs1571848744
NM_201253.3(CRB1):c.456T>A (p.Cys152Ter)
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe) rs1571848855
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.549C>A (p.Cys183Ter)
NM_201253.3(CRB1):c.565G>T (p.Glu189Ter) rs1658692554
NM_201253.3(CRB1):c.585C>G (p.Cys195Trp)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)
NM_201253.3(CRB1):c.652+1G>A rs2125304900
NM_201253.3(CRB1):c.652+3_652+6del rs1658700284
NM_201253.3(CRB1):c.679G>T (p.Glu227Ter)
NM_201253.3(CRB1):c.70+1G>T rs1237424465
NM_201253.3(CRB1):c.70+2T>A rs1654723466
NM_201253.3(CRB1):c.71-2A>G rs1383691293
NM_201253.3(CRB1):c.712dup (p.Thr238fs)
NM_201253.3(CRB1):c.716G>A (p.Cys239Tyr)
NM_201253.3(CRB1):c.721del (p.Asp241fs)
NM_201253.3(CRB1):c.80G>T (p.Cys27Phe) rs1460946384
NM_201253.3(CRB1):c.848+2T>C
NM_201253.3(CRB1):c.894_895del (p.Cys298_Glu299delinsTer)
NM_201253.3(CRB1):c.918G>A (p.Trp306Ter)
NM_201253.3(CRB1):c.974G>A (p.Cys325Tyr) rs1659844562
NM_201253.3(CRB1):c.995_996del (p.Thr332fs) rs1660503192
NM_201253.3(CRB1):c.998del (p.Gly333fs) rs2125354244
NM_201525.4(ADGRG1):c.1010dup (p.Gln338fs)
NM_201525.4(ADGRG1):c.1141C>T (p.His381Tyr) rs777643880
NM_201525.4(ADGRG1):c.1850G>C (p.Trp617Ser) rs587783656
NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe)
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter) rs587783657
NM_201525.4(ADGRG1):c.215del (p.Pro72fs) rs2044043566
NM_201525.4(ADGRG1):c.429G>A (p.Trp143Ter)
NM_213674.1(TPM2):c.773-2A>C rs2131843731
Single allele
m.8344A>G rs118192098
t(X;18)(p21.1;q21.31)

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