ClinVar Miner

List of variants studied for congenital muscular dystrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 601
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.*226T>C rs3824395 0.88255
NM_001077365.2(POMT1):c.*41T>C rs3739495 0.88174
NM_001077365.2(POMT1):c.*278T>C rs10793885 0.88104
NM_001077365.2(POMT1):c.*348C>T rs7857419 0.87122
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_013382.7(POMT2):c.*1742G>A rs12894594 0.83615
NM_013382.7(POMT2):c.*1501G>A rs4141640 0.83310
NM_003863.4(DPM2):c.213T>C (p.Tyr71=) rs6781 0.80380
NM_003863.3(DPM2):c.-152A>G rs6478802 0.79362
NM_003863.3(DPM2):c.-628A>G rs3758327 0.79360
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser) rs7997 0.79357
NM_001077365.2(POMT1):c.*453T>C rs11005 0.70594
NM_005198.5(CHKB):c.333+10G>T rs86337 0.59693
NM_013382.7(POMT2):c.*1137G>A rs7158951 0.56341
NM_013382.7(POMT2):c.*790G>A rs7159558 0.56247
NM_013382.7(POMT2):c.*1058G>A rs11624564 0.41162
NM_013382.7(POMT2):c.*1967C>T rs11547794 0.41103
NM_013382.7(POMT2):c.*1974G>A rs11159254 0.41096
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_133642.5(LARGE1):c.-177C>T rs3210587 0.29884
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_001079802.2(FKTN):c.-158G>C rs4742953 0.27121
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_013382.7(POMT2):c.-64G>A rs2270421 0.24706
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_013382.7(POMT2):c.*2325A>G rs11547793 0.22179
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_013382.7(POMT2):c.*75C>T rs1055592 0.20469
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_013382.7(POMT2):c.*1516A>G rs45518539 0.14946
NM_013382.7(POMT2):c.*587G>A rs10141995 0.14409
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_001079802.2(FKTN):c.*5618T>A rs1048215 0.12282
NM_001079802.2(FKTN):c.*786T>G rs10978177 0.12279
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_001079802.2(FKTN):c.*1133A>G rs2768282 0.12157
NM_001079802.2(FKTN):c.*2280T>C rs1024366 0.12115
NM_001079802.2(FKTN):c.*5260G>T rs2010861 0.11975
NM_001077365.2(POMT1):c.*421G>A rs10257 0.11588
NM_001079802.2(FKTN):c.*5041G>A rs1854124 0.11478
NM_013382.7(POMT2):c.*1748C>A rs45458096 0.11420
NM_005198.5(CHKB):c.*134T>C rs1056964 0.09639
NM_005198.5(CHKB):c.*216C>G rs3180872 0.09626
NM_133642.5(LARGE1):c.-63C>T rs16992986 0.09348
NM_133642.5(LARGE1):c.*921C>G rs16992034 0.07871
NM_001079802.2(FKTN):c.*5062G>A rs1854125 0.07482
NM_133642.5(LARGE1):c.-397C>G rs114106875 0.07319
NM_013382.7(POMT2):c.-124G>A rs147337187 0.06001
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_013382.7(POMT2):c.-128C>T rs116224770 0.03577
NM_133642.5(LARGE1):c.*154C>A rs73399512 0.03456
NM_133642.5(LARGE1):c.*856G>A rs77663505 0.03428
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_133642.5(LARGE1):c.*207G>A rs16992036 0.03294
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_005198.5(CHKB):c.*96G>C rs17001634 0.03056
NM_001079802.2(FKTN):c.*3778T>C rs79831528 0.02904
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_133642.5(LARGE1):c.*740A>G rs116335813 0.02207
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
NM_013382.7(POMT2):c.*1087C>T rs59725094 0.01993
NM_001077365.2(POMT1):c.*529G>A rs116005066 0.01991
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_013382.7(POMT2):c.*1337C>T rs45561437 0.01861
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_005198.5(CHKB):c.216C>T (p.Tyr72=) rs80067609 0.01782
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566 0.01621
NM_001079802.2(FKTN):c.*4825T>C rs115155934 0.01517
NM_001079802.2(FKTN):c.*2298C>G rs116107812 0.01491
NM_133642.5(LARGE1):c.165G>C (p.Thr55=) rs63446460 0.01465
NM_013382.7(POMT2):c.-56G>A rs567281401 0.01276
NM_003863.3(DPM2):c.-382C>T rs112813338 0.01257
NM_001079802.2(FKTN):c.*5517T>C rs114655654 0.01215
NM_001079802.2(FKTN):c.*818C>T rs79162268 0.01167
NM_133642.5(LARGE1):c.-149G>C rs143403352 0.01106
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.01037
NM_003863.4(DPM2):c.183G>A (p.Leu61=) rs11552794 0.01027
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_001079802.2(FKTN):c.*1638A>G rs78462952 0.00980
NM_001077365.2(POMT1):c.*338T>G rs193003183 0.00971
NM_003863.4(DPM2):c.177C>T (p.Leu59=) rs35334863 0.00922
NM_133642.5(LARGE1):c.552G>A (p.Thr184=) rs8142483 0.00887
NM_001077365.2(POMT1):c.-6T>G rs62620173 0.00840
NM_133642.5(LARGE1):c.*1201A>G rs11544101 0.00840
NM_005198.4(CHKB):c.-97G>C rs114094125 0.00832
NM_133642.5(LARGE1):c.-83+63217G>C rs114574565 0.00831
NM_013382.7(POMT2):c.*2091G>T rs139493728 0.00821
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00816
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_013382.7(POMT2):c.*1756C>T rs148688355 0.00815
NM_001079802.2(FKTN):c.*4491T>C rs41316524 0.00811
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001079802.2(FKTN):c.*5578G>A rs41277801 0.00776
NM_001079802.2(FKTN):c.*1229A>G rs116549376 0.00711
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_001079802.2(FKTN):c.*2213A>G rs141298287 0.00678
NM_005198.5(CHKB):c.-48G>T rs41282357 0.00660
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) rs116434191 0.00658
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001077365.2(POMT1):c.*206A>G rs111470256 0.00610
NM_133642.5(LARGE1):c.*1235A>G rs1801820 0.00578
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_017739.4(POMGNT1):c.-11G>A rs80107141 0.00484
NM_005198.5(CHKB):c.*208T>G rs41281533 0.00481
NM_001079802.2(FKTN):c.*2427G>T rs116364105 0.00472
NM_017739.4(POMGNT1):c.120+13C>T rs12737140 0.00459
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_017739.4(POMGNT1):c.*221G>A rs181362801 0.00374
NM_017739.4(POMGNT1):c.*451C>T rs148903585 0.00364
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_133642.5(LARGE1):c.-399A>T rs535216289 0.00327
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg) rs141381896 0.00317
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_001079802.2(FKTN):c.*2265T>C rs76003803 0.00304
NM_001079802.2(FKTN):c.*3861T>C rs185745657 0.00292
NM_005572.3(LMNA):c.-223C>T rs188625872 0.00284
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_013382.7(POMT2):c.*176C>T rs143803905 0.00265
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_001077365.2(POMT1):c.*635T>G rs112845474 0.00260
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_001077365.2(POMT1):c.*25C>T rs115818625 0.00230
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001079802.2(FKTN):c.*2592T>C rs538086095 0.00220
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_133642.5(LARGE1):c.-83+63202T>G rs147343461 0.00215
NM_001079802.2(FKTN):c.-88-6T>C rs115730708 0.00212
NM_013382.7(POMT2):c.1332+13C>T rs142916824 0.00211
NM_001079802.2(FKTN):c.*1018T>A rs16924759 0.00204
NM_001079802.2(FKTN):c.-96T>C rs151250905 0.00201
NM_017739.4(POMGNT1):c.236-13T>C rs150578902 0.00196
NM_005198.5(CHKB):c.249C>T (p.Phe83=) rs180979987 0.00176
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_013382.7(POMT2):c.*606G>A rs141262145 0.00173
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_005198.5(CHKB):c.149A>G (p.Tyr50Cys) rs138205828 0.00169
NM_001079802.2(FKTN):c.*3460G>A rs539474742 0.00168
NM_001079802.2(FKTN):c.*3918A>G rs17316607 0.00167
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_133642.5(LARGE1):c.-480C>T rs886057469 0.00148
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_005198.5(CHKB):c.457T>C (p.Leu153=) rs146693439 0.00138
NM_133642.5(LARGE1):c.-455G>A rs532736408 0.00134
NM_007171.3(POMT1):c.*694G>A rs550900373 0.00133
NM_133642.5(LARGE1):c.*100C>A rs567278765 0.00131
NM_001077365.2(POMT1):c.-168G>C rs556267289 0.00127
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_001077365.2(POMT1):c.1486+14G>A rs142995404 0.00118
NM_013382.7(POMT2):c.*1603C>T rs139267307 0.00111
NM_133642.5(LARGE1):c.-481G>T rs537756491 0.00109
NM_013382.7(POMT2):c.*2072C>T rs558857629 0.00107
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_133642.5(LARGE1):c.-271G>A rs185068235 0.00093
NM_001077365.2(POMT1):c.*182T>C rs535816758 0.00091
NM_005198.5(CHKB):c.670A>C (p.Asn224His) rs149858290 0.00088
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625 0.00084
NM_013382.7(POMT2):c.*758G>A rs371632843 0.00083
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_003863.3(DPM2):c.-587C>T rs566910080 0.00077
NM_017739.4(POMGNT1):c.*34G>A rs200540049 0.00076
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_001079802.2(FKTN):c.*1010G>A rs144159266 0.00068
NM_013382.7(POMT2):c.-142C>T rs886050827 0.00068
NM_003863.3(DPM2):c.-429G>T rs192275912 0.00064
NM_001079802.2(FKTN):c.*712C>T rs535353095 0.00062
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_003863.3(DPM2):c.*627C>T rs544907409 0.00061
NM_133642.5(LARGE1):c.-194G>A rs530725597 0.00059
NM_001079802.2(FKTN):c.-77A>G rs188804693 0.00057
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_001079802.2(FKTN):c.*100G>A rs542491025 0.00055
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_170707.4(LMNA):c.-128T>C rs80356803 0.00051
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_001079802.2(FKTN):c.*2910C>A rs148937517 0.00041
NM_001079802.2(FKTN):c.*1249C>T rs79589823 0.00039
NM_133642.5(LARGE1):c.*823_*824dup rs140177888 0.00039
NM_003863.4(DPM2):c.*553G>A rs886063480 0.00038
NM_001077365.2(POMT1):c.*613C>T rs551579745 0.00037
NM_133642.5(LARGE1):c.*796C>T rs144150303 0.00035
NM_013382.7(POMT2):c.*196G>A rs773072355 0.00034
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_013382.7(POMT2):c.*1805G>A rs184473107 0.00033
NM_133642.5(LARGE1):c.*998A>G rs886057455 0.00033
NM_133642.5(LARGE1):c.*798G>A rs778063005 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_003863.3(DPM2):c.-211T>G rs187834148 0.00027
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001079802.2(FKTN):c.*1843A>T rs117283748 0.00026
NM_001079802.2(FKTN):c.*3516T>C rs1041010308 0.00026
NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp) rs142135345 0.00025
NM_133642.5(LARGE1):c.1878-11G>T rs200819807 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_003863.3(DPM2):c.-612G>C rs886063487 0.00024
NM_013382.7(POMT2):c.*622C>G rs886050819 0.00024
NM_133642.5(LARGE1):c.*155C>T rs551266967 0.00023
NM_170707.4(LMNA):c.1698+83G>A rs555844506 0.00023
NM_005198.5(CHKB):c.263C>T (p.Pro88Leu) rs146163970 0.00022
NM_013382.7(POMT2):c.*2165T>C rs770272986 0.00022
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_133642.5(LARGE1):c.*699G>A rs760092745 0.00021
NM_013382.7(POMT2):c.*1252C>A rs569143920 0.00020
NM_003863.3(DPM2):c.-523C>A rs1010662067 0.00019
NM_013382.7(POMT2):c.*2053C>A rs759715686 0.00019
NM_133642.5(LARGE1):c.-343C>A rs886057467 0.00019
NM_133642.5(LARGE1):c.*455C>T rs886057460 0.00018
NM_001077365.2(POMT1):c.*614G>A rs373680261 0.00017
NM_133642.5(LARGE1):c.584G>A (p.Arg195His) rs147597912 0.00017
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642 0.00016
NM_001079802.2(FKTN):c.*1845G>T rs886063328 0.00016
NM_001079802.2(FKTN):c.*5356C>T rs553575648 0.00016
NM_001079802.2(FKTN):c.*71C>T rs747766931 0.00016
NM_003863.3(DPM2):c.-141G>A rs886063485 0.00016
NM_005198.5(CHKB):c.-27G>A rs367729011 0.00016
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser) rs199743727 0.00016
NM_133642.5(LARGE1):c.-247T>G rs886057463 0.00016
NM_153741.2(DPM3):c.249C>A (p.Ala83=) rs193215070 0.00016
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760 0.00015
NM_001077365.2(POMT1):c.606-15G>C rs201897506 0.00015
NM_001079802.2(FKTN):c.*2433G>A rs886063329 0.00015
NM_003863.3(DPM2):c.*632T>C rs371958283 0.00015
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934 0.00014
NM_001079802.2(FKTN):c.*1017A>G rs886063324 0.00014
NM_001079802.2(FKTN):c.*1681G>A rs886063327 0.00014
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_005198.5(CHKB):c.275C>T (p.Pro92Leu) rs140867913 0.00013
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514 0.00012
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001079802.2(FKTN):c.*2508G>T rs886063330 0.00011
NM_001079802.2(FKTN):c.*3547C>T rs886063336 0.00011
NM_005198.5(CHKB):c.944A>G (p.His315Arg) rs199641367 0.00011
NM_013382.7(POMT2):c.*1724C>T rs45510397 0.00011
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_017739.4(POMGNT1):c.752-15G>A rs368317059 0.00011
NM_133642.5(LARGE1):c.*499G>A rs886057458 0.00011
NM_133642.5(LARGE1):c.2073+11C>T rs774384587 0.00011
NM_133642.5(LARGE1):c.460G>A (p.Val154Ile) rs138938225 0.00011
NM_001077365.2(POMT1):c.*105G>A rs886063539 0.00010
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523 0.00010
NM_001079802.2(FKTN):c.*3377A>G rs148172557 0.00010
NM_013382.7(POMT2):c.*693C>G rs752332125 0.00010
NM_013382.7(POMT2):c.-149C>A rs886050828 0.00010
NM_133642.5(LARGE1):c.*770A>T rs886057456 0.00010
NM_133642.5(LARGE1):c.*849C>T rs149508241 0.00010
NM_001077365.2(POMT1):c.*448C>T rs373799176 0.00009
NM_001077365.2(POMT1):c.*591C>T rs1012682271 0.00009
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530 0.00009
NM_013382.7(POMT2):c.*1749C>A rs543216671 0.00009
NM_013382.7(POMT2):c.*727C>T rs980293755 0.00009
NM_013382.7(POMT2):c.*766C>T rs552352814 0.00009
NM_017739.4(POMGNT1):c.-141A>G rs886046387 0.00009
NM_170707.4(LMNA):c.-138T>C rs886045359 0.00009
NM_001077365.2(POMT1):c.1486+10C>T rs373393733 0.00008
NM_001079802.2(FKTN):c.*2984C>T rs886063332 0.00008
NM_003863.4(DPM2):c.-5G>A rs371551833 0.00008
NM_005198.5(CHKB):c.708C>T (p.Val236=) rs141934594 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_005198.5(CHKB):c.219C>T (p.Pro73=) rs751273046 0.00007
NM_133642.5(LARGE1):c.857G>A (p.Arg286His) rs200035534 0.00007
NM_001077365.2(POMT1):c.*37G>A rs201474628 0.00006
NM_001079802.2(FKTN):c.*2254A>G rs764218622 0.00006
NM_005198.5(CHKB):c.1037C>T (p.Ala346Val) rs772616505 0.00006
NM_005198.5(CHKB):c.980C>T (p.Ser327Phe) rs371355721 0.00006
NM_013382.7(POMT2):c.*1548G>A rs902166672 0.00006
NM_013382.7(POMT2):c.*1818T>C rs1010549526 0.00006
NM_013382.7(POMT2):c.*637C>G rs1327896686 0.00006
NM_013382.7(POMT2):c.1396C>T (p.Arg466Trp) rs763119319 0.00006
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser) rs377724143 0.00006
NM_133642.5(LARGE1):c.*186C>T rs780030367 0.00006
NM_133642.5(LARGE1):c.-242C>T rs886057462 0.00006
NM_133642.5(LARGE1):c.-277T>G rs886057464 0.00006
NM_133642.5(LARGE1):c.-287A>G rs886057465 0.00006
NM_133642.5(LARGE1):c.-83+63184A>C rs759992064 0.00006
NM_133642.5(LARGE1):c.99C>T (p.Ser33=) rs377353667 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_001079802.2(FKTN):c.*954T>A rs886063323 0.00005
NM_003863.4(DPM2):c.197-5C>T rs886063482 0.00005
NM_005198.4(CHKB):c.-94G>A rs886057639 0.00005
NM_013382.7(POMT2):c.*2200G>A rs1037547422 0.00005
NM_013382.7(POMT2):c.*289G>A rs886050823 0.00005
NM_013382.7(POMT2):c.*601G>A rs150190025 0.00005
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=) rs138950267 0.00005
NM_017739.4(POMGNT1):c.1540-6C>T rs770449394 0.00005
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=) rs115686643 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_001077365.2(POMT1):c.*68C>T rs773474667 0.00004
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg) rs376882399 0.00004
NM_001079802.2(FKTN):c.*1175C>T rs996474083 0.00004
NM_001079802.2(FKTN):c.207T>C (p.Asn69=) rs752921570 0.00004
NM_001079802.2(FKTN):c.397A>G (p.Met133Val) rs569778463 0.00004
NM_013382.7(POMT2):c.*119T>C rs886050824 0.00004
NM_013382.7(POMT2):c.*11A>G rs373236103 0.00004
NM_013382.7(POMT2):c.*1265T>G rs886050816 0.00004
NM_013382.7(POMT2):c.*2359A>T rs564345093 0.00004
NM_013382.7(POMT2):c.*809G>A rs1035134599 0.00004
NM_013382.7(POMT2):c.1692G>A (p.Thr564=) rs183828175 0.00004
NM_013382.7(POMT2):c.631G>A (p.Val211Ile) rs373139592 0.00004
NM_133642.5(LARGE1):c.*566G>A rs878945156 0.00004
NM_133642.5(LARGE1):c.1287C>T (p.Asn429=) rs561439887 0.00004
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln) rs763697782 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_001077365.2(POMT1):c.-30G>A rs780382988 0.00003
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412 0.00003
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=) rs727503872 0.00003
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598 0.00003
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277 0.00003
NM_001079802.2(FKTN):c.*1276C>T rs886063325 0.00003
NM_001079802.2(FKTN):c.*2505A>G rs367988702 0.00003
NM_001079802.2(FKTN):c.*760A>C rs532531159 0.00003
NM_001079802.2(FKTN):c.*79C>T rs530616539 0.00003
NM_001079802.2(FKTN):c.-136A>G rs886063318 0.00003
NM_005198.5(CHKB):c.*126C>T rs112742765 0.00003
NM_005198.5(CHKB):c.214T>C (p.Tyr72His) rs747691808 0.00003
NM_005198.5(CHKB):c.927+10C>G rs549171476 0.00003
NM_007171.3(POMT1):c.-195C>T rs886063536 0.00003
NM_007171.3(POMT1):c.-196G>T rs886063535 0.00003
NM_013382.7(POMT2):c.*349G>A rs886050822 0.00003
NM_013382.7(POMT2):c.*927G>C rs886050818 0.00003
NM_013382.7(POMT2):c.553G>A (p.Gly185Arg) rs886050826 0.00003
NM_017739.4(POMGNT1):c.1738C>A (p.Arg580=) rs386834018 0.00003
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly) rs751402236 0.00003
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp) rs34058684 0.00003
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665 0.00003
NM_133642.5(LARGE1):c.*580C>T rs776235903 0.00003
NM_133642.5(LARGE1):c.*833A>G rs748248240 0.00003
NM_133642.5(LARGE1):c.*969G>A rs892305427 0.00003
NM_133642.5(LARGE1):c.-47C>T rs775356534 0.00003
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=) rs759427879 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_001077365.2(POMT1):c.*64T>A rs892418533 0.00002
NM_001077365.2(POMT1):c.*693C>T rs886063541 0.00002
NM_001077365.2(POMT1):c.36G>A (p.Thr12=) rs201262353 0.00002
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn) rs754611085 0.00002
NM_001079802.2(FKTN):c.*2464G>A rs1054760144 0.00002
NM_001079802.2(FKTN):c.*3352C>A rs143805719 0.00002
NM_001079802.2(FKTN):c.-39G>A rs1284252327 0.00002
NM_005198.5(CHKB):c.722A>G (p.Asn241Ser) rs371751084 0.00002
NM_005198.5(CHKB):c.745T>C (p.Leu249=) rs760310819 0.00002
NM_013382.7(POMT2):c.*1053A>G rs886050817 0.00002
NM_013382.7(POMT2):c.1105C>T (p.Arg369Cys) rs779190087 0.00002
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp) rs751153662 0.00002
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=) rs772615481 0.00002
NM_133642.5(LARGE1):c.2070G>A (p.Val690=) rs771631103 0.00002
NM_170707.4(LMNA):c.-109G>T rs886045360 0.00002
NM_170707.4(LMNA):c.-44T>A rs1185731069 0.00002
NM_170707.4(LMNA):c.1698+57G>A rs557334569 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=) rs771523115 0.00001
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr) rs149575164 0.00001
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile) rs1008021925 0.00001
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr) rs747138675 0.00001
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645 0.00001
NM_001079802.2(FKTN):c.*1511A>G rs886063326 0.00001
NM_001079802.2(FKTN):c.*166A>G rs1419619269 0.00001
NM_001079802.2(FKTN):c.*324G>C rs536822992 0.00001
NM_001079802.2(FKTN):c.*4501A>G rs1045549173 0.00001
NM_001079802.2(FKTN):c.*4599G>A rs886063338 0.00001
NM_001079802.2(FKTN):c.*462T>C rs1014071784 0.00001
NM_001079802.2(FKTN):c.*4908A>G rs1834324161 0.00001
NM_001079802.2(FKTN):c.*4940C>G rs886063339 0.00001
NM_001079802.2(FKTN):c.*5003T>G rs886063340 0.00001
NM_001079802.2(FKTN):c.*5161C>T rs886063341 0.00001
NM_001079802.2(FKTN):c.*777C>A rs369316426 0.00001
NM_001079802.2(FKTN):c.-114G>A rs1564210000 0.00001
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=) rs886063320 0.00001
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319 0.00001
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_003863.3(DPM2):c.-208G>A rs1290789503 0.00001
NM_003863.3(DPM2):c.-88C>T rs886063484 0.00001
NM_003863.4(DPM2):c.*14A>T rs1352343761 0.00001
NM_003863.4(DPM2):c.*529G>A rs926580610 0.00001
NM_005198.5(CHKB):c.-13T>C rs2070729352 0.00001
NM_005198.5(CHKB):c.1031+12G>A rs777277938 0.00001
NM_005198.5(CHKB):c.1114-6C>T rs151123092 0.00001
NM_005198.5(CHKB):c.234C>G (p.Leu78=) rs929019284 0.00001
NM_005198.5(CHKB):c.678-12A>G rs749813559 0.00001
NM_005198.5(CHKB):c.692C>G (p.Ser231Cys) rs199783402 0.00001
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys) rs200919604 0.00001
NM_005572.3(LMNA):c.-210T>C rs886045356 0.00001
NM_013382.7(POMT2):c.*1285T>C rs886050815 0.00001
NM_013382.7(POMT2):c.*1579C>A rs780717261 0.00001
NM_013382.7(POMT2):c.*2381A>G rs993351501 0.00001
NM_013382.7(POMT2):c.*316C>G rs1460121683 0.00001
NM_013382.7(POMT2):c.*597C>T rs886050820 0.00001
NM_013382.7(POMT2):c.1183+6G>C rs1381239018 0.00001
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) rs764723711 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) rs753326186 0.00001
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00001
NM_013382.7(POMT2):c.891C>A (p.Thr297=) rs769829396 0.00001
NM_013382.7(POMT2):c.924-6C>T rs764462802 0.00001
NM_017739.4(POMGNT1):c.-64G>A rs927602645 0.00001
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=) rs769213562 0.00001
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys) rs1238403887 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.813A>C (p.Lys271Asn) rs757156888 0.00001
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys) rs1476814352 0.00001
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589 0.00001
NM_032237.5(POMK):c.43C>T (p.Arg15Ter) rs774013796 0.00001
NM_133642.5(LARGE1):c.*1229G>A rs918504034 0.00001
NM_133642.5(LARGE1):c.-34G>A rs759430272 0.00001
NM_133642.5(LARGE1):c.-359C>G rs886057468 0.00001
NM_133642.5(LARGE1):c.-500T>C rs968923312 0.00001
NM_133642.5(LARGE1):c.-527C>T rs956387343 0.00001
NM_133642.5(LARGE1):c.1005+15T>G rs1414312676 0.00001
NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr) rs752854659 0.00001
NM_133642.5(LARGE1):c.230G>A (p.Arg77His) rs1402888044 0.00001
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
NM_133642.5(LARGE1):c.492-6C>G rs762612242 0.00001
NM_133642.5(LARGE1):c.506A>G (p.His169Arg) rs886057461 0.00001
NM_153741.2(DPM3):c.178C>T (p.Arg60Cys) rs766751249 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_001077365.2(POMT1):c.*285A>G rs4740259
NM_001077365.2(POMT1):c.*330G>A rs556148765
NM_001077365.2(POMT1):c.*370C>G rs1950358020
NM_001077365.2(POMT1):c.*381G>A rs57955153
NM_001077365.2(POMT1):c.-83C>T rs550740786
NM_001077365.2(POMT1):c.1083-7C>G rs1428085460
NM_001077365.2(POMT1):c.1110G>T (p.Pro370=) rs766759606
NM_001077365.2(POMT1):c.1249C>T (p.Pro417Ser) rs1948110753
NM_001077365.2(POMT1):c.1311G>A (p.Lys437=) rs1949210371
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) rs753403833
NM_001077365.2(POMT1):c.1581G>A (p.Leu527=) rs1378023866
NM_001077365.2(POMT1):c.2004-9C>T rs886063538
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.26T>C (p.Val9Ala) rs1945225387
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile) rs1184495903
NM_001077365.2(POMT1):c.699+18G>C rs886063537
NM_001077365.2(POMT1):c.927C>T (p.Asn309=) rs753694905
NM_001079802.2(FKTN):c.*2516G>T rs886063331
NM_001079802.2(FKTN):c.*2640G>C rs556673268
NM_001079802.2(FKTN):c.*2674A>G rs1834156242
NM_001079802.2(FKTN):c.*2902C>T rs1834171760
NM_001079802.2(FKTN):c.*2904G>A rs138806979
NM_001079802.2(FKTN):c.*3046T>C rs886063333
NM_001079802.2(FKTN):c.*3156A>T rs886063334
NM_001079802.2(FKTN):c.*3312T>G rs1343215418
NM_001079802.2(FKTN):c.*3432dup rs879020291
NM_001079802.2(FKTN):c.*3985C>T rs1293866364
NM_001079802.2(FKTN):c.*4238del rs776272545
NM_001079802.2(FKTN):c.*42del rs749100291
NM_001079802.2(FKTN):c.*436C>T rs886063322
NM_001079802.2(FKTN):c.*4646A>G rs1834308173
NM_001079802.2(FKTN):c.*4705G>A rs1834312188
NM_001079802.2(FKTN):c.*4826A>G rs1834318656
NM_001079802.2(FKTN):c.*5303dup rs879263714
NM_001079802.2(FKTN):c.*5817A>C rs886063343
NM_001079802.2(FKTN):c.*806G>C rs75971372
NM_001079802.2(FKTN):c.-181+1G>T rs574535599
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079802.2(FKTN):c.-90del rs727502845
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile) rs1293245717
NM_001079802.2(FKTN):c.705A>G (p.Pro235=) rs1829190548
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.910+7T>G rs1830641729
NM_001079802.2(FKTN):c.911-13A>G rs766103012
NM_002206.3(ITGA7):c.180dup (p.Gln61fs) rs1565644465
NM_003863.3(DPM2):c.-267T>C rs1831540551
NM_003863.3(DPM2):c.-319G>A rs886063486
NM_003863.3(DPM2):c.-84G>A rs1831537719
NM_003863.4(DPM2):c.*124G>C rs1831491179
NM_003863.4(DPM2):c.*231C>T rs1831489245
NM_003863.4(DPM2):c.*404C>T rs1245531633
NM_003863.4(DPM2):c.*49G>T rs886063481
NM_003863.4(DPM2):c.*510A>G rs1831485679
NM_003863.4(DPM2):c.37del (p.Leu13fs) rs1349389319
NM_003863.4(DPM2):c.88C>G (p.Leu30Val) rs886063483
NM_005198.5(CHKB):c.-19G>T rs373596637
NM_005198.5(CHKB):c.1114-14G>A rs756289571
NM_005198.5(CHKB):c.1114-3T>G rs886057638
NM_005198.5(CHKB):c.447+12G>A rs749454476
NM_005198.5(CHKB):c.512T>C (p.Met171Thr) rs774685301
NM_005198.5(CHKB):c.565_568del (p.Phe189fs) rs752436924
NM_005198.5(CHKB):c.819-15A>T rs1272038088
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_013382.7(POMT2):c.*103C>T rs886050825
NM_013382.7(POMT2):c.*1043C>T rs373396403
NM_013382.7(POMT2):c.*1317A>G rs144329117
NM_013382.7(POMT2):c.*1317A>T rs144329117
NM_013382.7(POMT2):c.*1474G>A rs749841763
NM_013382.7(POMT2):c.*15T>C rs538140316
NM_013382.7(POMT2):c.*1610T>C rs886050814
NM_013382.7(POMT2):c.*1641C>T rs151201281
NM_013382.7(POMT2):c.*1734A>C rs1889915019
NM_013382.7(POMT2):c.*1774C>T rs1889911263
NM_013382.7(POMT2):c.*186C>G rs547018226
NM_013382.7(POMT2):c.*1893G>A rs114623446
NM_013382.7(POMT2):c.*1906G>A rs1429067153
NM_013382.7(POMT2):c.*2077T>C rs1889895782
NM_013382.7(POMT2):c.*2080G>A rs1889895704
NM_013382.7(POMT2):c.*2093A>G rs528818473
NM_013382.7(POMT2):c.*2151A>G rs45579739
NM_013382.7(POMT2):c.*574T>C rs574135706
NM_013382.7(POMT2):c.*594G>A rs886050821
NM_013382.7(POMT2):c.*605C>G rs186897393
NM_013382.7(POMT2):c.*605C>T rs186897393
NM_013382.7(POMT2):c.-113G>A rs1891868176
NM_013382.7(POMT2):c.-136G>A rs1891870150
NM_013382.7(POMT2):c.-172C>A rs897215490
NM_013382.7(POMT2):c.-176C>G rs978645827
NM_013382.7(POMT2):c.1133A>G (p.His378Arg) rs867000155
NM_013382.7(POMT2):c.1367T>C (p.Ile456Thr) rs1890397099
NM_013382.7(POMT2):c.1464G>A (p.Ser488=) rs375698520
NM_013382.7(POMT2):c.1576+10G>T rs756884609
NM_013382.7(POMT2):c.1725+13G>C rs1890173997
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter) rs1566644018
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.547+14G>T rs1404659015
NM_013382.7(POMT2):c.90C>T (p.Gly30=) rs923004188
NM_017739.4(POMGNT1):c.*207G>A rs1657534329
NM_017739.4(POMGNT1):c.-144C>T rs1571674193
NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser) rs886046385
NM_017739.4(POMGNT1):c.121-6C>A rs558052679
NM_017739.4(POMGNT1):c.121A>G (p.Thr41Ala) rs886046386
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=) rs1657621738
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=) rs1657570765
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg) rs747723242
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln) rs200227264
NM_133642.5(LARGE1):c.*479A>T rs886057459
NM_133642.5(LARGE1):c.*501T>C rs886057457
NM_133642.5(LARGE1):c.*639T>G rs373361875
NM_133642.5(LARGE1):c.*995T>C rs1928531659
NM_133642.5(LARGE1):c.-202C>A rs946350081
NM_133642.5(LARGE1):c.-292G>C rs886057466
NM_133642.5(LARGE1):c.-377C>G rs1218154642
NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met) rs369168322
NM_133642.5(LARGE1):c.1600G>A (p.Val534Met) rs1428533575
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_133642.5(LARGE1):c.188A>G (p.Glu63Gly) rs539747006
NM_133642.5(LARGE1):c.2073+12G>A rs377566674
NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys) rs757062605
NM_133642.5(LARGE1):c.2212A>G (p.Met738Val) rs1928773545
NM_133642.5(LARGE1):c.479T>G (p.Val160Gly) rs1372134080
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239
NM_170707.4(LMNA):c.-142C>A rs886045358
NM_170707.4(LMNA):c.-183C>A rs886045357
NM_170707.4(LMNA):c.-5C>A rs886045362
NM_170707.4(LMNA):c.-62C>A rs886045361
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) rs505058
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.356+12C>A rs1649747809
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) rs1651418246
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300

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