ClinVar Miner

List of variants studied for qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3438
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HGVS dbSNP gnomAD frequency
NM_032237.5(POMK):c.282+34C>A rs5024011 0.99646
NM_021971.4(GMPPB):c.551A>G (p.Gln184Arg) rs1466685 0.98834
NM_001077365.2(POMT1):c.856-49T>G rs4740163 0.97653
NM_001077365.2(POMT1):c.986+49G>A rs10901066 0.88278
NM_001077365.2(POMT1):c.876T>C (p.Thr292=) rs10901065 0.88277
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) rs3739494 0.88273
NM_001077365.2(POMT1):c.428-21T>C rs11243404 0.88267
NM_001077365.2(POMT1):c.700-48A>G rs2018621 0.88264
NM_001077365.2(POMT1):c.*226T>C rs3824395 0.88255
NM_001077365.2(POMT1):c.699+53A>G rs2296949 0.88248
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.1698+48C>G rs2277152 0.84050
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_013382.7(POMT2):c.1383G>A (p.Arg461=) rs2270419 0.82874
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) rs3209079 0.82113
NM_001077365.2(POMT1):c.*453T>C rs11005 0.70594
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.1184-47A>C rs2287387 0.51704
NM_001101426.4(CRPPA):c.789+89A>G rs62441885 0.50511
NM_001101426.4(CRPPA):c.534+13T>A rs6461252 0.47530
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_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939 0.29616
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_013382.7(POMT2):c.*2325A>G rs11547793 0.22179
NM_013382.7(POMT2):c.*75C>T rs1055592 0.20469
NM_013382.7(POMT2):c.1911= (p.Leu637=) rs3209079 0.17887
NM_024301.5(FKRP):c.-34C>T rs3201779 0.17414
NM_013382.7(POMT2):c.1383= (p.Arg461=) rs2270419 0.17126
NM_013382.7(POMT2):c.*1516A>G rs45518539 0.14946
NM_001077365.2(POMT1):c.1082+16G>A rs59515295 0.14451
NM_013382.7(POMT2):c.*587G>A rs10141995 0.14409
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
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.699+53= rs2296949 0.11752
NM_001077365.2(POMT1):c.1047= (p.Asp349=) rs3739494 0.11727
NM_001077365.2(POMT1):c.876= (p.Thr292=) rs10901065 0.11723
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.1117-20C>T rs7153929 0.11460
NM_013382.7(POMT2):c.*1748C>A rs45458096 0.11420
NM_001079802.2(FKTN):c.*5062G>A rs1854125 0.07482
NM_013382.7(POMT2):c.-124G>A rs147337187 0.06001
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
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_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_001101426.4(CRPPA):c.726A>G (p.Gln242=) rs61746966 0.02927
NM_001079802.2(FKTN):c.*3778T>C rs79831528 0.02904
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789 0.02478
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
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_013382.7(POMT2):c.*1337C>T rs45561437 0.01861
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566 0.01621
NM_032237.5(POMK):c.795C>T (p.Asp265=) rs36071326 0.01548
NM_001079802.2(FKTN):c.*4825T>C rs115155934 0.01517
NM_001079802.2(FKTN):c.*2298C>G rs116107812 0.01491
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012 0.01474
NM_021971.4(GMPPB):c.376C>G (p.His126Asp) rs34345884 0.01439
NM_013382.7(POMT2):c.-56G>A rs567281401 0.01276
NM_001079802.2(FKTN):c.*5517T>C rs114655654 0.01215
NM_021971.4(GMPPB):c.330C>T (p.Asp110=) rs11547261 0.01192
NM_001079802.2(FKTN):c.*818C>T rs79162268 0.01167
NM_021971.4(GMPPB):c.551= (p.Gln184=) rs1466685 0.01166
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.01037
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_001077365.2(POMT1):c.1825+19del rs11345097 0.00998
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_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_001077365.2(POMT1):c.-6T>G rs62620173 0.00840
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_001079802.2(FKTN):c.*5578G>A rs41277801 0.00776
NM_032237.5(POMK):c.624G>C (p.Leu208=) rs34040483 0.00759
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278 0.00734
NM_001079802.2(FKTN):c.*1229A>G rs116549376 0.00711
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001079802.2(FKTN):c.*2213A>G rs141298287 0.00678
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) rs116434191 0.00658
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00613
NM_001077365.2(POMT1):c.*206A>G rs111470256 0.00610
NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys) rs61744487 0.00561
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_001079802.2(FKTN):c.*2427G>T rs116364105 0.00472
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_013382.7(POMT2):c.2148-18A>G rs138488805 0.00343
NM_001101426.4(CRPPA):c.1251+18C>T rs201599524 0.00339
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001079802.2(FKTN):c.*2265T>C rs76003803 0.00304
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645 0.00299
NM_001079802.2(FKTN):c.*3861T>C rs185745657 0.00292
NM_032237.5(POMK):c.714C>T (p.Ser238=) rs148949414 0.00266
NM_013382.7(POMT2):c.*176C>T rs143803905 0.00265
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_001077365.2(POMT1):c.*635T>G rs112845474 0.00260
NM_013382.7(POMT2):c.924-10C>T rs142122657 0.00258
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_001077365.2(POMT1):c.*25C>T rs115818625 0.00230
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_032237.5(POMK):c.1006G>A (p.Asp336Asn) rs113361507 0.00226
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001079802.2(FKTN):c.*2592T>C rs538086095 0.00220
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127 0.00220
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
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_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619 0.00181
NM_032237.5(POMK):c.902T>C (p.Met301Thr) rs33920561 0.00181
NM_013382.7(POMT2):c.*606G>A rs141262145 0.00173
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 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_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476 0.00153
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460 0.00151
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433 0.00144
NM_032237.5(POMK):c.564C>T (p.Ile188=) rs55724435 0.00136
NM_007171.3(POMT1):c.*694G>A rs550900373 0.00133
NM_001077365.2(POMT1):c.-168G>C rs556267289 0.00127
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_001101426.4(CRPPA):c.790-14T>C rs142414812 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_032237.5(POMK):c.618C>T (p.Asn206=) rs7005111 0.00116
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_021971.4(GMPPB):c.1017C>T (p.Asn339=) rs147074020 0.00113
NM_013382.7(POMT2):c.*1603C>T rs139267307 0.00111
NM_032237.5(POMK):c.886A>G (p.Ile296Val) rs6990761 0.00111
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_013382.7(POMT2):c.*2072C>T rs558857629 0.00107
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_013382.7(POMT2):c.1593G>A (p.Leu531=) rs147934334 0.00102
NM_001101426.4(CRPPA):c.790-11C>T rs141363557 0.00101
NM_021971.4(GMPPB):c.640+11G>A rs191912441 0.00101
NM_032237.5(POMK):c.882G>A (p.Gly294=) rs56282240 0.00099
NM_001077365.2(POMT1):c.*182T>C rs535816758 0.00091
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130 0.00088
NM_001101426.4(CRPPA):c.1251+16A>T rs187344556 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_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355 0.00083
NM_032237.5(POMK):c.20A>G (p.Asn7Ser) rs143957574 0.00080
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381 0.00071
NM_001079802.2(FKTN):c.*1010G>A rs144159266 0.00068
NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met) rs202011820 0.00068
NM_013382.7(POMT2):c.-142C>T rs886050827 0.00068
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_024301.5(FKRP):c.606G>A (p.Leu202=) rs140084192 0.00066
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr) rs144748043 0.00065
NM_001079802.2(FKTN):c.*712C>T rs535353095 0.00062
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_001077365.2(POMT1):c.2004-20C>T rs372767898 0.00061
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_021971.4(GMPPB):c.951+9G>A rs55816606 0.00059
NM_001079802.2(FKTN):c.-77A>G rs188804693 0.00057
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208 0.00057
NM_032237.5(POMK):c.565A>G (p.Ile189Val) rs149297443 0.00057
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_001101426.4(CRPPA):c.222G>A (p.Arg74=) rs769058832 0.00056
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_001079802.2(FKTN):c.*100G>A rs542491025 0.00055
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126 0.00050
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999 0.00045
NM_032237.5(POMK):c.1013T>G (p.Leu338Arg) rs200555259 0.00044
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_021971.4(GMPPB):c.309T>C (p.Pro103=) rs147516683 0.00042
NM_001079802.2(FKTN):c.*2910C>A rs148937517 0.00041
NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr) rs76700503 0.00041
NM_013382.7(POMT2):c.656+16C>G rs200230662 0.00041
NM_001079802.2(FKTN):c.*1249C>T rs79589823 0.00039
NM_013382.7(POMT2):c.1786-18A>G rs193173216 0.00039
NM_013382.7(POMT2):c.2148-17C>G rs201328470 0.00038
NM_001077365.2(POMT1):c.*613C>T rs551579745 0.00037
NM_021971.4(GMPPB):c.729G>A (p.Arg243=) rs370448223 0.00035
NM_013382.7(POMT2):c.*196G>A rs773072355 0.00034
NM_013382.7(POMT2):c.*1805G>A rs184473107 0.00033
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) rs145387221 0.00032
NM_001077365.2(POMT1):c.855+6T>C rs200692465 0.00031
NM_021971.4(GMPPB):c.1065G>A (p.Glu355=) rs143218268 0.00031
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp) rs144236975 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_001077365.2(POMT1):c.1175+16G>A rs371908251 0.00030
NM_001077365.2(POMT1):c.1698+10C>A rs184131819 0.00029
NM_032237.5(POMK):c.759C>T (p.Phe253=) rs201232766 0.00028
NM_013382.7(POMT2):c.1195C>T (p.Pro399Ser) rs200821647 0.00027
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 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_001079802.2(FKTN):c.910+13C>T rs375259473 0.00026
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665 0.00026
NM_013382.7(POMT2):c.1944A>G (p.Thr648=) rs148146976 0.00026
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00026
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530 0.00026
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001077365.2(POMT1):c.1671T>C (p.Ile557=) rs200969468 0.00024
NM_013382.7(POMT2):c.*622C>G rs886050819 0.00024
NM_021971.4(GMPPB):c.562-9C>A rs183240200 0.00024
NM_021971.4(GMPPB):c.702G>A (p.Gln234=) rs368795315 0.00024
NM_001077365.2(POMT1):c.539+19C>T rs376642449 0.00023
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met) rs377037072 0.00023
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met) rs142445941 0.00023
NM_001101426.4(CRPPA):c.684+12G>C rs376232862 0.00022
NM_013382.7(POMT2):c.*2165T>C rs770272986 0.00022
NM_013382.7(POMT2):c.293A>G (p.Asn98Ser) rs368034790 0.00022
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser) rs184127567 0.00022
NM_024301.5(FKRP):c.885C>T (p.Arg295=) rs769005880 0.00022
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177 0.00021
NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys) rs145464516 0.00021
NM_001077365.2(POMT1):c.1614C>T (p.Asp538=) rs141933812 0.00021
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_021971.4(GMPPB):c.939C>T (p.Arg313=) rs147714661 0.00021
NM_001077365.2(POMT1):c.1116T>C (p.Pro372=) rs146945848 0.00020
NM_013382.7(POMT2):c.*1252C>A rs569143920 0.00020
NM_032237.5(POMK):c.609C>T (p.Cys203=) rs567303957 0.00020
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) rs149033995 0.00019
NM_001101426.4(CRPPA):c.531C>T (p.His177=) rs376195897 0.00019
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262 0.00019
NM_013382.7(POMT2):c.*2053C>A rs759715686 0.00019
NM_013382.7(POMT2):c.1397G>A (p.Arg466Gln) rs138266415 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_032237.5(POMK):c.44G>A (p.Arg15Gln) rs377725187 0.00019
NM_021971.4(GMPPB):c.129+17G>A rs375887616 0.00018
NM_001077365.2(POMT1):c.*614G>A rs373680261 0.00017
NM_001077365.2(POMT1):c.1175+15C>T rs200398689 0.00017
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_013382.7(POMT2):c.1627C>A (p.Leu543Met) rs367552151 0.00017
NM_032237.5(POMK):c.136C>T (p.Arg46Ter) rs202036744 0.00017
NM_032237.5(POMK):c.373A>T (p.Met125Leu) rs146303063 0.00017
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642 0.00016
NM_001079802.2(FKTN):c.*5356C>T rs553575648 0.00016
NM_001079802.2(FKTN):c.*71C>T rs747766931 0.00016
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) rs770257307 0.00016
NM_013382.7(POMT2):c.1206A>C (p.Pro402=) rs142479943 0.00016
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser) rs199743727 0.00016
NM_013382.7(POMT2):c.2083T>A (p.Trp695Arg) rs139308429 0.00016
NM_013382.7(POMT2):c.2127G>A (p.Leu709=) rs138142899 0.00016
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln) rs140217866 0.00016
NM_032237.5(POMK):c.589G>T (p.Val197Leu) rs374943200 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_013382.7(POMT2):c.656+3C>G rs561052172 0.00015
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) rs143129484 0.00015
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419 0.00014
NM_001077365.2(POMT1):c.246C>T (p.Phe82=) rs148887050 0.00014
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_001079802.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441 0.00014
NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys) rs202126749 0.00014
NM_013382.7(POMT2):c.36C>A (p.Ser12=) rs771074829 0.00014
NM_021971.4(GMPPB):c.887G>A (p.Arg296Gln) rs144040971 0.00014
NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser) rs139774354 0.00013
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618 0.00013
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00013
NM_013382.7(POMT2):c.1337G>A (p.Gly446Glu) rs376649599 0.00013
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly) rs550420394 0.00013
NM_013382.7(POMT2):c.1920C>T (p.Gly640=) rs150755807 0.00013
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00013
NM_021971.4(GMPPB):c.403-6A>G rs377689496 0.00013
NM_024301.5(FKRP):c.828A>G (p.Leu276=) rs745994685 0.00013
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514 0.00012
NM_001077365.2(POMT1):c.396C>T (p.Ala132=) rs375288218 0.00012
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210 0.00012
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser) rs369832637 0.00012
NM_013382.7(POMT2):c.1889C>T (p.Ala630Val) rs752214239 0.00012
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=) rs200916353 0.00011
NM_001077365.2(POMT1):c.281-5T>C rs367743923 0.00011
NM_001077365.2(POMT1):c.875C>G (p.Thr292Ser) rs376471064 0.00011
NM_001077365.2(POMT1):c.921G>T (p.Leu307=) rs371243573 0.00011
NM_001079802.2(FKTN):c.*2508G>T rs886063330 0.00011
NM_001079802.2(FKTN):c.*3547C>T rs886063336 0.00011
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) rs761842188 0.00011
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=) rs763209907 0.00011
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) rs202108204 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_013382.7(POMT2):c.1333-13G>C rs755487607 0.00011
NM_021971.4(GMPPB):c.402+15C>T rs371972364 0.00011
NM_021971.4(GMPPB):c.956G>A (p.Arg319His) rs768327938 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) rs771333733 0.00011
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly) rs753297636 0.00011
NM_032237.5(POMK):c.282+20C>T rs181979471 0.00011
NM_032237.5(POMK):c.54G>A (p.Pro18=) rs201226142 0.00011
NM_032237.5(POMK):c.760G>A (p.Val254Met) rs34715198 0.00011
NM_001077365.2(POMT1):c.*105G>A rs886063539 0.00010
NM_001077365.2(POMT1):c.1252G>A (p.Ala418Thr) rs142057517 0.00010
NM_001077365.2(POMT1):c.2067C>T (p.His689=) rs141895982 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_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) rs199691459 0.00010
NM_013382.7(POMT2):c.*693C>G rs752332125 0.00010
NM_013382.7(POMT2):c.-149C>A rs886050828 0.00010
NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp) rs398124261 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_013382.7(POMT2):c.2056C>T (p.Arg686Trp) rs727502859 0.00010
NM_021971.4(GMPPB):c.129+5G>A rs370203820 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_032237.5(POMK):c.626C>T (p.Pro209Leu) rs369093146 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.1149C>T (p.His383=) rs202121299 0.00009
NM_001077365.2(POMT1):c.1740G>A (p.Ser580=) rs148758906 0.00009
NM_001077365.2(POMT1):c.1826-17C>T rs377691462 0.00009
NM_001077365.2(POMT1):c.427+12G>A rs372588957 0.00009
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser) rs182295674 0.00009
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530 0.00009
NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser) rs373134516 0.00009
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) rs762370550 0.00009
NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu) rs369193825 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_013382.7(POMT2):c.1089C>T (p.Pro363=) rs540688610 0.00009
NM_013382.7(POMT2):c.1786-12A>G rs537415359 0.00009
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe) rs200690151 0.00009
NM_013382.7(POMT2):c.2033-16C>T rs1004073852 0.00009
NM_013382.7(POMT2):c.424A>G (p.Met142Val) rs148938943 0.00009
NM_013382.7(POMT2):c.700G>A (p.Val234Ile) rs576822260 0.00009
NM_013382.7(POMT2):c.844C>T (p.Arg282Cys) rs200204831 0.00009
NM_021971.4(GMPPB):c.129+7C>A rs748350135 0.00009
NM_021971.4(GMPPB):c.516C>T (p.Asn172=) rs147672249 0.00009
NM_021971.4(GMPPB):c.525G>T (p.Met175Ile) rs147966522 0.00009
NM_032237.5(POMK):c.33C>G (p.Gly11=) rs967238740 0.00009
NM_032237.5(POMK):c.732C>T (p.Cys244=) rs142479040 0.00009
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001077365.2(POMT1):c.1486+10C>T rs373393733 0.00008
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) rs147601415 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001079802.2(FKTN):c.*2984C>T rs886063332 0.00008
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu) rs374381691 0.00008
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly) rs370397489 0.00008
NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met) rs373422736 0.00008
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His) rs369489033 0.00008
NM_013382.7(POMT2):c.133C>T (p.Pro45Ser) rs780976004 0.00008
NM_013382.7(POMT2):c.1386A>C (p.Lys462Asn) rs567557121 0.00008
NM_013382.7(POMT2):c.29C>T (p.Ala10Val) rs183558313 0.00008
NM_013382.7(POMT2):c.439-16T>C rs747572959 0.00008
NM_021971.4(GMPPB):c.304G>C (p.Asp102His) rs368542417 0.00008
NM_021971.4(GMPPB):c.30T>C (p.Tyr10=) rs140509231 0.00008
NM_021971.4(GMPPB):c.459A>G (p.Thr153=) rs140968388 0.00008
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742 0.00008
NM_032237.5(POMK):c.222C>T (p.Cys74=) rs147680806 0.00008
NM_032237.5(POMK):c.704A>G (p.Asn235Ser) rs200742772 0.00008
NM_032237.5(POMK):c.910T>C (p.Phe304Leu) rs757744253 0.00008
NM_001077365.2(POMT1):c.1365+10C>T rs200089530 0.00007
NM_001077365.2(POMT1):c.1448G>A (p.Ser483Asn) rs750937093 0.00007
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met) rs201220016 0.00007
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=) rs376373313 0.00007
NM_001077365.2(POMT1):c.367G>T (p.Val123Leu) rs1424629668 0.00007
NM_001077365.2(POMT1):c.986+5G>A rs370096853 0.00007
NM_001101426.4(CRPPA):c.1170C>T (p.Asn390=) rs760178734 0.00007
NM_001101426.4(CRPPA):c.828T>C (p.Ile276=) rs201334104 0.00007
NM_013382.7(POMT2):c.1552G>A (p.Val518Met) rs200762716 0.00007
NM_013382.7(POMT2):c.1887T>G (p.Val629=) rs145942005 0.00007
NM_013382.7(POMT2):c.2032+7G>C rs371121278 0.00007
NM_021971.4(GMPPB):c.621A>G (p.Leu207=) rs369255307 0.00007
NM_032237.5(POMK):c.1024A>G (p.Met342Val) rs762404960 0.00007
NM_032237.5(POMK):c.219C>G (p.Ser73=) rs188920070 0.00007
NM_001077365.2(POMT1):c.*37G>A rs201474628 0.00006
NM_001077365.2(POMT1):c.1163G>A (p.Arg388His) rs138640226 0.00006
NM_001077365.2(POMT1):c.1251C>T (p.Pro417=) rs376749638 0.00006
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) rs369651101 0.00006
NM_001077365.2(POMT1):c.1486+9G>A rs547775333 0.00006
NM_001077365.2(POMT1):c.1698+7G>A rs367775263 0.00006
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=) rs778418119 0.00006
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133 0.00006
NM_001077365.2(POMT1):c.30G>A (p.Val10=) rs201533471 0.00006
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) rs371531181 0.00006
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203 0.00006
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_001079802.2(FKTN):c.*1845G>T rs886063328 0.00006
NM_001079802.2(FKTN):c.*2254A>G rs764218622 0.00006
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 0.00006
NM_001101426.4(CRPPA):c.226C>G (p.Leu76Val) rs939213590 0.00006
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293 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_013382.7(POMT2):c.1484+17T>C rs769039137 0.00006
NM_013382.7(POMT2):c.1485-3C>T rs754892193 0.00006
NM_013382.7(POMT2):c.1726-9A>G rs747493997 0.00006
NM_013382.7(POMT2):c.1785+20C>T rs371727483 0.00006
NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln) rs369365744 0.00006
NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser) rs767592155 0.00006
NM_013382.7(POMT2):c.2112G>A (p.Ala704=) rs548359755 0.00006
NM_013382.7(POMT2):c.237G>A (p.Pro79=) rs201322445 0.00006
NM_013382.7(POMT2):c.640A>C (p.Asn214His) rs376485603 0.00006
NM_013382.7(POMT2):c.657-18C>T rs759654244 0.00006
NM_013382.7(POMT2):c.936C>T (p.Asp312=) rs186690580 0.00006
NM_021971.4(GMPPB):c.554G>A (p.Arg185His) rs755165049 0.00006
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp) rs142908436 0.00006
NM_021971.4(GMPPB):c.869C>T (p.Thr290Met) rs139668958 0.00006
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser) rs777245868 0.00006
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) rs746905689 0.00006
NM_024301.5(FKRP):c.563C>T (p.Ala188Val) rs768762059 0.00006
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu) rs750041378 0.00006
NM_024301.5(FKRP):c.633G>A (p.Ser211=) rs921883036 0.00006
NM_032237.5(POMK):c.407C>T (p.Thr136Met) rs138216719 0.00006
NM_032237.5(POMK):c.701T>C (p.Val234Ala) rs185390123 0.00006
NM_032237.5(POMK):c.726G>A (p.Val242=) rs779226611 0.00006
NM_032237.5(POMK):c.978C>T (p.Asp326=) rs377648307 0.00006
NM_001077365.2(POMT1):c.1366-6C>T rs781702944 0.00005
NM_001077365.2(POMT1):c.1444G>A (p.Gly482Arg) rs372354077 0.00005
NM_001077365.2(POMT1):c.1487-5G>T rs747783069 0.00005
NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val) rs374402055 0.00005
NM_001077365.2(POMT1):c.1823A>G (p.Gln608Arg) rs145021255 0.00005
NM_001077365.2(POMT1):c.1825+17C>T rs200195080 0.00005
NM_001077365.2(POMT1):c.1866C>T (p.Ala622=) rs200652115 0.00005
NM_001077365.2(POMT1):c.198G>A (p.Pro66=) rs369877185 0.00005
NM_001077365.2(POMT1):c.389A>C (p.His130Pro) rs752880907 0.00005
NM_001077365.2(POMT1):c.425T>C (p.Ile142Thr) rs746950128 0.00005
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627 0.00005
NM_001079802.2(FKTN):c.*954T>A rs886063323 0.00005
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939 0.00005
NM_001101426.4(CRPPA):c.255G>A (p.Glu85=) rs886042759 0.00005
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001101426.4(CRPPA):c.42G>T (p.Pro14=) rs1332918116 0.00005
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr) rs374054216 0.00005
NM_001101426.4(CRPPA):c.835+2T>C rs773325665 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_013382.7(POMT2):c.1124C>T (p.Thr375Ile) rs542912704 0.00005
NM_013382.7(POMT2):c.1127A>G (p.Tyr376Cys) rs1180170796 0.00005
NM_013382.7(POMT2):c.1733G>A (p.Arg578His) rs571330846 0.00005
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln) rs200163818 0.00005
NM_013382.7(POMT2):c.2148-15G>C rs777010788 0.00005
NM_013382.7(POMT2):c.339G>A (p.Leu113=) rs907279495 0.00005
NM_013382.7(POMT2):c.621G>A (p.Met207Ile) rs551885065 0.00005
NM_013382.7(POMT2):c.871C>G (p.Leu291Val) rs764015186 0.00005
NM_021971.4(GMPPB):c.160A>C (p.Ser54Arg) rs145671483 0.00005
NM_021971.4(GMPPB):c.952-14A>G rs747845961 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 0.00005
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971 0.00005
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu) rs375326964 0.00005
NM_024301.5(FKRP):c.295G>A (p.Val99Met) rs776733780 0.00005
NM_032237.5(POMK):c.256C>T (p.Arg86Cys) rs370978230 0.00005
NM_032237.5(POMK):c.968C>T (p.Thr323Ile) rs1029874324 0.00005
NM_001077365.2(POMT1):c.*68C>T rs773474667 0.00004
NM_001077365.2(POMT1):c.1175+13G>A rs777087288 0.00004
NM_001077365.2(POMT1):c.123-13T>G rs773958478 0.00004
NM_001077365.2(POMT1):c.123-6T>C rs201486083 0.00004
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621 0.00004
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg) rs376882399 0.00004
NM_001077365.2(POMT1):c.1485G>A (p.Ala495=) rs142211950 0.00004
NM_001077365.2(POMT1):c.1511G>A (p.Arg504Gln) rs370705614 0.00004
NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp) rs150899645 0.00004
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) rs794727208 0.00004
NM_001077365.2(POMT1):c.1990G>A (p.Asp664Asn) rs145635821 0.00004
NM_001077365.2(POMT1):c.2003+9G>A rs368975092 0.00004
NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val) rs769694503 0.00004
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) rs202202445 0.00004
NM_001077365.2(POMT1):c.310C>T (p.Leu104=) rs146982282 0.00004
NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe) rs141833028 0.00004
NM_001077365.2(POMT1):c.579A>G (p.Thr193=) rs775408856 0.00004
NM_001077365.2(POMT1):c.620G>A (p.Gly207Asp) rs765733801 0.00004
NM_001077365.2(POMT1):c.699+85C>G rs369000699 0.00004
NM_001077365.2(POMT1):c.699+86C>T rs775951652 0.00004
NM_001079802.2(FKTN):c.*1175C>T rs996474083 0.00004
NM_001079802.2(FKTN):c.-136A>G rs886063318 0.00004
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618 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_001101426.4(CRPPA):c.304A>G (p.Met102Val) rs763300192 0.00004
NM_001101426.4(CRPPA):c.307G>A (p.Glu103Lys) rs775902619 0.00004
NM_001101426.4(CRPPA):c.347G>A (p.Arg116His) rs748777770 0.00004
NM_001101426.4(CRPPA):c.789+9G>A rs375132134 0.00004
NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly) rs547473863 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.1017C>T (p.Tyr339=) rs1026361359 0.00004
NM_013382.7(POMT2):c.1081C>T (p.Leu361Phe) rs771509741 0.00004
NM_013382.7(POMT2):c.1106G>A (p.Arg369His) rs398124260 0.00004
NM_013382.7(POMT2):c.1142A>G (p.Tyr381Cys) rs375840897 0.00004
NM_013382.7(POMT2):c.1253+9A>G rs187294379 0.00004
NM_013382.7(POMT2):c.128A>G (p.Lys43Arg) rs745417690 0.00004
NM_013382.7(POMT2):c.1485-4A>C rs794727127 0.00004
NM_013382.7(POMT2):c.1654-10C>T rs754208063 0.00004
NM_013382.7(POMT2):c.1692G>A (p.Thr564=) rs183828175 0.00004
NM_013382.7(POMT2):c.1700C>T (p.Pro567Leu) rs376689848 0.00004
NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys) rs148466370 0.00004
NM_013382.7(POMT2):c.1785G>A (p.Pro595=) rs202237807 0.00004
NM_013382.7(POMT2):c.1913G>A (p.Arg638Gln) rs779390236 0.00004
NM_013382.7(POMT2):c.2013C>T (p.Leu671=) rs751776398 0.00004
NM_013382.7(POMT2):c.2058G>T (p.Arg686=) rs751651828 0.00004
NM_013382.7(POMT2):c.41T>C (p.Leu14Pro) rs777504929 0.00004
NM_013382.7(POMT2):c.61T>C (p.Cys21Arg) rs767316912 0.00004
NM_013382.7(POMT2):c.631G>A (p.Val211Ile) rs373139592 0.00004
NM_013382.7(POMT2):c.817-18G>A rs200104520 0.00004
NM_013382.7(POMT2):c.817-19C>T rs202191456 0.00004
NM_013382.7(POMT2):c.846T>A (p.Arg282=) rs750579071 0.00004
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_021971.4(GMPPB):c.953T>C (p.Val318Ala) rs559784211 0.00004
NM_024301.5(FKRP):c.1119C>A (p.Gly373=) rs370575962 0.00004
NM_024301.5(FKRP):c.1236C>T (p.His412=) rs201076863 0.00004
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) rs749109905 0.00004
NM_024301.5(FKRP):c.1407G>A (p.Leu469=) rs1351635868 0.00004
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter) rs1051900223 0.00004
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser) rs747511445 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491 0.00004
NM_024301.5(FKRP):c.569G>A (p.Arg190His) rs917645867 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_032237.5(POMK):c.142T>C (p.Ser48Pro) rs34466747 0.00004
NM_032237.5(POMK):c.236C>G (p.Thr79Arg) rs773908820 0.00004
NM_032237.5(POMK):c.363T>C (p.His121=) rs374766465 0.00004
NM_032237.5(POMK):c.773A>G (p.Gln258Arg) rs397509386 0.00004
NM_032237.5(POMK):c.796G>A (p.Val266Met) rs543448796 0.00004
NM_133642.5(LARGE1):c.1413C>A (p.Ser471Arg) rs376160270 0.00004
NM_001077365.2(POMT1):c.-30G>A rs780382988 0.00003
NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser) rs756531223 0.00003
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412 0.00003
NM_001077365.2(POMT1):c.111G>C (p.Pro37=) rs761641734 0.00003
NM_001077365.2(POMT1):c.1302C>T (p.Asp434=) rs568246978 0.00003
NM_001077365.2(POMT1):c.1366-11G>A rs1157478556 0.00003
NM_001077365.2(POMT1):c.1366-12C>T rs757666938 0.00003
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=) rs727503872 0.00003
NM_001077365.2(POMT1):c.1584+10G>A rs377495957 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_001077365.2(POMT1):c.202T>C (p.Phe68Leu) rs138433752 0.00003
NM_001077365.2(POMT1):c.2032G>A (p.Ala678Thr) rs747903773 0.00003
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598 0.00003
NM_001077365.2(POMT1):c.291C>T (p.Ser97=) rs780884926 0.00003
NM_001077365.2(POMT1):c.294C>T (p.Asn98=) rs745810979 0.00003
NM_001077365.2(POMT1):c.328C>T (p.Leu110Phe) rs1338443127 0.00003
NM_001077365.2(POMT1):c.600A>G (p.Ala200=) rs755854450 0.00003
NM_001077365.2(POMT1):c.630G>A (p.Thr210=) rs553160213 0.00003
NM_001077365.2(POMT1):c.634G>A (p.Val212Met) rs746119386 0.00003
NM_001077365.2(POMT1):c.699+72T>C rs200780140 0.00003
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277 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.1249G>A (p.Glu417Lys) rs765934383 0.00003
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys) rs759936979 0.00003
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln) rs753641411 0.00003
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_001101426.4(CRPPA):c.1120-10T>C rs200836986 0.00003
NM_001101426.4(CRPPA):c.1251+11T>C rs199790485 0.00003
NM_001101426.4(CRPPA):c.1264C>T (p.Leu422=) rs375514450 0.00003
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro) rs886043637 0.00003
NM_001101426.4(CRPPA):c.362A>G (p.Glu121Gly) rs757846188 0.00003
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His) rs566179705 0.00003
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter) rs370627877 0.00003
NM_001101426.4(CRPPA):c.695A>G (p.Tyr232Cys) rs200114996 0.00003
NM_001101426.4(CRPPA):c.815C>T (p.Ala272Val) rs765545106 0.00003
NM_001101426.4(CRPPA):c.827T>C (p.Ile276Thr) rs1314571093 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.1006+1G>A rs533916138 0.00003
NM_013382.7(POMT2):c.1121C>G (p.Thr374Ser) rs973161535 0.00003
NM_013382.7(POMT2):c.1135A>G (p.Lys379Glu) rs777172630 0.00003
NM_013382.7(POMT2):c.1290C>T (p.Ala430=) rs886043974 0.00003
NM_013382.7(POMT2):c.1320C>T (p.Thr440=) rs143342682 0.00003
NM_013382.7(POMT2):c.1653+4T>G rs555289061 0.00003
NM_013382.7(POMT2):c.1725+4G>A rs758851815 0.00003
NM_013382.7(POMT2):c.1743G>A (p.Gly581=) rs755254043 0.00003
NM_013382.7(POMT2):c.1932G>A (p.Leu644=) rs760608239 0.00003
NM_013382.7(POMT2):c.2040G>A (p.Leu680=) rs951171938 0.00003
NM_013382.7(POMT2):c.2072G>T (p.Gly691Val) rs758678348 0.00003
NM_013382.7(POMT2):c.248+9T>C rs754261430 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_013382.7(POMT2):c.553G>A (p.Gly185Arg) rs886050826 0.00003
NM_013382.7(POMT2):c.599T>C (p.Met200Thr) rs921045202 0.00003
NM_013382.7(POMT2):c.769A>G (p.Thr257Ala) rs371988132 0.00003
NM_013382.7(POMT2):c.795C>T (p.Phe265=) rs765276419 0.00003
NM_013382.7(POMT2):c.925G>A (p.Gly309Ser) rs376046816 0.00003
NM_021971.4(GMPPB):c.198A>C (p.Ala66=) rs889957809 0.00003
NM_021971.4(GMPPB):c.211-7C>T rs201109088 0.00003
NM_021971.4(GMPPB):c.449A>T (p.Glu150Val) rs1185784683 0.00003
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile) rs202013297 0.00003
NM_021971.4(GMPPB):c.486G>A (p.Lys162=) rs144305518 0.00003
NM_021971.4(GMPPB):c.531C>A (p.Ile177=) rs140427047 0.00003
NM_021971.4(GMPPB):c.573G>A (p.Thr191=) rs775798814 0.00003
NM_021971.4(GMPPB):c.594C>T (p.Phe198=) rs148249248 0.00003
NM_021971.4(GMPPB):c.760G>A (p.Val254Met) rs875989850 0.00003
NM_021971.4(GMPPB):c.769-9C>T rs781777729 0.00003
NM_021971.4(GMPPB):c.786C>T (p.Ile262=) rs201123231 0.00003
NM_021971.4(GMPPB):c.812A>G (p.Asn271Ser) rs370840899 0.00003
NM_021971.4(GMPPB):c.937C>T (p.Arg313Cys) rs144421130 0.00003
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) rs369666163 0.00003
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro) rs936866997 0.00003
NM_024301.5(FKRP):c.395G>C (p.Gly132Ala) rs755588907 0.00003
NM_024301.5(FKRP):c.446G>A (p.Arg149His) rs1449983261 0.00003
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro) rs1318966349 0.00003
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys) rs201951207 0.00003
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser) rs959679901 0.00003
NM_024301.5(FKRP):c.797C>T (p.Ala266Val) rs1276654268 0.00003
NM_032237.5(POMK):c.114C>T (p.Leu38=) rs182189714 0.00003
NM_032237.5(POMK):c.129C>T (p.Ile43=) rs761324803 0.00003
NM_032237.5(POMK):c.715G>A (p.Gly239Arg) rs35104071 0.00003
NM_032237.5(POMK):c.774A>G (p.Gln258=) rs759091832 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.1109C>T (p.Pro370Leu) rs376258733 0.00002
NM_001077365.2(POMT1):c.1127G>A (p.Gly376Glu) rs761293717 0.00002
NM_001077365.2(POMT1):c.1176-17C>T rs748114656 0.00002
NM_001077365.2(POMT1):c.1196del (p.Leu399fs) rs768144522 0.00002
NM_001077365.2(POMT1):c.123-20G>T rs746071589 0.00002
NM_001077365.2(POMT1):c.1272+17C>T rs544783137 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) rs752384050 0.00002
NM_001077365.2(POMT1):c.141T>C (p.Tyr47=) rs752941420 0.00002
NM_001077365.2(POMT1):c.1432C>T (p.Arg478Trp) rs763756593 0.00002
NM_001077365.2(POMT1):c.1510C>T (p.Arg504Trp) rs151183697 0.00002
NM_001077365.2(POMT1):c.1627T>C (p.Tyr543His) rs1192384406 0.00002
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001077365.2(POMT1):c.1698+6C>T rs180847856 0.00002
NM_001077365.2(POMT1):c.1699-19A>G rs761855332 0.00002
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093 0.00002
NM_001077365.2(POMT1):c.1739C>T (p.Ser580Leu) rs755804404 0.00002
NM_001077365.2(POMT1):c.1763A>G (p.Tyr588Cys) rs772131719 0.00002
NM_001077365.2(POMT1):c.1826-16G>A rs781195768 0.00002
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr) rs773190071 0.00002
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg) rs119462983 0.00002
NM_001077365.2(POMT1):c.2027T>C (p.Phe676Ser) rs1201402718 0.00002
NM_001077365.2(POMT1):c.2064C>T (p.Cys688=) rs1335756801 0.00002
NM_001077365.2(POMT1):c.2084G>A (p.Arg695His) rs373402995 0.00002
NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg) rs912556508 0.00002
NM_001077365.2(POMT1):c.2114C>T (p.Ser705Leu) rs747343582 0.00002
NM_001077365.2(POMT1):c.247G>A (p.Asp83Asn) rs530211718 0.00002
NM_001077365.2(POMT1):c.36G>A (p.Thr12=) rs201262353 0.00002
NM_001077365.2(POMT1):c.401T>C (p.Met134Thr) rs780170650 0.00002
NM_001077365.2(POMT1):c.408T>G (p.Ala136=) rs748757994 0.00002
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer) rs746696167 0.00002
NM_001077365.2(POMT1):c.559T>C (p.Trp187Arg) rs919881583 0.00002
NM_001077365.2(POMT1):c.640G>A (p.Val214Met) rs778740383 0.00002
NM_001077365.2(POMT1):c.699+14T>A rs370038491 0.00002
NM_001077365.2(POMT1):c.699+27G>A rs374516244 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_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser) rs1429464723 0.00002
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr) rs772840681 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001101426.4(CRPPA):c.1120-19T>A rs773390529 0.00002
NM_001101426.4(CRPPA):c.161G>T (p.Gly54Val) rs587777797 0.00002
NM_001101426.4(CRPPA):c.171G>A (p.Gly57=) rs1032859096 0.00002
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr) rs1292380177 0.00002
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=) rs368815582 0.00002
NM_001101426.4(CRPPA):c.52C>T (p.Leu18=) rs886043287 0.00002
NM_001101426.4(CRPPA):c.594C>T (p.Cys198=) rs756333932 0.00002
NM_001101426.4(CRPPA):c.661G>A (p.Val221Met) rs749732549 0.00002
NM_001101426.4(CRPPA):c.789+13A>C rs773343225 0.00002
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=) rs766874330 0.00002
NM_013382.7(POMT2):c.*1053A>G rs886050817 0.00002
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1006C>T (p.His336Tyr) rs765103940 0.00002
NM_013382.7(POMT2):c.1018G>A (p.Gly340Ser) rs778014493 0.00002
NM_013382.7(POMT2):c.1029C>T (p.Ile343=) rs758645178 0.00002
NM_013382.7(POMT2):c.1032T>C (p.Thr344=) rs748370238 0.00002
NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln) rs756055923 0.00002
NM_013382.7(POMT2):c.1105C>T (p.Arg369Cys) rs779190087 0.00002
NM_013382.7(POMT2):c.1192G>C (p.Asp398His) rs145933402 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp) rs768256055 0.00002
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln) rs757110456 0.00002
NM_013382.7(POMT2):c.1620G>A (p.Glu540=) rs886043258 0.00002
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp) rs751153662 0.00002
NM_013382.7(POMT2):c.1653+5G>T rs755390432 0.00002
NM_013382.7(POMT2):c.1654-8T>G rs780532724 0.00002
NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser) rs771812476 0.00002
NM_013382.7(POMT2):c.1786-5C>G rs369026034 0.00002
NM_013382.7(POMT2):c.1927G>C (p.Val643Leu) rs966965226 0.00002
NM_013382.7(POMT2):c.1977G>C (p.Arg659=) rs746640722 0.00002
NM_013382.7(POMT2):c.2148-6T>A rs1242617887 0.00002
NM_013382.7(POMT2):c.248+5G>C rs587777816 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu) rs750346960 0.00002
NM_013382.7(POMT2):c.548-17G>A rs775177109 0.00002
NM_013382.7(POMT2):c.548-18C>T rs762471841 0.00002
NM_013382.7(POMT2):c.672C>T (p.Pro224=) rs147619625 0.00002
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg) rs761773211 0.00002
NM_013382.7(POMT2):c.807T>G (p.Ser269Arg) rs755782894 0.00002
NM_013382.7(POMT2):c.816+8C>T rs187166139 0.00002
NM_013382.7(POMT2):c.856C>T (p.Leu286Phe) rs375363915 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_013382.7(POMT2):c.886G>A (p.Ala296Thr) rs762885008 0.00002
NM_021971.4(GMPPB):c.1016A>G (p.Asn339Ser) rs753014812 0.00002
NM_021971.4(GMPPB):c.130-16G>T rs201729050 0.00002
NM_021971.4(GMPPB):c.211-10T>G rs539632278 0.00002
NM_021971.4(GMPPB):c.260-5C>T rs762790429 0.00002
NM_021971.4(GMPPB):c.432C>T (p.Tyr144=) rs779522830 0.00002
NM_021971.4(GMPPB):c.562-10A>G rs769914373 0.00002
NM_021971.4(GMPPB):c.697C>T (p.Leu233=) rs772099238 0.00002
NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp) rs771028755 0.00002
NM_021971.4(GMPPB):c.759C>T (p.Asn253=) rs1032078654 0.00002
NM_021971.4(GMPPB):c.893G>A (p.Arg298His) rs766498097 0.00002
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys) rs371188899 0.00002
NM_021971.4(GMPPB):c.966C>T (p.Asn322=) rs781114909 0.00002
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala) rs1060502112 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00002
NM_024301.5(FKRP):c.434T>G (p.Val145Gly) rs745681948 0.00002
NM_024301.5(FKRP):c.483C>T (p.Ala161=) rs797045576 0.00002
NM_024301.5(FKRP):c.554C>T (p.Ala185Val) rs1032563159 0.00002
NM_024301.5(FKRP):c.628C>G (p.Leu210Val) rs778472624 0.00002
NM_024301.5(FKRP):c.725C>T (p.Ala242Val) rs1298321836 0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219 0.00002
NM_024301.5(FKRP):c.85C>T (p.His29Tyr) rs886043192 0.00002
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala) rs921829148 0.00002
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp) rs1365712686 0.00002
NM_032237.5(POMK):c.170A>G (p.Tyr57Cys) rs372826172 0.00002
NM_032237.5(POMK):c.457C>T (p.Pro153Ser) rs140899970 0.00002
NM_032237.5(POMK):c.55C>T (p.Pro19Ser) rs754284268 0.00002
NM_032237.5(POMK):c.66G>T (p.Gly22=) rs778266586 0.00002
NM_032237.5(POMK):c.681C>T (p.Asp227=) rs765987803 0.00002
NM_032237.5(POMK):c.687C>T (p.Asp229=) rs751085294 0.00002
NM_032237.5(POMK):c.68T>C (p.Leu23Pro) rs200277006 0.00002
NM_032237.5(POMK):c.807C>T (p.His269=) rs754174652 0.00002
NM_032237.5(POMK):c.82G>T (p.Ala28Ser) rs201506618 0.00002
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983 0.00002
NM_032237.5(POMK):c.908G>A (p.Arg303Gln) rs370946940 0.00002
NM_001077365.2(POMT1):c.1014C>T (p.His338=) rs886043203 0.00001
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter) rs756973046 0.00001
NM_001077365.2(POMT1):c.1036C>T (p.Pro346Ser) rs1353274622 0.00001
NM_001077365.2(POMT1):c.1063A>G (p.Ile355Val) rs749853448 0.00001
NM_001077365.2(POMT1):c.1068A>G (p.Val356=) rs1280401262 0.00001
NM_001077365.2(POMT1):c.1074T>A (p.Asp358Glu) rs765263668 0.00001
NM_001077365.2(POMT1):c.1082+19A>G rs1454823245 0.00001
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=) rs771523115 0.00001
NM_001077365.2(POMT1):c.1129G>A (p.Asp377Asn) rs886044066 0.00001
NM_001077365.2(POMT1):c.1166C>T (p.Ser389Phe) rs201587241 0.00001
NM_001077365.2(POMT1):c.1167C>T (p.Ser389=) rs1210555820 0.00001
NM_001077365.2(POMT1):c.1175+1G>A rs1051679985 0.00001
NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met) rs397515400 0.00001
NM_001077365.2(POMT1):c.1176-2A>G rs746523421 0.00001
NM_001077365.2(POMT1):c.1193C>T (p.Pro398Leu) rs776388419 0.00001
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615 0.00001
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr) rs149575164 0.00001
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter) rs745509085 0.00001
NM_001077365.2(POMT1):c.1281G>A (p.Val427=) rs139720304 0.00001
NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys) rs1397478363 0.00001
NM_001077365.2(POMT1):c.1331G>A (p.Arg444His) rs758736387 0.00001
NM_001077365.2(POMT1):c.1341C>T (p.His447=) rs200731790 0.00001
NM_001077365.2(POMT1):c.1353C>A (p.Ser451=) rs144385159 0.00001
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr) rs150702948 0.00001
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile) rs1008021925 0.00001
NM_001077365.2(POMT1):c.1371C>T (p.Ser457=) rs746412899 0.00001
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser) rs746849558 0.00001
NM_001077365.2(POMT1):c.1414G>A (p.Val472Ile) rs943420374 0.00001
NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln) rs1386572159 0.00001
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150 0.00001
NM_001077365.2(POMT1):c.1452G>A (p.Thr484=) rs145164375 0.00001
NM_001077365.2(POMT1):c.1462G>A (p.Val488Met) rs748365119 0.00001
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) rs119462985 0.00001
NM_001077365.2(POMT1):c.1480G>A (p.Gly494Ser) rs200204923 0.00001
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val) rs761439623 0.00001
NM_001077365.2(POMT1):c.1486+11G>A rs755682718 0.00001
NM_001077365.2(POMT1):c.1490_1498del (p.Gln497_Gln499del) rs763262424 0.00001
NM_001077365.2(POMT1):c.1505G>A (p.Arg502Gln) rs1174599967 0.00001
NM_001077365.2(POMT1):c.1528G>A (p.Ala510Thr) rs1276417965 0.00001
NM_001077365.2(POMT1):c.1548G>C (p.Arg516Ser) rs1471379936 0.00001
NM_001077365.2(POMT1):c.1574C>T (p.Ser525Leu) rs1018748368 0.00001
NM_001077365.2(POMT1):c.1575G>A (p.Ser525=) rs753468585 0.00001
NM_001077365.2(POMT1):c.1584+9C>T rs1219705170 0.00001
NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu) rs754907726 0.00001
NM_001077365.2(POMT1):c.1617G>A (p.Ser539=) rs778687698 0.00001
NM_001077365.2(POMT1):c.1668T>C (p.Asn556=) rs1445855043 0.00001
NM_001077365.2(POMT1):c.1758C>T (p.Ala586=) rs373374873 0.00001
NM_001077365.2(POMT1):c.1764C>T (p.Tyr588=) rs773343894 0.00001
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr) rs747138675 0.00001
NM_001077365.2(POMT1):c.1773G>A (p.Leu591=) rs762810201 0.00001
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter) rs761848742 0.00001
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln) rs367709136 0.00001
NM_001077365.2(POMT1):c.1825+6T>C rs1366898427 0.00001
NM_001077365.2(POMT1):c.1837C>T (p.Arg613Cys) rs759135168 0.00001
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645 0.00001
NM_001077365.2(POMT1):c.1893G>A (p.Pro631=) rs749582742 0.00001
NM_001077365.2(POMT1):c.1938C>T (p.Pro646=) rs1481940320 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001077365.2(POMT1):c.1989C>T (p.Ser663=) rs764451132 0.00001
NM_001077365.2(POMT1):c.1995C>T (p.His665=) rs768108650 0.00001
NM_001077365.2(POMT1):c.2003+4C>T rs766635497 0.00001
NM_001077365.2(POMT1):c.2004-19G>A rs757031997 0.00001
NM_001077365.2(POMT1):c.2058C>T (p.Ser686=) rs886043948 0.00001
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met) rs150209587 0.00001
NM_001077365.2(POMT1):c.2078C>T (p.Thr693Met) rs767241035 0.00001
NM_001077365.2(POMT1):c.2079G>A (p.Thr693=) rs200603905 0.00001
NM_001077365.2(POMT1):c.2096A>G (p.Tyr699Cys) rs754444374 0.00001
NM_001077365.2(POMT1):c.2123A>T (p.Glu708Val) rs975505270 0.00001
NM_001077365.2(POMT1):c.280+1G>T rs746823238 0.00001
NM_001077365.2(POMT1):c.301G>C (p.Val101Leu) rs199552424 0.00001
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys) rs1289335417 0.00001
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285 0.00001
NM_001077365.2(POMT1):c.426C>T (p.Ile142=) rs771390000 0.00001
NM_001077365.2(POMT1):c.427+11C>T rs765291250 0.00001
NM_001077365.2(POMT1):c.427+8C>T rs201727519 0.00001
NM_001077365.2(POMT1):c.499G>A (p.Val167Met) rs757875244 0.00001
NM_001077365.2(POMT1):c.516G>T (p.Lys172Asn) rs1439661209 0.00001
NM_001077365.2(POMT1):c.52A>C (p.Ser18Arg) rs779386306 0.00001
NM_001077365.2(POMT1):c.539+13G>T rs749842555 0.00001
NM_001077365.2(POMT1):c.539+3A>G rs780457748 0.00001
NM_001077365.2(POMT1):c.572C>T (p.Thr191Ile) rs1344992449 0.00001
NM_001077365.2(POMT1):c.585C>T (p.Val195=) rs764110407 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.605+1G>T rs766648827 0.00001
NM_001077365.2(POMT1):c.606-9T>C rs760178838 0.00001
NM_001077365.2(POMT1):c.614A>G (p.Tyr205Cys) rs1312643563 0.00001
NM_001077365.2(POMT1):c.639C>T (p.Leu213=) rs267602149 0.00001
NM_001077365.2(POMT1):c.650T>G (p.Val217Gly) rs1364769689 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001077365.2(POMT1):c.699+32C>T rs201225383 0.00001
NM_001077365.2(POMT1):c.699+33G>A rs750646014 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.700G>A (p.Val234Ile) rs755248350 0.00001
NM_001077365.2(POMT1):c.721C>G (p.Leu241Val) rs374335795 0.00001
NM_001077365.2(POMT1):c.723C>T (p.Leu241=) rs765290860 0.00001
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679 0.00001
NM_001077365.2(POMT1):c.753G>A (p.Pro251=) rs748485512 0.00001
NM_001077365.2(POMT1):c.756C>A (p.Val252=) rs1286632929 0.00001
NM_001077365.2(POMT1):c.774C>T (p.Phe258=) rs761217834 0.00001
NM_001077365.2(POMT1):c.780C>T (p.Tyr260=) rs776755041 0.00001
NM_001077365.2(POMT1):c.783C>T (p.Val261=) rs765387571 0.00001
NM_001077365.2(POMT1):c.816C>T (p.His272=) rs191404622 0.00001
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981 0.00001
NM_001077365.2(POMT1):c.86G>T (p.Ser29Ile) rs771234098 0.00001
NM_001077365.2(POMT1):c.908C>T (p.Ser303Phe) rs1415622281 0.00001
NM_001077365.2(POMT1):c.917C>T (p.Thr306Ile) rs1377535146 0.00001
NM_001077365.2(POMT1):c.919C>T (p.Leu307=) rs983634068 0.00001
NM_001077365.2(POMT1):c.934G>A (p.Gly312Arg) rs1428763564 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.*1276C>T rs886063325 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.1129_1130del (p.Met377fs) rs1554761402 0.00001
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser) rs727502849 0.00001
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=) rs886063320 0.00001
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg) rs1833937117 0.00001
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=) rs912930168 0.00001
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=) rs904253784 0.00001
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs) rs775366895 0.00001
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990 0.00001
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319 0.00001
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991 0.00001
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365 0.00001
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512 0.00001
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690 0.00001
NM_001079802.2(FKTN):c.526T>G (p.Phe176Val) rs746813994 0.00001
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499 0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 0.00001
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947 0.00001
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu) rs878854165 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992 0.00001
NM_001101426.4(CRPPA):c.1045C>A (p.Gln349Lys) rs774852908 0.00001
NM_001101426.4(CRPPA):c.1092C>T (p.Cys364=) rs1418861315 0.00001
NM_001101426.4(CRPPA):c.1120-4G>A rs886042445 0.00001
NM_001101426.4(CRPPA):c.1128T>C (p.Phe376=) rs1403975634 0.00001
NM_001101426.4(CRPPA):c.1146A>G (p.Val382=) rs746837359 0.00001
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr) rs762217429 0.00001
NM_001101426.4(CRPPA):c.1194A>T (p.Ala398=) rs769147263 0.00001
NM_001101426.4(CRPPA):c.1226A>G (p.Tyr409Cys) rs1325845862 0.00001
NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val) rs747967711 0.00001
NM_001101426.4(CRPPA):c.1251+19T>A rs751907599 0.00001
NM_001101426.4(CRPPA):c.1251+2T>C rs370373583 0.00001
NM_001101426.4(CRPPA):c.1282C>A (p.Gln428Lys) rs985567350 0.00001
NM_001101426.4(CRPPA):c.12G>A (p.Gly4=) rs1284386964 0.00001
NM_001101426.4(CRPPA):c.1301C>T (p.Ala434Val) rs886044370 0.00001
NM_001101426.4(CRPPA):c.1305A>G (p.Ser435=) rs1027005660 0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_001101426.4(CRPPA):c.136G>C (p.Ala46Pro) rs886043286 0.00001
NM_001101426.4(CRPPA):c.139G>A (p.Val47Met) rs886043960 0.00001
NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser) rs1037010291 0.00001
NM_001101426.4(CRPPA):c.189C>T (p.Pro63=) rs1788325301 0.00001
NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr) rs886042489 0.00001
NM_001101426.4(CRPPA):c.1A>G (p.Met1Val) rs886043573 0.00001
NM_001101426.4(CRPPA):c.231C>T (p.Ile77=) rs1271300165 0.00001
NM_001101426.4(CRPPA):c.240C>T (p.Thr80=) rs1281024369 0.00001
NM_001101426.4(CRPPA):c.257+10C>A rs1391659845 0.00001
NM_001101426.4(CRPPA):c.257+17C>T rs895474080 0.00001
NM_001101426.4(CRPPA):c.283G>T (p.Val95Leu) rs751704613 0.00001
NM_001101426.4(CRPPA):c.315G>A (p.Met105Ile) rs1190661385 0.00001
NM_001101426.4(CRPPA):c.332A>G (p.Lys111Arg) rs373082181 0.00001
NM_001101426.4(CRPPA):c.361G>A (p.Glu121Lys) rs764542382 0.00001
NM_001101426.4(CRPPA):c.37G>A (p.Glu13Lys) rs1403508868 0.00001
NM_001101426.4(CRPPA):c.382A>C (p.Arg128=) rs765435429 0.00001
NM_001101426.4(CRPPA):c.409C>G (p.Leu137Val) rs769346091 0.00001
NM_001101426.4(CRPPA):c.498C>A (p.Val166=) rs774132708 0.00001
NM_001101426.4(CRPPA):c.533G>C (p.Gly178Ala) rs747435762 0.00001
NM_001101426.4(CRPPA):c.547A>G (p.Ile183Val) rs1330602558 0.00001
NM_001101426.4(CRPPA):c.550C>T (p.Arg184Ter) rs370499190 0.00001
NM_001101426.4(CRPPA):c.570C>T (p.Val190=) rs1170483329 0.00001
NM_001101426.4(CRPPA):c.571G>A (p.Val191Ile) rs757165158 0.00001
NM_001101426.4(CRPPA):c.58G>A (p.Gly20Ser) rs920749386 0.00001
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) rs1008210645 0.00001
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) rs532057629 0.00001
NM_001101426.4(CRPPA):c.658G>C (p.Asp220His) rs1210618248 0.00001
NM_001101426.4(CRPPA):c.676T>C (p.Tyr226His) rs1282788711 0.00001
NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys) rs1289931198 0.00001
NM_001101426.4(CRPPA):c.685-3C>T rs776027620 0.00001
NM_001101426.4(CRPPA):c.715G>A (p.Glu239Lys) rs778786691 0.00001
NM_001101426.4(CRPPA):c.765A>G (p.Val255=) rs372514498 0.00001
NM_001101426.4(CRPPA):c.7G>C (p.Ala3Pro) rs794726893 0.00001
NM_001101426.4(CRPPA):c.803G>A (p.Arg268Gln) rs757986706 0.00001
NM_001101426.4(CRPPA):c.836-9T>A rs754223084 0.00001
NM_001101426.4(CRPPA):c.839G>T (p.Arg280Ile) rs761189549 0.00001
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=) rs148054819 0.00001
NM_001101426.4(CRPPA):c.890A>C (p.His297Pro) rs1562603563 0.00001
NM_001101426.4(CRPPA):c.899A>G (p.His300Arg) rs1345477841 0.00001
NM_001101426.4(CRPPA):c.905T>C (p.Leu302Pro) rs747622460 0.00001
NM_001101426.4(CRPPA):c.909A>G (p.Glu303=) rs778599626 0.00001
NM_001101426.4(CRPPA):c.933+3A>G rs377582530 0.00001
NM_001101426.4(CRPPA):c.934-9T>C rs771988779 0.00001
NM_001101426.4(CRPPA):c.935A>G (p.His312Arg) rs555932095 0.00001
NM_001101426.4(CRPPA):c.948A>G (p.Thr316=) rs780620823 0.00001
NM_001101426.4(CRPPA):c.951T>C (p.Ser317=) rs1188081832 0.00001
NM_001101426.4(CRPPA):c.95T>C (p.Leu32Pro) rs1020950940 0.00001
NM_001101426.4(CRPPA):c.972C>A (p.Gly324=) rs370052768 0.00001
NM_001101426.4(CRPPA):c.993C>G (p.Ile331Met) rs1783720553 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.101C>T (p.Ala34Val) rs768585252 0.00001
NM_013382.7(POMT2):c.1033G>C (p.Val345Leu) rs779053591 0.00001
NM_013382.7(POMT2):c.1042C>G (p.Leu348Val) rs1158227625 0.00001
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser) rs267606970 0.00001
NM_013382.7(POMT2):c.1061A>C (p.Tyr354Ser) rs751206357 0.00001
NM_013382.7(POMT2):c.1080C>T (p.His360=) rs776866129 0.00001
NM_013382.7(POMT2):c.1094G>A (p.Gly365Asp) rs139830891 0.00001
NM_013382.7(POMT2):c.1116+4A>G rs779844724 0.00001
NM_013382.7(POMT2):c.1183+6G>C rs1381239018 0.00001
NM_013382.7(POMT2):c.1184-14T>C rs199871120 0.00001
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) rs764723711 0.00001
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val) rs886043224 0.00001
NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter) rs773017813 0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.1253+1G>A rs1475161693 0.00001
NM_013382.7(POMT2):c.1254-7C>T rs753987994 0.00001
NM_013382.7(POMT2):c.125C>T (p.Pro42Leu) rs912884835 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.1332+14G>A rs750144868 0.00001
NM_013382.7(POMT2):c.1332+4A>G rs1201960470 0.00001
NM_013382.7(POMT2):c.1407G>T (p.Val469=) rs886042679 0.00001
NM_013382.7(POMT2):c.1410G>A (p.Leu470=) rs1890394018 0.00001
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter) rs368817785 0.00001
NM_013382.7(POMT2):c.1418G>A (p.Arg473Gln) rs1279458453 0.00001
NM_013382.7(POMT2):c.1424G>A (p.Arg475His) rs200976246 0.00001
NM_013382.7(POMT2):c.1433A>G (p.His478Arg) rs765346043 0.00001
NM_013382.7(POMT2):c.1451T>C (p.Val484Ala) rs761917543 0.00001
NM_013382.7(POMT2):c.1484+14G>A rs1263576526 0.00001
NM_013382.7(POMT2):c.1484+9C>G rs760349322 0.00001
NM_013382.7(POMT2):c.1485-2_1485-1del rs1185491348 0.00001
NM_013382.7(POMT2):c.1497G>C (p.Gln499His) rs141248257 0.00001
NM_013382.7(POMT2):c.1512C>T (p.Cys504=) rs775728269 0.00001
NM_013382.7(POMT2):c.1518A>G (p.Pro506=) rs1380319239 0.00001
NM_013382.7(POMT2):c.1528G>A (p.Glu510Lys) rs186872560 0.00001
NM_013382.7(POMT2):c.1609A>G (p.Ser537Gly) rs1340953706 0.00001
NM_013382.7(POMT2):c.160G>T (p.Ala54Ser) rs1239345534 0.00001
NM_013382.7(POMT2):c.1659C>T (p.Asn553=) rs534663839 0.00001
NM_013382.7(POMT2):c.1667T>C (p.Leu556Pro) rs1890178559 0.00001
NM_013382.7(POMT2):c.1681A>G (p.Asn561Asp) rs1006561976 0.00001
NM_013382.7(POMT2):c.1726-15G>C rs1057524013 0.00001
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter) rs766169193 0.00001
NM_013382.7(POMT2):c.1769A>G (p.Tyr590Cys) rs1566644163 0.00001
NM_013382.7(POMT2):c.177C>T (p.Ala59=) rs761956817 0.00001
NM_013382.7(POMT2):c.1786-8C>T rs953851097 0.00001
NM_013382.7(POMT2):c.1790T>C (p.Val597Ala) rs1171196217 0.00001
NM_013382.7(POMT2):c.181C>T (p.Leu61=) rs774150334 0.00001
NM_013382.7(POMT2):c.1824C>T (p.Tyr608=) rs759220971 0.00001
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp) rs749335757 0.00001
NM_013382.7(POMT2):c.1873C>T (p.Leu625=) rs1393855564 0.00001
NM_013382.7(POMT2):c.1877C>T (p.Pro626Leu) rs1262591820 0.00001
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter) rs119463989 0.00001
NM_013382.7(POMT2):c.1959G>A (p.Pro653=) rs775222771 0.00001
NM_013382.7(POMT2):c.1961T>G (p.Phe654Cys) rs769782374 0.00001
NM_013382.7(POMT2):c.196C>T (p.Leu66=) rs528060377 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.2011C>T (p.Leu671Phe) rs200079313 0.00001
NM_013382.7(POMT2):c.2032+19G>A rs1300533131 0.00001
NM_013382.7(POMT2):c.2033-20G>A rs1057524128 0.00001
NM_013382.7(POMT2):c.2046C>T (p.Asp682=) rs746369367 0.00001
NM_013382.7(POMT2):c.2087C>T (p.Pro696Leu) rs1449000965 0.00001
NM_013382.7(POMT2):c.209C>T (p.Ala70Val) rs1891834567 0.00001
NM_013382.7(POMT2):c.20G>A (p.Gly7Glu) rs763325075 0.00001
NM_013382.7(POMT2):c.2100C>A (p.Gly700=) rs905496812 0.00001
NM_013382.7(POMT2):c.2108T>C (p.Val703Ala) rs770189006 0.00001
NM_013382.7(POMT2):c.2111C>T (p.Ala704Val) rs746221148 0.00001
NM_013382.7(POMT2):c.2116A>G (p.Ile706Val) rs1352547589 0.00001
NM_013382.7(POMT2):c.2147+5G>C rs1360206873 0.00001
NM_013382.7(POMT2):c.2147+7A>C rs1472805344 0.00001
NM_013382.7(POMT2):c.2147+9C>T rs1253447533 0.00001
NM_013382.7(POMT2):c.216C>T (p.Arg72=) rs1891833559 0.00001
NM_013382.7(POMT2):c.2171C>T (p.Ala724Val) rs1413994990 0.00001
NM_013382.7(POMT2):c.2176G>A (p.Gly726Arg) rs1471500386 0.00001
NM_013382.7(POMT2):c.224G>A (p.Arg75His) rs1200964688 0.00001
NM_013382.7(POMT2):c.2250T>C (p.Phe750=) rs1890006083 0.00001
NM_013382.7(POMT2):c.227T>C (p.Leu76Ser) rs1349494437 0.00001
NM_013382.7(POMT2):c.240G>A (p.Pro80=) rs1346021636 0.00001
NM_013382.7(POMT2):c.244A>T (p.Ile82Phe) rs373944477 0.00001
NM_013382.7(POMT2):c.245T>A (p.Ile82Asn) rs563863191 0.00001
NM_013382.7(POMT2):c.248+1G>C rs961440747 0.00001
NM_013382.7(POMT2):c.248+20C>G rs1471456899 0.00001
NM_013382.7(POMT2):c.248+2T>C rs1326631351 0.00001
NM_013382.7(POMT2):c.258G>A (p.Glu86=) rs956763108 0.00001
NM_013382.7(POMT2):c.25C>G (p.Leu9Val) rs1280735533 0.00001
NM_013382.7(POMT2):c.275T>C (p.Met92Thr) rs775489616 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_013382.7(POMT2):c.37G>A (p.Glu13Lys) rs747244194 0.00001
NM_013382.7(POMT2):c.439-9C>T rs777960032 0.00001
NM_013382.7(POMT2):c.47C>G (p.Pro16Arg) rs778898705 0.00001
NM_013382.7(POMT2):c.480C>T (p.Tyr160=) rs1202494830 0.00001
NM_013382.7(POMT2):c.485C>T (p.Thr162Ile) rs753521608 0.00001
NM_013382.7(POMT2):c.486T>C (p.Thr162=) rs766222032 0.00001
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) rs753326186 0.00001
NM_013382.7(POMT2):c.547+17A>G rs1485846490 0.00001
NM_013382.7(POMT2):c.548-12C>T rs773717014 0.00001
NM_013382.7(POMT2):c.593T>A (p.Ile198Asn) rs267606972 0.00001
NM_013382.7(POMT2):c.613G>A (p.Ala205Thr) rs886043765 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_013382.7(POMT2):c.636G>A (p.Lys212=) rs368906346 0.00001
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter) rs764878423 0.00001
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00001
NM_013382.7(POMT2):c.660C>T (p.Pro220=) rs1377744438 0.00001
NM_013382.7(POMT2):c.661T>A (p.Phe221Ile) rs746803006 0.00001
NM_013382.7(POMT2):c.671C>G (p.Pro224Arg) rs771995900 0.00001
NM_013382.7(POMT2):c.685C>T (p.Leu229Phe) rs754512099 0.00001
NM_013382.7(POMT2):c.699C>T (p.Gly233=) rs375257656 0.00001
NM_013382.7(POMT2):c.69C>T (p.Pro23=) rs527728447 0.00001
NM_013382.7(POMT2):c.756A>G (p.Gln252=) rs766529891 0.00001
NM_013382.7(POMT2):c.762G>T (p.Gly254=) rs1457542706 0.00001
NM_013382.7(POMT2):c.774T>C (p.Ile258=) rs748022643 0.00001
NM_013382.7(POMT2):c.816+13G>A rs1283872799 0.00001
NM_013382.7(POMT2):c.825G>A (p.Val275=) rs779272258 0.00001
NM_013382.7(POMT2):c.845G>A (p.Arg282His) rs756132642 0.00001
NM_013382.7(POMT2):c.84C>T (p.Ala28=) rs771031903 0.00001
NM_013382.7(POMT2):c.890C>T (p.Thr297Ile) rs775548781 0.00001
NM_013382.7(POMT2):c.891C>A (p.Thr297=) rs769829396 0.00001
NM_013382.7(POMT2):c.924-5C>G rs570851802 0.00001
NM_013382.7(POMT2):c.924-6C>T rs764462802 0.00001
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter) rs775932206 0.00001
NM_013382.7(POMT2):c.961G>A (p.Ala321Thr) rs770147545 0.00001
NM_021971.4(GMPPB):c.1014C>T (p.Leu338=) rs756344903 0.00001
NM_021971.4(GMPPB):c.1027G>C (p.Val343Leu) rs1409825474 0.00001
NM_021971.4(GMPPB):c.1050C>A (p.Gly350=) rs746616705 0.00001
NM_021971.4(GMPPB):c.1070G>A (p.Arg357His) rs771861177 0.00001
NM_021971.4(GMPPB):c.118G>C (p.Ala40Pro) rs1445731992 0.00001
NM_021971.4(GMPPB):c.130-13T>C rs756852893 0.00001
NM_021971.4(GMPPB):c.130-6T>G rs369862012 0.00001
NM_021971.4(GMPPB):c.210+9C>T rs775118468 0.00001
NM_021971.4(GMPPB):c.210G>A (p.Arg70=) rs201795833 0.00001
NM_021971.4(GMPPB):c.211-20G>C rs1341824987 0.00001
NM_021971.4(GMPPB):c.215G>C (p.Gly72Ala) rs1245162935 0.00001
NM_021971.4(GMPPB):c.240A>G (p.Glu80=) rs1292996433 0.00001
NM_021971.4(GMPPB):c.294dup (p.Glu99Ter) rs1365085828 0.00001
NM_021971.4(GMPPB):c.300T>C (p.Thr100=) rs1269383125 0.00001
NM_021971.4(GMPPB):c.356C>A (p.Ala119Asp) rs1272084445 0.00001
NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys) rs145535498 0.00001
NM_021971.4(GMPPB):c.402+1G>A rs145564018 0.00001
NM_021971.4(GMPPB):c.402+8G>A rs374491667 0.00001
NM_021971.4(GMPPB):c.477C>T (p.Phe159=) rs756215708 0.00001
NM_021971.4(GMPPB):c.478G>A (p.Val160Met) rs752805529 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_021971.4(GMPPB):c.572C>T (p.Thr191Met) rs146287156 0.00001
NM_021971.4(GMPPB):c.578T>C (p.Ile193Thr) rs780301264 0.00001
NM_021971.4(GMPPB):c.596C>G (p.Pro199Arg) rs765573379 0.00001
NM_021971.4(GMPPB):c.629T>C (p.Met210Thr) rs759137392 0.00001
NM_021971.4(GMPPB):c.640+10G>C rs769641702 0.00001
NM_021971.4(GMPPB):c.640+19A>G rs1472999197 0.00001
NM_021971.4(GMPPB):c.672C>T (p.Asp224=) rs1247769949 0.00001
NM_021971.4(GMPPB):c.6G>A (p.Lys2=) rs1297069725 0.00001
NM_021971.4(GMPPB):c.70C>T (p.Pro24Ser) rs1310563727 0.00001
NM_021971.4(GMPPB):c.728G>A (p.Arg243Gln) rs749730219 0.00001
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys) rs746357591 0.00001
NM_021971.4(GMPPB):c.801C>T (p.Ser267=) rs752457623 0.00001
NM_021971.4(GMPPB):c.831C>T (p.Gly277=) rs763262592 0.00001
NM_021971.4(GMPPB):c.870G>A (p.Thr290=) rs778490288 0.00001
NM_021971.4(GMPPB):c.877C>T (p.Arg293Trp) rs756682220 0.00001
NM_021971.4(GMPPB):c.910G>A (p.Glu304Lys) rs762995747 0.00001
NM_021971.4(GMPPB):c.918C>T (p.Cys306=) rs1186936513 0.00001
NM_021971.4(GMPPB):c.91A>G (p.Lys31Glu) rs764625823 0.00001
NM_021971.4(GMPPB):c.938G>A (p.Arg313His) rs775910135 0.00001
NM_021971.4(GMPPB):c.951+7C>A rs973900671 0.00001
NM_021971.4(GMPPB):c.954A>G (p.Val318=) rs747818187 0.00001
NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys) rs780867515 0.00001
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu) rs397509426 0.00001
NM_021971.4(GMPPB):c.981T>C (p.Gly327=) rs779167148 0.00001
NM_021971.4(GMPPB):c.982G>A (p.Glu328Lys) rs1356812347 0.00001
NM_021971.4(GMPPB):c.987C>T (p.Asp329=) rs541447888 0.00001
NM_024301.5(FKRP):c.-253+4A>G rs2054592600 0.00001
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651 0.00001
NM_024301.5(FKRP):c.1060G>A (p.Gly354Arg) rs565499116 0.00001
NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu) rs781414509 0.00001
NM_024301.5(FKRP):c.106G>T (p.Ala36Ser) rs1412050261 0.00001
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser) rs1184684815 0.00001
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu) rs751586523 0.00001
NM_024301.5(FKRP):c.1167G>A (p.Glu389=) rs771708277 0.00001
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val) rs767570224 0.00001
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile) rs1471167981 0.00001
NM_024301.5(FKRP):c.119G>A (p.Arg40His) rs2054891509 0.00001
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter) rs772950604 0.00001
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser) rs376989573 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu) rs886044542 0.00001
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) rs747785577 0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) rs768606230 0.00001
NM_024301.5(FKRP):c.1397G>A (p.Arg466His) rs763422045 0.00001
NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys) rs752243337 0.00001
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800 0.00001
NM_024301.5(FKRP):c.1436A>G (p.Glu479Gly) rs1555739297 0.00001
NM_024301.5(FKRP):c.1477G>A (p.Gly493Arg) rs763299165 0.00001
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg) rs373244438 0.00001
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682 0.00001
NM_024301.5(FKRP):c.151G>A (p.Val51Ile) rs769377092 0.00001
NM_024301.5(FKRP):c.172G>A (p.Ala58Thr) rs751506122 0.00001
NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr) rs1311501368 0.00001
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter) rs1057520771 0.00001
NM_024301.5(FKRP):c.298C>T (p.Arg100Cys) rs1244445645 0.00001
NM_024301.5(FKRP):c.299G>A (p.Arg100His) rs1174581828 0.00001
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter) rs761821795 0.00001
NM_024301.5(FKRP):c.315G>T (p.Gln105His) rs765444642 0.00001
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser) rs1164727838 0.00001
NM_024301.5(FKRP):c.32C>T (p.Ala11Val) rs760295001 0.00001
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr) rs1060502106 0.00001
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp) rs398124392 0.00001
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile) rs1599935206 0.00001
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp) rs748272589 0.00001
NM_024301.5(FKRP):c.517G>A (p.Val173Ile) rs1322879846 0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261 0.00001
NM_024301.5(FKRP):c.551C>T (p.Ala184Val) rs1489408026 0.00001
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu) rs745619101 0.00001
NM_024301.5(FKRP):c.582G>A (p.Leu194=) rs771223960 0.00001
NM_024301.5(FKRP):c.677C>A (p.Thr226Asn) rs772380755 0.00001
NM_024301.5(FKRP):c.706C>G (p.Leu236Val) rs754347622 0.00001
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu) rs1320991574 0.00001
NM_024301.5(FKRP):c.809G>A (p.Arg270His) rs1025118379 0.00001
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu) rs1060502110 0.00001
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro) rs1435780847 0.00001
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala) rs963039919 0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692 0.00001
NM_024301.5(FKRP):c.920A>G (p.Tyr307Cys) rs762546512 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.959G>A (p.Arg320His) rs1465811690 0.00001
NM_024301.5(FKRP):c.962C>A (p.Ala321Glu) rs745882222 0.00001
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936 0.00001
NM_024301.5(FKRP):c.970G>C (p.Glu324Gln) rs886044183 0.00001
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr) rs1201873802 0.00001
NM_024301.5(FKRP):c.982_984del (p.Tyr328del) rs886043458 0.00001
NM_024301.5(FKRP):c.9C>T (p.Leu3=) rs756295058 0.00001
NM_032237.5(POMK):c.1023C>T (p.Ala341=) rs777058315 0.00001
NM_032237.5(POMK):c.10C>T (p.Gln4Ter) rs202006335 0.00001
NM_032237.5(POMK):c.111C>T (p.Cys37=) rs774288809 0.00001
NM_032237.5(POMK):c.115G>A (p.Asp39Asn) rs775170725 0.00001
NM_032237.5(POMK):c.168C>G (p.Pro56=) rs1392752976 0.00001
NM_032237.5(POMK):c.183G>A (p.Arg61=) rs778749095 0.00001
NM_032237.5(POMK):c.1A>G (p.Met1Val) rs1432594936 0.00001
NM_032237.5(POMK):c.254A>G (p.Lys85Arg) rs752925552 0.00001
NM_032237.5(POMK):c.271G>A (p.Ala91Thr) rs1365587547 0.00001
NM_032237.5(POMK):c.282+7C>A rs747811554 0.00001
NM_032237.5(POMK):c.282+8C>T rs376305406 0.00001
NM_032237.5(POMK):c.282+9G>A rs779331401 0.00001
NM_032237.5(POMK):c.324A>C (p.Ser108=) rs764321374 0.00001
NM_032237.5(POMK):c.326A>G (p.Gln109Arg) rs766606876 0.00001
NM_032237.5(POMK):c.334A>G (p.Ser112Gly) rs765276659 0.00001
NM_032237.5(POMK):c.3G>C (p.Met1Ile) rs757689822 0.00001
NM_032237.5(POMK):c.408G>A (p.Thr136=) rs372221328 0.00001
NM_032237.5(POMK):c.43C>T (p.Arg15Ter) rs774013796 0.00001
NM_032237.5(POMK):c.45A>G (p.Arg15=) rs1387597417 0.00001
NM_032237.5(POMK):c.46G>A (p.Glu16Lys) rs760216520 0.00001
NM_032237.5(POMK):c.49G>T (p.Val17Leu) rs1811486866 0.00001
NM_032237.5(POMK):c.502A>C (p.Lys168Gln) rs756014333 0.00001
NM_032237.5(POMK):c.51G>T (p.Val17=) rs140164489 0.00001
NM_032237.5(POMK):c.580C>T (p.His194Tyr) rs565775459 0.00001
NM_032237.5(POMK):c.588T>C (p.Pro196=) rs766337800 0.00001
NM_032237.5(POMK):c.591G>A (p.Val197=) rs534295348 0.00001
NM_032237.5(POMK):c.619G>A (p.Asp207Asn) rs748538450 0.00001
NM_032237.5(POMK):c.620A>G (p.Asp207Gly) rs770018377 0.00001
NM_032237.5(POMK):c.627G>A (p.Pro209=) rs771102494 0.00001
NM_032237.5(POMK):c.633A>C (p.Thr211=) rs1011002628 0.00001
NM_032237.5(POMK):c.663C>A (p.Phe221Leu) rs145931566 0.00001
NM_032237.5(POMK):c.688G>A (p.Ala230Thr) rs1018638122 0.00001
NM_032237.5(POMK):c.808G>A (p.Asp270Asn) rs1295331795 0.00001
NM_032237.5(POMK):c.833A>G (p.Glu278Gly) rs757600130 0.00001
NM_032237.5(POMK):c.906C>T (p.Val302=) rs1276870660 0.00001
NM_032237.5(POMK):c.907C>T (p.Arg303Ter) rs528307346 0.00001
NM_032237.5(POMK):c.926T>C (p.Ile309Thr) rs750736847 0.00001
NC_000007.13:g.(?_16131310)_(16131434_?)dup
NC_000007.13:g.(?_16131310)_(16255832_?)del
NC_000007.13:g.(?_16131310)_(16460957_?)dup
NC_000007.13:g.(?_16131320)_(16255842_?)del
NC_000007.13:g.(?_16131320)_(16348272_?)dup
NC_000007.13:g.(?_16131320)_(16460947_?)del
NC_000007.13:g.(?_16255671)_(16317871_?)del
NC_000007.13:g.(?_16297995)_(16317871_?)del
NC_000007.13:g.(?_16297995)_(16348272_?)del
NC_000007.13:g.(?_16297995)_(16415886_?)del
NC_000007.13:g.(?_16317734)_(16317871_?)del
NC_000007.13:g.(?_16341026)_(16341111_?)del
NC_000007.13:g.(?_16341026)_(16348272_?)del
NC_000007.13:g.(?_16341026)_(16415886_?)del
NC_000007.13:g.(?_16341026)_(16460947_?)dup
NC_000007.13:g.(?_16348128)_(16445982_?)del
NC_000007.13:g.(?_16415697)_(16415886_?)dup
NC_000007.13:g.(?_16415697)_(16460947_?)del
NC_000007.13:g.(?_16415697)_(16460947_?)dup
NC_000007.13:g.(?_16415707)_(16415876_?)del
NC_000007.13:g.(?_16445666)_(16445982_?)del
NC_000007.13:g.(?_16445666)_(16445982_?)dup
NC_000007.13:g.(?_16460671)_(16460947_?)del
NC_000007.14:g.(?_16091675)_(16216217_?)del
NC_000007.14:g.(?_16216046)_(16216217_?)del
NC_000007.14:g.(?_16216046)_(16376261_?)del
NC_000007.14:g.(?_16216056)_(16216207_?)del
NC_000007.14:g.(?_16258370)_(16259032_?)del
NC_000007.14:g.(?_16258380)_(16259022_?)del
NC_000007.14:g.(?_16301411)_(16308637_?)del
NC_000007.14:g.(?_16308513)_(16376251_?)del
NC_000007.14:g.(?_16308523)_(16689906_?)del
NC_000007.14:g.(?_16376072)_(16376261_?)del
NC_000007.14:g.(?_16406061)_(16406337_?)del
NC_000008.10:g.(?_42693095)_(42978030_?)dup
NC_000008.10:g.(?_42958672)_(42978040_?)dup
NC_000008.10:g.(?_42958682)_(42958983_?)dup
NC_000008.10:g.(?_42958682)_(42978030_?)dup
NC_000008.10:g.(?_42958692)_(43054712_?)dup
NC_000008.10:g.(?_42977230)_(43054712_?)dup
NC_000008.11:g.(?_43103539)_(43103840_?)del
NC_000009.11:g.(?_134385419)_(134386714_?)del
NC_000009.11:g.(?_134389752)_(134390863_?)del
NC_000009.11:g.(?_134390793)_(134398493_?)del
NC_000009.11:g.(?_134395447)_(134395600_?)dup
NC_000009.11:g.(?_134398299)_(134398493_?)del
NC_000009.12:g.(?_130664644)_(131523116_?)dup
NC_000014.8:g.(?_77743719)_(77772804_?)del
NC_000014.8:g.(?_77743719)_(77787024_?)dup
NC_000014.8:g.(?_77755085)_(77762636_?)del
NC_000014.8:g.(?_77757637)_(77757743_?)del
NC_000014.8:g.(?_77757660)_(77763722_?)del
NM_001039885.2(FKRP):c.[74C>A(;)76_77del(;)826C>A]
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.1000C>T (p.Arg334Ter)
NM_001077365.2(POMT1):c.101_102insTA (p.Tyr36fs)
NM_001077365.2(POMT1):c.1020A>G (p.Gln340=)
NM_001077365.2(POMT1):c.1029C>A (p.Thr343=)
NM_001077365.2(POMT1):c.1029C>T (p.Thr343=)
NM_001077365.2(POMT1):c.1031G>A (p.Cys344Tyr)
NM_001077365.2(POMT1):c.1038del (p.Phe347fs)
NM_001077365.2(POMT1):c.103dup (p.Thr35fs)
NM_001077365.2(POMT1):c.1044A>G (p.Lys348=)
NM_001077365.2(POMT1):c.105C>A (p.Thr35=)
NM_001077365.2(POMT1):c.1061G>A (p.Trp354Ter)
NM_001077365.2(POMT1):c.1076C>T (p.Pro359Leu) rs1292313849
NM_001077365.2(POMT1):c.1078A>C (p.Arg360=)
NM_001077365.2(POMT1):c.1082+11G>C
NM_001077365.2(POMT1):c.1082+14_1082+33del
NM_001077365.2(POMT1):c.1082+18G>C
NM_001077365.2(POMT1):c.1082+19A>T rs1454823245
NM_001077365.2(POMT1):c.1082+9A>G
NM_001077365.2(POMT1):c.1083-11G>A
NM_001077365.2(POMT1):c.1083-20G>A
NM_001077365.2(POMT1):c.1083-7C>G rs1428085460
NM_001077365.2(POMT1):c.1083-9_1083-8del rs781619064
NM_001077365.2(POMT1):c.1086C>T (p.His362=)
NM_001077365.2(POMT1):c.1091del (p.Leu364fs) rs1947522752
NM_001077365.2(POMT1):c.1092G>A (p.Leu364=)
NM_001077365.2(POMT1):c.1093_1094insGGAGCACGGTGTGGAACGTGGG (p.Val365fs) rs2131707009
NM_001077365.2(POMT1):c.1100G>T (p.Ser367Ile)
NM_001077365.2(POMT1):c.1105C>T (p.Pro369Ser) rs2131707245
NM_001077365.2(POMT1):c.110C>T (p.Pro37Leu)
NM_001077365.2(POMT1):c.1110G>A (p.Pro370=)
NM_001077365.2(POMT1):c.1110G>T (p.Pro370=) rs766759606
NM_001077365.2(POMT1):c.111G>A (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.111G>T (p.Pro37=)
NM_001077365.2(POMT1):c.1125C>G (p.His375Gln) rs35242383
NM_001077365.2(POMT1):c.1128G>A (p.Gly376=)
NM_001077365.2(POMT1):c.1136_1137dup (p.Gln380fs)
NM_001077365.2(POMT1):c.1145del (p.Val382fs)
NM_001077365.2(POMT1):c.1146C>T (p.Val382=) rs757429050
NM_001077365.2(POMT1):c.1152C>T (p.Gly384=)
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys) rs748087053
NM_001077365.2(POMT1):c.116C>A (p.Ala39Asp) rs2131555907
NM_001077365.2(POMT1):c.116C>G (p.Ala39Gly)
NM_001077365.2(POMT1):c.1175+10C>T rs1292261993
NM_001077365.2(POMT1):c.1175+12C>T rs890396848
NM_001077365.2(POMT1):c.1175+14C>T
NM_001077365.2(POMT1):c.1175+14_1175+16del
NM_001077365.2(POMT1):c.1175+16G>C
NM_001077365.2(POMT1):c.1175+18C>A
NM_001077365.2(POMT1):c.1175+2dup rs886041907
NM_001077365.2(POMT1):c.1175+3del rs2131708682
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.1175+7G>T
NM_001077365.2(POMT1):c.1176-16G>A rs199684856
NM_001077365.2(POMT1):c.1176-16G>C rs199684856
NM_001077365.2(POMT1):c.1176-17C>G
NM_001077365.2(POMT1):c.1176-19C>G
NM_001077365.2(POMT1):c.1176G>C (p.Thr392=) rs1588427953
NM_001077365.2(POMT1):c.1181A>G (p.Asp394Gly) rs2131748341
NM_001077365.2(POMT1):c.1182dup (p.Val395fs)
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp) rs1564364465
NM_001077365.2(POMT1):c.1190C>T (p.Ala397Val)
NM_001077365.2(POMT1):c.1194C>A (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1194C>T (p.Pro398=)
NM_001077365.2(POMT1):c.1194_1196del (p.Leu399del) rs587777818
NM_001077365.2(POMT1):c.1195C>T (p.Leu399=)
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
NM_001077365.2(POMT1):c.1197G>A (p.Leu399=) rs764535220
NM_001077365.2(POMT1):c.1197G>C (p.Leu399=) rs764535220
NM_001077365.2(POMT1):c.1200C>T (p.Ser400=) rs886043851
NM_001077365.2(POMT1):c.1202C>T (p.Pro401Leu)
NM_001077365.2(POMT1):c.1203C>T (p.Pro401=)
NM_001077365.2(POMT1):c.1204dup (p.His402fs) rs2131749139
NM_001077365.2(POMT1):c.1206T>C (p.His402=)
NM_001077365.2(POMT1):c.120G>A (p.Val40=)
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter) rs1554778005
NM_001077365.2(POMT1):c.1211dup (p.Glu405fs)
NM_001077365.2(POMT1):c.122+10A>G
NM_001077365.2(POMT1):c.122+13_122+20dup
NM_001077365.2(POMT1):c.122+14C>T
NM_001077365.2(POMT1):c.122+15T>C
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.122+7T>C
NM_001077365.2(POMT1):c.1221C>T (p.Ser407=) rs1172989588
NM_001077365.2(POMT1):c.1224C>T (p.Cys408=) rs1392371349
NM_001077365.2(POMT1):c.1226A>G (p.Tyr409Cys) rs1948104184
NM_001077365.2(POMT1):c.1229T>C (p.Ile410Thr) rs1554778053
NM_001077365.2(POMT1):c.123-11T>G
NM_001077365.2(POMT1):c.123-14G>T
NM_001077365.2(POMT1):c.123-17G>A
NM_001077365.2(POMT1):c.123-18T>G
NM_001077365.2(POMT1):c.123-18del rs1564331634
NM_001077365.2(POMT1):c.123-19T>C
NM_001077365.2(POMT1):c.123-20GTT[2] rs769392387
NM_001077365.2(POMT1):c.123-4C>T
NM_001077365.2(POMT1):c.123-5T>C
NM_001077365.2(POMT1):c.123-5del
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077365.2(POMT1):c.123-7T>C
NM_001077365.2(POMT1):c.1235dup (p.Tyr412Ter)
NM_001077365.2(POMT1):c.1248G>T (p.Met416Ile)
NM_001077365.2(POMT1):c.1249C>T (p.Pro417Ser) rs1948110753
NM_001077365.2(POMT1):c.1251C>A (p.Pro417=) rs376749638
NM_001077365.2(POMT1):c.1252G>T (p.Ala418Ser) rs142057517
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup) rs773942978
NM_001077365.2(POMT1):c.1263C>T (p.Leu421=)
NM_001077365.2(POMT1):c.1272+10G>A
NM_001077365.2(POMT1):c.1272+11C>A
NM_001077365.2(POMT1):c.1272+14C>A
NM_001077365.2(POMT1):c.1272+14C>T rs775878866
NM_001077365.2(POMT1):c.1272+15G>A
NM_001077365.2(POMT1):c.1272+1G>A rs2131751359
NM_001077365.2(POMT1):c.1272+2T>C rs1564365317
NM_001077365.2(POMT1):c.1272+2dup
NM_001077365.2(POMT1):c.1272+7A>G
NM_001077365.2(POMT1):c.1272+8A>G rs1948118898
NM_001077365.2(POMT1):c.1272G>T (p.Leu424=)
NM_001077365.2(POMT1):c.1273-10del rs2131847588
NM_001077365.2(POMT1):c.1273-11del
NM_001077365.2(POMT1):c.1273-15G>A
NM_001077365.2(POMT1):c.1273-17G>C
NM_001077365.2(POMT1):c.1273-18T>C
NM_001077365.2(POMT1):c.1273-2A>G
NM_001077365.2(POMT1):c.1273-9T>C
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
NM_001077365.2(POMT1):c.1293T>C (p.Ser431=)
NM_001077365.2(POMT1):c.1296C>T (p.Asp432=)
NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)
NM_001077365.2(POMT1):c.1311G>A (p.Lys437=) rs1949210371
NM_001077365.2(POMT1):c.1318C>T (p.Leu440Phe)
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) rs753403833
NM_001077365.2(POMT1):c.1326G>A (p.Glu442=) rs764970702
NM_001077365.2(POMT1):c.1335T>G (p.Phe445Leu) rs2131848570
NM_001077365.2(POMT1):c.1344G>A (p.Val448=)
NM_001077365.2(POMT1):c.1346A>G (p.Asn449Ser)
NM_001077365.2(POMT1):c.1347C>T (p.Asn449=)
NM_001077365.2(POMT1):c.1348A>T (p.Thr450Ser) rs2131848872
NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn) rs757785909
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe) rs890463115
NM_001077365.2(POMT1):c.1353C>T (p.Ser451=)
NM_001077365.2(POMT1):c.1356_1357insTAAGTGTTCC (p.Val453Ter)
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) rs1554780670
NM_001077365.2(POMT1):c.1364del (p.Lys455fs) rs1472946513
NM_001077365.2(POMT1):c.1365+11T>C
NM_001077365.2(POMT1):c.1365+14C>T
NM_001077365.2(POMT1):c.1365+16G>A
NM_001077365.2(POMT1):c.1365+9A>G rs2131849509
NM_001077365.2(POMT1):c.1366-12_1366-11dup
NM_001077365.2(POMT1):c.1366-20C>T
NM_001077365.2(POMT1):c.1371C>G (p.Ser457Arg) rs746412899
NM_001077365.2(POMT1):c.1380C>T (p.His460=)
NM_001077365.2(POMT1):c.1384C>T (p.Pro462Ser) rs1347678628
NM_001077365.2(POMT1):c.138T>C (p.Tyr46=)
NM_001077365.2(POMT1):c.1390T>C (p.Trp464Arg)
NM_001077365.2(POMT1):c.1390T>G (p.Trp464Gly) rs376126988
NM_001077365.2(POMT1):c.1390dup (p.Trp464fs)
NM_001077365.2(POMT1):c.1392G>C (p.Trp464Cys)
NM_001077365.2(POMT1):c.1399C>T (p.Arg467Trp) rs770668718
NM_001077365.2(POMT1):c.139T>G (p.Tyr47Asp) rs1945758260
NM_001077365.2(POMT1):c.1413C>A (p.Ile471=) rs769288290
NM_001077365.2(POMT1):c.1413C>T (p.Ile471=)
NM_001077365.2(POMT1):c.1417G>C (p.Gly473Arg) rs376882399
NM_001077365.2(POMT1):c.1419G>A (p.Gly473=)
NM_001077365.2(POMT1):c.1426C>G (p.Leu476Val) rs1949310812
NM_001077365.2(POMT1):c.1436G>C (p.Gly479Ala) rs1949313840
NM_001077365.2(POMT1):c.1436del (p.Gly479fs)
NM_001077365.2(POMT1):c.1441C>A (p.His481Asn)
NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter) rs1191391104
NM_001077365.2(POMT1):c.1458G>A (p.Trp486Ter)
NM_001077365.2(POMT1):c.145del (p.Gln49fs)
NM_001077365.2(POMT1):c.1465GAG[1] (p.Glu490del) rs1949322859
NM_001077365.2(POMT1):c.1469A>C (p.Glu490Ala) rs2131857011
NM_001077365.2(POMT1):c.1470G>A (p.Glu490=)
NM_001077365.2(POMT1):c.1473C>T (p.His491=) rs770742841
NM_001077365.2(POMT1):c.1474C>A (p.Arg492=)
NM_001077365.2(POMT1):c.1477_1486del (p.Tyr493fs)
NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter) rs727502854
NM_001077365.2(POMT1):c.1482C>T (p.Gly494=)
NM_001077365.2(POMT1):c.1484C>A (p.Ala495Glu) rs761439623
NM_001077365.2(POMT1):c.1486+11G>T rs755682718
NM_001077365.2(POMT1):c.1486+12G>C
NM_001077365.2(POMT1):c.1486+13C>T
NM_001077365.2(POMT1):c.1486+18C>T
NM_001077365.2(POMT1):c.1486+20T>G
NM_001077365.2(POMT1):c.1486+8C>T
NM_001077365.2(POMT1):c.1486+9G>T
NM_001077365.2(POMT1):c.1487-10G>A
NM_001077365.2(POMT1):c.1487-18C>T
NM_001077365.2(POMT1):c.1497G>A (p.Gln499=)
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4]) rs727502853
NM_001077365.2(POMT1):c.1507G>A (p.Glu503Lys) rs2131866665
NM_001077365.2(POMT1):c.1510C>A (p.Arg504=)
NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe) rs886044651
NM_001077365.2(POMT1):c.1521C>G (p.His507Gln)
NM_001077365.2(POMT1):c.1524dup (p.Pro509fs)
NM_001077365.2(POMT1):c.1525C>G (p.Pro509Ala) rs140398617
NM_001077365.2(POMT1):c.1530G>A (p.Ala510=)
NM_001077365.2(POMT1):c.1535T>A (p.Val512Glu)
NM_001077365.2(POMT1):c.1536G>A (p.Val512=) rs1949458706
NM_001077365.2(POMT1):c.1538A>C (p.Asp513Ala)
NM_001077365.2(POMT1):c.1539C>T (p.Asp513=)
NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile) rs984288781
NM_001077365.2(POMT1):c.154T>C (p.Ser52Pro) rs1554771665
NM_001077365.2(POMT1):c.1550del (p.Asn517fs)
NM_001077365.2(POMT1):c.1551C>T (p.Asn517=)
NM_001077365.2(POMT1):c.1552_1569delinsTGACGTCCTGCTGACG (p.Leu518_Arg523delinsTer) rs1564381395
NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly) rs1564381465
NM_001077365.2(POMT1):c.1560C>T (p.Phe520=) rs1588476051
NM_001077365.2(POMT1):c.1566G>A (p.Ala522=)
NM_001077365.2(POMT1):c.1570T>A (p.Phe524Ile)
NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys) rs1949475355
NM_001077365.2(POMT1):c.1581G>A (p.Leu527=) rs1378023866
NM_001077365.2(POMT1):c.1584+13C>T rs2131869164
NM_001077365.2(POMT1):c.1584+14A>G
NM_001077365.2(POMT1):c.1584+14del
NM_001077365.2(POMT1):c.1584+16G>T
NM_001077365.2(POMT1):c.1584+18G>A
NM_001077365.2(POMT1):c.1584+18dup
NM_001077365.2(POMT1):c.1584+20A>G
NM_001077365.2(POMT1):c.1585-16C>T
NM_001077365.2(POMT1):c.1585-16CT[3]
NM_001077365.2(POMT1):c.1585-18G>C
NM_001077365.2(POMT1):c.1585-19G>A
NM_001077365.2(POMT1):c.1585-20A>C
NM_001077365.2(POMT1):c.1585-2A>G rs2131880195
NM_001077365.2(POMT1):c.1585T>C (p.Trp529Arg) rs1949610411
NM_001077365.2(POMT1):c.1599G>A (p.Ala533=)
NM_001077365.2(POMT1):c.1602G>C (p.Leu534=)
NM_001077365.2(POMT1):c.1605A>G (p.Arg535=)
NM_001077365.2(POMT1):c.1608T>G (p.Ser536Arg) rs1588482215
NM_001077365.2(POMT1):c.160_161insTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTACATCTCTTTTT (p.Tyr54delinsPhePhePhePhePheXaaXaaXaaXaaHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer) rs2131588122
NM_001077365.2(POMT1):c.1611T>C (p.Asp537=)
NM_001077365.2(POMT1):c.1629C>T (p.Tyr543=)
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
NM_001077365.2(POMT1):c.162C>T (p.Tyr54=)
NM_001077365.2(POMT1):c.1634C>G (p.Ser545Cys)
NM_001077365.2(POMT1):c.1637G>A (p.Ser546Asn)
NM_001077365.2(POMT1):c.1637G>C (p.Ser546Thr) rs1949619639
NM_001077365.2(POMT1):c.1638C>G (p.Ser546Arg) rs2131881044
NM_001077365.2(POMT1):c.1641A>C (p.Pro547=) rs932156935
NM_001077365.2(POMT1):c.1644G>A (p.Leu548=) rs2131881178
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=) rs757830349
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) rs794727190
NM_001077365.2(POMT1):c.1658T>C (p.Leu553Pro) rs777490066
NM_001077365.2(POMT1):c.1664C>T (p.Thr555Ile)
NM_001077365.2(POMT1):c.1667A>G (p.Asn556Ser)
NM_001077365.2(POMT1):c.1667del (p.Asn556fs)
NM_001077365.2(POMT1):c.1671del (p.Ile557fs) rs1949626483
NM_001077365.2(POMT1):c.1672G>T (p.Ala558Ser)
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys) rs119462984
NM_001077365.2(POMT1):c.1683G>A (p.Leu561=)
NM_001077365.2(POMT1):c.168A>G (p.Lys56=)
NM_001077365.2(POMT1):c.1695C>A (p.Thr565=)
NM_001077365.2(POMT1):c.1698+10C>T
NM_001077365.2(POMT1):c.1698+11G>A
NM_001077365.2(POMT1):c.1698+11G>C rs115243626
NM_001077365.2(POMT1):c.1698+17G>A
NM_001077365.2(POMT1):c.1698+2dup
NM_001077365.2(POMT1):c.1698+7G>T
NM_001077365.2(POMT1):c.1699-10del
NM_001077365.2(POMT1):c.1699-11T>C
NM_001077365.2(POMT1):c.1699-11T>G
NM_001077365.2(POMT1):c.1699-12A>G
NM_001077365.2(POMT1):c.1699-1G>A rs1949874222
NM_001077365.2(POMT1):c.1699-20C>G
NM_001077365.2(POMT1):c.1699-20C>T
NM_001077365.2(POMT1):c.1699-7C>T rs764871902
NM_001077365.2(POMT1):c.169C>T (p.Gln57Ter) rs1945766589
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.1705A>C (p.Ile569Leu) rs1588493803
NM_001077365.2(POMT1):c.1715T>G (p.Leu572Arg)
NM_001077365.2(POMT1):c.171A>G (p.Gln57=)
NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)
NM_001077365.2(POMT1):c.1731C>A (p.Ile577=)
NM_001077365.2(POMT1):c.1733G>A (p.Trp578Ter)
NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu) rs1588494128
NM_001077365.2(POMT1):c.1740G>C (p.Ser580=)
NM_001077365.2(POMT1):c.1743C>A (p.Gly581=)
NM_001077365.2(POMT1):c.1745G>C (p.Ser582Thr)
NM_001077365.2(POMT1):c.1749C>G (p.Leu583=) rs755379319
NM_001077365.2(POMT1):c.1749C>T (p.Leu583=) rs755379319
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1758del (p.Ile587fs)
NM_001077365.2(POMT1):c.1767C>G (p.Ala589=)
NM_001077365.2(POMT1):c.1768C>G (p.Leu590Val)
NM_001077365.2(POMT1):c.1770G>A (p.Leu590=)
NM_001077365.2(POMT1):c.1778T>C (p.Leu593Ser)
NM_001077365.2(POMT1):c.1781G>A (p.Trp594Ter)
NM_001077365.2(POMT1):c.1786C>T (p.Leu596=)
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu) rs1564332130
NM_001077365.2(POMT1):c.1791C>G (p.Leu597=)
NM_001077365.2(POMT1):c.1797G>A (p.Arg599=) rs2131904951
NM_001077365.2(POMT1):c.1799G>A (p.Arg600Gln) rs753485021
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu) rs753485021
NM_001077365.2(POMT1):c.1806T>C (p.Asn602=) rs2131905242
NM_001077365.2(POMT1):c.1806dup (p.Val603fs)
NM_001077365.2(POMT1):c.1821_1822dup (p.Gln608fs)
NM_001077365.2(POMT1):c.1825+11C>G
NM_001077365.2(POMT1):c.1825+12T>C
NM_001077365.2(POMT1):c.1825+18A>G
NM_001077365.2(POMT1):c.1825+22_1825+48del
NM_001077365.2(POMT1):c.1825+2T>C
NM_001077365.2(POMT1):c.1825+3_1825+16del
NM_001077365.2(POMT1):c.1825+4A>C
NM_001077365.2(POMT1):c.1825+8C>T
NM_001077365.2(POMT1):c.1825+9C>A
NM_001077365.2(POMT1):c.1826-10T>C
NM_001077365.2(POMT1):c.1826-13C>A
NM_001077365.2(POMT1):c.1826-4A>G
NM_001077365.2(POMT1):c.1826-7C>T
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA rs1064793740
NM_001077365.2(POMT1):c.1827T>C (p.Asp609=)
NM_001077365.2(POMT1):c.1830C>T (p.Ala610=)
NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs) rs1315540509
NM_001077365.2(POMT1):c.1838G>T (p.Arg613Leu)
NM_001077365.2(POMT1):c.183G>A (p.Leu61=) rs1945769344
NM_001077365.2(POMT1):c.1842_1860dup (p.Cys621fs)
NM_001077365.2(POMT1):c.1847_1865dup (p.Gly624fs)
NM_001077365.2(POMT1):c.1848G>C (p.Leu616=) rs370443246
NM_001077365.2(POMT1):c.1857G>A (p.Ala619=)
NM_001077365.2(POMT1):c.1858C>T (p.Leu620=)
NM_001077365.2(POMT1):c.1867G>C (p.Gly623Arg)
NM_001077365.2(POMT1):c.1869T>C (p.Gly623=)
NM_001077365.2(POMT1):c.1871_1872del (p.Gly624fs)
NM_001077365.2(POMT1):c.1890C>T (p.Leu630=) rs1007091999
NM_001077365.2(POMT1):c.1907A>G (p.Glu636Gly) rs1322926242
NM_001077365.2(POMT1):c.1911del (p.Thr638fs)
NM_001077365.2(POMT1):c.1917_1918del (p.Phe640fs)
NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe) rs777437871
NM_001077365.2(POMT1):c.1937C>T (p.Pro646Leu) rs2131922893
NM_001077365.2(POMT1):c.1941A>G (p.Ala647=)
NM_001077365.2(POMT1):c.1951C>T (p.Gln651Ter)
NM_001077365.2(POMT1):c.195G>A (p.Gly65=)
NM_001077365.2(POMT1):c.1974C>T (p.Val658=)
NM_001077365.2(POMT1):c.1975C>T (p.Leu659=)
NM_001077365.2(POMT1):c.1977del (p.Gln660fs)
NM_001077365.2(POMT1):c.1979A>G (p.Gln660Arg) rs775109154
NM_001077365.2(POMT1):c.1983_1987del (p.His661fs)
NM_001077365.2(POMT1):c.1985T>A (p.Ile662Asn) rs2131923569
NM_001077365.2(POMT1):c.2000G>A (p.Cys667Tyr) rs1219770866
NM_001077365.2(POMT1):c.2001C>G (p.Cys667Trp)
NM_001077365.2(POMT1):c.2002A>C (p.Arg668=) rs985023011
NM_001077365.2(POMT1):c.2003+12_2003+13delinsAT
NM_001077365.2(POMT1):c.2003+14G>A
NM_001077365.2(POMT1):c.2003+17G>A
NM_001077365.2(POMT1):c.2003+18A>C
NM_001077365.2(POMT1):c.2003+18A>G
NM_001077365.2(POMT1):c.2003+20A>G
NM_001077365.2(POMT1):c.2003+8G>A
NM_001077365.2(POMT1):c.2004-10A>G
NM_001077365.2(POMT1):c.2004-13C>T
NM_001077365.2(POMT1):c.2004-16G>A rs896269640
NM_001077365.2(POMT1):c.2004-18C>A
NM_001077365.2(POMT1):c.2004-18C>G
NM_001077365.2(POMT1):c.2004-20C>G rs372767898
NM_001077365.2(POMT1):c.2004-4G>A
NM_001077365.2(POMT1):c.2004-5T>G
NM_001077365.2(POMT1):c.2004-8C>T rs1950257826
NM_001077365.2(POMT1):c.2004-9C>T rs886063538
NM_001077365.2(POMT1):c.2014_2015del (p.Gln672fs)
NM_001077365.2(POMT1):c.2015A>G (p.Gln672Arg)
NM_001077365.2(POMT1):c.2016G>A (p.Gln672=) rs779577551
NM_001077365.2(POMT1):c.2019G>A (p.Arg673=)
NM_001077365.2(POMT1):c.2019del (p.Ser674fs)
NM_001077365.2(POMT1):c.2022C>G (p.Ser674Arg)
NM_001077365.2(POMT1):c.2022C>T (p.Ser674=)
NM_001077365.2(POMT1):c.2028C>T (p.Phe676=)
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs) rs1950265792
NM_001077365.2(POMT1):c.2044dup (p.Ala682fs) rs587777817
NM_001077365.2(POMT1):c.2046C>G (p.Ala682=)
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His) rs113633543
NM_001077365.2(POMT1):c.2053T>A (p.Ser685Thr) rs1588513928
NM_001077365.2(POMT1):c.205G>A (p.Gly69Ser) rs1945776583
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.2068G>T (p.Val690Leu)
NM_001077365.2(POMT1):c.2070G>A (p.Val690=) rs752855537
NM_001077365.2(POMT1):c.2082G>A (p.Leu694=)
NM_001077365.2(POMT1):c.2089C>T (p.Leu697Phe)
NM_001077365.2(POMT1):c.2090T>A (p.Leu697His) rs753872714
NM_001077365.2(POMT1):c.2093C>T (p.Thr698Ile)
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2098G>T (p.Gly700Trp) rs912556508
NM_001077365.2(POMT1):c.2101G>T (p.Asp701Tyr) rs771877812
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2103C>T (p.Asp701=)
NM_001077365.2(POMT1):c.2110C>T (p.Leu704Phe) rs2131946967
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs) rs587777819
NM_001077365.2(POMT1):c.2113_2119del (p.Ser705fs)
NM_001077365.2(POMT1):c.2115G>C (p.Ser705=)
NM_001077365.2(POMT1):c.2118A>T (p.Pro706=)
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro) rs776988725
NM_001077365.2(POMT1):c.2127C>A (p.Leu709=) rs2131947484
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His) rs938573554
NM_001077365.2(POMT1):c.2140T>C (p.Trp714Arg)
NM_001077365.2(POMT1):c.2140del (p.Trp714fs)
NM_001077365.2(POMT1):c.2141G>A (p.Trp714Ter)
NM_001077365.2(POMT1):c.2142del (p.Arg713_Trp714insTer)
NM_001077365.2(POMT1):c.2144_2147dup (p.Asp716fs) rs750453909
NM_001077365.2(POMT1):c.2145_2156del (p.Lys715_Asp719delinsAsn) rs1564395473
NM_001077365.2(POMT1):c.2162T>G (p.Leu721Trp)
NM_001077365.2(POMT1):c.2178G>C (p.Ter726Tyr) rs147143094
NM_001077365.2(POMT1):c.221C>A (p.Ala74Asp)
NM_001077365.2(POMT1):c.225G>A (p.Leu75=)
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_001077365.2(POMT1):c.229+12C>G
NM_001077365.2(POMT1):c.229+12C>T
NM_001077365.2(POMT1):c.229+14G>A rs1945785020
NM_001077365.2(POMT1):c.229+2T>C rs1945782278
NM_001077365.2(POMT1):c.229+7G>T
NM_001077365.2(POMT1):c.229+8T>G
NM_001077365.2(POMT1):c.230-16T>A
NM_001077365.2(POMT1):c.230-17T>C
NM_001077365.2(POMT1):c.230-2A>G
NM_001077365.2(POMT1):c.230-2A>T
NM_001077365.2(POMT1):c.230-9_230-8del rs2131591743
NM_001077365.2(POMT1):c.23C>T (p.Pro8Leu)
NM_001077365.2(POMT1):c.240A>G (p.Gly80=)
NM_001077365.2(POMT1):c.245del (p.Phe82fs)
NM_001077365.2(POMT1):c.249T>C (p.Asp83=)
NM_001077365.2(POMT1):c.252C>G (p.Gly84=)
NM_001077365.2(POMT1):c.260dup (p.Leu87fs)
NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter) rs1945827957
NM_001077365.2(POMT1):c.26T>C (p.Val9Ala) rs1945225387
NM_001077365.2(POMT1):c.270_280delAATTGGAGCAG (p.Gly92fs) rs1222795311
NM_001077365.2(POMT1):c.273T>C (p.Ile91=)
NM_001077365.2(POMT1):c.274G>A (p.Gly92Arg) rs2131592403
NM_001077365.2(POMT1):c.280+12T>C
NM_001077365.2(POMT1):c.280+16C>A
NM_001077365.2(POMT1):c.280+16C>T
NM_001077365.2(POMT1):c.280+20T>C
NM_001077365.2(POMT1):c.280+7G>A
NM_001077365.2(POMT1):c.280+7_280+8del rs561658895
NM_001077365.2(POMT1):c.280G>T (p.Glu94Ter)
NM_001077365.2(POMT1):c.281-16G>A
NM_001077365.2(POMT1):c.281-8T>C
NM_001077365.2(POMT1):c.283T>C (p.Tyr95His)
NM_001077365.2(POMT1):c.285C>T (p.Tyr95=) rs1554772428
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
NM_001077365.2(POMT1):c.295G>A (p.Val99Met) rs1449103987
NM_001077365.2(POMT1):c.314G>A (p.Arg105His) rs1554772469
NM_001077365.2(POMT1):c.330C>T (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.333G>A (p.Ala111=)
NM_001077365.2(POMT1):c.342G>T (p.Leu114Phe)
NM_001077365.2(POMT1):c.344C>T (p.Ser115Leu)
NM_001077365.2(POMT1):c.352A>G (p.Met118Val)
NM_001077365.2(POMT1):c.357C>T (p.Ala119=)
NM_001077365.2(POMT1):c.360C>T (p.Tyr120=) rs2131606375
NM_001077365.2(POMT1):c.36G>T (p.Thr12=)
NM_001077365.2(POMT1):c.385del (p.Ser129fs)
NM_001077365.2(POMT1):c.389_407del (p.His130fs)
NM_001077365.2(POMT1):c.389del (p.His130fs)
NM_001077365.2(POMT1):c.412C>T (p.Leu138=)
NM_001077365.2(POMT1):c.418A>G (p.Met140Val) rs2131607251
NM_001077365.2(POMT1):c.418_420del (p.Met140del) rs587777820
NM_001077365.2(POMT1):c.423T>C (p.Leu141=)
NM_001077365.2(POMT1):c.427+12G>T
NM_001077365.2(POMT1):c.427+17T>G
NM_001077365.2(POMT1):c.427+1G>A rs760071332
NM_001077365.2(POMT1):c.427+1_427+2insA rs900762841
NM_001077365.2(POMT1):c.427+20C>G
NM_001077365.2(POMT1):c.427G>A (p.Glu143Lys)
NM_001077365.2(POMT1):c.428-11C>T
NM_001077365.2(POMT1):c.428-2A>G rs1554773448
NM_001077365.2(POMT1):c.428-7G>A
NM_001077365.2(POMT1):c.428-7G>T
NM_001077365.2(POMT1):c.428-8T>C
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp) rs397514501
NM_001077365.2(POMT1):c.432del (p.Asn144fs)
NM_001077365.2(POMT1):c.434C>T (p.Ala145Val)
NM_001077365.2(POMT1):c.435T>A (p.Ala145=)
NM_001077365.2(POMT1):c.439A>G (p.Ile147Val)
NM_001077365.2(POMT1):c.443C>A (p.Thr148Asn) rs1564341846
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile) rs1184495903
NM_001077365.2(POMT1):c.463T>C (p.Leu155=)
NM_001077365.2(POMT1):c.466G>C (p.Glu156Gln)
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.498C>T (p.Ala166=)
NM_001077365.2(POMT1):c.499G>C (p.Val167Leu)
NM_001077365.2(POMT1):c.504G>A (p.Leu168=)
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
NM_001077365.2(POMT1):c.514_518delinsTCCTAC (p.Lys172fs)
NM_001077365.2(POMT1):c.520T>A (p.Phe174Ile)
NM_001077365.2(POMT1):c.529C>T (p.Gln177Ter)
NM_001077365.2(POMT1):c.533A>G (p.Lys178Arg)
NM_001077365.2(POMT1):c.538A>C (p.Ser180Arg) rs770239141
NM_001077365.2(POMT1):c.539+15G>A
NM_001077365.2(POMT1):c.539+20T>G
NM_001077365.2(POMT1):c.539+2T>C
NM_001077365.2(POMT1):c.539+9A>G rs964407139
NM_001077365.2(POMT1):c.540-3C>T
NM_001077365.2(POMT1):c.540-4C>G
NM_001077365.2(POMT1):c.540-8T>C
NM_001077365.2(POMT1):c.545T>G (p.Phe182Cys) rs1946684104
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_001077365.2(POMT1):c.558G>T (p.Trp186Cys)
NM_001077365.2(POMT1):c.559del (p.Trp187fs)
NM_001077365.2(POMT1):c.570A>T (p.Leu190=)
NM_001077365.2(POMT1):c.577_596del (p.Thr193fs)
NM_001077365.2(POMT1):c.583del (p.Val195fs)
NM_001077365.2(POMT1):c.587C>T (p.Ala196Val)
NM_001077365.2(POMT1):c.58dup (p.Val20fs) rs2131554631
NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr) rs767056835
NM_001077365.2(POMT1):c.59T>C (p.Val20Ala)
NM_001077365.2(POMT1):c.600_601delinsGA (p.Val201Met) rs2131641762
NM_001077365.2(POMT1):c.605+13dup
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.605+4A>G
NM_001077365.2(POMT1):c.606-12A>G rs1057523851
NM_001077365.2(POMT1):c.606-13C>T
NM_001077365.2(POMT1):c.606-14T>C
NM_001077365.2(POMT1):c.606del (p.Ile203fs) rs1588375386
NM_001077365.2(POMT1):c.621T>C (p.Gly207=)
NM_001077365.2(POMT1):c.622G>T (p.Val208Leu)
NM_001077365.2(POMT1):c.62C>T (p.Ala21Val)
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter) rs747129906
NM_001077365.2(POMT1):c.633C>T (p.Tyr211=) rs747129906
NM_001077365.2(POMT1):c.636G>T (p.Val212=)
NM_001077365.2(POMT1):c.63C>T (p.Ala21=)
NM_001077365.2(POMT1):c.640G>T (p.Val214Leu)
NM_001077365.2(POMT1):c.641T>C (p.Val214Ala) rs919829316
NM_001077365.2(POMT1):c.669G>A (p.Trp223Ter)
NM_001077365.2(POMT1):c.673C>T (p.Leu225=)
NM_001077365.2(POMT1):c.675G>A (p.Leu225=)
NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro) rs1554774207
NM_001077365.2(POMT1):c.687G>C (p.Gln229His) rs1946741782
NM_001077365.2(POMT1):c.688A>T (p.Thr230Ser)
NM_001077365.2(POMT1):c.689C>G (p.Thr230Ser)
NM_001077365.2(POMT1):c.699+14T>G rs370038491
NM_001077365.2(POMT1):c.699+14_699+17dup
NM_001077365.2(POMT1):c.699+18G>C rs886063537
NM_001077365.2(POMT1):c.699+24C>A
NM_001077365.2(POMT1):c.699+26T>G rs2131645042
NM_001077365.2(POMT1):c.699+39T>C
NM_001077365.2(POMT1):c.699+40A>G
NM_001077365.2(POMT1):c.699+45G>T
NM_001077365.2(POMT1):c.699+49A>T
NM_001077365.2(POMT1):c.699+5G>T
NM_001077365.2(POMT1):c.699+64G>C rs746958804
NM_001077365.2(POMT1):c.699+66G>T
NM_001077365.2(POMT1):c.699+67G>T rs776061161
NM_001077365.2(POMT1):c.699+67dup
NM_001077365.2(POMT1):c.699+6T>G
NM_001077365.2(POMT1):c.699+73G>C
NM_001077365.2(POMT1):c.699+74G>T
NM_001077365.2(POMT1):c.699+75T>C
NM_001077365.2(POMT1):c.699+76G>T
NM_001077365.2(POMT1):c.699+80del
NM_001077365.2(POMT1):c.699+81G>A
NM_001077365.2(POMT1):c.699+83_699+84insAT
NM_001077365.2(POMT1):c.699+85C>T rs369000699
NM_001077365.2(POMT1):c.699T>C (p.Asn233=)
NM_001077365.2(POMT1):c.700-17C>T rs1946817783
NM_001077365.2(POMT1):c.700-2A>G
NM_001077365.2(POMT1):c.700-6T>C
NM_001077365.2(POMT1):c.700-7C>T rs1588380391
NM_001077365.2(POMT1):c.708G>A (p.Val236=)
NM_001077365.2(POMT1):c.720del (p.Leu240fs)
NM_001077365.2(POMT1):c.724G>T (p.Ala242Ser) rs779771679
NM_001077365.2(POMT1):c.725C>T (p.Ala242Val) rs1554774466
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter) rs398124247
NM_001077365.2(POMT1):c.728G>C (p.Arg243Pro) rs772980661
NM_001077365.2(POMT1):c.729A>G (p.Arg243=) rs2131652629
NM_001077365.2(POMT1):c.72del (p.Met25fs) rs2131554917
NM_001077365.2(POMT1):c.732A>C (p.Ala244=)
NM_001077365.2(POMT1):c.743T>G (p.Leu248Arg) rs1946833127
NM_001077365.2(POMT1):c.744G>A (p.Leu248=)
NM_001077365.2(POMT1):c.748A>G (p.Ile250Val)
NM_001077365.2(POMT1):c.759C>G (p.Val253=)
NM_001077365.2(POMT1):c.75G>T (p.Met25Ile)
NM_001077365.2(POMT1):c.761T>G (p.Leu254Arg)
NM_001077365.2(POMT1):c.762G>A (p.Leu254=)
NM_001077365.2(POMT1):c.773TCT[1] (p.Phe259del)
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) rs759734493
NM_001077365.2(POMT1):c.789_790del (p.Leu263fs)
NM_001077365.2(POMT1):c.797_808del (p.Val266_Ser269del)
NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)
NM_001077365.2(POMT1):c.804C>T (p.Arg268=)
NM_001077365.2(POMT1):c.813C>T (p.Pro271=)
NM_001077365.2(POMT1):c.846C>T (p.Ala282=) rs886043307
NM_001077365.2(POMT1):c.84G>C (p.Leu28=)
NM_001077365.2(POMT1):c.852A>T (p.Leu284Phe)
NM_001077365.2(POMT1):c.855+12G>A
NM_001077365.2(POMT1):c.855+17C>T
NM_001077365.2(POMT1):c.855+19del
NM_001077365.2(POMT1):c.855+20C>T
NM_001077365.2(POMT1):c.855+7A>G
NM_001077365.2(POMT1):c.856-15C>G rs1947072981
NM_001077365.2(POMT1):c.856-16_856-14del
NM_001077365.2(POMT1):c.856-17T>G
NM_001077365.2(POMT1):c.856-18C>T
NM_001077365.2(POMT1):c.856-2A>G
NM_001077365.2(POMT1):c.856-5C>T rs970574744
NM_001077365.2(POMT1):c.856-6T>C
NM_001077365.2(POMT1):c.859G>A (p.Gly287Arg)
NM_001077365.2(POMT1):c.859_871del (p.Gly287fs) rs2131672013
NM_001077365.2(POMT1):c.860G>A (p.Gly287Glu) rs1947076473
NM_001077365.2(POMT1):c.870G>A (p.Arg290=)
NM_001077365.2(POMT1):c.879G>T (p.Gln293His) rs1947080431
NM_001077365.2(POMT1):c.880G>A (p.Gly294Ser) rs145395372
NM_001077365.2(POMT1):c.881G>A (p.Gly294Asp) rs1947081771
NM_001077365.2(POMT1):c.885G>A (p.Gln295=)
NM_001077365.2(POMT1):c.888A>G (p.Pro296=)
NM_001077365.2(POMT1):c.889C>T (p.Leu297=)
NM_001077365.2(POMT1):c.897G>A (p.Val299=)
NM_001077365.2(POMT1):c.8G>A (p.Gly3Glu)
NM_001077365.2(POMT1):c.900C>G (p.Ala300=)
NM_001077365.2(POMT1):c.91del (p.Leu31fs)
NM_001077365.2(POMT1):c.927C>T (p.Asn309=) rs753694905
NM_001077365.2(POMT1):c.92T>A (p.Leu31Gln) rs2131555430
NM_001077365.2(POMT1):c.936G>A (p.Gly312=)
NM_001077365.2(POMT1):c.93del (p.Trp32fs)
NM_001077365.2(POMT1):c.948C>T (p.Pro316=)
NM_001077365.2(POMT1):c.962_982del (p.Ser321_Met328delinsLeu) rs2131673494
NM_001077365.2(POMT1):c.972_973insCT (p.Thr325fs)
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter) rs1588391612
NM_001077365.2(POMT1):c.982A>C (p.Met328Leu)
NM_001077365.2(POMT1):c.986+10T>C
NM_001077365.2(POMT1):c.986+11G>A
NM_001077365.2(POMT1):c.986+12dup
NM_001077365.2(POMT1):c.987-2A>C rs1453773610
NM_001077365.2(POMT1):c.987-2A>G
NM_001077365.2(POMT1):c.987-4A>G
NM_001077365.2(POMT1):c.987-5C>T
NM_001077365.2(POMT1):c.988T>C (p.Tyr330His)
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689
NM_001077365.2(POMT1):c.990T>C (p.Tyr330=)
NM_001077365.2(POMT1):c.993G>A (p.Glu331=)
NM_001077365.2(POMT1):c.996C>T (p.Asn332=)
NM_001077365.2(POMT1):c.[2101dup];[512T>G]
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.*4859A>G rs1554768242
NM_001079802.2(FKTN):c.*4859A>T rs1554768242
NM_001079802.2(FKTN):c.*5303dup rs879263714
NM_001079802.2(FKTN):c.*5374_*5846del
NM_001079802.2(FKTN):c.*5817A>C rs886063343
NM_001079802.2(FKTN):c.*806G>C rs75971372
NM_001079802.2(FKTN):c.-181+1G>C rs574535599
NM_001079802.2(FKTN):c.-181+1G>T rs574535599
NM_001079802.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
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.1044+17G>C rs200801909
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.1150G>T (p.Ala384Ser) rs1343750016
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
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.1201del (p.Trp401fs) rs1554766841
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter) rs765934383
NM_001079802.2(FKTN):c.1256T>A (p.Ile419Asn)
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs) rs1554766898
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.2(FKTN):c.1363del (p.Asp455fs) rs587777814
NM_001079802.2(FKTN):c.165+5G>A rs2132596368
NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del) rs1554751112
NM_001079802.2(FKTN):c.187_188del (p.Met63fs) rs587777813
NM_001079802.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle) rs1554751136
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn) rs2132016533
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro) rs371697266
NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)
NM_001079802.2(FKTN):c.314G>T (p.Cys105Phe) rs786205597
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.370-2A>G rs1554752805
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.378del (p.Trp126fs)
NM_001079802.2(FKTN):c.398del (p.Met133fs)
NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del) rs1176794033
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.454dup (p.Ser152fs) rs587777748
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu) rs119464997
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001079802.2(FKTN):c.528dup (p.His177fs) rs1588112379
NM_001079802.2(FKTN):c.530A>G (p.His177Arg) rs773322779
NM_001079802.2(FKTN):c.531T>A (p.His177Gln) rs534638144
NM_001079802.2(FKTN):c.557A>G (p.His186Arg) rs1448279636
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.648-1243G>T rs1554754182
NM_001079802.2(FKTN):c.658_661del (p.Gln220fs) rs1057517160
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile) rs1293245717
NM_001079802.2(FKTN):c.69dup (p.Gln24fs)
NM_001079802.2(FKTN):c.705A>G (p.Pro235=) rs1829190548
NM_001079802.2(FKTN):c.711C>G (p.His237Gln) rs562170364
NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
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.788T>G (p.Leu263Arg) rs1564318575
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter) rs369797361
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg) rs2133099564
NM_001079802.2(FKTN):c.840dup (p.Leu281fs)
NM_001079802.2(FKTN):c.910+7T>G rs1830641729
NM_001079802.2(FKTN):c.911-13A>G rs766103012
NM_001079802.2(FKTN):c.915G>C (p.Trp305Cys)
NM_001079802.2(FKTN):c.934A>G (p.Ile312Val) rs2133161218
NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)
NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly) rs759791267
NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del
NM_001101426.4(CRPPA):c.(534+1_535-1)_(933+1_934-1)del
NM_001101426.4(CRPPA):c.-14_10del (p.Met1_Gly4del)
NM_001101426.4(CRPPA):c.1008C>T (p.Tyr336=) rs1783720072
NM_001101426.4(CRPPA):c.1017T>A (p.Val339=) rs773884120
NM_001101426.4(CRPPA):c.1017T>C (p.Val339=) rs773884120
NM_001101426.4(CRPPA):c.101G>A (p.Ser34Asn)
NM_001101426.4(CRPPA):c.1026+15A>G
NM_001101426.4(CRPPA):c.1026+5G>C rs762349005
NM_001101426.4(CRPPA):c.1027-18A>G
NM_001101426.4(CRPPA):c.1040A>T (p.Asp347Val) rs1583472575
NM_001101426.4(CRPPA):c.1081A>G (p.Ser361Gly)
NM_001101426.4(CRPPA):c.1082G>A (p.Ser361Asn) rs2128412318
NM_001101426.4(CRPPA):c.108C>G (p.Ala36=) rs1319812253
NM_001101426.4(CRPPA):c.1092C>A (p.Cys364Ter)
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.1112T>C (p.Val371Ala)
NM_001101426.4(CRPPA):c.1119+13A>G rs2128412301
NM_001101426.4(CRPPA):c.1119+19G>T rs755221887
NM_001101426.4(CRPPA):c.1119+3A>G rs1783701192
NM_001101426.4(CRPPA):c.1120-12T>C rs1331188356
NM_001101426.4(CRPPA):c.1120-12del
NM_001101426.4(CRPPA):c.1120-17T>C
NM_001101426.4(CRPPA):c.1120-1G>T rs397515396
NM_001101426.4(CRPPA):c.1120-3C>G
NM_001101426.4(CRPPA):c.1120-4G>C rs886042445
NM_001101426.4(CRPPA):c.1120-7T>C rs2128398361
NM_001101426.4(CRPPA):c.1122T>G (p.Val374=)
NM_001101426.4(CRPPA):c.1133A>G (p.Asp378Gly) rs1391543167
NM_001101426.4(CRPPA):c.1137dup (p.Lys380Ter)
NM_001101426.4(CRPPA):c.1139A>T (p.Lys380Ile) rs747075828
NM_001101426.4(CRPPA):c.1147C>A (p.Pro383Thr) rs571551238
NM_001101426.4(CRPPA):c.1148C>A (p.Pro383His) rs758393771
NM_001101426.4(CRPPA):c.1152C>T (p.Pro384=)
NM_001101426.4(CRPPA):c.1155T>C (p.Ser385=)
NM_001101426.4(CRPPA):c.1167A>G (p.Glu389=) rs2128398327
NM_001101426.4(CRPPA):c.1175T>G (p.Met392Arg) rs1782301148
NM_001101426.4(CRPPA):c.1183A>G (p.Arg395Gly) rs957843384
NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter) rs886042554
NM_001101426.4(CRPPA):c.118C>G (p.Pro40Ala)
NM_001101426.4(CRPPA):c.1194A>C (p.Ala398=) rs769147263
NM_001101426.4(CRPPA):c.1198G>T (p.Glu400Ter) rs1453431411
NM_001101426.4(CRPPA):c.1203A>G (p.Val401=)
NM_001101426.4(CRPPA):c.1206del (p.Glu403fs)
NM_001101426.4(CRPPA):c.1219T>C (p.Leu407=)
NM_001101426.4(CRPPA):c.121G>A (p.Gly41Arg)
NM_001101426.4(CRPPA):c.1224A>T (p.Leu408Phe) rs931469039
NM_001101426.4(CRPPA):c.123G>A (p.Gly41=) rs761842188
NM_001101426.4(CRPPA):c.124C>T (p.Arg42Cys) rs1415518757
NM_001101426.4(CRPPA):c.1251+17T>A rs2128398264
NM_001101426.4(CRPPA):c.1251+7A>T
NM_001101426.4(CRPPA):c.1252-3C>T rs2128361106
NM_001101426.4(CRPPA):c.1252G>T (p.Asp418Tyr) rs1781843954
NM_001101426.4(CRPPA):c.1257T>C (p.Asp419=) rs2128361098
NM_001101426.4(CRPPA):c.1263G>A (p.Lys421=)
NM_001101426.4(CRPPA):c.1269G>A (p.Gln423=)
NM_001101426.4(CRPPA):c.1272G>C (p.Glu424Asp) rs2064970438
NM_001101426.4(CRPPA):c.1275T>A (p.Ser425Arg) rs1781843424
NM_001101426.4(CRPPA):c.1310T>C (p.Ile437Thr)
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001101426.4(CRPPA):c.1320A>G (p.Arg440=) rs1474282728
NM_001101426.4(CRPPA):c.1338T>A (p.Gly446=)
NM_001101426.4(CRPPA):c.1338T>G (p.Gly446=) rs1424229425
NM_001101426.4(CRPPA):c.1350A>G (p.Ile450Met) rs1781841345
NM_001101426.4(CRPPA):c.1354T>C (p.Ter452Arg) rs186882839
NM_001101426.4(CRPPA):c.138C>G (p.Ala46=) rs1162623078
NM_001101426.4(CRPPA):c.159C>A (p.Ala53=)
NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp) rs1036959263
NM_001101426.4(CRPPA):c.161G>C (p.Gly54Ala) rs587777797
NM_001101426.4(CRPPA):c.165del (p.Cys56fs) rs1554371369
NM_001101426.4(CRPPA):c.172G>A (p.Glu58Lys)
NM_001101426.4(CRPPA):c.178A>T (p.Met60Leu)
NM_001101426.4(CRPPA):c.17_24dup (p.Ala9fs)
NM_001101426.4(CRPPA):c.181G>C (p.Gly61Arg)
NM_001101426.4(CRPPA):c.184del (p.Val62fs) rs1048457038
NM_001101426.4(CRPPA):c.211A>G (p.Ile71Val)
NM_001101426.4(CRPPA):c.21_44del (p.Ser8_Gly15del)
NM_001101426.4(CRPPA):c.220A>G (p.Arg74Gly) rs1788324318
NM_001101426.4(CRPPA):c.221G>T (p.Arg74Met) rs1292380177
NM_001101426.4(CRPPA):c.245A>C (p.Gln82Pro) rs949985964
NM_001101426.4(CRPPA):c.245A>G (p.Gln82Arg) rs949985964
NM_001101426.4(CRPPA):c.246G>A (p.Gln82=) rs2128321451
NM_001101426.4(CRPPA):c.247G>T (p.Ala83Ser) rs2128321450
NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter) rs397514548
NM_001101426.4(CRPPA):c.257+11G>A
NM_001101426.4(CRPPA):c.257+17C>A rs895474080
NM_001101426.4(CRPPA):c.257+7C>G
NM_001101426.4(CRPPA):c.257+8G>A rs966346002
NM_001101426.4(CRPPA):c.258-18C>T
NM_001101426.4(CRPPA):c.258-19A>G rs747712011
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.258-2A>G
NM_001101426.4(CRPPA):c.258-3T>G rs899936625
NM_001101426.4(CRPPA):c.258-8C>T rs750772320
NM_001101426.4(CRPPA):c.25G>A (p.Ala9Thr) rs909976918
NM_001101426.4(CRPPA):c.262T>C (p.Cys88Arg) rs1384501487
NM_001101426.4(CRPPA):c.288A>G (p.Ala96=) rs374684209
NM_001101426.4(CRPPA):c.303C>A (p.Asn101Lys) rs1787953727
NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile) rs1190661385
NM_001101426.4(CRPPA):c.327T>A (p.Ile109=) rs2128318470
NM_001101426.4(CRPPA):c.32C>T (p.Pro11Leu) rs192925278
NM_001101426.4(CRPPA):c.334T>G (p.Tyr112Asp) rs1281479457
NM_001101426.4(CRPPA):c.337C>T (p.Gln113Ter)
NM_001101426.4(CRPPA):c.344_345insT (p.Lys115fs)
NM_001101426.4(CRPPA):c.346C>G (p.Arg116Gly)
NM_001101426.4(CRPPA):c.351C>T (p.Ile117=)
NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln) rs1356080750
NM_001101426.4(CRPPA):c.360C>G (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro) rs387907162
NM_001101426.4(CRPPA):c.368G>T (p.Gly123Val) rs2128318458
NM_001101426.4(CRPPA):c.36_44del (p.Glu13_Gly15del) rs990740417
NM_001101426.4(CRPPA):c.376C>G (p.Arg126Gly) rs1472549168
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys) rs1472549168
NM_001101426.4(CRPPA):c.377G>A (p.Arg126His)
NM_001101426.4(CRPPA):c.381C>T (p.His127=)
NM_001101426.4(CRPPA):c.384G>A (p.Arg128=) rs759742555
NM_001101426.4(CRPPA):c.387A>C (p.Ser129=)
NM_001101426.4(CRPPA):c.393C>T (p.Phe131=)
NM_001101426.4(CRPPA):c.394A>T (p.Asn132Tyr) rs2128318452
NM_001101426.4(CRPPA):c.408A>G (p.Ala136=) rs541412708
NM_001101426.4(CRPPA):c.411G>C (p.Leu137=)
NM_001101426.4(CRPPA):c.412G>T (p.Ala138Ser) rs1787948983
NM_001101426.4(CRPPA):c.425T>A (p.Ile142Asn) rs1554363950
NM_001101426.4(CRPPA):c.426C>G (p.Ile142Met)
NM_001101426.4(CRPPA):c.43G>T (p.Gly15Cys) rs1314652586
NM_001101426.4(CRPPA):c.441T>C (p.Ser147=)
NM_001101426.4(CRPPA):c.44G>T (p.Gly15Val) rs573488291
NM_001101426.4(CRPPA):c.45T>A (p.Gly15=)
NM_001101426.4(CRPPA):c.463C>T (p.His155Tyr)
NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn) rs397514547
NM_001101426.4(CRPPA):c.496G>A (p.Val166Ile) rs2128318425
NM_001101426.4(CRPPA):c.508G>A (p.Val170Ile) rs762819997
NM_001101426.4(CRPPA):c.509T>G (p.Val170Gly)
NM_001101426.4(CRPPA):c.526G>A (p.Glu176Lys) rs2128318414
NM_001101426.4(CRPPA):c.52C>G (p.Leu18Val) rs886043287
NM_001101426.4(CRPPA):c.52dup (p.Leu18fs) rs2128321527
NM_001101426.4(CRPPA):c.534+13dup
NM_001101426.4(CRPPA):c.534+18A>G rs2128318410
NM_001101426.4(CRPPA):c.534+1del
NM_001101426.4(CRPPA):c.534G>C (p.Gly178=) rs200798632
NM_001101426.4(CRPPA):c.535-20T>G rs2128312096
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs) rs2128321525
NM_001101426.4(CRPPA):c.550C>G (p.Arg184Gly) rs370499190
NM_001101426.4(CRPPA):c.561A>T (p.Val187=) rs376375569
NM_001101426.4(CRPPA):c.565A>T (p.Thr189Ser) rs1786881434
NM_001101426.4(CRPPA):c.577C>T (p.Pro193Ser) rs1275411039
NM_001101426.4(CRPPA):c.585T>G (p.Ala195=)
NM_001101426.4(CRPPA):c.602A>T (p.Tyr201Phe) rs1198960792
NM_001101426.4(CRPPA):c.606G>C (p.Ser202=)
NM_001101426.4(CRPPA):c.614G>T (p.Arg205Leu)
NM_001101426.4(CRPPA):c.621A>G (p.Arg207=)
NM_001101426.4(CRPPA):c.623A>G (p.His208Arg)
NM_001101426.4(CRPPA):c.634G>A (p.Glu212Lys) rs2128312068
NM_001101426.4(CRPPA):c.635A>C (p.Glu212Ala) rs2128312067
NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg) rs397515408
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr) rs886043226
NM_001101426.4(CRPPA):c.641C>T (p.Pro214Leu)
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys) rs370627877
NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser) rs1786876478
NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp) rs387907160
NM_001101426.4(CRPPA):c.654A>C (p.Leu218=)
NM_001101426.4(CRPPA):c.657T>C (p.Phe219=)
NM_001101426.4(CRPPA):c.659A>G (p.Asp220Gly) rs769223335
NM_001101426.4(CRPPA):c.669T>C (p.Tyr223=)
NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly) rs1786875241
NM_001101426.4(CRPPA):c.684+11G>A
NM_001101426.4(CRPPA):c.684+12G>A rs376232862
NM_001101426.4(CRPPA):c.684+13G>A
NM_001101426.4(CRPPA):c.684+14C>G
NM_001101426.4(CRPPA):c.684+16T>C
NM_001101426.4(CRPPA):c.685-25GTT[4] rs142647500
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.686G>A (p.Cys229Tyr) rs2128424737
NM_001101426.4(CRPPA):c.691G>C (p.Asp231His) rs1784967390
NM_001101426.4(CRPPA):c.6G>T (p.Glu2Asp) rs2128321553
NM_001101426.4(CRPPA):c.6_13dup (p.Pro5fs)
NM_001101426.4(CRPPA):c.704_705del (p.Glu235fs) rs781097746
NM_001101426.4(CRPPA):c.706T>G (p.Phe236Val)
NM_001101426.4(CRPPA):c.711A>G (p.Gly237=)
NM_001101426.4(CRPPA):c.713C>G (p.Thr238Ser) rs397515409
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) rs397515409
NM_001101426.4(CRPPA):c.723G>A (p.Leu241=) rs754775519
NM_001101426.4(CRPPA):c.729G>T (p.Leu243Phe) rs1784965639
NM_001101426.4(CRPPA):c.735A>G (p.Leu245=)
NM_001101426.4(CRPPA):c.737A>G (p.Lys246Arg) rs1583508021
NM_001101426.4(CRPPA):c.75C>T (p.Asp25=) rs1292034515
NM_001101426.4(CRPPA):c.764T>C (p.Val255Ala) rs2128424716
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter) rs1466219701
NM_001101426.4(CRPPA):c.77A>C (p.His26Pro) rs886044190
NM_001101426.4(CRPPA):c.784T>A (p.Trp262Arg)
NM_001101426.4(CRPPA):c.789+10A>T
NM_001101426.4(CRPPA):c.789+2T>G rs397515397
NM_001101426.4(CRPPA):c.789+89A>C
NM_001101426.4(CRPPA):c.789+89_789+90delinsGA
NM_001101426.4(CRPPA):c.790-1G>C rs2128422954
NM_001101426.4(CRPPA):c.79_80del (p.Thr27fs)
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) rs368593151
NM_001101426.4(CRPPA):c.816G>A (p.Ala272=) rs754348253
NM_001101426.4(CRPPA):c.816G>T (p.Ala272=) rs754348253
NM_001101426.4(CRPPA):c.824C>T (p.Ser275Leu) rs1784787407
NM_001101426.4(CRPPA):c.82G>C (p.Ala28Pro) rs2128321512
NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter) rs387907161
NM_001101426.4(CRPPA):c.835+14T>G
NM_001101426.4(CRPPA):c.836-16T>A
NM_001101426.4(CRPPA):c.836-16_836-15insC
NM_001101426.4(CRPPA):c.836-19_836-18dup rs3839757
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001101426.4(CRPPA):c.836-5T>G rs1583487698
NM_001101426.4(CRPPA):c.836-9del rs3839757
NM_001101426.4(CRPPA):c.845C>T (p.Ser282Phe)
NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu) rs750477422
NM_001101426.4(CRPPA):c.854T>G (p.Ile285Ser)
NM_001101426.4(CRPPA):c.861A>C (p.Val287=)
NM_001101426.4(CRPPA):c.864T>C (p.Val288=)
NM_001101426.4(CRPPA):c.865A>G (p.Met289Val)
NM_001101426.4(CRPPA):c.866T>G (p.Met289Arg)
NM_001101426.4(CRPPA):c.868G>A (p.Asp290Asn) rs1784249249
NM_001101426.4(CRPPA):c.869A>G (p.Asp290Gly)
NM_001101426.4(CRPPA):c.872C>A (p.Thr291Lys) rs764380983
NM_001101426.4(CRPPA):c.872C>T (p.Thr291Ile)
NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg) rs1583487638
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs) rs1554305719
NM_001101426.4(CRPPA):c.888A>G (p.Lys296=)
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg) rs373890080
NM_001101426.4(CRPPA):c.895G>T (p.Gly299Cys) rs373890080
NM_001101426.4(CRPPA):c.896del (p.Gly299fs)
NM_001101426.4(CRPPA):c.907G>C (p.Glu303Gln)
NM_001101426.4(CRPPA):c.915G>A (p.Val305=) rs1466053365
NM_001101426.4(CRPPA):c.933+1G>A rs1784247205
NM_001101426.4(CRPPA):c.933+5G>C rs1554305652
NM_001101426.4(CRPPA):c.934-14T>A
NM_001101426.4(CRPPA):c.934-16T>C
NM_001101426.4(CRPPA):c.934-4C>A
NM_001101426.4(CRPPA):c.934-5A>G rs886043337
NM_001101426.4(CRPPA):c.934-6T>A
NM_001101426.4(CRPPA):c.945C>T (p.Val315=) rs1554300356
NM_001101426.4(CRPPA):c.963T>C (p.Gly321=)
NM_001101426.4(CRPPA):c.981T>A (p.Leu327=)
NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val) rs886044693
NM_001101426.4(CRPPA):c.992T>C (p.Ile331Thr) rs369141466
NM_001101426.4(CRPPA):c.994T>C (p.Leu332=) rs2128412518
NM_001101426.4(CRPPA):c.999T>A (p.Asp333Glu) rs376909665
NM_001101426.4(CRPPA):c.9C>T (p.Ala3=)
NM_004393.6(DAG1):c.2194C>A (p.Pro732Thr) rs1406481422
NM_005963.4(MYH1):c.1295A>C (p.Lys432Thr)
NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]
NM_006731.2:c.911-24_911-23insN[1200]
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) rs730882237
NM_007171.4(POMT1):c.429_430del
NM_013382.5(POMT2):c.1170_1171del rs764210532
NM_013382.5(POMT2):c.[1170_1171delTA];[1261C>T]
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.1000C>T (p.Pro334Ser) rs1890916653
NM_013382.7(POMT2):c.1006+16C>G
NM_013382.7(POMT2):c.1006+4_1006+7del rs1594794303
NM_013382.7(POMT2):c.1006+9C>T
NM_013382.7(POMT2):c.1006C>A (p.His336Asn) rs765103940
NM_013382.7(POMT2):c.1007-11C>G
NM_013382.7(POMT2):c.1007-12C>T
NM_013382.7(POMT2):c.1007-13C>G
NM_013382.7(POMT2):c.1007-15C>T
NM_013382.7(POMT2):c.1007-17G>C
NM_013382.7(POMT2):c.1007-20G>A
NM_013382.7(POMT2):c.1007-20G>T
NM_013382.7(POMT2):c.1007-9T>G
NM_013382.7(POMT2):c.1009C>T (p.Leu337=) rs777184206
NM_013382.7(POMT2):c.1012G>A (p.Ala338Thr) rs771636400
NM_013382.7(POMT2):c.102C>G (p.Ala34=) rs886044233
NM_013382.7(POMT2):c.1030A>C (p.Thr344Pro) rs1285454398
NM_013382.7(POMT2):c.1034_1035del (p.Val345fs) rs1890825132
NM_013382.7(POMT2):c.1040A>C (p.Asn347Thr) rs371158744
NM_013382.7(POMT2):c.1044C>T (p.Leu348=) rs267604062
NM_013382.7(POMT2):c.1045C>G (p.Arg349Gly) rs141339355
NM_013382.7(POMT2):c.1046_1052del (p.Arg349fs)
NM_013382.7(POMT2):c.1048A>G (p.Met350Val) rs749883166
NM_013382.7(POMT2):c.1051del (p.Ala351fs)
NM_013382.7(POMT2):c.1056C>T (p.Ile352=)
NM_013382.7(POMT2):c.1071C>G (p.Ser357=)
NM_013382.7(POMT2):c.1074C>T (p.His358=)
NM_013382.7(POMT2):c.1077G>A (p.Arg359=)
NM_013382.7(POMT2):c.1088C>T (p.Pro363Leu) rs2140218751
NM_013382.7(POMT2):c.1103C>T (p.Ala368Val) rs1890820771
NM_013382.7(POMT2):c.1105C>A (p.Arg369Ser)
NM_013382.7(POMT2):c.1108C>A (p.Gln370Lys)
NM_013382.7(POMT2):c.1110G>A (p.Gln370=)
NM_013382.7(POMT2):c.1116+10C>T
NM_013382.7(POMT2):c.1116+17T>C
NM_013382.7(POMT2):c.1116+8A>C
NM_013382.7(POMT2):c.1117-11C>T
NM_013382.7(POMT2):c.1117-12C>A rs535647699
NM_013382.7(POMT2):c.1117-12C>G rs535647699
NM_013382.7(POMT2):c.1117-12C>T
NM_013382.7(POMT2):c.1117-14C>A
NM_013382.7(POMT2):c.1117-16CCCACCC[3]
NM_013382.7(POMT2):c.1117-17C>G
NM_013382.7(POMT2):c.1117-19G>A
NM_013382.7(POMT2):c.1117-19G>T
NM_013382.7(POMT2):c.1117-7C>A
NM_013382.7(POMT2):c.1117-7C>G rs201921627
NM_013382.7(POMT2):c.1117-7C>T rs201921627
NM_013382.7(POMT2):c.1117-7del
NM_013382.7(POMT2):c.1117G>C (p.Val373Leu)
NM_013382.7(POMT2):c.1117G>T (p.Val373Phe) rs267606965
NM_013382.7(POMT2):c.1119C>T (p.Val373=)
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs) rs886042401
NM_013382.7(POMT2):c.1130T>A (p.Leu377Ter)
NM_013382.7(POMT2):c.1133A>G (p.His378Arg) rs867000155
NM_013382.7(POMT2):c.1137G>A (p.Lys379=)
NM_013382.7(POMT2):c.1150C>T (p.Leu384=)
NM_013382.7(POMT2):c.1158dup (p.Ile387fs)
NM_013382.7(POMT2):c.1169A>C (p.His390Pro)
NM_013382.7(POMT2):c.1179C>T (p.Asn393=)
NM_013382.7(POMT2):c.1183+11C>T
NM_013382.7(POMT2):c.1183+13G>A rs2140203548
NM_013382.7(POMT2):c.1183+1G>A
NM_013382.7(POMT2):c.1184-11C>G
NM_013382.7(POMT2):c.1184-12T>A
NM_013382.7(POMT2):c.1184-19G>C
NM_013382.7(POMT2):c.1184-1G>C
NM_013382.7(POMT2):c.1184-5G>T
NM_013382.7(POMT2):c.1187C>T (p.Pro396Leu)
NM_013382.7(POMT2):c.1189C>G (p.Leu397Val)
NM_013382.7(POMT2):c.118C>G (p.Arg40Gly) rs755650000
NM_013382.7(POMT2):c.118C>T (p.Arg40Ter)
NM_013382.7(POMT2):c.118_119del (p.Arg40fs)
NM_013382.7(POMT2):c.1206A>G (p.Pro402=)
NM_013382.7(POMT2):c.1210G>A (p.Glu404Lys) rs2140195392
NM_013382.7(POMT2):c.1221A>G (p.Arg407=) rs1594787171
NM_013382.7(POMT2):c.1223A>G (p.His408Arg) rs1594787166
NM_013382.7(POMT2):c.1231A>G (p.Ile411Val)
NM_013382.7(POMT2):c.1231A>T (p.Ile411Phe)
NM_013382.7(POMT2):c.1238G>A (p.Arg413Gln) rs190285831
NM_013382.7(POMT2):c.1239A>C (p.Arg413=)
NM_013382.7(POMT2):c.1243G>T (p.Glu415Ter)
NM_013382.7(POMT2):c.1248C>G (p.His416Gln) rs1566649375
NM_013382.7(POMT2):c.1253+13G>T
NM_013382.7(POMT2):c.1253+16del
NM_013382.7(POMT2):c.1253+5G>A
NM_013382.7(POMT2):c.1254-13_1254-12del rs2140188664
NM_013382.7(POMT2):c.1254-16C>G
NM_013382.7(POMT2):c.1254-2A>G
NM_013382.7(POMT2):c.1254-3T>C rs766683771
NM_013382.7(POMT2):c.1254-6T>G
NM_013382.7(POMT2):c.1254-9A>G rs1594890973
NM_013382.7(POMT2):c.1261C>A (p.Arg421=)
NM_013382.7(POMT2):c.1261del (p.Arg421fs) rs587777815
NM_013382.7(POMT2):c.1265A>G (p.Asn422Ser) rs2140188544
NM_013382.7(POMT2):c.1271A>G (p.His424Arg) rs1359158673
NM_013382.7(POMT2):c.1272C>T (p.His424=) rs1328987547
NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)
NM_013382.7(POMT2):c.1282_1284del (p.His428del) rs1594890912
NM_013382.7(POMT2):c.1291C>T (p.Pro431Ser)
NM_013382.7(POMT2):c.1293C>T (p.Pro431=)
NM_013382.7(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.7(POMT2):c.129_131del (p.Arg44del)
NM_013382.7(POMT2):c.12C>T (p.Ala4=)
NM_013382.7(POMT2):c.1300del (p.Arg434fs) rs2140188352
NM_013382.7(POMT2):c.1301G>A (p.Arg434Gln)
NM_013382.7(POMT2):c.130C>A (p.Arg44=) rs2139551017
NM_013382.7(POMT2):c.1310A>G (p.Tyr437Cys)
NM_013382.7(POMT2):c.1311T>G (p.Tyr437Ter)
NM_013382.7(POMT2):c.1317C>T (p.Val439=) rs898725472
NM_013382.7(POMT2):c.1329_1332+5del rs1566648219
NM_013382.7(POMT2):c.1332+10C>A
NM_013382.7(POMT2):c.1332+10del
NM_013382.7(POMT2):c.1332+12A>G
NM_013382.7(POMT2):c.1332+17G>A
NM_013382.7(POMT2):c.1332+19T>C
NM_013382.7(POMT2):c.1332+19T>G rs1057522317
NM_013382.7(POMT2):c.1332+20G>A
NM_013382.7(POMT2):c.1332+6_1332+9del rs781093215
NM_013382.7(POMT2):c.1332+8A>C
NM_013382.7(POMT2):c.1333-14G>A rs918556979
NM_013382.7(POMT2):c.1333-16T>C
NM_013382.7(POMT2):c.1333-17C>A
NM_013382.7(POMT2):c.1333-6T>C
NM_013382.7(POMT2):c.133C>G (p.Pro45Ala) rs780976004
NM_013382.7(POMT2):c.1341_1342del (p.Asp449fs)
NM_013382.7(POMT2):c.1348T>G (p.Ser450Ala)
NM_013382.7(POMT2):c.134C>G (p.Pro45Arg) rs753037500
NM_013382.7(POMT2):c.134C>T (p.Pro45Leu) rs753037500
NM_013382.7(POMT2):c.1350A>T (p.Ser450=) rs750632019
NM_013382.7(POMT2):c.135T>A (p.Pro45=) rs1891844737
NM_013382.7(POMT2):c.1367T>C (p.Ile456Thr) rs1890397099
NM_013382.7(POMT2):c.1371G>A (p.Glu457=)
NM_013382.7(POMT2):c.1374C>T (p.Val458=)
NM_013382.7(POMT2):c.1382G>A (p.Arg461Lys) rs1030338170
NM_013382.7(POMT2):c.1385A>G (p.Lys462Arg)
NM_013382.7(POMT2):c.138T>C (p.Ala46=)
NM_013382.7(POMT2):c.1394A>G (p.Asn465Ser)
NM_013382.7(POMT2):c.1396C>A (p.Arg466=) rs763119319
NM_013382.7(POMT2):c.139_145del (p.Trp47fs)
NM_013382.7(POMT2):c.13A>T (p.Thr5Ser) rs1891858162
NM_013382.7(POMT2):c.1412_1413dup (p.Ser472fs)
NM_013382.7(POMT2):c.1413_1414del (p.Arg473fs)
NM_013382.7(POMT2):c.141G>A (p.Trp47Ter)
NM_013382.7(POMT2):c.1423C>A (p.Arg475Ser) rs746000047
NM_013382.7(POMT2):c.1426T>C (p.Phe476Leu) rs727502856
NM_013382.7(POMT2):c.1445G>T (p.Gly482Val) rs267606968
NM_013382.7(POMT2):c.1452C>T (p.Val484=)
NM_013382.7(POMT2):c.1453C>T (p.Leu485=)
NM_013382.7(POMT2):c.1461C>T (p.Ser487=)
NM_013382.7(POMT2):c.1464G>A (p.Ser488=) rs375698520
NM_013382.7(POMT2):c.1464G>T (p.Ser488=)
NM_013382.7(POMT2):c.1467A>T (p.Gly489=) rs1555352583
NM_013382.7(POMT2):c.1471G>C (p.Val491Leu)
NM_013382.7(POMT2):c.1479C>T (p.Pro493=) rs769462000
NM_013382.7(POMT2):c.1480A>G (p.Lys494Glu)
NM_013382.7(POMT2):c.1482G>A (p.Lys494=)
NM_013382.7(POMT2):c.1484+13G>A
NM_013382.7(POMT2):c.1484+19G>T
NM_013382.7(POMT2):c.1484+1G>A
NM_013382.7(POMT2):c.1484+1_1484+3dup rs1890389214
NM_013382.7(POMT2):c.1484+5G>A
NM_013382.7(POMT2):c.1484+7C>T
NM_013382.7(POMT2):c.1485-14T>C
NM_013382.7(POMT2):c.1485-20G>A
NM_013382.7(POMT2):c.148C>T (p.Arg50Trp) rs550420394
NM_013382.7(POMT2):c.1494G>A (p.Glu498=)
NM_013382.7(POMT2):c.1495C>T (p.Gln499Ter)
NM_013382.7(POMT2):c.14C>G (p.Thr5Arg) rs760413289
NM_013382.7(POMT2):c.1527A>G (p.Lys509=)
NM_013382.7(POMT2):c.1536C>T (p.Leu512=)
NM_013382.7(POMT2):c.1538A>G (p.Asn513Ser)
NM_013382.7(POMT2):c.1539C>T (p.Asn513=)
NM_013382.7(POMT2):c.153C>T (p.Arg51=)
NM_013382.7(POMT2):c.1540T>A (p.Ser514Thr) rs1566647081
NM_013382.7(POMT2):c.1555G>T (p.Glu519Ter) rs1379963762
NM_013382.7(POMT2):c.1568A>G (p.Asn523Ser) rs886042386
NM_013382.7(POMT2):c.1568A>T (p.Asn523Ile) rs886042386
NM_013382.7(POMT2):c.1570C>T (p.Pro524Ser) rs1421956619
NM_013382.7(POMT2):c.1571C>T (p.Pro524Leu)
NM_013382.7(POMT2):c.1574A>C (p.Lys525Thr) rs767137783
NM_013382.7(POMT2):c.1576+10G>T rs756884609
NM_013382.7(POMT2):c.1576+13A>G
NM_013382.7(POMT2):c.1576+14C>T
NM_013382.7(POMT2):c.1576+20G>A
NM_013382.7(POMT2):c.1576+5G>A rs2140182723
NM_013382.7(POMT2):c.1577-19C>T
NM_013382.7(POMT2):c.1577-7C>T
NM_013382.7(POMT2):c.1577-8T>C
NM_013382.7(POMT2):c.1577-8del rs749856419
NM_013382.7(POMT2):c.1577-8dup
NM_013382.7(POMT2):c.1577T>A (p.Leu526Ter)
NM_013382.7(POMT2):c.1593G>C (p.Leu531=)
NM_013382.7(POMT2):c.1599G>A (p.Val533=) rs768426838
NM_013382.7(POMT2):c.1604A>T (p.Gln535Leu) rs147882035
NM_013382.7(POMT2):c.160G>A (p.Ala54Thr)
NM_013382.7(POMT2):c.1621A>G (p.Ile541Val) rs2140179545
NM_013382.7(POMT2):c.1627C>G (p.Leu543Val)
NM_013382.7(POMT2):c.162G>C (p.Ala54=) rs2270420
NM_013382.7(POMT2):c.1635C>T (p.Ser545=)
NM_013382.7(POMT2):c.1637A>C (p.His546Pro)
NM_013382.7(POMT2):c.1638C>T (p.His546=) rs2140179482
NM_013382.7(POMT2):c.163dup (p.Val55fs)
NM_013382.7(POMT2):c.1645A>G (p.Met549Val) rs1555352401
NM_013382.7(POMT2):c.1653+10C>T
NM_013382.7(POMT2):c.1653+11C>A
NM_013382.7(POMT2):c.1653+14T>C
NM_013382.7(POMT2):c.1653+17C>T rs1268392742
NM_013382.7(POMT2):c.1653+20T>G
NM_013382.7(POMT2):c.1654-11C>T
NM_013382.7(POMT2):c.1654-12A>G
NM_013382.7(POMT2):c.1654-15G>C
NM_013382.7(POMT2):c.1654-2A>T
NM_013382.7(POMT2):c.1654-5T>C rs1594885955
NM_013382.7(POMT2):c.1654-5T>G
NM_013382.7(POMT2):c.1654-6A>C
NM_013382.7(POMT2):c.1654-7C>A rs578133776
NM_013382.7(POMT2):c.1655G>A (p.Gly552Glu)
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.1661del (p.Ser554fs)
NM_013382.7(POMT2):c.1664G>T (p.Gly555Val)
NM_013382.7(POMT2):c.1666C>T (p.Leu556Phe) rs1890178718
NM_013382.7(POMT2):c.1668C>G (p.Leu556=)
NM_013382.7(POMT2):c.1671A>G (p.Lys557=)
NM_013382.7(POMT2):c.1673C>T (p.Pro558Leu) rs2140169524
NM_013382.7(POMT2):c.1674C>T (p.Pro558=)
NM_013382.7(POMT2):c.168C>T (p.Gly56=) rs2139550502
NM_013382.7(POMT2):c.16G>A (p.Gly6Ser) rs751918638
NM_013382.7(POMT2):c.1704G>A (p.Trp568Ter)
NM_013382.7(POMT2):c.1706_1712del (p.His569fs) rs2140169285
NM_013382.7(POMT2):c.1709G>T (p.Trp570Leu) rs910353997
NM_013382.7(POMT2):c.1712dup (p.Ile572fs) rs780725241
NM_013382.7(POMT2):c.1713T>C (p.Pro571=)
NM_013382.7(POMT2):c.1721A>C (p.Tyr574Ser) rs142870987
NM_013382.7(POMT2):c.1721A>G (p.Tyr574Cys) rs142870987
NM_013382.7(POMT2):c.1725+11A>G
NM_013382.7(POMT2):c.1725+13G>C rs1890173997
NM_013382.7(POMT2):c.1725+14C>G
NM_013382.7(POMT2):c.1725+15T>C
NM_013382.7(POMT2):c.1725+17G>A
NM_013382.7(POMT2):c.1725+18G>C
NM_013382.7(POMT2):c.1725+19G>A
NM_013382.7(POMT2):c.1725+8C>G
NM_013382.7(POMT2):c.1726-11C>G
NM_013382.7(POMT2):c.1726-11C>T
NM_013382.7(POMT2):c.1726-19G>T rs530158780
NM_013382.7(POMT2):c.1726-1dup rs1229291913
NM_013382.7(POMT2):c.1726-20G>A
NM_013382.7(POMT2):c.1726-8T>C
NM_013382.7(POMT2):c.1726-9A>T rs747493997
NM_013382.7(POMT2):c.1730T>A (p.Leu577Gln)
NM_013382.7(POMT2):c.1738T>C (p.Ser580Pro) rs370529777
NM_013382.7(POMT2):c.1740A>C (p.Ser580=)
NM_013382.7(POMT2):c.1740_1741del (p.Val582fs)
NM_013382.7(POMT2):c.1744G>T (p.Val582Phe)
NM_013382.7(POMT2):c.1746C>A (p.Val582=)
NM_013382.7(POMT2):c.1749T>C (p.Asn583=) rs1416940075
NM_013382.7(POMT2):c.1754_1755del (p.Thr585fs) rs1555351894
NM_013382.7(POMT2):c.1767C>G (p.Val589=)
NM_013382.7(POMT2):c.1768T>C (p.Tyr590His) rs2140167504
NM_013382.7(POMT2):c.1768dup (p.Tyr590fs)
NM_013382.7(POMT2):c.1774C>T (p.Leu592Phe)
NM_013382.7(POMT2):c.1776T>G (p.Leu592=)
NM_013382.7(POMT2):c.1781A>G (p.Asn594Ser)
NM_013382.7(POMT2):c.1782C>T (p.Asn594=)
NM_013382.7(POMT2):c.1785+15A>G
NM_013382.7(POMT2):c.1785+17T>G
NM_013382.7(POMT2):c.1785+6dup
NM_013382.7(POMT2):c.1785+7G>A
NM_013382.7(POMT2):c.1785+8C>T
NM_013382.7(POMT2):c.1786-15C>G
NM_013382.7(POMT2):c.1786-2A>T
NM_013382.7(POMT2):c.1786-4A>G
NM_013382.7(POMT2):c.1786-7T>C
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter) rs1566644018
NM_013382.7(POMT2):c.1800G>C (p.Leu600=)
NM_013382.7(POMT2):c.1800G>T (p.Leu600=) rs757165656
NM_013382.7(POMT2):c.1803T>C (p.Asn601=)
NM_013382.7(POMT2):c.180G>C (p.Leu60=)
NM_013382.7(POMT2):c.1815C>T (p.Ile605=)
NM_013382.7(POMT2):c.1816G>A (p.Ala606Thr)
NM_013382.7(POMT2):c.1818C>T (p.Ala606=)
NM_013382.7(POMT2):c.1819dup (p.Leu607fs)
NM_013382.7(POMT2):c.1822T>C (p.Tyr608His)
NM_013382.7(POMT2):c.1828C>T (p.Leu610Phe) rs1555351859
NM_013382.7(POMT2):c.1839C>T (p.Ser613=) rs1400122508
NM_013382.7(POMT2):c.1841T>A (p.Ile614Asn)
NM_013382.7(POMT2):c.1846G>A (p.Ala616Thr)
NM_013382.7(POMT2):c.1854C>G (p.Ala618=) rs1407950406
NM_013382.7(POMT2):c.1854C>T (p.Ala618=) rs1407950406
NM_013382.7(POMT2):c.1855A>G (p.Met619Val) rs1890143383
NM_013382.7(POMT2):c.1857G>C (p.Met619Ile) rs1594885046
NM_013382.7(POMT2):c.1861_1879del (p.Gly622fs)
NM_013382.7(POMT2):c.1875G>C (p.Leu625=)
NM_013382.7(POMT2):c.1885G>A (p.Val629Ile) rs777708372
NM_013382.7(POMT2):c.1888G>T (p.Ala630Ser) rs111857094
NM_013382.7(POMT2):c.188del (p.Leu63fs)
NM_013382.7(POMT2):c.1891+12T>G
NM_013382.7(POMT2):c.1891+13G>A rs2140166262
NM_013382.7(POMT2):c.1891+14G>A
NM_013382.7(POMT2):c.1891+15G>T
NM_013382.7(POMT2):c.1891+16C>T
NM_013382.7(POMT2):c.1891+1G>C
NM_013382.7(POMT2):c.1891+2T>C rs1594884932
NM_013382.7(POMT2):c.1892-14C>G
NM_013382.7(POMT2):c.1892-15G>A
NM_013382.7(POMT2):c.1892-16T>C
NM_013382.7(POMT2):c.1892-1G>C
NM_013382.7(POMT2):c.1892-5C>T
NM_013382.7(POMT2):c.1902G>A (p.Gln634=) rs1594883867
NM_013382.7(POMT2):c.1908G>A (p.Leu636=)
NM_013382.7(POMT2):c.1909C>T (p.Leu637Phe) rs2140162404
NM_013382.7(POMT2):c.190G>T (p.Val64Leu)
NM_013382.7(POMT2):c.1911_1912delinsGT (p.Arg638Ter)
NM_013382.7(POMT2):c.1911_1934del (p.Arg638_Leu645del)
NM_013382.7(POMT2):c.1917A>G (p.Gly639=)
NM_013382.7(POMT2):c.1926G>A (p.Gln642=)
NM_013382.7(POMT2):c.1927G>A (p.Val643Ile)
NM_013382.7(POMT2):c.1927_1943del (p.Val643fs)
NM_013382.7(POMT2):c.1935C>A (p.Leu645=) rs141193672
NM_013382.7(POMT2):c.1941G>A (p.Trp647Ter) rs267606963
NM_013382.7(POMT2):c.1944A>C (p.Thr648=)
NM_013382.7(POMT2):c.1953C>T (p.Tyr651=)
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.7(POMT2):c.1958del (p.Pro653fs)
NM_013382.7(POMT2):c.1959G>T (p.Pro653=)
NM_013382.7(POMT2):c.1967del (p.Leu656fs)
NM_013382.7(POMT2):c.1981del (p.Leu661fs)
NM_013382.7(POMT2):c.1983C>T (p.Leu661=) rs1057523411
NM_013382.7(POMT2):c.1986C>T (p.Tyr662=)
NM_013382.7(POMT2):c.198G>C (p.Leu66=)
NM_013382.7(POMT2):c.1992C>T (p.His664=) rs143329994
NM_013382.7(POMT2):c.1995C>T (p.His665=)
NM_013382.7(POMT2):c.1998C>T (p.Tyr666=)
NM_013382.7(POMT2):c.2001C>G (p.Phe667Leu)
NM_013382.7(POMT2):c.2004A>C (p.Pro668=) rs750930174
NM_013382.7(POMT2):c.2021dup (p.Ser674fs)
NM_013382.7(POMT2):c.2022C>T (p.Ser674=) rs1566642798
NM_013382.7(POMT2):c.2023A>G (p.Met675Val) rs2140161882
NM_013382.7(POMT2):c.2024T>C (p.Met675Thr)
NM_013382.7(POMT2):c.2030C>A (p.Thr677Lys) rs2140161863
NM_013382.7(POMT2):c.2030C>T (p.Thr677Ile)
NM_013382.7(POMT2):c.2032+14A>C
NM_013382.7(POMT2):c.2032+15C>T rs1380951819
NM_013382.7(POMT2):c.2032+19G>T rs1300533131
NM_013382.7(POMT2):c.2032+1G>A rs2140161850
NM_013382.7(POMT2):c.2032+20_2032+25del
NM_013382.7(POMT2):c.2032+8C>T
NM_013382.7(POMT2):c.2033-11C>T
NM_013382.7(POMT2):c.2033-14C>G
NM_013382.7(POMT2):c.2033-14C>T
NM_013382.7(POMT2):c.2033-15T>C
NM_013382.7(POMT2):c.2033-18T>C
NM_013382.7(POMT2):c.2033-7C>A
NM_013382.7(POMT2):c.2034C>T (p.Gly678=)
NM_013382.7(POMT2):c.2035A>G (p.Ile679Val)
NM_013382.7(POMT2):c.2048C>A (p.Thr683Asn)
NM_013382.7(POMT2):c.2049C>T (p.Thr683=)
NM_013382.7(POMT2):c.2055G>A (p.Leu685=)
NM_013382.7(POMT2):c.2061C>T (p.Leu687=)
NM_013382.7(POMT2):c.2064T>A (p.Cys688Ter)
NM_013382.7(POMT2):c.2074T>C (p.Leu692=)
NM_013382.7(POMT2):c.2079C>T (p.Ala693=)
NM_013382.7(POMT2):c.2082A>C (p.Ser694=)
NM_013382.7(POMT2):c.2082A>G (p.Ser694=)
NM_013382.7(POMT2):c.2082A>T (p.Ser694=)
NM_013382.7(POMT2):c.2083T>C (p.Trp695Arg) rs139308429
NM_013382.7(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer) rs1566642523
NM_013382.7(POMT2):c.2088C>T (p.Pro696=)
NM_013382.7(POMT2):c.2094G>A (p.Ala698=)
NM_013382.7(POMT2):c.2101A>T (p.Ile701Leu) rs146367996
NM_013382.7(POMT2):c.2121G>A (p.Leu707=)
NM_013382.7(POMT2):c.2121G>C (p.Leu707=)
NM_013382.7(POMT2):c.2125C>G (p.Leu709Val)
NM_013382.7(POMT2):c.2128C>G (p.Leu710Val) rs2140160442
NM_013382.7(POMT2):c.2130C>T (p.Leu710=)
NM_013382.7(POMT2):c.213C>T (p.Thr71=)
NM_013382.7(POMT2):c.2142C>A (p.Ala714=)
NM_013382.7(POMT2):c.2142C>T (p.Ala714=)
NM_013382.7(POMT2):c.2144_2147+9delinsT
NM_013382.7(POMT2):c.2145C>T (p.Tyr715=)
NM_013382.7(POMT2):c.2146A>T (p.Ser716Cys)
NM_013382.7(POMT2):c.2147+10T>G
NM_013382.7(POMT2):c.2147+13G>A
NM_013382.7(POMT2):c.2147+14C>T
NM_013382.7(POMT2):c.2147+15A>G
NM_013382.7(POMT2):c.2147+1G>A
NM_013382.7(POMT2):c.2147+1del
NM_013382.7(POMT2):c.2148-14G>A
NM_013382.7(POMT2):c.2148-20C>T
NM_013382.7(POMT2):c.2151C>T (p.Phe717=)
NM_013382.7(POMT2):c.2159del (p.Phe720fs) rs1890013661
NM_013382.7(POMT2):c.2161C>T (p.His721Tyr) rs2140157155
NM_013382.7(POMT2):c.2163C>T (p.His721=)
NM_013382.7(POMT2):c.2164C>T (p.Pro722Ser) rs1890012951
NM_013382.7(POMT2):c.2166T>C (p.Pro722=)
NM_013382.7(POMT2):c.2177G>A (p.Gly726Glu) rs267606969
NM_013382.7(POMT2):c.2182G>A (p.Val728Ile) rs1367401943
NM_013382.7(POMT2):c.2190C>T (p.Pro730=)
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.7(POMT2):c.2197del (p.Gln733fs) rs1292248431
NM_013382.7(POMT2):c.219C>T (p.Phe73=)
NM_013382.7(POMT2):c.2205C>A (p.Pro735=)
NM_013382.7(POMT2):c.220C>T (p.His74Tyr) rs1398447748
NM_013382.7(POMT2):c.2214A>G (p.Pro738=) rs2140156918
NM_013382.7(POMT2):c.2223A>G (p.Gly741=) rs554801559
NM_013382.7(POMT2):c.2228G>T (p.Arg743Met) rs767359121
NM_013382.7(POMT2):c.2241A>G (p.Ser747=)
NM_013382.7(POMT2):c.2241A>T (p.Ser747=) rs751053480
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg) rs267606964
NM_013382.7(POMT2):c.2243G>C (p.Trp748Ser) rs267606967
NM_013382.7(POMT2):c.224G>C (p.Arg75Pro) rs1200964688
NM_013382.7(POMT2):c.2251T>C (p.Ter751Arg) rs1423335226
NM_013382.7(POMT2):c.227T>A (p.Leu76Ter)
NM_013382.7(POMT2):c.231C>T (p.Asp77=) rs1378921614
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.234G>A (p.Glu78=)
NM_013382.7(POMT2):c.239C>T (p.Pro80Leu) rs1195398546
NM_013382.7(POMT2):c.242A>C (p.His81Pro) rs746662519
NM_013382.7(POMT2):c.242A>G (p.His81Arg) rs746662519
NM_013382.7(POMT2):c.247T>A (p.Cys83Ser)
NM_013382.7(POMT2):c.248+13A>C
NM_013382.7(POMT2):c.248+15G>T
NM_013382.7(POMT2):c.248+16G>T rs1891826465
NM_013382.7(POMT2):c.248+18C>A
NM_013382.7(POMT2):c.248+19T>A
NM_013382.7(POMT2):c.248+1G>A
NM_013382.7(POMT2):c.248+1G>T
NM_013382.7(POMT2):c.248+5G>A
NM_013382.7(POMT2):c.249-11G>A
NM_013382.7(POMT2):c.249-15C>T
NM_013382.7(POMT2):c.249-16T>C
NM_013382.7(POMT2):c.249-18T>C
NM_013382.7(POMT2):c.249-19C>G
NM_013382.7(POMT2):c.249-19C>T
NM_013382.7(POMT2):c.249-8dup rs1891454173
NM_013382.7(POMT2):c.253del (p.Asp85fs)
NM_013382.7(POMT2):c.25C>T (p.Leu9=) rs1280735533
NM_013382.7(POMT2):c.260C>G (p.Thr87Ser)
NM_013382.7(POMT2):c.261T>C (p.Thr87=)
NM_013382.7(POMT2):c.270A>C (p.Gly90=)
NM_013382.7(POMT2):c.278G>A (p.Gly93Glu) rs1891452198
NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)
NM_013382.7(POMT2):c.288T>C (p.Tyr96=) rs2139518411
NM_013382.7(POMT2):c.292A>C (p.Asn98His)
NM_013382.7(POMT2):c.297T>C (p.Arg99=)
NM_013382.7(POMT2):c.30A>G (p.Ala10=) rs2139552052
NM_013382.7(POMT2):c.318C>T (p.His106=) rs2139518201
NM_013382.7(POMT2):c.321G>A (p.Pro107=) rs756802962
NM_013382.7(POMT2):c.322C>T (p.Pro108Ser) rs1555355402
NM_013382.7(POMT2):c.324C>T (p.Pro108=)
NM_013382.7(POMT2):c.329G>A (p.Gly110Glu) rs1891447838
NM_013382.7(POMT2):c.332A>G (p.Lys111Arg)
NM_013382.7(POMT2):c.333+10G>A
NM_013382.7(POMT2):c.333+18T>A
NM_013382.7(POMT2):c.333+1G>A
NM_013382.7(POMT2):c.333+1G>T
NM_013382.7(POMT2):c.334-13C>A
NM_013382.7(POMT2):c.334-16G>A
NM_013382.7(POMT2):c.334-3C>A rs1566658848
NM_013382.7(POMT2):c.334-8C>G
NM_013382.7(POMT2):c.33G>A (p.Glu11=) rs776638993
NM_013382.7(POMT2):c.344G>C (p.Gly115Ala) rs1594800236
NM_013382.7(POMT2):c.346C>T (p.Leu116Phe) rs1594800231
NM_013382.7(POMT2):c.35C>T (p.Ser12Phe) rs1891855792
NM_013382.7(POMT2):c.369T>C (p.Tyr123=)
NM_013382.7(POMT2):c.36C>T (p.Ser12=) rs771074829
NM_013382.7(POMT2):c.382T>C (p.Leu128=)
NM_013382.7(POMT2):c.383del (p.Leu128fs)
NM_013382.7(POMT2):c.389A>G (p.Gln130Arg) rs758643051
NM_013382.7(POMT2):c.393G>A (p.Lys131=)
NM_013382.7(POMT2):c.399G>A (p.Gly133=)
NM_013382.7(POMT2):c.406T>C (p.Tyr136His) rs1891230114
NM_013382.7(POMT2):c.411G>A (p.Glu137=)
NM_013382.7(POMT2):c.416A>G (p.His139Arg) rs1594800188
NM_013382.7(POMT2):c.435_438dup (p.Phe147fs)
NM_013382.7(POMT2):c.436G>T (p.Gly146Ter)
NM_013382.7(POMT2):c.438+12T>A rs2139500656
NM_013382.7(POMT2):c.438+16T>C
NM_013382.7(POMT2):c.438+16T>G
NM_013382.7(POMT2):c.439-18del
NM_013382.7(POMT2):c.439-6C>T
NM_013382.7(POMT2):c.447A>G (p.Ala149=)
NM_013382.7(POMT2):c.450C>T (p.Phe150=)
NM_013382.7(POMT2):c.46C>T (p.Pro16Ser) rs747944127
NM_013382.7(POMT2):c.471C>T (p.Pro157=)
NM_013382.7(POMT2):c.475G>T (p.Ala159Ser)
NM_013382.7(POMT2):c.477C>G (p.Ala159=)
NM_013382.7(POMT2):c.50G>A (p.Arg17Gln) rs753326186
NM_013382.7(POMT2):c.50_59del (p.Arg17fs)
NM_013382.7(POMT2):c.513G>A (p.Ser171=)
NM_013382.7(POMT2):c.51G>A (p.Arg17=) rs1891853487
NM_013382.7(POMT2):c.521T>C (p.Leu174Pro) rs1891164358
NM_013382.7(POMT2):c.524_533del (p.Leu175fs)
NM_013382.7(POMT2):c.530C>T (p.Ala177Val)
NM_013382.7(POMT2):c.533C>A (p.Ala178Asp)
NM_013382.7(POMT2):c.53_78dup (p.Arg27fs)
NM_013382.7(POMT2):c.543C>T (p.Thr181=) rs2139493837
NM_013382.7(POMT2):c.547+10C>T
NM_013382.7(POMT2):c.547+12T>C
NM_013382.7(POMT2):c.547+14G>T rs1404659015
NM_013382.7(POMT2):c.547+16del
NM_013382.7(POMT2):c.547+5G>A rs773914478
NM_013382.7(POMT2):c.548-11A>G
NM_013382.7(POMT2):c.548-14C>T
NM_013382.7(POMT2):c.548-16A>G
NM_013382.7(POMT2):c.548-2A>G
NM_013382.7(POMT2):c.548-9G>A rs1891100155
NM_013382.7(POMT2):c.548A>G (p.Asp183Gly) rs1891099770
NM_013382.7(POMT2):c.54G>A (p.Arg18=)
NM_013382.7(POMT2):c.552G>A (p.Thr184=)
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe) rs398124265
NM_013382.7(POMT2):c.564T>C (p.Thr188=)
NM_013382.7(POMT2):c.567G>A (p.Leu189=) rs780313126
NM_013382.7(POMT2):c.583C>G (p.Leu195Val) rs2139487023
NM_013382.7(POMT2):c.586G>A (p.Asp196Asn) rs1200584567
NM_013382.7(POMT2):c.587A>T (p.Asp196Val) rs745591622
NM_013382.7(POMT2):c.58C>T (p.Arg20Cys) rs750127630
NM_013382.7(POMT2):c.591C>T (p.Pro197=)
NM_013382.7(POMT2):c.594C>T (p.Ile198=)
NM_013382.7(POMT2):c.595C>T (p.Leu199=)
NM_013382.7(POMT2):c.604T>G (p.Phe202Val)
NM_013382.7(POMT2):c.60C>A (p.Arg20=)
NM_013382.7(POMT2):c.620T>C (p.Met207Thr) rs1326409250
NM_013382.7(POMT2):c.624G>A (p.Leu208=)
NM_013382.7(POMT2):c.627C>T (p.Ser209=)
NM_013382.7(POMT2):c.636G>C (p.Lys212Asn) rs368906346
NM_013382.7(POMT2):c.639C>T (p.Tyr213=)
NM_013382.7(POMT2):c.642C>A (p.Asn214Lys) rs1594797659
NM_013382.7(POMT2):c.645T>C (p.Ser215=)
NM_013382.7(POMT2):c.648C>A (p.Cys216Ter) rs147871747
NM_013382.7(POMT2):c.654C>T (p.Asp218=)
NM_013382.7(POMT2):c.655A>G (p.Arg219Gly)
NM_013382.7(POMT2):c.656+10T>A
NM_013382.7(POMT2):c.656+17C>T
NM_013382.7(POMT2):c.656+18C>T
NM_013382.7(POMT2):c.656+19G>A
NM_013382.7(POMT2):c.656+1G>A
NM_013382.7(POMT2):c.656+20G>T
NM_013382.7(POMT2):c.656+9C>G
NM_013382.7(POMT2):c.657-14T>A
NM_013382.7(POMT2):c.657-15C>T
NM_013382.7(POMT2):c.657-17G>A
NM_013382.7(POMT2):c.657-18C>A
NM_013382.7(POMT2):c.657-18_657-15del
NM_013382.7(POMT2):c.657-20T>G rs1032925016
NM_013382.7(POMT2):c.657-3C>T rs2139480952
NM_013382.7(POMT2):c.657-4T>G
NM_013382.7(POMT2):c.657-4del rs777481709
NM_013382.7(POMT2):c.657-7dup rs777481709
NM_013382.7(POMT2):c.657-9G>C rs1359971151
NM_013382.7(POMT2):c.658C>T (p.Pro220Ser) rs771201662
NM_013382.7(POMT2):c.659C>T (p.Pro220Leu) rs1555354184
NM_013382.7(POMT2):c.671C>T (p.Pro224Leu)
NM_013382.7(POMT2):c.672del (p.Trp225fs) rs1566656247
NM_013382.7(POMT2):c.673del (p.Trp225fs) rs1594796439
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter) rs778947923
NM_013382.7(POMT2):c.678del (p.Trp226fs) rs755660222
NM_013382.7(POMT2):c.68C>G (p.Pro23Arg) rs2139551576
NM_013382.7(POMT2):c.690C>G (p.Ser230Arg)
NM_013382.7(POMT2):c.690C>T (p.Ser230=) rs895876912
NM_013382.7(POMT2):c.6G>C (p.Pro2=)
NM_013382.7(POMT2):c.70dup (p.Gln24fs)
NM_013382.7(POMT2):c.717T>G (p.Ala239=)
NM_013382.7(POMT2):c.737G>A (p.Gly246Asp) rs267606966
NM_013382.7(POMT2):c.741C>G (p.Leu247=)
NM_013382.7(POMT2):c.745A>G (p.Ile249Val) rs1337866102
NM_013382.7(POMT2):c.74C>T (p.Ala25Val)
NM_013382.7(POMT2):c.758T>G (p.Val253Gly) rs760828168
NM_013382.7(POMT2):c.763C>G (p.Leu255Val) rs1048633441
NM_013382.7(POMT2):c.767A>T (p.Asn256Ile) rs1891021273
NM_013382.7(POMT2):c.768C>T (p.Asn256=)
NM_013382.7(POMT2):c.773T>C (p.Ile258Thr)
NM_013382.7(POMT2):c.780C>A (p.Asp260Glu)
NM_013382.7(POMT2):c.780C>T (p.Asp260=) rs2139480330
NM_013382.7(POMT2):c.781C>T (p.Leu261Phe)
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
NM_013382.7(POMT2):c.790C>T (p.Leu264=)
NM_013382.7(POMT2):c.791del (p.Leu264fs) rs1891020302
NM_013382.7(POMT2):c.795C>G (p.Phe265Leu) rs765276419
NM_013382.7(POMT2):c.7C>G (p.Pro3Ala) rs1342953034
NM_013382.7(POMT2):c.814T>C (p.Leu272=)
NM_013382.7(POMT2):c.816+14G>C
NM_013382.7(POMT2):c.816+1G>T
NM_013382.7(POMT2):c.817-10C>G rs942797478
NM_013382.7(POMT2):c.817-14G>C
NM_013382.7(POMT2):c.817-20A>G rs1566655273
NM_013382.7(POMT2):c.824_825del (p.Val275fs)
NM_013382.7(POMT2):c.827G>A (p.Gly276Glu) rs1890947139
NM_013382.7(POMT2):c.836T>A (p.Leu279Gln) rs1890946815
NM_013382.7(POMT2):c.843T>G (p.Ala281=)
NM_013382.7(POMT2):c.844C>G (p.Arg282Gly)
NM_013382.7(POMT2):c.849C>T (p.Val283=)
NM_013382.7(POMT2):c.855C>G (p.Cys285Trp)
NM_013382.7(POMT2):c.855C>T (p.Cys285=)
NM_013382.7(POMT2):c.85G>A (p.Ala29Thr)
NM_013382.7(POMT2):c.85G>T (p.Ala29Ser)
NM_013382.7(POMT2):c.866T>G (p.Leu289Arg) rs2139473885
NM_013382.7(POMT2):c.870C>T (p.Pro290=)
NM_013382.7(POMT2):c.874G>C (p.Ala292Pro) rs1312138776
NM_013382.7(POMT2):c.879C>G (p.Leu293=) rs2139473776
NM_013382.7(POMT2):c.879_880del (p.Thr295fs) rs752440109
NM_013382.7(POMT2):c.87A>G (p.Ala29=)
NM_013382.7(POMT2):c.87A>T (p.Ala29=) rs794726937
NM_013382.7(POMT2):c.884C>G (p.Thr295Arg) rs794727871
NM_013382.7(POMT2):c.884C>T (p.Thr295Ile) rs794727871
NM_013382.7(POMT2):c.894T>C (p.Phe298=)
NM_013382.7(POMT2):c.895G>A (p.Ala299Thr)
NM_013382.7(POMT2):c.903C>T (p.His301=)
NM_013382.7(POMT2):c.90C>G (p.Gly30=)
NM_013382.7(POMT2):c.90C>T (p.Gly30=) rs923004188
NM_013382.7(POMT2):c.917G>A (p.Ser306Asn)
NM_013382.7(POMT2):c.923+12G>A
NM_013382.7(POMT2):c.923+12G>T
NM_013382.7(POMT2):c.923+19C>A
NM_013382.7(POMT2):c.923+20A>G
NM_013382.7(POMT2):c.923+5A>G
NM_013382.7(POMT2):c.923+7A>G rs2139473467
NM_013382.7(POMT2):c.923+8C>T
NM_013382.7(POMT2):c.923+8_923+11del rs1272206712
NM_013382.7(POMT2):c.924-12C>G
NM_013382.7(POMT2):c.924-12C>T
NM_013382.7(POMT2):c.924-16C>T
NM_013382.7(POMT2):c.924-2A>C rs886044256
NM_013382.7(POMT2):c.924-2A>G rs886044256
NM_013382.7(POMT2):c.924-4A>G
NM_013382.7(POMT2):c.924-5C>A
NM_013382.7(POMT2):c.924-7C>T
NM_013382.7(POMT2):c.927C>T (p.Gly309=)
NM_013382.7(POMT2):c.929C>T (p.Pro310Leu)
NM_013382.7(POMT2):c.936C>G (p.Asp312Glu) rs186690580
NM_013382.7(POMT2):c.937G>A (p.Gly313Ser)
NM_013382.7(POMT2):c.957C>G (p.Phe319Leu)
NM_013382.7(POMT2):c.970T>C (p.Ser324Pro)
NM_013382.7(POMT2):c.981C>T (p.Asn327=) rs747147327
NM_013382.7(POMT2):c.985C>T (p.His329Tyr) rs2139470461
NM_013382.7(POMT2):c.989A>G (p.Asn330Ser)
NM_013382.7(POMT2):c.990T>C (p.Asn330=)
NM_013382.7(POMT2):c.997A>G (p.Ile333Val) rs1890917117
NM_013382.7(POMT2):c.9G>A (p.Pro3=) rs1594813347
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.1009T>C (p.Tyr337His) rs1553691683
NM_021971.4(GMPPB):c.1026C>T (p.Ser342=)
NM_021971.4(GMPPB):c.1027G>A (p.Val343Met)
NM_021971.4(GMPPB):c.1036C>T (p.His346Tyr)
NM_021971.4(GMPPB):c.1039_1042dup (p.Ser348Ter) rs1210040661
NM_021971.4(GMPPB):c.1040A>G (p.Lys347Arg) rs776117691
NM_021971.4(GMPPB):c.1046T>C (p.Ile349Thr)
NM_021971.4(GMPPB):c.1051_1054dup (p.Ser352Ter)
NM_021971.4(GMPPB):c.106C>T (p.His36Tyr)
NM_021971.4(GMPPB):c.1071T>A (p.Arg357=)
NM_021971.4(GMPPB):c.1077C>G (p.Ile359Met) rs1553691662
NM_021971.4(GMPPB):c.1082G>A (p.Ter361=)
NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter) rs1348189028
NM_021971.4(GMPPB):c.116A>G (p.Glu39Gly) rs1575297274
NM_021971.4(GMPPB):c.128C>T (p.Ala43Val) rs2080459950
NM_021971.4(GMPPB):c.129+1G>T rs2108213393
NM_021971.4(GMPPB):c.129+3A>G
NM_021971.4(GMPPB):c.129+6A>C
NM_021971.4(GMPPB):c.129+7C>T rs748350135
NM_021971.4(GMPPB):c.129G>A (p.Ala43=) rs2108213396
NM_021971.4(GMPPB):c.130-2A>C
NM_021971.4(GMPPB):c.132_141del (p.Gly45fs)
NM_021971.4(GMPPB):c.135C>T (p.Gly45=) rs1426684077
NM_021971.4(GMPPB):c.150C>T (p.Ile50=)
NM_021971.4(GMPPB):c.159G>T (p.Val53=) rs1575296935
NM_021971.4(GMPPB):c.15C>A (p.Ile5=) rs1464233491
NM_021971.4(GMPPB):c.15C>G (p.Ile5Met) rs1464233491
NM_021971.4(GMPPB):c.170_171delinsTC (p.Ser57Phe)
NM_021971.4(GMPPB):c.183G>C (p.Glu61Asp)
NM_021971.4(GMPPB):c.188A>C (p.Glu63Ala)
NM_021971.4(GMPPB):c.191T>G (p.Met64Arg)
NM_021971.4(GMPPB):c.210+20C>A rs1360110702
NM_021971.4(GMPPB):c.210+9_210+10del rs776779111
NM_021971.4(GMPPB):c.211-13CT[3]
NM_021971.4(GMPPB):c.211-14C>G rs2108212935
NM_021971.4(GMPPB):c.211-15dup rs368719215
NM_021971.4(GMPPB):c.211-17G>T
NM_021971.4(GMPPB):c.211-20G>A
NM_021971.4(GMPPB):c.215G>A (p.Gly72Glu) rs1245162935
NM_021971.4(GMPPB):c.218T>C (p.Ile73Thr) rs1553692045
NM_021971.4(GMPPB):c.21G>T (p.Val7=)
NM_021971.4(GMPPB):c.220C>T (p.Arg74Ter) rs397509423
NM_021971.4(GMPPB):c.221G>C (p.Arg74Pro)
NM_021971.4(GMPPB):c.225del (p.Ser76fs)
NM_021971.4(GMPPB):c.244G>A (p.Glu82Lys)
NM_021971.4(GMPPB):c.247C>G (p.Pro83Ala) rs2080451480
NM_021971.4(GMPPB):c.259+19G>A
NM_021971.4(GMPPB):c.259+3C>G
NM_021971.4(GMPPB):c.259+6T>C rs2080451289
NM_021971.4(GMPPB):c.259+9A>C rs2108212798
NM_021971.4(GMPPB):c.260-13C>G
NM_021971.4(GMPPB):c.260-7C>T
NM_021971.4(GMPPB):c.264G>A (p.Gly88=)
NM_021971.4(GMPPB):c.271G>A (p.Ala91Thr)
NM_021971.4(GMPPB):c.271_283del (p.Ala91fs) rs1191822017
NM_021971.4(GMPPB):c.287_307del (p.Leu96_Asp102del) rs1559697587
NM_021971.4(GMPPB):c.288A>G (p.Leu96=)
NM_021971.4(GMPPB):c.288_290dup (p.Leu97dup) rs777323266
NM_021971.4(GMPPB):c.291C>T (p.Leu97=)
NM_021971.4(GMPPB):c.291_294del (p.Ser98fs)
NM_021971.4(GMPPB):c.296A>G (p.Glu99Gly)
NM_021971.4(GMPPB):c.297G>C (p.Glu99Asp)
NM_021971.4(GMPPB):c.299C>T (p.Thr100Ile) rs1359728758
NM_021971.4(GMPPB):c.304G>A (p.Asp102Asn) rs368542417
NM_021971.4(GMPPB):c.308C>T (p.Pro103Leu) rs875989851
NM_021971.4(GMPPB):c.312C>A (p.Phe104Leu)
NM_021971.4(GMPPB):c.315C>T (p.Phe105=) rs1354442227
NM_021971.4(GMPPB):c.331G>A (p.Val111Met) rs141201072
NM_021971.4(GMPPB):c.338G>A (p.Cys113Tyr)
NM_021971.4(GMPPB):c.340G>T (p.Asp114Tyr)
NM_021971.4(GMPPB):c.358A>G (p.Met120Val) rs1559697515
NM_021971.4(GMPPB):c.365_366dup (p.Phe123fs) rs1553691975
NM_021971.4(GMPPB):c.36G>A (p.Thr12=)
NM_021971.4(GMPPB):c.374G>A (p.Arg125Gln) rs758366693
NM_021971.4(GMPPB):c.388G>A (p.Glu130Lys) rs367734644
NM_021971.4(GMPPB):c.388_389delinsAG (p.Glu130Arg) rs2080445379
NM_021971.4(GMPPB):c.38G>T (p.Arg13Leu) rs1183380163
NM_021971.4(GMPPB):c.402+16T>G
NM_021971.4(GMPPB):c.402+7C>T rs746420101
NM_021971.4(GMPPB):c.403-10T>G rs998425223
NM_021971.4(GMPPB):c.403-5T>C rs1559697285
NM_021971.4(GMPPB):c.433G>A (p.Gly145Ser) rs771732077
NM_021971.4(GMPPB):c.434G>C (p.Gly145Ala) rs2080436965
NM_021971.4(GMPPB):c.458_459del (p.Thr153fs) rs1553691918
NM_021971.4(GMPPB):c.465C>T (p.Arg155=) rs2080436229
NM_021971.4(GMPPB):c.472C>T (p.Arg158Trp)
NM_021971.4(GMPPB):c.473G>C (p.Arg158Pro) rs374497499
NM_021971.4(GMPPB):c.478G>C (p.Val160Leu) rs752805529
NM_021971.4(GMPPB):c.503C>A (p.Ser168Tyr)
NM_021971.4(GMPPB):c.506A>G (p.Asn169Ser)
NM_021971.4(GMPPB):c.510G>C (p.Lys170Asn) rs2080435262
NM_021971.4(GMPPB):c.524T>C (p.Met175Thr)
NM_021971.4(GMPPB):c.535A>G (p.Ser179Gly) rs2080434558
NM_021971.4(GMPPB):c.543A>G (p.Ala181=) rs2080434465
NM_021971.4(GMPPB):c.561+13C>G
NM_021971.4(GMPPB):c.561+14A>G rs1403713701
NM_021971.4(GMPPB):c.561+18G>A
NM_021971.4(GMPPB):c.562-7C>G rs2108211626
NM_021971.4(GMPPB):c.563T>C (p.Leu188Pro) rs781132109
NM_021971.4(GMPPB):c.569C>G (p.Pro190Arg) rs1559697016
NM_021971.4(GMPPB):c.584A>G (p.Lys195Arg)
NM_021971.4(GMPPB):c.584AGG[1] (p.Glu196del)
NM_021971.4(GMPPB):c.586G>C (p.Glu196Gln)
NM_021971.4(GMPPB):c.589G>T (p.Val197Phe) rs2080431779
NM_021971.4(GMPPB):c.600T>C (p.Ile200=)
NM_021971.4(GMPPB):c.607_609del (p.Lys203del) rs1553691853
NM_021971.4(GMPPB):c.612G>A (p.Glu204=)
NM_021971.4(GMPPB):c.614G>A (p.Gly205Glu)
NM_021971.4(GMPPB):c.615G>A (p.Gly205=)
NM_021971.4(GMPPB):c.618G>A (p.Gln206=) rs2108211544
NM_021971.4(GMPPB):c.618dup (p.Leu207fs)
NM_021971.4(GMPPB):c.619C>T (p.Leu207=) rs2108211541
NM_021971.4(GMPPB):c.62C>A (p.Thr21Asn) rs1438380704
NM_021971.4(GMPPB):c.638A>G (p.Gln213Arg) rs2080430729
NM_021971.4(GMPPB):c.640+15C>T
NM_021971.4(GMPPB):c.640+1G>A rs141588721
NM_021971.4(GMPPB):c.641-10C>T rs1438419966
NM_021971.4(GMPPB):c.641-11C>T
NM_021971.4(GMPPB):c.641-14A>C
NM_021971.4(GMPPB):c.641-19_641-9del rs2080428796
NM_021971.4(GMPPB):c.64C>T (p.Pro22Ser) rs397509424
NM_021971.4(GMPPB):c.654C>T (p.Asp218=)
NM_021971.4(GMPPB):c.65C>T (p.Pro22Leu)
NM_021971.4(GMPPB):c.663G>A (p.Gln221=) rs2108211356
NM_021971.4(GMPPB):c.684dup (p.Met229fs) rs2080427976
NM_021971.4(GMPPB):c.68A>G (p.Lys23Arg)
NM_021971.4(GMPPB):c.699G>A (p.Leu233=)
NM_021971.4(GMPPB):c.714G>T (p.Gln238His)
NM_021971.4(GMPPB):c.71C>T (p.Pro24Leu) rs2108213481
NM_021971.4(GMPPB):c.721C>A (p.Pro241Thr)
NM_021971.4(GMPPB):c.728_746delinsACAGA (p.Arg243fs) rs2080426663
NM_021971.4(GMPPB):c.741C>T (p.Gly247=) rs2108211246
NM_021971.4(GMPPB):c.746G>A (p.Gly249Asp) rs994922049
NM_021971.4(GMPPB):c.757A>G (p.Asn253Asp) rs1015055492
NM_021971.4(GMPPB):c.758A>G (p.Asn253Ser) rs1559696765
NM_021971.4(GMPPB):c.768+13C>T
NM_021971.4(GMPPB):c.769-10C>G rs2108211080
NM_021971.4(GMPPB):c.769-20_769-17dup rs764253773
NM_021971.4(GMPPB):c.769-2A>G rs2080423660
NM_021971.4(GMPPB):c.786C>G (p.Ile262Met) rs201123231
NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter) rs763971677
NM_021971.4(GMPPB):c.792G>C (p.Gln264His) rs1559696652
NM_021971.4(GMPPB):c.805G>T (p.Gly269Cys)
NM_021971.4(GMPPB):c.813T>C (p.Asn271=)
NM_021971.4(GMPPB):c.819C>T (p.Ser273=) rs774498980
NM_021971.4(GMPPB):c.827C>T (p.Pro276Leu) rs766298888
NM_021971.4(GMPPB):c.828T>C (p.Pro276=) rs200706198
NM_021971.4(GMPPB):c.832G>A (p.Val278Met)
NM_021971.4(GMPPB):c.840C>G (p.Val280=) rs763668055
NM_021971.4(GMPPB):c.840C>T (p.Val280=)
NM_021971.4(GMPPB):c.841G>A (p.Glu281Lys)
NM_021971.4(GMPPB):c.850G>A (p.Val284Met) rs2108210918
NM_021971.4(GMPPB):c.854G>T (p.Cys285Phe) rs2108210916
NM_021971.4(GMPPB):c.854_855del (p.Cys285fs)
NM_021971.4(GMPPB):c.859C>A (p.Arg287=) rs142908436
NM_021971.4(GMPPB):c.862C>T (p.Arg288Trp)
NM_021971.4(GMPPB):c.863G>C (p.Arg288Pro) rs769346834
NM_021971.4(GMPPB):c.878G>A (p.Arg293Gln) rs748809549
NM_021971.4(GMPPB):c.903C>G (p.Ser301=) rs2108210840
NM_021971.4(GMPPB):c.907C>T (p.Leu303Phe) rs2080420731
NM_021971.4(GMPPB):c.918C>G (p.Cys306Trp) rs1186936513
NM_021971.4(GMPPB):c.923T>G (p.Val308Gly) rs750488885
NM_021971.4(GMPPB):c.927C>A (p.Gly309=)
NM_021971.4(GMPPB):c.929G>T (p.Trp310Leu)
NM_021971.4(GMPPB):c.935G>C (p.Cys312Ser)
NM_021971.4(GMPPB):c.936C>T (p.Cys312=) rs2108210776
NM_021971.4(GMPPB):c.938G>T (p.Arg313Leu) rs775910135
NM_021971.4(GMPPB):c.940G>A (p.Val314Met) rs1343235792
NM_021971.4(GMPPB):c.940G>T (p.Val314Leu) rs1343235792
NM_021971.4(GMPPB):c.948G>C (p.Gln316His)
NM_021971.4(GMPPB):c.94C>T (p.Pro32Ser) rs1575297292
NM_021971.4(GMPPB):c.951+18G>T rs2108210687
NM_021971.4(GMPPB):c.951+9G>T rs55816606
NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)
NM_021971.4(GMPPB):c.951G>T (p.Trp317Cys)
NM_021971.4(GMPPB):c.952-12C>T
NM_021971.4(GMPPB):c.952-15T>C
NM_021971.4(GMPPB):c.952-17C>T
NM_021971.4(GMPPB):c.952-21_952-17dup
NM_021971.4(GMPPB):c.952-2A>G rs372512288
NM_021971.4(GMPPB):c.952-5del
NM_021971.4(GMPPB):c.967G>A (p.Val323Met) rs758284245
NM_021971.4(GMPPB):c.967G>T (p.Val323Leu) rs758284245
NM_021971.4(GMPPB):c.972A>G (p.Thr324=)
NM_021971.4(GMPPB):c.972dup (p.Val325fs)
NM_021971.4(GMPPB):c.984G>A (p.Glu328=) rs2108210451
NM_021971.4(GMPPB):c.997A>T (p.Asn333Tyr) rs2080415182
NM_024301.5(FKRP):c.-272G>A rs1555735545
NM_024301.5(FKRP):c.1000G>T (p.Glu334Ter)
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup) rs1599938256
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu) rs1173430388
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024301.5(FKRP):c.1020C>G (p.Tyr340Ter)
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.1051G>A (p.Ala351Thr) rs982005875
NM_024301.5(FKRP):c.1056C>T (p.Arg352=) rs886038682
NM_024301.5(FKRP):c.1067T>C (p.Ile356Thr)
NM_024301.5(FKRP):c.1077G>A (p.Trp359Ter)
NM_024301.5(FKRP):c.1078G>C (p.Asp360His) rs770195088
NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter) rs1060502109
NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)
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.1123T>A (p.Cys375Ser) rs763940706
NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg) rs2122631661
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro) rs140217866
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) rs104894680
NM_024301.5(FKRP):c.1168_1177dup (p.Val393fs)
NM_024301.5(FKRP):c.1170_1171del (p.Gly391fs) rs748087383
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys) rs1230638385
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn) rs1555739117
NM_024301.5(FKRP):c.1208del (p.Phe403fs) rs1555739119
NM_024301.5(FKRP):c.1208dup (p.Arg404fs)
NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu) rs28937904
NM_024301.5(FKRP):c.1216C>T (p.Gln406Ter)
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu) rs201497063
NM_024301.5(FKRP):c.1267del (p.Arg423fs) rs886044083
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) rs1555738085
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter) rs1599939853
NM_024301.5(FKRP):c.1307G>A (p.Arg436Gln) rs764311774
NM_024301.5(FKRP):c.1327G>A (p.Glu443Lys)
NM_024301.5(FKRP):c.1335_1336del (p.Leu446fs) rs1384878260
NM_024301.5(FKRP):c.1336del (p.Leu446fs)
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.1364C>T (p.Ala455Val) rs28937903
NM_024301.5(FKRP):c.1368C>T (p.Gly456=) rs1599940206
NM_024301.5(FKRP):c.13C>T (p.Arg5Cys) rs1060502108
NM_024301.5(FKRP):c.1415del (p.Lys472fs) rs1555739280
NM_024301.5(FKRP):c.1429G>A (p.Val477Ile) rs1424035060
NM_024301.5(FKRP):c.1466T>G (p.Leu489Arg) rs1555739321
NM_024301.5(FKRP):c.1475del (p.Thr492fs) rs1555739333
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) rs1290836394
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) rs28937905
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.163G>T (p.Glu55Ter)
NM_024301.5(FKRP):c.168C>T (p.Phe56=) rs1443120812
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys) rs773024545
NM_024301.5(FKRP):c.170_186dup (p.Val63fs) rs1555738149
NM_024301.5(FKRP):c.185C>T (p.Ala62Val) rs1448177835
NM_024301.5(FKRP):c.1A>G (p.Met1Val) rs587777223
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.217C>T (p.Gln73Ter)
NM_024301.5(FKRP):c.230_234dup (p.Val79fs) rs1555738204
NM_024301.5(FKRP):c.236TGG[2] (p.Val81del) rs2054894857
NM_024301.5(FKRP):c.261_271del (p.Tyr88fs)
NM_024301.5(FKRP):c.265C>G (p.Pro89Ala)
NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs) rs1555738245
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup) rs1220815256
NM_024301.5(FKRP):c.282C>T (p.Pro94=) rs1267805674
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu) rs1473327480
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser) rs750679682
NM_024301.5(FKRP):c.345_349del (p.Arg116fs) rs1555738311
NM_024301.5(FKRP):c.352G>T (p.Glu118Ter)
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr) rs768376273
NM_024301.5(FKRP):c.387_390dup (p.Asp131delinsThrTer) rs587777823
NM_024301.5(FKRP):c.394G>C (p.Gly132Arg) rs900304726
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp) rs104894690
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.447_451del (p.Ala150fs)
NM_024301.5(FKRP):c.464del (p.Leu155fs) rs1555738456
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro) rs727502842
NM_024301.5(FKRP):c.491A>G (p.Asn164Ser) rs1008630400
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.527G>A (p.Arg176Gln) rs755316345
NM_024301.5(FKRP):c.541C>T (p.Arg181Cys) rs777245868
NM_024301.5(FKRP):c.544del (p.Tyr182fs)
NM_024301.5(FKRP):c.545A>C (p.Tyr182Ser) rs543163491
NM_024301.5(FKRP):c.558C>A (p.Pro186=) rs1266858563
NM_024301.5(FKRP):c.558CGC[3] (p.Ala188dup) rs1555738552
NM_024301.5(FKRP):c.558dup (p.Ala187fs) rs1191737604
NM_024301.5(FKRP):c.561C>G (p.Ala187=) rs771770302
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.586G>C (p.Gly196Arg) rs759875552
NM_024301.5(FKRP):c.587G>A (p.Gly196Glu)
NM_024301.5(FKRP):c.616G>A (p.Asp206Asn) rs1037585549
NM_024301.5(FKRP):c.632del (p.Ser211fs)
NM_024301.5(FKRP):c.638C>T (p.Pro213Leu)
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp) rs2054912295
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) rs878855080
NM_024301.5(FKRP):c.656del (p.Gly219fs) rs1555738651
NM_024301.5(FKRP):c.663C>A (p.Ser221Arg) rs28937902
NM_024301.5(FKRP):c.668_669del (p.Phe223fs)
NM_024301.5(FKRP):c.675del (p.Thr226fs) rs886043706
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) rs775681117
NM_024301.5(FKRP):c.686del (p.Arg229fs) rs1555738686
NM_024301.5(FKRP):c.688_722del (p.Gly230fs) rs1555738675
NM_024301.5(FKRP):c.693G>C (p.Trp231Cys) rs2122621481
NM_024301.5(FKRP):c.696G>T (p.Ala232=) rs398124394
NM_024301.5(FKRP):c.708G>A (p.Leu236=) rs886038683
NM_024301.5(FKRP):c.712_713del (p.Leu238fs)
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr) rs757955092
NM_024301.5(FKRP):c.74_80del (p.Ser25fs)
NM_024301.5(FKRP):c.750G>A (p.Thr250=) rs1390038437
NM_024301.5(FKRP):c.761_788dup (p.Ala263_Arg264insLeuGluGlyTer)
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg) rs2054916842
NM_024301.5(FKRP):c.764G>A (p.Trp255Ter) rs104894689
NM_024301.5(FKRP):c.777C>T (p.Arg259=) rs766086486
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.780G>C (p.Glu260Asp) rs1414659732
NM_024301.5(FKRP):c.78G>A (p.Trp26Ter)
NM_024301.5(FKRP):c.795_811del (p.Ala267fs)
NM_024301.5(FKRP):c.796del (p.Ala266fs) rs1555738764
NM_024301.5(FKRP):c.835T>C (p.Trp279Arg) rs2054919937
NM_024301.5(FKRP):c.838G>A (p.Glu280Lys) rs2054920081
NM_024301.5(FKRP):c.83A>G (p.Gln28Arg) rs756205019
NM_024301.5(FKRP):c.849G>A (p.Arg283=) rs2054920441
NM_024301.5(FKRP):c.858G>A (p.Trp286Ter)
NM_024301.5(FKRP):c.859_869del (p.Phe287fs) rs1555738823
NM_024301.5(FKRP):c.881C>A (p.Thr294Lys) rs1333089122
NM_024301.5(FKRP):c.883C>G (p.Arg295Gly) rs2054921636
NM_024301.5(FKRP):c.88C>T (p.Gln30Ter)
NM_024301.5(FKRP):c.892G>T (p.Gly298Ter) rs886043401
NM_024301.5(FKRP):c.928G>C (p.Glu310Gln) rs765885747
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024301.5(FKRP):c.931G>T (p.Glu311Ter) rs1483781400
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp) rs911700598
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)
NM_024301.5(FKRP):c.938G>A (p.Trp313Ter)
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr) rs28937901
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala) rs28937901
NM_024301.5(FKRP):c.948del (p.Cys317fs) rs748798133
NM_024301.5(FKRP):c.951C>A (p.Cys317Ter)
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr) rs104894684
NM_024301.5(FKRP):c.960_970del (p.Ala321fs) rs1599937963
NM_024301.5(FKRP):c.963_964del (p.Leu322fs) rs1555738883
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly) rs867877678
NM_024301.5(FKRP):c.984T>A (p.Tyr328Ter)
NM_032237.5(POMK):c.1011A>G (p.Thr337=)
NM_032237.5(POMK):c.1044G>T (p.Glu348Asp) rs1426912299
NM_032237.5(POMK):c.110G>C (p.Cys37Ser) rs149845778
NM_032237.5(POMK):c.121T>G (p.Phe41Val) rs1811490118
NM_032237.5(POMK):c.137G>A (p.Arg46Gln)
NM_032237.5(POMK):c.150G>C (p.Val50=) rs2130601396
NM_032237.5(POMK):c.152del (p.Asp51fs) rs2130601407
NM_032237.5(POMK):c.154C>T (p.Pro52Ser)
NM_032237.5(POMK):c.174T>G (p.Gly58=)
NM_032237.5(POMK):c.181A>G (p.Arg61Gly) rs201953159
NM_032237.5(POMK):c.183G>C (p.Arg61Ser) rs778749095
NM_032237.5(POMK):c.197A>G (p.Lys66Arg)
NM_032237.5(POMK):c.208C>T (p.Pro70Ser)
NM_032237.5(POMK):c.215T>C (p.Leu72Pro) rs1811493094
NM_032237.5(POMK):c.222C>G (p.Cys74Trp)
NM_032237.5(POMK):c.223G>A (p.Glu75Lys)
NM_032237.5(POMK):c.238_239del (p.Glu80fs) rs1454006905
NM_032237.5(POMK):c.247C>T (p.Gln83Ter)
NM_032237.5(POMK):c.24C>T (p.Ser8=)
NM_032237.5(POMK):c.257G>A (p.Arg86His) rs201095843
NM_032237.5(POMK):c.259G>C (p.Val87Leu)
NM_032237.5(POMK):c.265G>A (p.Glu89Lys) rs925752217
NM_032237.5(POMK):c.276A>G (p.Val92=)
NM_032237.5(POMK):c.280A>T (p.Arg94Ter)
NM_032237.5(POMK):c.282+10G>A
NM_032237.5(POMK):c.282+12T>A rs1478878602
NM_032237.5(POMK):c.282+1G>C rs1206884841
NM_032237.5(POMK):c.283-19C>G rs748829841
NM_032237.5(POMK):c.283-6T>C
NM_032237.5(POMK):c.283-9_283-8del rs2130626184
NM_032237.5(POMK):c.28A>G (p.Arg10Gly) rs1811485587
NM_032237.5(POMK):c.311A>C (p.Lys104Thr)
NM_032237.5(POMK):c.311A>G (p.Lys104Arg)
NM_032237.5(POMK):c.312A>G (p.Lys104=)
NM_032237.5(POMK):c.315T>G (p.Val105=)
NM_032237.5(POMK):c.319C>T (p.Leu107Phe) rs867790285
NM_032237.5(POMK):c.325C>T (p.Gln109Ter) rs587777423
NM_032237.5(POMK):c.333C>T (p.Thr111=)
NM_032237.5(POMK):c.33C>A (p.Gly11=) rs967238740
NM_032237.5(POMK):c.347A>G (p.Lys116Arg) rs2130626356
NM_032237.5(POMK):c.360C>T (p.Leu120=) rs144790751
NM_032237.5(POMK):c.36C>T (p.Leu12=)
NM_032237.5(POMK):c.37G>A (p.Ala13Thr)
NM_032237.5(POMK):c.383C>T (p.Ser128Phe) rs1482823387
NM_032237.5(POMK):c.385C>T (p.Leu129Phe)
NM_032237.5(POMK):c.39C>G (p.Ala13=) rs762781994
NM_032237.5(POMK):c.39C>T (p.Ala13=)
NM_032237.5(POMK):c.401T>A (p.Val134Asp)
NM_032237.5(POMK):c.404T>A (p.Val135Asp) rs2130626484
NM_032237.5(POMK):c.407C>A (p.Thr136Lys) rs138216719
NM_032237.5(POMK):c.408G>T (p.Thr136=)
NM_032237.5(POMK):c.419A>G (p.Tyr140Cys)
NM_032237.5(POMK):c.422G>C (p.Cys141Ser)
NM_032237.5(POMK):c.436A>T (p.Thr146Ser) rs1811932910
NM_032237.5(POMK):c.437C>G (p.Thr146Ser)
NM_032237.5(POMK):c.43C>G (p.Arg15Gly) rs774013796
NM_032237.5(POMK):c.43dup (p.Arg15fs) rs749980792
NM_032237.5(POMK):c.44G>T (p.Arg15Leu)
NM_032237.5(POMK):c.450A>G (p.Glu150=) rs1811933320
NM_032237.5(POMK):c.452_455dup (p.His152fs) rs2130626601
NM_032237.5(POMK):c.454C>A (p.His152Asn)
NM_032237.5(POMK):c.456C>A (p.His152Gln) rs1363145685
NM_032237.5(POMK):c.459del (p.Pro153_Leu154insTer)
NM_032237.5(POMK):c.464G>C (p.Gly155Ala)
NM_032237.5(POMK):c.473G>A (p.Ser158Asn)
NM_032237.5(POMK):c.47A>G (p.Glu16Gly) rs1811486808
NM_032237.5(POMK):c.481G>A (p.Glu161Lys) rs2130626660
NM_032237.5(POMK):c.489A>C (p.Thr163=)
NM_032237.5(POMK):c.502A>G (p.Lys168Glu)
NM_032237.5(POMK):c.504G>A (p.Lys168=)
NM_032237.5(POMK):c.505T>C (p.Tyr169His) rs2130626707
NM_032237.5(POMK):c.520A>G (p.Thr174Ala) rs753604559
NM_032237.5(POMK):c.521C>T (p.Thr174Met)
NM_032237.5(POMK):c.522G>A (p.Thr174=)
NM_032237.5(POMK):c.53C>T (p.Pro18Leu)
NM_032237.5(POMK):c.541C>T (p.Leu181=) rs563599638
NM_032237.5(POMK):c.545C>T (p.Ala182Val) rs1811935914
NM_032237.5(POMK):c.551A>G (p.Asp184Gly)
NM_032237.5(POMK):c.553T>C (p.Tyr185His)
NM_032237.5(POMK):c.555T>C (p.Tyr185=)
NM_032237.5(POMK):c.556G>T (p.Val186Phe) rs1241051300
NM_032237.5(POMK):c.576G>A (p.Leu192=) rs1227666493
NM_032237.5(POMK):c.577C>G (p.His193Asp)
NM_032237.5(POMK):c.598C>T (p.Arg200Trp)
NM_032237.5(POMK):c.599G>A (p.Arg200Gln) rs146214675
NM_032237.5(POMK):c.599G>T (p.Arg200Leu) rs146214675
NM_032237.5(POMK):c.622C>T (p.Leu208=)
NM_032237.5(POMK):c.634C>G (p.Leu212Val)
NM_032237.5(POMK):c.641A>T (p.Gln214Leu) rs1250212576
NM_032237.5(POMK):c.642G>A (p.Gln214=)
NM_032237.5(POMK):c.645T>G (p.Tyr215Ter)
NM_032237.5(POMK):c.657C>A (p.Ser219Arg) rs1811940888
NM_032237.5(POMK):c.661T>C (p.Phe221Leu) rs1811941055
NM_032237.5(POMK):c.719T>C (p.Met240Thr) rs1811942751
NM_032237.5(POMK):c.724dup (p.Val242fs)
NM_032237.5(POMK):c.737A>G (p.His246Arg)
NM_032237.5(POMK):c.739A>G (p.Arg247Gly)
NM_032237.5(POMK):c.745C>A (p.Leu249Met) rs2130627298
NM_032237.5(POMK):c.745C>T (p.Leu249=)
NM_032237.5(POMK):c.74T>C (p.Leu25Pro) rs1811488354
NM_032237.5(POMK):c.754dup (p.Asp252fs)
NM_032237.5(POMK):c.76A>C (p.Ile26Leu) rs1586671643
NM_032237.5(POMK):c.775C>T (p.Leu259=) rs947882915
NM_032237.5(POMK):c.803del (p.Phe268fs)
NM_032237.5(POMK):c.804C>T (p.Phe268=)
NM_032237.5(POMK):c.808G>C (p.Asp270His)
NM_032237.5(POMK):c.80T>C (p.Met27Thr) rs2130601203
NM_032237.5(POMK):c.817A>T (p.Met273Leu) rs1344780295
NM_032237.5(POMK):c.822C>G (p.Pro274=) rs1331879356
NM_032237.5(POMK):c.822C>T (p.Pro274=)
NM_032237.5(POMK):c.825A>T (p.Ser275=)
NM_032237.5(POMK):c.827A>G (p.Tyr276Cys) rs1811945936
NM_032237.5(POMK):c.847del (p.Trp283fs)
NM_032237.5(POMK):c.859G>A (p.Asp287Asn)
NM_032237.5(POMK):c.859G>C (p.Asp287His) rs1811947241
NM_032237.5(POMK):c.869G>C (p.Ser290Thr)
NM_032237.5(POMK):c.874C>T (p.Leu292Phe) rs1811947580
NM_032237.5(POMK):c.883C>T (p.His295Tyr) rs1554524387
NM_032237.5(POMK):c.914A>G (p.His305Arg)
NM_032237.5(POMK):c.938G>A (p.Cys313Tyr)
NM_032237.5(POMK):c.94_98del (p.Thr32fs)
NM_032237.5(POMK):c.965C>T (p.Pro322Leu) rs747083630
NM_032237.5(POMK):c.96T>G (p.Thr32=)
NM_032237.5(POMK):c.970G>T (p.Ala324Ser)
NM_032237.5(POMK):c.979G>C (p.Val327Leu) rs546931054

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