ClinVar Miner

List of variants in gene CTC1 studied for ectodermal dysplasia syndrome

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1332
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.435+3= rs6503093 0.99999
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_025099.6(CTC1):c.*2338T>C rs8078338 0.40460
NM_025099.6(CTC1):c.*631T>G rs3027247 0.26879
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_025099.6(CTC1):c.*1807G>T rs3027251 0.06914
NM_025099.6(CTC1):c.2386-13T>G rs3027237 0.04073
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235 0.04058
NM_025099.6(CTC1):c.*1450G>A rs3027250 0.02223
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859 0.02139
NM_025099.6(CTC1):c.*2087A>G rs75503577 0.01557
NM_025099.6(CTC1):c.*43C>T rs3027245 0.01554
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_025099.6(CTC1):c.126A>G (p.Val42=) rs116271319 0.01470
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421 0.01469
NM_025099.6(CTC1):c.1307G>A (p.Arg436His) rs75790638 0.01383
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189 0.01383
NM_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682 0.01148
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=) rs115990839 0.01042
NM_025099.6(CTC1):c.197+15C>T rs111473388 0.00989
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613 0.00946
NM_025099.6(CTC1):c.*3231A>G rs139845972 0.00670
NM_025099.6(CTC1):c.*825C>T rs3027248 0.00659
NM_025099.6(CTC1):c.*2006T>C rs57270818 0.00633
NM_025099.6(CTC1):c.*2848A>C rs73975813 0.00571
NM_025099.6(CTC1):c.1617+11G>A rs114425026 0.00535
NM_025099.6(CTC1):c.*1668G>A rs114198389 0.00519
NM_025099.6(CTC1):c.*1041A>G rs148405704 0.00430
NM_025099.6(CTC1):c.*1369A>G rs150798403 0.00246
NM_025099.6(CTC1):c.*558G>A rs112446369 0.00150
NM_025099.6(CTC1):c.477G>T (p.Leu159=) rs200658590 0.00148
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00136
NM_025099.6(CTC1):c.*1844G>A rs3027252 0.00127
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter) rs147714487 0.00118
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_025099.6(CTC1):c.*1205T>G rs183725401 0.00106
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914 0.00105
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_025099.6(CTC1):c.*3186G>A rs8072826 0.00081
NM_025099.6(CTC1):c.1401C>T (p.Tyr467=) rs150409406 0.00079
NM_025099.6(CTC1):c.*2115C>G rs187344168 0.00072
NM_025099.6(CTC1):c.*234C>T rs570408909 0.00070
NM_025099.6(CTC1):c.*1410A>G rs570429563 0.00064
NM_025099.6(CTC1):c.3221+16G>A rs372958727 0.00052
NM_025099.6(CTC1):c.2522G>A (p.Arg841His) rs780358670 0.00049
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_025099.6(CTC1):c.1140G>T (p.Gly380=) rs201392995 0.00046
NM_025099.6(CTC1):c.2508C>G (p.Ser836=) rs146214808 0.00045
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691 0.00044
NM_025099.6(CTC1):c.3221+13G>C rs115684610 0.00041
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738 0.00036
NM_025099.6(CTC1):c.197+16G>A rs370799756 0.00036
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730 0.00035
NM_025099.6(CTC1):c.*1853G>A rs540866407 0.00034
NM_025099.6(CTC1):c.*460C>T rs371544637 0.00034
NM_025099.6(CTC1):c.3568G>A (p.Val1190Met) rs371036203 0.00034
NM_025099.6(CTC1):c.*797C>T rs142486253 0.00033
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp) rs199698527 0.00032
NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg) rs371046424 0.00032
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_025099.6(CTC1):c.194A>G (p.Tyr65Cys) rs201731405 0.00031
NM_025099.6(CTC1):c.2737G>A (p.Ala913Thr) rs201203345 0.00031
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317 0.00029
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu) rs376216833 0.00028
NM_025099.6(CTC1):c.3079G>A (p.Ala1027Thr) rs374126761 0.00027
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly) rs199473676 0.00026
NM_025099.6(CTC1):c.*536T>G rs533538191 0.00025
NM_025099.6(CTC1):c.1530C>T (p.Thr510=) rs376217684 0.00024
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro) rs62637612 0.00024
NM_025099.6(CTC1):c.34-9T>G rs201195157 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_025099.6(CTC1):c.*1486C>T rs574706247 0.00022
NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val) rs571554235 0.00022
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127 0.00022
NM_025099.6(CTC1):c.3515-10C>T rs200225342 0.00022
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys) rs201273283 0.00021
NM_025099.6(CTC1):c.2407T>G (p.Ser803Ala) rs199989447 0.00019
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008 0.00019
NM_025099.6(CTC1):c.3074C>T (p.Ala1025Val) rs183966301 0.00019
NM_025099.6(CTC1):c.3340C>T (p.Pro1114Ser) rs370564569 0.00019
NM_025099.6(CTC1):c.3567C>T (p.His1189=) rs374942931 0.00019
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
NM_025099.6(CTC1):c.1479A>G (p.Gln493=) rs188654013 0.00018
NM_025099.6(CTC1):c.2345G>C (p.Gly782Ala) rs530949904 0.00018
NM_025099.6(CTC1):c.*1046T>C rs550911189 0.00016
NM_025099.6(CTC1):c.*2530G>A rs780560618 0.00016
NM_025099.6(CTC1):c.3384T>C (p.Leu1128=) rs945189616 0.00016
NM_025099.6(CTC1):c.*1663G>A rs552635622 0.00015
NM_025099.6(CTC1):c.1760A>G (p.Asn587Ser) rs376302717 0.00015
NM_025099.6(CTC1):c.*1042T>C rs974655494 0.00014
NM_025099.6(CTC1):c.3151C>T (p.Arg1051Trp) rs370674203 0.00014
NM_025099.6(CTC1):c.3246C>T (p.Ala1082=) rs201124470 0.00014
NM_025099.6(CTC1):c.*64T>G rs886053609 0.00013
NM_025099.6(CTC1):c.3083C>T (p.Ser1028Phe) rs779906449 0.00013
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln) rs201592575 0.00013
NM_025099.6(CTC1):c.*1630G>A rs77202978 0.00012
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414 0.00011
NM_025099.6(CTC1):c.3600T>C (p.Ser1200=) rs761178911 0.00011
NM_025099.6(CTC1):c.680C>T (p.Ala227Val) rs199473673 0.00011
NM_025099.6(CTC1):c.*1201T>C rs886053603 0.00010
NM_025099.6(CTC1):c.*1475A>G rs745973862 0.00010
NM_025099.6(CTC1):c.*1861A>G rs868663416 0.00010
NM_025099.6(CTC1):c.3317C>A (p.Ser1106Tyr) rs367822614 0.00010
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg) rs200137992 0.00010
NM_025099.6(CTC1):c.*2106G>T rs192934640 0.00009
NM_025099.6(CTC1):c.*2353A>G rs559152657 0.00009
NM_025099.6(CTC1):c.1748G>A (p.Ser583Asn) rs568980956 0.00009
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700 0.00009
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys) rs201879837 0.00009
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys) rs201885165 0.00009
NM_025099.6(CTC1):c.50A>G (p.Glu17Gly) rs200054513 0.00009
NM_025099.6(CTC1):c.*474G>A rs139392724 0.00008
NM_025099.6(CTC1):c.1379G>A (p.Arg460His) rs200619397 0.00008
NM_025099.6(CTC1):c.1946-6C>T rs369285521 0.00008
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648 0.00008
NM_025099.6(CTC1):c.2896C>T (p.Arg966Trp) rs200208356 0.00008
NM_025099.6(CTC1):c.3515-17C>T rs376402639 0.00008
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln) rs778830884 0.00008
NM_025099.6(CTC1):c.484C>T (p.Arg162Cys) rs367666200 0.00008
NM_025099.6(CTC1):c.616C>G (p.Pro206Ala) rs778922727 0.00008
NM_025099.6(CTC1):c.878G>C (p.Gly293Ala) rs377324497 0.00008
NM_025099.6(CTC1):c.*1711A>G rs563822041 0.00007
NM_025099.6(CTC1):c.*2842G>A rs1035127593 0.00007
NM_025099.6(CTC1):c.1052G>A (p.Arg351Gln) rs371166242 0.00007
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr) rs139078502 0.00007
NM_025099.6(CTC1):c.2476-7C>T rs189539795 0.00007
NM_025099.6(CTC1):c.2611G>A (p.Val871Met) rs369255297 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_025099.6(CTC1):c.3087C>T (p.Cys1029=) rs775991134 0.00007
NM_025099.6(CTC1):c.3191C>T (p.Thr1064Met) rs1001797761 0.00007
NM_025099.6(CTC1):c.1002C>T (p.Leu334=) rs369276308 0.00006
NM_025099.6(CTC1):c.1264G>A (p.Ala422Thr) rs369078832 0.00006
NM_025099.6(CTC1):c.1274T>C (p.Leu425Pro) rs371812914 0.00006
NM_025099.6(CTC1):c.1366C>T (p.Leu456=) rs529158574 0.00006
NM_025099.6(CTC1):c.1378C>T (p.Arg460Cys) rs561676622 0.00006
NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys) rs759152295 0.00006
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp) rs200222583 0.00006
NM_025099.6(CTC1):c.2472C>T (p.Pro824=) rs558802130 0.00006
NM_025099.6(CTC1):c.2510G>C (p.Cys837Ser) rs377390001 0.00006
NM_025099.6(CTC1):c.2575A>T (p.Thr859Ser) rs780809830 0.00006
NM_025099.6(CTC1):c.257C>T (p.Ser86Leu) rs778742090 0.00006
NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly) rs202226502 0.00006
NM_025099.6(CTC1):c.3337G>A (p.Val1113Met) rs543241073 0.00006
NM_025099.6(CTC1):c.596C>T (p.Thr199Met) rs747323535 0.00006
NM_025099.6(CTC1):c.843T>C (p.Tyr281=) rs367935180 0.00006
NM_025099.6(CTC1):c.884G>A (p.Arg295His) rs763386935 0.00006
NM_025099.6(CTC1):c.*2146G>A rs773269538 0.00005
NM_025099.6(CTC1):c.*2296T>A rs777042904 0.00005
NM_025099.6(CTC1):c.*3079C>T rs890664978 0.00005
NM_025099.6(CTC1):c.1051C>T (p.Arg351Trp) rs374781255 0.00005
NM_025099.6(CTC1):c.1076C>T (p.Ser359Leu) rs561782597 0.00005
NM_025099.6(CTC1):c.1565G>A (p.Arg522Gln) rs375999182 0.00005
NM_025099.6(CTC1):c.1904T>G (p.Leu635Arg) rs763326051 0.00005
NM_025099.6(CTC1):c.198-3C>T rs761189766 0.00005
NM_025099.6(CTC1):c.1981G>A (p.Val661Ile) rs534923467 0.00005
NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr) rs369721966 0.00005
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550 0.00005
NM_025099.6(CTC1):c.3281C>T (p.Ala1094Val) rs536983035 0.00005
NM_025099.6(CTC1):c.3286G>A (p.Ala1096Thr) rs748072446 0.00005
NM_025099.6(CTC1):c.3426C>T (p.Leu1142=) rs745512137 0.00005
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219 0.00005
NM_025099.6(CTC1):c.562G>A (p.Val188Met) rs769331687 0.00005
NM_025099.6(CTC1):c.648-9C>T rs779778738 0.00005
NM_025099.6(CTC1):c.827G>A (p.Arg276Gln) rs761903168 0.00005
NM_025099.6(CTC1):c.873C>G (p.Ile291Met) rs199900567 0.00005
NM_025099.6(CTC1):c.887A>G (p.Gln296Arg) rs746829533 0.00005
NM_025099.6(CTC1):c.*1964G>A rs1167690919 0.00004
NM_025099.6(CTC1):c.*2007A>G rs886053591 0.00004
NM_025099.6(CTC1):c.*218T>G rs886053607 0.00004
NM_025099.6(CTC1):c.*327C>T rs569217905 0.00004
NM_025099.6(CTC1):c.1028A>G (p.Lys343Arg) rs746477108 0.00004
NM_025099.6(CTC1):c.1043G>A (p.Ser348Asn) rs372396041 0.00004
NM_025099.6(CTC1):c.1107C>T (p.Pro369=) rs576049782 0.00004
NM_025099.6(CTC1):c.1293T>C (p.Leu431=) rs764709117 0.00004
NM_025099.6(CTC1):c.1359C>T (p.Tyr453=) rs371189165 0.00004
NM_025099.6(CTC1):c.139A>G (p.Lys47Glu) rs544760936 0.00004
NM_025099.6(CTC1):c.1542A>G (p.Leu514=) rs369802087 0.00004
NM_025099.6(CTC1):c.1682G>A (p.Arg561His) rs373690929 0.00004
NM_025099.6(CTC1):c.1683dup (p.Lys562Ter) rs1053748363 0.00004
NM_025099.6(CTC1):c.1727C>T (p.Pro576Leu) rs755218326 0.00004
NM_025099.6(CTC1):c.1936C>T (p.Arg646Trp) rs780151711 0.00004
NM_025099.6(CTC1):c.197+13G>A rs377444887 0.00004
NM_025099.6(CTC1):c.1990G>A (p.Asp664Asn) rs747911941 0.00004
NM_025099.6(CTC1):c.202G>A (p.Val68Ile) rs1060499949 0.00004
NM_025099.6(CTC1):c.2061-6C>T rs370503002 0.00004
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala) rs370354906 0.00004
NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser) rs771475755 0.00004
NM_025099.6(CTC1):c.258G>A (p.Ser86=) rs369789111 0.00004
NM_025099.6(CTC1):c.2653G>A (p.Asp885Asn) rs370102181 0.00004
NM_025099.6(CTC1):c.2783G>T (p.Cys928Phe) rs373660155 0.00004
NM_025099.6(CTC1):c.3176G>T (p.Gly1059Val) rs957741030 0.00004
NM_025099.6(CTC1):c.3222-4A>G rs562479062 0.00004
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile) rs377491661 0.00004
NM_025099.6(CTC1):c.3514+18G>A rs770137845 0.00004
NM_025099.6(CTC1):c.547G>T (p.Asp183Tyr) rs751596403 0.00004
NM_025099.6(CTC1):c.630C>G (p.Ser210=) rs750601480 0.00004
NM_025099.6(CTC1):c.*1286A>G rs886053601 0.00003
NM_025099.6(CTC1):c.*1438C>G rs141383858 0.00003
NM_025099.6(CTC1):c.*1852G>A rs559541027 0.00003
NM_025099.6(CTC1):c.*445A>T rs977398110 0.00003
NM_025099.6(CTC1):c.1045C>T (p.Leu349Phe) rs745499039 0.00003
NM_025099.6(CTC1):c.1078-14C>T rs778409864 0.00003
NM_025099.6(CTC1):c.1108G>A (p.Ala370Thr) rs771759195 0.00003
NM_025099.6(CTC1):c.1177C>T (p.Arg393Trp) rs767962215 0.00003
NM_025099.6(CTC1):c.1178G>A (p.Arg393Gln) rs755414520 0.00003
NM_025099.6(CTC1):c.1240G>T (p.Gly414Trp) rs375293707 0.00003
NM_025099.6(CTC1):c.1265C>T (p.Ala422Val) rs532962550 0.00003
NM_025099.6(CTC1):c.1276C>T (p.Arg426Cys) rs367898339 0.00003
NM_025099.6(CTC1):c.1284C>T (p.Ala428=) rs751503167 0.00003
NM_025099.6(CTC1):c.1344C>T (p.Tyr448=) rs758414171 0.00003
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile) rs201560353 0.00003
NM_025099.6(CTC1):c.2012C>G (p.Ser671Cys) rs764799661 0.00003
NM_025099.6(CTC1):c.2036G>A (p.Gly679Asp) rs201006130 0.00003
NM_025099.6(CTC1):c.2049G>A (p.Lys683=) rs1224287906 0.00003
NM_025099.6(CTC1):c.2060+8C>T rs774720707 0.00003
NM_025099.6(CTC1):c.2191C>T (p.Arg731Trp) rs781720954 0.00003
NM_025099.6(CTC1):c.2244C>T (p.Val748=) rs758516017 0.00003
NM_025099.6(CTC1):c.2266G>A (p.Val756Met) rs200779057 0.00003
NM_025099.6(CTC1):c.2352C>T (p.Pro784=) rs372436060 0.00003
NM_025099.6(CTC1):c.2370C>T (p.Asp790=) rs765241138 0.00003
NM_025099.6(CTC1):c.2385+19G>A rs766195246 0.00003
NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln) rs772328631 0.00003
NM_025099.6(CTC1):c.2497G>C (p.Asp833His) rs754510180 0.00003
NM_025099.6(CTC1):c.2670-7C>T rs750034989 0.00003
NM_025099.6(CTC1):c.268A>G (p.Ser90Gly) rs371308970 0.00003
NM_025099.6(CTC1):c.2721A>C (p.Leu907=) rs776568637 0.00003
NM_025099.6(CTC1):c.2770G>A (p.Ala924Thr) rs376358881 0.00003
NM_025099.6(CTC1):c.2799C>A (p.Val933=) rs756487472 0.00003
NM_025099.6(CTC1):c.2942A>G (p.Asn981Ser) rs375371933 0.00003
NM_025099.6(CTC1):c.2960G>A (p.Arg987Gln) rs769617113 0.00003
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947 0.00003
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=) rs760547081 0.00003
NM_025099.6(CTC1):c.647+16A>G rs761287304 0.00003
NM_025099.6(CTC1):c.*2685C>T rs886053588 0.00002
NM_025099.6(CTC1):c.*642A>G rs1282456436 0.00002
NM_025099.6(CTC1):c.1007T>C (p.Met336Thr) rs376721027 0.00002
NM_025099.6(CTC1):c.1147C>T (p.Leu383Phe) rs199532891 0.00002
NM_025099.6(CTC1):c.1166G>A (p.Arg389His) rs758605320 0.00002
NM_025099.6(CTC1):c.1343A>G (p.Tyr448Cys) rs779866795 0.00002
NM_025099.6(CTC1):c.1360del (p.Glu454fs) rs748852501 0.00002
NM_025099.6(CTC1):c.1398C>G (p.Leu466=) rs777305874 0.00002
NM_025099.6(CTC1):c.1525C>T (p.Pro509Ser) rs369917627 0.00002
NM_025099.6(CTC1):c.1558C>G (p.Pro520Ala) rs371714831 0.00002
NM_025099.6(CTC1):c.1624C>T (p.Arg542Trp) rs901245332 0.00002
NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln) rs776684484 0.00002
NM_025099.6(CTC1):c.1945+8G>A rs746083383 0.00002
NM_025099.6(CTC1):c.196A>G (p.Ser66Gly) rs1366348022 0.00002
NM_025099.6(CTC1):c.198-10C>T rs764516700 0.00002
NM_025099.6(CTC1):c.2353G>A (p.Glu785Lys) rs201561504 0.00002
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn) rs754090012 0.00002
NM_025099.6(CTC1):c.2441G>A (p.Gly814Glu) rs375914513 0.00002
NM_025099.6(CTC1):c.2476-6G>A rs768967446 0.00002
NM_025099.6(CTC1):c.2557A>G (p.Thr853Ala) rs758218109 0.00002
NM_025099.6(CTC1):c.2683T>C (p.Leu895=) rs764648488 0.00002
NM_025099.6(CTC1):c.2758+1G>T rs200609323 0.00002
NM_025099.6(CTC1):c.2785G>A (p.Val929Met) rs778339506 0.00002
NM_025099.6(CTC1):c.3007A>G (p.Ile1003Val) rs758498343 0.00002
NM_025099.6(CTC1):c.3169C>T (p.Arg1057Cys) rs376349076 0.00002
NM_025099.6(CTC1):c.3170G>A (p.Arg1057His) rs776956576 0.00002
NM_025099.6(CTC1):c.3173T>G (p.Leu1058Arg) rs146536910 0.00002
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser) rs373875495 0.00002
NM_025099.6(CTC1):c.3222G>C (p.Arg1074Ser) rs1393187047 0.00002
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu) rs766537691 0.00002
NM_025099.6(CTC1):c.3495G>A (p.Pro1165=) rs556097361 0.00002
NM_025099.6(CTC1):c.3515-9C>T rs1225599531 0.00002
NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter) rs200919310 0.00002
NM_025099.6(CTC1):c.363G>A (p.Ser121=) rs770555372 0.00002
NM_025099.6(CTC1):c.390C>T (p.Asn130=) rs559790131 0.00002
NM_025099.6(CTC1):c.448G>A (p.Asp150Asn) rs374418436 0.00002
NM_025099.6(CTC1):c.500C>T (p.Pro167Leu) rs1390966539 0.00002
NM_025099.6(CTC1):c.591C>T (p.Pro197=) rs538242855 0.00002
NM_025099.6(CTC1):c.647+4A>G rs751360780 0.00002
NM_025099.6(CTC1):c.738C>G (p.Ile246Met) rs1463129527 0.00002
NM_025099.6(CTC1):c.793-17G>A rs751885616 0.00002
NM_025099.6(CTC1):c.874C>T (p.Arg292Cys) rs1013688033 0.00002
NM_025099.6(CTC1):c.980T>C (p.Leu327Ser) rs902038280 0.00002
NM_025099.6(CTC1):c.*1061C>T rs1240025210 0.00001
NM_025099.6(CTC1):c.*1204T>C rs886053602 0.00001
NM_025099.6(CTC1):c.*1578T>A rs535373058 0.00001
NM_025099.6(CTC1):c.*1994A>G rs897034375 0.00001
NM_025099.6(CTC1):c.*2337G>A rs1311396995 0.00001
NM_025099.6(CTC1):c.*286G>A rs886053606 0.00001
NM_025099.6(CTC1):c.*305G>A rs1161700028 0.00001
NM_025099.6(CTC1):c.*384G>A rs912438390 0.00001
NM_025099.6(CTC1):c.*509C>T rs758527781 0.00001
NM_025099.6(CTC1):c.*759A>G rs1986820804 0.00001
NM_025099.6(CTC1):c.100C>T (p.Pro34Ser) rs374857685 0.00001
NM_025099.6(CTC1):c.1032G>A (p.Lys344=) rs376394434 0.00001
NM_025099.6(CTC1):c.1047T>C (p.Leu349=) rs1161961298 0.00001
NM_025099.6(CTC1):c.105T>C (p.Asn35=) rs775601506 0.00001
NM_025099.6(CTC1):c.1068A>G (p.Leu356=) rs756221416 0.00001
NM_025099.6(CTC1):c.1077+6C>T rs199696637 0.00001
NM_025099.6(CTC1):c.1078-13G>A rs200325111 0.00001
NM_025099.6(CTC1):c.1092C>T (p.Gly364=) rs761668228 0.00001
NM_025099.6(CTC1):c.1094T>C (p.Val365Ala) rs763967881 0.00001
NM_025099.6(CTC1):c.1117T>C (p.Tyr373His) rs1200884099 0.00001
NM_025099.6(CTC1):c.1155C>T (p.Tyr385=) rs1170351542 0.00001
NM_025099.6(CTC1):c.1165C>T (p.Arg389Cys) rs780333162 0.00001
NM_025099.6(CTC1):c.1184T>C (p.Met395Thr) rs1417486388 0.00001
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter) rs764019241 0.00001
NM_025099.6(CTC1):c.1187G>A (p.Arg396Gln) rs1478316787 0.00001
NM_025099.6(CTC1):c.1199G>A (p.Cys400Tyr) rs1483913680 0.00001
NM_025099.6(CTC1):c.1206+7G>C rs949969553 0.00001
NM_025099.6(CTC1):c.1207-7C>A rs746123381 0.00001
NM_025099.6(CTC1):c.1219C>A (p.His407Asn) rs1286168861 0.00001
NM_025099.6(CTC1):c.1242G>A (p.Gly414=) rs778096377 0.00001
NM_025099.6(CTC1):c.1277G>A (p.Arg426His) rs1215600600 0.00001
NM_025099.6(CTC1):c.1279G>A (p.Gly427Ser) rs749511585 0.00001
NM_025099.6(CTC1):c.1282G>A (p.Ala428Thr) rs1382263305 0.00001
NM_025099.6(CTC1):c.1285G>A (p.Val429Ile) rs191350236 0.00001
NM_025099.6(CTC1):c.1297A>G (p.Ser433Gly) rs1391872586 0.00001
NM_025099.6(CTC1):c.1306C>T (p.Arg436Cys) rs764414504 0.00001
NM_025099.6(CTC1):c.1350C>T (p.Ala450=) rs763760200 0.00001
NM_025099.6(CTC1):c.1360G>A (p.Glu454Lys) rs774972007 0.00001
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly) rs747887601 0.00001
NM_025099.6(CTC1):c.1467C>T (p.His489=) rs755429023 0.00001
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183 0.00001
NM_025099.6(CTC1):c.150G>A (p.Trp50Ter) rs202213253 0.00001
NM_025099.6(CTC1):c.1515A>G (p.Gln505=) rs759341353 0.00001
NM_025099.6(CTC1):c.1528A>G (p.Thr510Ala) rs578120516 0.00001
NM_025099.6(CTC1):c.1547C>T (p.Pro516Leu) rs747574053 0.00001
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475 0.00001
NM_025099.6(CTC1):c.1613A>G (p.Gln538Arg) rs1371252082 0.00001
NM_025099.6(CTC1):c.1617+8G>A rs200232133 0.00001
NM_025099.6(CTC1):c.1618-14T>C rs767597943 0.00001
NM_025099.6(CTC1):c.1620C>T (p.Tyr540=) rs765073204 0.00001
NM_025099.6(CTC1):c.1635T>C (p.Thr545=) rs768300804 0.00001
NM_025099.6(CTC1):c.1646T>C (p.Phe549Ser) rs1019443155 0.00001
NM_025099.6(CTC1):c.1650C>T (p.Pro550=) rs368449753 0.00001
NM_025099.6(CTC1):c.1673A>G (p.Glu558Gly) rs371121503 0.00001
NM_025099.6(CTC1):c.1697C>G (p.Ser566Cys) rs1351692819 0.00001
NM_025099.6(CTC1):c.1710G>A (p.Lys570=) rs376757390 0.00001
NM_025099.6(CTC1):c.1743G>A (p.Leu581=) rs1256128659 0.00001
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter) rs952398755 0.00001
NM_025099.6(CTC1):c.1756C>G (p.Leu586Val) rs760274760 0.00001
NM_025099.6(CTC1):c.1759A>C (p.Asn587His) rs774920348 0.00001
NM_025099.6(CTC1):c.1794G>A (p.Leu598=) rs1171819624 0.00001
NM_025099.6(CTC1):c.1801G>A (p.Ala601Thr) rs963962577 0.00001
NM_025099.6(CTC1):c.1818+1G>A rs773716148 0.00001
NM_025099.6(CTC1):c.1819-14T>G rs753627056 0.00001
NM_025099.6(CTC1):c.183G>A (p.Leu61=) rs1273538880 0.00001
NM_025099.6(CTC1):c.1870C>T (p.Arg624Trp) rs759039504 0.00001
NM_025099.6(CTC1):c.1871G>A (p.Arg624Gln) rs377423237 0.00001
NM_025099.6(CTC1):c.1899G>C (p.Leu633=) rs983492190 0.00001
NM_025099.6(CTC1):c.1909A>G (p.Lys637Glu) rs773628396 0.00001
NM_025099.6(CTC1):c.1937G>A (p.Arg646Gln) rs1243670945 0.00001
NM_025099.6(CTC1):c.1974G>T (p.Gln658His) rs779228652 0.00001
NM_025099.6(CTC1):c.1980C>T (p.Ile660=) rs929139383 0.00001
NM_025099.6(CTC1):c.1993G>A (p.Val665Met) rs751450242 0.00001
NM_025099.6(CTC1):c.2008C>T (p.Pro670Ser) rs750104621 0.00001
NM_025099.6(CTC1):c.204C>T (p.Val68=) rs767705861 0.00001
NM_025099.6(CTC1):c.2061-7C>T rs766368157 0.00001
NM_025099.6(CTC1):c.2089G>A (p.Ala697Thr) rs778524852 0.00001
NM_025099.6(CTC1):c.2121T>G (p.Leu707=) rs899017902 0.00001
NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr) rs1567604032 0.00001
NM_025099.6(CTC1):c.2141C>T (p.Thr714Ile) rs547897675 0.00001
NM_025099.6(CTC1):c.221A>G (p.Lys74Arg) rs774606496 0.00001
NM_025099.6(CTC1):c.2230C>T (p.Arg744Cys) rs752134243 0.00001
NM_025099.6(CTC1):c.2249C>A (p.Pro750Gln) rs1417430299 0.00001
NM_025099.6(CTC1):c.2250A>G (p.Pro750=) rs200036724 0.00001
NM_025099.6(CTC1):c.2277C>T (p.Pro759=) rs1264286773 0.00001
NM_025099.6(CTC1):c.2291A>G (p.Tyr764Cys) rs376729433 0.00001
NM_025099.6(CTC1):c.2312G>A (p.Gly771Glu) rs1287605629 0.00001
NM_025099.6(CTC1):c.2329G>C (p.Glu777Gln) rs753665719 0.00001
NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp) rs1427706121 0.00001
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256 0.00001
NM_025099.6(CTC1):c.2356C>A (p.Pro786Thr) rs1026203083 0.00001
NM_025099.6(CTC1):c.2376T>C (p.Asn792=) rs1206581935 0.00001
NM_025099.6(CTC1):c.2385+18G>A rs1449666905 0.00001
NM_025099.6(CTC1):c.2385+2T>C rs1597378045 0.00001
NM_025099.6(CTC1):c.2386-10A>G rs746382653 0.00001
NM_025099.6(CTC1):c.2386-1G>A rs199861310 0.00001
NM_025099.6(CTC1):c.2416C>T (p.Arg806Cys) rs758151645 0.00001
NM_025099.6(CTC1):c.2417G>A (p.Arg806His) rs750387015 0.00001
NM_025099.6(CTC1):c.2421G>T (p.Trp807Cys) rs765221206 0.00001
NM_025099.6(CTC1):c.2437C>T (p.Pro813Ser) rs776324067 0.00001
NM_025099.6(CTC1):c.2438C>T (p.Pro813Leu) rs764138772 0.00001
NM_025099.6(CTC1):c.2439G>A (p.Pro813=) rs200759730 0.00001
NM_025099.6(CTC1):c.2452C>T (p.Arg818Ter) rs760884555 0.00001
NM_025099.6(CTC1):c.2476-15C>G rs748214993 0.00001
NM_025099.6(CTC1):c.2476-20G>A rs374177499 0.00001
NM_025099.6(CTC1):c.2477C>A (p.Thr826Lys) rs757061571 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 0.00001
NM_025099.6(CTC1):c.2564A>G (p.Gln855Arg) rs1226186528 0.00001
NM_025099.6(CTC1):c.2576C>T (p.Thr859Ile) rs754425018 0.00001
NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter) rs1987206904 0.00001
NM_025099.6(CTC1):c.2652C>T (p.Thr884=) rs764276520 0.00001
NM_025099.6(CTC1):c.2686G>T (p.Val896Leu) rs761241839 0.00001
NM_025099.6(CTC1):c.2697C>T (p.Ser899=) rs551850837 0.00001
NM_025099.6(CTC1):c.2698G>A (p.Ala900Thr) rs371670247 0.00001
NM_025099.6(CTC1):c.2712A>G (p.Ser904=) rs1597376076 0.00001
NM_025099.6(CTC1):c.2729C>A (p.Pro910His) rs532454635 0.00001
NM_025099.6(CTC1):c.2730C>T (p.Pro910=) rs1302556489 0.00001
NM_025099.6(CTC1):c.2739G>A (p.Ala913=) rs745541560 0.00001
NM_025099.6(CTC1):c.2759-10C>A rs766460177 0.00001
NM_025099.6(CTC1):c.2759-18C>T rs751836178 0.00001
NM_025099.6(CTC1):c.275A>G (p.Tyr92Cys) rs753289258 0.00001
NM_025099.6(CTC1):c.2765C>T (p.Thr922Met) rs760623153 0.00001
NM_025099.6(CTC1):c.2766G>A (p.Thr922=) rs775342727 0.00001
NM_025099.6(CTC1):c.277C>T (p.Gln93Ter) rs767991627 0.00001
NM_025099.6(CTC1):c.286G>T (p.Ala96Ser) rs751570124 0.00001
NM_025099.6(CTC1):c.2897G>A (p.Arg966Gln) rs759485791 0.00001
NM_025099.6(CTC1):c.2934-16C>T rs759449159 0.00001
NM_025099.6(CTC1):c.2972A>G (p.Tyr991Cys) rs1471047572 0.00001
NM_025099.6(CTC1):c.2993C>T (p.Pro998Leu) rs368344044 0.00001
NM_025099.6(CTC1):c.2996C>A (p.Pro999His) rs780572571 0.00001
NM_025099.6(CTC1):c.2996C>T (p.Pro999Leu) rs780572571 0.00001
NM_025099.6(CTC1):c.3003C>T (p.Thr1001=) rs1228344704 0.00001
NM_025099.6(CTC1):c.306T>C (p.Asn102=) rs1469406841 0.00001
NM_025099.6(CTC1):c.3113A>G (p.Gln1038Arg) rs1486092046 0.00001
NM_025099.6(CTC1):c.3156+13A>C rs554186531 0.00001
NM_025099.6(CTC1):c.3156+18C>T rs1987003651 0.00001
NM_025099.6(CTC1):c.3157-3C>T rs1010558106 0.00001
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385 0.00001
NM_025099.6(CTC1):c.3221G>A (p.Arg1074Lys) rs751960515 0.00001
NM_025099.6(CTC1):c.3269A>G (p.Asn1090Ser) rs368562418 0.00001
NM_025099.6(CTC1):c.3273C>A (p.His1091Gln) rs564631876 0.00001
NM_025099.6(CTC1):c.3293G>A (p.Gly1098Glu) rs1986954991 0.00001
NM_025099.6(CTC1):c.3305G>A (p.Arg1102Lys) rs372789589 0.00001
NM_025099.6(CTC1):c.3323T>C (p.Leu1108Pro) rs1445322884 0.00001
NM_025099.6(CTC1):c.3330C>T (p.Phe1110=) rs779335414 0.00001
NM_025099.6(CTC1):c.3369G>T (p.Gly1123=) rs759771248 0.00001
NM_025099.6(CTC1):c.3400G>T (p.Val1134Phe) rs1446511863 0.00001
NM_025099.6(CTC1):c.3403G>A (p.Asp1135Asn) rs755212243 0.00001
NM_025099.6(CTC1):c.3406G>A (p.Glu1136Lys) rs761553012 0.00001
NM_025099.6(CTC1):c.3420G>A (p.Met1140Ile) rs554183453 0.00001
NM_025099.6(CTC1):c.3458G>A (p.Arg1153His) rs748674791 0.00001
NM_025099.6(CTC1):c.3514+14C>T rs551437595 0.00001
NM_025099.6(CTC1):c.3514+3A>G rs759039342 0.00001
NM_025099.6(CTC1):c.3523C>T (p.Arg1175Trp) rs747504166 0.00001
NM_025099.6(CTC1):c.3538C>T (p.Gln1180Ter) rs562356966 0.00001
NM_025099.6(CTC1):c.3564T>C (p.Thr1188=) rs750119408 0.00001
NM_025099.6(CTC1):c.3620C>T (p.Ser1207Phe) rs892408695 0.00001
NM_025099.6(CTC1):c.367G>T (p.Asp123Tyr) rs777260624 0.00001
NM_025099.6(CTC1):c.37C>G (p.Gln13Glu) rs767073205 0.00001
NM_025099.6(CTC1):c.421G>A (p.Val141Ile) rs532695142 0.00001
NM_025099.6(CTC1):c.435+12G>A rs1246653256 0.00001
NM_025099.6(CTC1):c.440del (p.Ile147fs) rs1196342305 0.00001
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu) rs542910040 0.00001
NM_025099.6(CTC1):c.485G>A (p.Arg162His) rs199966003 0.00001
NM_025099.6(CTC1):c.505G>A (p.Ala169Thr) rs757366100 0.00001
NM_025099.6(CTC1):c.534C>T (p.His178=) rs1251648065 0.00001
NM_025099.6(CTC1):c.553C>G (p.Pro185Ala) rs766180217 0.00001
NM_025099.6(CTC1):c.592G>A (p.Val198Ile) rs989763856 0.00001
NM_025099.6(CTC1):c.595A>C (p.Thr199Pro) rs1221916551 0.00001
NM_025099.6(CTC1):c.598C>T (p.Pro200Ser) rs772395506 0.00001
NM_025099.6(CTC1):c.599C>T (p.Pro200Leu) rs1456198284 0.00001
NM_025099.6(CTC1):c.647+12C>G rs750369449 0.00001
NM_025099.6(CTC1):c.670C>T (p.Arg224Ter) rs1169567839 0.00001
NM_025099.6(CTC1):c.740T>C (p.Leu247Pro) rs774742711 0.00001
NM_025099.6(CTC1):c.744T>G (p.Ser248=) rs1219363352 0.00001
NM_025099.6(CTC1):c.770C>T (p.Thr257Ile) rs1007776903 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025099.6(CTC1):c.780C>T (p.Ser260=) rs769988270 0.00001
NM_025099.6(CTC1):c.786C>T (p.Ile262=) rs781453163 0.00001
NM_025099.6(CTC1):c.793-13C>G rs957555496 0.00001
NM_025099.6(CTC1):c.79C>G (p.Leu27Val) rs369069450 0.00001
NM_025099.6(CTC1):c.817A>G (p.Arg273Gly) rs370483878 0.00001
NM_025099.6(CTC1):c.855A>C (p.Glu285Asp) rs1987719230 0.00001
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter) rs397514660 0.00001
NM_025099.6(CTC1):c.883C>T (p.Arg295Cys) rs373549661 0.00001
NM_025099.6(CTC1):c.888G>T (p.Gln296His) rs199553763 0.00001
NM_025099.6(CTC1):c.917G>A (p.Arg306His) rs567779457 0.00001
NM_025099.6(CTC1):c.918T>C (p.Arg306=) rs770766250 0.00001
NM_025099.6(CTC1):c.949G>C (p.Glu317Gln) rs1480736168 0.00001
NM_025099.6(CTC1):c.992C>G (p.Pro331Arg) rs765673141 0.00001
NM_025099.6(CTC1):c.995A>G (p.Lys332Arg) rs937598790 0.00001
NM_025099.6(CTC1):c.99G>A (p.Glu33=) rs201091226 0.00001
NC_000017.10:g.(?_8129271)_(8134741_?)del
NC_000017.10:g.(?_8131498)_(8151354_?)del
NC_000017.10:g.(?_8146283)_(8146486_?)del
NC_000017.10:g.(?_8146283)_(8151354_?)del
NM_025099.6(CTC1):c.*1052T>G rs201297846
NM_025099.6(CTC1):c.*1053T>C rs1158073985
NM_025099.6(CTC1):c.*1102C>T rs3027249
NM_025099.6(CTC1):c.*1103C>A rs75272219
NM_025099.6(CTC1):c.*1105G>A rs141632364
NM_025099.6(CTC1):c.*1107A>G rs573286497
NM_025099.6(CTC1):c.*1191T>A rs540304901
NM_025099.6(CTC1):c.*1191T>C rs540304901
NM_025099.6(CTC1):c.*1200T>C rs80097010
NM_025099.6(CTC1):c.*1308T>A rs574820085
NM_025099.6(CTC1):c.*1420A>T rs533674362
NM_025099.6(CTC1):c.*1473C>G rs377086928
NM_025099.6(CTC1):c.*1474G>A rs78517666
NM_025099.6(CTC1):c.*1474G>C rs78517666
NM_025099.6(CTC1):c.*1477G>A rs112336268
NM_025099.6(CTC1):c.*1477G>C rs112336268
NM_025099.6(CTC1):c.*1477G>T rs112336268
NM_025099.6(CTC1):c.*1478C>A rs146427367
NM_025099.6(CTC1):c.*1479C>T rs796651282
NM_025099.6(CTC1):c.*1600T>A rs751150794
NM_025099.6(CTC1):c.*1603T>A rs763671822
NM_025099.6(CTC1):c.*1792G>A rs886053595
NM_025099.6(CTC1):c.*1807G>C rs3027251
NM_025099.6(CTC1):c.*1844G>C rs3027252
NM_025099.6(CTC1):c.*1856C>T rs145845338
NM_025099.6(CTC1):c.*1857C>T rs886053594
NM_025099.6(CTC1):c.*1867G>A rs961793089
NM_025099.6(CTC1):c.*1868C>A rs535981109
NM_025099.6(CTC1):c.*1960C>G rs11650309
NM_025099.6(CTC1):c.*2013G>A rs886053590
NM_025099.6(CTC1):c.*2070G>A rs772156574
NM_025099.6(CTC1):c.*2090G>A rs1033226989
NM_025099.6(CTC1):c.*2242G>A rs868833357
NM_025099.6(CTC1):c.*2425T>C rs1986579685
NM_025099.6(CTC1):c.*2498G>A rs952734766
NM_025099.6(CTC1):c.*2536C>T rs1656306673
NM_025099.6(CTC1):c.*2725T>A rs1986555540
NM_025099.6(CTC1):c.*274C>T rs533383004
NM_025099.6(CTC1):c.*275G>A rs3027246
NM_025099.6(CTC1):c.*2784G>A rs886053587
NM_025099.6(CTC1):c.*2926G>C rs934312840
NM_025099.6(CTC1):c.*3198G>T rs568877108
NM_025099.6(CTC1):c.*3255G>C rs8072663
NM_025099.6(CTC1):c.*429C>T rs1286225682
NM_025099.6(CTC1):c.*65C>A rs886053608
NM_025099.6(CTC1):c.*663G>A rs183099496
NM_025099.6(CTC1):c.*808G>A rs1986816320
NM_025099.6(CTC1):c.1003C>T (p.Pro335Ser)
NM_025099.6(CTC1):c.1009C>G (p.Pro337Ala) rs2151523075
NM_025099.6(CTC1):c.1011C>T (p.Pro337=)
NM_025099.6(CTC1):c.1019C>G (p.Ser340Trp) rs771874794
NM_025099.6(CTC1):c.1019C>T (p.Ser340Leu)
NM_025099.6(CTC1):c.1026C>G (p.Asp342Glu) rs776408496
NM_025099.6(CTC1):c.1026C>T (p.Asp342=)
NM_025099.6(CTC1):c.1036C>G (p.Pro346Ala) rs2151522938
NM_025099.6(CTC1):c.1036C>T (p.Pro346Ser) rs2151522938
NM_025099.6(CTC1):c.1042del (p.Ser348fs) rs1290803035
NM_025099.6(CTC1):c.1046T>G (p.Leu349Arg) rs2151522868
NM_025099.6(CTC1):c.1054T>C (p.Tyr352His)
NM_025099.6(CTC1):c.1059T>C (p.Ser353=)
NM_025099.6(CTC1):c.1064T>C (p.Leu355Pro)
NM_025099.6(CTC1):c.1066C>T (p.Leu356=) rs1244119231
NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs) rs773120259
NM_025099.6(CTC1):c.1077+19C>T
NM_025099.6(CTC1):c.1077+1G>A
NM_025099.6(CTC1):c.1077G>A (p.Ser359=) rs767741611
NM_025099.6(CTC1):c.1077G>T (p.Ser359=)
NM_025099.6(CTC1):c.1078-16C>G
NM_025099.6(CTC1):c.1078-18A>G
NM_025099.6(CTC1):c.1078-4G>A rs375114652
NM_025099.6(CTC1):c.1078-4G>T rs375114652
NM_025099.6(CTC1):c.1078-4_1078-3delinsTT rs2151522382
NM_025099.6(CTC1):c.1078-8G>A
NM_025099.6(CTC1):c.1084G>C (p.Val362Leu)
NM_025099.6(CTC1):c.1085T>A (p.Val362Asp)
NM_025099.6(CTC1):c.108C>T (p.Val36=) rs2151546050
NM_025099.6(CTC1):c.1093G>A (p.Val365Met) rs753519460
NM_025099.6(CTC1):c.1108G>C (p.Ala370Pro)
NM_025099.6(CTC1):c.1111G>A (p.Gly371Ser)
NM_025099.6(CTC1):c.1115T>C (p.Leu372Pro)
NM_025099.6(CTC1):c.1118A>G (p.Tyr373Cys) rs2151522187
NM_025099.6(CTC1):c.1120G>A (p.Glu374Lys) rs1987674659
NM_025099.6(CTC1):c.1120G>T (p.Glu374Ter) rs1987674659
NM_025099.6(CTC1):c.1133A>G (p.Gln378Arg) rs1987673814
NM_025099.6(CTC1):c.1135C>T (p.Leu379=) rs1597385203
NM_025099.6(CTC1):c.1147del (p.Ala384fs)
NM_025099.6(CTC1):c.1151C>G (p.Ala384Gly) rs748695989
NM_025099.6(CTC1):c.1151C>T (p.Ala384Val)
NM_025099.6(CTC1):c.1156C>T (p.Gln386Ter) rs1203574273
NM_025099.6(CTC1):c.1161G>A (p.Gln387=)
NM_025099.6(CTC1):c.1171C>T (p.Leu391Phe)
NM_025099.6(CTC1):c.1173T>C (p.Leu391=)
NM_025099.6(CTC1):c.1185_1186delinsAG (p.Met395_Arg396delinsIleGly) rs1987666643
NM_025099.6(CTC1):c.1190dup (p.Gly398fs)
NM_025099.6(CTC1):c.1195G>A (p.Val399Met) rs1197080779
NM_025099.6(CTC1):c.1196T>C (p.Val399Ala)
NM_025099.6(CTC1):c.1197G>A (p.Val399=)
NM_025099.6(CTC1):c.1198T>C (p.Cys400Arg)
NM_025099.6(CTC1):c.119C>T (p.Pro40Leu)
NM_025099.6(CTC1):c.1206+13A>G
NM_025099.6(CTC1):c.1206+15G>A
NM_025099.6(CTC1):c.1206+16G>A
NM_025099.6(CTC1):c.1206+19G>A
NM_025099.6(CTC1):c.1206+5G>A
NM_025099.6(CTC1):c.1207-1G>C
NM_025099.6(CTC1):c.1207C>G (p.Leu403Val)
NM_025099.6(CTC1):c.1211A>G (p.Gln404Arg)
NM_025099.6(CTC1):c.1212G>C (p.Gln404His)
NM_025099.6(CTC1):c.1213del (p.Asp405fs) rs1444923772
NM_025099.6(CTC1):c.122del (p.Leu41fs)
NM_025099.6(CTC1):c.1231T>A (p.Ser411Thr) rs765850921
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu) rs62624978
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala) rs62624978
NM_025099.6(CTC1):c.1242G>C (p.Gly414=)
NM_025099.6(CTC1):c.1245G>C (p.Gly415=) rs1987612163
NM_025099.6(CTC1):c.1261C>G (p.Leu421Val)
NM_025099.6(CTC1):c.1263C>T (p.Leu421=) rs536218211
NM_025099.6(CTC1):c.1270T>G (p.Cys424Gly)
NM_025099.6(CTC1):c.1280G>T (p.Gly427Val) rs781203515
NM_025099.6(CTC1):c.1281C>A (p.Gly427=) rs754774538
NM_025099.6(CTC1):c.1283C>T (p.Ala428Val) rs2151520028
NM_025099.6(CTC1):c.1284_1285delinsTT (p.Val429Phe) rs2151520002
NM_025099.6(CTC1):c.128T>C (p.Ile43Thr)
NM_025099.6(CTC1):c.1300T>A (p.Phe434Ile)
NM_025099.6(CTC1):c.1300T>C (p.Phe434Leu) rs761520320
NM_025099.6(CTC1):c.1316C>T (p.Pro439Leu) rs2151519873
NM_025099.6(CTC1):c.1320G>T (p.Gly440=) rs2151519856
NM_025099.6(CTC1):c.1325A>T (p.His442Leu)
NM_025099.6(CTC1):c.1328C>T (p.Ser443Leu)
NM_025099.6(CTC1):c.1331C>T (p.Ser444Phe) rs1987600358
NM_025099.6(CTC1):c.1332C>A (p.Ser444=)
NM_025099.6(CTC1):c.1332C>G (p.Ser444=) rs1987600121
NM_025099.6(CTC1):c.1332C>T (p.Ser444=)
NM_025099.6(CTC1):c.1334G>A (p.Arg445His) rs768361173
NM_025099.6(CTC1):c.1339G>A (p.Ala447Thr) rs1223603855
NM_025099.6(CTC1):c.1348G>A (p.Ala450Thr) rs778433916
NM_025099.6(CTC1):c.1353C>G (p.Ser451=)
NM_025099.6(CTC1):c.1354C>T (p.Leu452=) rs1987595222
NM_025099.6(CTC1):c.1371G>T (p.Val457=) rs2151519516
NM_025099.6(CTC1):c.1375G>C (p.Glu459Gln)
NM_025099.6(CTC1):c.1383G>T (p.Gln461His) rs145192682
NM_025099.6(CTC1):c.1397T>A (p.Leu466His)
NM_025099.6(CTC1):c.1400A>G (p.Tyr467Cys) rs1987589226
NM_025099.6(CTC1):c.1404G>A (p.Leu468=) rs1987588693
NM_025099.6(CTC1):c.1410T>C (p.Ala470=)
NM_025099.6(CTC1):c.1439+17C>T rs1467120986
NM_025099.6(CTC1):c.1439+7A>G rs1987585756
NM_025099.6(CTC1):c.1439+7_1439+9del rs1391648072
NM_025099.6(CTC1):c.1439+8G>A
NM_025099.6(CTC1):c.1439+9G>C
NM_025099.6(CTC1):c.1439A>G (p.Lys480Arg)
NM_025099.6(CTC1):c.1440-19G>A
NM_025099.6(CTC1):c.1440-20_1440-19del rs1332067370
NM_025099.6(CTC1):c.1440-5C>T rs1987573771
NM_025099.6(CTC1):c.1440G>T (p.Lys480Asn) rs770798986
NM_025099.6(CTC1):c.1461A>G (p.Arg487=)
NM_025099.6(CTC1):c.1466A>C (p.His489Pro)
NM_025099.6(CTC1):c.146_149del (p.Val49fs)
NM_025099.6(CTC1):c.147C>G (p.Val49=)
NM_025099.6(CTC1):c.1480C>T (p.His494Tyr)
NM_025099.6(CTC1):c.1481A>G (p.His494Arg)
NM_025099.6(CTC1):c.1490C>T (p.Pro497Leu)
NM_025099.6(CTC1):c.1494G>A (p.Gly498=) rs750860792
NM_025099.6(CTC1):c.1496G>A (p.Ser499Asn)
NM_025099.6(CTC1):c.1498C>G (p.Pro500Ala) rs1359625369
NM_025099.6(CTC1):c.149_150delinsTT (p.Trp50Phe)
NM_025099.6(CTC1):c.1504C>T (p.Leu502=)
NM_025099.6(CTC1):c.1509A>G (p.Gly503=) rs2151518608
NM_025099.6(CTC1):c.1539T>C (p.Leu513=) rs2151518499
NM_025099.6(CTC1):c.1548G>T (p.Pro516=)
NM_025099.6(CTC1):c.1554C>T (p.Gly518=)
NM_025099.6(CTC1):c.1557C>T (p.Ser519=)
NM_025099.6(CTC1):c.1564C>A (p.Arg522=) rs199698527
NM_025099.6(CTC1):c.1564C>G (p.Arg522Gly) rs199698527
NM_025099.6(CTC1):c.1566G>C (p.Arg522=)
NM_025099.6(CTC1):c.1576A>G (p.Asn526Asp) rs2151518271
NM_025099.6(CTC1):c.1583del (p.Ile528fs)
NM_025099.6(CTC1):c.1585C>T (p.Leu529Phe) rs201560353
NM_025099.6(CTC1):c.1588G>A (p.Glu530Lys)
NM_025099.6(CTC1):c.1593G>A (p.Glu531=) rs1407136775
NM_025099.6(CTC1):c.1597C>G (p.His533Asp) rs1302748336
NM_025099.6(CTC1):c.1597C>T (p.His533Tyr)
NM_025099.6(CTC1):c.1602C>A (p.His534Gln) rs1421770599
NM_025099.6(CTC1):c.1611C>T (p.Leu537=)
NM_025099.6(CTC1):c.1617+13G>A
NM_025099.6(CTC1):c.1617+13G>C
NM_025099.6(CTC1):c.1617+13G>T
NM_025099.6(CTC1):c.1617+1G>T rs1201400384
NM_025099.6(CTC1):c.1617+5G>A
NM_025099.6(CTC1):c.1617+5G>T
NM_025099.6(CTC1):c.1617+7G>C
NM_025099.6(CTC1):c.1617A>G (p.Lys539=)
NM_025099.6(CTC1):c.1618-16C>T
NM_025099.6(CTC1):c.1618-8C>T rs2151517816
NM_025099.6(CTC1):c.1618-9C>T rs2151517821
NM_025099.6(CTC1):c.1623_1624del (p.Arg542fs)
NM_025099.6(CTC1):c.1625G>C (p.Arg542Pro)
NM_025099.6(CTC1):c.1626G>A (p.Arg542=)
NM_025099.6(CTC1):c.1632G>T (p.Gln544His)
NM_025099.6(CTC1):c.1638C>T (p.Pro546=) rs2151517678
NM_025099.6(CTC1):c.1644C>G (p.Ser548=)
NM_025099.6(CTC1):c.164G>A (p.Arg55Lys) rs2151545851
NM_025099.6(CTC1):c.165G>A (p.Arg55=) rs2151545845
NM_025099.6(CTC1):c.1667AAG[2] (p.Glu558del) rs756079894
NM_025099.6(CTC1):c.1668_1671del (p.Glu557fs) rs1237260493
NM_025099.6(CTC1):c.1669G>A (p.Glu557Lys) rs1987533999
NM_025099.6(CTC1):c.166A>C (p.Asn56His)
NM_025099.6(CTC1):c.1679A>G (p.Gln560Arg)
NM_025099.6(CTC1):c.1681C>A (p.Arg561Ser) rs202212634
NM_025099.6(CTC1):c.1682G>C (p.Arg561Pro) rs373690929
NM_025099.6(CTC1):c.1683T>G (p.Arg561=) rs1285328109
NM_025099.6(CTC1):c.1688C>T (p.Ala563Val)
NM_025099.6(CTC1):c.1693G>A (p.Ala565Thr) rs2151517418
NM_025099.6(CTC1):c.1697C>T (p.Ser566Phe)
NM_025099.6(CTC1):c.1700T>C (p.Phe567Ser) rs2151517400
NM_025099.6(CTC1):c.1704C>T (p.Asp568=)
NM_025099.6(CTC1):c.1706C>T (p.Pro569Leu)
NM_025099.6(CTC1):c.170A>G (p.Gln57Arg) rs371868360
NM_025099.6(CTC1):c.1719G>C (p.Leu573=) rs1282827614
NM_025099.6(CTC1):c.1721C>T (p.Pro574Leu) rs926565387
NM_025099.6(CTC1):c.1725C>G (p.Leu575=)
NM_025099.6(CTC1):c.1728G>T (p.Pro576=) rs78320653
NM_025099.6(CTC1):c.1730A>G (p.Glu577Gly)
NM_025099.6(CTC1):c.1733C>T (p.Ala578Val)
NM_025099.6(CTC1):c.173G>A (p.Gly58Asp) rs1988400898
NM_025099.6(CTC1):c.1746del (p.Ser583fs)
NM_025099.6(CTC1):c.1764C>T (p.Arg588=)
NM_025099.6(CTC1):c.1766G>A (p.Arg589His) rs771224545
NM_025099.6(CTC1):c.1766G>T (p.Arg589Leu)
NM_025099.6(CTC1):c.1774_1784dup (p.Cys596fs)
NM_025099.6(CTC1):c.1778C>T (p.Ser593Phe) rs767152748
NM_025099.6(CTC1):c.1782G>T (p.Trp594Cys) rs2151517027
NM_025099.6(CTC1):c.1785_1786del (p.Cys596fs)
NM_025099.6(CTC1):c.1787G>C (p.Cys596Ser)
NM_025099.6(CTC1):c.1788_1791del (p.Leu597fs)
NM_025099.6(CTC1):c.1789C>T (p.Leu597=)
NM_025099.6(CTC1):c.1797C>T (p.Pro599=) rs2151516939
NM_025099.6(CTC1):c.180A>G (p.Thr60=)
NM_025099.6(CTC1):c.1812A>G (p.Pro604=)
NM_025099.6(CTC1):c.1814_1818del (p.Ala605fs)
NM_025099.6(CTC1):c.1815C>T (p.Ala605=)
NM_025099.6(CTC1):c.1818+17C>T
NM_025099.6(CTC1):c.1818+4A>G
NM_025099.6(CTC1):c.1819-12A>T
NM_025099.6(CTC1):c.1819-17C>T
NM_025099.6(CTC1):c.1819-19A>C
NM_025099.6(CTC1):c.1819-21_1819-17del rs2151513134
NM_025099.6(CTC1):c.1819-4G>T
NM_025099.6(CTC1):c.1819-7_1819-5del
NM_025099.6(CTC1):c.181C>T (p.Leu61=) rs1439520622
NM_025099.6(CTC1):c.1825C>G (p.Leu609Val)
NM_025099.6(CTC1):c.1838T>C (p.Val613Ala)
NM_025099.6(CTC1):c.1845A>G (p.Ser615=)
NM_025099.6(CTC1):c.1850A>T (p.His617Leu)
NM_025099.6(CTC1):c.1856G>T (p.Gly619Val) rs1987375790
NM_025099.6(CTC1):c.1857T>C (p.Gly619=) rs2151512859
NM_025099.6(CTC1):c.1859G>A (p.Cys620Tyr) rs766985115
NM_025099.6(CTC1):c.1859G>T (p.Cys620Phe)
NM_025099.6(CTC1):c.1874A>G (p.Asp625Gly)
NM_025099.6(CTC1):c.1879A>G (p.Ser627Gly)
NM_025099.6(CTC1):c.1890G>A (p.Leu630=) rs765952322
NM_025099.6(CTC1):c.1890G>C (p.Leu630=)
NM_025099.6(CTC1):c.1914C>G (p.His638Gln)
NM_025099.6(CTC1):c.1918C>T (p.Gln640Ter) rs2151512520
NM_025099.6(CTC1):c.1919A>C (p.Gln640Pro) rs1987370776
NM_025099.6(CTC1):c.191G>A (p.Ser64Asn)
NM_025099.6(CTC1):c.1923C>T (p.Pro641=) rs1432613856
NM_025099.6(CTC1):c.1926C>T (p.Leu642=)
NM_025099.6(CTC1):c.1927A>G (p.Ser643Gly)
NM_025099.6(CTC1):c.1927A>T (p.Ser643Cys)
NM_025099.6(CTC1):c.1934dup (p.Arg646fs)
NM_025099.6(CTC1):c.1938G>A (p.Arg646=)
NM_025099.6(CTC1):c.1940T>A (p.Leu647Gln) rs1342587450
NM_025099.6(CTC1):c.1942A>C (p.Ile648Leu)
NM_025099.6(CTC1):c.1945+10del
NM_025099.6(CTC1):c.1945+19G>A rs2151512377
NM_025099.6(CTC1):c.1946-11T>C rs372245030
NM_025099.6(CTC1):c.1946-11T>G
NM_025099.6(CTC1):c.1946-13T>C
NM_025099.6(CTC1):c.1946-17A>G
NM_025099.6(CTC1):c.1946-4C>T
NM_025099.6(CTC1):c.1954G>A (p.Val652Met)
NM_025099.6(CTC1):c.1954G>C (p.Val652Leu)
NM_025099.6(CTC1):c.1956G>A (p.Val652=) rs2151511215
NM_025099.6(CTC1):c.1960G>A (p.Ala654Thr)
NM_025099.6(CTC1):c.197+18T>C
NM_025099.6(CTC1):c.197+8G>A
NM_025099.6(CTC1):c.198-12T>G rs2151532365
NM_025099.6(CTC1):c.198-15C>G
NM_025099.6(CTC1):c.198-17T>C
NM_025099.6(CTC1):c.198-20C>G
NM_025099.6(CTC1):c.198-4A>G rs1597389646
NM_025099.6(CTC1):c.1984G>C (p.Glu662Gln) rs1341299177
NM_025099.6(CTC1):c.1989G>A (p.Arg663=)
NM_025099.6(CTC1):c.1992C>T (p.Asp664=) rs755004377
NM_025099.6(CTC1):c.1998A>C (p.Arg666Ser) rs757849997
NM_025099.6(CTC1):c.2013C>G (p.Ser671=)
NM_025099.6(CTC1):c.2019G>A (p.Lys673=) rs2151510979
NM_025099.6(CTC1):c.201C>T (p.Phe67=) rs552540195
NM_025099.6(CTC1):c.2027G>A (p.Ser676Asn)
NM_025099.6(CTC1):c.2029A>G (p.Met677Val) rs1987321255
NM_025099.6(CTC1):c.2037C>T (p.Gly679=) rs2151510889
NM_025099.6(CTC1):c.2038T>G (p.Phe680Val) rs2151510882
NM_025099.6(CTC1):c.2044C>G (p.Gln682Glu)
NM_025099.6(CTC1):c.2045A>G (p.Gln682Arg)
NM_025099.6(CTC1):c.2050C>G (p.Gln684Glu)
NM_025099.6(CTC1):c.2053C>T (p.Gln685Ter)
NM_025099.6(CTC1):c.2055G>C (p.Gln685His)
NM_025099.6(CTC1):c.2056G>A (p.Ala686Thr)
NM_025099.6(CTC1):c.2058C>A (p.Ala686=)
NM_025099.6(CTC1):c.2060+10T>G
NM_025099.6(CTC1):c.2060+12G>A rs1987317835
NM_025099.6(CTC1):c.2060+13G>C
NM_025099.6(CTC1):c.2060+18A>G
NM_025099.6(CTC1):c.2060+5G>A
NM_025099.6(CTC1):c.2060+6_2060+13del rs2151510765
NM_025099.6(CTC1):c.2060+9C>A rs2151510790
NM_025099.6(CTC1):c.2061-11T>C
NM_025099.6(CTC1):c.2061-12C>G
NM_025099.6(CTC1):c.2061-14G>T rs774632748
NM_025099.6(CTC1):c.2061-20T>G
NM_025099.6(CTC1):c.2061-5A>G
NM_025099.6(CTC1):c.2066A>G (p.Tyr689Cys)
NM_025099.6(CTC1):c.2071C>T (p.Gln691Ter)
NM_025099.6(CTC1):c.2076C>G (p.Phe692Leu) rs369717598
NM_025099.6(CTC1):c.2090C>A (p.Ala697Asp)
NM_025099.6(CTC1):c.2097C>T (p.Ile699=)
NM_025099.6(CTC1):c.2100G>C (p.Leu700=)
NM_025099.6(CTC1):c.210A>G (p.Val70=)
NM_025099.6(CTC1):c.2113C>G (p.Pro705Ala)
NM_025099.6(CTC1):c.2124T>G (p.His708Gln)
NM_025099.6(CTC1):c.2126C>G (p.Ser709Ter) rs1201426650
NM_025099.6(CTC1):c.2136C>T (p.Pro712=)
NM_025099.6(CTC1):c.2140A>C (p.Thr714Pro) rs1987295113
NM_025099.6(CTC1):c.2147A>G (p.Gln716Arg)
NM_025099.6(CTC1):c.2152G>C (p.Asp718His) rs1458344790
NM_025099.6(CTC1):c.2161G>A (p.Gly721Ser) rs771821232
NM_025099.6(CTC1):c.2164C>T (p.Pro722Ser) rs770505786
NM_025099.6(CTC1):c.2166A>G (p.Pro722=) rs2151509876
NM_025099.6(CTC1):c.2175C>T (p.Pro725=)
NM_025099.6(CTC1):c.2178C>T (p.His726=) rs201146538
NM_025099.6(CTC1):c.2202G>C (p.Leu734Phe)
NM_025099.6(CTC1):c.2210A>G (p.His737Arg) rs537646611
NM_025099.6(CTC1):c.222G>C (p.Lys74Asn)
NM_025099.6(CTC1):c.2235T>C (p.Asn745=) rs2151509581
NM_025099.6(CTC1):c.2242G>T (p.Val748Phe)
NM_025099.6(CTC1):c.2244C>G (p.Val748=) rs758516017
NM_025099.6(CTC1):c.2247C>G (p.Pro749=)
NM_025099.6(CTC1):c.2247C>T (p.Pro749=)
NM_025099.6(CTC1):c.2253A>G (p.Gly751=) rs1164794062
NM_025099.6(CTC1):c.2258G>A (p.Ser753Asn) rs1987279014
NM_025099.6(CTC1):c.225T>C (p.Thr75=) rs761598220
NM_025099.6(CTC1):c.2268G>T (p.Val756=)
NM_025099.6(CTC1):c.226C>A (p.His76Asn)
NM_025099.6(CTC1):c.2276C>T (p.Pro759Leu) rs2151509364
NM_025099.6(CTC1):c.2280C>T (p.Ala760=)
NM_025099.6(CTC1):c.228C>A (p.His76Gln) rs531109382
NM_025099.6(CTC1):c.228C>T (p.His76=) rs531109382
NM_025099.6(CTC1):c.2291_2292del (p.Tyr764fs) rs2151509277
NM_025099.6(CTC1):c.2292T>C (p.Tyr764=)
NM_025099.6(CTC1):c.2294T>C (p.Val765Ala) rs2151509260
NM_025099.6(CTC1):c.2305T>C (p.Trp769Arg)
NM_025099.6(CTC1):c.2310T>G (p.Leu770=)
NM_025099.6(CTC1):c.2322G>A (p.Gln774=)
NM_025099.6(CTC1):c.2322del (p.Arg775fs)
NM_025099.6(CTC1):c.2327A>G (p.Lys776Arg)
NM_025099.6(CTC1):c.2337T>C (p.Thr779=) rs1567603423
NM_025099.6(CTC1):c.2346G>T (p.Gly782=)
NM_025099.6(CTC1):c.2350C>T (p.Pro784Ser)
NM_025099.6(CTC1):c.2375A>G (p.Asn792Ser) rs1245008176
NM_025099.6(CTC1):c.2379T>A (p.Asp793Glu)
NM_025099.6(CTC1):c.237C>G (p.Leu79=) rs2151532137
NM_025099.6(CTC1):c.237C>T (p.Leu79=)
NM_025099.6(CTC1):c.2383A>G (p.Lys795Glu)
NM_025099.6(CTC1):c.2385+1G>C rs2151508864
NM_025099.6(CTC1):c.2386-16C>T
NM_025099.6(CTC1):c.2386-16del
NM_025099.6(CTC1):c.2386-18T>G
NM_025099.6(CTC1):c.2386-20T>A rs374816662
NM_025099.6(CTC1):c.2386-20T>C rs374816662
NM_025099.6(CTC1):c.2386-5C>T rs757334155
NM_025099.6(CTC1):c.2391C>T (p.His797=)
NM_025099.6(CTC1):c.2394C>G (p.Leu798=)
NM_025099.6(CTC1):c.2395A>G (p.Ile799Val) rs2151508501
NM_025099.6(CTC1):c.2399T>C (p.Phe800Ser) rs752957819
NM_025099.6(CTC1):c.2409T>C (p.Ser803=) rs1987252367
NM_025099.6(CTC1):c.2418C>T (p.Arg806=)
NM_025099.6(CTC1):c.2436C>G (p.His812Gln)
NM_025099.6(CTC1):c.244T>C (p.Cys82Arg) rs1987946472
NM_025099.6(CTC1):c.2451C>T (p.Tyr817=)
NM_025099.6(CTC1):c.2453G>T (p.Arg818Leu) rs772328631
NM_025099.6(CTC1):c.2459T>C (p.Ile820Thr)
NM_025099.6(CTC1):c.2466T>C (p.Pro822=) rs2151508201
NM_025099.6(CTC1):c.246C>T (p.Cys82=)
NM_025099.6(CTC1):c.2471C>G (p.Pro824Arg)
NM_025099.6(CTC1):c.2471C>T (p.Pro824Leu)
NM_025099.6(CTC1):c.2472C>G (p.Pro824=) rs558802130
NM_025099.6(CTC1):c.2472del (p.Ala825fs)
NM_025099.6(CTC1):c.2473G>A (p.Ala825Thr) rs915406565
NM_025099.6(CTC1):c.2473G>C (p.Ala825Pro)
NM_025099.6(CTC1):c.2475+10C>T
NM_025099.6(CTC1):c.2475+20A>G
NM_025099.6(CTC1):c.2475+3G>A rs1987244042
NM_025099.6(CTC1):c.2475+9C>A rs781404123
NM_025099.6(CTC1):c.2475+9C>G
NM_025099.6(CTC1):c.2475+9C>T rs781404123
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn) rs78870822
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.2492A>G (p.Glu831Gly)
NM_025099.6(CTC1):c.2497G>A (p.Asp833Asn) rs754510180
NM_025099.6(CTC1):c.2497G>T (p.Asp833Tyr)
NM_025099.6(CTC1):c.2505A>G (p.Ser835=)
NM_025099.6(CTC1):c.2507C>G (p.Ser836Cys) rs1987214622
NM_025099.6(CTC1):c.2508C>T (p.Ser836=)
NM_025099.6(CTC1):c.2510G>A (p.Cys837Tyr) rs377390001
NM_025099.6(CTC1):c.2512A>G (p.Ile838Val)
NM_025099.6(CTC1):c.2519G>A (p.Arg840Gln)
NM_025099.6(CTC1):c.2521C>T (p.Arg841Cys) rs747249710
NM_025099.6(CTC1):c.2524C>T (p.Pro842Ser) rs1354260622
NM_025099.6(CTC1):c.2525C>G (p.Pro842Arg)
NM_025099.6(CTC1):c.2527C>A (p.Leu843Met)
NM_025099.6(CTC1):c.2537C>T (p.Ala846Val)
NM_025099.6(CTC1):c.2538T>C (p.Ala846=)
NM_025099.6(CTC1):c.2546C>T (p.Ala849Val) rs1987209622
NM_025099.6(CTC1):c.2547A>G (p.Ala849=)
NM_025099.6(CTC1):c.2561_2573del (p.Val854fs) rs1987208048
NM_025099.6(CTC1):c.2570A>G (p.Asn857Ser)
NM_025099.6(CTC1):c.2583G>A (p.Glu861=)
NM_025099.6(CTC1):c.2586T>G (p.Leu862=) rs2151506876
NM_025099.6(CTC1):c.258G>C (p.Ser86=) rs369789111
NM_025099.6(CTC1):c.258G>T (p.Ser86=) rs369789111
NM_025099.6(CTC1):c.2594C>T (p.Ser865Phe)
NM_025099.6(CTC1):c.2602A>G (p.Ile868Val) rs1555532937
NM_025099.6(CTC1):c.2605C>T (p.Gln869Ter)
NM_025099.6(CTC1):c.2610T>C (p.Asp870=)
NM_025099.6(CTC1):c.2613G>A (p.Val871=)
NM_025099.6(CTC1):c.2619T>C (p.Asp873=) rs2151506753
NM_025099.6(CTC1):c.2627A>T (p.Lys876Met)
NM_025099.6(CTC1):c.2631A>G (p.Ser877=) rs1335870783
NM_025099.6(CTC1):c.2638G>A (p.Glu880Lys)
NM_025099.6(CTC1):c.263G>A (p.Ser88Asn) rs1987944023
NM_025099.6(CTC1):c.2651C>T (p.Thr884Ile)
NM_025099.6(CTC1):c.2653G>T (p.Asp885Tyr) rs370102181
NM_025099.6(CTC1):c.2661C>T (p.Leu887=)
NM_025099.6(CTC1):c.2668A>G (p.Asn890Asp)
NM_025099.6(CTC1):c.2669+13C>G
NM_025099.6(CTC1):c.2669+17C>A
NM_025099.6(CTC1):c.2669+18C>T rs769461004
NM_025099.6(CTC1):c.2670-12C>G rs1987142319
NM_025099.6(CTC1):c.2670-3C>G rs765650487
NM_025099.6(CTC1):c.2670-3C>T rs765650487
NM_025099.6(CTC1):c.2678A>G (p.Asp893Gly)
NM_025099.6(CTC1):c.2681C>A (p.Ser894Tyr) rs754401174
NM_025099.6(CTC1):c.2699C>T (p.Ala900Val) rs1408453833
NM_025099.6(CTC1):c.269G>A (p.Ser90Asn)
NM_025099.6(CTC1):c.2704A>G (p.Ile902Val) rs2151504713
NM_025099.6(CTC1):c.2714G>A (p.Arg905Gln)
NM_025099.6(CTC1):c.2718A>G (p.Thr906=)
NM_025099.6(CTC1):c.2719C>T (p.Leu907=)
NM_025099.6(CTC1):c.2721A>G (p.Leu907=) rs776568637
NM_025099.6(CTC1):c.2727A>C (p.Glu909Asp)
NM_025099.6(CTC1):c.2738C>T (p.Ala913Val) rs771428933
NM_025099.6(CTC1):c.273A>G (p.Ala91=)
NM_025099.6(CTC1):c.2742T>C (p.Ser914=) rs1248489024
NM_025099.6(CTC1):c.2743C>T (p.Leu915Phe) rs778391511
NM_025099.6(CTC1):c.2749A>G (p.Met917Val)
NM_025099.6(CTC1):c.2750T>G (p.Met917Arg) rs1987130951
NM_025099.6(CTC1):c.2758+11T>C
NM_025099.6(CTC1):c.2758+18G>A
NM_025099.6(CTC1):c.2758+4A>G rs754205135
NM_025099.6(CTC1):c.2758+7A>T rs2151504452
NM_025099.6(CTC1):c.2759-12T>C
NM_025099.6(CTC1):c.2759-20C>T
NM_025099.6(CTC1):c.2759-4A>G rs374727205
NM_025099.6(CTC1):c.2759-4A>T rs374727205
NM_025099.6(CTC1):c.2759-7T>G
NM_025099.6(CTC1):c.2763C>G (p.Asn921Lys)
NM_025099.6(CTC1):c.2770dup (p.Ala924fs)
NM_025099.6(CTC1):c.2775G>T (p.Met925Ile) rs2151504059
NM_025099.6(CTC1):c.2777G>A (p.Arg926Lys)
NM_025099.6(CTC1):c.2783G>A (p.Cys928Tyr) rs373660155
NM_025099.6(CTC1):c.278A>G (p.Gln93Arg)
NM_025099.6(CTC1):c.2799C>T (p.Val933=)
NM_025099.6(CTC1):c.2802T>C (p.Ala934=)
NM_025099.6(CTC1):c.2809A>T (p.Thr937Ser) rs1370736551
NM_025099.6(CTC1):c.2811T>G (p.Thr937=)
NM_025099.6(CTC1):c.2819G>A (p.Cys940Tyr)
NM_025099.6(CTC1):c.2826C>T (p.Phe942=)
NM_025099.6(CTC1):c.2830C>T (p.Pro944Ser) rs1299588337
NM_025099.6(CTC1):c.2831C>T (p.Pro944Leu) rs1987110819
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.2831dup (p.His945fs) rs199473677
NM_025099.6(CTC1):c.2835C>A (p.His945Gln)
NM_025099.6(CTC1):c.2836C>T (p.Leu946=)
NM_025099.6(CTC1):c.2847T>C (p.Tyr949=)
NM_025099.6(CTC1):c.2865G>T (p.Leu955Phe)
NM_025099.6(CTC1):c.2866C>T (p.Pro956Ser) rs1987108095
NM_025099.6(CTC1):c.2867C>T (p.Pro956Leu) rs1345126351
NM_025099.6(CTC1):c.286G>A (p.Ala96Thr) rs751570124
NM_025099.6(CTC1):c.2880A>G (p.Gly960=)
NM_025099.6(CTC1):c.2880dup (p.Leu961fs) rs2151503544
NM_025099.6(CTC1):c.2881C>G (p.Leu961Val) rs1567600596
NM_025099.6(CTC1):c.2882T>C (p.Leu961Pro)
NM_025099.6(CTC1):c.2888C>G (p.Pro963Arg)
NM_025099.6(CTC1):c.2888del (p.Pro963fs) rs1987105095
NM_025099.6(CTC1):c.288C>T (p.Ala96=)
NM_025099.6(CTC1):c.2893G>A (p.Ala965Thr) rs1987104593
NM_025099.6(CTC1):c.2894C>T (p.Ala965Val) rs1987104355
NM_025099.6(CTC1):c.2897G>C (p.Arg966Pro) rs759485791
NM_025099.6(CTC1):c.2898G>A (p.Arg966=)
NM_025099.6(CTC1):c.2908A>G (p.Ser970Gly)
NM_025099.6(CTC1):c.2910C>T (p.Ser970=)
NM_025099.6(CTC1):c.2914T>C (p.Leu972=)
NM_025099.6(CTC1):c.2917G>A (p.Glu973Lys)
NM_025099.6(CTC1):c.2926G>T (p.Val976Phe)
NM_025099.6(CTC1):c.2933+18C>T
NM_025099.6(CTC1):c.2933+3G>A rs878855127
NM_025099.6(CTC1):c.2933+8T>C rs1160513274
NM_025099.6(CTC1):c.2933+9G>A
NM_025099.6(CTC1):c.2934-13C>T
NM_025099.6(CTC1):c.2934-3C>G
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.295G>C (p.Ala99Pro) rs2151531876
NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter) rs62637613
NM_025099.6(CTC1):c.2978_2981dup (p.Leu995fs) rs2151502269
NM_025099.6(CTC1):c.3004A>G (p.Thr1002Ala) rs1987062062
NM_025099.6(CTC1):c.3011+10C>G
NM_025099.6(CTC1):c.3011+19A>G
NM_025099.6(CTC1):c.3011+19del
NM_025099.6(CTC1):c.3011+3C>T rs1316252024
NM_025099.6(CTC1):c.3012-12G>C
NM_025099.6(CTC1):c.3012-18C>T
NM_025099.6(CTC1):c.3012-20_3012-19del rs372844070
NM_025099.6(CTC1):c.3012-3T>C
NM_025099.6(CTC1):c.3012-5_3012-2del rs2151500920
NM_025099.6(CTC1):c.3012-7T>C
NM_025099.6(CTC1):c.3013A>T (p.Ile1005Phe)
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025099.6(CTC1):c.3023C>G (p.Pro1008Arg)
NM_025099.6(CTC1):c.3024C>G (p.Pro1008=) rs1987021468
NM_025099.6(CTC1):c.3024C>T (p.Pro1008=)
NM_025099.6(CTC1):c.3028A>C (p.Ile1010Leu)
NM_025099.6(CTC1):c.3031T>C (p.Tyr1011His)
NM_025099.6(CTC1):c.3033C>T (p.Tyr1011=)
NM_025099.6(CTC1):c.303A>G (p.Pro101=)
NM_025099.6(CTC1):c.303_316del (p.Asn102fs) rs2151531785
NM_025099.6(CTC1):c.3045T>A (p.Leu1015=)
NM_025099.6(CTC1):c.3047T>A (p.Leu1016Gln) rs2151500704
NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter) rs1567599296
NM_025099.6(CTC1):c.3052G>A (p.Gly1018Ser)
NM_025099.6(CTC1):c.3059A>C (p.Gln1020Pro) rs1987017237
NM_025099.6(CTC1):c.3066A>G (p.Pro1022=)
NM_025099.6(CTC1):c.3066A>T (p.Pro1022=)
NM_025099.6(CTC1):c.3081C>T (p.Ala1027=)
NM_025099.6(CTC1):c.3093C>A (p.Ile1031=)
NM_025099.6(CTC1):c.3093C>T (p.Ile1031=)
NM_025099.6(CTC1):c.3099dup (p.Val1034fs) rs1597374251
NM_025099.6(CTC1):c.3104del (p.Phe1035fs) rs1567599198
NM_025099.6(CTC1):c.3108C>T (p.Ser1036=)
NM_025099.6(CTC1):c.3110T>C (p.Leu1037Pro)
NM_025099.6(CTC1):c.3113A>C (p.Gln1038Pro) rs1486092046
NM_025099.6(CTC1):c.311A>C (p.Asn104Thr)
NM_025099.6(CTC1):c.312C>A (p.Asn104Lys) rs1987939410
NM_025099.6(CTC1):c.3131C>T (p.Ala1044Val) rs1987009040
NM_025099.6(CTC1):c.3136del (p.Cys1046fs) rs1223080335
NM_025099.6(CTC1):c.313C>T (p.Pro105Ser)
NM_025099.6(CTC1):c.3150C>T (p.Cys1050=) rs1310614752
NM_025099.6(CTC1):c.3152G>A (p.Arg1051Gln)
NM_025099.6(CTC1):c.3156+10G>A
NM_025099.6(CTC1):c.3156+6G>A rs1597374105
NM_025099.6(CTC1):c.3157-14T>C
NM_025099.6(CTC1):c.3157-15C>T
NM_025099.6(CTC1):c.3157-16A>C rs1986997815
NM_025099.6(CTC1):c.3157-19A>G
NM_025099.6(CTC1):c.3157-2A>C
NM_025099.6(CTC1):c.3157-7A>T rs2151500127
NM_025099.6(CTC1):c.315C>T (p.Pro105=)
NM_025099.6(CTC1):c.3174G>A (p.Leu1058=) rs1597373933
NM_025099.6(CTC1):c.3176G>A (p.Gly1059Asp) rs957741030
NM_025099.6(CTC1):c.3192G>A (p.Thr1064=)
NM_025099.6(CTC1):c.3195_3203dup (p.Ala1067_Ile1068insMetThrAla)
NM_025099.6(CTC1):c.3197C>G (p.Thr1066Arg) rs767106179
NM_025099.6(CTC1):c.320C>G (p.Pro107Arg) rs760362880
NM_025099.6(CTC1):c.320C>T (p.Pro107Leu) rs760362880
NM_025099.6(CTC1):c.3214A>G (p.Ile1072Val)
NM_025099.6(CTC1):c.3216C>T (p.Ile1072=) rs2151499882
NM_025099.6(CTC1):c.3221+14G>A
NM_025099.6(CTC1):c.3221+15C>T
NM_025099.6(CTC1):c.3221+19C>A rs2151499736
NM_025099.6(CTC1):c.3221+1G>A rs766644829
NM_025099.6(CTC1):c.3221+20A>G
NM_025099.6(CTC1):c.3221+2T>C
NM_025099.6(CTC1):c.3221+5G>C rs1986987980
NM_025099.6(CTC1):c.3222-10C>G
NM_025099.6(CTC1):c.3222-10C>T
NM_025099.6(CTC1):c.322C>T (p.Arg108Ter) rs372031509
NM_025099.6(CTC1):c.3231G>A (p.Val1077=) rs2151499073
NM_025099.6(CTC1):c.323G>A (p.Arg108Gln) rs368398609
NM_025099.6(CTC1):c.3251C>T (p.Ala1084Val) rs2151499036
NM_025099.6(CTC1):c.3253G>A (p.Val1085Met) rs1209523245
NM_025099.6(CTC1):c.3253G>C (p.Val1085Leu) rs1209523245
NM_025099.6(CTC1):c.3266G>A (p.Arg1089Lys)
NM_025099.6(CTC1):c.3271C>T (p.His1091Tyr) rs1358175667
NM_025099.6(CTC1):c.3272A>G (p.His1091Arg) rs1597373397
NM_025099.6(CTC1):c.3275A>G (p.His1092Arg) rs1986957283
NM_025099.6(CTC1):c.3276T>C (p.His1092=)
NM_025099.6(CTC1):c.3278T>C (p.Val1093Ala) rs2151498924
NM_025099.6(CTC1):c.3280G>A (p.Ala1094Thr) rs773036519
NM_025099.6(CTC1):c.3299G>C (p.Cys1100Ser) rs2151498826
NM_025099.6(CTC1):c.3301C>A (p.Pro1101Thr) rs1597373346
NM_025099.6(CTC1):c.3302C>T (p.Pro1101Leu)
NM_025099.6(CTC1):c.3303T>C (p.Pro1101=)
NM_025099.6(CTC1):c.330G>T (p.Gln110His)
NM_025099.6(CTC1):c.3324A>G (p.Leu1108=)
NM_025099.6(CTC1):c.3325G>C (p.Asp1109His)
NM_025099.6(CTC1):c.3331G>A (p.Val1111Ile)
NM_025099.6(CTC1):c.3331G>C (p.Val1111Leu) rs374284337
NM_025099.6(CTC1):c.3351G>A (p.Val1117=)
NM_025099.6(CTC1):c.3356_3358dup (p.Leu1119dup) rs1986946908
NM_025099.6(CTC1):c.3367G>A (p.Gly1123Arg)
NM_025099.6(CTC1):c.3371C>T (p.Pro1124Leu)
NM_025099.6(CTC1):c.3377C>T (p.Ala1126Val)
NM_025099.6(CTC1):c.3387+1G>A rs1242486415
NM_025099.6(CTC1):c.3387+1G>C
NM_025099.6(CTC1):c.3387+3G>A rs2151498493
NM_025099.6(CTC1):c.3387+9T>C rs2151498469
NM_025099.6(CTC1):c.3388-11_3388-9del rs1262324249
NM_025099.6(CTC1):c.3388-19C>T
NM_025099.6(CTC1):c.3388-20C>G
NM_025099.6(CTC1):c.3388-22_3388-17del rs780812864
NM_025099.6(CTC1):c.3388-5T>C
NM_025099.6(CTC1):c.3388-7T>C rs752759103
NM_025099.6(CTC1):c.3388-8C>T
NM_025099.6(CTC1):c.3394G>A (p.Ala1132Thr) rs1986931683
NM_025099.6(CTC1):c.34-13T>G
NM_025099.6(CTC1):c.34-6C>T
NM_025099.6(CTC1):c.3401T>C (p.Val1134Ala)
NM_025099.6(CTC1):c.3405C>T (p.Asp1135=)
NM_025099.6(CTC1):c.3409C>T (p.Pro1137Ser) rs2151498057
NM_025099.6(CTC1):c.3410C>G (p.Pro1137Arg)
NM_025099.6(CTC1):c.3413T>A (p.Met1138Lys) rs376216450
NM_025099.6(CTC1):c.341del (p.Leu113_Leu114insTer)
NM_025099.6(CTC1):c.3421T>C (p.Phe1141Leu) rs1302492698
NM_025099.6(CTC1):c.3425_3426delinsAT (p.Leu1142His) rs199473681
NM_025099.6(CTC1):c.3432A>C (p.Thr1144=) rs1285633618
NM_025099.6(CTC1):c.3434T>G (p.Leu1145Arg)
NM_025099.6(CTC1):c.3436T>C (p.Cys1146Arg)
NM_025099.6(CTC1):c.3437del (p.Cys1146fs)
NM_025099.6(CTC1):c.3440C>G (p.Thr1147Ser) rs771446414
NM_025099.6(CTC1):c.3441T>C (p.Thr1147=)
NM_025099.6(CTC1):c.3447C>T (p.Pro1149=)
NM_025099.6(CTC1):c.3454C>G (p.Leu1152Val)
NM_025099.6(CTC1):c.3456_3462del (p.Arg1153fs) rs1986920257
NM_025099.6(CTC1):c.3457C>T (p.Arg1153Cys)
NM_025099.6(CTC1):c.3458G>C (p.Arg1153Pro) rs748674791
NM_025099.6(CTC1):c.3468G>T (p.Val1156=) rs1213104518
NM_025099.6(CTC1):c.3472T>C (p.Ser1158Pro)
NM_025099.6(CTC1):c.3476T>C (p.Phe1159Ser)
NM_025099.6(CTC1):c.3490A>G (p.Lys1164Glu) rs1986917089
NM_025099.6(CTC1):c.3491A>C (p.Lys1164Thr)
NM_025099.6(CTC1):c.3492A>G (p.Lys1164=) rs952574848
NM_025099.6(CTC1):c.3496T>A (p.Ser1166Thr)
NM_025099.6(CTC1):c.3497C>T (p.Ser1166Leu)
NM_025099.6(CTC1):c.3498G>T (p.Ser1166=) rs369209127
NM_025099.6(CTC1):c.3506T>C (p.Val1169Ala)
NM_025099.6(CTC1):c.3510A>G (p.Pro1170=)
NM_025099.6(CTC1):c.3514+15G>A
NM_025099.6(CTC1):c.3514+16G>C
NM_025099.6(CTC1):c.3514+16G>T
NM_025099.6(CTC1):c.3514+4A>G
NM_025099.6(CTC1):c.3514+7T>C
NM_025099.6(CTC1):c.3514+8T>G
NM_025099.6(CTC1):c.3515-19T>C rs2151497033
NM_025099.6(CTC1):c.3515-3C>G
NM_025099.6(CTC1):c.3515-3C>T rs776835897
NM_025099.6(CTC1):c.3515-8C>T
NM_025099.6(CTC1):c.3515-8del rs2151496968
NM_025099.6(CTC1):c.3521C>T (p.Pro1174Leu)
NM_025099.6(CTC1):c.3529C>G (p.Gln1177Glu) rs1349506921
NM_025099.6(CTC1):c.3533G>A (p.Arg1178Gln) rs764813118
NM_025099.6(CTC1):c.3533G>C (p.Arg1178Pro) rs764813118
NM_025099.6(CTC1):c.3547G>A (p.Glu1183Lys)
NM_025099.6(CTC1):c.3549G>A (p.Glu1183=)
NM_025099.6(CTC1):c.3555T>G (p.Pro1185=) rs755022443
NM_025099.6(CTC1):c.3558C>T (p.Phe1186=)
NM_025099.6(CTC1):c.3567C>G (p.His1189Gln) rs374942931
NM_025099.6(CTC1):c.3576C>G (p.Pro1192=) rs2151496784
NM_025099.6(CTC1):c.3577A>G (p.Arg1193Gly) rs2151496778
NM_025099.6(CTC1):c.3583C>G (p.Arg1195Gly) rs199473682
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter) rs199473682
NM_025099.6(CTC1):c.3584G>A (p.Arg1195Gln) rs1206095374
NM_025099.6(CTC1):c.3585del (p.Leu1196fs)
NM_025099.6(CTC1):c.3586T>C (p.Leu1196=)
NM_025099.6(CTC1):c.3588G>A (p.Leu1196=)
NM_025099.6(CTC1):c.358C>T (p.Leu120=) rs2151531587
NM_025099.6(CTC1):c.3591C>T (p.Ser1197=) rs115990839
NM_025099.6(CTC1):c.3598T>A (p.Ser1200Thr)
NM_025099.6(CTC1):c.3599C>G (p.Ser1200Cys)
NM_025099.6(CTC1):c.3601A>C (p.Ile1201Leu)
NM_025099.6(CTC1):c.360A>G (p.Leu120=) rs201957649
NM_025099.6(CTC1):c.3612A>G (p.Ser1204=)
NM_025099.6(CTC1):c.3628C>G (p.Leu1210Val)
NM_025099.6(CTC1):c.3628C>T (p.Leu1210=)
NM_025099.6(CTC1):c.362C>T (p.Ser121Leu)
NM_025099.6(CTC1):c.3633G>A (p.Gly1211=)
NM_025099.6(CTC1):c.3638T>C (p.Leu1213Pro)
NM_025099.6(CTC1):c.3642T>C (p.Ala1214=) rs2151496599
NM_025099.6(CTC1):c.3645C>G (p.Ser1215=) rs2151496592
NM_025099.6(CTC1):c.3648C>G (p.Ser1216=) rs2151496576
NM_025099.6(CTC1):c.3649T>C (p.Cys1217Arg) rs1432386993
NM_025099.6(CTC1):c.36A>G (p.Glu12=)
NM_025099.6(CTC1):c.383G>T (p.Cys128Phe) rs1339616084
NM_025099.6(CTC1):c.385_394del (p.Arg129fs)
NM_025099.6(CTC1):c.398T>C (p.Leu133Pro)
NM_025099.6(CTC1):c.400T>C (p.Tyr134His)
NM_025099.6(CTC1):c.401A>G (p.Tyr134Cys) rs2151531350
NM_025099.6(CTC1):c.408A>G (p.Arg136=)
NM_025099.6(CTC1):c.409_410del (p.Arg136_Asp137insTer)
NM_025099.6(CTC1):c.40G>A (p.Ala14Thr)
NM_025099.6(CTC1):c.411T>G (p.Asp137Glu)
NM_025099.6(CTC1):c.412A>G (p.Asn138Asp)
NM_025099.6(CTC1):c.413A>G (p.Asn138Ser)
NM_025099.6(CTC1):c.416C>G (p.Thr139Ser) rs2151531295
NM_025099.6(CTC1):c.420C>T (p.Gly140=) rs1207136461
NM_025099.6(CTC1):c.429C>G (p.Ser143Arg)
NM_025099.6(CTC1):c.435+13T>A
NM_025099.6(CTC1):c.435+20C>A
NM_025099.6(CTC1):c.435+3G>T rs6503093
NM_025099.6(CTC1):c.435+9A>C
NM_025099.6(CTC1):c.435+9A>G
NM_025099.6(CTC1):c.436-10T>A
NM_025099.6(CTC1):c.436-17C>G
NM_025099.6(CTC1):c.436-1G>A
NM_025099.6(CTC1):c.438C>A (p.Leu146=) rs922605347
NM_025099.6(CTC1):c.438C>G (p.Leu146=)
NM_025099.6(CTC1):c.438C>T (p.Leu146=)
NM_025099.6(CTC1):c.439A>G (p.Ile147Val)
NM_025099.6(CTC1):c.440T>C (p.Ile147Thr)
NM_025099.6(CTC1):c.444C>T (p.Asp148=)
NM_025099.6(CTC1):c.447G>C (p.Leu149=)
NM_025099.6(CTC1):c.450C>G (p.Asp150Glu) rs2151530771
NM_025099.6(CTC1):c.455C>G (p.Ser152Cys) rs1987914806
NM_025099.6(CTC1):c.455C>T (p.Ser152Phe) rs1987914806
NM_025099.6(CTC1):c.456T>C (p.Ser152=)
NM_025099.6(CTC1):c.458G>A (p.Trp153Ter) rs2151530716
NM_025099.6(CTC1):c.463G>A (p.Gly155Ser)
NM_025099.6(CTC1):c.466C>G (p.His156Asp) rs1987914284
NM_025099.6(CTC1):c.467A>G (p.His156Arg)
NM_025099.6(CTC1):c.470T>C (p.Leu157Pro) rs747551190
NM_025099.6(CTC1):c.480C>G (p.Phe160Leu)
NM_025099.6(CTC1):c.480C>T (p.Phe160=)
NM_025099.6(CTC1):c.495C>A (p.Tyr165Ter)
NM_025099.6(CTC1):c.502C>T (p.Pro168Ser) rs1385087993
NM_025099.6(CTC1):c.503C>A (p.Pro168His) rs1567613854
NM_025099.6(CTC1):c.51G>A (p.Glu17=)
NM_025099.6(CTC1):c.52G>C (p.Asp18His) rs1988413224
NM_025099.6(CTC1):c.534C>G (p.His178Gln) rs1251648065
NM_025099.6(CTC1):c.53_55dup (p.Asp18_Ala19insAsp)
NM_025099.6(CTC1):c.547G>A (p.Asp183Asn) rs751596403
NM_025099.6(CTC1):c.54T>C (p.Asp18=)
NM_025099.6(CTC1):c.556G>A (p.Val186Met) rs185346402
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.574A>G (p.Thr192Ala)
NM_025099.6(CTC1):c.575C>G (p.Thr192Ser)
NM_025099.6(CTC1):c.583C>T (p.Pro195Ser) rs2151530350
NM_025099.6(CTC1):c.58C>T (p.Gln20Ter)
NM_025099.6(CTC1):c.591del (p.Val198fs) rs1567613669
NM_025099.6(CTC1):c.596C>G (p.Thr199Arg) rs747323535
NM_025099.6(CTC1):c.603C>T (p.Ile201=)
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
NM_025099.6(CTC1):c.622A>G (p.Ser208Gly)
NM_025099.6(CTC1):c.623G>A (p.Ser208Asn)
NM_025099.6(CTC1):c.633C>T (p.Cys211=)
NM_025099.6(CTC1):c.63C>G (p.Val21=)
NM_025099.6(CTC1):c.647+10C>A
NM_025099.6(CTC1):c.647+11C>T
NM_025099.6(CTC1):c.647+12del rs755954781
NM_025099.6(CTC1):c.647+18G>A rs373103137
NM_025099.6(CTC1):c.647+6T>C
NM_025099.6(CTC1):c.647+8C>T rs2151530046
NM_025099.6(CTC1):c.647G>A (p.Arg216Lys)
NM_025099.6(CTC1):c.648-8C>T rs2151527978
NM_025099.6(CTC1):c.650del (p.Asn217fs)
NM_025099.6(CTC1):c.656T>C (p.Leu219Pro) rs750372074
NM_025099.6(CTC1):c.662G>A (p.Gly221Asp) rs1987831900
NM_025099.6(CTC1):c.66C>T (p.Phe22=)
NM_025099.6(CTC1):c.671G>A (p.Arg224Gln)
NM_025099.6(CTC1):c.678G>A (p.Leu226=)
NM_025099.6(CTC1):c.67A>T (p.Ile23Phe)
NM_025099.6(CTC1):c.694C>T (p.Arg232Ter)
NM_025099.6(CTC1):c.697T>C (p.Leu233=) rs775207921
NM_025099.6(CTC1):c.702T>G (p.Ser234Arg)
NM_025099.6(CTC1):c.711G>A (p.Val237=) rs1196630450
NM_025099.6(CTC1):c.71A>G (p.Gln24Arg)
NM_025099.6(CTC1):c.723_724del (p.Lys242fs)
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025099.6(CTC1):c.736A>G (p.Ile246Val)
NM_025099.6(CTC1):c.737T>C (p.Ile246Thr) rs2151527713
NM_025099.6(CTC1):c.743C>T (p.Ser248Phe)
NM_025099.6(CTC1):c.745C>G (p.Leu249Val) rs1987824590
NM_025099.6(CTC1):c.745C>T (p.Leu249Phe) rs1987824590
NM_025099.6(CTC1):c.751A>G (p.Arg251Gly) rs1987824097
NM_025099.6(CTC1):c.754T>G (p.Ser252Ala)
NM_025099.6(CTC1):c.762A>G (p.Pro254=)
NM_025099.6(CTC1):c.768C>T (p.Val256=)
NM_025099.6(CTC1):c.771C>G (p.Thr257=)
NM_025099.6(CTC1):c.774C>T (p.His258=)
NM_025099.6(CTC1):c.787G>A (p.Val263Met)
NM_025099.6(CTC1):c.787G>C (p.Val263Leu) rs1010062693
NM_025099.6(CTC1):c.792+12G>A rs2151527447
NM_025099.6(CTC1):c.792+9T>A
NM_025099.6(CTC1):c.793-18T>G rs2151524334
NM_025099.6(CTC1):c.793-20C>T
NM_025099.6(CTC1):c.793-4C>A
NM_025099.6(CTC1):c.793-4C>G
NM_025099.6(CTC1):c.793-8C>A rs2151524293
NM_025099.6(CTC1):c.799G>A (p.Ala267Thr) rs1315598261
NM_025099.6(CTC1):c.802C>T (p.Gln268Ter)
NM_025099.6(CTC1):c.805C>T (p.Leu269=) rs898388984
NM_025099.6(CTC1):c.808G>T (p.Val270Leu)
NM_025099.6(CTC1):c.810G>A (p.Val270=)
NM_025099.6(CTC1):c.811T>C (p.Trp271Arg) rs1313170347
NM_025099.6(CTC1):c.812G>A (p.Trp271Ter) rs2151524168
NM_025099.6(CTC1):c.813G>T (p.Trp271Cys)
NM_025099.6(CTC1):c.822C>T (p.Ala274=)
NM_025099.6(CTC1):c.826C>T (p.Arg276Trp) rs267605102
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_025099.6(CTC1):c.849G>C (p.Leu283=) rs2151523972
NM_025099.6(CTC1):c.853G>C (p.Glu285Gln) rs2151523962
NM_025099.6(CTC1):c.860G>A (p.Arg287Gln) rs1987718148
NM_025099.6(CTC1):c.874C>G (p.Arg292Gly) rs1013688033
NM_025099.6(CTC1):c.875G>A (p.Arg292His)
NM_025099.6(CTC1):c.879_897del (p.Gly293_Gln294insTer)
NM_025099.6(CTC1):c.880C>T (p.Gln294Ter) rs2151523798
NM_025099.6(CTC1):c.884_889del (p.Arg295_Gln296del) rs2151523720
NM_025099.6(CTC1):c.892G>T (p.Val298Phe) rs2151523686
NM_025099.6(CTC1):c.896G>A (p.Trp299Ter)
NM_025099.6(CTC1):c.903C>G (p.Thr301=)
NM_025099.6(CTC1):c.903C>T (p.Thr301=) rs1597385951
NM_025099.6(CTC1):c.917G>T (p.Arg306Leu) rs567779457
NM_025099.6(CTC1):c.926T>G (p.Leu309Arg) rs1555534628
NM_025099.6(CTC1):c.929T>C (p.Leu310Pro)
NM_025099.6(CTC1):c.934C>T (p.Pro312Ser)
NM_025099.6(CTC1):c.939A>G (p.Glu313=)
NM_025099.6(CTC1):c.946C>T (p.Gln316Ter)
NM_025099.6(CTC1):c.951_956del (p.318LE[2]) rs766700799
NM_025099.6(CTC1):c.955G>A (p.Glu319Lys)
NM_025099.6(CTC1):c.955G>C (p.Glu319Gln)
NM_025099.6(CTC1):c.958_969del (p.318LE[1]) rs763129063
NM_025099.6(CTC1):c.972A>G (p.Gly324=)
NM_025099.6(CTC1):c.973C>T (p.Pro325Ser)
NM_025099.6(CTC1):c.976C>G (p.Leu326Val)
NM_025099.6(CTC1):c.978C>T (p.Leu326=)
NM_025099.6(CTC1):c.979T>C (p.Leu327=) rs1987705280
NM_025099.6(CTC1):c.990C>A (p.Asp330Glu)
NM_025099.6(CTC1):c.990_991delinsTA (p.Pro331Thr) rs2151523180

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