ClinVar Miner

List of variants in gene TTLL5 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 912
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HGVS dbSNP gnomAD frequency
NM_015072.5(TTLL5):c.1709-7T>C rs2359870 0.99609
NM_015072.5(TTLL5):c.446C>T (p.Ala149Val) rs2303345 0.48575
NM_015072.5(TTLL5):c.3800T>C (p.Phe1267Ser) rs1133834 0.30514
NM_015072.5(TTLL5):c.3498G>A (p.Leu1166=) rs3742764 0.13480
NM_015072.5(TTLL5):c.2136+6G>C rs45480992 0.10133
NM_015072.5(TTLL5):c.2388-12T>C rs72725608 0.02584
NM_015072.5(TTLL5):c.75-3T>C rs117173802 0.01615
NM_015072.5(TTLL5):c.2232C>T (p.Arg744=) rs2288143 0.01345
NM_015072.5(TTLL5):c.2872A>G (p.Thr958Ala) rs148677697 0.01233
NM_015072.5(TTLL5):c.181+4C>T rs117639142 0.00939
NM_015072.5(TTLL5):c.1186+14T>G rs114107464 0.00898
NM_015072.5(TTLL5):c.2629G>A (p.Ala877Thr) rs112181538 0.00715
NM_015072.5(TTLL5):c.1773C>T (p.Val591=) rs61741261 0.00711
NM_015072.5(TTLL5):c.3544C>T (p.Leu1182=) rs143302131 0.00659
NM_015072.5(TTLL5):c.1395+11G>T rs79846725 0.00603
NM_015072.5(TTLL5):c.2637A>C (p.Leu879Phe) rs146036604 0.00396
NM_015072.5(TTLL5):c.1963C>T (p.Leu655=) rs142427449 0.00320
NM_015072.5(TTLL5):c.2891G>A (p.Arg964Gln) rs142169707 0.00269
NM_015072.5(TTLL5):c.1774G>A (p.Ala592Thr) rs11848004 0.00238
NM_015072.5(TTLL5):c.1326C>T (p.Leu442=) rs141322942 0.00219
NM_015072.5(TTLL5):c.354A>G (p.Lys118=) rs142072074 0.00185
NM_015072.5(TTLL5):c.2603-3T>C rs185326652 0.00175
NM_015072.5(TTLL5):c.576G>T (p.Leu192=) rs556212778 0.00164
NM_015072.5(TTLL5):c.670G>A (p.Val224Met) rs17849666 0.00105
NM_015072.5(TTLL5):c.1226G>A (p.Arg409Gln) rs142465256 0.00090
NM_015072.5(TTLL5):c.1709-9C>T rs373032875 0.00083
NM_015072.5(TTLL5):c.2137-12T>C rs186428372 0.00081
NM_015072.5(TTLL5):c.934+10G>A rs192536539 0.00079
NM_015072.5(TTLL5):c.1576T>C (p.Leu526=) rs2288142 0.00074
NM_015072.5(TTLL5):c.2965C>T (p.Arg989Cys) rs151205932 0.00066
NM_015072.5(TTLL5):c.1422G>A (p.Glu474=) rs145268057 0.00065
NM_015072.5(TTLL5):c.1897A>G (p.Asn633Asp) rs141429300 0.00060
NM_015072.5(TTLL5):c.740+6A>G rs185044527 0.00060
NM_015072.5(TTLL5):c.3803T>C (p.Val1268Ala) rs137888249 0.00058
NM_015072.5(TTLL5):c.933C>T (p.Thr311=) rs77742126 0.00057
NM_015072.5(TTLL5):c.490G>A (p.Ala164Thr) rs143151165 0.00053
NM_015072.5(TTLL5):c.141C>T (p.Asp47=) rs540867894 0.00048
NM_015072.5(TTLL5):c.3752C>T (p.Ala1251Val) rs138045400 0.00047
NM_015072.5(TTLL5):c.40T>C (p.Ser14Pro) rs201704357 0.00046
NM_015072.5(TTLL5):c.609G>C (p.Glu203Asp) rs17856074 0.00046
NM_015072.5(TTLL5):c.824A>G (p.Lys275Arg) rs145430209 0.00046
NM_015072.5(TTLL5):c.3461A>C (p.Gln1154Pro) rs573319891 0.00043
NM_015072.5(TTLL5):c.1969C>T (p.Pro657Ser) rs150120928 0.00039
NM_015072.5(TTLL5):c.3425C>T (p.Thr1142Ile) rs143882862 0.00039
NM_015072.5(TTLL5):c.3395G>A (p.Gly1132Glu) rs146051440 0.00036
NM_015072.5(TTLL5):c.2136+16C>G rs377039435 0.00033
NM_015072.5(TTLL5):c.2950A>T (p.Ser984Cys) rs141204322 0.00031
NM_015072.5(TTLL5):c.1186+9T>C rs1406748679 0.00028
NM_015072.5(TTLL5):c.3419A>G (p.His1140Arg) rs140038179 0.00028
NM_015072.5(TTLL5):c.2536G>A (p.Glu846Lys) rs147186140 0.00027
NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys) rs199882533 0.00024
NM_015072.5(TTLL5):c.181+18C>T rs546521756 0.00024
NM_015072.5(TTLL5):c.2262C>T (p.Asp754=) rs767367069 0.00022
NM_015072.5(TTLL5):c.521G>A (p.Arg174Gln) rs141614130 0.00022
NM_015072.5(TTLL5):c.1912C>T (p.Arg638Cys) rs61741463 0.00021
NM_015072.5(TTLL5):c.2930A>G (p.Gln977Arg) rs576592642 0.00021
NM_015072.5(TTLL5):c.1187-7C>G rs772006292 0.00020
NM_015072.5(TTLL5):c.1187-8C>T rs748140679 0.00020
NM_015072.5(TTLL5):c.3327-16T>C rs557646685 0.00019
NM_015072.5(TTLL5):c.501T>C (p.Cys167=) rs367911993 0.00019
NM_015072.5(TTLL5):c.2970C>G (p.Pro990=) rs140291071 0.00017
NM_015072.5(TTLL5):c.1255A>G (p.Arg419Gly) rs143853946 0.00016
NM_015072.5(TTLL5):c.1310C>T (p.Ala437Val) rs112023579 0.00016
NM_015072.5(TTLL5):c.274A>G (p.Ser92Gly) rs149084771 0.00016
NM_015072.5(TTLL5):c.3642A>T (p.Lys1214Asn) rs146149200 0.00016
NM_015072.5(TTLL5):c.624C>A (p.Ser208=) rs192932593 0.00016
NM_015072.5(TTLL5):c.1159A>G (p.Met387Val) rs201783571 0.00014
NM_015072.5(TTLL5):c.1903A>G (p.Met635Val) rs145086453 0.00014
NM_015072.5(TTLL5):c.1662T>G (p.Arg554=) rs1045127706 0.00013
NM_015072.5(TTLL5):c.2357A>T (p.Glu786Val) rs372279209 0.00013
NM_015072.5(TTLL5):c.564G>A (p.Arg188=) rs139084674 0.00013
NM_015072.5(TTLL5):c.1920G>A (p.Trp640Ter) rs367693933 0.00012
NM_015072.5(TTLL5):c.2052C>T (p.Leu684=) rs374872936 0.00012
NM_015072.5(TTLL5):c.2847C>T (p.Pro949=) rs375420838 0.00012
NM_015072.5(TTLL5):c.92T>C (p.Met31Thr) rs139124485 0.00012
NM_015072.5(TTLL5):c.1409G>A (p.Arg470Gln) rs368557430 0.00011
NM_015072.5(TTLL5):c.2150G>A (p.Arg717His) rs201405297 0.00011
NM_015072.5(TTLL5):c.2805A>G (p.Leu935=) rs146549418 0.00011
NM_015072.5(TTLL5):c.377A>C (p.Tyr126Ser) rs138271588 0.00011
NM_015072.5(TTLL5):c.568G>A (p.Val190Ile) rs374783896 0.00011
NM_015072.5(TTLL5):c.1059C>T (p.Asp353=) rs373070614 0.00010
NM_015072.5(TTLL5):c.1781A>G (p.Asp594Gly) rs148938066 0.00010
NM_015072.5(TTLL5):c.2387+11T>A rs747215169 0.00010
NM_015072.5(TTLL5):c.3264G>A (p.Pro1088=) rs376141983 0.00010
NM_015072.5(TTLL5):c.3666C>T (p.Cys1222=) rs141359185 0.00010
NM_015072.5(TTLL5):c.412A>G (p.Ile138Val) rs780232533 0.00010
NM_015072.5(TTLL5):c.492G>A (p.Ala164=) rs374875191 0.00010
NM_015072.5(TTLL5):c.1513A>G (p.Met505Val) rs781316021 0.00009
NM_015072.5(TTLL5):c.1852T>C (p.Tyr618His) rs146649407 0.00009
NM_015072.5(TTLL5):c.233G>A (p.Arg78His) rs750217504 0.00009
NM_015072.5(TTLL5):c.3437A>G (p.Tyr1146Cys) rs146889412 0.00009
NM_015072.5(TTLL5):c.3447A>G (p.Gln1149=) rs140548477 0.00009
NM_015072.5(TTLL5):c.3756A>G (p.Glu1252=) rs146101884 0.00009
NM_015072.5(TTLL5):c.3785T>C (p.Leu1262Pro) rs143635737 0.00009
NM_015072.5(TTLL5):c.513G>A (p.Ser171=) rs375994206 0.00009
NM_015072.5(TTLL5):c.51G>C (p.Glu17Asp) rs369916219 0.00009
NM_015072.5(TTLL5):c.879A>G (p.Lys293=) rs202058075 0.00009
NM_015072.5(TTLL5):c.1289G>A (p.Arg430His) rs757963244 0.00008
NM_015072.5(TTLL5):c.172G>T (p.Val58Leu) rs763162558 0.00008
NM_015072.5(TTLL5):c.2089G>A (p.Gly697Ser) rs367910225 0.00008
NM_015072.5(TTLL5):c.2137-4A>G rs763286618 0.00008
NM_015072.5(TTLL5):c.3508C>T (p.Arg1170Ter) rs769845921 0.00008
NM_015072.5(TTLL5):c.3823+10C>T rs372087412 0.00008
NM_015072.5(TTLL5):c.526C>T (p.Pro176Ser) rs146224123 0.00008
NM_015072.5(TTLL5):c.1433G>A (p.Arg478Gln) rs1029865156 0.00007
NM_015072.5(TTLL5):c.2966G>A (p.Arg989His) rs375900619 0.00007
NM_015072.5(TTLL5):c.3172-13G>A rs370039944 0.00007
NM_015072.5(TTLL5):c.3331C>T (p.Leu1111=) rs758786838 0.00007
NM_015072.5(TTLL5):c.3691C>T (p.Pro1231Ser) rs11844617 0.00007
NM_015072.5(TTLL5):c.1281+9A>G rs374428308 0.00006
NM_015072.5(TTLL5):c.1497C>T (p.Leu499=) rs778083827 0.00006
NM_015072.5(TTLL5):c.1626C>T (p.Tyr542=) rs377113362 0.00006
NM_015072.5(TTLL5):c.2199A>G (p.Val733=) rs908319583 0.00006
NM_015072.5(TTLL5):c.2815G>A (p.Val939Ile) rs200806918 0.00006
NM_015072.5(TTLL5):c.3699C>T (p.His1233=) rs185999044 0.00006
NM_015072.5(TTLL5):c.431C>T (p.Thr144Ile) rs200596181 0.00006
NM_015072.5(TTLL5):c.486G>A (p.Glu162=) rs374680809 0.00006
NM_015072.5(TTLL5):c.491C>T (p.Ala164Val) rs370083774 0.00006
NM_015072.5(TTLL5):c.655+20T>G rs762213780 0.00006
NM_015072.5(TTLL5):c.74+6T>G rs751971515 0.00006
NM_015072.5(TTLL5):c.781C>T (p.Arg261Trp) rs563243448 0.00006
NM_015072.5(TTLL5):c.850G>A (p.Asp284Asn) rs143218190 0.00006
NM_015072.5(TTLL5):c.983C>T (p.Ala328Val) rs138264261 0.00006
NM_015072.5(TTLL5):c.986A>G (p.Glu329Gly) rs774802227 0.00006
NM_015072.5(TTLL5):c.1214G>A (p.Arg405Gln) rs370288328 0.00005
NM_015072.5(TTLL5):c.2016-4A>G rs760629839 0.00005
NM_015072.5(TTLL5):c.2057A>G (p.His686Arg) rs758944388 0.00005
NM_015072.5(TTLL5):c.208G>T (p.Val70Leu) rs761068583 0.00005
NM_015072.5(TTLL5):c.2230C>T (p.Arg744Cys) rs201309706 0.00005
NM_015072.5(TTLL5):c.2439T>G (p.Ser813=) rs374776244 0.00005
NM_015072.5(TTLL5):c.25C>G (p.Leu9Val) rs747924529 0.00005
NM_015072.5(TTLL5):c.2987-11C>T rs377468714 0.00005
NM_015072.5(TTLL5):c.3104G>A (p.Arg1035Gln) rs767213119 0.00005
NM_015072.5(TTLL5):c.3126G>A (p.Ala1042=) rs528586611 0.00005
NM_015072.5(TTLL5):c.3376G>A (p.Val1126Met) rs542956518 0.00005
NM_015072.5(TTLL5):c.389G>A (p.Arg130Gln) rs757381290 0.00005
NM_015072.5(TTLL5):c.426G>A (p.Gln142=) rs777618669 0.00005
NM_015072.5(TTLL5):c.468C>G (p.Thr156=) rs149433867 0.00005
NM_015072.5(TTLL5):c.935-15A>C rs1043689423 0.00005
NM_015072.5(TTLL5):c.1124+14A>G rs759219958 0.00004
NM_015072.5(TTLL5):c.1259G>A (p.Arg420Gln) rs770816273 0.00004
NM_015072.5(TTLL5):c.1269C>A (p.Phe423Leu) rs189135452 0.00004
NM_015072.5(TTLL5):c.127G>T (p.Val43Leu) rs144141238 0.00004
NM_015072.5(TTLL5):c.129A>G (p.Val43=) rs1004624962 0.00004
NM_015072.5(TTLL5):c.1534C>T (p.Arg512Cys) rs746661330 0.00004
NM_015072.5(TTLL5):c.1621C>G (p.Leu541Val) rs1378778170 0.00004
NM_015072.5(TTLL5):c.1708+7G>A rs374854761 0.00004
NM_015072.5(TTLL5):c.2061T>A (p.Val687=) rs1009745600 0.00004
NM_015072.5(TTLL5):c.2132_2135dup (p.Met712fs) rs781415819 0.00004
NM_015072.5(TTLL5):c.2143G>C (p.Val715Leu) rs751595648 0.00004
NM_015072.5(TTLL5):c.2166A>G (p.Ala722=) rs541700043 0.00004
NM_015072.5(TTLL5):c.2210G>A (p.Arg737Gln) rs762742540 0.00004
NM_015072.5(TTLL5):c.2212C>T (p.Arg738Ter) rs377702881 0.00004
NM_015072.5(TTLL5):c.2234G>A (p.Arg745Lys) rs373164064 0.00004
NM_015072.5(TTLL5):c.232C>T (p.Arg78Cys) rs369997391 0.00004
NM_015072.5(TTLL5):c.2573C>T (p.Thr858Met) rs142328630 0.00004
NM_015072.5(TTLL5):c.2626G>C (p.Glu876Gln) rs760860657 0.00004
NM_015072.5(TTLL5):c.2987-10G>A rs777187943 0.00004
NM_015072.5(TTLL5):c.3020T>C (p.Ile1007Thr) rs754769449 0.00004
NM_015072.5(TTLL5):c.3145A>G (p.Ser1049Gly) rs147228168 0.00004
NM_015072.5(TTLL5):c.3172-16C>G rs762842146 0.00004
NM_015072.5(TTLL5):c.3263C>T (p.Pro1088Leu) rs767195442 0.00004
NM_015072.5(TTLL5):c.3375C>T (p.Asn1125=) rs377388883 0.00004
NM_015072.5(TTLL5):c.3700G>A (p.Glu1234Lys) rs772723003 0.00004
NM_015072.5(TTLL5):c.3747C>T (p.Ser1249=) rs367807893 0.00004
NM_015072.5(TTLL5):c.3753G>A (p.Ala1251=) rs142835737 0.00004
NM_015072.5(TTLL5):c.387C>T (p.Thr129=) rs373045019 0.00004
NM_015072.5(TTLL5):c.398G>A (p.Arg133Gln) rs533894435 0.00004
NM_015072.5(TTLL5):c.53A>G (p.Asp18Gly) rs776534405 0.00004
NM_015072.5(TTLL5):c.567C>T (p.Gly189=) rs369856390 0.00004
NM_015072.5(TTLL5):c.75-8C>T rs574913177 0.00004
NM_015072.5(TTLL5):c.843-16T>C rs199828180 0.00004
NM_015072.5(TTLL5):c.990A>G (p.Leu330=) rs191549100 0.00004
NM_015072.5(TTLL5):c.1065C>T (p.Leu355=) rs750525552 0.00003
NM_015072.5(TTLL5):c.1070A>T (p.Asp357Val) rs756216913 0.00003
NM_015072.5(TTLL5):c.138C>T (p.Ala46=) rs570513349 0.00003
NM_015072.5(TTLL5):c.1521T>C (p.Tyr507=) rs749599859 0.00003
NM_015072.5(TTLL5):c.189T>C (p.Tyr63=) rs772480677 0.00003
NM_015072.5(TTLL5):c.2015+20A>G rs747534524 0.00003
NM_015072.5(TTLL5):c.2602+1G>A rs867401129 0.00003
NM_015072.5(TTLL5):c.2652C>G (p.Ser884=) rs758830351 0.00003
NM_015072.5(TTLL5):c.2742C>T (p.His914=) rs199750590 0.00003
NM_015072.5(TTLL5):c.296T>C (p.Met99Thr) rs142141819 0.00003
NM_015072.5(TTLL5):c.3067C>T (p.Arg1023Trp) rs559290024 0.00003
NM_015072.5(TTLL5):c.3155A>G (p.Asn1052Ser) rs138819117 0.00003
NM_015072.5(TTLL5):c.573C>T (p.Tyr191=) rs992948596 0.00003
NM_015072.5(TTLL5):c.625C>T (p.Arg209Cys) rs757525224 0.00003
NM_015072.5(TTLL5):c.936A>G (p.Ala312=) rs760113065 0.00003
NM_015072.5(TTLL5):c.1013C>T (p.Thr338Ile) rs142999332 0.00002
NM_015072.5(TTLL5):c.1060G>A (p.Val354Met) rs781509883 0.00002
NM_015072.5(TTLL5):c.1116T>C (p.Ser372=) rs546587085 0.00002
NM_015072.5(TTLL5):c.1166C>G (p.Ser389Ter) rs774889687 0.00002
NM_015072.5(TTLL5):c.1222A>G (p.Thr408Ala) rs752741850 0.00002
NM_015072.5(TTLL5):c.1282-6C>T rs774267442 0.00002
NM_015072.5(TTLL5):c.1291C>T (p.Pro431Ser) rs750993500 0.00002
NM_015072.5(TTLL5):c.1337C>T (p.Ala446Val) rs772710450 0.00002
NM_015072.5(TTLL5):c.1359G>C (p.Lys453Asn) rs756685377 0.00002
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter) rs753018563 0.00002
NM_015072.5(TTLL5):c.1535G>A (p.Arg512His) rs770398766 0.00002
NM_015072.5(TTLL5):c.1552A>G (p.Met518Val) rs774032319 0.00002
NM_015072.5(TTLL5):c.1667G>A (p.Arg556Gln) rs140783328 0.00002
NM_015072.5(TTLL5):c.1669C>T (p.Arg557Trp) rs771955076 0.00002
NM_015072.5(TTLL5):c.1680A>C (p.Arg560Ser) rs759541989 0.00002
NM_015072.5(TTLL5):c.1709-18G>C rs200028462 0.00002
NM_015072.5(TTLL5):c.1718A>G (p.Gln573Arg) rs746942017 0.00002
NM_015072.5(TTLL5):c.184C>T (p.Arg62Cys) rs948170380 0.00002
NM_015072.5(TTLL5):c.1915G>A (p.Glu639Lys) rs150898821 0.00002
NM_015072.5(TTLL5):c.1998A>G (p.Gln666=) rs552134181 0.00002
NM_015072.5(TTLL5):c.2029C>T (p.Arg677Ter) rs138370992 0.00002
NM_015072.5(TTLL5):c.2040C>G (p.Phe680Leu) rs758606045 0.00002
NM_015072.5(TTLL5):c.2136+7C>G rs781673837 0.00002
NM_015072.5(TTLL5):c.2178C>G (p.Leu726=) rs769802064 0.00002
NM_015072.5(TTLL5):c.2214A>G (p.Arg738=) rs1303705444 0.00002
NM_015072.5(TTLL5):c.2215T>C (p.Leu739=) rs774690827 0.00002
NM_015072.5(TTLL5):c.2231G>A (p.Arg744His) rs766807897 0.00002
NM_015072.5(TTLL5):c.2265T>G (p.Phe755Leu) rs745316288 0.00002
NM_015072.5(TTLL5):c.2388-2A>G rs752669828 0.00002
NM_015072.5(TTLL5):c.2515+8T>C rs753526114 0.00002
NM_015072.5(TTLL5):c.260A>G (p.His87Arg) rs1392147107 0.00002
NM_015072.5(TTLL5):c.2648A>G (p.Asn883Ser) rs752768188 0.00002
NM_015072.5(TTLL5):c.2712A>G (p.Thr904=) rs778299564 0.00002
NM_015072.5(TTLL5):c.3192A>G (p.Ala1064=) rs544253053 0.00002
NM_015072.5(TTLL5):c.3367G>C (p.Glu1123Gln) rs779740755 0.00002
NM_015072.5(TTLL5):c.3488G>A (p.Arg1163Gln) rs557573661 0.00002
NM_015072.5(TTLL5):c.3519C>T (p.His1173=) rs762267171 0.00002
NM_015072.5(TTLL5):c.3562T>C (p.Trp1188Arg) rs771218524 0.00002
NM_015072.5(TTLL5):c.3750C>T (p.Ser1250=) rs767719777 0.00002
NM_015072.5(TTLL5):c.3772C>T (p.Leu1258Phe) rs755399179 0.00002
NM_015072.5(TTLL5):c.458T>A (p.Leu153His) rs762781195 0.00002
NM_015072.5(TTLL5):c.512C>T (p.Ser171Leu) rs755712371 0.00002
NM_015072.5(TTLL5):c.603G>A (p.Leu201=) rs753322914 0.00002
NM_015072.5(TTLL5):c.626G>A (p.Arg209His) rs781617968 0.00002
NM_015072.5(TTLL5):c.793A>G (p.Met265Val) rs141360303 0.00002
NM_015072.5(TTLL5):c.859G>A (p.Val287Met) rs761251852 0.00002
NM_015072.5(TTLL5):c.864G>A (p.Glu288=) rs371882450 0.00002
NM_015072.5(TTLL5):c.86G>A (p.Cys29Tyr) rs1207808142 0.00002
NM_015072.5(TTLL5):c.886A>G (p.Met296Val) rs756717509 0.00002
NM_015072.5(TTLL5):c.967A>C (p.Lys323Gln) rs375373706 0.00002
NM_015072.5(TTLL5):c.1028G>A (p.Arg343His) rs759880353 0.00001
NM_015072.5(TTLL5):c.103G>A (p.Gly35Ser) rs1049723430 0.00001
NM_015072.5(TTLL5):c.1043-3T>C rs751364673 0.00001
NM_015072.5(TTLL5):c.1086A>C (p.Pro362=) rs146212436 0.00001
NM_015072.5(TTLL5):c.1099G>A (p.Val367Met) rs1361306305 0.00001
NM_015072.5(TTLL5):c.1131G>A (p.Ala377=) rs758828125 0.00001
NM_015072.5(TTLL5):c.1156A>G (p.Ser386Gly) rs745555170 0.00001
NM_015072.5(TTLL5):c.1183G>A (p.Val395Ile) rs767267264 0.00001
NM_015072.5(TTLL5):c.1197C>G (p.Cys399Trp) rs137910976 0.00001
NM_015072.5(TTLL5):c.1206T>C (p.Pro402=) rs370816365 0.00001
NM_015072.5(TTLL5):c.1235A>T (p.Tyr412Phe) rs757710361 0.00001
NM_015072.5(TTLL5):c.1271A>G (p.Gln424Arg) rs769960522 0.00001
NM_015072.5(TTLL5):c.1278T>G (p.Pro426=) rs775565673 0.00001
NM_015072.5(TTLL5):c.1295T>C (p.Leu432Pro) rs544297180 0.00001
NM_015072.5(TTLL5):c.1303A>G (p.Ser435Gly) rs1345632163 0.00001
NM_015072.5(TTLL5):c.1340G>A (p.Arg447Gln) rs745935869 0.00001
NM_015072.5(TTLL5):c.1396-6A>T rs1485747526 0.00001
NM_015072.5(TTLL5):c.1426A>G (p.Asn476Asp) rs1344318163 0.00001
NM_015072.5(TTLL5):c.1451G>A (p.Arg484His) rs746377581 0.00001
NM_015072.5(TTLL5):c.1453A>C (p.Ile485Leu) rs770110882 0.00001
NM_015072.5(TTLL5):c.1488-1G>T rs990308427 0.00001
NM_015072.5(TTLL5):c.1569G>A (p.Ala523=) rs756048011 0.00001
NM_015072.5(TTLL5):c.1588A>G (p.Ser530Gly) rs1399561968 0.00001
NM_015072.5(TTLL5):c.1660C>T (p.Arg554Cys) rs768721194 0.00001
NM_015072.5(TTLL5):c.1733A>G (p.Asn578Ser) rs1179379927 0.00001
NM_015072.5(TTLL5):c.1754G>A (p.Ser585Asn) rs749266782 0.00001
NM_015072.5(TTLL5):c.1764G>A (p.Glu588=) rs375691247 0.00001
NM_015072.5(TTLL5):c.181+5G>A rs762077466 0.00001
NM_015072.5(TTLL5):c.1816G>A (p.Glu606Lys) rs762434843 0.00001
NM_015072.5(TTLL5):c.182-11T>G rs1884611963 0.00001
NM_015072.5(TTLL5):c.1826G>A (p.Gly609Glu) rs751543052 0.00001
NM_015072.5(TTLL5):c.1835G>A (p.Arg612Lys) rs1890963625 0.00001
NM_015072.5(TTLL5):c.1847C>G (p.Ala616Gly) rs750134887 0.00001
NM_015072.5(TTLL5):c.1851A>G (p.Lys617=) rs977927246 0.00001
NM_015072.5(TTLL5):c.1947A>T (p.Lys649Asn) rs1890966914 0.00001
NM_015072.5(TTLL5):c.1949T>C (p.Leu650Pro) rs1200300838 0.00001
NM_015072.5(TTLL5):c.1968G>A (p.Glu656=) rs1200293120 0.00001
NM_015072.5(TTLL5):c.1987C>T (p.Gln663Ter) rs754048173 0.00001
NM_015072.5(TTLL5):c.1993C>T (p.Leu665Phe) rs532337280 0.00001
NM_015072.5(TTLL5):c.2015+4T>A rs1405014113 0.00001
NM_015072.5(TTLL5):c.2030G>A (p.Arg677Gln) rs765491333 0.00001
NM_015072.5(TTLL5):c.2088C>T (p.Gly696=) rs149255191 0.00001
NM_015072.5(TTLL5):c.212G>A (p.Arg71Gln) rs775184984 0.00001
NM_015072.5(TTLL5):c.2146G>A (p.Val716Ile) rs762017662 0.00001
NM_015072.5(TTLL5):c.2149C>T (p.Arg717Cys) rs562332993 0.00001
NM_015072.5(TTLL5):c.2162G>A (p.Arg721Gln) rs746631669 0.00001
NM_015072.5(TTLL5):c.218A>G (p.Asp73Gly) rs1212233539 0.00001
NM_015072.5(TTLL5):c.2260G>C (p.Asp754His) rs1488865083 0.00001
NM_015072.5(TTLL5):c.2268C>T (p.Ile756=) rs756125504 0.00001
NM_015072.5(TTLL5):c.2333A>T (p.Glu778Val) rs1471151107 0.00001
NM_015072.5(TTLL5):c.2354T>C (p.Met785Thr) rs1373380553 0.00001
NM_015072.5(TTLL5):c.2388-10C>T rs1266790286 0.00001
NM_015072.5(TTLL5):c.2388-11C>A rs1054044849 0.00001
NM_015072.5(TTLL5):c.2457G>A (p.Gly819=) rs759018960 0.00001
NM_015072.5(TTLL5):c.2516-6T>A rs752157376 0.00001
NM_015072.5(TTLL5):c.2603-12T>C rs1892160523 0.00001
NM_015072.5(TTLL5):c.2603-4A>G rs550463902 0.00001
NM_015072.5(TTLL5):c.2722C>G (p.Leu908Val) rs771470144 0.00001
NM_015072.5(TTLL5):c.2748T>C (p.Ser916=) rs776521337 0.00001
NM_015072.5(TTLL5):c.2781C>T (p.Ser927=) rs757720836 0.00001
NM_015072.5(TTLL5):c.278G>C (p.Ser93Thr) rs1884795213 0.00001
NM_015072.5(TTLL5):c.27G>A (p.Leu9=) rs1002516091 0.00001
NM_015072.5(TTLL5):c.2800A>G (p.Ile934Val) rs750728848 0.00001
NM_015072.5(TTLL5):c.2851G>A (p.Ala951Thr) rs769458841 0.00001
NM_015072.5(TTLL5):c.2990C>T (p.Ser997Leu) rs759872181 0.00001
NM_015072.5(TTLL5):c.3011A>G (p.His1004Arg) rs1892808471 0.00001
NM_015072.5(TTLL5):c.3057A>G (p.Leu1019=) rs778638291 0.00001
NM_015072.5(TTLL5):c.3098T>G (p.Leu1033Arg) rs1489208821 0.00001
NM_015072.5(TTLL5):c.3103C>T (p.Arg1035Trp) rs1348688599 0.00001
NM_015072.5(TTLL5):c.3158T>G (p.Leu1053Arg) rs776004403 0.00001
NM_015072.5(TTLL5):c.3165C>G (p.Thr1055=) rs1345050043 0.00001
NM_015072.5(TTLL5):c.3171+5G>A rs374699458 0.00001
NM_015072.5(TTLL5):c.3172-2A>G rs756311924 0.00001
NM_015072.5(TTLL5):c.3172-8A>T rs750662947 0.00001
NM_015072.5(TTLL5):c.3187T>C (p.Leu1063=) rs144549986 0.00001
NM_015072.5(TTLL5):c.3199A>G (p.Ile1067Val) rs772308042 0.00001
NM_015072.5(TTLL5):c.3256A>G (p.Ser1086Gly) rs1894740143 0.00001
NM_015072.5(TTLL5):c.3267A>G (p.Thr1089=) rs113744854 0.00001
NM_015072.5(TTLL5):c.3284A>G (p.Asp1095Gly) rs755007471 0.00001
NM_015072.5(TTLL5):c.3289C>A (p.Gln1097Lys) rs779528644 0.00001
NM_015072.5(TTLL5):c.3339A>G (p.Thr1113=) rs1472952117 0.00001
NM_015072.5(TTLL5):c.3510_3519del (p.Ala1171fs) rs2030237603 0.00001
NM_015072.5(TTLL5):c.3514C>T (p.Arg1172Trp) rs763081813 0.00001
NM_015072.5(TTLL5):c.3521A>T (p.Gln1174Leu) rs2030239631 0.00001
NM_015072.5(TTLL5):c.3638A>C (p.Gln1213Pro) rs1218606466 0.00001
NM_015072.5(TTLL5):c.3662C>A (p.Ser1221Tyr) rs1234999111 0.00001
NM_015072.5(TTLL5):c.3706G>T (p.Val1236Leu) rs753751587 0.00001
NM_015072.5(TTLL5):c.3710T>C (p.Leu1237Pro) rs1226502037 0.00001
NM_015072.5(TTLL5):c.3740+15G>C rs749364611 0.00001
NM_015072.5(TTLL5):c.3751G>A (p.Ala1251Thr) rs749147754 0.00001
NM_015072.5(TTLL5):c.3758G>C (p.Gly1253Ala) rs896484588 0.00001
NM_015072.5(TTLL5):c.3760C>T (p.Gln1254Ter) rs140018292 0.00001
NM_015072.5(TTLL5):c.3777G>A (p.Gln1259=) rs200369228 0.00001
NM_015072.5(TTLL5):c.3779G>A (p.Ser1260Asn) rs780814207 0.00001
NM_015072.5(TTLL5):c.378T>C (p.Tyr126=) rs1489134570 0.00001
NM_015072.5(TTLL5):c.3807C>T (p.Pro1269=) rs773960556 0.00001
NM_015072.5(TTLL5):c.3844T>C (p.Ter1282Arg) rs200245431 0.00001
NM_015072.5(TTLL5):c.388C>T (p.Arg130Trp) rs762832841 0.00001
NM_015072.5(TTLL5):c.463C>G (p.Gln155Glu) rs1266723091 0.00001
NM_015072.5(TTLL5):c.472C>T (p.Leu158Phe) rs751426110 0.00001
NM_015072.5(TTLL5):c.512C>G (p.Ser171Trp) rs755712371 0.00001
NM_015072.5(TTLL5):c.520C>T (p.Arg174Trp) rs768601418 0.00001
NM_015072.5(TTLL5):c.562C>T (p.Arg188Trp) rs773542134 0.00001
NM_015072.5(TTLL5):c.586C>G (p.Pro196Ala) rs936113944 0.00001
NM_015072.5(TTLL5):c.602T>A (p.Leu201Gln) rs527434155 0.00001
NM_015072.5(TTLL5):c.629dup (p.Tyr210Ter) rs775585293 0.00001
NM_015072.5(TTLL5):c.636C>A (p.Asn212Lys) rs1014500396 0.00001
NM_015072.5(TTLL5):c.722A>T (p.Tyr241Phe) rs1268833900 0.00001
NM_015072.5(TTLL5):c.74+3A>G rs758975249 0.00001
NM_015072.5(TTLL5):c.741-13T>G rs371336627 0.00001
NM_015072.5(TTLL5):c.741G>A (p.Arg247=) rs765401548 0.00001
NM_015072.5(TTLL5):c.75-6T>G rs759523095 0.00001
NM_015072.5(TTLL5):c.780T>G (p.Ile260Met) rs754612100 0.00001
NM_015072.5(TTLL5):c.796C>A (p.His266Asn) rs940338882 0.00001
NM_015072.5(TTLL5):c.822G>A (p.Lys274=) rs776319636 0.00001
NM_015072.5(TTLL5):c.839T>C (p.Val280Ala) rs751631931 0.00001
NM_015072.5(TTLL5):c.860T>C (p.Val287Ala) rs1189352859 0.00001
NM_015072.5(TTLL5):c.869A>T (p.Tyr290Phe) rs760341785 0.00001
NM_015072.5(TTLL5):c.906C>T (p.Tyr302=) rs780559854 0.00001
NM_015072.5(TTLL5):c.934+14C>G rs773144591 0.00001
NM_015072.5(TTLL5):c.934G>A (p.Ala312Thr) rs147593414 0.00001
NM_015072.5(TTLL5):c.973A>G (p.Ile325Val) rs1324987122 0.00001
NC_000014.8:g.(?_76129493)_(76286524_?)dup
NC_000014.8:g.(?_76147868)_(76150019_?)del
NC_000014.8:g.(?_76147868)_(76349265_?)dup
NC_000014.8:g.(?_76156515)_(76156685_?)del
NC_000014.8:g.(?_76165511)_(76211944_?)del
NC_000014.8:g.(?_76184184)_(76201652_?)del
NC_000014.8:g.(?_76211418)_(76211944_?)del
NC_000014.8:g.(?_76249470)_(76286524_?)del
NC_000014.8:g.(?_76259239)_(76286524_?)del
NC_000014.8:g.(?_76286330)_(76286524_?)del
NC_000014.8:g.(?_76286330)_(76349265_?)del
NC_000014.8:g.(?_76368465)_(76368587_?)del
NC_000014.8:g.(?_76420747)_(76420789_?)del
NC_000014.9:g.(?_75745095)_(75783530_?)del
NC_000014.9:g.(?_75757799)_(75766368_?)del
NC_000014.9:g.(?_75782487)_(75902224_?)del
NM_015072.5(TTLL5):c.1000A>C (p.Thr334Pro) rs1340502181
NM_015072.5(TTLL5):c.1000A>G (p.Thr334Ala)
NM_015072.5(TTLL5):c.1001C>T (p.Thr334Ile)
NM_015072.5(TTLL5):c.1006T>A (p.Cys336Ser) rs1887780973
NM_015072.5(TTLL5):c.100G>A (p.Gly34Arg)
NM_015072.5(TTLL5):c.1027C>T (p.Arg343Cys) rs534989089
NM_015072.5(TTLL5):c.1043-10G>A rs1393443434
NM_015072.5(TTLL5):c.1043-20G>A
NM_015072.5(TTLL5):c.1043-7T>A rs764027289
NM_015072.5(TTLL5):c.1044A>G (p.Glu348=)
NM_015072.5(TTLL5):c.1048T>C (p.Tyr350His) rs1888599962
NM_015072.5(TTLL5):c.1049A>G (p.Tyr350Cys)
NM_015072.5(TTLL5):c.1063C>G (p.Leu355Val) rs1888600511
NM_015072.5(TTLL5):c.1086A>G (p.Pro362=) rs146212436
NM_015072.5(TTLL5):c.1089del (p.Trp363fs)
NM_015072.5(TTLL5):c.1103A>C (p.Asn368Thr)
NM_015072.5(TTLL5):c.1110_1111del (p.Pro371fs)
NM_015072.5(TTLL5):c.1112CTT[1] (p.Ser372del)
NM_015072.5(TTLL5):c.1124+7_1124+8del
NM_015072.5(TTLL5):c.1124+8A>T rs776079901
NM_015072.5(TTLL5):c.1124+9G>T
NM_015072.5(TTLL5):c.1130C>T (p.Ala377Val)
NM_015072.5(TTLL5):c.1138G>T (p.Asp380Tyr)
NM_015072.5(TTLL5):c.1152A>G (p.Lys384=)
NM_015072.5(TTLL5):c.1186+18C>G
NM_015072.5(TTLL5):c.1186+1G>A
NM_015072.5(TTLL5):c.1186+1del rs2140236907
NM_015072.5(TTLL5):c.1187-14C>T
NM_015072.5(TTLL5):c.1187-20G>A
NM_015072.5(TTLL5):c.1187-2A>G
NM_015072.5(TTLL5):c.1187-8_1187-7delinsTG rs2140239015
NM_015072.5(TTLL5):c.1187-9C>A
NM_015072.5(TTLL5):c.1188A>G (p.Gly396=)
NM_015072.5(TTLL5):c.1194G>T (p.Val398=) rs760462202
NM_015072.5(TTLL5):c.1213C>T (p.Arg405Trp)
NM_015072.5(TTLL5):c.1225C>T (p.Arg409Trp)
NM_015072.5(TTLL5):c.1227G>T (p.Arg409=) rs1191504919
NM_015072.5(TTLL5):c.1231A>G (p.Ile411Val)
NM_015072.5(TTLL5):c.1241C>T (p.Thr414Ile) rs1034642536
NM_015072.5(TTLL5):c.1242C>T (p.Thr414=)
NM_015072.5(TTLL5):c.1242del (p.Phe415fs) rs1309614617
NM_015072.5(TTLL5):c.1245T>A (p.Phe415Leu) rs1394272444
NM_015072.5(TTLL5):c.1248del (p.Glu416fs) rs1408235770
NM_015072.5(TTLL5):c.1258C>G (p.Arg420Gly) rs541400148
NM_015072.5(TTLL5):c.1258C>T (p.Arg420Ter) rs541400148
NM_015072.5(TTLL5):c.1265C>A (p.Pro422His)
NM_015072.5(TTLL5):c.1269C>T (p.Phe423=)
NM_015072.5(TTLL5):c.1270C>T (p.Gln424Ter)
NM_015072.5(TTLL5):c.1281+18C>G
NM_015072.5(TTLL5):c.1281+18C>T
NM_015072.5(TTLL5):c.1281+19A>G
NM_015072.5(TTLL5):c.1282-16A>G
NM_015072.5(TTLL5):c.1282-18_1282-17delinsAA
NM_015072.5(TTLL5):c.1282-20_1282-18del
NM_015072.5(TTLL5):c.1282-2A>G
NM_015072.5(TTLL5):c.1282C>T (p.Arg428Cys) rs1159674027
NM_015072.5(TTLL5):c.1285T>G (p.Cys429Gly)
NM_015072.5(TTLL5):c.1288C>G (p.Arg430Gly) rs766847101
NM_015072.5(TTLL5):c.1288C>T (p.Arg430Cys) rs766847101
NM_015072.5(TTLL5):c.1301C>T (p.Ala434Val) rs1889526717
NM_015072.5(TTLL5):c.1302C>A (p.Ala434=)
NM_015072.5(TTLL5):c.1311G>A (p.Ala437=)
NM_015072.5(TTLL5):c.1312G>T (p.Glu438Ter) rs2140258948
NM_015072.5(TTLL5):c.1327G>A (p.Val443Met) rs150806352
NM_015072.5(TTLL5):c.1327G>T (p.Val443Leu) rs150806352
NM_015072.5(TTLL5):c.1339C>G (p.Arg447Gly) rs139653147
NM_015072.5(TTLL5):c.1339C>T (p.Arg447Trp) rs139653147
NM_015072.5(TTLL5):c.1340G>C (p.Arg447Pro)
NM_015072.5(TTLL5):c.1353A>G (p.Pro451=)
NM_015072.5(TTLL5):c.1359G>A (p.Lys453=)
NM_015072.5(TTLL5):c.1372G>C (p.Val458Leu) rs1286182596
NM_015072.5(TTLL5):c.1395+14C>T
NM_015072.5(TTLL5):c.1396-16C>T
NM_015072.5(TTLL5):c.1396-1G>C
NM_015072.5(TTLL5):c.139G>T (p.Asp47Tyr) rs777806616
NM_015072.5(TTLL5):c.13A>T (p.Met5Leu) rs1467031622
NM_015072.5(TTLL5):c.1403T>G (p.Val468Gly) rs2140259750
NM_015072.5(TTLL5):c.1432C>T (p.Arg478Trp)
NM_015072.5(TTLL5):c.1436G>A (p.Arg479Gln)
NM_015072.5(TTLL5):c.1442G>C (p.Gly481Ala) rs771482604
NM_015072.5(TTLL5):c.1453A>T (p.Ile485Leu)
NM_015072.5(TTLL5):c.1455A>G (p.Ile485Met)
NM_015072.5(TTLL5):c.1460_1464delinsTC (p.Pro487_Thr488delinsLeu)
NM_015072.5(TTLL5):c.1462A>G (p.Thr488Ala)
NM_015072.5(TTLL5):c.1464A>G (p.Thr488=) rs1186595068
NM_015072.5(TTLL5):c.1464A>T (p.Thr488=) rs1186595068
NM_015072.5(TTLL5):c.1482A>G (p.Ile494Met)
NM_015072.5(TTLL5):c.1483T>A (p.Tyr495Asn) rs1594960482
NM_015072.5(TTLL5):c.1483T>C (p.Tyr495His)
NM_015072.5(TTLL5):c.1487+10C>A rs1406825117
NM_015072.5(TTLL5):c.1487+13C>G
NM_015072.5(TTLL5):c.1487+24del
NM_015072.5(TTLL5):c.1487+24dup rs200428868
NM_015072.5(TTLL5):c.1487+8G>A
NM_015072.5(TTLL5):c.1488-13C>A rs2140274638
NM_015072.5(TTLL5):c.1493A>G (p.Tyr498Cys) rs758716349
NM_015072.5(TTLL5):c.1493A>T (p.Tyr498Phe) rs758716349
NM_015072.5(TTLL5):c.1506G>T (p.Lys502Asn) rs950066641
NM_015072.5(TTLL5):c.1509C>T (p.Thr503=) rs2140274685
NM_015072.5(TTLL5):c.1520A>C (p.Tyr507Ser) rs201413053
NM_015072.5(TTLL5):c.1520A>G (p.Tyr507Cys) rs201413053
NM_015072.5(TTLL5):c.1550+17C>T
NM_015072.5(TTLL5):c.1550G>A (p.Arg517Lys) rs2140274721
NM_015072.5(TTLL5):c.1551-2A>G rs1359166382
NM_015072.5(TTLL5):c.1551-3T>C
NM_015072.5(TTLL5):c.1551-4C>T rs1473312189
NM_015072.5(TTLL5):c.1558G>A (p.Ala520Thr)
NM_015072.5(TTLL5):c.155del (p.Lys52fs)
NM_015072.5(TTLL5):c.1585G>A (p.Glu529Lys)
NM_015072.5(TTLL5):c.1587G>A (p.Glu529=)
NM_015072.5(TTLL5):c.1592T>C (p.Leu531Pro) rs147617989
NM_015072.5(TTLL5):c.1594A>C (p.Asn532His) rs554208608
NM_015072.5(TTLL5):c.1607A>G (p.Lys536Arg) rs1382142246
NM_015072.5(TTLL5):c.1619C>T (p.Ala540Val) rs1178403095
NM_015072.5(TTLL5):c.1627G>T (p.Glu543Ter) rs199882533
NM_015072.5(TTLL5):c.162C>T (p.Asn54=)
NM_015072.5(TTLL5):c.1634A>T (p.Lys545Met) rs1464081739
NM_015072.5(TTLL5):c.1637T>C (p.Leu546Pro)
NM_015072.5(TTLL5):c.1642T>C (p.Ser548Pro)
NM_015072.5(TTLL5):c.1644T>C (p.Ser548=) rs2140296882
NM_015072.5(TTLL5):c.1650G>A (p.Glu550=)
NM_015072.5(TTLL5):c.1665ACG[1] (p.Arg557del)
NM_015072.5(TTLL5):c.1666C>A (p.Arg556=) rs770811029
NM_015072.5(TTLL5):c.1666C>G (p.Arg556Gly) rs770811029
NM_015072.5(TTLL5):c.1666C>T (p.Arg556Ter) rs770811029
NM_015072.5(TTLL5):c.1673G>C (p.Ser558Thr) rs771095455
NM_015072.5(TTLL5):c.1685G>A (p.Arg562Lys)
NM_015072.5(TTLL5):c.1691T>C (p.Met564Thr)
NM_015072.5(TTLL5):c.1705C>T (p.Pro569Ser) rs764559135
NM_015072.5(TTLL5):c.1706C>T (p.Pro569Leu) rs1890859098
NM_015072.5(TTLL5):c.1709-18G>T
NM_015072.5(TTLL5):c.1709-19A>T rs2140299070
NM_015072.5(TTLL5):c.1709-19_1709-13del
NM_015072.5(TTLL5):c.1709-20T>G
NM_015072.5(TTLL5):c.1709-7T>A rs2359870
NM_015072.5(TTLL5):c.1709-8_1709-7inv
NM_015072.5(TTLL5):c.1719A>G (p.Gln573=) rs200095377
NM_015072.5(TTLL5):c.1721C>A (p.Pro574Gln) rs2140299148
NM_015072.5(TTLL5):c.1734T>C (p.Asn578=)
NM_015072.5(TTLL5):c.1738A>T (p.Lys580Ter)
NM_015072.5(TTLL5):c.174A>G (p.Val58=)
NM_015072.5(TTLL5):c.1766A>G (p.Glu589Gly)
NM_015072.5(TTLL5):c.1773C>A (p.Val591=) rs61741261
NM_015072.5(TTLL5):c.1782T>C (p.Asp594=)
NM_015072.5(TTLL5):c.1790A>G (p.Asp597Gly)
NM_015072.5(TTLL5):c.1800G>A (p.Gln600=)
NM_015072.5(TTLL5):c.1803G>A (p.Glu601=) rs1333657823
NM_015072.5(TTLL5):c.1804G>A (p.Ala602Thr) rs752254666
NM_015072.5(TTLL5):c.181+18C>G
NM_015072.5(TTLL5):c.181+7A>G
NM_015072.5(TTLL5):c.181+9A>G
NM_015072.5(TTLL5):c.1810del (p.Gln604fs) rs1890963211
NM_015072.5(TTLL5):c.181G>A (p.Glu61Lys) rs2140090695
NM_015072.5(TTLL5):c.182-17A>G rs1483184702
NM_015072.5(TTLL5):c.182-4T>A rs2140117778
NM_015072.5(TTLL5):c.1821T>C (p.Ser607=) rs763577337
NM_015072.5(TTLL5):c.1827A>G (p.Gly609=)
NM_015072.5(TTLL5):c.1858C>A (p.Pro620Thr) rs1313446228
NM_015072.5(TTLL5):c.1873T>G (p.Leu625Val)
NM_015072.5(TTLL5):c.1888C>G (p.Pro630Ala) rs1890964850
NM_015072.5(TTLL5):c.1897A>T (p.Asn633Tyr) rs141429300
NM_015072.5(TTLL5):c.1906A>C (p.Lys636Gln) rs760885007
NM_015072.5(TTLL5):c.1906A>G (p.Lys636Glu) rs760885007
NM_015072.5(TTLL5):c.190C>A (p.His64Asn) rs1045431257
NM_015072.5(TTLL5):c.1913G>A (p.Arg638His) rs1399888208
NM_015072.5(TTLL5):c.1914T>C (p.Arg638=)
NM_015072.5(TTLL5):c.1924A>G (p.Asn642Asp) rs1286609816
NM_015072.5(TTLL5):c.1935A>G (p.Gly645=) rs1017236925
NM_015072.5(TTLL5):c.1937A>C (p.His646Pro) rs1223629458
NM_015072.5(TTLL5):c.1962G>A (p.Glu654=)
NM_015072.5(TTLL5):c.1970C>T (p.Pro657Leu) rs1890967870
NM_015072.5(TTLL5):c.200A>G (p.Tyr67Cys)
NM_015072.5(TTLL5):c.2015+17_2015+22del rs2140299424
NM_015072.5(TTLL5):c.2015+7A>G
NM_015072.5(TTLL5):c.2015G>A (p.Ser672Asn) rs748183829
NM_015072.5(TTLL5):c.2016-20G>A rs1891334608
NM_015072.5(TTLL5):c.2016-3T>C rs1566596891
NM_015072.5(TTLL5):c.2023C>T (p.Gln675Ter)
NM_015072.5(TTLL5):c.2064A>G (p.Gln688=)
NM_015072.5(TTLL5):c.2068C>T (p.Arg690Cys)
NM_015072.5(TTLL5):c.2079A>G (p.Lys693=) rs2140309147
NM_015072.5(TTLL5):c.2091T>C (p.Gly697=)
NM_015072.5(TTLL5):c.2097G>A (p.Thr699=)
NM_015072.5(TTLL5):c.2100C>A (p.Phe700Leu)
NM_015072.5(TTLL5):c.2106C>T (p.Ala702=)
NM_015072.5(TTLL5):c.2108G>A (p.Ser703Asn) rs1891340387
NM_015072.5(TTLL5):c.2131_2136+20del
NM_015072.5(TTLL5):c.2136+13T>C
NM_015072.5(TTLL5):c.2136+18G>C
NM_015072.5(TTLL5):c.2137-17G>A
NM_015072.5(TTLL5):c.2137-18C>T
NM_015072.5(TTLL5):c.2137-20C>T
NM_015072.5(TTLL5):c.2137-5del rs775309945
NM_015072.5(TTLL5):c.2137-7T>C
NM_015072.5(TTLL5):c.2155C>T (p.Leu719Phe) rs2140317194
NM_015072.5(TTLL5):c.2159_2160delinsTT (p.Lys720Ile) rs2140317201
NM_015072.5(TTLL5):c.2176C>T (p.Leu726Phe) rs1224068762
NM_015072.5(TTLL5):c.2182C>T (p.His728Tyr) rs2140317232
NM_015072.5(TTLL5):c.2190G>A (p.Leu730=)
NM_015072.5(TTLL5):c.2209C>T (p.Arg737Ter) rs1555344661
NM_015072.5(TTLL5):c.2215T>A (p.Leu739Met) rs774690827
NM_015072.5(TTLL5):c.2220A>G (p.Ala740=)
NM_015072.5(TTLL5):c.224G>A (p.Arg75His) rs751047559
NM_015072.5(TTLL5):c.2251del (p.Gln751fs)
NM_015072.5(TTLL5):c.2261dup (p.Asp754fs) rs1891670149
NM_015072.5(TTLL5):c.2264T>G (p.Phe755Cys) rs2140317314
NM_015072.5(TTLL5):c.2284-10C>T rs2140319388
NM_015072.5(TTLL5):c.2284-5G>C
NM_015072.5(TTLL5):c.2289A>T (p.Thr763=) rs1462462775
NM_015072.5(TTLL5):c.2290_2291del (p.Glu764fs) rs2140319419
NM_015072.5(TTLL5):c.2316GAA[1] (p.Lys774del) rs2140319429
NM_015072.5(TTLL5):c.2328G>A (p.Glu776=)
NM_015072.5(TTLL5):c.2334_2342del (p.Glu778_Glu780del) rs1251545673
NM_015072.5(TTLL5):c.2349G>A (p.Val783=) rs2140319468
NM_015072.5(TTLL5):c.2365C>T (p.Gln789Ter)
NM_015072.5(TTLL5):c.2387+20G>A
NM_015072.5(TTLL5):c.2388-19C>T
NM_015072.5(TTLL5):c.2388-1G>C rs1206062558
NM_015072.5(TTLL5):c.2388-8_2388-6del
NM_015072.5(TTLL5):c.2394T>A (p.Ala798=)
NM_015072.5(TTLL5):c.2406G>A (p.Glu802=) rs2140324726
NM_015072.5(TTLL5):c.2414C>A (p.Thr805Asn)
NM_015072.5(TTLL5):c.2420A>T (p.Tyr807Phe)
NM_015072.5(TTLL5):c.2442T>C (p.Ala814=) rs2140324758
NM_015072.5(TTLL5):c.2478G>A (p.Lys826=)
NM_015072.5(TTLL5):c.2487C>A (p.Asn829Lys) rs1261281488
NM_015072.5(TTLL5):c.2489A>G (p.Asn830Ser)
NM_015072.5(TTLL5):c.2497G>C (p.Asp833His)
NM_015072.5(TTLL5):c.2501G>T (p.Ser834Ile) rs774808403
NM_015072.5(TTLL5):c.2515+1G>C
NM_015072.5(TTLL5):c.2516-7A>T rs1892118227
NM_015072.5(TTLL5):c.2517T>G (p.Asp839Glu) rs1892118713
NM_015072.5(TTLL5):c.2518C>A (p.His840Asn) rs371166683
NM_015072.5(TTLL5):c.2522C>T (p.Pro841Leu) rs2140330245
NM_015072.5(TTLL5):c.2569C>G (p.Gln857Glu)
NM_015072.5(TTLL5):c.2574G>A (p.Thr858=) rs779622224
NM_015072.5(TTLL5):c.2589T>C (p.Ser863=) rs1440091467
NM_015072.5(TTLL5):c.258T>C (p.Phe86=) rs2140117874
NM_015072.5(TTLL5):c.2591A>T (p.Asp864Val) rs1892120478
NM_015072.5(TTLL5):c.2602+19A>T rs1381455754
NM_015072.5(TTLL5):c.2602+20C>T rs762514241
NM_015072.5(TTLL5):c.2603-16G>C rs369628617
NM_015072.5(TTLL5):c.2603-23TTGTT[2]
NM_015072.5(TTLL5):c.2603-6T>C rs1892161138
NM_015072.5(TTLL5):c.260_261dup (p.Glu88fs)
NM_015072.5(TTLL5):c.2625A>G (p.Lys875=)
NM_015072.5(TTLL5):c.2630C>T (p.Ala877Val) rs766256432
NM_015072.5(TTLL5):c.264+18A>G
NM_015072.5(TTLL5):c.264+20C>T rs2140117924
NM_015072.5(TTLL5):c.2641del (p.Tyr881fs) rs2140331365
NM_015072.5(TTLL5):c.264A>G (p.Glu88=)
NM_015072.5(TTLL5):c.265-10C>G rs1230146916
NM_015072.5(TTLL5):c.265-12G>A
NM_015072.5(TTLL5):c.265-12G>C
NM_015072.5(TTLL5):c.265-18C>T
NM_015072.5(TTLL5):c.265-19T>C
NM_015072.5(TTLL5):c.265-3C>G
NM_015072.5(TTLL5):c.265-5del rs2140122495
NM_015072.5(TTLL5):c.2657C>G (p.Ser886Cys)
NM_015072.5(TTLL5):c.2661T>C (p.Gly887=) rs1892166476
NM_015072.5(TTLL5):c.2665A>C (p.Thr889Pro)
NM_015072.5(TTLL5):c.2665A>G (p.Thr889Ala) rs778408194
NM_015072.5(TTLL5):c.2667T>C (p.Thr889=)
NM_015072.5(TTLL5):c.2690A>G (p.Asn897Ser) rs757665738
NM_015072.5(TTLL5):c.2711C>T (p.Thr904Ile) rs768247311
NM_015072.5(TTLL5):c.2733G>C (p.Gly911=)
NM_015072.5(TTLL5):c.2738G>T (p.Cys913Phe) rs2140331433
NM_015072.5(TTLL5):c.273A>G (p.Pro91=)
NM_015072.5(TTLL5):c.2751T>C (p.Ser917=)
NM_015072.5(TTLL5):c.2752T>G (p.Leu918Val) rs1892168619
NM_015072.5(TTLL5):c.275G>A (p.Ser92Asn) rs747929606
NM_015072.5(TTLL5):c.2760A>C (p.Gln920His) rs765493292
NM_015072.5(TTLL5):c.2760A>G (p.Gln920=)
NM_015072.5(TTLL5):c.2760A>T (p.Gln920His) rs765493292
NM_015072.5(TTLL5):c.2795C>T (p.Pro932Leu) rs2140331485
NM_015072.5(TTLL5):c.2806C>G (p.Leu936Val)
NM_015072.5(TTLL5):c.2812A>T (p.Thr938Ser) rs1004435343
NM_015072.5(TTLL5):c.2837G>A (p.Cys946Tyr) rs1175617813
NM_015072.5(TTLL5):c.2841A>G (p.Leu947=)
NM_015072.5(TTLL5):c.2846C>G (p.Pro949Arg)
NM_015072.5(TTLL5):c.2864C>G (p.Pro955Arg)
NM_015072.5(TTLL5):c.287A>G (p.Tyr96Cys)
NM_015072.5(TTLL5):c.2885G>T (p.Arg962Leu)
NM_015072.5(TTLL5):c.2885dup (p.Cys963fs) rs2140331555
NM_015072.5(TTLL5):c.2890C>T (p.Arg964Ter) rs777359273
NM_015072.5(TTLL5):c.2892A>T (p.Arg964=) rs1595033317
NM_015072.5(TTLL5):c.2933G>A (p.Ser978Asn)
NM_015072.5(TTLL5):c.2936C>T (p.Ala979Val) rs2140331610
NM_015072.5(TTLL5):c.2942A>G (p.His981Arg) rs2140331617
NM_015072.5(TTLL5):c.2968C>G (p.Pro990Ala) rs2140331655
NM_015072.5(TTLL5):c.2975C>T (p.Ser992Leu) rs766790509
NM_015072.5(TTLL5):c.2986+14C>A
NM_015072.5(TTLL5):c.2986+14C>T
NM_015072.5(TTLL5):c.2986+15G>A
NM_015072.5(TTLL5):c.2987-10G>T rs777187943
NM_015072.5(TTLL5):c.2987-12C>G
NM_015072.5(TTLL5):c.2987-4G>T rs1051974404
NM_015072.5(TTLL5):c.2991G>A (p.Ser997=)
NM_015072.5(TTLL5):c.2994C>G (p.Cys998Trp)
NM_015072.5(TTLL5):c.2996A>G (p.Tyr999Cys)
NM_015072.5(TTLL5):c.2999T>C (p.Leu1000Pro) rs2140351914
NM_015072.5(TTLL5):c.3006G>A (p.Lys1002=)
NM_015072.5(TTLL5):c.3019A>T (p.Ile1007Leu)
NM_015072.5(TTLL5):c.301A>C (p.Thr101Pro) rs1469769763
NM_015072.5(TTLL5):c.3049G>A (p.Ala1017Thr) rs1892808918
NM_015072.5(TTLL5):c.3077A>C (p.Gln1026Pro)
NM_015072.5(TTLL5):c.3095A>G (p.Glu1032Gly) rs775951384
NM_015072.5(TTLL5):c.3096A>T (p.Glu1032Asp) rs1396679992
NM_015072.5(TTLL5):c.3100C>T (p.Gln1034Ter)
NM_015072.5(TTLL5):c.3105G>A (p.Arg1035=)
NM_015072.5(TTLL5):c.311A>G (p.His104Arg) rs1884796366
NM_015072.5(TTLL5):c.3125C>T (p.Ala1042Val)
NM_015072.5(TTLL5):c.3131A>G (p.Gln1044Arg) rs1003579033
NM_015072.5(TTLL5):c.3134A>G (p.Tyr1045Cys)
NM_015072.5(TTLL5):c.313C>T (p.Leu105=)
NM_015072.5(TTLL5):c.3140C>T (p.Pro1047Leu)
NM_015072.5(TTLL5):c.3144C>G (p.Ser1048=)
NM_015072.5(TTLL5):c.3153C>A (p.Ile1051=) rs2140352043
NM_015072.5(TTLL5):c.3154A>C (p.Asn1052His)
NM_015072.5(TTLL5):c.3157CTC[1] (p.Leu1054del)
NM_015072.5(TTLL5):c.3159C>T (p.Leu1053=)
NM_015072.5(TTLL5):c.3168A>G (p.Gln1056=)
NM_015072.5(TTLL5):c.3171+19G>A
NM_015072.5(TTLL5):c.3171+9G>T rs2140352083
NM_015072.5(TTLL5):c.3172-14C>A rs199868150
NM_015072.5(TTLL5):c.3172-14C>T
NM_015072.5(TTLL5):c.3172-16C>T rs762842146
NM_015072.5(TTLL5):c.3174A>G (p.Val1058=)
NM_015072.5(TTLL5):c.3177_3180del (p.Thr1059_Asn1060insTer) rs772656461
NM_015072.5(TTLL5):c.3180C>A (p.Asn1060Lys)
NM_015072.5(TTLL5):c.3193A>C (p.Thr1065Pro)
NM_015072.5(TTLL5):c.3193A>G (p.Thr1065Ala) rs1894738201
NM_015072.5(TTLL5):c.319C>G (p.Pro107Ala)
NM_015072.5(TTLL5):c.3200T>C (p.Ile1067Thr) rs1329633330
NM_015072.5(TTLL5):c.3212G>A (p.Ser1071Asn) rs1894738719
NM_015072.5(TTLL5):c.3234C>T (p.Thr1078=) rs762894054
NM_015072.5(TTLL5):c.3238C>T (p.Arg1080Ter)
NM_015072.5(TTLL5):c.3239G>A (p.Arg1080Gln)
NM_015072.5(TTLL5):c.3245T>A (p.Ile1082Asn) rs1894739838
NM_015072.5(TTLL5):c.3246C>T (p.Ile1082=)
NM_015072.5(TTLL5):c.3253C>A (p.Pro1085Thr)
NM_015072.5(TTLL5):c.3297C>T (p.Pro1099=)
NM_015072.5(TTLL5):c.331C>A (p.Arg111Ser) rs761381633
NM_015072.5(TTLL5):c.3326G>A (p.Arg1109Lys)
NM_015072.5(TTLL5):c.3326G>C (p.Arg1109Thr)
NM_015072.5(TTLL5):c.3327-20C>T
NM_015072.5(TTLL5):c.3327-7_3327-3del rs2030226103
NM_015072.5(TTLL5):c.3329del (p.Ser1110fs) rs759929075
NM_015072.5(TTLL5):c.332G>A (p.Arg111His) rs151197710
NM_015072.5(TTLL5):c.3333G>C (p.Leu1111=)
NM_015072.5(TTLL5):c.3339_3340del (p.Gly1115fs) rs1595168879
NM_015072.5(TTLL5):c.333C>T (p.Arg111=)
NM_015072.5(TTLL5):c.3344dup (p.Phe1116fs) rs2139945350
NM_015072.5(TTLL5):c.3374_3382del (p.Asn1125_Tyr1127del) rs779761398
NM_015072.5(TTLL5):c.337C>G (p.Leu113Val) rs2140122580
NM_015072.5(TTLL5):c.338T>C (p.Leu113Pro) rs2140122584
NM_015072.5(TTLL5):c.3393del (p.Val1133fs) rs2030231685
NM_015072.5(TTLL5):c.3394G>A (p.Gly1132Arg)
NM_015072.5(TTLL5):c.3396G>A (p.Gly1132=)
NM_015072.5(TTLL5):c.3401del (p.Val1134fs)
NM_015072.5(TTLL5):c.3409C>T (p.His1137Tyr)
NM_015072.5(TTLL5):c.3410A>C (p.His1137Pro) rs746857132
NM_015072.5(TTLL5):c.3414G>C (p.Lys1138Asn)
NM_015072.5(TTLL5):c.3423C>G (p.Pro1141=) rs2139945572
NM_015072.5(TTLL5):c.342T>G (p.Ser114=)
NM_015072.5(TTLL5):c.3459G>A (p.Gln1153=) rs2139945657
NM_015072.5(TTLL5):c.3474A>C (p.Gln1158His) rs2139945684
NM_015072.5(TTLL5):c.3487C>T (p.Arg1163Trp) rs199613904
NM_015072.5(TTLL5):c.3494_3495delinsAT (p.Leu1165His) rs2030236549
NM_015072.5(TTLL5):c.3496C>G (p.Leu1166Val) rs577379721
NM_015072.5(TTLL5):c.3496C>T (p.Leu1166=)
NM_015072.5(TTLL5):c.349C>G (p.Gln117Glu) rs140479826
NM_015072.5(TTLL5):c.3505_3522del (p.Ser1169_Gln1174del) rs1390638454
NM_015072.5(TTLL5):c.3522+17C>G
NM_015072.5(TTLL5):c.3522+18T>C
NM_015072.5(TTLL5):c.3523-13T>C
NM_015072.5(TTLL5):c.3523-19T>G
NM_015072.5(TTLL5):c.3523-20T>G rs2140023739
NM_015072.5(TTLL5):c.3523-4G>A rs756826932
NM_015072.5(TTLL5):c.3523-4G>T rs756826932
NM_015072.5(TTLL5):c.3523-5del rs762310604
NM_015072.5(TTLL5):c.3523-5dup rs762310604
NM_015072.5(TTLL5):c.3523G>T (p.Ala1175Ser)
NM_015072.5(TTLL5):c.3525A>G (p.Ala1175=)
NM_015072.5(TTLL5):c.3536G>A (p.Ser1179Asn)
NM_015072.5(TTLL5):c.3543A>T (p.Thr1181=) rs148843544
NM_015072.5(TTLL5):c.3548C>G (p.Pro1183Arg)
NM_015072.5(TTLL5):c.3552del (p.Ser1185fs) rs2140023956
NM_015072.5(TTLL5):c.3555C>T (p.Ser1185=)
NM_015072.5(TTLL5):c.355G>A (p.Val119Ile) rs1884797826
NM_015072.5(TTLL5):c.3560T>C (p.Leu1187Ser)
NM_015072.5(TTLL5):c.3564G>T (p.Trp1188Cys)
NM_015072.5(TTLL5):c.3579_3583dup (p.Gly1195fs) rs760158148
NM_015072.5(TTLL5):c.3602C>T (p.Ala1201Val)
NM_015072.5(TTLL5):c.361C>T (p.His121Tyr)
NM_015072.5(TTLL5):c.3631C>G (p.Leu1211Val) rs779153789
NM_015072.5(TTLL5):c.3631C>T (p.Leu1211=)
NM_015072.5(TTLL5):c.365T>G (p.Phe122Cys)
NM_015072.5(TTLL5):c.365_366del (p.Phe122fs) rs2140122597
NM_015072.5(TTLL5):c.3663T>C (p.Ser1221=) rs2140024156
NM_015072.5(TTLL5):c.3667G>A (p.Ala1223Thr) rs10130991
NM_015072.5(TTLL5):c.3667G>T (p.Ala1223Ser) rs10130991
NM_015072.5(TTLL5):c.3688C>T (p.Pro1230Ser)
NM_015072.5(TTLL5):c.3706G>A (p.Val1236Met)
NM_015072.5(TTLL5):c.371+9C>T rs1205402984
NM_015072.5(TTLL5):c.371G>A (p.Arg124Lys)
NM_015072.5(TTLL5):c.372-11T>G
NM_015072.5(TTLL5):c.3720A>G (p.Ala1240=) rs1245336874
NM_015072.5(TTLL5):c.3726C>T (p.Ser1242=)
NM_015072.5(TTLL5):c.3741-12T>A
NM_015072.5(TTLL5):c.3744dup (p.Ser1249fs) rs753057666
NM_015072.5(TTLL5):c.3773T>C (p.Leu1258Pro) rs1249204313
NM_015072.5(TTLL5):c.3778A>G (p.Ser1260Gly) rs770500674
NM_015072.5(TTLL5):c.3780C>A (p.Ser1260Arg)
NM_015072.5(TTLL5):c.3794C>T (p.Ala1265Val)
NM_015072.5(TTLL5):c.3804G>A (p.Val1268=)
NM_015072.5(TTLL5):c.3805C>T (p.Pro1269Ser)
NM_015072.5(TTLL5):c.3806C>T (p.Pro1269Leu)
NM_015072.5(TTLL5):c.3812C>A (p.Thr1271Asn) rs1566652888
NM_015072.5(TTLL5):c.3812C>G (p.Thr1271Ser) rs1566652888
NM_015072.5(TTLL5):c.3822A>G (p.Thr1274=) rs2032954310
NM_015072.5(TTLL5):c.3823+7G>A
NM_015072.5(TTLL5):c.3824-17G>T
NM_015072.5(TTLL5):c.3824-20G>C rs755669701
NM_015072.5(TTLL5):c.3824-2A>G rs1595333668
NM_015072.5(TTLL5):c.3824-3C>T rs2035054337
NM_015072.5(TTLL5):c.3824-7T>G rs2035054244
NM_015072.5(TTLL5):c.3824-8T>C
NM_015072.5(TTLL5):c.3834C>A (p.His1278Gln) rs1398956929
NM_015072.5(TTLL5):c.3841A>T (p.Ile1281Leu) rs1320365250
NM_015072.5(TTLL5):c.399A>G (p.Arg133=)
NM_015072.5(TTLL5):c.401del (p.Leu134fs) rs587777470
NM_015072.5(TTLL5):c.410dup (p.Asn137fs)
NM_015072.5(TTLL5):c.418C>A (p.Arg140=) rs1411713248
NM_015072.5(TTLL5):c.418C>G (p.Arg140Gly) rs1411713248
NM_015072.5(TTLL5):c.419G>A (p.Arg140Gln) rs146900909
NM_015072.5(TTLL5):c.434A>C (p.His145Pro) rs776212314
NM_015072.5(TTLL5):c.454A>G (p.Ile152Val) rs1315241372
NM_015072.5(TTLL5):c.456C>T (p.Ile152=) rs2140136746
NM_015072.5(TTLL5):c.485A>T (p.Glu162Val) rs1026058794
NM_015072.5(TTLL5):c.489C>T (p.Tyr163=)
NM_015072.5(TTLL5):c.490G>T (p.Ala164Ser) rs143151165
NM_015072.5(TTLL5):c.4C>G (p.Pro2Ala) rs745443275
NM_015072.5(TTLL5):c.500G>A (p.Cys167Tyr)
NM_015072.5(TTLL5):c.502+12A>G rs1304877484
NM_015072.5(TTLL5):c.503-13A>G rs1886082268
NM_015072.5(TTLL5):c.503-19C>T rs2140155100
NM_015072.5(TTLL5):c.521G>C (p.Arg174Pro) rs141614130
NM_015072.5(TTLL5):c.521_527del (p.Arg174fs)
NM_015072.5(TTLL5):c.525dup (p.Pro176fs)
NM_015072.5(TTLL5):c.52G>A (p.Asp18Asn)
NM_015072.5(TTLL5):c.535G>A (p.Val179Ile) rs1886084547
NM_015072.5(TTLL5):c.541C>G (p.Pro181Ala) rs1886084675
NM_015072.5(TTLL5):c.561G>A (p.Gly187=) rs1449080948
NM_015072.5(TTLL5):c.561del (p.Arg188fs)
NM_015072.5(TTLL5):c.561dup (p.Arg188fs)
NM_015072.5(TTLL5):c.56AGG[1] (p.Glu20del)
NM_015072.5(TTLL5):c.578T>G (p.Ile193Ser) rs1293580959
NM_015072.5(TTLL5):c.581A>G (p.Asn194Ser) rs1886086138
NM_015072.5(TTLL5):c.585+2_585+11del rs2140155252
NM_015072.5(TTLL5):c.595A>T (p.Ile199Phe) rs760333318
NM_015072.5(TTLL5):c.60G>T (p.Glu20Asp) rs2140074461
NM_015072.5(TTLL5):c.615T>C (p.Ile205=)
NM_015072.5(TTLL5):c.616T>C (p.Leu206=)
NM_015072.5(TTLL5):c.619G>A (p.Val207Ile)
NM_015072.5(TTLL5):c.626G>T (p.Arg209Leu) rs781617968
NM_015072.5(TTLL5):c.630C>A (p.Tyr210Ter) rs745934202
NM_015072.5(TTLL5):c.639C>A (p.Asn213Lys) rs769924591
NM_015072.5(TTLL5):c.645G>T (p.Leu215=)
NM_015072.5(TTLL5):c.649A>G (p.Ile217Val)
NM_015072.5(TTLL5):c.654T>C (p.Asp218=) rs953769070
NM_015072.5(TTLL5):c.655+9T>C rs2140171905
NM_015072.5(TTLL5):c.656-3del rs751439234
NM_015072.5(TTLL5):c.656-3dup rs751439234
NM_015072.5(TTLL5):c.656-5_656-3del rs751439234
NM_015072.5(TTLL5):c.663G>T (p.Lys221Asn)
NM_015072.5(TTLL5):c.669C>T (p.Asp223=)
NM_015072.5(TTLL5):c.670G>C (p.Val224Leu)
NM_015072.5(TTLL5):c.674G>A (p.Arg225His)
NM_015072.5(TTLL5):c.681T>C (p.Tyr227=) rs1886754638
NM_015072.5(TTLL5):c.688G>A (p.Val230Met)
NM_015072.5(TTLL5):c.716A>G (p.Tyr239Cys)
NM_015072.5(TTLL5):c.717T>C (p.Tyr239=)
NM_015072.5(TTLL5):c.720_721del (p.Leu240_Tyr241insTer) rs754950305
NM_015072.5(TTLL5):c.721T>C (p.Tyr241His)
NM_015072.5(TTLL5):c.722A>G (p.Tyr241Cys)
NM_015072.5(TTLL5):c.733T>C (p.Leu245=)
NM_015072.5(TTLL5):c.74+18T>C
NM_015072.5(TTLL5):c.740+11G>A
NM_015072.5(TTLL5):c.740+14T>C
NM_015072.5(TTLL5):c.741-10C>T
NM_015072.5(TTLL5):c.741-19C>G
NM_015072.5(TTLL5):c.741-1G>A rs1887576038
NM_015072.5(TTLL5):c.741-4T>C rs2140197676
NM_015072.5(TTLL5):c.741-5A>G
NM_015072.5(TTLL5):c.75-10G>A
NM_015072.5(TTLL5):c.75-12_75-11del
NM_015072.5(TTLL5):c.75-2A>G rs1314926139
NM_015072.5(TTLL5):c.753G>A (p.Val251=) rs2140197703
NM_015072.5(TTLL5):c.756A>G (p.Arg252=)
NM_015072.5(TTLL5):c.763C>G (p.Gln255Glu) rs2140197725
NM_015072.5(TTLL5):c.772A>C (p.Lys258Gln) rs1887576900
NM_015072.5(TTLL5):c.77A>G (p.Asp26Gly)
NM_015072.5(TTLL5):c.789_793del (p.Gln263fs)
NM_015072.5(TTLL5):c.831A>G (p.Gly277=)
NM_015072.5(TTLL5):c.837C>T (p.Tyr279=)
NM_015072.5(TTLL5):c.842+1G>A rs1887579263
NM_015072.5(TTLL5):c.842+4C>G rs1018754407
NM_015072.5(TTLL5):c.843-14_843-12del rs1478882119
NM_015072.5(TTLL5):c.843-7G>A rs2140202483
NM_015072.5(TTLL5):c.856G>A (p.Glu286Lys) rs1202712728
NM_015072.5(TTLL5):c.863A>T (p.Glu288Val) rs2140202527
NM_015072.5(TTLL5):c.865G>A (p.Asp289Asn) rs754224109
NM_015072.5(TTLL5):c.867T>C (p.Asp289=)
NM_015072.5(TTLL5):c.873A>C (p.Gly291=) rs2140202544
NM_015072.5(TTLL5):c.885C>A (p.Ser295Arg) rs1887726658
NM_015072.5(TTLL5):c.895A>G (p.Met299Val)
NM_015072.5(TTLL5):c.909G>A (p.Leu303=) rs2140202584
NM_015072.5(TTLL5):c.922A>C (p.Arg308=)
NM_015072.5(TTLL5):c.935-10T>A rs772154589
NM_015072.5(TTLL5):c.935-10T>C
NM_015072.5(TTLL5):c.938T>G (p.Leu313Trp)
NM_015072.5(TTLL5):c.951A>G (p.Val317=)
NM_015072.5(TTLL5):c.957C>A (p.Asp319Glu) rs765689042
NM_015072.5(TTLL5):c.957C>T (p.Asp319=)
NM_015072.5(TTLL5):c.95G>A (p.Trp32Ter)
NM_015072.5(TTLL5):c.960G>A (p.Leu320=) rs775691366
NM_015072.5(TTLL5):c.960G>C (p.Leu320=)
NM_015072.5(TTLL5):c.968_973del (p.Lys323_Thr324del) rs926135196
NM_015072.5(TTLL5):c.976del (p.Ile326fs) rs1887780037
NM_015072.5(TTLL5):c.987A>T (p.Glu329Asp) rs1555384338
NM_015072.5(TTLL5):c.989T>A (p.Leu330Gln) rs765872484
NM_015072.5(TTLL5):c.992C>T (p.Ala331Val)
NM_015072.5(TTLL5):c.993T>C (p.Ala331=)
NM_015072.5(TTLL5):c.9C>G (p.Ile3Met) rs755802095
NM_015072.5(TTLL5):c.9C>T (p.Ile3=) rs755802095

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