ClinVar Miner

List of variants in gene TH studied for Autosomal recessive DOPA responsive dystonia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1039
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.695+99G>A rs7925924 0.91244
NM_000360.4(TH):c.696-126C>G rs7942881 0.91226
NM_000360.4(TH):c.1105-78A>G rs6578990 0.90803
NM_000360.4(TH):c.91-54A>G rs7925375 0.68900
NM_000360.4(TH):c.577-22C>T rs4074905 0.62210
NC_000011.10:g.2172367C>T rs10770140 0.58545
NC_000011.10:g.2172610A>G rs10770141 0.56453
NM_000360.4(TH):c.1334+127T>C rs2070762 0.42406
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_000360.4(TH):c.313-88G>A rs4930043 0.22682
NM_000360.4(TH):c.312+289G>C rs7482510 0.17720
NM_000360.4(TH):c.210T>C (p.Ala70=) rs7950050 0.03941
NM_000360.4(TH):c.186G>A (p.Ser62=) rs34510659 0.02696
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_000360.4(TH):c.645-74A>T rs73403741 0.01330
NM_000360.4(TH):c.487+3G>A rs11042950 0.00795
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_000360.4(TH):c.579C>T (p.Gly193=) rs147852210 0.00547
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_000360.4(TH):c.1105-14C>T rs200496790 0.00101
NM_000360.4(TH):c.-7C>T rs199925956 0.00098
NM_000360.4(TH):c.695+13T>C rs373030101 0.00089
NM_000360.4(TH):c.90+907A>G rs1262784684 0.00060
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546 0.00056
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766 0.00054
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316 0.00042
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543 0.00029
NM_000360.4(TH):c.91-891G>A rs371277838 0.00029
NM_000360.4(TH):c.67G>A (p.Ala23Thr) rs201081519 0.00028
NM_000360.4(TH):c.627C>G (p.Ile209Met) rs202149985 0.00027
NM_000360.4(TH):c.594G>T (p.Val198=) rs544661832 0.00026
NM_000360.4(TH):c.1334+3G>C rs371566928 0.00024
NM_000360.4(TH):c.1349G>A (p.Arg450His) rs138291013 0.00023
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536 0.00023
NM_000360.4(TH):c.1200+11C>T rs372851419 0.00022
NM_000360.4(TH):c.12C>T (p.Pro4=) rs147131010 0.00022
NM_000360.4(TH):c.1423G>A (p.Val475Met) rs147585774 0.00019
NM_000360.4(TH):c.1047+16G>A rs372706117 0.00017
NM_000360.4(TH):c.391T>G (p.Phe131Val) rs200536568 0.00017
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_000360.4(TH):c.-18G>A rs370306636 0.00016
NM_000360.4(TH):c.576+13C>T rs369163325 0.00016
NM_000360.4(TH):c.585G>A (p.Ser195=) rs376615793 0.00016
NM_000360.4(TH):c.372G>A (p.Gly124=) rs773806238 0.00014
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000360.4(TH):c.842-14G>A rs560689972 0.00014
NM_000360.4(TH):c.*9C>T rs762091461 0.00013
NM_000360.4(TH):c.108G>A (p.Gly36=) rs372002058 0.00012
NM_000360.4(TH):c.1105-12G>C rs367966462 0.00012
NM_000360.4(TH):c.91-868C>T rs148235227 0.00012
NM_000360.4(TH):c.91-896G>A rs376736869 0.00012
NM_000360.4(TH):c.1383G>A (p.Pro461=) rs552808212 0.00011
NM_000360.4(TH):c.696-7C>T rs780074743 0.00011
NM_000360.4(TH):c.91-828C>T rs764689284 0.00011
NM_000360.4(TH):c.126C>A (p.Ile42=) rs755664117 0.00010
NM_000360.4(TH):c.127G>A (p.Glu43Lys) rs772029518 0.00010
NM_000360.4(TH):c.1389G>A (p.Thr463=) rs370029424 0.00010
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564 0.00010
NM_000360.4(TH):c.576G>A (p.Pro192=) rs201809787 0.00010
NM_000360.4(TH):c.1358G>A (p.Arg453His) rs759599321 0.00009
NM_000360.4(TH):c.51C>T (p.Ala17=) rs199645400 0.00009
NM_000360.4(TH):c.662G>A (p.Arg221His) rs150559011 0.00009
NM_000360.4(TH):c.842-17C>T rs991661688 0.00009
NM_000360.4(TH):c.90G>A (p.Met30Ile) rs147416823 0.00009
NM_000360.4(TH):c.1475C>T (p.Ala492Val) rs201219944 0.00008
NM_000360.4(TH):c.576+6_576+14del rs775531779 0.00008
NM_000360.4(TH):c.685A>T (p.Ile229Phe) rs778613708 0.00008
NM_000360.4(TH):c.1024C>T (p.Arg342Cys) rs555810288 0.00007
NM_000360.4(TH):c.1476G>A (p.Ala492=) rs146945950 0.00007
NM_000360.4(TH):c.167C>T (p.Ala56Val) rs745974715 0.00007
NM_000360.4(TH):c.23C>T (p.Thr8Met) rs373964946 0.00007
NM_000360.4(TH):c.240C>T (p.Ala80=) rs371658705 0.00007
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000360.4(TH):c.645C>T (p.His215=) rs768037080 0.00007
NM_000360.4(TH):c.*54C>T rs1008333072 0.00006
NM_000360.4(TH):c.104T>C (p.Ile35Thr) rs747420332 0.00006
NM_000360.4(TH):c.1228C>A (p.Arg410=) rs575326605 0.00006
NM_000360.4(TH):c.1236C>T (p.Phe412=) rs367624648 0.00006
NM_000360.4(TH):c.13G>A (p.Asp5Asn) rs777016570 0.00006
NM_000360.4(TH):c.263C>T (p.Pro88Leu) rs150260759 0.00006
NM_000360.4(TH):c.362C>T (p.Pro121Leu) rs760017478 0.00006
NM_000360.4(TH):c.394G>A (p.Val132Met) rs751702426 0.00006
NM_000360.4(TH):c.487+8G>A rs749511812 0.00006
NM_000360.4(TH):c.550G>A (p.Asp184Asn) rs139807727 0.00006
NM_000360.4(TH):c.644+19C>T rs769248793 0.00006
NM_000360.4(TH):c.674C>A (p.Thr225Asn) rs141907589 0.00006
NM_000360.4(TH):c.91-897C>T rs762373165 0.00006
NM_000360.4(TH):c.1105-13G>A rs535333944 0.00005
NM_000360.4(TH):c.110G>A (p.Arg37His) rs368122376 0.00005
NM_000360.4(TH):c.1277C>T (p.Thr426Met) rs201330304 0.00005
NM_000360.4(TH):c.192C>T (p.Pro64=) rs767080132 0.00005
NM_000360.4(TH):c.19A>C (p.Thr7Pro) rs768150949 0.00005
NM_000360.4(TH):c.297T>C (p.Ala99=) rs1002356459 0.00005
NM_000360.4(TH):c.398G>A (p.Arg133His) rs376881948 0.00005
NM_000360.4(TH):c.549C>T (p.Phe183=) rs756278325 0.00005
NM_000360.4(TH):c.678C>T (p.Ala226=) rs139619260 0.00005
NM_000360.4(TH):c.71A>G (p.Lys24Arg) rs768206231 0.00005
NM_000360.4(TH):c.90+23G>A rs551036568 0.00005
NM_000360.4(TH):c.91-867G>A rs1799833 0.00005
NM_000360.4(TH):c.1296C>T (p.Phe432=) rs760210103 0.00004
NM_000360.4(TH):c.1317C>T (p.Asp439=) rs375440221 0.00004
NM_000360.4(TH):c.132C>T (p.Asp44=) rs767310984 0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.1470C>G (p.Ala490=) rs777477661 0.00004
NM_000360.4(TH):c.153G>A (p.Ala51=) rs149580405 0.00004
NM_000360.4(TH):c.24G>A (p.Thr8=) rs529205525 0.00004
NM_000360.4(TH):c.264G>A (p.Pro88=) rs113140700 0.00004
NM_000360.4(TH):c.304G>T (p.Val102Leu) rs372077622 0.00004
NM_000360.4(TH):c.312+17C>T rs368788352 0.00004
NM_000360.4(TH):c.313-9C>T rs538345855 0.00004
NM_000360.4(TH):c.599G>A (p.Arg200His) rs201224335 0.00004
NM_000360.4(TH):c.653C>T (p.Pro218Leu) rs377729019 0.00004
NM_000360.4(TH):c.758A>T (p.Glu253Val) rs369397659 0.00004
NM_000360.4(TH):c.794G>A (p.Arg265Gln) rs199961079 0.00004
NM_000360.4(TH):c.90+30G>A rs200408490 0.00004
NM_000360.4(TH):c.90+7G>T rs746965239 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000360.4(TH):c.931A>G (p.Thr311Ala) rs1016513333 0.00004
NM_000360.4(TH):c.950C>G (p.Ala317Gly) rs370710158 0.00004
NM_000360.4(TH):c.978-3C>A rs754735292 0.00004
NM_000360.4(TH):c.*8G>C rs761910662 0.00003
NM_000360.4(TH):c.1102A>T (p.Thr368Ser) rs537643329 0.00003
NM_000360.4(TH):c.1105-4G>A rs772712441 0.00003
NM_000360.4(TH):c.1237G>A (p.Asp413Asn) rs201996748 0.00003
NM_000360.4(TH):c.1254C>T (p.Ala418=) rs374772644 0.00003
NM_000360.4(TH):c.1297G>A (p.Val433Met) rs772641972 0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000360.4(TH):c.171C>T (p.Ala57=) rs771152796 0.00003
NM_000360.4(TH):c.225G>A (p.Glu75=) rs558597025 0.00003
NM_000360.4(TH):c.286C>T (p.Leu96=) rs74742646 0.00003
NM_000360.4(TH):c.309T>C (p.Phe103=) rs754746512 0.00003
NM_000360.4(TH):c.365G>A (p.Arg122Gln) rs201093528 0.00003
NM_000360.4(TH):c.459G>A (p.Glu153=) rs373986982 0.00003
NM_000360.4(TH):c.649G>A (p.Asp217Asn) rs371488205 0.00003
NM_000360.4(TH):c.66C>T (p.Asp22=) rs377073512 0.00003
NM_000360.4(TH):c.695+14G>A rs369545292 0.00003
NM_000360.4(TH):c.714G>A (p.Thr238=) rs747783772 0.00003
NM_000360.4(TH):c.768T>C (p.Ala256=) rs1417486240 0.00003
NM_000360.4(TH):c.779G>T (p.Arg260Leu) rs372142970 0.00003
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_000360.4(TH):c.90+29C>T rs761081184 0.00003
NM_000360.4(TH):c.91-15C>T rs775705010 0.00003
NM_000360.4(TH):c.984C>T (p.Cys328=) rs371340450 0.00003
NM_000360.4(TH):c.1047+10G>A rs747505017 0.00002
NM_000360.4(TH):c.1047+1G>C rs1340482195 0.00002
NM_000360.4(TH):c.1047+8G>A rs1399106612 0.00002
NM_000360.4(TH):c.1050C>T (p.Asp350=) rs1421783815 0.00002
NM_000360.4(TH):c.1061C>T (p.Ala354Val) rs763039181 0.00002
NM_000360.4(TH):c.1084G>A (p.Glu362Lys) rs776917257 0.00002
NM_000360.4(TH):c.1105-7C>T rs374133473 0.00002
NM_000360.4(TH):c.1189G>A (p.Gly397Arg) rs1264884607 0.00002
NM_000360.4(TH):c.1229G>A (p.Arg410Gln) rs367874223 0.00002
NM_000360.4(TH):c.1320C>T (p.Ala440=) rs1301464480 0.00002
NM_000360.4(TH):c.1335-9C>G rs910277713 0.00002
NM_000360.4(TH):c.1348C>T (p.Arg450Cys) rs375084700 0.00002
NM_000360.4(TH):c.1377C>T (p.Phe459=) rs575305786 0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299 0.00002
NM_000360.4(TH):c.1422C>T (p.Ala474=) rs375735482 0.00002
NM_000360.4(TH):c.216C>T (p.Ala72=) rs773288225 0.00002
NM_000360.4(TH):c.220G>C (p.Glu74Gln) rs748493792 0.00002
NM_000360.4(TH):c.288G>C (p.Leu96=) rs151082354 0.00002
NM_000360.4(TH):c.292C>T (p.Arg98Ter) rs1057519220 0.00002
NM_000360.4(TH):c.313-15C>T rs1298110996 0.00002
NM_000360.4(TH):c.351C>T (p.Pro117=) rs764429855 0.00002
NM_000360.4(TH):c.360G>A (p.Arg120=) rs761868828 0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752 0.00002
NM_000360.4(TH):c.386A>C (p.Glu129Ala) rs745829277 0.00002
NM_000360.4(TH):c.414A>C (p.Arg138=) rs528105731 0.00002
NM_000360.4(TH):c.426C>T (p.Ala142=) rs200598308 0.00002
NM_000360.4(TH):c.534C>T (p.His178=) rs965288727 0.00002
NM_000360.4(TH):c.576+11C>T rs770003580 0.00002
NM_000360.4(TH):c.576+12G>A rs550221603 0.00002
NM_000360.4(TH):c.600C>T (p.Arg200=) rs748661920 0.00002
NM_000360.4(TH):c.644+1G>A rs1266265578 0.00002
NM_000360.4(TH):c.729C>T (p.Tyr243=) rs878855308 0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257 0.00002
NM_000360.4(TH):c.793C>G (p.Arg265Gly) rs1203763637 0.00002
NM_000360.4(TH):c.900G>A (p.Leu300=) rs971671588 0.00002
NM_000360.4(TH):c.977+10C>T rs370829131 0.00002
NM_000360.4(TH):c.978-10C>T rs752258129 0.00002
NM_000360.4(TH):c.978-7C>T rs778560407 0.00002
NM_000360.4(TH):c.98G>A (p.Arg33Gln) rs996766545 0.00002
NM_199292.3(TH):c.-71C>T rs549435434 0.00002
NM_000360.4(TH):c.1038G>C (p.Gln346His) rs770006796 0.00001
NM_000360.4(TH):c.1047+7C>T rs771406751 0.00001
NM_000360.4(TH):c.1048-7T>C rs1846081680 0.00001
NM_000360.4(TH):c.1062G>A (p.Ala354=) rs775488051 0.00001
NM_000360.4(TH):c.1076C>T (p.Ser359Leu) rs765379626 0.00001
NM_000360.4(TH):c.1077G>A (p.Ser359=) rs759797905 0.00001
NM_000360.4(TH):c.1103C>T (p.Thr368Met) rs1057520384 0.00001
NM_000360.4(TH):c.1104+11C>A rs1368988481 0.00001
NM_000360.4(TH):c.1128C>T (p.Phe376=) rs769329337 0.00001
NM_000360.4(TH):c.1141C>A (p.Gln381Lys) rs121917762 0.00001
NM_000360.4(TH):c.1146C>T (p.Asn382=) rs202090361 0.00001
NM_000360.4(TH):c.1149G>A (p.Gly383=) rs758398302 0.00001
NM_000360.4(TH):c.1151A>G (p.Glu384Gly) rs540601354 0.00001
NM_000360.4(TH):c.1156A>G (p.Lys386Glu) rs1846071121 0.00001
NM_000360.4(TH):c.1191G>A (p.Gly397=) rs545937773 0.00001
NM_000360.4(TH):c.1197C>T (p.Leu399=) rs762263415 0.00001
NM_000360.4(TH):c.1200+5G>C rs774895306 0.00001
NM_000360.4(TH):c.1200+7G>A rs1463979447 0.00001
NM_000360.4(TH):c.1201-16A>G rs201228560 0.00001
NM_000360.4(TH):c.1209G>A (p.Leu403=) rs1255096793 0.00001
NM_000360.4(TH):c.1233C>T (p.Ala411=) rs768695630 0.00001
NM_000360.4(TH):c.1250C>T (p.Ala417Val) rs756236294 0.00001
NM_000360.4(TH):c.1251G>A (p.Ala417=) rs774769978 0.00001
NM_000360.4(TH):c.1257G>A (p.Val419=) rs1299170832 0.00001
NM_000360.4(TH):c.1290C>T (p.Val430=) rs367962981 0.00001
NM_000360.4(TH):c.1300T>C (p.Ser434Pro) rs1367289835 0.00001
NM_000360.4(TH):c.1301C>G (p.Ser434Cys) rs767211543 0.00001
NM_000360.4(TH):c.1332C>T (p.Leu444=) rs534572182 0.00001
NM_000360.4(TH):c.1334+9G>A rs758713265 0.00001
NM_000360.4(TH):c.1335-14G>A rs754310603 0.00001
NM_000360.4(TH):c.1361C>A (p.Pro454His) rs776457245 0.00001
NM_000360.4(TH):c.1393G>A (p.Ala465Thr) rs1846021958 0.00001
NM_000360.4(TH):c.1394C>T (p.Ala465Val) rs1846021859 0.00001
NM_000360.4(TH):c.1399G>T (p.Asp467Tyr) rs200751977 0.00001
NM_000360.4(TH):c.1426C>T (p.Arg476Trp) rs201616746 0.00001
NM_000360.4(TH):c.1427G>A (p.Arg476Gln) rs774575772 0.00001
NM_000360.4(TH):c.1429C>T (p.Arg477Cys) rs78779683 0.00001
NM_000360.4(TH):c.1430G>A (p.Arg477His) rs78426052 0.00001
NM_000360.4(TH):c.1464C>A (p.Thr488=) rs1245346478 0.00001
NM_000360.4(TH):c.1490G>A (p.Gly497Asp) rs753632777 0.00001
NM_000360.4(TH):c.150G>A (p.Glu50=) rs763790386 0.00001
NM_000360.4(TH):c.155C>T (p.Ala52Val) rs1338337952 0.00001
NM_000360.4(TH):c.15C>T (p.Asp5=) rs562609508 0.00001
NM_000360.4(TH):c.168G>A (p.Ala56=) rs776640286 0.00001
NM_000360.4(TH):c.185C>T (p.Ser62Leu) rs574633942 0.00001
NM_000360.4(TH):c.193G>A (p.Gly65Arg) rs780478399 0.00001
NM_000360.4(TH):c.195G>A (p.Gly65=) rs145628270 0.00001
NM_000360.4(TH):c.204G>A (p.Leu68=) rs1378296581 0.00001
NM_000360.4(TH):c.244C>G (p.Leu82Val) rs1221965870 0.00001
NM_000360.4(TH):c.285G>A (p.Ala95=) rs749856378 0.00001
NM_000360.4(TH):c.2T>C (p.Met1Thr) rs201932766 0.00001
NM_000360.4(TH):c.303G>A (p.Lys101=) rs752339418 0.00001
NM_000360.4(TH):c.30G>A (p.Gln10=) rs980737617 0.00001
NM_000360.4(TH):c.315G>A (p.Thr105=) rs778507389 0.00001
NM_000360.4(TH):c.331C>T (p.His111Tyr) rs911394543 0.00001
NM_000360.4(TH):c.340G>A (p.Glu114Lys) rs759435668 0.00001
NM_000360.4(TH):c.378C>T (p.Pro126=) rs779782825 0.00001
NM_000360.4(TH):c.38G>C (p.Gly13Ala) rs1225376055 0.00001
NM_000360.4(TH):c.392T>C (p.Phe131Ser) rs958536401 0.00001
NM_000360.4(TH):c.393C>T (p.Phe131=) rs1239693053 0.00001
NM_000360.4(TH):c.402C>T (p.Leu134=) rs759914498 0.00001
NM_000360.4(TH):c.427G>A (p.Ala143Thr) rs201911992 0.00001
NM_000360.4(TH):c.434T>A (p.Leu145His) rs758527628 0.00001
NM_000360.4(TH):c.43C>T (p.Arg15Cys) rs573547573 0.00001
NM_000360.4(TH):c.445C>T (p.Arg149Cys) rs779228923 0.00001
NM_000360.4(TH):c.447C>A (p.Arg149=) rs1288293766 0.00001
NM_000360.4(TH):c.457G>A (p.Glu153Lys) rs754247629 0.00001
NM_000360.4(TH):c.458A>G (p.Glu153Gly) rs766666741 0.00001
NM_000360.4(TH):c.462C>T (p.Asp154=) rs76831425 0.00001
NM_000360.4(TH):c.474C>T (p.Pro158=) rs531554933 0.00001
NM_000360.4(TH):c.477G>A (p.Ala159=) rs1217513263 0.00001
NM_000360.4(TH):c.487+14C>G rs1298714018 0.00001
NM_000360.4(TH):c.517C>A (p.Leu173Met) rs1468608879 0.00001
NM_000360.4(TH):c.541A>T (p.Thr181Ser) rs774561953 0.00001
NM_000360.4(TH):c.558C>T (p.Asp186=) rs781341540 0.00001
NM_000360.4(TH):c.562G>C (p.Asp188His) rs757849221 0.00001
NM_000360.4(TH):c.565T>G (p.Leu189Val) rs751996815 0.00001
NM_000360.4(TH):c.574C>T (p.Pro192Ser) rs753359396 0.00001
NM_000360.4(TH):c.576+10G>A rs775488025 0.00001
NM_000360.4(TH):c.576+3G>A rs761872336 0.00001
NM_000360.4(TH):c.582C>A (p.Phe194Leu) rs555133070 0.00001
NM_000360.4(TH):c.584C>T (p.Ser195Leu) rs372409517 0.00001
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171 0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys) rs1021029193 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000360.4(TH):c.636G>A (p.Gln212=) rs752607225 0.00001
NM_000360.4(TH):c.644+10C>T rs760886341 0.00001
NM_000360.4(TH):c.644+20G>A rs745379902 0.00001
NM_000360.4(TH):c.644+8G>A rs776723483 0.00001
NM_000360.4(TH):c.644+8G>C rs776723483 0.00001
NM_000360.4(TH):c.645-18C>T rs762094071 0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser) rs762304556 0.00001
NM_000360.4(TH):c.648C>T (p.Gly216=) rs774810612 0.00001
NM_000360.4(TH):c.675C>T (p.Thr225=) rs1437906953 0.00001
NM_000360.4(TH):c.676G>A (p.Ala226Thr) rs549188961 0.00001
NM_000360.4(TH):c.695+11C>T rs993765578 0.00001
NM_000360.4(TH):c.696-5C>T rs755960694 0.00001
NM_000360.4(TH):c.723C>A (p.Gly241=) rs752953358 0.00001
NM_000360.4(TH):c.733A>C (p.Thr245Pro) rs28934581 0.00001
NM_000360.4(TH):c.738C>T (p.His246=) rs761504134 0.00001
NM_000360.4(TH):c.739G>C (p.Ala247Pro) rs373283527 0.00001
NM_000360.4(TH):c.749A>T (p.Glu250Val) rs878855309 0.00001
NM_000360.4(TH):c.769T>C (p.Leu257=) rs138787428 0.00001
NM_000360.4(TH):c.773T>C (p.Leu258Pro) rs1846111747 0.00001
NM_000360.4(TH):c.786C>T (p.Ser262=) rs753109309 0.00001
NM_000360.4(TH):c.823G>A (p.Val275Ile) rs770941754 0.00001
NM_000360.4(TH):c.828C>G (p.Ser276=) rs747123916 0.00001
NM_000360.4(TH):c.841+12C>T rs368489295 0.00001
NM_000360.4(TH):c.841+15G>C rs1289211521 0.00001
NM_000360.4(TH):c.842-6T>C rs1363004689 0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764 0.00001
NM_000360.4(TH):c.849G>A (p.Thr283=) rs892319076 0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser) rs1288483479 0.00001
NM_000360.4(TH):c.873C>T (p.Ala291=) rs1176834491 0.00001
NM_000360.4(TH):c.885C>T (p.Ser295=) rs772023928 0.00001
NM_000360.4(TH):c.894C>T (p.Asp298=) rs1003880422 0.00001
NM_000360.4(TH):c.90+22C>G rs753296112 0.00001
NM_000360.4(TH):c.90+27G>A rs1343146453 0.00001
NM_000360.4(TH):c.91-17G>A rs1198598913 0.00001
NM_000360.4(TH):c.91-800T>C rs1234803833 0.00001
NM_000360.4(TH):c.91-821A>C rs1338821407 0.00001
NM_000360.4(TH):c.91-853C>T rs756331878 0.00001
NM_000360.4(TH):c.91-892C>T rs775961364 0.00001
NM_000360.4(TH):c.954C>T (p.Ser318=) rs1462093961 0.00001
NM_000360.4(TH):c.96G>A (p.Pro32=) rs202167640 0.00001
NM_000360.4(TH):c.977+9G>C rs752199740 0.00001
NM_000360.4(TH):c.978-6G>T rs75487597 0.00001
NM_000360.4(TH):c.981C>T (p.Asp327=) rs947297093 0.00001
NM_000360.4(TH):c.990C>T (p.His330=) rs760420202 0.00001
NM_000360.4(TH):c.996G>A (p.Leu332=) rs750185526 0.00001
NM_000360.4(TH):c.996G>T (p.Leu332=) rs750185526 0.00001
NC_000011.10:g.(?_2166470)_(2168675_?)del
NC_000011.9:g.(?_2185463)_(2187013_?)del
NC_000011.9:g.(?_2186110)_(2187232_?)del
NC_000011.9:g.(?_2186878)_(2193016_?)del
NC_000011.9:g.(?_2187222)_(2188272_?)del
NC_000011.9:g.(?_2187460)_(2191953_?)del
NC_000011.9:g.(?_2188266)_(2189719_?)del
NC_000011.9:g.(?_2191910)_(2193087_?)del
NM_000360.4(TH):c.*102C>A rs1846011369
NM_000360.4(TH):c.*109G>A rs886048113
NM_000360.4(TH):c.*135C>A rs1347143870
NM_000360.4(TH):c.*52C>T rs570989291
NM_000360.4(TH):c.*9C>A rs762091461
NM_000360.4(TH):c.1002del (p.His335fs) rs2133692304
NM_000360.4(TH):c.1008G>A (p.Val336=) rs1450148544
NM_000360.4(TH):c.1010C>T (p.Pro337Leu) rs2133692289
NM_000360.4(TH):c.1011C>T (p.Pro337=)
NM_000360.4(TH):c.1025G>T (p.Arg342Leu) rs768713710
NM_000360.4(TH):c.1029C>T (p.Thr343=) rs1590166863
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
NM_000360.4(TH):c.1032C>T (p.Phe344=) rs763198914
NM_000360.4(TH):c.1035_1045del (p.Gln346fs) rs1590166832
NM_000360.4(TH):c.1036C>T (p.Gln346Ter)
NM_000360.4(TH):c.1041C>T (p.Phe347=) rs1318529339
NM_000360.4(TH):c.1044G>A (p.Ser348=)
NM_000360.4(TH):c.1044G>T (p.Ser348=)
NM_000360.4(TH):c.1047+13C>A
NM_000360.4(TH):c.1047+15C>T
NM_000360.4(TH):c.1047+17G>A
NM_000360.4(TH):c.1047+1G>T
NM_000360.4(TH):c.1047+3A>G rs1564917483
NM_000360.4(TH):c.1047G>A (p.Gln349=)
NM_000360.4(TH):c.1048-110A>C rs4072823
NM_000360.4(TH):c.1048-13C>A
NM_000360.4(TH):c.1048-13C>T
NM_000360.4(TH):c.1048-16C>A
NM_000360.4(TH):c.1048-20T>C
NM_000360.4(TH):c.1048-20_1048-14dup
NM_000360.4(TH):c.1048-2A>G rs2133691221
NM_000360.4(TH):c.1048-4A>G rs2133691226
NM_000360.4(TH):c.1048-5C>T
NM_000360.4(TH):c.1048-8C>A rs2133691242
NM_000360.4(TH):c.1052T>C (p.Ile351Thr) rs1554922725
NM_000360.4(TH):c.1057C>T (p.Leu353=)
NM_000360.4(TH):c.1062G>T (p.Ala354=) rs775488051
NM_000360.4(TH):c.1066dup (p.Leu356fs)
NM_000360.4(TH):c.1068G>A (p.Leu356=)
NM_000360.4(TH):c.1068G>T (p.Leu356=)
NM_000360.4(TH):c.1069G>A (p.Gly357Arg) rs886048114
NM_000360.4(TH):c.1071G>A (p.Gly357=)
NM_000360.4(TH):c.1071G>C (p.Gly357=) rs900683141
NM_000360.4(TH):c.1072G>A (p.Ala358Thr)
NM_000360.4(TH):c.1073C>G (p.Ala358Gly) rs1564917127
NM_000360.4(TH):c.1077G>C (p.Ser359=) rs759797905
NM_000360.4(TH):c.1077G>T (p.Ser359=)
NM_000360.4(TH):c.107G>T (p.Gly36Val)
NM_000360.4(TH):c.1086A>C (p.Glu362Asp) rs1846080018
NM_000360.4(TH):c.108G>T (p.Gly36=) rs372002058
NM_000360.4(TH):c.1092G>A (p.Glu364=) rs2133691065
NM_000360.4(TH):c.1096C>T (p.Leu366=)
NM_000360.4(TH):c.109C>T (p.Arg37Cys)
NM_000360.4(TH):c.1101C>A (p.Ser367=) rs2133691038
NM_000360.4(TH):c.1104+10C>A
NM_000360.4(TH):c.1104+11C>G
NM_000360.4(TH):c.1104+15C>T
NM_000360.4(TH):c.1104+19G>T
NM_000360.4(TH):c.1104+1G>A rs1057516819
NM_000360.4(TH):c.1104+3G>A
NM_000360.4(TH):c.1104+4G>A
NM_000360.4(TH):c.1104+4G>T rs747560095
NM_000360.4(TH):c.1104+6T>C
NM_000360.4(TH):c.1104+9A>T rs1590166246
NM_000360.4(TH):c.1105-11C>G
NM_000360.4(TH):c.1105-14C>G
NM_000360.4(TH):c.1105-17G>T
NM_000360.4(TH):c.1105-1G>A
NM_000360.4(TH):c.1105-1G>T rs2133690469
NM_000360.4(TH):c.1105-24T>A rs587776767
NM_000360.4(TH):c.1105-5C>G rs535794692
NM_000360.4(TH):c.1105-5C>T rs535794692
NM_000360.4(TH):c.1105-6C>T
NM_000360.4(TH):c.1105-8C>T
NM_000360.4(TH):c.1116C>T (p.Phe372=)
NM_000360.4(TH):c.1118C>T (p.Thr373Met) rs868563700
NM_000360.4(TH):c.1119G>A (p.Thr373=) rs143405115
NM_000360.4(TH):c.1119G>C (p.Thr373=) rs143405115
NM_000360.4(TH):c.111C>T (p.Arg37=) rs2133700128
NM_000360.4(TH):c.1121T>C (p.Val374Ala) rs1846072496
NM_000360.4(TH):c.1122_1123delinsTT (p.Glu375Ter) rs2133690417
NM_000360.4(TH):c.1125del (p.Glu375fs) rs2133690407
NM_000360.4(TH):c.1129G>A (p.Gly377Arg) rs745551241
NM_000360.4(TH):c.1131G>A (p.Gly377=)
NM_000360.4(TH):c.1138A>T (p.Lys380Ter) rs2133690361
NM_000360.4(TH):c.1141C>T (p.Gln381Ter)
NM_000360.4(TH):c.1143G>T (p.Gln381His)
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.1149G>C (p.Gly383=) rs758398302
NM_000360.4(TH):c.1152G>A (p.Glu384=)
NM_000360.4(TH):c.1155G>A (p.Val385=)
NM_000360.4(TH):c.115C>G (p.Gln39Glu) rs886048115
NM_000360.4(TH):c.1162T>C (p.Tyr388His) rs1846070989
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1170C>T (p.Ala390=) rs199839852
NM_000360.4(TH):c.1171G>A (p.Gly391Arg) rs1243080287
NM_000360.4(TH):c.1171G>C (p.Gly391Arg) rs1243080287
NM_000360.4(TH):c.1174C>T (p.Leu392=) rs2133690244
NM_000360.4(TH):c.1176_1180del (p.Ser394fs) rs1554922593
NM_000360.4(TH):c.1182C>A (p.Ser394=)
NM_000360.4(TH):c.1182C>G (p.Ser394=) rs1590165799
NM_000360.4(TH):c.1186T>C (p.Tyr396His)
NM_000360.4(TH):c.1188C>T (p.Tyr396=) rs375428556
NM_000360.4(TH):c.1189G>C (p.Gly397Arg)
NM_000360.4(TH):c.1194G>A (p.Glu398=)
NM_000360.4(TH):c.11C>T (p.Pro4Leu)
NM_000360.4(TH):c.1200+2T>C rs2133690169
NM_000360.4(TH):c.1200+5G>A
NM_000360.4(TH):c.1200+7G>T rs1463979447
NM_000360.4(TH):c.1200+8T>A rs371162830
NM_000360.4(TH):c.1200+8T>C rs371162830
NM_000360.4(TH):c.1200+9C>G rs11564717
NM_000360.4(TH):c.1201-10C>A rs779826328
NM_000360.4(TH):c.1201-10C>G rs779826328
NM_000360.4(TH):c.1201-10C>T rs779826328
NM_000360.4(TH):c.1201-1G>A rs2133689319
NM_000360.4(TH):c.1201-2_1201-1delinsCC rs2133689324
NM_000360.4(TH):c.1201-4C>A
NM_000360.4(TH):c.1201-4C>G
NM_000360.4(TH):c.1201-8C>T rs751808349
NM_000360.4(TH):c.1201-8_1201-6del rs2133689342
NM_000360.4(TH):c.1203C>T (p.His401=) rs764678799
NM_000360.4(TH):c.1209G>C (p.Leu403=)
NM_000360.4(TH):c.120C>A (p.Ser40Arg) rs766048900
NM_000360.4(TH):c.120C>T (p.Ser40=) rs766048900
NM_000360.4(TH):c.1210_1213del (p.Ser404fs) rs2133689285
NM_000360.4(TH):c.1215G>A (p.Glu405=) rs1590165298
NM_000360.4(TH):c.1218G>A (p.Glu406=) rs2133689255
NM_000360.4(TH):c.1219C>G (p.Pro407Ala)
NM_000360.4(TH):c.1224G>A (p.Glu408=) rs1037422057
NM_000360.4(TH):c.1227T>C (p.Ile409=) rs546226132
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1229G>C (p.Arg410Pro)
NM_000360.4(TH):c.1229G>T (p.Arg410Leu) rs367874223
NM_000360.4(TH):c.1236C>A (p.Phe412Leu)
NM_000360.4(TH):c.1239C>T (p.Asp413=) rs2133689129
NM_000360.4(TH):c.123C>T (p.Leu41=) rs2133700103
NM_000360.4(TH):c.1240C>T (p.Pro414Ser)
NM_000360.4(TH):c.1242T>C (p.Pro414=)
NM_000360.4(TH):c.1245G>A (p.Glu415=)
NM_000360.4(TH):c.1252dup (p.Ala418fs)
NM_000360.4(TH):c.1260G>A (p.Gln420=)
NM_000360.4(TH):c.1262C>T (p.Pro421Leu) rs752022049
NM_000360.4(TH):c.1266C>A (p.Tyr422Ter) rs1554922441
NM_000360.4(TH):c.1267C>T (p.Gln423Ter)
NM_000360.4(TH):c.126C>T (p.Ile42=) rs755664117
NM_000360.4(TH):c.1271A>C (p.Asp424Ala) rs1590165136
NM_000360.4(TH):c.1272C>T (p.Asp424=) rs2133689008
NM_000360.4(TH):c.1273C>T (p.Gln425Ter)
NM_000360.4(TH):c.1278G>T (p.Thr426=)
NM_000360.4(TH):c.1282C>T (p.Gln428Ter) rs786204540
NM_000360.4(TH):c.1282del (p.Gln428fs) rs1554922434
NM_000360.4(TH):c.1285T>C (p.Ser429Pro)
NM_000360.4(TH):c.1287A>C (p.Ser429=) rs1590165106
NM_000360.4(TH):c.1287_1290del (p.Val430fs)
NM_000360.4(TH):c.1288G>A (p.Val430Ile) rs2133688950
NM_000360.4(TH):c.1290C>G (p.Val430=) rs367962981
NM_000360.4(TH):c.1296C>A (p.Phe432Leu) rs760210103
NM_000360.4(TH):c.12C>A (p.Pro4=) rs147131010
NM_000360.4(TH):c.12_43del (p.Asp5fs) rs1554924357
NM_000360.4(TH):c.12dup (p.Asp5fs) rs1057516716
NM_000360.4(TH):c.1308C>T (p.Ser436=) rs2133688882
NM_000360.4(TH):c.1318G>A (p.Ala440Thr)
NM_000360.4(TH):c.1318G>T (p.Ala440Ser) rs374465917
NM_000360.4(TH):c.1324G>C (p.Asp442His) rs775587609
NM_000360.4(TH):c.1326C>T (p.Asp442=) rs1262220896
NM_000360.4(TH):c.1330C>T (p.Leu444Phe)
NM_000360.4(TH):c.1333A>G (p.Arg445Gly) rs1846054204
NM_000360.4(TH):c.1334+10G>A rs2133688753
NM_000360.4(TH):c.1334+10G>C
NM_000360.4(TH):c.1334+11C>A
NM_000360.4(TH):c.1334+16A>C
NM_000360.4(TH):c.1334+1G>A
NM_000360.4(TH):c.1334+20C>A
NM_000360.4(TH):c.1334+7T>C
NM_000360.4(TH):c.1334+9G>C rs758713265
NM_000360.4(TH):c.1335-11C>A rs756737351
NM_000360.4(TH):c.1335-11C>G
NM_000360.4(TH):c.1335-13C>T rs1846025725
NM_000360.4(TH):c.1335-15C>T
NM_000360.4(TH):c.1335-18T>A
NM_000360.4(TH):c.1335-19C>G
NM_000360.4(TH):c.1335-1G>A rs1554922200
NM_000360.4(TH):c.1335-6C>T
NM_000360.4(TH):c.133G>A (p.Ala45Thr) rs1846204853
NM_000360.4(TH):c.1341T>A (p.Tyr447Ter)
NM_000360.4(TH):c.1341T>C (p.Tyr447=) rs1442860813
NM_000360.4(TH):c.1344C>T (p.Ala448=)
NM_000360.4(TH):c.1347A>C (p.Ser449=) rs2133686969
NM_000360.4(TH):c.1348C>A (p.Arg450Ser)
NM_000360.4(TH):c.1350C>A (p.Arg450=) rs1590164188
NM_000360.4(TH):c.1353C>T (p.Ile451=)
NM_000360.4(TH):c.1354C>T (p.Gln452Ter) rs2133686936
NM_000360.4(TH):c.1357C>T (p.Arg453Cys) rs755922032
NM_000360.4(TH):c.1359C>T (p.Arg453=) rs2133686922
NM_000360.4(TH):c.135C>T (p.Ala45=) rs1488262765
NM_000360.4(TH):c.1367C>G (p.Ser456Cys)
NM_000360.4(TH):c.1369G>A (p.Val457Met)
NM_000360.4(TH):c.1378G>A (p.Asp460Asn)
NM_000360.4(TH):c.1378G>T (p.Asp460Tyr)
NM_000360.4(TH):c.1380C>A (p.Asp460Glu) rs748364426
NM_000360.4(TH):c.1382C>G (p.Pro461Arg) rs767635052
NM_000360.4(TH):c.1383G>C (p.Pro461=)
NM_000360.4(TH):c.1389G>T (p.Thr463=) rs370029424
NM_000360.4(TH):c.138C>A (p.Arg46=)
NM_000360.4(TH):c.138dup (p.Lys47fs)
NM_000360.4(TH):c.1390C>G (p.Leu464Val)
NM_000360.4(TH):c.1390C>T (p.Leu464=) rs777421313
NM_000360.4(TH):c.1401C>A (p.Asp467Glu) rs3842724
NM_000360.4(TH):c.1404G>C (p.Val468=) rs2133686744
NM_000360.4(TH):c.1407G>A (p.Leu469=)
NM_000360.4(TH):c.1410C>T (p.Asp470=) rs1846020769
NM_000360.4(TH):c.1416C>T (p.Pro472=)
NM_000360.4(TH):c.1420del (p.Ala474fs)
NM_000360.4(TH):c.1428G>A (p.Arg476=) rs2133686644
NM_000360.4(TH):c.1428G>C (p.Arg476=)
NM_000360.4(TH):c.1435C>T (p.Leu479=) rs2133686613
NM_000360.4(TH):c.1437G>A (p.Leu479=)
NM_000360.4(TH):c.1440G>T (p.Glu480Asp) rs1405705464
NM_000360.4(TH):c.1442G>A (p.Gly481Asp) rs564949885
NM_000360.4(TH):c.1442G>T (p.Gly481Val) rs564949885
NM_000360.4(TH):c.1445T>C (p.Val482Ala)
NM_000360.4(TH):c.1449G>A (p.Gln483=) rs1846018715
NM_000360.4(TH):c.1450G>C (p.Asp484His)
NM_000360.4(TH):c.1453G>A (p.Glu485Lys)
NM_000360.4(TH):c.1458G>A (p.Leu486=)
NM_000360.4(TH):c.1459G>C (p.Asp487His) rs2133686524
NM_000360.4(TH):c.145C>T (p.Arg49Trp) rs1312843586
NM_000360.4(TH):c.1460A>G (p.Asp487Gly)
NM_000360.4(TH):c.1461C>T (p.Asp487=) rs2133686512
NM_000360.4(TH):c.1462A>G (p.Thr488Ala)
NM_000360.4(TH):c.146G>A (p.Arg49Gln)
NM_000360.4(TH):c.1473T>C (p.His491=) rs2133686471
NM_000360.4(TH):c.1476G>T (p.Ala492=)
NM_000360.4(TH):c.1479G>A (p.Leu493=)
NM_000360.4(TH):c.1490G>T (p.Gly497Val)
NM_000360.4(TH):c.151G>A (p.Ala51Thr)
NM_000360.4(TH):c.152C>T (p.Ala51Val)
NM_000360.4(TH):c.156G>A (p.Ala52=) rs769897682
NM_000360.4(TH):c.156G>T (p.Ala52=) rs769897682
NM_000360.4(TH):c.165A>G (p.Ala55=) rs2133699994
NM_000360.4(TH):c.16G>T (p.Ala6Ser)
NM_000360.4(TH):c.174T>A (p.Ala58=) rs2133699946
NM_000360.4(TH):c.177A>T (p.Ala59=)
NM_000360.4(TH):c.183C>T (p.Pro61=)
NM_000360.4(TH):c.18C>A (p.Ala6=)
NM_000360.4(TH):c.192del (p.Asp66fs)
NM_000360.4(TH):c.198C>T (p.Asp66=)
NM_000360.4(TH):c.200C>T (p.Pro67Leu) rs752445432
NM_000360.4(TH):c.202C>T (p.Leu68=) rs372393199
NM_000360.4(TH):c.202del (p.Leu68fs)
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.205G>A (p.Glu69Lys)
NM_000360.4(TH):c.207G>A (p.Glu69=) rs2133699832
NM_000360.4(TH):c.217T>C (p.Phe73Leu) rs577028504
NM_000360.4(TH):c.21C>A (p.Thr7=) rs2133704280
NM_000360.4(TH):c.222G>C (p.Glu74Asp)
NM_000360.4(TH):c.225G>T (p.Glu75Asp)
NM_000360.4(TH):c.231G>A (p.Glu77=) rs2133699752
NM_000360.4(TH):c.237G>A (p.Lys79=)
NM_000360.4(TH):c.245T>G (p.Leu82Arg) rs990443240
NM_000360.4(TH):c.255C>T (p.Leu85=) rs2133699675
NM_000360.4(TH):c.259T>C (p.Ser87Pro) rs1846199834
NM_000360.4(TH):c.25C>T (p.Pro9Ser)
NM_000360.4(TH):c.263del (p.Pro88fs)
NM_000360.4(TH):c.278_296dup (p.Val100fs) rs1554923810
NM_000360.4(TH):c.279C>G (p.Pro93=)
NM_000360.4(TH):c.281C>A (p.Ser94Ter) rs760640869
NM_000360.4(TH):c.281C>T (p.Ser94Leu)
NM_000360.4(TH):c.282G>A (p.Ser94=) rs75348531
NM_000360.4(TH):c.282G>C (p.Ser94=) rs75348531
NM_000360.4(TH):c.282G>T (p.Ser94=)
NM_000360.4(TH):c.283del (p.Ala95fs) rs797045111
NM_000360.4(TH):c.284C>A (p.Ala95Glu) rs769126179
NM_000360.4(TH):c.284C>G (p.Ala95Gly) rs769126179
NM_000360.4(TH):c.284C>T (p.Ala95Val) rs769126179
NM_000360.4(TH):c.286_312+18dup rs1388275002
NM_000360.4(TH):c.291_292del (p.Arg98fs)
NM_000360.4(TH):c.293G>A (p.Arg98Gln)
NM_000360.4(TH):c.293G>C (p.Arg98Pro) rs375214998
NM_000360.4(TH):c.293_295dup (p.Arg98_Ala99insGly) rs1590170978
NM_000360.4(TH):c.298G>A (p.Val100Met) rs1353856728
NM_000360.4(TH):c.298G>C (p.Val100Leu)
NM_000360.4(TH):c.302A>G (p.Lys101Arg) rs1284709971
NM_000360.4(TH):c.308T>C (p.Phe103Ser)
NM_000360.4(TH):c.312+10T>C rs2133699465
NM_000360.4(TH):c.312+11G>T
NM_000360.4(TH):c.312+12G>A
NM_000360.4(TH):c.312+13C>A
NM_000360.4(TH):c.312+18G>A
NM_000360.4(TH):c.312+19T>G
NM_000360.4(TH):c.312+1G>A rs1554923802
NM_000360.4(TH):c.312+6C>T rs753670938
NM_000360.4(TH):c.313-10G>A
NM_000360.4(TH):c.313-12T>C
NM_000360.4(TH):c.313-13T>C
NM_000360.4(TH):c.313-18C>G
NM_000360.4(TH):c.313-8T>C
NM_000360.4(TH):c.314C>T (p.Thr105Met)
NM_000360.4(TH):c.318T>C (p.Phe106=)
NM_000360.4(TH):c.31G>A (p.Ala11Thr)
NM_000360.4(TH):c.328del (p.Ile110fs)
NM_000360.4(TH):c.32C>A (p.Ala11Asp) rs933425557
NM_000360.4(TH):c.32C>G (p.Ala11Gly) rs933425557
NM_000360.4(TH):c.333C>T (p.His111=) rs2133697797
NM_000360.4(TH):c.337C>G (p.Leu113Val) rs1846169186
NM_000360.4(TH):c.339A>G (p.Leu113=)
NM_000360.4(TH):c.344C>T (p.Thr115Ile) rs756013579
NM_000360.4(TH):c.345C>G (p.Thr115=) rs1590169970
NM_000360.4(TH):c.346C>A (p.Arg116=) rs571368528
NM_000360.4(TH):c.347G>A (p.Arg116Gln)
NM_000360.4(TH):c.347G>C (p.Arg116Pro)
NM_000360.4(TH):c.348G>A (p.Arg116=) rs1590169952
NM_000360.4(TH):c.352G>T (p.Ala118Ser)
NM_000360.4(TH):c.354_370del (p.Gln119fs)
NM_000360.4(TH):c.357G>A (p.Gln119=)
NM_000360.4(TH):c.359G>A (p.Arg120Lys)
NM_000360.4(TH):c.364C>A (p.Arg122=) rs771610752
NM_000360.4(TH):c.369T>G (p.Ala123=) rs2133697665
NM_000360.4(TH):c.374_387dup (p.Tyr130fs) rs2133697599
NM_000360.4(TH):c.375C>G (p.Gly125=) rs2133697637
NM_000360.4(TH):c.378C>A (p.Pro126=) rs779782825
NM_000360.4(TH):c.382C>T (p.Leu128=) rs2133697620
NM_000360.4(TH):c.384G>A (p.Leu128=) rs2133697614
NM_000360.4(TH):c.385G>A (p.Glu129Lys) rs1178215140
NM_000360.4(TH):c.390C>T (p.Tyr130=)
NM_000360.4(TH):c.392_395dup (p.Leu134fs)
NM_000360.4(TH):c.394G>C (p.Val132Leu) rs751702426
NM_000360.4(TH):c.397C>T (p.Arg133Cys)
NM_000360.4(TH):c.398G>T (p.Arg133Leu) rs376881948
NM_000360.4(TH):c.399C>T (p.Arg133=)
NM_000360.4(TH):c.39C>T (p.Gly13=)
NM_000360.4(TH):c.401_412del (p.Leu134_Arg137del) rs1846165944
NM_000360.4(TH):c.403G>A (p.Glu135Lys)
NM_000360.4(TH):c.407T>A (p.Val136Glu) rs1590169802
NM_000360.4(TH):c.408G>A (p.Val136=) rs1846166191
NM_000360.4(TH):c.409C>T (p.Arg137Cys)
NM_000360.4(TH):c.412C>T (p.Arg138Ter)
NM_000360.4(TH):c.413G>A (p.Arg138Gln)
NM_000360.4(TH):c.414A>G (p.Arg138=) rs528105731
NM_000360.4(TH):c.417G>A (p.Gly139=) rs1846165575
NM_000360.4(TH):c.417G>C (p.Gly139=)
NM_000360.4(TH):c.418G>A (p.Asp140Asn)
NM_000360.4(TH):c.423G>C (p.Leu141=)
NM_000360.4(TH):c.424G>T (p.Ala142Ser) rs770167236
NM_000360.4(TH):c.42C>G (p.Phe14Leu)
NM_000360.4(TH):c.432G>C (p.Leu144=) rs2133697405
NM_000360.4(TH):c.432G>T (p.Leu144=) rs2133697405
NM_000360.4(TH):c.443T>C (p.Val148Ala) rs942789428
NM_000360.4(TH):c.446G>A (p.Arg149His)
NM_000360.4(TH):c.446_447del (p.Arg149fs)
NM_000360.4(TH):c.447C>T (p.Arg149=)
NM_000360.4(TH):c.44G>A (p.Arg15His) rs199648386
NM_000360.4(TH):c.44G>T (p.Arg15Leu)
NM_000360.4(TH):c.45C>T (p.Arg15=)
NM_000360.4(TH):c.463G>A (p.Val155Met)
NM_000360.4(TH):c.467G>A (p.Arg156His)
NM_000360.4(TH):c.469delinsCTCACCCTTGG (p.Ser157fs)
NM_000360.4(TH):c.46A>G (p.Arg16Gly)
NM_000360.4(TH):c.473C>T (p.Pro158Leu)
NM_000360.4(TH):c.475G>A (p.Ala159Thr)
NM_000360.4(TH):c.476C>T (p.Ala159Val)
NM_000360.4(TH):c.479G>A (p.Gly160Glu) rs777823354
NM_000360.4(TH):c.480G>A (p.Gly160=)
NM_000360.4(TH):c.487+118G>A
NM_000360.4(TH):c.487+18C>G
NM_000360.4(TH):c.487+1G>A rs1554923513
NM_000360.4(TH):c.487+1G>C rs1554923513
NM_000360.4(TH):c.487+2T>C rs1057517003
NM_000360.4(TH):c.487+7C>T
NM_000360.4(TH):c.487+8G>T rs749511812
NM_000360.4(TH):c.487+9G>T rs2133697188
NM_000360.4(TH):c.488-11C>T
NM_000360.4(TH):c.488-14C>T
NM_000360.4(TH):c.488-17C>G rs918432885
NM_000360.4(TH):c.488-1G>A rs1285458218
NM_000360.4(TH):c.488-1G>T rs1285458218
NM_000360.4(TH):c.488-5T>C rs1846153668
NM_000360.4(TH):c.489C>A (p.Val163=)
NM_000360.4(TH):c.494G>A (p.Trp165Ter)
NM_000360.4(TH):c.503G>A (p.Arg168Lys)
NM_000360.4(TH):c.507del (p.Val170fs)
NM_000360.4(TH):c.50C>A (p.Ala17Asp) rs2133704171
NM_000360.4(TH):c.510G>T (p.Val170=) rs2133696498
NM_000360.4(TH):c.513A>G (p.Ser171=) rs773094935
NM_000360.4(TH):c.519G>A (p.Leu173=) rs2133696466
NM_000360.4(TH):c.51C>G (p.Ala17=) rs199645400
NM_000360.4(TH):c.51del (p.Val18fs)
NM_000360.4(TH):c.522C>T (p.Asp174=)
NM_000360.4(TH):c.523A>T (p.Lys175Ter)
NM_000360.4(TH):c.525G>A (p.Lys175=)
NM_000360.4(TH):c.531_541del (p.His178fs)
NM_000360.4(TH):c.535C>T (p.Leu179=) rs547467882
NM_000360.4(TH):c.543C>A (p.Thr181=) rs2133696399
NM_000360.4(TH):c.545_546del (p.Lys182fs)
NM_000360.4(TH):c.546G>A (p.Lys182=) rs2133696386
NM_000360.4(TH):c.548dup (p.Asp184fs)
NM_000360.4(TH):c.549C>G (p.Phe183Leu)
NM_000360.4(TH):c.550G>C (p.Asp184His)
NM_000360.4(TH):c.559C>T (p.Leu187=) rs2133696352
NM_000360.4(TH):c.564C>T (p.Asp188=)
NM_000360.4(TH):c.56C>G (p.Ser19Cys)
NM_000360.4(TH):c.575C>T (p.Pro192Leu) rs760346235
NM_000360.4(TH):c.576+11C>G
NM_000360.4(TH):c.576+16dup rs1238963534
NM_000360.4(TH):c.576+18C>T
NM_000360.4(TH):c.576+2T>G rs2133696288
NM_000360.4(TH):c.576+6T>C
NM_000360.4(TH):c.576+7G>C
NM_000360.4(TH):c.576+8G>A rs372753775
NM_000360.4(TH):c.576+8G>T rs372753775
NM_000360.4(TH):c.577-10C>G
NM_000360.4(TH):c.577-10C>T rs2133695865
NM_000360.4(TH):c.577-12C>T
NM_000360.4(TH):c.577-13C>T rs1846146910
NM_000360.4(TH):c.577-15C>T
NM_000360.4(TH):c.577-19G>A
NM_000360.4(TH):c.577-22_577-5del
NM_000360.4(TH):c.577-2A>G
NM_000360.4(TH):c.577-2A>T
NM_000360.4(TH):c.577-3C>T
NM_000360.4(TH):c.577-6C>T
NM_000360.4(TH):c.577-7C>T rs2133695862
NM_000360.4(TH):c.577G>A (p.Gly193Ser) rs2133695838
NM_000360.4(TH):c.579C>A (p.Gly193=) rs147852210
NM_000360.4(TH):c.57T>C (p.Ser19=)
NM_000360.4(TH):c.583del (p.Ser195fs)
NM_000360.4(TH):c.584C>A (p.Ser195Ter) rs372409517
NM_000360.4(TH):c.585G>C (p.Ser195=) rs376615793
NM_000360.4(TH):c.589C>T (p.Gln197Ter)
NM_000360.4(TH):c.58G>A (p.Glu20Lys) rs2133704152
NM_000360.4(TH):c.592del (p.Val198fs)
NM_000360.4(TH):c.597C>T (p.Tyr199=)
NM_000360.4(TH):c.599G>C (p.Arg200Pro) rs201224335
NM_000360.4(TH):c.601C>T (p.Gln201Ter) rs1057517423
NM_000360.4(TH):c.609G>A (p.Arg203=)
NM_000360.4(TH):c.613C>T (p.Leu205=) rs1846144092
NM_000360.4(TH):c.617T>C (p.Ile206Thr)
NM_000360.4(TH):c.625_636del (p.Ile209_Gln212del) rs1554923325
NM_000360.4(TH):c.627C>T (p.Ile209=) rs202149985
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.628G>T (p.Ala210Ser) rs1260455415
NM_000360.4(TH):c.630C>T (p.Ala210=) rs2133695646
NM_000360.4(TH):c.633C>A (p.Phe211Leu)
NM_000360.4(TH):c.634C>T (p.Gln212Ter)
NM_000360.4(TH):c.635A>G (p.Gln212Arg) rs1002471580
NM_000360.4(TH):c.63G>A (p.Leu21=) rs2133704145
NM_000360.4(TH):c.641G>T (p.Arg214Met)
NM_000360.4(TH):c.642G>A (p.Arg214=) rs139579396
NM_000360.4(TH):c.644+15C>A rs191712999
NM_000360.4(TH):c.644+15C>G rs191712999
NM_000360.4(TH):c.644+15C>T rs191712999
NM_000360.4(TH):c.644+16G>A
NM_000360.4(TH):c.644+2T>A rs1554923317
NM_000360.4(TH):c.644+8G>T
NM_000360.4(TH):c.644+8dup
NM_000360.4(TH):c.644+9C>T rs766524314
NM_000360.4(TH):c.644_644+15del rs1554923305
NM_000360.4(TH):c.645-11C>T
NM_000360.4(TH):c.645-15T>C
NM_000360.4(TH):c.645-2A>G rs1590168368
NM_000360.4(TH):c.645C>A (p.His215Gln) rs768037080
NM_000360.4(TH):c.647G>A (p.Gly216Asp)
NM_000360.4(TH):c.652C>T (p.Pro218Ser)
NM_000360.4(TH):c.654G>A (p.Pro218=) rs1489723629
NM_000360.4(TH):c.660C>G (p.Pro220=) rs1292625376
NM_000360.4(TH):c.661C>T (p.Arg221Cys)
NM_000360.4(TH):c.662G>T (p.Arg221Leu) rs150559011
NM_000360.4(TH):c.663T>A (p.Arg221=)
NM_000360.4(TH):c.669G>A (p.Glu223=) rs2133694789
NM_000360.4(TH):c.672C>G (p.Tyr224Ter) rs1554923218
NM_000360.4(TH):c.672C>T (p.Tyr224=) rs1554923218
NM_000360.4(TH):c.678C>A (p.Ala226=)
NM_000360.4(TH):c.678C>G (p.Ala226=) rs139619260
NM_000360.4(TH):c.680A>C (p.Glu227Ala) rs929509309
NM_000360.4(TH):c.685A>C (p.Ile229Leu) rs778613708
NM_000360.4(TH):c.695+11C>A
NM_000360.4(TH):c.695+11C>G
NM_000360.4(TH):c.695+12G>A rs757808045
NM_000360.4(TH):c.695+12G>C rs757808045
NM_000360.4(TH):c.695+15C>A rs767877866
NM_000360.4(TH):c.695+1G>C
NM_000360.4(TH):c.695+20A>G
NM_000360.4(TH):c.695+8C>T rs2133694676
NM_000360.4(TH):c.696-10C>G
NM_000360.4(TH):c.696-138G>A rs7925784
NM_000360.4(TH):c.696-14C>T
NM_000360.4(TH):c.696-15C>A
NM_000360.4(TH):c.696-1G>A
NM_000360.4(TH):c.696-2A>G rs1554923121
NM_000360.4(TH):c.696-4G>A rs750548460
NM_000360.4(TH):c.696-8_696-7delinsCT rs2133693922
NM_000360.4(TH):c.69C>T (p.Ala23=) rs2133704123
NM_000360.4(TH):c.6C>T (p.Pro2=)
NM_000360.4(TH):c.702G>A (p.Glu234=) rs1324380637
NM_000360.4(TH):c.702G>T (p.Glu234Asp)
NM_000360.4(TH):c.708del (p.Val235_Tyr236insTer)
NM_000360.4(TH):c.711del (p.Thr238fs)
NM_000360.4(TH):c.713C>G (p.Thr238Arg)
NM_000360.4(TH):c.713C>T (p.Thr238Met) rs757607038
NM_000360.4(TH):c.714G>C (p.Thr238=) rs747783772
NM_000360.4(TH):c.714_715del (p.Leu239fs) rs1564918287
NM_000360.4(TH):c.717G>A (p.Leu239=) rs2133693841
NM_000360.4(TH):c.717del (p.Lys240fs) rs1057516712
NM_000360.4(TH):c.722G>A (p.Gly241Asp)
NM_000360.4(TH):c.723C>T (p.Gly241=)
NM_000360.4(TH):c.724C>T (p.Leu242Phe) rs1457094087
NM_000360.4(TH):c.727T>C (p.Tyr243His) rs1196330512
NM_000360.4(TH):c.730G>C (p.Ala244Pro) rs759968927
NM_000360.4(TH):c.730G>T (p.Ala244Ser) rs759968927
NM_000360.4(TH):c.732C>T (p.Ala244=) rs1846114858
NM_000360.4(TH):c.739G>A (p.Ala247Thr)
NM_000360.4(TH):c.739_743dup (p.Cys248fs)
NM_000360.4(TH):c.744C>T (p.Cys248=)
NM_000360.4(TH):c.747G>A (p.Gly249=) rs2133693705
NM_000360.4(TH):c.748del (p.Glu250fs)
NM_000360.4(TH):c.755T>C (p.Leu252Pro) rs978552119
NM_000360.4(TH):c.756G>C (p.Leu252=) rs1381505844
NM_000360.4(TH):c.759G>A (p.Glu253=) rs769914766
NM_000360.4(TH):c.75G>A (p.Gln25=) rs2133704107
NM_000360.4(TH):c.762C>T (p.Ala254=)
NM_000360.4(TH):c.765T>G (p.Phe255Leu)
NM_000360.4(TH):c.767C>T (p.Ala256Val)
NM_000360.4(TH):c.777G>A (p.Glu259=)
NM_000360.4(TH):c.778C>G (p.Arg260Gly) rs376462928
NM_000360.4(TH):c.778del (p.Arg260fs)
NM_000360.4(TH):c.779del (p.Arg260fs)
NM_000360.4(TH):c.787G>A (p.Gly263Ser)
NM_000360.4(TH):c.788del (p.Gly263fs) rs2133693561
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
NM_000360.4(TH):c.78A>G (p.Ala26=) rs2133704085
NM_000360.4(TH):c.78del (p.Glu27fs) rs1846263622
NM_000360.4(TH):c.792C>G (p.Tyr264Ter)
NM_000360.4(TH):c.795G>C (p.Arg265=)
NM_000360.4(TH):c.795G>T (p.Arg265=) rs773688571
NM_000360.4(TH):c.796G>T (p.Glu266Ter)
NM_000360.4(TH):c.799G>C (p.Asp267His) rs1057524283
NM_000360.4(TH):c.804T>C (p.Asn268=) rs1312460384
NM_000360.4(TH):c.807C>A (p.Ile269=) rs763824588
NM_000360.4(TH):c.807C>T (p.Ile269=) rs763824588
NM_000360.4(TH):c.810C>G (p.Pro270=) rs1846110224
NM_000360.4(TH):c.810C>T (p.Pro270=) rs1846110224
NM_000360.4(TH):c.811C>T (p.Gln271Ter)
NM_000360.4(TH):c.815T>G (p.Leu272Arg) rs775410637
NM_000360.4(TH):c.816G>A (p.Leu272=)
NM_000360.4(TH):c.818A>C (p.Glu273Ala) rs1846110049
NM_000360.4(TH):c.81G>A (p.Glu27=) rs139742336
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000360.4(TH):c.820_823del (p.Asp274fs)
NM_000360.4(TH):c.821A>G (p.Asp274Gly)
NM_000360.4(TH):c.822C>T (p.Asp274=) rs776737582
NM_000360.4(TH):c.824T>G (p.Val275Gly) rs2133693418
NM_000360.4(TH):c.825C>T (p.Val275=) rs1384915680
NM_000360.4(TH):c.827C>A (p.Ser276Tyr)
NM_000360.4(TH):c.829C>A (p.Arg277Ser) rs2133693392
NM_000360.4(TH):c.82G>C (p.Ala28Pro)
NM_000360.4(TH):c.831C>G (p.Arg277=) rs1408483848
NM_000360.4(TH):c.835dup (p.Leu279fs)
NM_000360.4(TH):c.837del (p.Lys280fs)
NM_000360.4(TH):c.839_840insCC (p.Lys280fs)
NM_000360.4(TH):c.841+13G>C
NM_000360.4(TH):c.841+14G>C
NM_000360.4(TH):c.841+18G>A
NM_000360.4(TH):c.841+1G>A
NM_000360.4(TH):c.841+1G>T rs2133693369
NM_000360.4(TH):c.841+3G>A rs528887823
NM_000360.4(TH):c.841+5G>A rs1846109018
NM_000360.4(TH):c.841+8C>G
NM_000360.4(TH):c.841+9A>G rs2133693348
NM_000360.4(TH):c.842-10C>A rs1397228949
NM_000360.4(TH):c.842-12G>A rs1009338117
NM_000360.4(TH):c.842-16G>C
NM_000360.4(TH):c.842-3C>A
NM_000360.4(TH):c.842-7C>G
NM_000360.4(TH):c.842-7C>T
NM_000360.4(TH):c.842-9C>G
NM_000360.4(TH):c.845dup (p.Thr283fs) rs1554923004
NM_000360.4(TH):c.849G>C (p.Thr283=) rs892319076
NM_000360.4(TH):c.858G>A (p.Gln286=)
NM_000360.4(TH):c.862C>T (p.Arg288Trp)
NM_000360.4(TH):c.864G>A (p.Arg288=)
NM_000360.4(TH):c.864G>C (p.Arg288=) rs2133692970
NM_000360.4(TH):c.867T>A (p.Pro289=) rs2133692968
NM_000360.4(TH):c.873C>G (p.Ala291=) rs1176834491
NM_000360.4(TH):c.876C>T (p.Gly292=)
NM_000360.4(TH):c.885C>A (p.Ser295=)
NM_000360.4(TH):c.889C>T (p.Arg297Trp)
NM_000360.4(TH):c.891G>A (p.Arg297=) rs1184382907
NM_000360.4(TH):c.898del (p.Leu300fs)
NM_000360.4(TH):c.90+10C>T rs1554924321
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000360.4(TH):c.90+14T>A
NM_000360.4(TH):c.90+1G>T rs1554924329
NM_000360.4(TH):c.90+20C>A
NM_000360.4(TH):c.90+21C>T
NM_000360.4(TH):c.90+22C>A
NM_000360.4(TH):c.90+22C>T rs753296112
NM_000360.4(TH):c.90+25C>G
NM_000360.4(TH):c.90+25C>T
NM_000360.4(TH):c.90+26G>A rs191356744
NM_000360.4(TH):c.90+2_90+3dup rs1554924328
NM_000360.4(TH):c.90+30G>T
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.90+913C>G
NM_000360.4(TH):c.90+9G>A
NM_000360.4(TH):c.90+9G>T
NM_000360.4(TH):c.900G>C (p.Leu300=)
NM_000360.4(TH):c.901G>T (p.Ala301Ser)
NM_000360.4(TH):c.907C>T (p.Leu303=) rs1229760285
NM_000360.4(TH):c.909G>A (p.Leu303=)
NM_000360.4(TH):c.909G>C (p.Leu303=)
NM_000360.4(TH):c.91-10G>T
NM_000360.4(TH):c.91-13C>T
NM_000360.4(TH):c.91-16C>T rs2133700285
NM_000360.4(TH):c.91-19G>A
NM_000360.4(TH):c.91-1G>C
NM_000360.4(TH):c.91-20_91-10del rs2133700266
NM_000360.4(TH):c.91-4A>C rs2133700257
NM_000360.4(TH):c.91-5C>T
NM_000360.4(TH):c.91-801C>T
NM_000360.4(TH):c.91-806_91-805del
NM_000360.4(TH):c.91-810G>A
NM_000360.4(TH):c.91-810G>C
NM_000360.4(TH):c.91-819G>A rs1330998143
NM_000360.4(TH):c.91-819G>T rs1330998143
NM_000360.4(TH):c.91-822A>G rs1023369939
NM_000360.4(TH):c.91-831C>T rs2133701838
NM_000360.4(TH):c.91-833dup
NM_000360.4(TH):c.91-835AC[3]
NM_000360.4(TH):c.91-838C>T rs1195830888
NM_000360.4(TH):c.91-840A>G
NM_000360.4(TH):c.91-847C>T
NM_000360.4(TH):c.91-849C>T
NM_000360.4(TH):c.91-851G>A rs1186732715
NM_000360.4(TH):c.91-856C>A
NM_000360.4(TH):c.91-860G>T
NM_000360.4(TH):c.91-870T>C rs748155087
NM_000360.4(TH):c.91-871C>T rs1313952475
NM_000360.4(TH):c.91-873C>A rs771992434
NM_000360.4(TH):c.91-875G>A
NM_000360.4(TH):c.91-882C>T
NM_000360.4(TH):c.91-883dup
NM_000360.4(TH):c.91-885C>T
NM_000360.4(TH):c.91-886C>T
NM_000360.4(TH):c.91-888G>A rs1227673897
NM_000360.4(TH):c.91-893C>T
NM_000360.4(TH):c.91-896_91-885del rs1554924102
NM_000360.4(TH):c.91-897C>A
NM_000360.4(TH):c.91-897C>G rs762373165
NM_000360.4(TH):c.91-8C>T rs1490379030
NM_000360.4(TH):c.91-900G>A rs1554924111
NM_000360.4(TH):c.91-901A>C rs1554924114
NM_000360.4(TH):c.91-903C>A rs1036726742
NM_000360.4(TH):c.91-904C>T rs1590172417
NM_000360.4(TH):c.91-907C>T
NM_000360.4(TH):c.91-9_107del rs1057516874
NM_000360.4(TH):c.912C>T (p.Ala304=) rs1590167156
NM_000360.4(TH):c.916del (p.Arg306fs)
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.920T>C (p.Val307Ala)
NM_000360.4(TH):c.921del (p.Phe308fs) rs1057516491
NM_000360.4(TH):c.925C>T (p.Gln309Ter)
NM_000360.4(TH):c.933C>G (p.Thr311=)
NM_000360.4(TH):c.933C>T (p.Thr311=)
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
NM_000360.4(TH):c.93C>T (p.Ser31=) rs1217960145
NM_000360.4(TH):c.942C>T (p.Ile314=)
NM_000360.4(TH):c.948C>T (p.His316=)
NM_000360.4(TH):c.950C>A (p.Ala317Glu)
NM_000360.4(TH):c.951G>A (p.Ala317=) rs1590167106
NM_000360.4(TH):c.956C>A (p.Ser319Ter)
NM_000360.4(TH):c.957G>A (p.Ser319=)
NM_000360.4(TH):c.960C>A (p.Pro320=) rs1846099712
NM_000360.4(TH):c.960C>T (p.Pro320=)
NM_000360.4(TH):c.969C>T (p.Ser323=) rs2133692653
NM_000360.4(TH):c.96G>C (p.Pro32=) rs202167640
NM_000360.4(TH):c.970C>T (p.Pro324Ser)
NM_000360.4(TH):c.977+11G>C
NM_000360.4(TH):c.977+11G>T
NM_000360.4(TH):c.977+13C>A
NM_000360.4(TH):c.977+13C>G
NM_000360.4(TH):c.977+16G>A
NM_000360.4(TH):c.977+18C>A rs753752531
NM_000360.4(TH):c.977+1G>A rs1057516736
NM_000360.4(TH):c.977+1del
NM_000360.4(TH):c.977+20G>A
NM_000360.4(TH):c.977+20G>C
NM_000360.4(TH):c.977+8C>T rs12419447
NM_000360.4(TH):c.978-11C>T
NM_000360.4(TH):c.978-13C>G
NM_000360.4(TH):c.978-14C>T rs781570336
NM_000360.4(TH):c.978-15C>G
NM_000360.4(TH):c.978-1G>A
NM_000360.4(TH):c.978-1_1019del
NM_000360.4(TH):c.978-20C>T
NM_000360.4(TH):c.978-2A>G
NM_000360.4(TH):c.978-4G>C
NM_000360.4(TH):c.978-4G>T rs1422368520
NM_000360.4(TH):c.978-5C>T rs1337547432
NM_000360.4(TH):c.978-6G>A rs75487597
NM_000360.4(TH):c.978-8A>C rs1846096199
NM_000360.4(TH):c.97C>T (p.Arg33Trp)
NM_000360.4(TH):c.982_991del (p.Cys328fs)
NM_000360.4(TH):c.983G>T (p.Cys328Phe) rs121917765
NM_000360.4(TH):c.990del (p.His330fs) rs1846095407
NM_000360.4(TH):c.991G>T (p.Glu331Ter) rs1260079066
NM_000360.4(TH):c.993G>A (p.Glu331=) rs2133692335
NM_000360.4(TH):c.997C>T (p.Leu333=) rs2133692317
NM_000360.4(TH):c.997del (p.Leu333fs) rs1057517162
NM_000360.4(TH):c.9C>G (p.Thr3=) rs1419519961
NM_199292.2(TH):c.-69T>A rs1554924394
NM_199292.2(TH):c.-70G>A rs1372180906

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