ClinVar Miner

List of variants in gene BEST1

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 812
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.1740-42G>T rs195155 0.99519
NM_004183.4(BEST1):c.481+133A>G rs195164 0.88125
NM_004183.4(BEST1):c.247+165T>A rs195165 0.87997
NM_004183.4(BEST1):c.867+327T>G rs195160 0.86046
NM_004183.4(BEST1):c.482-313C>T rs195163 0.83853
NM_004183.4(BEST1):c.636+44C>T rs195162 0.83711
NM_004183.4(BEST1):c.714+238T>C rs2955684 0.83655
NM_004183.4(BEST1):c.714+239G>A rs2955683 0.83635
NM_004183.4(BEST1):c.1100+276G>A rs195157 0.79340
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_004183.3(BEST1):c.-221T>C rs972353 0.48222
NM_004183.4(BEST1):c.-37+137G>A rs2736597 0.48202
NM_004183.4(BEST1):c.636+113T>G rs195161 0.44141
NM_004183.4(BEST1):c.481+280A>T rs909268 0.37605
NM_004183.4(BEST1):c.482-24C>T rs760306 0.37512
NM_004183.4(BEST1):c.1739+188T>C rs17185413 0.16159
NM_004183.3(BEST1):c.-329C>T rs972354 0.14911
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_004183.4(BEST1):c.-36-217G>A rs2736596 0.05121
NM_004183.4(BEST1):c.696C>A (p.Ile232=) rs1805140 0.03928
NM_004183.4(BEST1):c.714+69_714+70insCACCTA rs1312136371 0.03272
NM_004183.4(BEST1):c.1739+49C>A rs115379107 0.02572
NM_004183.4(BEST1):c.-36-173T>C rs11825719 0.02483
NM_004183.4(BEST1):c.1739+62G>T rs115979721 0.02104
NM_004183.4(BEST1):c.1100+232C>A rs111677305 0.02090
NM_004183.4(BEST1):c.481+211dup rs369434976 0.01983
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393 0.01850
NM_004183.4(BEST1):c.714+138T>C rs141507235 0.01835
NM_004183.4(BEST1):c.868-253G>A rs78012644 0.01822
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693 0.01704
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691 0.01704
NM_004183.4(BEST1):c.636+181C>A rs75769763 0.01703
NM_004183.4(BEST1):c.-37+274G>A rs77651946 0.01674
NM_004183.4(BEST1):c.248-231C>T rs114944671 0.01637
NM_004183.4(BEST1):c.153-75C>T rs112665957 0.01288
NM_004183.4(BEST1):c.153-135G>C rs77543508 0.01280
NM_004183.4(BEST1):c.-37+329T>C rs73493205 0.01195
NM_004183.3(BEST1):c.-428C>T rs77151527 0.00974
NM_004183.3(BEST1):c.-373T>A rs117165769 0.00757
NM_004183.4(BEST1):c.868-17C>A rs148662546 0.00324
NM_004183.4(BEST1):c.213C>T (p.Ser71=) rs57132800 0.00289
NM_004183.4(BEST1):c.949-101A>G rs538729930 0.00230
NM_004183.4(BEST1):c.637-6C>T rs62639356 0.00147
NM_004183.4(BEST1):c.1739+189C>T rs137853901 0.00116
NM_004183.4(BEST1):c.624G>A (p.Gln208=) rs150247275 0.00114
NM_004183.3(BEST1):c.-536T>C rs137965157 0.00090
NM_004183.4(BEST1):c.482-15C>T rs201010315 0.00088
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr) rs145209035 0.00086
NM_004183.4(BEST1):c.1740-27T>C rs62640569 0.00051
NM_004183.4(BEST1):c.1087A>C (p.Thr363Pro) rs147228028 0.00045
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_004183.4(BEST1):c.495G>A (p.Pro165=) rs182941675 0.00022
NM_004183.4(BEST1):c.231C>T (p.Pro77=) rs142053865 0.00016
NM_004183.4(BEST1):c.*45T>C rs201586629 0.00015
NM_004183.4(BEST1):c.1063C>T (p.Arg355Cys) rs139637557 0.00013
NM_004183.4(BEST1):c.1193C>T (p.Ser398Phe) rs199890510 0.00013
NM_004183.4(BEST1):c.1215G>A (p.Arg405=) rs751740475 0.00012
NM_004183.4(BEST1):c.992G>A (p.Arg331Gln) rs201386186 0.00012
NM_004183.4(BEST1):c.1080G>A (p.Met360Ile) rs145212203 0.00011
NM_004183.4(BEST1):c.1306G>A (p.Val436Ile) rs145439032 0.00010
NM_004183.4(BEST1):c.1305C>T (p.Asn435=) rs532728444 0.00009
NM_004183.4(BEST1):c.1752T>A (p.His584Gln) rs534854547 0.00009
NM_004183.4(BEST1):c.*89dup rs281865284 0.00008
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr) rs147409760 0.00008
NM_004183.4(BEST1):c.1271G>C (p.Gly424Ala) rs201210799 0.00007
NM_004183.4(BEST1):c.1101-20C>A rs527614503 0.00006
NM_004183.4(BEST1):c.1118T>C (p.Met373Thr) rs1000828274 0.00006
NM_004183.4(BEST1):c.1415del (p.Leu472fs) rs752125512 0.00006
NM_004183.4(BEST1):c.443A>T (p.Tyr148Phe) rs760471818 0.00006
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00006
NM_004183.4(BEST1):c.821C>G (p.Pro274Arg) rs62639270 0.00006
NM_004183.4(BEST1):c.974T>C (p.Met325Thr) rs368387447 0.00006
NM_004183.4(BEST1):c.1204C>T (p.His402Tyr) rs149678971 0.00005
NM_004183.4(BEST1):c.1552G>T (p.Glu518Ter) rs370835731 0.00005
NM_004183.4(BEST1):c.248-18C>G rs1269073504 0.00005
NM_004183.4(BEST1):c.749C>G (p.Thr250Ser) rs369870892 0.00005
NM_004183.3(BEST1):c.-121C>T rs562849665 0.00004
NM_004183.4(BEST1):c.1158C>T (p.His386=) rs780666113 0.00004
NM_004183.4(BEST1):c.1169T>C (p.Ile390Thr) rs375618932 0.00004
NM_004183.4(BEST1):c.1712T>C (p.Met571Thr) rs749448206 0.00004
NM_004183.4(BEST1):c.247+18G>C rs369486390 0.00004
NM_004183.4(BEST1):c.248-6G>A rs917945147 0.00004
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter) rs121918286 0.00004
NM_004183.4(BEST1):c.714+11G>C rs376817800 0.00004
NM_004183.4(BEST1):c.830C>T (p.Thr277Met) rs775791299 0.00004
NM_004183.4(BEST1):c.936C>A (p.Asp312Glu) rs748351421 0.00004
NM_004183.4(BEST1):c.1133A>G (p.Asn378Ser) rs199998058 0.00003
NM_004183.4(BEST1):c.1159G>A (p.Ala387Thr) rs374772670 0.00003
NM_004183.4(BEST1):c.171A>C (p.Glu57Asp) rs200235532 0.00003
NM_004183.4(BEST1):c.222G>A (p.Gln74=) rs1805141 0.00003
NM_004183.4(BEST1):c.334G>A (p.Gly112Ser) rs370284244 0.00003
NM_004183.4(BEST1):c.33T>C (p.Asn11=) rs281865531 0.00003
NM_004183.4(BEST1):c.355G>C (p.Glu119Gln) rs1805142 0.00003
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser) rs750102662 0.00003
NM_004183.4(BEST1):c.409G>A (p.Val137Met) rs1363093613 0.00003
NM_004183.4(BEST1):c.418C>G (p.Leu140Val) rs267606678 0.00003
NM_004183.4(BEST1):c.481+3G>A rs745906498 0.00003
NM_004183.4(BEST1):c.537C>T (p.Asn179=) rs758504759 0.00003
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys) rs765385264 0.00003
NM_004183.4(BEST1):c.647C>T (p.Thr216Ile) rs281865275 0.00003
NM_004183.4(BEST1):c.729G>A (p.Ala243=) rs752998391 0.00003
NM_004183.4(BEST1):c.809A>C (p.Asp270Ala) rs747841550 0.00003
NM_004183.4(BEST1):c.933C>T (p.Val311=) rs281865278 0.00003
NM_004183.4(BEST1):c.991C>T (p.Arg331Trp) rs757536535 0.00003
NM_004183.4(BEST1):c.1001C>T (p.Pro334Leu) rs148326372 0.00002
NM_004183.4(BEST1):c.102C>T (p.Gly34=) rs771898125 0.00002
NM_004183.4(BEST1):c.1041C>T (p.Tyr347=) rs759411214 0.00002
NM_004183.4(BEST1):c.1065T>A (p.Arg355=) rs764237648 0.00002
NM_004183.4(BEST1):c.1174C>T (p.Arg392Cys) rs762903676 0.00002
NM_004183.4(BEST1):c.1230C>A (p.Thr410=) rs908879383 0.00002
NM_004183.4(BEST1):c.1330G>A (p.Ala444Thr) rs765604572 0.00002
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys) rs765333778 0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_004183.4(BEST1):c.1455G>A (p.Ala485=) rs537948782 0.00002
NM_004183.4(BEST1):c.1529A>G (p.Lys510Arg) rs1346625604 0.00002
NM_004183.4(BEST1):c.1550C>G (p.Ser517Ter) rs762398929 0.00002
NM_004183.4(BEST1):c.1554G>A (p.Glu518=) rs1338312225 0.00002
NM_004183.4(BEST1):c.1740-2A>G rs1190983296 0.00002
NM_004183.4(BEST1):c.244C>T (p.Leu82=) rs281865530 0.00002
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu) rs374517178 0.00002
NM_004183.4(BEST1):c.313C>T (p.Arg105Cys) rs281865273 0.00002
NM_004183.4(BEST1):c.342C>T (p.Val114=) rs1162944741 0.00002
NM_004183.4(BEST1):c.604C>T (p.Arg202Trp) rs765998048 0.00002
NM_004183.4(BEST1):c.636+1G>A rs62637337 0.00002
NM_004183.4(BEST1):c.669C>A (p.His223Gln) rs200162075 0.00002
NM_004183.4(BEST1):c.70T>C (p.Trp24Arg) rs1334381137 0.00002
NM_004183.4(BEST1):c.954C>G (p.Ser318=) rs144231113 0.00002
NM_004183.3(BEST1):c.-125G>A rs886048424 0.00001
NM_004183.4(BEST1):c.1066C>T (p.Arg356Ter) rs1295669283 0.00001
NM_004183.4(BEST1):c.1100+18G>A rs1395057978 0.00001
NM_004183.4(BEST1):c.1123T>G (p.Phe375Val) rs756372609 0.00001
NM_004183.4(BEST1):c.1175del (p.Arg392fs) rs1490119932 0.00001
NM_004183.4(BEST1):c.117C>T (p.Phe39=) rs1465926336 0.00001
NM_004183.4(BEST1):c.1206T>A (p.His402Gln) rs764148803 0.00001
NM_004183.4(BEST1):c.1212C>T (p.Pro404=) rs765611891 0.00001
NM_004183.4(BEST1):c.122T>C (p.Leu41Pro) rs121918288 0.00001
NM_004183.4(BEST1):c.1267G>A (p.Glu423Lys) rs779855350 0.00001
NM_004183.4(BEST1):c.1311G>T (p.Arg437Ser) rs760747956 0.00001
NM_004183.4(BEST1):c.1331C>T (p.Ala444Val) rs1942171666 0.00001
NM_004183.4(BEST1):c.1353C>T (p.Asp451=) rs371105070 0.00001
NM_004183.4(BEST1):c.1354G>A (p.Ala452Thr) rs1392588193 0.00001
NM_004183.4(BEST1):c.1426C>T (p.Pro476Ser) rs933520843 0.00001
NM_004183.4(BEST1):c.1430T>C (p.Met477Thr) rs775915631 0.00001
NM_004183.4(BEST1):c.1444del (p.Glu482fs) rs759410076 0.00001
NM_004183.4(BEST1):c.1454C>T (p.Ala485Val) rs867577834 0.00001
NM_004183.4(BEST1):c.1457C>T (p.Pro486Leu) rs886048428 0.00001
NM_004183.4(BEST1):c.1458G>A (p.Pro486=) rs764636188 0.00001
NM_004183.4(BEST1):c.1498A>G (p.Lys500Glu) rs368374819 0.00001
NM_004183.4(BEST1):c.1504T>C (p.Leu502=) rs1591313203 0.00001
NM_004183.4(BEST1):c.150T>C (p.Tyr50=) rs763141918 0.00001
NM_004183.4(BEST1):c.152+15G>A rs1488178170 0.00001
NM_004183.4(BEST1):c.152+6G>T rs764420497 0.00001
NM_004183.4(BEST1):c.152+7C>T rs1305920977 0.00001
NM_004183.4(BEST1):c.1532A>G (p.Lys511Arg) rs1199787091 0.00001
NM_004183.4(BEST1):c.1535G>A (p.Ser512Asn) rs775584943 0.00001
NM_004183.4(BEST1):c.1558G>A (p.Asp520Asn) rs61747600 0.00001
NM_004183.4(BEST1):c.1574A>C (p.Glu525Ala) rs200582915 0.00001
NM_004183.4(BEST1):c.159C>A (p.Ala53=) rs375873874 0.00001
NM_004183.4(BEST1):c.1626G>A (p.Thr542=) rs201492421 0.00001
NM_004183.4(BEST1):c.1629T>A (p.Asp543Glu) rs1301327650 0.00001
NM_004183.4(BEST1):c.162C>T (p.Leu54=) rs368518407 0.00001
NM_004183.4(BEST1):c.1638G>A (p.Glu546=) rs1296812524 0.00001
NM_004183.4(BEST1):c.1648A>G (p.Asn550Asp) rs1268844906 0.00001
NM_004183.4(BEST1):c.1653C>T (p.His551=) rs1479798000 0.00001
NM_004183.4(BEST1):c.165G>A (p.Thr55=) rs62637050 0.00001
NM_004183.4(BEST1):c.1678C>A (p.Pro560Thr) rs1942217534 0.00001
NM_004183.4(BEST1):c.1693A>G (p.Thr565Ala) rs767436221 0.00001
NM_004183.4(BEST1):c.1729T>C (p.Leu577=) rs200653958 0.00001
NM_004183.4(BEST1):c.1733A>G (p.Glu578Gly) rs1800010 0.00001
NM_004183.4(BEST1):c.1739+181G>C rs753857645 0.00001
NM_004183.4(BEST1):c.1740-3T>G rs1554965067 0.00001
NM_004183.4(BEST1):c.1754C>A (p.Ser585Tyr) rs1415218452 0.00001
NM_004183.4(BEST1):c.1755C>A (p.Ser585=) rs751838445 0.00001
NM_004183.4(BEST1):c.20G>A (p.Ser7Asn) rs199508634 0.00001
NM_004183.4(BEST1):c.248-26C>T rs62639354 0.00001
NM_004183.4(BEST1):c.274C>A (p.Arg92Ser) rs281865224 0.00001
NM_004183.4(BEST1):c.275G>T (p.Arg92Leu) rs281865225 0.00001
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu) rs980876322 0.00001
NM_004183.4(BEST1):c.290A>G (p.Tyr97Cys) rs369484820 0.00001
NM_004183.4(BEST1):c.313C>A (p.Arg105Ser) rs281865273 0.00001
NM_004183.4(BEST1):c.357G>A (p.Glu119=) rs751079575 0.00001
NM_004183.4(BEST1):c.387C>T (p.Ile129=) rs375950291 0.00001
NM_004183.4(BEST1):c.38G>A (p.Arg13His) rs281865209 0.00001
NM_004183.4(BEST1):c.397A>C (p.Asn133His) rs755851136 0.00001
NM_004183.4(BEST1):c.398A>G (p.Asn133Ser) rs779799704 0.00001
NM_004183.4(BEST1):c.399C>G (p.Asn133Lys) rs281865233 0.00001
NM_004183.4(BEST1):c.400C>G (p.Leu134Val) rs753614067 0.00001
NM_004183.4(BEST1):c.404G>A (p.Gly135Asp) rs1159966472 0.00001
NM_004183.4(BEST1):c.410T>C (p.Val137Ala) rs1451564462 0.00001
NM_004183.4(BEST1):c.421C>A (p.Arg141Ser) rs281865236 0.00001
NM_004183.4(BEST1):c.448C>A (p.Arg150Ser) rs1177798663 0.00001
NM_004183.4(BEST1):c.449G>C (p.Arg150Pro) rs1249897117 0.00001
NM_004183.4(BEST1):c.454C>G (p.Pro152Ala) rs1417478879 0.00001
NM_004183.4(BEST1):c.475C>T (p.Gln159Ter) rs1174029281 0.00001
NM_004183.4(BEST1):c.494C>T (p.Pro165Leu) rs1422259821 0.00001
NM_004183.4(BEST1):c.51C>A (p.Phe17Leu) rs1940696725 0.00001
NM_004183.4(BEST1):c.56G>A (p.Arg19His) rs752923595 0.00001
NM_004183.4(BEST1):c.582G>A (p.Lys194=) rs546228761 0.00001
NM_004183.4(BEST1):c.585G>A (p.Ala195=) rs776011957 0.00001
NM_004183.4(BEST1):c.5C>G (p.Thr2Ser) rs1209208472 0.00001
NM_004183.4(BEST1):c.605G>A (p.Arg202Gln) rs753437612 0.00001
NM_004183.4(BEST1):c.636+6C>T rs1459708062 0.00001
NM_004183.4(BEST1):c.636C>T (p.Asn212=) rs764196815 0.00001
NM_004183.4(BEST1):c.637-17C>T rs1565391842 0.00001
NM_004183.4(BEST1):c.638A>G (p.Glu213Gly) rs748685592 0.00001
NM_004183.4(BEST1):c.641T>C (p.Met214Thr) rs1375872764 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 0.00001
NM_004183.4(BEST1):c.699A>G (p.Pro233=) rs760816505 0.00001
NM_004183.4(BEST1):c.714+13C>T rs571352824 0.00001
NM_004183.4(BEST1):c.714+3G>T rs779217427 0.00001
NM_004183.4(BEST1):c.72G>A (p.Trp24Ter) rs281865213 0.00001
NM_004183.4(BEST1):c.74G>A (p.Arg25Gln) rs281865215 0.00001
NM_004183.4(BEST1):c.813C>T (p.Leu271=) rs370397270 0.00001
NM_004183.4(BEST1):c.822C>T (p.Pro274=) rs759678509 0.00001
NM_004183.4(BEST1):c.823G>A (p.Val275Ile) rs281865276 0.00001
NM_004183.4(BEST1):c.831G>A (p.Thr277=) rs62639274 0.00001
NM_004183.4(BEST1):c.847T>C (p.Phe283Leu) rs1941618250 0.00001
NM_004183.4(BEST1):c.860G>A (p.Trp287Ter) rs753334817 0.00001
NM_004183.4(BEST1):c.861G>C (p.Trp287Cys) rs1474961573 0.00001
NM_004183.4(BEST1):c.867+16G>A rs758028526 0.00001
NM_004183.4(BEST1):c.87C>G (p.Tyr29Ter) rs121918285 0.00001
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg) rs281865218 0.00001
NM_004183.4(BEST1):c.928A>G (p.Ile310Val) rs1247710193 0.00001
NM_004183.4(BEST1):c.934G>A (p.Asp312Asn) rs281865277 0.00001
NM_004183.4(BEST1):c.97T>C (p.Tyr33His) rs994248373 0.00001
NM_004183.4(BEST1):c.99T>C (p.Tyr33=) rs373950010 0.00001
NC_000011.9:g.(?_61717900)_(61719450_?)del
NC_000011.9:g.(?_61719279)_(61727535_?)dup
NC_000011.9:g.(?_61722559)_(61723443_?)del
NC_000011.9:g.(?_61722559)_(61727535_?)del
NC_000011.9:g.(?_61725598)_(61730385_?)del
NM_004183.3(BEST1):c.(?_-1)_(152+1_153-1)del
NM_004183.4(BEST1):c.-37+1G>T rs1555096248
NM_004183.4(BEST1):c.-37+5G>A
NM_004183.4(BEST1):c.-66G>T rs886048425
NM_004183.4(BEST1):c.1002G>A (p.Pro334=) rs372081341
NM_004183.4(BEST1):c.1007T>G (p.Met336Arg) rs727503825
NM_004183.4(BEST1):c.1012T>A (p.Trp338Arg)
NM_004183.4(BEST1):c.1013G>A (p.Trp338Ter)
NM_004183.4(BEST1):c.1014_1015delinsCT (p.Trp338_Asn339delinsCysTyr) rs2134455849
NM_004183.4(BEST1):c.1017T>C (p.Asn339=) rs2134455868
NM_004183.4(BEST1):c.1019A>C (p.Lys340Thr)
NM_004183.4(BEST1):c.1024G>A (p.Glu342Lys) rs202234687
NM_004183.4(BEST1):c.1026G>A (p.Glu342=) rs281865282
NM_004183.4(BEST1):c.1030C>T (p.Gln344Ter) rs1591303900
NM_004183.4(BEST1):c.1033C>G (p.Pro345Ala)
NM_004183.4(BEST1):c.1036C>G (p.Pro346Ala) rs1481681066
NM_004183.4(BEST1):c.1037C>A (p.Pro346His)
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) rs886041142
NM_004183.4(BEST1):c.1048G>A (p.Ala350Thr)
NM_004183.4(BEST1):c.1053C>T (p.Ser351=)
NM_004183.4(BEST1):c.1059G>A (p.Gln353=)
NM_004183.4(BEST1):c.105G>C (p.Glu35Asp) rs2134409890
NM_004183.4(BEST1):c.1062C>G (p.Phe354Leu) rs1265837064
NM_004183.4(BEST1):c.1063C>G (p.Arg355Gly) rs139637557
NM_004183.4(BEST1):c.1066C>G (p.Arg356Gly)
NM_004183.4(BEST1):c.1067G>A (p.Arg356Gln) rs751707411
NM_004183.4(BEST1):c.1067G>T (p.Arg356Leu) rs751707411
NM_004183.4(BEST1):c.1075_1077delinsATA (p.Phe359Ile) rs2134456362
NM_004183.4(BEST1):c.1095C>T (p.Asn365=)
NM_004183.4(BEST1):c.109_110delinsCC (p.Leu37Pro) rs2134409956
NM_004183.4(BEST1):c.1100+12G>A
NM_004183.4(BEST1):c.1100+1G>C rs1434513582
NM_004183.4(BEST1):c.1100+1_1100+10del rs1941898895
NM_004183.4(BEST1):c.1100+4T>C
NM_004183.4(BEST1):c.1100+83T>C rs139909214
NM_004183.4(BEST1):c.1101-14C>A
NM_004183.4(BEST1):c.1101-1G>C
NM_004183.4(BEST1):c.1101-7T>C
NM_004183.4(BEST1):c.1102C>T (p.Leu368=)
NM_004183.4(BEST1):c.1104G>C (p.Leu368=) rs886044150
NM_004183.4(BEST1):c.1111GAG[1] (p.Glu372del) rs750298564
NM_004183.4(BEST1):c.1120dup (p.Glu374fs) rs766357080
NM_004183.4(BEST1):c.1122G>A (p.Glu374=) rs2134467975
NM_004183.4(BEST1):c.113T>G (p.Ile38Ser) rs1064796849
NM_004183.4(BEST1):c.1140G>C (p.Glu380Asp)
NM_004183.4(BEST1):c.1143C>G (p.Asp381Glu)
NM_004183.4(BEST1):c.1144G>A (p.Glu382Lys)
NM_004183.4(BEST1):c.1147G>C (p.Glu383Gln) rs1479677299
NM_004183.4(BEST1):c.1157A>C (p.His386Pro) rs886048427
NM_004183.4(BEST1):c.1175G>A (p.Arg392His)
NM_004183.4(BEST1):c.1180C>T (p.Leu394=) rs2134468496
NM_004183.4(BEST1):c.1182A>G (p.Leu394=) rs1416177284
NM_004183.4(BEST1):c.1196A>G (p.His399Arg) rs2134468608
NM_004183.4(BEST1):c.1198G>C (p.Asp400His) rs767605874
NM_004183.4(BEST1):c.119dup (p.Leu41fs) rs2134410058
NM_004183.4(BEST1):c.11C>T (p.Thr4Ile) rs368383940
NM_004183.4(BEST1):c.1206T>C (p.His402=) rs764148803
NM_004183.4(BEST1):c.1211C>T (p.Pro404Leu)
NM_004183.4(BEST1):c.1214G>A (p.Arg405Lys)
NM_004183.4(BEST1):c.1229C>T (p.Thr410Ile)
NM_004183.4(BEST1):c.1248G>A (p.Lys416=)
NM_004183.4(BEST1):c.1252G>A (p.Glu418Lys)
NM_004183.4(BEST1):c.1266C>T (p.His422=) rs1942163006
NM_004183.4(BEST1):c.1311G>A (p.Arg437=) rs760747956
NM_004183.4(BEST1):c.1315C>T (p.Gln439Ter) rs1942169028
NM_004183.4(BEST1):c.1317G>A (p.Gln439=)
NM_004183.4(BEST1):c.1319_1388del (p.Glu440fs) rs2134469325
NM_004183.4(BEST1):c.1321G>A (p.Asp441Asn)
NM_004183.4(BEST1):c.1323CAA[1] (p.Asn442del) rs1316030506
NM_004183.4(BEST1):c.132C>T (p.Tyr44=)
NM_004183.4(BEST1):c.1330G>C (p.Ala444Pro)
NM_004183.4(BEST1):c.133A>G (p.Ile45Val)
NM_004183.4(BEST1):c.1344G>A (p.Lys448=) rs750853071
NM_004183.4(BEST1):c.1348G>A (p.Val450Met) rs764761141
NM_004183.4(BEST1):c.1348G>T (p.Val450Leu)
NM_004183.4(BEST1):c.1353C>G (p.Asp451Glu) rs371105070
NM_004183.4(BEST1):c.1358T>C (p.Phe453Ser)
NM_004183.4(BEST1):c.135C>T (p.Ile45=) rs2134410137
NM_004183.4(BEST1):c.1364C>G (p.Ser455Cys)
NM_004183.4(BEST1):c.1365T>A (p.Ser455=)
NM_004183.4(BEST1):c.1370C>G (p.Pro457Arg) rs1554964287
NM_004183.4(BEST1):c.1373T>G (p.Leu458Arg)
NM_004183.4(BEST1):c.1374G>A (p.Leu458=) rs980929355
NM_004183.4(BEST1):c.137T>C (p.Ile46Thr) rs989919477
NM_004183.4(BEST1):c.1382G>A (p.Arg461Lys)
NM_004183.4(BEST1):c.1382G>C (p.Arg461Thr)
NM_004183.4(BEST1):c.1396A>G (p.Ser466Gly)
NM_004183.4(BEST1):c.13T>A (p.Tyr5Asn)
NM_004183.4(BEST1):c.1400C>A (p.Ala467Asp)
NM_004183.4(BEST1):c.1403C>T (p.Pro468Leu) rs747043918
NM_004183.4(BEST1):c.1407G>A (p.Gln469=)
NM_004183.4(BEST1):c.1409C>T (p.Thr470Met)
NM_004183.4(BEST1):c.140G>T (p.Arg47Leu)
NM_004183.4(BEST1):c.1412C>T (p.Pro471Leu) rs2134470006
NM_004183.4(BEST1):c.141C>A (p.Arg47=) rs2134410214
NM_004183.4(BEST1):c.1421C>T (p.Pro474Leu) rs1162446542
NM_004183.4(BEST1):c.1443A>G (p.Leu481=)
NM_004183.4(BEST1):c.1450T>C (p.Ser484Pro)
NM_004183.4(BEST1):c.1461A>G (p.Ser487=)
NM_004183.4(BEST1):c.1464G>A (p.Lys488=)
NM_004183.4(BEST1):c.146T>C (p.Ile49Thr)
NM_004183.4(BEST1):c.1470_1471del (p.His490fs) rs281865528
NM_004183.4(BEST1):c.1473T>C (p.Ser491=) rs1464468544
NM_004183.4(BEST1):c.1483A>G (p.Ile495Val)
NM_004183.4(BEST1):c.1490C>A (p.Thr497Asn) rs578075838
NM_004183.4(BEST1):c.1492A>G (p.Lys498Glu) rs1565043094
NM_004183.4(BEST1):c.1501_1508del (p.Ser501fs)
NM_004183.4(BEST1):c.1506A>G (p.Leu502=)
NM_004183.4(BEST1):c.1506A>T (p.Leu502Phe)
NM_004183.4(BEST1):c.1513G>C (p.Val505Leu)
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs) rs752521456
NM_004183.4(BEST1):c.1516_1518dup (p.Ser507_Gly508insSer)
NM_004183.4(BEST1):c.1518T>C (p.Ser506=) rs1283936353
NM_004183.4(BEST1):c.1526C>A (p.Ala509Asp)
NM_004183.4(BEST1):c.1527C>T (p.Ala509=)
NM_004183.4(BEST1):c.152G>A (p.Arg51Lys) rs914504094
NM_004183.4(BEST1):c.153-13C>A
NM_004183.4(BEST1):c.153-14A>C rs775520760
NM_004183.4(BEST1):c.153-18C>A rs568192399
NM_004183.4(BEST1):c.153-22CCACCC[2] rs398124110
NM_004183.4(BEST1):c.153-22CCACCC[4]
NM_004183.4(BEST1):c.153-3C>T
NM_004183.4(BEST1):c.153-9C>G rs763090309
NM_004183.4(BEST1):c.1533_1534del (p.Ser512fs) rs1244671706
NM_004183.4(BEST1):c.1535G>T (p.Ser512Ile) rs775584943
NM_004183.4(BEST1):c.153G>A (p.Arg51=)
NM_004183.4(BEST1):c.1541A>G (p.Glu514Gly)
NM_004183.4(BEST1):c.1555A>C (p.Ser519Arg)
NM_004183.4(BEST1):c.1560T>A (p.Asp520Glu) rs138689602
NM_004183.4(BEST1):c.1561G>A (p.Gly521Arg)
NM_004183.4(BEST1):c.1566_1576dup (p.His526delinsProTer) rs1389863115
NM_004183.4(BEST1):c.1571T>G (p.Met524Arg)
NM_004183.4(BEST1):c.1572G>A (p.Met524Ile) rs1278023846
NM_004183.4(BEST1):c.1582G>C (p.Glu528Gln) rs1942204956
NM_004183.4(BEST1):c.1583A>G (p.Glu528Gly) rs757181644
NM_004183.4(BEST1):c.1592A>C (p.Gln531Pro)
NM_004183.4(BEST1):c.1598GGA[1] (p.Arg534del) rs2134471443
NM_004183.4(BEST1):c.1608_1609inv (p.Val537Met)
NM_004183.4(BEST1):c.1612G>A (p.Glu538Lys)
NM_004183.4(BEST1):c.1612G>C (p.Glu538Gln)
NM_004183.4(BEST1):c.1612G>T (p.Glu538Ter) rs1942208203
NM_004183.4(BEST1):c.1622del (p.Leu541fs) rs1942209287
NM_004183.4(BEST1):c.1625C>G (p.Thr542Arg)
NM_004183.4(BEST1):c.1625C>T (p.Thr542Met)
NM_004183.4(BEST1):c.1631T>C (p.Met544Thr)
NM_004183.4(BEST1):c.1632G>A (p.Met544Ile) rs1591313915
NM_004183.4(BEST1):c.1636G>C (p.Glu546Gln) rs773615280
NM_004183.4(BEST1):c.1645G>A (p.Glu549Lys)
NM_004183.4(BEST1):c.164C>T (p.Thr55Met) rs756657082
NM_004183.4(BEST1):c.1657A>C (p.Lys553Gln)
NM_004183.4(BEST1):c.1660G>C (p.Glu554Gln)
NM_004183.4(BEST1):c.1667T>C (p.Leu556Ser)
NM_004183.4(BEST1):c.1668G>C (p.Leu556Phe)
NM_004183.4(BEST1):c.1680A>T (p.Pro560=)
NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala) rs281865283
NM_004183.4(BEST1):c.1689A>G (p.Ile563Met) rs2134472255
NM_004183.4(BEST1):c.1694_1695delinsAC (p.Thr565Asn) rs1942219945
NM_004183.4(BEST1):c.1697C>A (p.Thr566Lys)
NM_004183.4(BEST1):c.169G>T (p.Glu57Ter) rs1382219910
NM_004183.4(BEST1):c.16A>C (p.Thr6Pro) rs28940275
NM_004183.4(BEST1):c.16A>G (p.Thr6Ala) rs28940275
NM_004183.4(BEST1):c.1704dup (p.Asp569fs)
NM_004183.4(BEST1):c.1707T>A (p.Asp569Glu)
NM_004183.4(BEST1):c.1718C>T (p.Pro573Leu)
NM_004183.4(BEST1):c.171ACA[1] (p.Gln59del) rs1221728254
NM_004183.4(BEST1):c.1722T>C (p.Tyr574=)
NM_004183.4(BEST1):c.1722T>G (p.Tyr574Ter) rs755188083
NM_004183.4(BEST1):c.1725G>A (p.Trp575Ter) rs779295905
NM_004183.4(BEST1):c.172C>G (p.Gln58Glu) rs1591280478
NM_004183.4(BEST1):c.172_173dup (p.Gln58fs) rs672601356
NM_004183.4(BEST1):c.1739+120T>C
NM_004183.4(BEST1):c.1739+129G>A
NM_004183.4(BEST1):c.1739+13C>T
NM_004183.4(BEST1):c.1739+14del
NM_004183.4(BEST1):c.1739+190G>A
NM_004183.4(BEST1):c.1739+19C>A
NM_004183.4(BEST1):c.1739+37C>T
NM_004183.4(BEST1):c.1739+82C>G
NM_004183.4(BEST1):c.173A>T (p.Gln58Leu) rs281865529
NM_004183.4(BEST1):c.1740-18T>C rs2134480560
NM_004183.4(BEST1):c.1740-18_1740-17del
NM_004183.4(BEST1):c.1740-19A>G
NM_004183.4(BEST1):c.1740-1G>A
NM_004183.4(BEST1):c.1740-1G>C
NM_004183.4(BEST1):c.1740-250_1740-249dup rs56215258
NM_004183.4(BEST1):c.1740-2A>C rs1190983296
NM_004183.4(BEST1):c.1740-98del rs34046408
NM_004183.4(BEST1):c.1740-98dup rs34046408
NM_004183.4(BEST1):c.1740G>A (p.Arg580=) rs1024500096
NM_004183.4(BEST1):c.1746A>C (p.Glu582Asp)
NM_004183.4(BEST1):c.179T>C (p.Leu60Pro)
NM_004183.4(BEST1):c.17C>A (p.Thr6Lys)
NM_004183.4(BEST1):c.17C>G (p.Thr6Arg) rs281865204
NM_004183.4(BEST1):c.182del (p.Met61fs) rs1941145120
NM_004183.4(BEST1):c.190A>T (p.Lys64Ter) rs2134425489
NM_004183.4(BEST1):c.1A>G (p.Met1Val)
NM_004183.4(BEST1):c.214T>G (p.Tyr72Asp) rs1941150173
NM_004183.4(BEST1):c.215A>G (p.Tyr72Cys) rs2134425715
NM_004183.4(BEST1):c.217A>C (p.Ile73Leu) rs281865220
NM_004183.4(BEST1):c.218T>A (p.Ile73Asn) rs1591280714
NM_004183.4(BEST1):c.218T>C (p.Ile73Thr)
NM_004183.4(BEST1):c.221A>G (p.Gln74Arg)
NM_004183.4(BEST1):c.224T>C (p.Leu75Pro) rs2134425822
NM_004183.4(BEST1):c.225C>T (p.Leu75=) rs1941153193
NM_004183.4(BEST1):c.226A>T (p.Ile76Phe) rs1941153466
NM_004183.4(BEST1):c.227T>A (p.Ile76Asn)
NM_004183.4(BEST1):c.227T>C (p.Ile76Thr)
NM_004183.4(BEST1):c.229C>A (p.Pro77Thr) rs1941154059
NM_004183.4(BEST1):c.233T>C (p.Ile78Thr) rs2134425906
NM_004183.4(BEST1):c.238T>A (p.Phe80Ile) rs1064793051
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu) rs281865221
NM_004183.4(BEST1):c.240C>G (p.Phe80Leu) rs281865221
NM_004183.4(BEST1):c.241G>A (p.Val81Met) rs1555098634
NM_004183.4(BEST1):c.241G>C (p.Val81Leu) rs1555098634
NM_004183.4(BEST1):c.241G>T (p.Val81Leu) rs1555098634
NM_004183.4(BEST1):c.243G>A (p.Val81=)
NM_004183.4(BEST1):c.244C>G (p.Leu82Val) rs281865530
NM_004183.4(BEST1):c.247+10C>A
NM_004183.4(BEST1):c.247+10C>G rs1173614954
NM_004183.4(BEST1):c.247+12del rs777306046
NM_004183.4(BEST1):c.247+18G>A
NM_004183.4(BEST1):c.247+20T>A
NM_004183.4(BEST1):c.247+2del rs1565387045
NM_004183.4(BEST1):c.248-10T>A
NM_004183.4(BEST1):c.248-12C>T rs62639351
NM_004183.4(BEST1):c.248-17C>T
NM_004183.4(BEST1):c.248-1G>A rs2134429776
NM_004183.4(BEST1):c.248-2A>G rs1941247515
NM_004183.4(BEST1):c.248-32C>T rs62639352
NM_004183.4(BEST1):c.249C>A (p.Gly83=)
NM_004183.4(BEST1):c.253T>C (p.Tyr85His) rs28940274
NM_004183.4(BEST1):c.256G>A (p.Val86Met) rs121918289
NM_004183.4(BEST1):c.257T>A (p.Val86Glu) rs2134429825
NM_004183.4(BEST1):c.257T>C (p.Val86Ala) rs2134429825
NM_004183.4(BEST1):c.25G>A (p.Val9Met) rs28940276
NM_004183.4(BEST1):c.25G>C (p.Val9Leu) rs28940276
NM_004183.4(BEST1):c.268G>A (p.Val90Met) rs1343490048
NM_004183.4(BEST1):c.26T>C (p.Val9Ala) rs281865205
NM_004183.4(BEST1):c.26T>G (p.Val9Gly) rs281865205
NM_004183.4(BEST1):c.272C>T (p.Thr91Ile) rs281865223
NM_004183.4(BEST1):c.274C>T (p.Arg92Cys) rs281865224
NM_004183.4(BEST1):c.275G>A (p.Arg92His) rs281865225
NM_004183.4(BEST1):c.277T>C (p.Trp93Arg) rs1941252350
NM_004183.4(BEST1):c.278G>T (p.Trp93Leu) rs2134430043
NM_004183.4(BEST1):c.279G>C (p.Trp93Cys) rs28940273
NM_004183.4(BEST1):c.279G>T (p.Trp93Cys)
NM_004183.4(BEST1):c.283A>T (p.Asn95Tyr) rs2134430116
NM_004183.4(BEST1):c.287A>G (p.Gln96Arg) rs1225032182
NM_004183.4(BEST1):c.287A>T (p.Gln96Leu)
NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del) rs1555099048
NM_004183.4(BEST1):c.288G>C (p.Gln96His) rs281865226
NM_004183.4(BEST1):c.28G>A (p.Ala10Thr) rs281865206
NM_004183.4(BEST1):c.292G>A (p.Glu98Lys) rs2134430191
NM_004183.4(BEST1):c.293A>G (p.Glu98Gly)
NM_004183.4(BEST1):c.294G>C (p.Glu98Asp) rs1591283793
NM_004183.4(BEST1):c.295A>C (p.Asn99His) rs1591283811
NM_004183.4(BEST1):c.295A>G (p.Asn99Asp)
NM_004183.4(BEST1):c.295A>T (p.Asn99Tyr)
NM_004183.4(BEST1):c.297C>A (p.Asn99Lys) rs281865227
NM_004183.4(BEST1):c.297C>T (p.Asn99=)
NM_004183.4(BEST1):c.299T>C (p.Leu100Pro) rs281865228
NM_004183.4(BEST1):c.299T>G (p.Leu100Arg) rs281865228
NM_004183.4(BEST1):c.29C>T (p.Ala10Val) rs281865207
NM_004183.4(BEST1):c.301C>A (p.Pro101Thr) rs281865229
NM_004183.4(BEST1):c.302C>G (p.Pro101Arg) rs374517178
NM_004183.4(BEST1):c.304T>C (p.Trp102Arg) rs281865230
NM_004183.4(BEST1):c.310G>C (p.Asp104His) rs281865231
NM_004183.4(BEST1):c.312C>A (p.Asp104Glu) rs281865232
NM_004183.4(BEST1):c.313C>G (p.Arg105Gly) rs281865273
NM_004183.4(BEST1):c.316C>T (p.Leu106Phe) rs1818911095
NM_004183.4(BEST1):c.318C>A (p.Leu106=) rs2134430461
NM_004183.4(BEST1):c.321G>A (p.Met107Ile) rs1941260323
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg) rs1565388478
NM_004183.4(BEST1):c.324C>T (p.Ser108=) rs1565388478
NM_004183.4(BEST1):c.326T>C (p.Leu109Pro) rs1941260986
NM_004183.4(BEST1):c.32A>G (p.Asn11Ser) rs281865208
NM_004183.4(BEST1):c.32A>T (p.Asn11Ile) rs281865208
NM_004183.4(BEST1):c.334_340del (p.Gly112fs) rs1591284015
NM_004183.4(BEST1):c.335G>C (p.Gly112Ala)
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys) rs281865531
NM_004183.4(BEST1):c.340G>C (p.Val114Leu) rs2134430632
NM_004183.4(BEST1):c.342C>G (p.Val114=) rs1162944741
NM_004183.4(BEST1):c.351G>A (p.Lys117=) rs886048426
NM_004183.4(BEST1):c.352G>A (p.Asp118Asn) rs1400987360
NM_004183.4(BEST1):c.355G>A (p.Glu119Lys)
NM_004183.4(BEST1):c.35C>A (p.Ala12Asp)
NM_004183.4(BEST1):c.35C>G (p.Ala12Gly) rs1940692591
NM_004183.4(BEST1):c.35C>T (p.Ala12Val)
NM_004183.4(BEST1):c.360A>G (p.Gln120=)
NM_004183.4(BEST1):c.362G>C (p.Gly121Ala)
NM_004183.4(BEST1):c.364C>T (p.Arg122Trp)
NM_004183.4(BEST1):c.365G>C (p.Arg122Pro) rs767103810
NM_004183.4(BEST1):c.371T>A (p.Leu124Gln) rs2134430916
NM_004183.4(BEST1):c.37C>G (p.Arg13Gly) rs886041141
NM_004183.4(BEST1):c.385A>C (p.Ile129Leu) rs1941270968
NM_004183.4(BEST1):c.388C>T (p.Arg130Cys)
NM_004183.4(BEST1):c.38G>C (p.Arg13Pro) rs281865209
NM_004183.4(BEST1):c.391T>C (p.Tyr131His) rs1941271894
NM_004183.4(BEST1):c.396del (p.Asn133fs)
NM_004183.4(BEST1):c.39C>T (p.Arg13=)
NM_004183.4(BEST1):c.401T>C (p.Leu134Pro)
NM_004183.4(BEST1):c.403G>A (p.Gly135Ser) rs281865234
NM_004183.4(BEST1):c.419T>G (p.Leu140Arg) rs281865235
NM_004183.4(BEST1):c.41T>C (p.Leu14Ser)
NM_004183.4(BEST1):c.424_426dup (p.Ser142dup) rs1591284563
NM_004183.4(BEST1):c.427G>C (p.Val143Leu) rs1378679988
NM_004183.4(BEST1):c.427G>T (p.Val143Phe) rs1378679988
NM_004183.4(BEST1):c.428T>C (p.Val143Ala)
NM_004183.4(BEST1):c.431G>A (p.Ser144Asn)
NM_004183.4(BEST1):c.436G>A (p.Ala146Thr) rs1237501081
NM_004183.4(BEST1):c.436G>T (p.Ala146Ser) rs1237501081
NM_004183.4(BEST1):c.436_437delinsAA (p.Ala146Lys) rs1800995
NM_004183.4(BEST1):c.445A>T (p.Lys149Ter) rs281865274
NM_004183.4(BEST1):c.448C>G (p.Arg150Gly) rs1177798663
NM_004183.4(BEST1):c.448C>T (p.Arg150Cys) rs1177798663
NM_004183.4(BEST1):c.449G>A (p.Arg150His) rs1249897117
NM_004183.4(BEST1):c.44G>A (p.Gly15Asp) rs766379510
NM_004183.4(BEST1):c.454C>T (p.Pro152Ser)
NM_004183.4(BEST1):c.467A>G (p.His156Arg)
NM_004183.4(BEST1):c.46T>C (p.Ser16Pro)
NM_004183.4(BEST1):c.474G>C (p.Val158=)
NM_004183.4(BEST1):c.47C>A (p.Ser16Tyr) rs281865210
NM_004183.4(BEST1):c.47C>T (p.Ser16Phe) rs281865210
NM_004183.4(BEST1):c.481+11C>A
NM_004183.4(BEST1):c.481+11C>T
NM_004183.4(BEST1):c.481+12G>C rs888828739
NM_004183.4(BEST1):c.481+15A>G
NM_004183.4(BEST1):c.481+20C>T
NM_004183.4(BEST1):c.481+210C>T rs114450910
NM_004183.4(BEST1):c.481+7_481+28del
NM_004183.4(BEST1):c.482-8C>G
NM_004183.4(BEST1):c.49T>A (p.Phe17Ile) rs1940696088
NM_004183.4(BEST1):c.506A>G (p.Lys169Arg) rs2134437023
NM_004183.4(BEST1):c.508C>T (p.Gln170Ter)
NM_004183.4(BEST1):c.50T>A (p.Phe17Tyr) rs281865211
NM_004183.4(BEST1):c.50T>G (p.Phe17Cys) rs281865211
NM_004183.4(BEST1):c.50_52del (p.Phe17del) rs2134409356
NM_004183.4(BEST1):c.511T>C (p.Leu171=) rs2134437052
NM_004183.4(BEST1):c.514G>A (p.Glu172Lys)
NM_004183.4(BEST1):c.521T>C (p.Leu174Pro) rs1941425177
NM_004183.4(BEST1):c.522G>A (p.Leu174=) rs1302876995
NM_004183.4(BEST1):c.524del (p.Ser175fs)
NM_004183.4(BEST1):c.530C>T (p.Pro177Leu) rs1360056203
NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del) rs775979290
NM_004183.4(BEST1):c.534C>T (p.His178=) rs1591288952
NM_004183.4(BEST1):c.535A>G (p.Asn179Asp) rs1555099968
NM_004183.4(BEST1):c.539T>C (p.Met180Thr) rs1941427913
NM_004183.4(BEST1):c.544T>C (p.Trp182Arg) rs1565390925
NM_004183.4(BEST1):c.559T>G (p.Trp187Gly) rs1941429437
NM_004183.4(BEST1):c.564T>C (p.Phe188=)
NM_004183.4(BEST1):c.568A>T (p.Asn190Tyr)
NM_004183.4(BEST1):c.572T>C (p.Leu191Pro) rs1484152128
NM_004183.4(BEST1):c.575C>A (p.Ser192Ter)
NM_004183.4(BEST1):c.579_580insCATT (p.Lys194delinsHisTer) rs2134437355
NM_004183.4(BEST1):c.588G>T (p.Trp196Cys)
NM_004183.4(BEST1):c.589C>A (p.Leu197Ile) rs2134437464
NM_004183.4(BEST1):c.58C>G (p.Leu20Val) rs1591266379
NM_004183.4(BEST1):c.596G>A (p.Gly199Asp) rs1941434511
NM_004183.4(BEST1):c.599G>A (p.Arg200Gln)
NM_004183.4(BEST1):c.59T>C (p.Leu20Pro)
NM_004183.4(BEST1):c.60G>A (p.Leu20=) rs2134409489
NM_004183.4(BEST1):c.611C>G (p.Pro204Arg)
NM_004183.4(BEST1):c.614T>C (p.Ile205Thr) rs267606680
NM_004183.4(BEST1):c.618_619delinsAA (p.Leu207Ile) rs386754168
NM_004183.4(BEST1):c.61C>G (p.Leu21Val) rs281865212
NM_004183.4(BEST1):c.620T>A (p.Leu207His) rs1591289408
NM_004183.4(BEST1):c.626G>A (p.Ser209Asn) rs281865237
NM_004183.4(BEST1):c.626G>C (p.Ser209Thr)
NM_004183.4(BEST1):c.628C>T (p.Leu210=)
NM_004183.4(BEST1):c.62T>A (p.Leu21Gln) rs758726044
NM_004183.4(BEST1):c.62T>G (p.Leu21Arg)
NM_004183.4(BEST1):c.636+18A>C rs2134437913
NM_004183.4(BEST1):c.636+1G>C rs62637337
NM_004183.4(BEST1):c.636+1G>T
NM_004183.4(BEST1):c.637-18C>G rs116299220
NM_004183.4(BEST1):c.637-19C>T rs1237256525
NM_004183.4(BEST1):c.637-3C>A rs558768495
NM_004183.4(BEST1):c.637G>A (p.Glu213Lys)
NM_004183.4(BEST1):c.651G>T (p.Leu217Phe)
NM_004183.4(BEST1):c.652C>G (p.Arg218Gly) rs281865238
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.653G>T (p.Arg218Leu)
NM_004183.4(BEST1):c.654T>C (p.Arg218=) rs281865280
NM_004183.4(BEST1):c.655A>C (p.Thr219Pro)
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004183.4(BEST1):c.663T>G (p.Cys221Trp) rs281865240
NM_004183.4(BEST1):c.665G>A (p.Gly222Glu)
NM_004183.4(BEST1):c.665G>T (p.Gly222Val) rs281865241
NM_004183.4(BEST1):c.668A>C (p.His223Pro) rs2134440248
NM_004183.4(BEST1):c.66G>A (p.Leu22=) rs2134409545
NM_004183.4(BEST1):c.670C>A (p.Leu224Met) rs281865242
NM_004183.4(BEST1):c.671T>A (p.Leu224Gln) rs281865243
NM_004183.4(BEST1):c.671T>C (p.Leu224Pro) rs281865243
NM_004183.4(BEST1):c.671T>G (p.Leu224Arg) rs281865243
NM_004183.4(BEST1):c.675T>C (p.Tyr225=)
NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn) rs28941469
NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys) rs267606677
NM_004183.4(BEST1):c.681C>T (p.Tyr227=)
NM_004183.4(BEST1):c.682G>C (p.Asp228His) rs267606676
NM_004183.4(BEST1):c.684C>A (p.Asp228Glu)
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) rs1431752515
NM_004183.4(BEST1):c.686G>T (p.Trp229Leu)
NM_004183.4(BEST1):c.689T>C (p.Ile230Thr)
NM_004183.4(BEST1):c.691A>G (p.Ser231Gly)
NM_004183.4(BEST1):c.693T>A (p.Ser231Arg) rs281865244
NM_004183.4(BEST1):c.693T>G (p.Ser231Arg) rs281865244
NM_004183.4(BEST1):c.695T>G (p.Ile232Ser) rs1565392261
NM_004183.4(BEST1):c.69C>T (p.Cys23=) rs1465486114
NM_004183.4(BEST1):c.700C>G (p.Leu234Val) rs2134440476
NM_004183.4(BEST1):c.701T>A (p.Leu234Gln) rs1941501578
NM_004183.4(BEST1):c.701T>G (p.Leu234Arg) rs1941501578
NM_004183.4(BEST1):c.703G>A (p.Val235Met) rs281865245
NM_004183.4(BEST1):c.703G>C (p.Val235Leu) rs281865245
NM_004183.4(BEST1):c.703G>T (p.Val235Leu) rs281865245
NM_004183.4(BEST1):c.704T>C (p.Val235Ala) rs267606679
NM_004183.4(BEST1):c.707A>G (p.Tyr236Cys) rs121918291
NM_004183.4(BEST1):c.709A>T (p.Thr237Ser) rs2134440586
NM_004183.4(BEST1):c.710C>G (p.Thr237Arg) rs281865246
NM_004183.4(BEST1):c.712del (p.Gln238fs) rs1555100476
NM_004183.4(BEST1):c.713A>G (p.Gln238Arg) rs1941503926
NM_004183.4(BEST1):c.714+17T>C
NM_004183.4(BEST1):c.714+68_714+70del rs1435285978
NM_004183.4(BEST1):c.714+71T>A rs185387478
NM_004183.4(BEST1):c.715-10_715-9insACCTCCTCC rs750482181
NM_004183.4(BEST1):c.715-120A>G rs2668898
NM_004183.4(BEST1):c.715-12_715-11insTCCTCCTCC rs2134444482
NM_004183.4(BEST1):c.715-15_715-14insTCTCCTCCT rs1565393472
NM_004183.4(BEST1):c.715-173CAAA[10] rs71046754
NM_004183.4(BEST1):c.715-173CAAA[8] rs71046754
NM_004183.4(BEST1):c.715-173CAAA[9] rs71046754
NM_004183.4(BEST1):c.715-18TCC[10]
NM_004183.4(BEST1):c.715-18TCC[6] rs1805182
NM_004183.4(BEST1):c.715-18TCC[7] rs1805182
NM_004183.4(BEST1):c.715-18TCC[8] rs1805182
NM_004183.4(BEST1):c.715-18TCC[9] rs1805182
NM_004183.4(BEST1):c.715-18_715-17insTCCTCCTCC rs2134444286
NM_004183.4(BEST1):c.715-19_715-18insCCCTCCTCC
NM_004183.4(BEST1):c.715-4_715-3insTCCTCCTCT
NM_004183.4(BEST1):c.715G>A (p.Val239Met) rs121918290
NM_004183.4(BEST1):c.716T>C (p.Val239Ala) rs2134444811
NM_004183.4(BEST1):c.720G>C (p.Val240=) rs281865281
NM_004183.4(BEST1):c.722C>A (p.Thr241Asn) rs281865247
NM_004183.4(BEST1):c.723T>C (p.Thr241=) rs2134444859
NM_004183.4(BEST1):c.724G>A (p.Val242Met)
NM_004183.4(BEST1):c.725_726del (p.Val242fs) rs1941602345
NM_004183.4(BEST1):c.727G>A (p.Ala243Thr) rs137853905
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.72G>T (p.Trp24Cys) rs281865213
NM_004183.4(BEST1):c.737G>A (p.Ser246Asn) rs2134444981
NM_004183.4(BEST1):c.73C>T (p.Arg25Trp) rs281865214
NM_004183.4(BEST1):c.744C>A (p.Phe248Leu) rs2134445000
NM_004183.4(BEST1):c.745_747del (p.Leu249del)
NM_004183.4(BEST1):c.758T>C (p.Val253Ala)
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp) rs372989281
NM_004183.4(BEST1):c.764G>T (p.Arg255Leu) rs377370089
NM_004183.4(BEST1):c.767A>G (p.Gln256Arg) rs1420999724
NM_004183.4(BEST1):c.76G>A (p.Gly26Ser) rs2134409637
NM_004183.4(BEST1):c.774G>A (p.Leu258=) rs2134445166
NM_004183.4(BEST1):c.777_778insAA (p.Pro260fs) rs1591295182
NM_004183.4(BEST1):c.779del (p.Pro260fs) rs778645644
NM_004183.4(BEST1):c.77G>A (p.Gly26Asp) rs748684128
NM_004183.4(BEST1):c.78C>T (p.Gly26=) rs768284216
NM_004183.4(BEST1):c.797G>A (p.Gly266Asp) rs794727864
NM_004183.4(BEST1):c.79A>G (p.Ser27Gly) rs2134409684
NM_004183.4(BEST1):c.804G>A (p.Glu268=) rs778715415
NM_004183.4(BEST1):c.804G>C (p.Glu268Asp) rs778715415
NM_004183.4(BEST1):c.80G>A (p.Ser27Asn) rs1301396112
NM_004183.4(BEST1):c.810C>T (p.Asp270=) rs771924494
NM_004183.4(BEST1):c.811C>A (p.Leu271Ile) rs1308281595
NM_004183.4(BEST1):c.812T>C (p.Leu271Pro)
NM_004183.4(BEST1):c.814G>A (p.Val272Ile)
NM_004183.4(BEST1):c.815T>C (p.Val272Ala) rs536333519
NM_004183.4(BEST1):c.819G>T (p.Val273=) rs1941614432
NM_004183.4(BEST1):c.81C>G (p.Ser27Arg) rs281865216
NM_004183.4(BEST1):c.821C>A (p.Pro274His)
NM_004183.4(BEST1):c.826T>C (p.Phe276Leu)
NM_004183.4(BEST1):c.828C>G (p.Phe276Leu) rs281865248
NM_004183.4(BEST1):c.840G>A (p.Gln280=) rs2134445577
NM_004183.4(BEST1):c.842TCT[2] (p.Phe283del) rs281865532
NM_004183.4(BEST1):c.842_843delinsAG (p.Phe281Ter)
NM_004183.4(BEST1):c.848T>C (p.Phe283Ser)
NM_004183.4(BEST1):c.84C>T (p.Ile28=)
NM_004183.4(BEST1):c.850T>C (p.Tyr284His)
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) rs727503824
NM_004183.4(BEST1):c.851A>T (p.Tyr284Phe) rs727503824
NM_004183.4(BEST1):c.851_852del (p.Tyr284fs)
NM_004183.4(BEST1):c.852T>C (p.Tyr284=)
NM_004183.4(BEST1):c.854T>A (p.Val285Asp) rs376577490
NM_004183.4(BEST1):c.85T>C (p.Tyr29His) rs281865217
NM_004183.4(BEST1):c.867+131G>A
NM_004183.4(BEST1):c.867+13A>G rs1346516529
NM_004183.4(BEST1):c.867+177G>A
NM_004183.4(BEST1):c.867+97G>A
NM_004183.4(BEST1):c.867+97G>T rs554725612
NM_004183.4(BEST1):c.867G>A (p.Lys289=) rs778383234
NM_004183.4(BEST1):c.868-1G>A rs2134453079
NM_004183.4(BEST1):c.868-99G>T rs195158
NM_004183.4(BEST1):c.868-9G>A
NM_004183.4(BEST1):c.869T>C (p.Val290Ala)
NM_004183.4(BEST1):c.86A>G (p.Tyr29Cys) rs1565382549
NM_004183.4(BEST1):c.86_89dup (p.Leu31fs)
NM_004183.4(BEST1):c.874G>A (p.Glu292Lys) rs886039311
NM_004183.4(BEST1):c.874G>C (p.Glu292Gln) rs886039311
NM_004183.4(BEST1):c.877C>A (p.Gln293Lys) rs281865250
NM_004183.4(BEST1):c.879G>C (p.Gln293His) rs2134453127
NM_004183.4(BEST1):c.87C>T (p.Tyr29=) rs121918285
NM_004183.4(BEST1):c.880C>G (p.Leu294Val) rs281865251
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del) rs121918283
NM_004183.4(BEST1):c.883A>C (p.Ile295Leu) rs777320382
NM_004183.4(BEST1):c.883A>G (p.Ile295Val) rs777320382
NM_004183.4(BEST1):c.884T>C (p.Ile295Thr) rs281865253
NM_004183.4(BEST1):c.886A>C (p.Asn296His) rs281865254
NM_004183.4(BEST1):c.886A>G (p.Asn296Asp)
NM_004183.4(BEST1):c.887A>G (p.Asn296Ser) rs281865255
NM_004183.4(BEST1):c.888C>A (p.Asn296Lys) rs1554963058
NM_004183.4(BEST1):c.888C>G (p.Asn296Lys) rs1554963058
NM_004183.4(BEST1):c.889C>G (p.Pro297Ala) rs1805143
NM_004183.4(BEST1):c.890C>A (p.Pro297His) rs2134453263
NM_004183.4(BEST1):c.893T>C (p.Phe298Ser) rs281865257
NM_004183.4(BEST1):c.895G>A (p.Gly299Arg)
NM_004183.4(BEST1):c.896G>A (p.Gly299Glu) rs28941468
NM_004183.4(BEST1):c.898G>A (p.Glu300Lys) rs281865258
NM_004183.4(BEST1):c.8T>A (p.Ile3Asn) rs907161461
NM_004183.4(BEST1):c.900G>C (p.Glu300Asp) rs1805144
NM_004183.4(BEST1):c.901G>A (p.Asp301Asn) rs281865259
NM_004183.4(BEST1):c.901G>C (p.Asp301His)
NM_004183.4(BEST1):c.901GAT[3] (p.Asp304del) rs281865260
NM_004183.4(BEST1):c.902A>G (p.Asp301Gly) rs2134453358
NM_004183.4(BEST1):c.903T>G (p.Asp301Glu) rs281865261
NM_004183.4(BEST1):c.904G>A (p.Asp302Asn) rs281865262
NM_004183.4(BEST1):c.904G>C (p.Asp302His) rs281865262
NM_004183.4(BEST1):c.905A>C (p.Asp302Ala) rs281865263
NM_004183.4(BEST1):c.905A>G (p.Asp302Gly) rs281865263
NM_004183.4(BEST1):c.905A>T (p.Asp302Val) rs281865263
NM_004183.4(BEST1):c.906T>A (p.Asp302Glu) rs2134453407
NM_004183.4(BEST1):c.907G>T (p.Asp303Tyr) rs1941816094
NM_004183.4(BEST1):c.908A>T (p.Asp303Val) rs1591301548
NM_004183.4(BEST1):c.909T>A (p.Asp303Glu) rs281865264
NM_004183.4(BEST1):c.910G>A (p.Asp304Asn) rs1554963095
NM_004183.4(BEST1):c.912T>G (p.Asp304Glu) rs1941817289
NM_004183.4(BEST1):c.914T>C (p.Phe305Ser) rs281865265
NM_004183.4(BEST1):c.915T>G (p.Phe305Leu) rs1565036465
NM_004183.4(BEST1):c.916G>C (p.Glu306Gln) rs2134453498
NM_004183.4(BEST1):c.917A>G (p.Glu306Gly) rs281865266
NM_004183.4(BEST1):c.918G>C (p.Glu306Asp) rs281865267
NM_004183.4(BEST1):c.918G>T (p.Glu306Asp)
NM_004183.4(BEST1):c.919A>G (p.Thr307Ala) rs281865268
NM_004183.4(BEST1):c.920C>A (p.Thr307Asn)
NM_004183.4(BEST1):c.920C>T (p.Thr307Ile) rs281865269
NM_004183.4(BEST1):c.923A>G (p.Asn308Ser) rs281865270
NM_004183.4(BEST1):c.925T>C (p.Trp309Arg)
NM_004183.4(BEST1):c.929T>C (p.Ile310Thr) rs281865271
NM_004183.4(BEST1):c.92T>G (p.Leu31Arg)
NM_004183.4(BEST1):c.936_940dup (p.Asn314fs)
NM_004183.4(BEST1):c.938G>A (p.Arg313Lys)
NM_004183.4(BEST1):c.939G>C (p.Arg313Ser) rs1941821943
NM_004183.4(BEST1):c.93G>A (p.Leu31=) rs1011302811
NM_004183.4(BEST1):c.948+10G>A rs2134453772
NM_004183.4(BEST1):c.948+16G>A
NM_004183.4(BEST1):c.948+1_948+2delinsTA rs2134453733
NM_004183.4(BEST1):c.948+8G>A
NM_004183.4(BEST1):c.949-14T>C
NM_004183.4(BEST1):c.949-17_949-16del rs774668020
NM_004183.4(BEST1):c.949-21del rs62640560
NM_004183.4(BEST1):c.949-8G>C
NM_004183.4(BEST1):c.949G>A (p.Val317Met) rs121918287
NM_004183.4(BEST1):c.949G>T (p.Val317Leu) rs121918287
NM_004183.4(BEST1):c.953C>A (p.Ser318Tyr) rs267603070
NM_004183.4(BEST1):c.956T>C (p.Leu319Pro) rs1554963305
NM_004183.4(BEST1):c.95T>C (p.Leu32Pro) rs1591266591
NM_004183.4(BEST1):c.963T>C (p.Ala321=)
NM_004183.4(BEST1):c.968A>T (p.Asp323Val) rs752756768
NM_004183.4(BEST1):c.969T>A (p.Asp323Glu) rs1941875734
NM_004183.4(BEST1):c.970G>T (p.Glu324Ter)
NM_004183.4(BEST1):c.971_975del (p.Glu324fs)
NM_004183.4(BEST1):c.97T>G (p.Tyr33Asp) rs994248373
NM_004183.4(BEST1):c.986T>C (p.Leu329Pro) rs747224737
NM_004183.4(BEST1):c.992G>C (p.Arg331Pro) rs201386186
NM_004183.4(BEST1):c.994del (p.Met332fs) rs1941880096

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