ClinVar Miner

List of variants in gene BEST1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 615
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_004183.4(BEST1):c.696C>A (p.Ile232=) rs1805140 0.03928
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393 0.01850
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.868-17C>A rs148662546 0.00324
NM_004183.4(BEST1):c.213C>T (p.Ser71=) rs57132800 0.00289
NM_004183.4(BEST1):c.637-6C>T rs62639356 0.00147
NM_004183.4(BEST1):c.624G>A (p.Gln208=) rs150247275 0.00114
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.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.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.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_004183.4(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.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.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.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_004183.4(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.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.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.274C>A (p.Arg92Ser) rs281865224 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.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.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.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_004183.4(BEST1):c.-37+5G>A
NM_004183.4(BEST1):c.1002G>A (p.Pro334=) rs372081341
NM_004183.4(BEST1):c.1012T>A (p.Trp338Arg)
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.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.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.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+4T>C
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.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.1175G>A (p.Arg392His)
NM_004183.4(BEST1):c.1180C>T (p.Leu394=) rs2134468496
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.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.133A>G (p.Ile45Val)
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.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>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.140G>T (p.Arg47Leu)
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.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.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.153-18C>A rs568192399
NM_004183.4(BEST1):c.153-22CCACCC[2] rs398124110
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.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.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.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.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.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.16A>G (p.Thr6Ala) rs28940275
NM_004183.4(BEST1):c.1704dup (p.Asp569fs)
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.172_173dup (p.Gln58fs) rs672601356
NM_004183.4(BEST1):c.1739+13C>T
NM_004183.4(BEST1):c.1739+14del
NM_004183.4(BEST1):c.1739+19C>A
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.1740-2A>C rs1190983296
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.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.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.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.248-17C>T
NM_004183.4(BEST1):c.248-1G>A rs2134429776
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>C (p.Val9Leu) rs28940276
NM_004183.4(BEST1):c.268G>A (p.Val90Met) rs1343490048
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.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.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>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>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.310G>C (p.Asp104His) rs281865231
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>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.334_340del (p.Gly112fs) rs1591284015
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.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>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.371T>A (p.Leu124Gln) rs2134430916
NM_004183.4(BEST1):c.385A>C (p.Ile129Leu) rs1941270968
NM_004183.4(BEST1):c.388C>T (p.Arg130Cys)
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.41T>C (p.Leu14Ser)
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.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+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.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.533ACA[1] (p.Asn179del) rs775979290
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.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>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.655A>C (p.Thr219Pro)
NM_004183.4(BEST1):c.663T>G (p.Cys221Trp) rs281865240
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.671T>C (p.Leu224Pro) rs281865243
NM_004183.4(BEST1):c.671T>G (p.Leu224Arg) rs281865243
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>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.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>T (p.Val235Leu) rs281865245
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.713A>G (p.Gln238Arg) rs1941503926
NM_004183.4(BEST1):c.714+17T>C
NM_004183.4(BEST1):c.715-10_715-9insACCTCCTCC rs750482181
NM_004183.4(BEST1):c.715-15_715-14insTCTCCTCCT rs1565393472
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.715-19_715-18insCCCTCCTCC
NM_004183.4(BEST1):c.715-4_715-3insTCCTCCTCT
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.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.80G>A (p.Ser27Asn) rs1301396112
NM_004183.4(BEST1):c.810C>T (p.Asp270=) rs771924494
NM_004183.4(BEST1):c.812T>C (p.Leu271Pro)
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.821C>A (p.Pro274His)
NM_004183.4(BEST1):c.826T>C (p.Phe276Leu)
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.851_852del (p.Tyr284fs)
NM_004183.4(BEST1):c.852T>C (p.Tyr284=)
NM_004183.4(BEST1):c.867+13A>G rs1346516529
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.868-9G>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.877C>A (p.Gln293Lys) rs281865250
NM_004183.4(BEST1):c.879G>C (p.Gln293His) rs2134453127
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.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.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.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>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.909T>A (p.Asp303Glu) rs281865264
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.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.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.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.949-8G>C
NM_004183.4(BEST1):c.953C>A (p.Ser318Tyr) rs267603070
NM_004183.4(BEST1):c.95T>C (p.Leu32Pro) rs1591266591
NM_004183.4(BEST1):c.963T>C (p.Ala321=)
NM_004183.4(BEST1):c.970G>T (p.Glu324Ter)
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.