ClinVar Miner

List of variants in gene FIG4 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 396
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.-132A>G rs548471516 0.00150
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_014845.6(FIG4):c.2459+5G>A rs367944508 0.00038
NM_014845.6(FIG4):c.730C>T (p.Arg244Cys) rs138376077 0.00031
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_014845.6(FIG4):c.2460-8A>G rs201965891 0.00022
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_014845.6(FIG4):c.328A>G (p.Ile110Val) rs140331779 0.00018
NM_014845.6(FIG4):c.-138T>C rs550585093 0.00016
NM_014845.6(FIG4):c.1348C>T (p.Arg450Cys) rs201072058 0.00014
NM_014845.6(FIG4):c.-84A>G rs764845399 0.00013
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) rs540674198 0.00013
NM_014845.6(FIG4):c.1271+5A>G rs374583399 0.00012
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) rs551339249 0.00009
NM_014845.6(FIG4):c.-112G>A rs757848529 0.00008
NM_014845.6(FIG4):c.101C>T (p.Thr34Met) rs375691683 0.00008
NM_014845.6(FIG4):c.1804G>A (p.Glu602Lys) rs143184413 0.00008
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_014845.6(FIG4):c.2096G>A (p.Arg699His) rs750091928 0.00007
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile) rs146689226 0.00007
NM_014845.6(FIG4):c.498-13A>G rs199891240 0.00007
NM_014845.6(FIG4):c.1187C>G (p.Ala396Gly) rs758599286 0.00006
NM_014845.6(FIG4):c.1544T>C (p.Ile515Thr) rs370249754 0.00006
NM_014845.6(FIG4):c.1880C>A (p.Thr627Lys) rs770831509 0.00006
NM_014845.6(FIG4):c.535C>T (p.Leu179Phe) rs141116831 0.00006
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_014845.6(FIG4):c.923C>T (p.Ala308Val) rs180689715 0.00006
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys) rs368625871 0.00005
NM_014845.6(FIG4):c.2096+3A>G rs374223402 0.00005
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys) rs372846619 0.00005
NM_014845.6(FIG4):c.53A>G (p.Tyr18Cys) rs762687855 0.00005
NM_014845.6(FIG4):c.584A>T (p.Gln195Leu) rs749696803 0.00005
NM_014845.6(FIG4):c.829A>T (p.Ser277Cys) rs892208077 0.00005
NM_014845.6(FIG4):c.1091T>A (p.Met364Lys) rs772677048 0.00004
NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu) rs769415369 0.00004
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg) rs201742496 0.00004
NM_014845.6(FIG4):c.1601A>G (p.Tyr534Cys) rs749672655 0.00004
NM_014845.6(FIG4):c.2080A>G (p.Met694Val) rs143531641 0.00004
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys) rs764799053 0.00004
NM_014845.6(FIG4):c.2147G>A (p.Arg716His) rs758496638 0.00004
NM_014845.6(FIG4):c.2323C>T (p.Arg775Cys) rs745511182 0.00004
NM_014845.6(FIG4):c.266C>T (p.Ala89Val) rs763532414 0.00004
NM_014845.6(FIG4):c.2704A>G (p.Ile902Val) rs143685038 0.00004
NM_014845.6(FIG4):c.33G>C (p.Ser11=) rs527523781 0.00004
NM_014845.6(FIG4):c.422G>A (p.Arg141Gln) rs762663195 0.00004
NM_014845.6(FIG4):c.446+4T>A rs956953729 0.00004
NM_014845.6(FIG4):c.446+5G>C rs370857139 0.00004
NM_014845.6(FIG4):c.794G>A (p.Arg265Gln) rs768713956 0.00004
NM_014845.5(FIG4):c.-152C>A rs1408966015 0.00003
NM_014845.6(FIG4):c.136C>T (p.Pro46Ser) rs1260601343 0.00003
NM_014845.6(FIG4):c.14C>T (p.Ala5Val) rs915749340 0.00003
NM_014845.6(FIG4):c.1990T>C (p.Phe664Leu) rs370602258 0.00003
NM_014845.6(FIG4):c.2035C>T (p.Arg679Trp) rs188910818 0.00003
NM_014845.6(FIG4):c.2146C>T (p.Arg716Cys) rs139235893 0.00003
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 0.00003
NM_014845.6(FIG4):c.2376+5G>A rs528952794 0.00003
NM_014845.6(FIG4):c.243A>G (p.Lys81=) rs200257799 0.00003
NM_014845.6(FIG4):c.2459+1G>A rs747768373 0.00003
NM_014845.6(FIG4):c.2547-11A>G rs745613994 0.00003
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu) rs200970494 0.00003
NM_014845.6(FIG4):c.382G>A (p.Glu128Lys) rs769125243 0.00003
NM_014845.6(FIG4):c.421C>T (p.Arg141Trp) rs750102036 0.00003
NM_014845.6(FIG4):c.815T>C (p.Ile272Thr) rs765737780 0.00003
NM_014845.6(FIG4):c.872G>A (p.Cys291Tyr) rs766829595 0.00003
NM_014845.6(FIG4):c.919G>A (p.Asp307Asn) rs573441014 0.00003
NM_014845.6(FIG4):c.107A>G (p.Tyr36Cys) rs760770423 0.00002
NM_014845.6(FIG4):c.1313A>G (p.Glu438Gly) rs535554973 0.00002
NM_014845.6(FIG4):c.1376G>A (p.Arg459Gln) rs141309562 0.00002
NM_014845.6(FIG4):c.1427G>A (p.Arg476His) rs192823053 0.00002
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys) rs747284213 0.00002
NM_014845.6(FIG4):c.1482C>T (p.Asn494=) rs776928002 0.00002
NM_014845.6(FIG4):c.1728A>G (p.Arg576=) rs1006163300 0.00002
NM_014845.6(FIG4):c.1769C>T (p.Ser590Phe) rs773166475 0.00002
NM_014845.6(FIG4):c.2113A>G (p.Thr705Ala) rs766031746 0.00002
NM_014845.6(FIG4):c.2405A>G (p.Tyr802Cys) rs370293982 0.00002
NM_014845.6(FIG4):c.2449A>G (p.Ile817Val) rs781056036 0.00002
NM_014845.6(FIG4):c.2547-4A>G rs886060985 0.00002
NM_014845.6(FIG4):c.2599A>G (p.Arg867Gly) rs533419433 0.00002
NM_014845.6(FIG4):c.2661dup (p.Gln888fs) rs778839285 0.00002
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) rs764958115 0.00002
NM_014845.6(FIG4):c.2705T>C (p.Ile902Thr) rs1162967341 0.00002
NM_014845.6(FIG4):c.321T>G (p.Ile107Met) rs372854425 0.00002
NM_014845.6(FIG4):c.469G>A (p.Val157Met) rs1455052760 0.00002
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro) rs587777713 0.00002
NM_014845.6(FIG4):c.645C>T (p.Ser215=) rs751619327 0.00002
NM_014845.6(FIG4):c.731G>A (p.Arg244His) rs768175169 0.00002
NM_014845.6(FIG4):c.809C>T (p.Thr270Ile) rs762123072 0.00002
NM_014845.6(FIG4):c.877-2A>C rs143956557 0.00002
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys) rs587777714 0.00002
NM_014845.6(FIG4):c.974G>C (p.Arg325Thr) rs1060501400 0.00002
NM_014845.6(FIG4):c.-124A>G rs544958043 0.00001
NM_014845.6(FIG4):c.-134C>G rs560811735 0.00001
NM_014845.6(FIG4):c.1039+3G>A rs760007124 0.00001
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631 0.00001
NM_014845.6(FIG4):c.1051G>C (p.Asp351His) rs879253941 0.00001
NM_014845.6(FIG4):c.1064A>G (p.His355Arg) rs772356514 0.00001
NM_014845.6(FIG4):c.110G>A (p.Arg37His) rs192324110 0.00001
NM_014845.6(FIG4):c.1122C>G (p.Ile374Met) rs1376239309 0.00001
NM_014845.6(FIG4):c.1137+5G>T rs746766125 0.00001
NM_014845.6(FIG4):c.1165A>G (p.Ile389Val) rs765216035 0.00001
NM_014845.6(FIG4):c.116T>C (p.Leu39Ser) rs373630745 0.00001
NM_014845.6(FIG4):c.121A>G (p.Ile41Val) rs1775389277 0.00001
NM_014845.6(FIG4):c.1228A>G (p.Thr410Ala) rs142463699 0.00001
NM_014845.6(FIG4):c.125A>G (p.Asp42Gly) rs780739049 0.00001
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp) rs1255518113 0.00001
NM_014845.6(FIG4):c.1338C>G (p.Phe446Leu) rs1353768172 0.00001
NM_014845.6(FIG4):c.1375C>T (p.Arg459Trp) rs1220742669 0.00001
NM_014845.6(FIG4):c.1432C>G (p.Gln478Glu) rs1331703765 0.00001
NM_014845.6(FIG4):c.1434G>A (p.Gln478=) rs1430381590 0.00001
NM_014845.6(FIG4):c.1490A>T (p.Gln497Leu) rs748473120 0.00001
NM_014845.6(FIG4):c.1555A>G (p.Asn519Asp) rs374129146 0.00001
NM_014845.6(FIG4):c.155T>C (p.Ile52Thr) rs754533235 0.00001
NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter) rs776090013 0.00001
NM_014845.6(FIG4):c.1750+3A>G rs758390500 0.00001
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr) rs751399063 0.00001
NM_014845.6(FIG4):c.180A>G (p.Gln60=) rs376730932 0.00001
NM_014845.6(FIG4):c.1834A>G (p.Thr612Ala) rs758695444 0.00001
NM_014845.6(FIG4):c.1838A>G (p.Asp613Gly) rs1243225247 0.00001
NM_014845.6(FIG4):c.1949-10T>G rs896444437 0.00001
NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn) rs774499394 0.00001
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser) rs745860370 0.00001
NM_014845.6(FIG4):c.2036G>A (p.Arg679Gln) rs192447225 0.00001
NM_014845.6(FIG4):c.2042A>G (p.Tyr681Cys) rs554382573 0.00001
NM_014845.6(FIG4):c.2069T>C (p.Phe690Ser) rs1237449502 0.00001
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile) rs754830354 0.00001
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met) rs1274229885 0.00001
NM_014845.6(FIG4):c.2240C>T (p.Pro747Leu) rs1266127215 0.00001
NM_014845.6(FIG4):c.2256G>C (p.Glu752Asp) rs375960403 0.00001
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp) rs552937585 0.00001
NM_014845.6(FIG4):c.2308G>A (p.Gly770Ser) rs779329699 0.00001
NM_014845.6(FIG4):c.2339A>G (p.Lys780Arg) rs373590484 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_014845.6(FIG4):c.244G>A (p.Gly82Arg) rs774546266 0.00001
NM_014845.6(FIG4):c.2464G>C (p.Val822Leu) rs1208125100 0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) rs745790694 0.00001
NM_014845.6(FIG4):c.2469G>T (p.Gln823His) rs768773104 0.00001
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu) rs768384237 0.00001
NM_014845.6(FIG4):c.2547-1G>A rs769858739 0.00001
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) rs201375273 0.00001
NM_014845.6(FIG4):c.2558C>T (p.Ser853Leu) rs774805375 0.00001
NM_014845.6(FIG4):c.2617A>C (p.Thr873Pro) rs199765196 0.00001
NM_014845.6(FIG4):c.2654G>T (p.Gly885Val) rs550030053 0.00001
NM_014845.6(FIG4):c.2660T>C (p.Met887Thr) rs780643086 0.00001
NM_014845.6(FIG4):c.2687C>G (p.Ser896Cys) rs776236607 0.00001
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter) rs750069994 0.00001
NM_014845.6(FIG4):c.2713C>T (p.Arg905Cys) rs754970037 0.00001
NM_014845.6(FIG4):c.290-2A>T rs587777715 0.00001
NM_014845.6(FIG4):c.353A>G (p.Asp118Gly) rs771093157 0.00001
NM_014845.6(FIG4):c.374A>G (p.Tyr125Cys) rs145466148 0.00001
NM_014845.6(FIG4):c.396G>A (p.Met132Ile) rs1775847696 0.00001
NM_014845.6(FIG4):c.521C>T (p.Ser174Leu) rs775391378 0.00001
NM_014845.6(FIG4):c.52T>C (p.Tyr18His) rs1774396046 0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) rs121908288 0.00001
NM_014845.6(FIG4):c.548G>A (p.Arg183Gln) rs781588508 0.00001
NM_014845.6(FIG4):c.559G>A (p.Glu187Lys) rs370115339 0.00001
NM_014845.6(FIG4):c.589C>T (p.Arg197Cys) rs770528195 0.00001
NM_014845.6(FIG4):c.641G>A (p.Gly214Glu) rs1776128339 0.00001
NM_014845.6(FIG4):c.685G>A (p.Val229Ile) rs779593250 0.00001
NM_014845.6(FIG4):c.764G>A (p.Cys255Tyr) rs1776227536 0.00001
NM_014845.6(FIG4):c.776A>C (p.Lys259Thr) rs1045259801 0.00001
NM_014845.6(FIG4):c.788A>G (p.Tyr263Cys) rs370148297 0.00001
NM_014845.6(FIG4):c.80T>C (p.Val27Ala) rs769687105 0.00001
NM_014845.6(FIG4):c.827C>T (p.Ser276Phe) rs1311885951 0.00001
NC_000006.11:g.(?_110012639)_(110098283_?)dup
NC_000006.11:g.(?_110106153)_(110113887_?)del
NC_000006.11:g.(?_110106153)_(110146468_?)dup
NC_000006.11:g.(?_110117948)_(110118074_?)dup
NC_000006.12:g.(?_109825078)_(109825275_?)del
NM_014845.6(FIG4):c.*150_*151del rs886060986
NM_014845.6(FIG4):c.1012A>G (p.Thr338Ala)
NM_014845.6(FIG4):c.1012A>T (p.Thr338Ser) rs771265385
NM_014845.6(FIG4):c.1015A>G (p.Met339Val) rs2128386978
NM_014845.6(FIG4):c.1039+5G>T
NM_014845.6(FIG4):c.1039+6T>C
NM_014845.6(FIG4):c.1066G>A (p.Val356Met)
NM_014845.6(FIG4):c.1073C>G (p.Ala358Gly) rs776185371
NM_014845.6(FIG4):c.1085A>T (p.Asp362Val) rs1776394936
NM_014845.6(FIG4):c.1090A>C (p.Met364Leu) rs2295837
NM_014845.6(FIG4):c.1097A>G (p.Gln366Arg)
NM_014845.6(FIG4):c.1101G>T (p.Arg367Ser)
NM_014845.6(FIG4):c.1112C>G (p.Pro371Arg) rs2128387082
NM_014845.6(FIG4):c.1116C>G (p.Ile372Met) rs754932535
NM_014845.6(FIG4):c.112G>A (p.Val38Ile) rs761940298
NM_014845.6(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer) rs1583695317
NM_014845.6(FIG4):c.1149_1150delinsT (p.Lys383fs) rs1583695328
NM_014845.6(FIG4):c.1163G>T (p.Arg388Ile) rs2128391017
NM_014845.6(FIG4):c.1181TTG[1] (p.Val395del) rs1777062850
NM_014845.6(FIG4):c.1187C>T (p.Ala396Val) rs758599286
NM_014845.6(FIG4):c.1199A>G (p.Tyr400Cys) rs755232396
NM_014845.6(FIG4):c.120G>T (p.Lys40Asn) rs1346518731
NM_014845.6(FIG4):c.1224G>T (p.Glu408Asp)
NM_014845.6(FIG4):c.1225C>A (p.His409Asn) rs748995164
NM_014845.6(FIG4):c.1225C>T (p.His409Tyr) rs748995164
NM_014845.6(FIG4):c.1231A>G (p.Ile411Val)
NM_014845.6(FIG4):c.1232T>C (p.Ile411Thr)
NM_014845.6(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.6(FIG4):c.1270A>G (p.Ser424Gly) rs1777066450
NM_014845.6(FIG4):c.1272-10C>G rs201293291
NM_014845.6(FIG4):c.1272-3C>T
NM_014845.6(FIG4):c.1274A>G (p.Lys425Arg) rs2128391428
NM_014845.6(FIG4):c.1312G>A (p.Glu438Lys) rs2128391437
NM_014845.6(FIG4):c.1316G>A (p.Ser439Asn)
NM_014845.6(FIG4):c.131C>T (p.Thr44Ile) rs375629140
NM_014845.6(FIG4):c.1349G>A (p.Arg450His) rs188547769
NM_014845.6(FIG4):c.1349G>T (p.Arg450Leu) rs188547769
NM_014845.6(FIG4):c.1355A>G (p.Asp452Gly) rs1777129902
NM_014845.6(FIG4):c.1363T>G (p.Cys455Gly) rs1012991465
NM_014845.6(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.6(FIG4):c.137C>G (p.Pro46Arg) rs1562642404
NM_014845.6(FIG4):c.1388+5G>T rs200730266
NM_014845.6(FIG4):c.1388+8T>A rs1255543487
NM_014845.6(FIG4):c.1424G>A (p.Gly475Asp) rs1777192183
NM_014845.6(FIG4):c.1435A>G (p.Thr479Ala)
NM_014845.6(FIG4):c.1504A>G (p.Lys502Glu)
NM_014845.6(FIG4):c.1548C>G (p.Asp516Glu)
NM_014845.6(FIG4):c.1557T>G (p.Asn519Lys)
NM_014845.6(FIG4):c.1571C>T (p.Thr524Ile)
NM_014845.6(FIG4):c.1574A>G (p.Asp525Gly)
NM_014845.6(FIG4):c.157G>A (p.Asp53Asn) rs121908290
NM_014845.6(FIG4):c.1583+3A>G rs866431185
NM_014845.6(FIG4):c.1584-3T>C
NM_014845.6(FIG4):c.1658G>C (p.Arg553Pro) rs1422048624
NM_014845.6(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.6(FIG4):c.1679T>C (p.Ile560Thr)
NM_014845.6(FIG4):c.16G>T (p.Ala6Ser) rs868101103
NM_014845.6(FIG4):c.1708A>G (p.Ile570Val)
NM_014845.6(FIG4):c.170T>A (p.Val57Asp) rs1775432556
NM_014845.6(FIG4):c.1712T>G (p.Met571Arg) rs2128392626
NM_014845.6(FIG4):c.1752T>A (p.Asp584Glu) rs1060501402
NM_014845.6(FIG4):c.175A>G (p.Thr59Ala) rs748869342
NM_014845.6(FIG4):c.1763A>G (p.Gln588Arg) rs1562677647
NM_014845.6(FIG4):c.1765G>C (p.Asp589His) rs1777637029
NM_014845.6(FIG4):c.1794C>A (p.Phe598Leu) rs1777638116
NM_014845.6(FIG4):c.1799C>T (p.Pro600Leu)
NM_014845.6(FIG4):c.1801A>G (p.Thr601Ala) rs986837200
NM_014845.6(FIG4):c.1802C>T (p.Thr601Ile) rs1777638670
NM_014845.6(FIG4):c.1808G>A (p.Gly603Glu) rs754127221
NM_014845.6(FIG4):c.1823G>T (p.Trp608Leu) rs1375864580
NM_014845.6(FIG4):c.182A>G (p.Gln61Arg) rs1775433375
NM_014845.6(FIG4):c.1835C>T (p.Thr612Ile) rs780595685
NM_014845.6(FIG4):c.183A>G (p.Gln61=) rs1775433473
NM_014845.6(FIG4):c.1870C>T (p.Leu624Phe) rs1777642023
NM_014845.6(FIG4):c.1877C>T (p.Pro626Leu) rs772937400
NM_014845.6(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.6(FIG4):c.1887A>C (p.Arg629Ser) rs1399283870
NM_014845.6(FIG4):c.1889+9C>T rs1777643262
NM_014845.6(FIG4):c.1890-14T>G rs1562682595
NM_014845.6(FIG4):c.1913A>G (p.Glu638Gly)
NM_014845.6(FIG4):c.1931C>A (p.Pro644Gln)
NM_014845.6(FIG4):c.1948+3A>T
NM_014845.6(FIG4):c.1949-10T>A rs896444437
NM_014845.6(FIG4):c.1949-10TC[2]
NM_014845.6(FIG4):c.1949-6_1949-3del
NM_014845.6(FIG4):c.1952T>C (p.Ile651Thr) rs2128396248
NM_014845.6(FIG4):c.1954T>C (p.Cys652Arg)
NM_014845.6(FIG4):c.1978A>T (p.Ile660Leu) rs1777954967
NM_014845.6(FIG4):c.1981G>T (p.Val661Leu)
NM_014845.6(FIG4):c.1986dup (p.Lys663fs) rs1197741113
NM_014845.6(FIG4):c.1995C>G (p.His665Gln)
NM_014845.6(FIG4):c.1996A>G (p.Lys666Glu) rs781038961
NM_014845.6(FIG4):c.1999T>C (p.Tyr667His) rs1777955968
NM_014845.6(FIG4):c.19C>T (p.Pro7Ser) rs1367256224
NM_014845.6(FIG4):c.2011A>G (p.Ile671Val) rs1554307877
NM_014845.6(FIG4):c.2031C>G (p.Phe677Leu)
NM_014845.6(FIG4):c.2047T>G (p.Leu683Val) rs761084217
NM_014845.6(FIG4):c.2052C>A (p.Ser684Arg) rs183958565
NM_014845.6(FIG4):c.2066C>A (p.Thr689Asn) rs1470703929
NM_014845.6(FIG4):c.206G>A (p.Arg69His)
NM_014845.6(FIG4):c.2080A>C (p.Met694Leu)
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2098G>T (p.Asp700Tyr) rs1554308483
NM_014845.6(FIG4):c.2116G>T (p.Val706Phe) rs754830354
NM_014845.6(FIG4):c.2149A>G (p.Lys717Glu) rs1259009213
NM_014845.6(FIG4):c.2152C>G (p.Pro718Ala) rs199801181
NM_014845.6(FIG4):c.2177T>G (p.Leu726Trp) rs1778084158
NM_014845.6(FIG4):c.2180+3A>G rs1778084325
NM_014845.6(FIG4):c.2181-10C>A rs1583740892
NM_014845.6(FIG4):c.2183A>G (p.Asn728Ser) rs1778129763
NM_014845.6(FIG4):c.2192A>G (p.Asn731Ser) rs1467094847
NM_014845.6(FIG4):c.2201A>G (p.Glu734Gly)
NM_014845.6(FIG4):c.2204C>G (p.Ala735Gly) rs2128397245
NM_014845.6(FIG4):c.2215C>T (p.Arg739Trp) rs773877685
NM_014845.6(FIG4):c.2223G>T (p.Thr741=) rs181012139
NM_014845.6(FIG4):c.2242C>T (p.Pro748Ser)
NM_014845.6(FIG4):c.2260G>A (p.Val754Met) rs200691981
NM_014845.6(FIG4):c.2296C>G (p.Arg766Gly) rs552937585
NM_014845.6(FIG4):c.2297G>A (p.Arg766Gln)
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383
NM_014845.6(FIG4):c.2324G>A (p.Arg775His) rs775280287
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys) rs760215765
NM_014845.6(FIG4):c.2329A>C (p.Thr777Pro) rs1778137467
NM_014845.6(FIG4):c.235G>A (p.Gly79Arg) rs886060982
NM_014845.6(FIG4):c.2376+2T>C rs756308787
NM_014845.6(FIG4):c.2376+4C>G
NM_014845.6(FIG4):c.2376+4C>T
NM_014845.6(FIG4):c.2376+5G>C rs528952794
NM_014845.6(FIG4):c.2378A>C (p.Asn793Thr)
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter) rs1554309093
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_014845.6(FIG4):c.2441A>T (p.Asp814Val) rs1778168177
NM_014845.6(FIG4):c.2443T>C (p.Phe815Leu)
NM_014845.6(FIG4):c.2445C>G (p.Phe815Leu)
NM_014845.6(FIG4):c.2459G>T (p.Arg820Ile)
NM_014845.6(FIG4):c.2460-10T>C rs749053854
NM_014845.6(FIG4):c.2460-12T>A rs1264436643
NM_014845.6(FIG4):c.2460-5T>A
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.6(FIG4):c.2485C>T (p.His829Tyr) rs1778299963
NM_014845.6(FIG4):c.2546+5G>A rs1060501401
NM_014845.6(FIG4):c.2546+5G>C rs1060501401
NM_014845.6(FIG4):c.2547-3T>A rs537171532
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.2551C>T (p.Pro851Ser) rs773347231
NM_014845.6(FIG4):c.2559_2560delinsAT (p.Ala854Ser) rs2128402653
NM_014845.6(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.2582A>G (p.Tyr861Cys) rs2128402659
NM_014845.6(FIG4):c.2591A>G (p.Gln864Arg) rs539773516
NM_014845.6(FIG4):c.2607C>G (p.Asp869Glu)
NM_014845.6(FIG4):c.2623A>T (p.Ile875Phe)
NM_014845.6(FIG4):c.2639T>A (p.Ile880Asn) rs746915624
NM_014845.6(FIG4):c.263G>T (p.Arg88Leu)
NM_014845.6(FIG4):c.2645C>A (p.Ala882Asp) rs2128402682
NM_014845.6(FIG4):c.2653G>A (p.Gly885Ser) rs2128402684
NM_014845.6(FIG4):c.2662C>T (p.Gln888Ter) rs1306576733
NM_014845.6(FIG4):c.2669T>G (p.Leu890Arg) rs2128402689
NM_014845.6(FIG4):c.2672G>A (p.Gly891Glu)
NM_014845.6(FIG4):c.2680G>A (p.Asp894Asn)
NM_014845.6(FIG4):c.2714G>A (p.Arg905His) rs780921285
NM_014845.6(FIG4):c.281G>A (p.Gly94Asp) rs1775437078
NM_014845.6(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.6(FIG4):c.299G>T (p.Arg100Met)
NM_014845.6(FIG4):c.29G>A (p.Ser10Asn) rs979929537
NM_014845.6(FIG4):c.301T>C (p.Phe101Leu) rs1209947403
NM_014845.6(FIG4):c.314A>G (p.Tyr105Cys)
NM_014845.6(FIG4):c.326TAA[1] (p.Ile110del)
NM_014845.6(FIG4):c.337A>C (p.Arg113=)
NM_014845.6(FIG4):c.359G>A (p.Gly120Glu) rs1775846393
NM_014845.6(FIG4):c.38A>G (p.Gln13Arg) rs1774392570
NM_014845.6(FIG4):c.394A>G (p.Met132Val)
NM_014845.6(FIG4):c.395T>G (p.Met132Arg)
NM_014845.6(FIG4):c.397A>G (p.Ile133Val) rs777011122
NM_014845.6(FIG4):c.3_23dup (p.Met1_Pro7dup) rs1462234190
NM_014845.6(FIG4):c.400T>C (p.Tyr134His) rs2128384043
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) rs571563767
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys) rs571563767
NM_014845.6(FIG4):c.413A>G (p.Asp138Gly) rs1775848896
NM_014845.6(FIG4):c.414T>A (p.Asp138Glu) rs1562648534
NM_014845.6(FIG4):c.434C>T (p.Pro145Leu) rs1775849908
NM_014845.6(FIG4):c.446+3A>G rs201642753
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-565_447-564inv
NM_014845.6(FIG4):c.449A>G (p.Tyr150Cys) rs1233666827
NM_014845.6(FIG4):c.475C>G (p.Leu159Val)
NM_014845.6(FIG4):c.485A>T (p.Asn162Ile) rs2128385214
NM_014845.6(FIG4):c.497G>A (p.Ser166Asn)
NM_014845.6(FIG4):c.504C>G (p.Ser168Arg)
NM_014845.6(FIG4):c.506A>G (p.Tyr169Cys)
NM_014845.6(FIG4):c.512_514del (p.Leu171del) rs763532476
NM_014845.6(FIG4):c.527A>G (p.Gln176Arg) rs1776123608
NM_014845.6(FIG4):c.533A>C (p.Asn178Thr)
NM_014845.6(FIG4):c.535C>G (p.Leu179Val) rs141116831
NM_014845.6(FIG4):c.539C>T (p.Thr180Ile)
NM_014845.6(FIG4):c.553C>A (p.Pro185Thr)
NM_014845.6(FIG4):c.57G>C (p.Glu19Asp) rs2128375315
NM_014845.6(FIG4):c.590G>A (p.Arg197His)
NM_014845.6(FIG4):c.590G>T (p.Arg197Leu) rs543462663
NM_014845.6(FIG4):c.592C>G (p.Gln198Glu)
NM_014845.6(FIG4):c.617A>G (p.Asp206Gly) rs1583663645
NM_014845.6(FIG4):c.61A>G (p.Arg21Gly)
NM_014845.6(FIG4):c.62G>A (p.Arg21Lys) rs1041331138
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_014845.6(FIG4):c.676A>G (p.Met226Val)
NM_014845.6(FIG4):c.67A>G (p.Arg23Gly) rs1775386814
NM_014845.6(FIG4):c.725T>C (p.Val242Ala)
NM_014845.6(FIG4):c.756T>G (p.His252Gln)
NM_014845.6(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.6(FIG4):c.760T>C (p.Phe254Leu) rs2128386168
NM_014845.6(FIG4):c.775+5C>G rs1776227879
NM_014845.6(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs) rs1583669418
NM_014845.6(FIG4):c.799G>C (p.Val267Leu) rs1776321116
NM_014845.6(FIG4):c.7A>T (p.Thr3Ser)
NM_014845.6(FIG4):c.803A>G (p.Tyr268Cys)
NM_014845.6(FIG4):c.805G>T (p.Val269Phe) rs1474263523
NM_014845.6(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014845.6(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014845.6(FIG4):c.865G>A (p.Ala289Thr) rs1776324068
NM_014845.6(FIG4):c.892G>C (p.Glu298Gln)
NM_014845.6(FIG4):c.911T>C (p.Ile304Thr)
NM_014845.6(FIG4):c.915C>T (p.Leu305=)
NM_014845.6(FIG4):c.935C>G (p.Ser312Cys)
NM_014845.6(FIG4):c.962A>G (p.Tyr321Cys)
NM_014845.6(FIG4):c.976G>A (p.Gly326Arg) rs778157600
NM_014845.6(FIG4):c.998C>T (p.Ser333Phe)

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