ClinVar Miner

List of variants in gene FIG4 studied for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 790
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_014845.6(FIG4):c.447-564T>C rs6568602 0.46411
NM_014845.6(FIG4):c.*120C>T rs1127775 0.35612
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_014845.6(FIG4):c.647-18C>A rs2273752 0.33064
NM_014845.6(FIG4):c.1948+46C>A rs9320315 0.23093
NM_014845.6(FIG4):c.*29G>A rs10659 0.08648
NM_014845.6(FIG4):c.2377-19T>C rs72944974 0.05800
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_014845.6(FIG4):c.67-7T>C rs56378532 0.04073
NM_014845.6(FIG4):c.2377-20_2377-19insC rs201752617 0.03507
NM_014845.6(FIG4):c.-120C>T rs75045314 0.02248
NM_014845.6(FIG4):c.-121G>A rs75509752 0.02164
NM_014845.5(FIG4):c.-182G>A rs55873083 0.01220
NM_014845.6(FIG4):c.*7C>T rs113946190 0.01145
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) rs61729092 0.00411
NM_014845.6(FIG4):c.*14C>T rs114136062 0.00408
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
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.627A>G (p.Leu209=) rs140111406 0.00119
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_014845.6(FIG4):c.2377-18T>C rs560214203 0.00056
NM_014845.6(FIG4):c.2459+5G>A rs367944508 0.00038
NM_014845.6(FIG4):c.2459+14A>C rs200078556 0.00032
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.1751-16A>G rs200778905 0.00026
NM_014845.6(FIG4):c.2460-8A>G rs201965891 0.00022
NM_014845.6(FIG4):c.42G>A (p.Lys14=) rs552856153 0.00022
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_014845.6(FIG4):c.1479C>G (p.Thr493=) rs144072304 0.00021
NM_014845.6(FIG4):c.2235C>T (p.Ala745=) rs144830399 0.00018
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.1923G>A (p.Lys641=) rs140078026 0.00012
NM_014845.6(FIG4):c.1305G>C (p.Val435=) rs145227623 0.00011
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_014845.6(FIG4):c.102G>A (p.Thr34=) rs145711919 0.00010
NM_014845.6(FIG4):c.2376+9G>A rs374450869 0.00010
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_014845.6(FIG4):c.2459+7T>G rs575271308 0.00009
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) rs551339249 0.00009
NM_014845.6(FIG4):c.717A>G (p.Lys239=) rs750904354 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.272C>T (p.Ser91Leu) rs753543659 0.00008
NM_014845.6(FIG4):c.918C>T (p.Cys306=) rs369159531 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.2406T>C (p.Tyr802=) rs765557108 0.00007
NM_014845.6(FIG4):c.498-13A>G rs199891240 0.00007
NM_014845.6(FIG4):c.66+13dup rs755637236 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.1890-4A>G rs376586317 0.00006
NM_014845.6(FIG4):c.2052C>T (p.Ser684=) rs183958565 0.00006
NM_014845.6(FIG4):c.2154A>G (p.Pro718=) rs201138266 0.00006
NM_014845.6(FIG4):c.535C>T (p.Leu179Phe) rs141116831 0.00006
NM_014845.6(FIG4):c.54T>C (p.Tyr18=) rs746307320 0.00006
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_014845.6(FIG4):c.66+8C>T rs768404941 0.00006
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter) rs774294963 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.1341T>C (p.Phe447=) rs199651811 0.00005
NM_014845.6(FIG4):c.1435-8C>T rs754607430 0.00005
NM_014845.6(FIG4):c.1584-19C>T rs1052424090 0.00005
NM_014845.6(FIG4):c.1890-17T>A rs201890605 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.2376+8G>A rs779457828 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.669G>A (p.Glu223=) rs764559318 0.00005
NM_014845.6(FIG4):c.829A>T (p.Ser277Cys) rs892208077 0.00005
NM_014845.6(FIG4):c.1040-4T>C rs374343214 0.00004
NM_014845.6(FIG4):c.1091T>A (p.Met364Lys) rs772677048 0.00004
NM_014845.6(FIG4):c.1158T>C (p.His386=) rs370557879 0.00004
NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu) rs769415369 0.00004
NM_014845.6(FIG4):c.1386A>G (p.Glu462=) rs764699770 0.00004
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg) rs201742496 0.00004
NM_014845.6(FIG4):c.15C>T (p.Ala5=) rs917052197 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.2180+20C>T rs372359387 0.00004
NM_014845.6(FIG4):c.2199A>G (p.Glu733=) rs537464083 0.00004
NM_014845.6(FIG4):c.2323C>T (p.Arg775Cys) rs745511182 0.00004
NM_014845.6(FIG4):c.2352A>G (p.Ala784=) rs765278422 0.00004
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter) rs753207473 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.1949-7C>A rs758167651 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.2232C>T (p.Ser744=) rs760578430 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.2388A>G (p.Gln796=) rs1439788451 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.351G>A (p.Ala117=) rs375963892 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.1620C>T (p.Thr540=) rs746367416 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.1809G>A (p.Gly603=) rs148280593 0.00002
NM_014845.6(FIG4):c.1932A>G (p.Pro644=) rs767919652 0.00002
NM_014845.6(FIG4):c.1949-15C>T rs778444771 0.00002
NM_014845.6(FIG4):c.2113A>G (p.Thr705Ala) rs766031746 0.00002
NM_014845.6(FIG4):c.2377-10T>A rs9481005 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.2668C>T (p.Leu890=) rs922260214 0.00002
NM_014845.6(FIG4):c.2685C>T (p.Ser895=) rs764459799 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.289+17C>T rs368282150 0.00002
NM_014845.6(FIG4):c.321T>G (p.Ile107Met) rs372854425 0.00002
NM_014845.6(FIG4):c.366T>C (p.His122=) rs772376305 0.00002
NM_014845.6(FIG4):c.447-14_447-13insG rs1312654340 0.00002
NM_014845.6(FIG4):c.447-19T>C rs1562651409 0.00002
NM_014845.6(FIG4):c.469G>A (p.Val157Met) rs1455052760 0.00002
NM_014845.6(FIG4):c.497+9G>A rs759409330 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.1116C>T (p.Ile372=) rs754932535 0.00001
NM_014845.6(FIG4):c.1137+14A>G rs1776398818 0.00001
NM_014845.6(FIG4):c.1137+5G>T rs746766125 0.00001
NM_014845.6(FIG4):c.114C>T (p.Val38=) rs765676819 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.1271+7G>A rs1158557424 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.1350C>G (p.Arg450=) rs763035100 0.00001
NM_014845.6(FIG4):c.1375C>T (p.Arg459Trp) rs1220742669 0.00001
NM_014845.6(FIG4):c.1388+1G>A rs754338522 0.00001
NM_014845.6(FIG4):c.1389-4A>G rs1234617040 0.00001
NM_014845.6(FIG4):c.1389-5C>T rs377752443 0.00001
NM_014845.6(FIG4):c.1432C>G (p.Gln478Glu) rs1331703765 0.00001
NM_014845.6(FIG4):c.1434+16C>T rs772128948 0.00001
NM_014845.6(FIG4):c.1434+7A>C rs773157476 0.00001
NM_014845.6(FIG4):c.1434G>A (p.Gln478=) rs1430381590 0.00001
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter) rs1228223508 0.00001
NM_014845.6(FIG4):c.1490A>T (p.Gln497Leu) rs748473120 0.00001
NM_014845.6(FIG4):c.1525C>T (p.Leu509=) rs146488614 0.00001
NM_014845.6(FIG4):c.1527G>A (p.Leu509=) rs1282869999 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.1584-16G>A rs1223371250 0.00001
NM_014845.6(FIG4):c.1584-9T>C rs748433013 0.00001
NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter) rs776090013 0.00001
NM_014845.6(FIG4):c.1750+11A>C rs766372971 0.00001
NM_014845.6(FIG4):c.1750+3A>G rs758390500 0.00001
NM_014845.6(FIG4):c.1755C>T (p.Ala585=) rs377111248 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.1812A>G (p.Lys604=) rs1399930708 0.00001
NM_014845.6(FIG4):c.1827G>A (p.Glu609=) rs756085095 0.00001
NM_014845.6(FIG4):c.1834A>G (p.Thr612Ala) rs758695444 0.00001
NM_014845.6(FIG4):c.1836A>G (p.Thr612=) rs1267198458 0.00001
NM_014845.6(FIG4):c.1838A>G (p.Asp613Gly) rs1243225247 0.00001
NM_014845.6(FIG4):c.1890-18T>A rs769375338 0.00001
NM_014845.6(FIG4):c.1949-10T>G rs896444437 0.00001
NM_014845.6(FIG4):c.1A>C (p.Met1Leu) rs1490935299 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.2085A>C (p.Thr695=) rs1197412787 0.00001
NM_014845.6(FIG4):c.2096+16T>A rs779641739 0.00001
NM_014845.6(FIG4):c.2115C>T (p.Thr705=) rs201271644 0.00001
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile) rs754830354 0.00001
NM_014845.6(FIG4):c.2118T>G (p.Val706=) rs780930471 0.00001
NM_014845.6(FIG4):c.2212C>T (p.Gln738Ter) rs774799167 0.00001
NM_014845.6(FIG4):c.2215C>A (p.Arg739=) rs773877685 0.00001
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met) rs1274229885 0.00001
NM_014845.6(FIG4):c.2238G>A (p.Pro746=) rs753867543 0.00001
NM_014845.6(FIG4):c.2240C>T (p.Pro747Leu) rs1266127215 0.00001
NM_014845.6(FIG4):c.2250C>T (p.Ser750=) rs751694228 0.00001
NM_014845.6(FIG4):c.2256G>C (p.Glu752Asp) rs375960403 0.00001
NM_014845.6(FIG4):c.2289G>A (p.Gly763=) rs756539176 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.2319T>C (p.Ser773=) rs745397940 0.00001
NM_014845.6(FIG4):c.2334C>T (p.Pro778=) rs1183428109 0.00001
NM_014845.6(FIG4):c.2339A>G (p.Lys780Arg) rs373590484 0.00001
NM_014845.6(FIG4):c.2382G>A (p.Val794=) rs1201567620 0.00001
NM_014845.6(FIG4):c.2403A>G (p.Leu801=) rs1048137431 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.2459+6_2459+8dup rs1562687535 0.00001
NM_014845.6(FIG4):c.2460-17T>C rs201533992 0.00001
NM_014845.6(FIG4):c.2460-2A>G rs1458183004 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.2470C>T (p.Leu824=) rs1290598433 0.00001
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu) rs768384237 0.00001
NM_014845.6(FIG4):c.252G>A (p.Ser84=) rs532895784 0.00001
NM_014845.6(FIG4):c.2546+11G>T rs1051662160 0.00001
NM_014845.6(FIG4):c.2547-12C>T rs778747845 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.2640C>T (p.Ile880=) rs769813337 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.289+10C>A rs778732368 0.00001
NM_014845.6(FIG4):c.290-2A>T rs587777715 0.00001
NM_014845.6(FIG4):c.300G>A (p.Arg100=) rs368831195 0.00001
NM_014845.6(FIG4):c.318T>C (p.Tyr106=) rs1417300017 0.00001
NM_014845.6(FIG4):c.324G>C (p.Val108=) rs1371576818 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.477A>G (p.Leu159=) rs769256280 0.00001
NM_014845.6(FIG4):c.497+14T>G rs756070677 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.531T>G (p.Tyr177Ter) rs760575768 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.66+18G>A rs1381893795 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
NM_014845.6(FIG4):c.876+8G>A rs923581334 0.00001
NM_014845.6(FIG4):c.877-8C>G rs1279902930 0.00001
NM_014845.6(FIG4):c.885T>A (p.Val295=) rs551491783 0.00001
NM_014845.6(FIG4):c.909A>G (p.Gln303=) rs1173352807 0.00001
NM_014845.6(FIG4):c.915C>G (p.Leu305=) rs375022448 0.00001
NC_000006.11:g.(?_110012639)_(110064995_?)del
NC_000006.11:g.(?_110012639)_(110098283_?)dup
NC_000006.11:g.(?_110048292)_(110053276_?)del
NC_000006.11:g.(?_110048292)_(110098283_?)del
NC_000006.11:g.(?_110081433)_(110088118_?)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.(?_109691416)_(109691521_?)del
NC_000006.12:g.(?_109741424)_(109743792_?)del
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+14T>C
NM_014845.6(FIG4):c.1039+5G>T
NM_014845.6(FIG4):c.1039+6T>C
NM_014845.6(FIG4):c.1039+7G>A
NM_014845.6(FIG4):c.1039+8G>A rs2128386984
NM_014845.6(FIG4):c.1040-16C>G
NM_014845.6(FIG4):c.1040-17T>C rs1476656802
NM_014845.6(FIG4):c.1040-18A>G
NM_014845.6(FIG4):c.1040-1G>A
NM_014845.6(FIG4):c.1065T>C (p.His355=)
NM_014845.6(FIG4):c.1066G>A (p.Val356Met)
NM_014845.6(FIG4):c.1071T>C (p.Ala357=)
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.1096C>T (p.Gln366Ter) rs2128387076
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.1134del (p.Lys379fs)
NM_014845.6(FIG4):c.1137+12T>G
NM_014845.6(FIG4):c.1137+8G>T rs779200387
NM_014845.6(FIG4):c.1138-18G>A
NM_014845.6(FIG4):c.1138-1G>A
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.117G>A (p.Leu39=)
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.1205del (p.Asn402fs) rs1554303800
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter) rs879253926
NM_014845.6(FIG4):c.1209A>G (p.Gln403=)
NM_014845.6(FIG4):c.120G>T (p.Lys40Asn) rs1346518731
NM_014845.6(FIG4):c.1215G>A (p.Leu405=)
NM_014845.6(FIG4):c.1221T>C (p.Pro407=)
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.1227del (p.His409fs)
NM_014845.6(FIG4):c.1231A>G (p.Ile411Val)
NM_014845.6(FIG4):c.1232T>C (p.Ile411Thr)
NM_014845.6(FIG4):c.1260G>A (p.Lys420=)
NM_014845.6(FIG4):c.1270A>G (p.Ser424Gly) rs1777066450
NM_014845.6(FIG4):c.1271+1G>A
NM_014845.6(FIG4):c.1271+9T>C rs1336280554
NM_014845.6(FIG4):c.1272-10C>G rs201293291
NM_014845.6(FIG4):c.1272-10C>T rs201293291
NM_014845.6(FIG4):c.1272-14C>T
NM_014845.6(FIG4):c.1272-20A>G
NM_014845.6(FIG4):c.1272-3C>T
NM_014845.6(FIG4):c.1272-8C>T rs1583697467
NM_014845.6(FIG4):c.1274A>G (p.Lys425Arg) rs2128391428
NM_014845.6(FIG4):c.1278G>A (p.Leu426=)
NM_014845.6(FIG4):c.1287T>A (p.Val429=)
NM_014845.6(FIG4):c.1290T>C (p.Leu430=)
NM_014845.6(FIG4):c.1297C>T (p.Leu433=)
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.1327A>T (p.Lys443Ter) rs2128391439
NM_014845.6(FIG4):c.132A>G (p.Thr44=) rs553864727
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.1374G>A (p.Leu458=)
NM_014845.6(FIG4):c.1377G>T (p.Arg459=) rs2128391467
NM_014845.6(FIG4):c.137C>G (p.Pro46Arg) rs1562642404
NM_014845.6(FIG4):c.1380A>G (p.Pro460=)
NM_014845.6(FIG4):c.1388+10G>C
NM_014845.6(FIG4):c.1388+5G>T rs200730266
NM_014845.6(FIG4):c.1388+7A>G
NM_014845.6(FIG4):c.1388+8T>A rs1255543487
NM_014845.6(FIG4):c.1389-15T>C
NM_014845.6(FIG4):c.1389-18G>A
NM_014845.6(FIG4):c.1389-19T>G
NM_014845.6(FIG4):c.138A>C (p.Pro46=)
NM_014845.6(FIG4):c.1410T>C (p.Cys470=)
NM_014845.6(FIG4):c.1412_1413del (p.Val471fs) rs2128391901
NM_014845.6(FIG4):c.1424G>A (p.Gly475Asp) rs1777192183
NM_014845.6(FIG4):c.1428C>G (p.Arg476=)
NM_014845.6(FIG4):c.1434+18A>G
NM_014845.6(FIG4):c.1435-4T>G
NM_014845.6(FIG4):c.1435-6C>G
NM_014845.6(FIG4):c.1435A>G (p.Thr479Ala)
NM_014845.6(FIG4):c.1443C>T (p.Ile481=) rs1583701662
NM_014845.6(FIG4):c.1445_1452del (p.Leu482fs) rs2128392205
NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter)
NM_014845.6(FIG4):c.1504A>G (p.Lys502Glu)
NM_014845.6(FIG4):c.1521T>C (p.Tyr507=)
NM_014845.6(FIG4):c.1538del (p.Gly513fs) rs1777242231
NM_014845.6(FIG4):c.1545T>A (p.Ile515=)
NM_014845.6(FIG4):c.1548C>G (p.Asp516Glu)
NM_014845.6(FIG4):c.1551A>G (p.Lys517=)
NM_014845.6(FIG4):c.1557T>C (p.Asn519=)
NM_014845.6(FIG4):c.1557T>G (p.Asn519Lys)
NM_014845.6(FIG4):c.156del (p.Ile52fs)
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+16dup rs769229381
NM_014845.6(FIG4):c.1583+20A>C rs377162452
NM_014845.6(FIG4):c.1583+20A>G rs377162452
NM_014845.6(FIG4):c.1583+3A>G rs866431185
NM_014845.6(FIG4):c.1583+7C>T
NM_014845.6(FIG4):c.1584-10C>T
NM_014845.6(FIG4):c.1584-10del
NM_014845.6(FIG4):c.1584-14T>G
NM_014845.6(FIG4):c.1584-18G>A
NM_014845.6(FIG4):c.1584-1G>T
NM_014845.6(FIG4):c.1584-3T>C
NM_014845.6(FIG4):c.1585T>C (p.Leu529=)
NM_014845.6(FIG4):c.165+10C>T
NM_014845.6(FIG4):c.165+17C>T rs1390100492
NM_014845.6(FIG4):c.165+2T>C
NM_014845.6(FIG4):c.165+2T>G
NM_014845.6(FIG4):c.165+8T>C rs1775391813
NM_014845.6(FIG4):c.1658G>C (p.Arg553Pro) rs1422048624
NM_014845.6(FIG4):c.166-10T>C
NM_014845.6(FIG4):c.166-11C>G rs200978101
NM_014845.6(FIG4):c.166-16A>T
NM_014845.6(FIG4):c.166-7T>C rs2128381583
NM_014845.6(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.6(FIG4):c.1679T>C (p.Ile560Thr)
NM_014845.6(FIG4):c.1686A>G (p.Pro562=)
NM_014845.6(FIG4):c.1688G>A (p.Trp563Ter) rs2128392620
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.1710C>T (p.Ile570=)
NM_014845.6(FIG4):c.1712T>G (p.Met571Arg) rs2128392626
NM_014845.6(FIG4):c.1714C>T (p.Gln572Ter)
NM_014845.6(FIG4):c.1731T>C (p.Tyr577=)
NM_014845.6(FIG4):c.1734C>T (p.Tyr578=) rs1224727049
NM_014845.6(FIG4):c.1740T>C (p.Asn580=) rs1554304608
NM_014845.6(FIG4):c.1749_1750+7del rs1777296419
NM_014845.6(FIG4):c.1750+1del rs764770160
NM_014845.6(FIG4):c.1751-17T>C
NM_014845.6(FIG4):c.1752T>A (p.Asp584Glu) rs1060501402
NM_014845.6(FIG4):c.1758T>C (p.Asp586=)
NM_014845.6(FIG4):c.175A>G (p.Thr59Ala) rs748869342
NM_014845.6(FIG4):c.1762C>T (p.Gln588Ter) rs2128394568
NM_014845.6(FIG4):c.1764A>G (p.Gln588=)
NM_014845.6(FIG4):c.1765G>C (p.Asp589His) rs1777637029
NM_014845.6(FIG4):c.1779C>T (p.Leu593=)
NM_014845.6(FIG4):c.177T>G (p.Thr59=)
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.1808_1811dup (p.Pro605fs)
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.183A>G (p.Gln61=) rs1775433473
NM_014845.6(FIG4):c.184G>T (p.Glu62Ter)
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.1885A>C (p.Arg629=)
NM_014845.6(FIG4):c.1887A>C (p.Arg629Ser) rs1399283870
NM_014845.6(FIG4):c.1889+6_1889+11dup rs762389374
NM_014845.6(FIG4):c.1889+9C>T rs1777643262
NM_014845.6(FIG4):c.1890-14T>G rs1562682595
NM_014845.6(FIG4):c.1890-16A>T rs544899373
NM_014845.6(FIG4):c.1890-2A>G rs1777909965
NM_014845.6(FIG4):c.1890-5T>A
NM_014845.6(FIG4):c.18C>G (p.Ala6=)
NM_014845.6(FIG4):c.1905G>A (p.Trp635Ter)
NM_014845.6(FIG4):c.1913A>G (p.Glu638Gly)
NM_014845.6(FIG4):c.1917G>A (p.Val639=)
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter) rs1488999396
NM_014845.6(FIG4):c.1931C>A (p.Pro644Gln)
NM_014845.6(FIG4):c.1948+10T>C
NM_014845.6(FIG4):c.1948+13_1948+16del
NM_014845.6(FIG4):c.1948+1G>A
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.1949-12T>C rs2128396238
NM_014845.6(FIG4):c.1949-16G>T
NM_014845.6(FIG4):c.1949-18A>G
NM_014845.6(FIG4):c.1949-5C>T
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.1A>G (p.Met1Val)
NM_014845.6(FIG4):c.1_18del (p.Met1_Ala6del) rs2128375200
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.2065dup (p.Thr689fs) rs1777959239
NM_014845.6(FIG4):c.2066C>A (p.Thr689Asn) rs1470703929
NM_014845.6(FIG4):c.2067C>T (p.Thr689=)
NM_014845.6(FIG4):c.206G>A (p.Arg69His)
NM_014845.6(FIG4):c.2071dup (p.Cys691fs)
NM_014845.6(FIG4):c.2073C>T (p.Cys691=)
NM_014845.6(FIG4):c.2079T>A (p.Ala693=)
NM_014845.6(FIG4):c.207C>T (p.Arg69=) rs1583643073
NM_014845.6(FIG4):c.2080A>C (p.Met694Leu)
NM_014845.6(FIG4):c.2096+10G>A
NM_014845.6(FIG4):c.2096+10G>T rs1459717981
NM_014845.6(FIG4):c.2096+11T>C
NM_014845.6(FIG4):c.2096+7T>G rs2128396287
NM_014845.6(FIG4):c.2096+8G>A
NM_014845.6(FIG4):c.2096+9T>C rs2128396288
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2097-10C>T rs142482745
NM_014845.6(FIG4):c.2098G>T (p.Asp700Tyr) rs1554308483
NM_014845.6(FIG4):c.2124T>C (p.Ile708=)
NM_014845.6(FIG4):c.2127T>C (p.Asp709=)
NM_014845.6(FIG4):c.2136A>G (p.Pro712=)
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.2157T>C (p.Asp719=) rs2128396853
NM_014845.6(FIG4):c.2161del (p.Thr721fs) rs2128396856
NM_014845.6(FIG4):c.2174dup (p.Leu726fs) rs1562685713
NM_014845.6(FIG4):c.2176T>C (p.Leu726=)
NM_014845.6(FIG4):c.2177T>G (p.Leu726Trp) rs1778084158
NM_014845.6(FIG4):c.2180+1del
NM_014845.6(FIG4):c.2180+3A>G rs1778084325
NM_014845.6(FIG4):c.2181-10C>A rs1583740892
NM_014845.6(FIG4):c.2181-18A>G
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.21del (p.Ile8fs)
NM_014845.6(FIG4):c.2201A>G (p.Glu734Gly)
NM_014845.6(FIG4):c.2204C>G (p.Ala735Gly) rs2128397245
NM_014845.6(FIG4):c.2205T>C (p.Ala735=)
NM_014845.6(FIG4):c.2208A>G (p.Val736=)
NM_014845.6(FIG4):c.2209T>C (p.Leu737=)
NM_014845.6(FIG4):c.2215C>T (p.Arg739Trp) rs773877685
NM_014845.6(FIG4):c.2223G>A (p.Thr741=)
NM_014845.6(FIG4):c.2223G>T (p.Thr741=) rs181012139
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2241G>C (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2242C>T (p.Pro748Ser)
NM_014845.6(FIG4):c.2244C>G (p.Pro748=) rs17854106
NM_014845.6(FIG4):c.2260G>A (p.Val754Met) rs200691981
NM_014845.6(FIG4):c.2262G>C (p.Val754=) rs2128397273
NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs) rs750712213
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.2302G>T (p.Glu768Ter) rs2128397285
NM_014845.6(FIG4):c.2324G>A (p.Arg775His) rs775280287
NM_014845.6(FIG4):c.2325C>T (p.Arg775=)
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.2370G>T (p.Val790=)
NM_014845.6(FIG4):c.2376+13G>A
NM_014845.6(FIG4):c.2376+16G>T rs746479599
NM_014845.6(FIG4):c.2376+1G>A
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.2376+9dup
NM_014845.6(FIG4):c.2377-10del rs200535694
NM_014845.6(FIG4):c.2377-11_2377-10del rs200535694
NM_014845.6(FIG4):c.2377-12T>C rs2128397495
NM_014845.6(FIG4):c.2377-12_2377-10del
NM_014845.6(FIG4):c.2377-13_2377-10del
NM_014845.6(FIG4):c.2377-19_2377-18insC
NM_014845.6(FIG4):c.2377-6C>A
NM_014845.6(FIG4):c.2377-7del
NM_014845.6(FIG4):c.2378A>C (p.Asn793Thr)
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter) rs1554309093
NM_014845.6(FIG4):c.2415C>T (p.Asn805=)
NM_014845.6(FIG4):c.2431_2432del (p.Ser811fs) rs1778167481
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_014845.6(FIG4):c.2443T>C (p.Phe815Leu)
NM_014845.6(FIG4):c.2445C>G (p.Phe815Leu)
NM_014845.6(FIG4):c.2459+12T>C
NM_014845.6(FIG4):c.2459+7T>C rs575271308
NM_014845.6(FIG4):c.2459+8A>G
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.2460-14A>G rs558299221
NM_014845.6(FIG4):c.2460-14A>T rs558299221
NM_014845.6(FIG4):c.2460-5T>A
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.6(FIG4):c.2466T>G (p.Val822=) rs2128398444
NM_014845.6(FIG4):c.2485C>T (p.His829Tyr) rs1778299963
NM_014845.6(FIG4):c.2523G>A (p.Arg841=) rs1554309865
NM_014845.6(FIG4):c.2546+10A>G
NM_014845.6(FIG4):c.2546+16G>A
NM_014845.6(FIG4):c.2546+17A>C rs1050332219
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>A (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.2574T>C (p.Asp858=) rs1583785957
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.2643G>A (p.Gln881=)
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.267G>A (p.Ala89=)
NM_014845.6(FIG4):c.2680G>A (p.Asp894Asn)
NM_014845.6(FIG4):c.2706C>T (p.Ile902=)
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.285T>A (p.Val95=)
NM_014845.6(FIG4):c.289+13C>A
NM_014845.6(FIG4):c.289+13C>T rs1334113726
NM_014845.6(FIG4):c.289+16C>T
NM_014845.6(FIG4):c.289+17C>A rs368282150
NM_014845.6(FIG4):c.289+18del
NM_014845.6(FIG4):c.289+18dup
NM_014845.6(FIG4):c.289+19T>G
NM_014845.6(FIG4):c.290-20C>T
NM_014845.6(FIG4):c.290-2A>G rs587777715
NM_014845.6(FIG4):c.290-5C>T
NM_014845.6(FIG4):c.290-7del rs2128384000
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.317_321del (p.Tyr106fs) rs1562648414
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.363T>A (p.Gly121=)
NM_014845.6(FIG4):c.381C>T (p.Val127=)
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.423G>A (p.Arg141=) rs766129182
NM_014845.6(FIG4):c.434C>T (p.Pro145Leu) rs1775849908
NM_014845.6(FIG4):c.446+16A>G rs1330337335
NM_014845.6(FIG4):c.446+18T>C
NM_014845.6(FIG4):c.446+21dup rs1321436747
NM_014845.6(FIG4):c.446+2T>C
NM_014845.6(FIG4):c.446+32dup rs11459279
NM_014845.6(FIG4):c.446+3A>G rs201642753
NM_014845.6(FIG4):c.447-10_447-9insC rs2128385199
NM_014845.6(FIG4):c.447-15T>G
NM_014845.6(FIG4):c.447-16_447-13del rs753412030
NM_014845.6(FIG4):c.447-16_447-14del
NM_014845.6(FIG4):c.447-16_447-15insCT
NM_014845.6(FIG4):c.447-16del
NM_014845.6(FIG4):c.447-16delinsTT rs1776038653
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_014845.6(FIG4):c.447-18_447-17del
NM_014845.6(FIG4):c.447-18_447-17dup
NM_014845.6(FIG4):c.447-2A>C rs866895236
NM_014845.6(FIG4):c.447-3del rs11377100
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup rs11377100
NM_014845.6(FIG4):c.447-565_447-564inv
NM_014845.6(FIG4):c.447-5_447-3dup
NM_014845.6(FIG4):c.449A>G (p.Tyr150Cys) rs1233666827
NM_014845.6(FIG4):c.451C>T (p.Leu151=)
NM_014845.6(FIG4):c.453A>G (p.Leu151=)
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter) rs1175493477
NM_014845.6(FIG4):c.463C>T (p.Gln155Ter)
NM_014845.6(FIG4):c.475C>G (p.Leu159Val)
NM_014845.6(FIG4):c.485A>T (p.Asn162Ile) rs2128385214
NM_014845.6(FIG4):c.486T>C (p.Asn162=)
NM_014845.6(FIG4):c.490del (p.Tyr164fs) rs769986219
NM_014845.6(FIG4):c.497+10A>T rs2128385219
NM_014845.6(FIG4):c.497+7G>A rs140111950
NM_014845.6(FIG4):c.497G>A (p.Ser166Asn)
NM_014845.6(FIG4):c.498-14A>G
NM_014845.6(FIG4):c.498-15C>A rs2128385652
NM_014845.6(FIG4):c.498-2A>G rs1554300952
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.516C>T (p.Ser172=) rs759246119
NM_014845.6(FIG4):c.527A>G (p.Gln176Arg) rs1776123608
NM_014845.6(FIG4):c.528A>G (p.Gln176=) rs1562652753
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.557del (p.Leu186fs)
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.591C>T (p.Arg197=)
NM_014845.6(FIG4):c.592C>G (p.Gln198Glu)
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
NM_014845.6(FIG4):c.618T>C (p.Asp206=) rs1208786525
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.646+13G>A
NM_014845.6(FIG4):c.646+20C>G
NM_014845.6(FIG4):c.646+7G>T rs2128385685
NM_014845.6(FIG4):c.647-10del
NM_014845.6(FIG4):c.647-20T>C
NM_014845.6(FIG4):c.647-4del
NM_014845.6(FIG4):c.66+11C>A
NM_014845.6(FIG4):c.66+14C>T rs1319217856
NM_014845.6(FIG4):c.66+17G>C
NM_014845.6(FIG4):c.66+19C>G
NM_014845.6(FIG4):c.66+20G>C
NM_014845.6(FIG4):c.66+9C>G
NM_014845.6(FIG4):c.67-15C>T
NM_014845.6(FIG4):c.67-18A>G
NM_014845.6(FIG4):c.67-1G>A
NM_014845.6(FIG4):c.67-8A>G
NM_014845.6(FIG4):c.676A>G (p.Met226Val)
NM_014845.6(FIG4):c.67A>G (p.Arg23Gly) rs1775386814
NM_014845.6(FIG4):c.684T>C (p.Tyr228=) rs1296081777
NM_014845.6(FIG4):c.69A>G (p.Arg23=) rs1775386908
NM_014845.6(FIG4):c.705G>T (p.Leu235=) rs1026195072
NM_014845.6(FIG4):c.725T>C (p.Val242Ala)
NM_014845.6(FIG4):c.741T>C (p.Leu247=)
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.762C>T (p.Phe254=) rs201013726
NM_014845.6(FIG4):c.773C>G (p.Ser258Ter)
NM_014845.6(FIG4):c.775+10C>T
NM_014845.6(FIG4):c.775+20del
NM_014845.6(FIG4):c.775+5C>G rs1776227879
NM_014845.6(FIG4):c.783del (p.Ile262fs) rs1161553940
NM_014845.6(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs) rs1583669418
NM_014845.6(FIG4):c.793C>A (p.Arg265=) rs774294963
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.811C>T (p.Leu271=) rs1360869637
NM_014845.6(FIG4):c.813A>G (p.Leu271=) rs2128386644
NM_014845.6(FIG4):c.823A>C (p.Arg275=)
NM_014845.6(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014845.6(FIG4):c.843C>T (p.Gly281=) rs1776323553
NM_014845.6(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014845.6(FIG4):c.852T>C (p.Phe284=) rs2128386650
NM_014845.6(FIG4):c.865G>A (p.Ala289Thr) rs1776324068
NM_014845.6(FIG4):c.870C>T (p.Asn290=) rs1236653957
NM_014845.6(FIG4):c.876+2T>G rs2128386656
NM_014845.6(FIG4):c.876+7_876+13dup
NM_014845.6(FIG4):c.877-15C>T
NM_014845.6(FIG4):c.877-7T>C
NM_014845.6(FIG4):c.882T>C (p.Asp294=) rs776821372
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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