ClinVar Miner

List of variants studied for Beta-D-mannosidosis by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 625
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HGVS dbSNP gnomAD frequency
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697 0.55313
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_005908.4(MANBA):c.315G>A (p.Thr105=) rs6857760 0.10011
NM_005908.4(MANBA):c.831A>G (p.Leu277=) rs17033168 0.04331
NM_005908.4(MANBA):c.1482G>T (p.Leu494=) rs74718667 0.02371
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01517
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg) rs116340501 0.01154
NM_005908.4(MANBA):c.178-8A>G rs113584126 0.01028
NM_005908.4(MANBA):c.478C>T (p.Arg160Cys) rs114543305 0.00255
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352 0.00205
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe) rs147437033 0.00195
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403 0.00173
NM_005908.4(MANBA):c.961G>T (p.Val321Phe) rs145367849 0.00106
NM_005908.4(MANBA):c.479G>A (p.Arg160His) rs144917953 0.00088
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415 0.00076
NM_005908.4(MANBA):c.531T>C (p.His177=) rs149902075 0.00059
NM_005908.4(MANBA):c.2014+14C>T rs192469727 0.00056
NM_005908.4(MANBA):c.2415+19G>A rs148719555 0.00054
NM_005908.4(MANBA):c.792C>T (p.Tyr264=) rs141619070 0.00031
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514 0.00029
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys) rs140692906 0.00021
NM_005908.4(MANBA):c.2633T>C (p.Ile878Thr) rs145756079 0.00018
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu) rs147023714 0.00017
NM_005908.4(MANBA):c.2416-3C>T rs375466384 0.00017
NM_005908.4(MANBA):c.1499G>A (p.Arg500His) rs147542645 0.00014
NM_005908.4(MANBA):c.1704+16A>G rs554780446 0.00014
NM_005908.4(MANBA):c.1912C>T (p.Arg638Cys) rs746340334 0.00014
NM_005908.4(MANBA):c.2416-9C>T rs200835097 0.00013
NM_005908.4(MANBA):c.1302A>G (p.Ala434=) rs376135201 0.00012
NM_005908.4(MANBA):c.726C>G (p.Val242=) rs376480030 0.00012
NM_005908.4(MANBA):c.1913G>A (p.Arg638His) rs781584789 0.00011
NM_005908.4(MANBA):c.530A>G (p.His177Arg) rs750914797 0.00011
NM_005908.4(MANBA):c.849+13A>C rs76954465 0.00011
NM_005908.4(MANBA):c.1025A>G (p.Tyr342Cys) rs771658981 0.00010
NM_005908.4(MANBA):c.2601G>A (p.Glu867=) rs746506717 0.00010
NM_005908.4(MANBA):c.1511C>T (p.Thr504Met) rs370002189 0.00009
NM_005908.4(MANBA):c.1735A>G (p.Ser579Gly) rs376879093 0.00009
NM_005908.4(MANBA):c.1916G>A (p.Arg639His) rs536744758 0.00008
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe) rs201779762 0.00008
NM_005908.4(MANBA):c.1573A>G (p.Ser525Gly) rs138216864 0.00007
NM_005908.4(MANBA):c.303G>A (p.Glu101=) rs113552770 0.00007
NM_005908.4(MANBA):c.12C>T (p.His4=) rs757557908 0.00006
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_005908.4(MANBA):c.2014+15G>A rs778364481 0.00006
NM_005908.4(MANBA):c.2379G>A (p.Pro793=) rs372595764 0.00006
NM_005908.4(MANBA):c.418A>G (p.Ile140Val) rs572164146 0.00006
NM_005908.4(MANBA):c.807A>G (p.Gln269=) rs151274894 0.00006
NM_005908.4(MANBA):c.1837C>T (p.Arg613Cys) rs749814120 0.00005
NM_005908.4(MANBA):c.2138A>T (p.Asp713Val) rs773650770 0.00005
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val) rs367692761 0.00005
NM_005908.4(MANBA):c.1131G>C (p.Gln377His) rs762175890 0.00004
NM_005908.4(MANBA):c.124G>A (p.Gly42Arg) rs776864457 0.00004
NM_005908.4(MANBA):c.1318-1G>T rs374545788 0.00004
NM_005908.4(MANBA):c.178-10G>A rs376203233 0.00004
NM_005908.4(MANBA):c.2158-8C>T rs770698295 0.00004
NM_005908.4(MANBA):c.2378C>T (p.Pro793Leu) rs376410219 0.00004
NM_005908.4(MANBA):c.347T>C (p.Ile116Thr) rs775841860 0.00004
NM_005908.4(MANBA):c.673+19T>C rs772893130 0.00004
NM_005908.4(MANBA):c.163C>G (p.Gln55Glu) rs758643729 0.00003
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn) rs376012848 0.00003
NM_005908.4(MANBA):c.61C>T (p.Leu21Phe) rs139936532 0.00003
NM_005908.4(MANBA):c.123C>A (p.Pro41=) rs769798393 0.00002
NM_005908.4(MANBA):c.1317+14C>A rs200935345 0.00002
NM_005908.4(MANBA):c.1339C>T (p.Pro447Ser) rs755785845 0.00002
NM_005908.4(MANBA):c.1439A>G (p.Asp480Gly) rs201830848 0.00002
NM_005908.4(MANBA):c.1471G>A (p.Glu491Lys) rs1578882546 0.00002
NM_005908.4(MANBA):c.1709C>T (p.Ser570Leu) rs542071291 0.00002
NM_005908.4(MANBA):c.1846A>G (p.Lys616Glu) rs772091430 0.00002
NM_005908.4(MANBA):c.2019C>T (p.Tyr673=) rs759861033 0.00002
NM_005908.4(MANBA):c.2158-2A>G rs772852668 0.00002
NM_005908.4(MANBA):c.2416-9del rs1345228065 0.00002
NM_005908.4(MANBA):c.378+1G>A rs142029636 0.00002
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp) rs374377679 0.00002
NM_005908.4(MANBA):c.550-1G>A rs760404534 0.00002
NM_005908.4(MANBA):c.552G>A (p.Glu184=) rs1393310114 0.00002
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter) rs763849774 0.00002
NM_005908.4(MANBA):c.708G>A (p.Glu236=) rs769969734 0.00002
NM_005908.4(MANBA):c.778A>G (p.Thr260Ala) rs762887276 0.00002
NM_005908.4(MANBA):c.818G>A (p.Arg273Lys) rs774776210 0.00002
NM_005908.4(MANBA):c.1057A>G (p.Lys353Glu) rs779705524 0.00001
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val) rs199966543 0.00001
NM_005908.4(MANBA):c.1112+8A>C rs752741187 0.00001
NM_005908.4(MANBA):c.1112+9T>C rs528890323 0.00001
NM_005908.4(MANBA):c.1113-3C>T rs919183854 0.00001
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp) rs369478532 0.00001
NM_005908.4(MANBA):c.111G>T (p.Ser37=) rs927918838 0.00001
NM_005908.4(MANBA):c.1300G>A (p.Ala434Thr) rs753441236 0.00001
NM_005908.4(MANBA):c.1403A>G (p.His468Arg) rs776769550 0.00001
NM_005908.4(MANBA):c.1421G>A (p.Arg474Gln) rs779506935 0.00001
NM_005908.4(MANBA):c.1434del (p.Lys479fs) rs776601022 0.00001
NM_005908.4(MANBA):c.1512G>A (p.Thr504=) rs143694332 0.00001
NM_005908.4(MANBA):c.1610T>A (p.Ile537Asn) rs558710124 0.00001
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668 0.00001
NM_005908.4(MANBA):c.1628G>A (p.Trp543Ter) rs1309076303 0.00001
NM_005908.4(MANBA):c.168C>T (p.Gly56=) rs373360398 0.00001
NM_005908.4(MANBA):c.1746A>T (p.Ser582=) rs1730293546 0.00001
NM_005908.4(MANBA):c.177+4T>C rs755493385 0.00001
NM_005908.4(MANBA):c.1865C>T (p.Thr622Ile) rs201866934 0.00001
NM_005908.4(MANBA):c.1927G>A (p.Glu643Lys) rs1167564128 0.00001
NM_005908.4(MANBA):c.1952C>T (p.Thr651Met) rs774565122 0.00001
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=) rs180816849 0.00001
NM_005908.4(MANBA):c.2207C>T (p.Thr736Ile) rs202100945 0.00001
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs) rs1341763493 0.00001
NM_005908.4(MANBA):c.2470G>A (p.Val824Ile) rs1246857426 0.00001
NM_005908.4(MANBA):c.2542G>A (p.Glu848Lys) rs536554772 0.00001
NM_005908.4(MANBA):c.2632A>G (p.Ile878Val) rs1409396131 0.00001
NM_005908.4(MANBA):c.279G>A (p.Trp93Ter) rs1035305358 0.00001
NM_005908.4(MANBA):c.375A>G (p.Arg125=) rs771587242 0.00001
NM_005908.4(MANBA):c.420T>C (p.Ile140=) rs1258519531 0.00001
NM_005908.4(MANBA):c.469G>C (p.Ala157Pro) rs768261895 0.00001
NM_005908.4(MANBA):c.50C>T (p.Thr17Ile) rs765795629 0.00001
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer) rs752343321 0.00001
NM_005908.4(MANBA):c.617G>A (p.Arg206Lys) rs756414140 0.00001
NM_005908.4(MANBA):c.649T>C (p.Tyr217His) rs757677635 0.00001
NM_005908.4(MANBA):c.674-9A>G rs753271164 0.00001
NM_005908.4(MANBA):c.690G>A (p.Glu230=) rs147662779 0.00001
NM_005908.4(MANBA):c.700G>A (p.Glu234Lys) rs762976551 0.00001
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter) rs1553948361 0.00001
NM_005908.4(MANBA):c.847A>C (p.Lys283Gln) rs777309946 0.00001
NM_005908.4(MANBA):c.935G>C (p.Gly312Ala) rs1483686622 0.00001
NM_005908.4(MANBA):c.960+1G>A rs890870104 0.00001
NC_000004.11:g.(?_101947022)_(104640832_?)del
NC_000004.11:g.(?_103590100)_(103611948_?)del
NC_000004.11:g.(?_103610711)_(103645144_?)del
NC_000004.11:g.(?_103635575)_(103635738_?)dup
NC_000004.12:g.(?_102650517)_(102726703_?)del
NM_005908.4(MANBA):c.-13_112del (p.Met1fs)
NM_005908.4(MANBA):c.1002A>G (p.Lys334=)
NM_005908.4(MANBA):c.1018del (p.Ser340fs)
NM_005908.4(MANBA):c.102G>A (p.Gly34=)
NM_005908.4(MANBA):c.102G>C (p.Gly34=)
NM_005908.4(MANBA):c.1047C>T (p.Pro349=)
NM_005908.4(MANBA):c.106G>A (p.Gly36Ser)
NM_005908.4(MANBA):c.1073T>C (p.Ile358Thr) rs2110226355
NM_005908.4(MANBA):c.1086A>G (p.Ser362=)
NM_005908.4(MANBA):c.1096C>T (p.Arg366Ter)
NM_005908.4(MANBA):c.1097G>C (p.Arg366Pro)
NM_005908.4(MANBA):c.1098A>G (p.Arg366=)
NM_005908.4(MANBA):c.10C>T (p.His4Tyr)
NM_005908.4(MANBA):c.1101_1111del (p.Thr368fs)
NM_005908.4(MANBA):c.1107T>G (p.Ser369=)
NM_005908.4(MANBA):c.110C>T (p.Ser37Leu)
NM_005908.4(MANBA):c.1112+10T>C
NM_005908.4(MANBA):c.1112+13C>T
NM_005908.4(MANBA):c.1112+17C>A
NM_005908.4(MANBA):c.1112+1G>T
NM_005908.4(MANBA):c.1113-17T>C
NM_005908.4(MANBA):c.1113-6C>T
NM_005908.4(MANBA):c.1116A>G (p.Leu372=)
NM_005908.4(MANBA):c.1118G>A (p.Arg373Gln)
NM_005908.4(MANBA):c.1119G>T (p.Arg373=)
NM_005908.4(MANBA):c.1128A>G (p.Leu376=)
NM_005908.4(MANBA):c.1134T>A (p.Ser378=)
NM_005908.4(MANBA):c.1140G>A (p.Val380=)
NM_005908.4(MANBA):c.1143T>C (p.Asp381=)
NM_005908.4(MANBA):c.1149T>C (p.Asn383=)
NM_005908.4(MANBA):c.1153_1162del (p.Asn385fs)
NM_005908.4(MANBA):c.1156_1157del (p.Thr386fs)
NM_005908.4(MANBA):c.1164G>A (p.Arg388=)
NM_005908.4(MANBA):c.1164G>C (p.Arg388=)
NM_005908.4(MANBA):c.1169G>A (p.Trp390Ter)
NM_005908.4(MANBA):c.1173A>G (p.Gly391=)
NM_005908.4(MANBA):c.1176A>C (p.Gly392=)
NM_005908.4(MANBA):c.1188G>A (p.Glu396=)
NM_005908.4(MANBA):c.120G>A (p.Leu40=)
NM_005908.4(MANBA):c.1223G>T (p.Gly408Val)
NM_005908.4(MANBA):c.1230+12A>G
NM_005908.4(MANBA):c.1230+13T>C
NM_005908.4(MANBA):c.1230+14A>G
NM_005908.4(MANBA):c.1230+15G>A
NM_005908.4(MANBA):c.1230+17A>G
NM_005908.4(MANBA):c.1230+9T>A
NM_005908.4(MANBA):c.1231-14A>G
NM_005908.4(MANBA):c.1231-16T>G
NM_005908.4(MANBA):c.1231-16_1231-15del
NM_005908.4(MANBA):c.1231-1G>A
NM_005908.4(MANBA):c.1231-20C>G
NM_005908.4(MANBA):c.1231-6T>G
NM_005908.4(MANBA):c.1234dup (p.Trp412fs)
NM_005908.4(MANBA):c.1235G>A (p.Trp412Ter)
NM_005908.4(MANBA):c.1239G>A (p.Gln413=)
NM_005908.4(MANBA):c.1240G>A (p.Asp414Asn) rs2110220981
NM_005908.4(MANBA):c.1247T>G (p.Met416Arg)
NM_005908.4(MANBA):c.1255T>C (p.Cys419Arg)
NM_005908.4(MANBA):c.1257T>C (p.Cys419=)
NM_005908.4(MANBA):c.126G>A (p.Gly42=)
NM_005908.4(MANBA):c.1293A>G (p.Ser431=)
NM_005908.4(MANBA):c.130G>A (p.Val44Ile) rs1432738569
NM_005908.4(MANBA):c.1311C>T (p.Ala437=)
NM_005908.4(MANBA):c.1312del (p.Tyr438fs)
NM_005908.4(MANBA):c.1314C>T (p.Tyr438=)
NM_005908.4(MANBA):c.1317+12C>A
NM_005908.4(MANBA):c.1317+17C>T
NM_005908.4(MANBA):c.1318-13T>C
NM_005908.4(MANBA):c.1318-13del
NM_005908.4(MANBA):c.1318-19_1318-18del
NM_005908.4(MANBA):c.1318-9A>C
NM_005908.4(MANBA):c.132C>T (p.Val44=)
NM_005908.4(MANBA):c.1352T>A (p.Ile451Lys)
NM_005908.4(MANBA):c.135T>G (p.Pro45=)
NM_005908.4(MANBA):c.1376A>T (p.Glu459Val)
NM_005908.4(MANBA):c.1383G>A (p.Ala461=)
NM_005908.4(MANBA):c.1384C>T (p.Leu462=)
NM_005908.4(MANBA):c.1386G>C (p.Leu462=)
NM_005908.4(MANBA):c.1394A>G (p.Asn465Ser)
NM_005908.4(MANBA):c.1395T>C (p.Asn465=)
NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter) rs1208178394
NM_005908.4(MANBA):c.13C>T (p.Leu5=)
NM_005908.4(MANBA):c.1413C>T (p.Phe471=)
NM_005908.4(MANBA):c.1420C>T (p.Arg474Trp) rs141230920
NM_005908.4(MANBA):c.1422_1477dup (p.Val493delinsGlyGlnSerThrSerArgThrMetTer)
NM_005908.4(MANBA):c.1428C>A (p.Ile476=)
NM_005908.4(MANBA):c.1434C>G (p.Ile478Met)
NM_005908.4(MANBA):c.1443T>C (p.Tyr481=)
NM_005908.4(MANBA):c.1446G>A (p.Val482=)
NM_005908.4(MANBA):c.1452_1453del (p.Tyr485fs) rs764364492
NM_005908.4(MANBA):c.1453dup (p.Tyr485fs)
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs) rs1188116333
NM_005908.4(MANBA):c.1470del (p.Glu491fs)
NM_005908.4(MANBA):c.1473G>A (p.Glu491=)
NM_005908.4(MANBA):c.1480C>T (p.Leu494=)
NM_005908.4(MANBA):c.1485+16del rs2110216761
NM_005908.4(MANBA):c.1485+18A>G
NM_005908.4(MANBA):c.1485+9T>A rs199592616
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1486-13T>C
NM_005908.4(MANBA):c.1486-15T>C
NM_005908.4(MANBA):c.1511_1512insAATA (p.Ser505fs) rs760992372
NM_005908.4(MANBA):c.1517G>A (p.Ser506Asn)
NM_005908.4(MANBA):c.1534G>T (p.Glu512Ter)
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_005908.4(MANBA):c.1545A>G (p.Ala515=)
NM_005908.4(MANBA):c.1550C>T (p.Ala517Val)
NM_005908.4(MANBA):c.1551C>G (p.Ala517=)
NM_005908.4(MANBA):c.1551C>T (p.Ala517=)
NM_005908.4(MANBA):c.1553G>A (p.Trp518Ter)
NM_005908.4(MANBA):c.1557C>G (p.Val519=) rs958430573
NM_005908.4(MANBA):c.1557C>T (p.Val519=)
NM_005908.4(MANBA):c.1561C>T (p.Gln521Ter)
NM_005908.4(MANBA):c.1563A>G (p.Gln521=)
NM_005908.4(MANBA):c.1572T>C (p.Asn524=) rs2110210086
NM_005908.4(MANBA):c.1575C>T (p.Ser525=)
NM_005908.4(MANBA):c.1581T>A (p.Tyr527Ter)
NM_005908.4(MANBA):c.1581T>C (p.Tyr527=)
NM_005908.4(MANBA):c.1584T>C (p.Phe528=)
NM_005908.4(MANBA):c.1589A>G (p.Asp530Gly)
NM_005908.4(MANBA):c.1593A>G (p.Val531=)
NM_005908.4(MANBA):c.1596T>C (p.His532=)
NM_005908.4(MANBA):c.15G>A (p.Leu5=)
NM_005908.4(MANBA):c.15G>C (p.Leu5=)
NM_005908.4(MANBA):c.1605C>T (p.Asp535=)
NM_005908.4(MANBA):c.1623G>A (p.Trp541Ter)
NM_005908.4(MANBA):c.162G>A (p.Gln54=)
NM_005908.4(MANBA):c.1638C>T (p.Phe546=)
NM_005908.4(MANBA):c.1644del (p.Ala549fs)
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter)
NM_005908.4(MANBA):c.1649G>A (p.Arg550Gln) rs745958233
NM_005908.4(MANBA):c.1649del (p.Arg550fs)
NM_005908.4(MANBA):c.1651T>C (p.Phe551Leu)
NM_005908.4(MANBA):c.1653T>C (p.Phe551=)
NM_005908.4(MANBA):c.1668A>G (p.Gly556=)
NM_005908.4(MANBA):c.1679G>T (p.Trp560Leu)
NM_005908.4(MANBA):c.1683G>A (p.Pro561=)
NM_005908.4(MANBA):c.1686C>T (p.Ser562=)
NM_005908.4(MANBA):c.1689C>T (p.Phe563=)
NM_005908.4(MANBA):c.1695A>G (p.Thr565=)
NM_005908.4(MANBA):c.1696T>G (p.Leu566Val)
NM_005908.4(MANBA):c.169C>A (p.Leu57Met) rs1349054936
NM_005908.4(MANBA):c.169C>T (p.Leu57=)
NM_005908.4(MANBA):c.1704+10C>T
NM_005908.4(MANBA):c.1704+11G>A
NM_005908.4(MANBA):c.1704+12T>A
NM_005908.4(MANBA):c.1704+1G>T
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_005908.4(MANBA):c.1705-14T>C
NM_005908.4(MANBA):c.1705-17T>C
NM_005908.4(MANBA):c.1705-2A>G
NM_005908.4(MANBA):c.1710G>A (p.Ser570=)
NM_005908.4(MANBA):c.1724G>A (p.Trp575Ter)
NM_005908.4(MANBA):c.1726T>A (p.Ser576Thr)
NM_005908.4(MANBA):c.1733del (p.Asn578fs)
NM_005908.4(MANBA):c.1734T>C (p.Asn578=)
NM_005908.4(MANBA):c.1737C>T (p.Ser579=)
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
NM_005908.4(MANBA):c.1754G>A (p.Arg585Gln) rs200033515
NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu) rs200033515
NM_005908.4(MANBA):c.1764C>T (p.His588=)
NM_005908.4(MANBA):c.177+12G>C
NM_005908.4(MANBA):c.177+14C>A
NM_005908.4(MANBA):c.177+18C>T
NM_005908.4(MANBA):c.177+19C>A
NM_005908.4(MANBA):c.177+19C>G
NM_005908.4(MANBA):c.177+20C>T
NM_005908.4(MANBA):c.177+3A>G rs2110217534
NM_005908.4(MANBA):c.177+4T>A
NM_005908.4(MANBA):c.177+7C>A
NM_005908.4(MANBA):c.177+7C>G
NM_005908.4(MANBA):c.178-12T>C
NM_005908.4(MANBA):c.178-15A>G
NM_005908.4(MANBA):c.178-2A>G
NM_005908.4(MANBA):c.178-3C>T rs556686364
NM_005908.4(MANBA):c.1794G>A (p.Gln598=)
NM_005908.4(MANBA):c.1800A>G (p.Gly600=)
NM_005908.4(MANBA):c.1823G>A (p.Ser608Asn) rs1730287301
NM_005908.4(MANBA):c.1827A>G (p.Thr609=)
NM_005908.4(MANBA):c.1829A>C (p.Asp610Ala)
NM_005908.4(MANBA):c.1830T>A (p.Asp610Glu)
NM_005908.4(MANBA):c.1836dup (p.Arg613fs)
NM_005908.4(MANBA):c.1838G>A (p.Arg613His)
NM_005908.4(MANBA):c.1838G>T (p.Arg613Leu)
NM_005908.4(MANBA):c.1839C>T (p.Arg613=)
NM_005908.4(MANBA):c.1850A>C (p.Asp617Ala)
NM_005908.4(MANBA):c.1851T>C (p.Asp617=) rs2110203050
NM_005908.4(MANBA):c.1854C>T (p.Thr618=)
NM_005908.4(MANBA):c.1869+17C>A
NM_005908.4(MANBA):c.1869+20G>A
NM_005908.4(MANBA):c.1869+8G>A
NM_005908.4(MANBA):c.1870-16T>C
NM_005908.4(MANBA):c.1870-5A>T
NM_005908.4(MANBA):c.1872G>A (p.Val624=)
NM_005908.4(MANBA):c.1878G>A (p.Gln626=)
NM_005908.4(MANBA):c.1881C>G (p.Ala627=)
NM_005908.4(MANBA):c.1894A>C (p.Thr632Pro)
NM_005908.4(MANBA):c.1904A>G (p.Glu635Gly)
NM_005908.4(MANBA):c.1905A>G (p.Glu635=)
NM_005908.4(MANBA):c.1915C>T (p.Arg639Cys)
NM_005908.4(MANBA):c.1917T>C (p.Arg639=)
NM_005908.4(MANBA):c.1920T>C (p.Ser640=)
NM_005908.4(MANBA):c.1926C>T (p.Ser642=)
NM_005908.4(MANBA):c.1942C>A (p.Gln648Lys)
NM_005908.4(MANBA):c.1944A>G (p.Gln648=)
NM_005908.4(MANBA):c.1945G>T (p.Gly649Trp) rs1729796963
NM_005908.4(MANBA):c.1947G>A (p.Gly649=)
NM_005908.4(MANBA):c.194_214del (p.Phe65_Arg71del) rs1300919851
NM_005908.4(MANBA):c.1953G>A (p.Thr651=) rs886058968
NM_005908.4(MANBA):c.1959G>A (p.Gly653=)
NM_005908.4(MANBA):c.1959G>C (p.Gly653=)
NM_005908.4(MANBA):c.1962A>G (p.Ala654=)
NM_005908.4(MANBA):c.1992A>G (p.Gln664=)
NM_005908.4(MANBA):c.2014+8T>C
NM_005908.4(MANBA):c.2015-11del
NM_005908.4(MANBA):c.2015-12G>T
NM_005908.4(MANBA):c.2015-16T>G
NM_005908.4(MANBA):c.2015-1G>A
NM_005908.4(MANBA):c.2015-7T>C
NM_005908.4(MANBA):c.2018A>G (p.Tyr673Cys) rs1729616711
NM_005908.4(MANBA):c.2030G>A (p.Trp677Ter) rs371368353
NM_005908.4(MANBA):c.2042A>G (p.His681Arg)
NM_005908.4(MANBA):c.2046C>T (p.Tyr682=)
NM_005908.4(MANBA):c.2057del (p.Asn686fs)
NM_005908.4(MANBA):c.2070A>G (p.Pro690=)
NM_005908.4(MANBA):c.2072del (p.Leu691fs)
NM_005908.4(MANBA):c.2079A>G (p.Pro693=)
NM_005908.4(MANBA):c.2100C>T (p.Asn700=)
NM_005908.4(MANBA):c.2101_2102insTGTGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGAATGAAAACA (p.Thr701delinsMetTer)
NM_005908.4(MANBA):c.2102C>G (p.Thr701Arg) rs2866413
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2102_2103insAT (p.Phe702fs)
NM_005908.4(MANBA):c.2103G>A (p.Thr701=)
NM_005908.4(MANBA):c.2103G>T (p.Thr701=)
NM_005908.4(MANBA):c.210C>T (p.Tyr70=)
NM_005908.4(MANBA):c.2135C>T (p.Ser712Leu)
NM_005908.4(MANBA):c.2144C>T (p.Ser715Leu)
NM_005908.4(MANBA):c.2145G>A (p.Ser715=)
NM_005908.4(MANBA):c.2154C>G (p.Leu718=)
NM_005908.4(MANBA):c.2157+12G>A
NM_005908.4(MANBA):c.2157+17G>C
NM_005908.4(MANBA):c.2157+19T>A
NM_005908.4(MANBA):c.2157+8A>G
NM_005908.4(MANBA):c.2157+9C>T
NM_005908.4(MANBA):c.2158-10T>G
NM_005908.4(MANBA):c.2158-11T>C
NM_005908.4(MANBA):c.2158-14T>G
NM_005908.4(MANBA):c.2158-17G>A
NM_005908.4(MANBA):c.2158-5C>T
NM_005908.4(MANBA):c.2158-6C>G
NM_005908.4(MANBA):c.2158-6C>T
NM_005908.4(MANBA):c.2158-7T>A
NM_005908.4(MANBA):c.2158-9T>A
NM_005908.4(MANBA):c.2160G>A (p.Val720=)
NM_005908.4(MANBA):c.2161A>T (p.Arg721Ter)
NM_005908.4(MANBA):c.2167C>T (p.His723Tyr)
NM_005908.4(MANBA):c.2174G>C (p.Trp725Ser) rs2110188789
NM_005908.4(MANBA):c.2175dup (p.Ser726fs) rs771465504
NM_005908.4(MANBA):c.2176A>T (p.Ser726Cys)
NM_005908.4(MANBA):c.2178C>T (p.Ser726=)
NM_005908.4(MANBA):c.2181C>G (p.Ser727=)
NM_005908.4(MANBA):c.2190C>T (p.Pro730=)
NM_005908.4(MANBA):c.2193G>A (p.Val731=)
NM_005908.4(MANBA):c.2201G>A (p.Arg734His) rs143630504
NM_005908.4(MANBA):c.2201G>C (p.Arg734Pro)
NM_005908.4(MANBA):c.2229A>C (p.Gly743=)
NM_005908.4(MANBA):c.2229A>T (p.Gly743=)
NM_005908.4(MANBA):c.2232A>C (p.Gly744=)
NM_005908.4(MANBA):c.2241C>T (p.Val747=)
NM_005908.4(MANBA):c.2244C>A (p.Cys748Ter)
NM_005908.4(MANBA):c.2244C>T (p.Cys748=)
NM_005908.4(MANBA):c.2247T>C (p.Leu749=)
NM_005908.4(MANBA):c.2253G>A (p.Glu751=)
NM_005908.4(MANBA):c.225G>A (p.Leu75=)
NM_005908.4(MANBA):c.2265T>C (p.Ser755=)
NM_005908.4(MANBA):c.2269T>C (p.Leu757=) rs774068992
NM_005908.4(MANBA):c.2282G>C (p.Cys761Ser) rs538584064
NM_005908.4(MANBA):c.2296C>A (p.Arg766=)
NM_005908.4(MANBA):c.2298G>A (p.Arg766=)
NM_005908.4(MANBA):c.2310G>A (p.Val770=)
NM_005908.4(MANBA):c.2311G>A (p.Val771Ile)
NM_005908.4(MANBA):c.2316C>G (p.Ser772=)
NM_005908.4(MANBA):c.2333_2334del (p.Asp778fs)
NM_005908.4(MANBA):c.2334C>T (p.Asp778=)
NM_005908.4(MANBA):c.2351C>T (p.Pro784Leu) rs116340501
NM_005908.4(MANBA):c.2352G>A (p.Pro784=)
NM_005908.4(MANBA):c.2352G>T (p.Pro784=)
NM_005908.4(MANBA):c.2355C>T (p.Thr785=)
NM_005908.4(MANBA):c.2356A>G (p.Asn786Asp)
NM_005908.4(MANBA):c.2357A>G (p.Asn786Ser) rs2110188500
NM_005908.4(MANBA):c.2358C>T (p.Asn786=) rs767182713
NM_005908.4(MANBA):c.2363A>T (p.His788Leu) rs2110188478
NM_005908.4(MANBA):c.2386del (p.Ala796fs)
NM_005908.4(MANBA):c.2388C>T (p.Ala796=)
NM_005908.4(MANBA):c.239A>G (p.Tyr80Cys)
NM_005908.4(MANBA):c.2401A>C (p.Lys801Gln) rs2110188388
NM_005908.4(MANBA):c.2403G>A (p.Lys801=)
NM_005908.4(MANBA):c.2405C>T (p.Ala802Val)
NM_005908.4(MANBA):c.2406G>A (p.Ala802=) rs758859697
NM_005908.4(MANBA):c.2406G>T (p.Ala802=)
NM_005908.4(MANBA):c.2415+11G>A
NM_005908.4(MANBA):c.2415+11_2415+17dup
NM_005908.4(MANBA):c.2415+14A>T
NM_005908.4(MANBA):c.2415+15T>C
NM_005908.4(MANBA):c.2415+18C>T
NM_005908.4(MANBA):c.2416-10del rs5860729
NM_005908.4(MANBA):c.2416-11_2416-10del rs5860729
NM_005908.4(MANBA):c.2416-19T>C
NM_005908.4(MANBA):c.2416-20dup rs5860729
NM_005908.4(MANBA):c.2416-22_2416-18del rs2110185741
NM_005908.4(MANBA):c.2416-4T>C
NM_005908.4(MANBA):c.242G>A (p.Ser81Asn) rs372866446
NM_005908.4(MANBA):c.2433A>G (p.Gln811=)
NM_005908.4(MANBA):c.243C>T (p.Ser81=)
NM_005908.4(MANBA):c.2471T>A (p.Val824Asp)
NM_005908.4(MANBA):c.2472C>A (p.Val824=)
NM_005908.4(MANBA):c.2472C>G (p.Val824=)
NM_005908.4(MANBA):c.2472C>T (p.Val824=)
NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr) rs182869272
NM_005908.4(MANBA):c.2473G>T (p.Ala825Ser) rs182869272
NM_005908.4(MANBA):c.2478C>G (p.Pro826=)
NM_005908.4(MANBA):c.2488T>C (p.Leu830=)
NM_005908.4(MANBA):c.2489T>G (p.Leu830Trp) rs1729412034
NM_005908.4(MANBA):c.249A>G (p.Glu83=)
NM_005908.4(MANBA):c.2511G>A (p.Gly837=)
NM_005908.4(MANBA):c.2516T>G (p.Phe839Cys) rs1382838664
NM_005908.4(MANBA):c.2526T>C (p.Asn842=)
NM_005908.4(MANBA):c.2536A>C (p.Met846Leu)
NM_005908.4(MANBA):c.2539A>C (p.Thr847Pro) rs2110185461
NM_005908.4(MANBA):c.2541T>C (p.Thr847=)
NM_005908.4(MANBA):c.2544_2545del (p.Lys849fs) rs749997217
NM_005908.4(MANBA):c.2547G>A (p.Lys849=)
NM_005908.4(MANBA):c.2551C>T (p.Arg851Ter) rs200999022
NM_005908.4(MANBA):c.2553A>G (p.Arg851=)
NM_005908.4(MANBA):c.2556T>A (p.Thr852=)
NM_005908.4(MANBA):c.2561T>C (p.Leu854Ser)
NM_005908.4(MANBA):c.2577G>A (p.Glu859=)
NM_005908.4(MANBA):c.258C>A (p.Ile86=)
NM_005908.4(MANBA):c.2592T>C (p.Asn864=) rs1578852747
NM_005908.4(MANBA):c.2595G>A (p.Glu865=)
NM_005908.4(MANBA):c.2613T>C (p.His871=)
NM_005908.4(MANBA):c.2630A>G (p.Asp877Gly) rs752396515
NM_005908.4(MANBA):c.270T>A (p.Ile90=)
NM_005908.4(MANBA):c.272+13G>A
NM_005908.4(MANBA):c.272+15G>T
NM_005908.4(MANBA):c.272+16G>C
NM_005908.4(MANBA):c.272+17G>A
NM_005908.4(MANBA):c.272+17G>T
NM_005908.4(MANBA):c.272+2T>C
NM_005908.4(MANBA):c.272+7A>G
NM_005908.4(MANBA):c.273-10T>C
NM_005908.4(MANBA):c.273-11C>G
NM_005908.4(MANBA):c.273-11_273-7del
NM_005908.4(MANBA):c.273-1G>A
NM_005908.4(MANBA):c.273-3del
NM_005908.4(MANBA):c.273-3dup
NM_005908.4(MANBA):c.273-7T>A
NM_005908.4(MANBA):c.273-9T>C
NM_005908.4(MANBA):c.27C>A (p.Leu9=)
NM_005908.4(MANBA):c.280C>A (p.Gln94Lys)
NM_005908.4(MANBA):c.285A>G (p.Lys95=)
NM_005908.4(MANBA):c.295A>G (p.Ile99Val)
NM_005908.4(MANBA):c.308T>C (p.Val103Ala)
NM_005908.4(MANBA):c.309G>A (p.Val103=)
NM_005908.4(MANBA):c.30G>A (p.Ala10=)
NM_005908.4(MANBA):c.320C>A (p.Ser107Ter)
NM_005908.4(MANBA):c.328C>T (p.Leu110=)
NM_005908.4(MANBA):c.33G>A (p.Leu11=)
NM_005908.4(MANBA):c.357A>G (p.Thr119=)
NM_005908.4(MANBA):c.357A>T (p.Thr119=)
NM_005908.4(MANBA):c.360C>T (p.Asp120=)
NM_005908.4(MANBA):c.372T>C (p.Asn124=)
NM_005908.4(MANBA):c.378+14G>A
NM_005908.4(MANBA):c.378+15A>C
NM_005908.4(MANBA):c.378+15A>G
NM_005908.4(MANBA):c.378+16C>T
NM_005908.4(MANBA):c.378+17A>G
NM_005908.4(MANBA):c.378+19T>C
NM_005908.4(MANBA):c.378+2T>C
NM_005908.4(MANBA):c.378+7A>T
NM_005908.4(MANBA):c.378+9A>G
NM_005908.4(MANBA):c.379-14T>C
NM_005908.4(MANBA):c.379-16G>T
NM_005908.4(MANBA):c.379-1G>A
NM_005908.4(MANBA):c.37G>A (p.Gly13Ser)
NM_005908.4(MANBA):c.386del (p.Asp129fs)
NM_005908.4(MANBA):c.396C>T (p.Asn132=)
NM_005908.4(MANBA):c.397G>A (p.Val133Met)
NM_005908.4(MANBA):c.39T>G (p.Gly13=)
NM_005908.4(MANBA):c.408C>G (p.Asp136Glu) rs779626922
NM_005908.4(MANBA):c.408C>T (p.Asp136=)
NM_005908.4(MANBA):c.415T>C (p.Ser139Pro)
NM_005908.4(MANBA):c.426G>A (p.Leu142=)
NM_005908.4(MANBA):c.427C>T (p.Arg143Cys)
NM_005908.4(MANBA):c.42A>G (p.Ala14=)
NM_005908.4(MANBA):c.440C>T (p.Ala147Val)
NM_005908.4(MANBA):c.441G>A (p.Ala147=)
NM_005908.4(MANBA):c.462G>A (p.Gln154=)
NM_005908.4(MANBA):c.475A>G (p.Thr159Ala) rs2110193651
NM_005908.4(MANBA):c.480C>T (p.Arg160=)
NM_005908.4(MANBA):c.482A>G (p.Tyr161Cys) rs939522322
NM_005908.4(MANBA):c.483C>T (p.Tyr161=)
NM_005908.4(MANBA):c.484C>G (p.Gln162Glu)
NM_005908.4(MANBA):c.489T>C (p.Val163=)
NM_005908.4(MANBA):c.494C>T (p.Pro165Leu) rs941610876
NM_005908.4(MANBA):c.510T>A (p.Leu170=)
NM_005908.4(MANBA):c.51C>A (p.Thr17=)
NM_005908.4(MANBA):c.51C>T (p.Thr17=)
NM_005908.4(MANBA):c.520G>T (p.Gly174Cys) rs2110193570
NM_005908.4(MANBA):c.540T>C (p.Phe180=)
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln) rs759103361
NM_005908.4(MANBA):c.547A>T (p.Lys183Ter)
NM_005908.4(MANBA):c.549+18A>G
NM_005908.4(MANBA):c.549+20G>A
NM_005908.4(MANBA):c.549+7G>A
NM_005908.4(MANBA):c.549+8T>C
NM_005908.4(MANBA):c.54C>A (p.Ala18=)
NM_005908.4(MANBA):c.54C>T (p.Ala18=)
NM_005908.4(MANBA):c.550-6T>C
NM_005908.4(MANBA):c.555A>G (p.Gln185=) rs1406663874
NM_005908.4(MANBA):c.55G>A (p.Ala19Thr)
NM_005908.4(MANBA):c.564T>C (p.Phe188=)
NM_005908.4(MANBA):c.579G>A (p.Gly193=)
NM_005908.4(MANBA):c.597G>A (p.Gln199=) rs1213852355
NM_005908.4(MANBA):c.599G>C (p.Gly200Ala) rs2110273623
NM_005908.4(MANBA):c.63_64del (p.Ser22fs)
NM_005908.4(MANBA):c.646_647insGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAATATTTGTCACCTGA (p.Asn216delinsArgGluGluProArgTrpProAsnArgAsnSerSerGlyLeuGlnLeuProAlaTer)
NM_005908.4(MANBA):c.671A>G (p.Tyr224Cys)
NM_005908.4(MANBA):c.673+12G>A
NM_005908.4(MANBA):c.673+17G>A
NM_005908.4(MANBA):c.673+18A>G
NM_005908.4(MANBA):c.673+1G>A
NM_005908.4(MANBA):c.673+6C>A
NM_005908.4(MANBA):c.674-16T>C
NM_005908.4(MANBA):c.674-17T>C
NM_005908.4(MANBA):c.674-1G>C
NM_005908.4(MANBA):c.674-2A>G
NM_005908.4(MANBA):c.674-6T>A
NM_005908.4(MANBA):c.674-7A>G
NM_005908.4(MANBA):c.676A>G (p.Lys226Glu) rs750030697
NM_005908.4(MANBA):c.677del (p.Lys226fs)
NM_005908.4(MANBA):c.681T>C (p.Ser227=)
NM_005908.4(MANBA):c.683C>T (p.Ala228Val)
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter)
NM_005908.4(MANBA):c.709T>C (p.Ser237Pro)
NM_005908.4(MANBA):c.735G>A (p.Lys245=)
NM_005908.4(MANBA):c.748C>T (p.Gln250Ter)
NM_005908.4(MANBA):c.756C>T (p.Ile252=)
NM_005908.4(MANBA):c.759A>C (p.Val253=)
NM_005908.4(MANBA):c.762C>T (p.Ala254=)
NM_005908.4(MANBA):c.767C>G (p.Pro256Arg)
NM_005908.4(MANBA):c.771G>A (p.Lys257=)
NM_005908.4(MANBA):c.774G>A (p.Leu258=)
NM_005908.4(MANBA):c.780A>T (p.Thr260=) rs1318996389
NM_005908.4(MANBA):c.780dup (p.Gln261fs)
NM_005908.4(MANBA):c.781C>T (p.Gln261Ter)
NM_005908.4(MANBA):c.784C>T (p.Gln262Ter)
NM_005908.4(MANBA):c.80G>A (p.Gly27Asp)
NM_005908.4(MANBA):c.811G>T (p.Gly271Trp)
NM_005908.4(MANBA):c.815A>G (p.Lys272Arg) rs957064535
NM_005908.4(MANBA):c.819del (p.Ile274fs)
NM_005908.4(MANBA):c.822T>C (p.Ile274=)
NM_005908.4(MANBA):c.828G>A (p.Glu276=)
NM_005908.4(MANBA):c.843T>C (p.Ile281=)
NM_005908.4(MANBA):c.849+13del
NM_005908.4(MANBA):c.849+8A>G
NM_005908.4(MANBA):c.84C>T (p.Asn28=)
NM_005908.4(MANBA):c.850-10T>C
NM_005908.4(MANBA):c.850-18T>G
NM_005908.4(MANBA):c.850-19T>C
NM_005908.4(MANBA):c.850-5A>T
NM_005908.4(MANBA):c.870G>A (p.Trp290Ter)
NM_005908.4(MANBA):c.873G>A (p.Trp291Ter)
NM_005908.4(MANBA):c.885T>C (p.His295=)
NM_005908.4(MANBA):c.891C>T (p.Asn297=)
NM_005908.4(MANBA):c.897T>G (p.Thr299=)
NM_005908.4(MANBA):c.908T>A (p.Met303Lys) rs1171801333
NM_005908.4(MANBA):c.913G>A (p.Val305Ile) rs939795867
NM_005908.4(MANBA):c.916del (p.Leu306fs)
NM_005908.4(MANBA):c.921T>C (p.Phe307=)
NM_005908.4(MANBA):c.925C>T (p.Leu309=)
NM_005908.4(MANBA):c.930T>C (p.Asp310=)
NM_005908.4(MANBA):c.936C>T (p.Gly312=)
NM_005908.4(MANBA):c.950A>C (p.Lys317Thr)
NM_005908.4(MANBA):c.952T>A (p.Ser318Thr)
NM_005908.4(MANBA):c.954A>G (p.Ser318=)
NM_005908.4(MANBA):c.958A>C (p.Lys320Gln)
NM_005908.4(MANBA):c.960+14T>A
NM_005908.4(MANBA):c.960+19A>C
NM_005908.4(MANBA):c.960+9G>A
NM_005908.4(MANBA):c.961-16A>C
NM_005908.4(MANBA):c.961-2A>C rs1411236177
NM_005908.4(MANBA):c.973A>G (p.Thr325Ala)
NM_005908.4(MANBA):c.987A>G (p.Ile329Met)
NM_005908.4(MANBA):c.997A>G (p.Ile333Val)
NM_005908.4(MANBA):c.99T>C (p.Asn33=)
NM_005908.4(MANBA):c.9C>T (p.Leu3=)

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