ClinVar Miner

List of variants in gene GALC studied for Galactosylceramide beta-galactosidase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1155
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466 0.95773
NM_000153.4(GALC):c.1620A>G (p.Thr540=) rs367327 0.95611
NM_000153.4(GALC):c.1251+150C>T rs417521 0.95597
NM_000153.4(GALC):c.1834+5C>G rs448805 0.95475
NM_000153.4(GALC):c.*989G>A rs370559 0.95463
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262 0.95462
NM_000153.4(GALC):c.1835-79A>G rs417276 0.95459
NM_000153.4(GALC):c.*627A>G rs413750 0.95456
NM_000153.4(GALC):c.1339-61C>T rs398343 0.95455
NM_000153.4(GALC):c.196-43C>T rs2289511 0.59150
NM_000153.4(GALC):c.*723G>A rs412915 0.49978
NM_000153.4(GALC):c.*626C>T rs432946 0.49976
NM_000153.4(GALC):c.*1453A>G rs405567 0.49973
NM_000153.4(GALC):c.1670+60C>T rs366615 0.49953
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000153.4(GALC):c.*590T>C rs1042029 0.45472
NM_000153.4(GALC):c.*1186_*1188del rs141199615 0.45391
NM_000153.4(GALC):c.*1275G>A rs1042042 0.45032
NM_000153.4(GALC):c.1671-15C>T rs12432149 0.45011
NM_000153.4(GALC):c.*1588T>G rs17198 0.44979
NM_000153.4(GALC):c.1911+122C>G rs45567441 0.44852
NM_000153.4(GALC):c.1911+129G>A rs45626938 0.44823
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076 0.39907
NM_000153.4(GALC):c.264+108G>A rs2245387 0.30074
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666 0.29819
NM_000153.4(GALC):c.328+19T>A rs74337989 0.12002
NM_000153.4(GALC):c.753-59C>T rs17687364 0.11436
NM_000153.4(GALC):c.196-70G>A rs74689143 0.11432
NM_000153.4(GALC):c.583-56G>A rs79515863 0.11428
NM_000153.4(GALC):c.582+99C>T rs17798011 0.11427
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_000153.4(GALC):c.621+24T>C rs45568734 0.11420
NM_000153.4(GALC):c.1161+38T>C rs17687109 0.11416
NM_000153.4(GALC):c.621+63T>A rs17797987 0.11416
NM_000153.4(GALC):c.621+98T>C rs17797981 0.11415
NM_000153.4(GALC):c.329-35G>A rs77466023 0.11380
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946 0.11300
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056 0.11296
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362 0.11287
NM_000153.4(GALC):c.*1126G>A rs1042035 0.11091
NM_000153.4(GALC):c.*709A>C rs45572135 0.05219
NM_000153.4(GALC):c.1620= (p.Thr540=) rs367327 0.04389
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556 0.03162
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647 0.02565
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730 0.01792
NM_000153.4(GALC):c.*801A>T rs114174103 0.01526
NM_000153.4(GALC):c.*395C>T rs3850376 0.00770
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_000153.4(GALC):c.1788C>T (p.Phe596=) rs115018138 0.00658
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_000153.4(GALC):c.-66G>T rs146439771 0.00434
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_000153.4(GALC):c.1236T>A (p.Val412=) rs112531377 0.00321
NM_000153.4(GALC):c.1670+19A>T rs141839955 0.00298
NM_000153.4(GALC):c.913A>G (p.Ile305Val) rs74887188 0.00270
NM_000153.4(GALC):c.-463C>T rs181956126 0.00254
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137 0.00248
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000153.4(GALC):c.1862G>A (p.Arg621His) rs192911803 0.00224
NM_000153.4(GALC):c.-318T>C rs556647825 0.00210
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_000153.4(GALC):c.1632T>C (p.Asp544=) rs9672064 0.00196
NM_000153.4(GALC):c.1489+3G>A rs186664912 0.00124
NM_000153.4(GALC):c.-327G>T rs185943390 0.00120
NM_000153.4(GALC):c.530C>A (p.Thr177Asn) rs115869593 0.00116
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869 0.00107
NM_000153.4(GALC):c.15A>G (p.Leu5=) rs529350155 0.00088
NM_000153.4(GALC):c.-67T>G rs571945132 0.00070
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000153.4(GALC):c.*1451C>A rs138919458 0.00054
NM_000153.4(GALC):c.1434G>A (p.Pro478=) rs200231860 0.00042
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) rs73312829 0.00041
NM_000153.4(GALC):c.1147A>G (p.Ile383Val) rs199723885 0.00036
NM_000153.4(GALC):c.49A>G (p.Met17Val) rs376662045 0.00029
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480 0.00023
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180 0.00019
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000153.4(GALC):c.708C>T (p.Ser236=) rs773666802 0.00017
NM_000153.4(GALC):c.1251+18A>G rs369997150 0.00016
NM_000153.4(GALC):c.1335A>G (p.Leu445=) rs373277798 0.00015
NM_000153.4(GALC):c.1629C>T (p.Ala543=) rs201055535 0.00015
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) rs370952794 0.00013
NM_000153.4(GALC):c.2034C>T (p.Asn678=) rs183869279 0.00013
NM_000153.4(GALC):c.60C>T (p.Ala20=) rs188488238 0.00013
NM_000153.4(GALC):c.328+6A>G rs201977747 0.00011
NM_000153.4(GALC):c.82G>A (p.Ala28Thr) rs776663863 0.00011
NM_000153.4(GALC):c.828T>C (p.Phe276=) rs368679728 0.00010
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser) rs200516260 0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000153.4(GALC):c.1803A>G (p.Ala601=) rs372465848 0.00009
NM_000153.4(GALC):c.909-4T>G rs201884281 0.00009
NM_000153.4(GALC):c.*405A>G rs143839879 0.00008
NM_000153.4(GALC):c.*1458T>C rs757918900 0.00006
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656 0.00006
NM_000153.4(GALC):c.1584C>T (p.Phe528=) rs753565491 0.00006
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122 0.00006
NM_000153.4(GALC):c.1819G>T (p.Val607Phe) rs929215561 0.00006
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260 0.00006
NM_000153.4(GALC):c.206G>A (p.Arg69Gln) rs371523347 0.00006
NM_000153.4(GALC):c.265-2A>G rs199710405 0.00006
NM_000153.4(GALC):c.53C>T (p.Thr18Ile) rs755139799 0.00006
NM_000153.4(GALC):c.-63C>G rs1055562642 0.00004
NM_000153.4(GALC):c.1034-4A>G rs775263627 0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205 0.00004
NM_000153.4(GALC):c.1619C>T (p.Thr540Ile) rs557464603 0.00004
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn) rs540808138 0.00004
NM_000153.4(GALC):c.1861C>T (p.Arg621Cys) rs755930402 0.00004
NM_000153.4(GALC):c.196-9T>C rs776907825 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) rs778447883 0.00004
NM_000153.4(GALC):c.264+12A>G rs199758464 0.00004
NM_000153.4(GALC):c.28T>C (p.Trp10Arg) rs767913083 0.00004
NM_000153.4(GALC):c.329-14T>C rs375242461 0.00004
NM_000153.4(GALC):c.332G>A (p.Gly111Asp) rs746487628 0.00004
NM_000153.4(GALC):c.500A>G (p.Asn167Ser) rs768993170 0.00004
NM_000153.4(GALC):c.543C>T (p.Gly181=) rs772338291 0.00004
NM_000153.4(GALC):c.639G>C (p.Leu213=) rs373343608 0.00004
NM_000153.4(GALC):c.714C>T (p.Leu238=) rs748497197 0.00004
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000153.4(GALC):c.1380A>G (p.Glu460=) rs1370652050 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000153.4(GALC):c.1702A>G (p.Ile568Val) rs371792183 0.00003
NM_000153.4(GALC):c.1791C>T (p.Phe597=) rs1002946173 0.00003
NM_000153.4(GALC):c.1946C>T (p.Ser649Phe) rs1158521193 0.00003
NM_000153.4(GALC):c.2035T>C (p.Phe679Leu) rs779202612 0.00003
NM_000153.4(GALC):c.23C>T (p.Ala8Val) rs376511103 0.00003
NM_000153.4(GALC):c.348C>T (p.His116=) rs756456886 0.00003
NM_000153.4(GALC):c.388G>A (p.Glu130Lys) rs374635469 0.00003
NM_000153.4(GALC):c.434C>T (p.Thr145Ile) rs781281519 0.00003
NM_000153.4(GALC):c.459C>T (p.Phe153=) rs774472326 0.00003
NM_000153.4(GALC):c.462T>C (p.Pro154=) rs748295031 0.00003
NM_000153.4(GALC):c.537T>C (p.Ile179=) rs776341276 0.00003
NM_000153.4(GALC):c.723C>T (p.Ala241=) rs778552414 0.00003
NM_000153.4(GALC):c.752+20G>C rs375231645 0.00003
NM_000153.4(GALC):c.788C>G (p.Ala263Gly) rs1292976689 0.00003
NM_000153.4(GALC):c.839A>G (p.Asn280Ser) rs1463589873 0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448 0.00003
NM_000153.4(GALC):c.94C>A (p.Leu32Met) rs770807058 0.00003
NM_000153.4(GALC):c.1188G>T (p.Arg396=) rs1348158663 0.00002
NM_000153.4(GALC):c.122G>C (p.Gly41Ala) rs1287272360 0.00002
NM_000153.4(GALC):c.1252-4A>G rs371282554 0.00002
NM_000153.4(GALC):c.1252-5T>C rs748772697 0.00002
NM_000153.4(GALC):c.1269A>G (p.Leu423=) rs756070678 0.00002
NM_000153.4(GALC):c.1419C>T (p.Arg473=) rs1231722280 0.00002
NM_000153.4(GALC):c.1453C>T (p.Pro485Ser) rs771051919 0.00002
NM_000153.4(GALC):c.1587G>A (p.Thr529=) rs184748969 0.00002
NM_000153.4(GALC):c.1671-1G>A rs1182103005 0.00002
NM_000153.4(GALC):c.1671-8T>A rs570766960 0.00002
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) rs766007316 0.00002
NM_000153.4(GALC):c.1912-7A>G rs376302808 0.00002
NM_000153.4(GALC):c.318G>A (p.Gly106=) rs886050867 0.00002
NM_000153.4(GALC):c.391T>C (p.Trp131Arg) rs746507078 0.00002
NM_000153.4(GALC):c.430del (p.Ile144fs) rs775277935 0.00002
NM_000153.4(GALC):c.448C>T (p.Pro150Ser) rs372568602 0.00002
NM_000153.4(GALC):c.57G>T (p.Ala19=) rs1015595560 0.00002
NM_000153.4(GALC):c.583-4G>T rs751820306 0.00002
NM_000153.4(GALC):c.610A>C (p.Asn204His) rs372406289 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000153.4(GALC):c.674C>A (p.Ala225Glu) rs373077659 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000153.4(GALC):c.909-10A>G rs398123178 0.00002
NM_000153.4(GALC):c.915C>T (p.Ile305=) rs764592856 0.00002
NM_000153.4(GALC):c.990A>G (p.Pro330=) rs370211494 0.00002
NM_000153.2(GALC):c.-261C>A rs1307710694 0.00001
NM_000153.3(GALC):c.-21C>T rs768255795 0.00001
NM_000153.4(GALC):c.*12G>A rs372641636 0.00001
NM_000153.4(GALC):c.*14A>G rs143444570 0.00001
NM_000153.4(GALC):c.-17G>A rs886050868 0.00001
NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys) rs757407613 0.00001
NM_000153.4(GALC):c.1005C>T (p.Tyr335=) rs1319599087 0.00001
NM_000153.4(GALC):c.1014A>G (p.Glu338=) rs371096411 0.00001
NM_000153.4(GALC):c.1027G>T (p.Val343Leu) rs753217734 0.00001
NM_000153.4(GALC):c.108G>A (p.Leu36=) rs923261706 0.00001
NM_000153.4(GALC):c.108G>T (p.Leu36=) rs923261706 0.00001
NM_000153.4(GALC):c.1146C>T (p.Ile382=) rs769253796 0.00001
NM_000153.4(GALC):c.114G>T (p.Ala38=) rs749514611 0.00001
NM_000153.4(GALC):c.1172A>G (p.His391Arg) rs1395397636 0.00001
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro) rs1200769534 0.00001
NM_000153.4(GALC):c.117C>T (p.Pro39=) rs962360205 0.00001
NM_000153.4(GALC):c.1184T>C (p.Ile395Thr) rs569569879 0.00001
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208 0.00001
NM_000153.4(GALC):c.118G>A (p.Gly40Ser) rs780050514 0.00001
NM_000153.4(GALC):c.1191A>G (p.Pro397=) rs376181222 0.00001
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu) rs1365128831 0.00001
NM_000153.4(GALC):c.1251+7A>C rs1257896807 0.00001
NM_000153.4(GALC):c.1252-2A>G rs1166863449 0.00001
NM_000153.4(GALC):c.1252-9T>C rs768173742 0.00001
NM_000153.4(GALC):c.1280A>G (p.Tyr427Cys) rs201591903 0.00001
NM_000153.4(GALC):c.1281T>C (p.Tyr427=) rs758736879 0.00001
NM_000153.4(GALC):c.1332T>C (p.Ser444=) rs1595198074 0.00001
NM_000153.4(GALC):c.1400C>A (p.Thr467Asn) rs750431739 0.00001
NM_000153.4(GALC):c.1418G>A (p.Arg473His) rs374868151 0.00001
NM_000153.4(GALC):c.1436T>C (p.Leu479Pro) rs1414778573 0.00001
NM_000153.4(GALC):c.1441C>T (p.Pro481Ser) rs759122249 0.00001
NM_000153.4(GALC):c.1443A>G (p.Pro481=) rs1359281521 0.00001
NM_000153.4(GALC):c.1467C>T (p.Thr489=) rs1885131050 0.00001
NM_000153.4(GALC):c.1489+9T>C rs747839251 0.00001
NM_000153.4(GALC):c.1490-6G>A rs773214484 0.00001
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319 0.00001
NM_000153.4(GALC):c.1551T>C (p.Phe517=) rs1230432398 0.00001
NM_000153.4(GALC):c.1572C>T (p.Gly524=) rs753164684 0.00001
NM_000153.4(GALC):c.1575G>A (p.Glu525=) rs755353417 0.00001
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) rs749893889 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754 0.00001
NM_000153.4(GALC):c.1670+10A>G rs1050027845 0.00001
NM_000153.4(GALC):c.1695T>C (p.Asp565=) rs1283585586 0.00001
NM_000153.4(GALC):c.1710C>G (p.Thr570=) rs767710271 0.00001
NM_000153.4(GALC):c.1710C>T (p.Thr570=) rs767710271 0.00001
NM_000153.4(GALC):c.1723_1724insT (p.Gly575fs) rs1405488688 0.00001
NM_000153.4(GALC):c.1727T>C (p.Val576Ala) rs774555128 0.00001
NM_000153.4(GALC):c.1752A>G (p.Lys584=) rs201016488 0.00001
NM_000153.4(GALC):c.1760T>C (p.Ile587Thr) rs368818550 0.00001
NM_000153.4(GALC):c.1824A>G (p.Thr608=) rs1220077307 0.00001
NM_000153.4(GALC):c.1835-20A>T rs372755909 0.00001
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg) rs779864190 0.00001
NM_000153.4(GALC):c.1871T>A (p.Val624Asp) rs1308536313 0.00001
NM_000153.4(GALC):c.1878A>C (p.Ala626=) rs765726355 0.00001
NM_000153.4(GALC):c.1893A>G (p.Thr631=) rs1157035657 0.00001
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro) rs1418694289 0.00001
NM_000153.4(GALC):c.1896C>G (p.Leu632=) rs1884764241 0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met) rs766762599 0.00001
NM_000153.4(GALC):c.1911+7A>G rs1315938947 0.00001
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) rs769851272 0.00001
NM_000153.4(GALC):c.1913G>T (p.Gly638Val) rs1162671660 0.00001
NM_000153.4(GALC):c.1947T>C (p.Ser649=) rs924881775 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000153.4(GALC):c.196-7T>C rs1302684850 0.00001
NM_000153.4(GALC):c.2001A>C (p.Gly667=) rs769902280 0.00001
NM_000153.4(GALC):c.201C>G (p.Thr67=) rs1384569360 0.00001
NM_000153.4(GALC):c.2022A>G (p.Ala674=) rs770785840 0.00001
NM_000153.4(GALC):c.2054G>A (p.Arg685His) rs529469325 0.00001
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145 0.00001
NM_000153.4(GALC):c.233A>G (p.Tyr78Cys) rs367958957 0.00001
NM_000153.4(GALC):c.247T>C (p.Leu83=) rs753469861 0.00001
NM_000153.4(GALC):c.251A>G (p.Asp84Gly) rs1555383882 0.00001
NM_000153.4(GALC):c.264+10A>G rs781394926 0.00001
NM_000153.4(GALC):c.27C>T (p.Ser9=) rs1397626290 0.00001
NM_000153.4(GALC):c.2T>A (p.Met1Lys) rs780972896 0.00001
NM_000153.4(GALC):c.328+1G>T rs779701490 0.00001
NM_000153.4(GALC):c.329-6A>G rs1279980405 0.00001
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) rs756690487 0.00001
NM_000153.4(GALC):c.379C>T (p.Arg127Ter) rs200532368 0.00001
NM_000153.4(GALC):c.387C>T (p.Tyr129=) rs1240965365 0.00001
NM_000153.4(GALC):c.3G>A (p.Met1Ile) rs758685128 0.00001
NM_000153.4(GALC):c.40G>A (p.Ala14Thr) rs1180517690 0.00001
NM_000153.4(GALC):c.426C>T (p.Pro142=) rs754765375 0.00001
NM_000153.4(GALC):c.443-12T>G rs886038261 0.00001
NM_000153.4(GALC):c.450A>G (p.Pro150=) rs886050866 0.00001
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866 0.00001
NM_000153.4(GALC):c.461C>A (p.Pro154His) rs758557526 0.00001
NM_000153.4(GALC):c.465A>G (p.Gly155=) rs755488240 0.00001
NM_000153.4(GALC):c.483C>T (p.Phe161=) rs373159695 0.00001
NM_000153.4(GALC):c.486C>A (p.Asp162Glu) rs767286511 0.00001
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) rs761550284 0.00001
NM_000153.4(GALC):c.48T>C (p.Ala16=) rs1198647597 0.00001
NM_000153.4(GALC):c.582+1G>A rs750881596 0.00001
NM_000153.4(GALC):c.582+5G>A rs757016859 0.00001
NM_000153.4(GALC):c.583-6T>A rs398123176 0.00001
NM_000153.4(GALC):c.592G>A (p.Glu198Lys) rs909979938 0.00001
NM_000153.4(GALC):c.600A>G (p.Ser200=) rs777493633 0.00001
NM_000153.4(GALC):c.621+11_621+13del rs1567007639 0.00001
NM_000153.4(GALC):c.621+1G>A rs759511006 0.00001
NM_000153.4(GALC):c.622-1G>T rs1886499951 0.00001
NM_000153.4(GALC):c.645T>C (p.Tyr215=) rs1345934268 0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000153.4(GALC):c.705A>G (p.Ala235=) rs771534115 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000153.4(GALC):c.752+3A>G rs1567000413 0.00001
NM_000153.4(GALC):c.753-5T>C rs745331282 0.00001
NM_000153.4(GALC):c.787G>A (p.Ala263Thr) rs1308816724 0.00001
NM_000153.4(GALC):c.798T>C (p.Thr266=) rs1482888449 0.00001
NM_000153.4(GALC):c.804G>A (p.Lys268=) rs754144462 0.00001
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028 0.00001
NM_000153.4(GALC):c.84G>A (p.Ala28=) rs1246098637 0.00001
NM_000153.4(GALC):c.855A>T (p.Ala285=) rs1195240524 0.00001
NM_000153.4(GALC):c.863G>A (p.Trp288Ter) rs372621124 0.00001
NM_000153.4(GALC):c.869G>A (p.Arg290His) rs746806459 0.00001
NM_000153.4(GALC):c.908+1G>A rs750524447 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000153.4(GALC):c.916G>A (p.Ala306Thr) rs1349064845 0.00001
NM_000153.4(GALC):c.927A>C (p.Leu309Phe) rs758904079 0.00001
NM_000153.4(GALC):c.949T>A (p.Leu317Met) rs766071179 0.00001
NM_000153.4(GALC):c.957T>C (p.Tyr319=) rs1158171614 0.00001
NM_000153.4(GALC):c.970T>C (p.Leu324=) rs1194954694 0.00001
NM_000153.4(GALC):c.978G>A (p.Thr326=) rs1214736198 0.00001
NM_000153.4(GALC):c.982C>T (p.Gln328Ter) rs1337518083 0.00001
GRCh37/hg19 14q31.3(chr14:88391502-88423172)
GRCh37/hg19 14q31.3(chr14:88399828-88422607)
NC_000014.8:g.(?_88391503)_88423172del
NC_000014.8:g.(?_88391504)_88423173del
NC_000014.8:g.(?_88391504)_88423174del
NC_000014.8:g.(?_88399357)_(88417093_88429727)del
NC_000014.8:g.(?_88401064)_(88406335_?)del
NC_000014.8:g.(?_88411887)_(88417102_?)dup
NC_000014.8:g.(?_88416169)_(88459863_?)dup
NC_000014.8:g.(?_88417067)_(88429464_?)del
NC_000014.8:g.(?_88431839)_(88434844_?)del
NC_000014.8:g.(?_88434669)_(88434844_?)del
NC_000014.8:g.(?_88448539)_(88459971_?)del
NC_000014.9:g.(?_87934712)_(87949951_?)del
NC_000014.9:g.(?_87934712)_(87950768_?)del
NC_000014.9:g.(?_87934720)_(87950758_?)del
NC_000014.9:g.(?_87949835)_(87949941_?)del
NC_000014.9:g.(?_87963374)_(87963521_?)del
NC_000014.9:g.(?_87963374)_(87963521_?)dup
NC_000014.9:g.(?_87965495)_(87968500_?)dup
NC_000014.9:g.(?_87968315)_(87968510_?)del
NC_000014.9:g.(?_87992960)_(87993627_?)del
NC_000014.9:g.87925139C>T rs1555377065
NC_000014.9:g.87925152T>C rs1555377066
NC_000014.9:g.87925163_87956828del
NC_000014.9:g.87925176G>A rs1234372203
NM_000153.2(GALC):c.-218G>C rs1555384433
NM_000153.2(GALC):c.-219dup rs1555384436
NM_000153.2(GALC):c.-234delGinsTTCC rs1555384440
NM_000153.2(GALC):c.-257dup rs1555384444
NM_000153.2(GALC):c.-285dup rs1482465546
NM_000153.2(GALC):c.-296dup rs1555384458
NM_000153.2(GALC):c.-317delG rs1555384465
NM_000153.3(GALC):c.-31delC rs886050869
NM_000153.3(GALC):c.-73G>A rs1887315658
NM_000153.3(GALC):c.-85T>A rs886050870
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.4(GALC):c.*1584G>A rs893698376
NM_000153.4(GALC):c.*1598G>A rs574189020
NM_000153.4(GALC):c.*1625A>G rs188934153
NM_000153.4(GALC):c.*363A>G rs539617222
NM_000153.4(GALC):c.*366A>G rs1884480659
NM_000153.4(GALC):c.*375A>G rs1884480331
NM_000153.4(GALC):c.*389G>T rs1884479809
NM_000153.4(GALC):c.*455A>G rs1884476134
NM_000153.4(GALC):c.*486C>G rs1280004708
NM_000153.4(GALC):c.*499T>C rs1226531123
NM_000153.4(GALC):c.*591G>A rs886050863
NM_000153.4(GALC):c.*877T>A rs185181747
NM_000153.4(GALC):c.*994C>A rs1884455084
NM_000153.4(GALC):c.*999T>C rs1267707327
NM_000153.4(GALC):c.-287G>A rs73312836
NM_000153.4(GALC):c.-68C>T rs369469562
NM_000153.4(GALC):c.-80_-75delATCAGC rs564526560
NM_000153.4(GALC):c.1002C>T (p.His334=)
NM_000153.4(GALC):c.1008G>A (p.Val336=)
NM_000153.4(GALC):c.1008G>T (p.Val336=)
NM_000153.4(GALC):c.1012del (p.Glu338fs) rs1057516469
NM_000153.4(GALC):c.1021del (p.Val341fs) rs1057517382
NM_000153.4(GALC):c.1023C>G (p.Val341=) rs2139996078
NM_000153.4(GALC):c.1029A>G (p.Val343=) rs1389188299
NM_000153.4(GALC):c.102_103delinsAT (p.Cys34_Ala35delinsTer) rs2139769498
NM_000153.4(GALC):c.1031C>A (p.Ser344Ter)
NM_000153.4(GALC):c.1033+11G>A
NM_000153.4(GALC):c.1033+14C>G
NM_000153.4(GALC):c.1033+1G>A rs2139996044
NM_000153.4(GALC):c.1033+20C>T
NM_000153.4(GALC):c.1034-13T>C
NM_000153.4(GALC):c.1034-1G>C
NM_000153.4(GALC):c.1034-2A>G
NM_000153.4(GALC):c.1038T>C (p.His346=)
NM_000153.4(GALC):c.103G>A (p.Ala35Thr) rs1359964555
NM_000153.4(GALC):c.1042A>G (p.Thr348Ala) rs200516260
NM_000153.4(GALC):c.1047G>A (p.Gln349=) rs1475461759
NM_000153.4(GALC):c.1049T>G (p.Phe350Cys)
NM_000153.4(GALC):c.1056A>G (p.Gln352=)
NM_000153.4(GALC):c.1059T>C (p.Pro353=) rs2139992186
NM_000153.4(GALC):c.105G>A (p.Ala35=)
NM_000153.4(GALC):c.1065G>A (p.Trp355Ter) rs1057516270
NM_000153.4(GALC):c.1068T>C (p.Tyr356=) rs1349405657
NM_000153.4(GALC):c.1068T>G (p.Tyr356Ter)
NM_000153.4(GALC):c.1072C>G (p.Leu358Val)
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs) rs1555381439
NM_000153.4(GALC):c.1078A>G (p.Thr360Ala) rs1298443144
NM_000153.4(GALC):c.1078A>T (p.Thr360Ser)
NM_000153.4(GALC):c.1081G>A (p.Val361Ile)
NM_000153.4(GALC):c.1083dup (p.Gly362fs) rs767236077
NM_000153.4(GALC):c.1086C>G (p.Gly362=) rs2139992095
NM_000153.4(GALC):c.1092A>G (p.Leu364=)
NM_000153.4(GALC):c.1098A>G (p.Lys366=)
NM_000153.4(GALC):c.1102G>T (p.Gly368Ter)
NM_000153.4(GALC):c.1109_1110delinsCG (p.Tyr370Ser)
NM_000153.4(GALC):c.110_123dup (p.Ala42fs) rs1555384342
NM_000153.4(GALC):c.1110C>T (p.Tyr370=) rs372793797
NM_000153.4(GALC):c.1114G>A (p.Ala372Thr) rs759286485
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser) rs759286485
NM_000153.4(GALC):c.111G>C (p.Leu37=)
NM_000153.4(GALC):c.1123_1129dup (p.Leu377Ter)
NM_000153.4(GALC):c.112dup (p.Ala38fs)
NM_000153.4(GALC):c.1131A>G (p.Leu377=) rs2139991961
NM_000153.4(GALC):c.1149C>T (p.Ile383=) rs2139991910
NM_000153.4(GALC):c.1150A>G (p.Ile384Val) rs1192791166
NM_000153.4(GALC):c.1151T>A (p.Ile384Asn)
NM_000153.4(GALC):c.1151T>C (p.Ile384Thr)
NM_000153.4(GALC):c.1153G>T (p.Glu385Ter) rs121908010
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1159A>G (p.Met387Val)
NM_000153.4(GALC):c.1161+1del rs1555381417
NM_000153.4(GALC):c.1161+20A>G
NM_000153.4(GALC):c.1161+2T>A
NM_000153.4(GALC):c.1161+7T>G
NM_000153.4(GALC):c.1161+9T>C rs1885891419
NM_000153.4(GALC):c.1162-10T>G rs1368917874
NM_000153.4(GALC):c.1162-14T>C
NM_000153.4(GALC):c.1162-16G>C
NM_000153.4(GALC):c.1162-1G>A
NM_000153.4(GALC):c.1162-4T>C
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1162-4dup rs11300320
NM_000153.4(GALC):c.1162-5T>C rs2139963791
NM_000153.4(GALC):c.1162-5_1162-4del rs11300320
NM_000153.4(GALC):c.1162-5_1162-4delinsC rs1555379806
NM_000153.4(GALC):c.1162-6_1162-5delinsA rs1555379811
NM_000153.4(GALC):c.1162-7T>C
NM_000153.4(GALC):c.1165C>G (p.His389Asp) rs368284541
NM_000153.4(GALC):c.1167T>C (p.His389=) rs2139963723
NM_000153.4(GALC):c.1168A>G (p.Lys390Glu) rs2139963715
NM_000153.4(GALC):c.1168A>T (p.Lys390Ter)
NM_000153.4(GALC):c.1170A>G (p.Lys390=) rs1885269944
NM_000153.4(GALC):c.1171_1175delinsA (p.His391fs) rs1885269233
NM_000153.4(GALC):c.1174del (p.Ser392fs)
NM_000153.4(GALC):c.1178del (p.Lys393fs)
NM_000153.4(GALC):c.117C>G (p.Pro39=) rs962360205
NM_000153.4(GALC):c.117del (p.Gly40fs)
NM_000153.4(GALC):c.1183A>C (p.Ile395Leu) rs763125933
NM_000153.4(GALC):c.1185A>T (p.Ile395=)
NM_000153.4(GALC):c.1185dup (p.Arg396fs) rs1885268471
NM_000153.4(GALC):c.1186C>A (p.Arg396=) rs770485731
NM_000153.4(GALC):c.1188G>A (p.Arg396=)
NM_000153.4(GALC):c.119G>A (p.Gly40Asp) rs572947747
NM_000153.4(GALC):c.119G>C (p.Gly40Ala)
NM_000153.4(GALC):c.11G>A (p.Trp4Ter)
NM_000153.4(GALC):c.11_14dup (p.Leu6fs)
NM_000153.4(GALC):c.1200T>G (p.Pro400=)
NM_000153.4(GALC):c.1202A>G (p.Tyr401Cys)
NM_000153.4(GALC):c.1203T>C (p.Tyr401=)
NM_000153.4(GALC):c.1206C>G (p.Phe402Leu)
NM_000153.4(GALC):c.1206C>T (p.Phe402=) rs2139963547
NM_000153.4(GALC):c.1208A>G (p.Asn403Ser) rs777305549
NM_000153.4(GALC):c.1209T>C (p.Asn403=)
NM_000153.4(GALC):c.120C>A (p.Gly40=) rs532800656
NM_000153.4(GALC):c.1213T>A (p.Ser405Thr)
NM_000153.4(GALC):c.1213_1214insTA (p.Ser405fs) rs1885266822
NM_000153.4(GALC):c.121G>A (p.Gly41Ser) rs387906955
NM_000153.4(GALC):c.1221A>T (p.Gln407His)
NM_000153.4(GALC):c.1225G>T (p.Ala409Ser)
NM_000153.4(GALC):c.1227C>T (p.Ala409=) rs2139963484
NM_000153.4(GALC):c.1230del (p.Phe411fs)
NM_000153.4(GALC):c.1239T>G (p.Leu413=)
NM_000153.4(GALC):c.1240A>T (p.Lys414Ter)
NM_000153.4(GALC):c.1242G>A (p.Lys414=)
NM_000153.4(GALC):c.1247C>G (p.Ser416Cys)
NM_000153.4(GALC):c.1251+19C>T
NM_000153.4(GALC):c.1251+1del
NM_000153.4(GALC):c.1251+5G>A rs755870379
NM_000153.4(GALC):c.1251+5G>C
NM_000153.4(GALC):c.1251+5_1251+8del
NM_000153.4(GALC):c.1251+9del rs2139963339
NM_000153.4(GALC):c.1252-10T>G rs1595198237
NM_000153.4(GALC):c.1252-13C>G
NM_000153.4(GALC):c.1252-1G>C rs2139961690
NM_000153.4(GALC):c.1252-3C>T
NM_000153.4(GALC):c.1252-6T>C
NM_000153.4(GALC):c.1252-7T>C rs2139961710
NM_000153.4(GALC):c.1252-8C>A rs1327279405
NM_000153.4(GALC):c.1252-9_1252-5del
NM_000153.4(GALC):c.1257A>G (p.Glu419=)
NM_000153.4(GALC):c.1266G>A (p.Glu422=)
NM_000153.4(GALC):c.1268T>C (p.Leu423Pro) rs1566976644
NM_000153.4(GALC):c.1270C>T (p.Gln424Ter) rs2139961653
NM_000153.4(GALC):c.1272_1273insTAG (p.Val425Ter) rs1057517372
NM_000153.4(GALC):c.1273del (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.1273dup (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.1276T>G (p.Trp426Gly) rs2139961618
NM_000153.4(GALC):c.1285_1324del (p.Lys429fs) rs2139961448
NM_000153.4(GALC):c.1291G>T (p.Gly431Ter) rs2139961576
NM_000153.4(GALC):c.1293A>G (p.Gly431=) rs1033051287
NM_000153.4(GALC):c.1297_1298insT (p.Thr433fs)
NM_000153.4(GALC):c.1297dup (p.Thr433fs)
NM_000153.4(GALC):c.1298C>T (p.Thr433Ile)
NM_000153.4(GALC):c.1302C>G (p.Ser434=)
NM_000153.4(GALC):c.1303G>A (p.Glu435Lys)
NM_000153.4(GALC):c.1305A>G (p.Glu435=) rs2139961496
NM_000153.4(GALC):c.1308A>G (p.Arg436=)
NM_000153.4(GALC):c.1318A>T (p.Lys440Ter)
NM_000153.4(GALC):c.1321C>T (p.Gln441Ter)
NM_000153.4(GALC):c.1335_1336del (p.Trp446fs) rs1885229622
NM_000153.4(GALC):c.1338+16A>G
NM_000153.4(GALC):c.1338+16A>T rs1192426175
NM_000153.4(GALC):c.1338+16del
NM_000153.4(GALC):c.1338+19C>T
NM_000153.4(GALC):c.1338+1G>C rs1555379669
NM_000153.4(GALC):c.1338+1G>T rs1555379669
NM_000153.4(GALC):c.1338G>C (p.Trp446Cys) rs2139961409
NM_000153.4(GALC):c.1339-10T>C rs1566974690
NM_000153.4(GALC):c.1339-16G>A
NM_000153.4(GALC):c.1339-19G>T
NM_000153.4(GALC):c.1339-1G>T rs1885138493
NM_000153.4(GALC):c.1339-20A>G
NM_000153.4(GALC):c.1339-28_1339-12dup
NM_000153.4(GALC):c.1339-8dup rs779423756
NM_000153.4(GALC):c.1339-9_1339-8del
NM_000153.4(GALC):c.1340_1341delinsAT (p.Leu447His)
NM_000153.4(GALC):c.1347C>T (p.Asp449=)
NM_000153.4(GALC):c.1348A>G (p.Ser450Gly) rs1019851510
NM_000153.4(GALC):c.1350C>G (p.Ser450Arg)
NM_000153.4(GALC):c.1351G>T (p.Asp451Tyr) rs557778528
NM_000153.4(GALC):c.1355G>A (p.Gly452Asp) rs1057520151
NM_000153.4(GALC):c.1358G>T (p.Ser453Ile) rs2139956768
NM_000153.4(GALC):c.1359T>C (p.Ser453=)
NM_000153.4(GALC):c.1361dup (p.Thr455fs)
NM_000153.4(GALC):c.1362C>T (p.Phe454=) rs2139956762
NM_000153.4(GALC):c.1364C>T (p.Thr455Ile)
NM_000153.4(GALC):c.1365_1366del (p.Leu456fs)
NM_000153.4(GALC):c.1366C>G (p.Leu456Val)
NM_000153.4(GALC):c.1366C>T (p.Leu456=) rs2139956743
NM_000153.4(GALC):c.1367T>C (p.Leu456Pro)
NM_000153.4(GALC):c.1367_1368del (p.Leu456fs) rs2139956734
NM_000153.4(GALC):c.1370G>A (p.Ser457Asn) rs1195834672
NM_000153.4(GALC):c.1370G>T (p.Ser457Ile) rs1195834672
NM_000153.4(GALC):c.1371C>T (p.Ser457=) rs2139956714
NM_000153.4(GALC):c.1374G>A (p.Leu458=) rs375620970
NM_000153.4(GALC):c.1374G>T (p.Leu458=)
NM_000153.4(GALC):c.1376A>G (p.His459Arg) rs755193670
NM_000153.4(GALC):c.1383T>C (p.Asp461=) rs2139956673
NM_000153.4(GALC):c.1385A>C (p.Glu462Ala)
NM_000153.4(GALC):c.1386G>A (p.Glu462=)
NM_000153.4(GALC):c.1392C>A (p.Phe464Leu) rs1313792705
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile) rs1566974586
NM_000153.4(GALC):c.1395A>G (p.Thr465=)
NM_000153.4(GALC):c.1396C>A (p.Leu466Ile)
NM_000153.4(GALC):c.1398C>T (p.Leu466=) rs2139956617
NM_000153.4(GALC):c.13C>T (p.Leu5=) rs1251422660
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile) rs750431739
NM_000153.4(GALC):c.1405C>G (p.Leu469Val)
NM_000153.4(GALC):c.1405C>T (p.Leu469Phe)
NM_000153.4(GALC):c.1407C>A (p.Leu469=)
NM_000153.4(GALC):c.1411_1432del (p.Thr471fs) rs2139956480
NM_000153.4(GALC):c.1417C>T (p.Arg473Cys)
NM_000153.4(GALC):c.1420A>T (p.Lys474Ter)
NM_000153.4(GALC):c.1426dup (p.Ser476fs) rs1057517082
NM_000153.4(GALC):c.1433del (p.Pro478fs) rs2139956468
NM_000153.4(GALC):c.1437T>G (p.Leu479=)
NM_000153.4(GALC):c.1437dup (p.Pro480fs)
NM_000153.4(GALC):c.1450C>T (p.Gln484Ter)
NM_000153.4(GALC):c.1450del (p.Gln484fs)
NM_000153.4(GALC):c.1451_1455del (p.Gln484fs)
NM_000153.4(GALC):c.1452G>A (p.Gln484=)
NM_000153.4(GALC):c.1460C>T (p.Pro487Leu)
NM_000153.4(GALC):c.1464T>C (p.Ser488=)
NM_000153.4(GALC):c.1465dup (p.Thr489fs) rs2139956343
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1469A>G (p.Tyr490Cys)
NM_000153.4(GALC):c.1472del (p.Lys491fs) rs771489305
NM_000153.4(GALC):c.1489+1G>A rs2139956292
NM_000153.4(GALC):c.1489+1G>C
NM_000153.4(GALC):c.1489+6T>G
NM_000153.4(GALC):c.1489+7A>G
NM_000153.4(GALC):c.1490-11A>G
NM_000153.4(GALC):c.1490-11A>T
NM_000153.4(GALC):c.1490-13dup
NM_000153.4(GALC):c.1490-19T>C
NM_000153.4(GALC):c.1490-4A>G
NM_000153.4(GALC):c.1490-7T>A rs1885047183
NM_000153.4(GALC):c.1490-8C>G rs1362723313
NM_000153.4(GALC):c.1496C>T (p.Pro499Leu) rs2139951685
NM_000153.4(GALC):c.14T>C (p.Leu5Pro)
NM_000153.4(GALC):c.1506T>C (p.Ser502=) rs2139951654
NM_000153.4(GALC):c.1507G>T (p.Glu503Ter)
NM_000153.4(GALC):c.1509A>G (p.Glu503=) rs2139951641
NM_000153.4(GALC):c.1519T>C (p.Phe507Leu) rs1555379155
NM_000153.4(GALC):c.1523C>T (p.Ala508Val) rs2139951602
NM_000153.4(GALC):c.1536T>C (p.Gly512=)
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.1561G>A (p.Glu521Lys)
NM_000153.4(GALC):c.1571del (p.Gly524fs)
NM_000153.4(GALC):c.1572C>A (p.Gly524=)
NM_000153.4(GALC):c.1577A>G (p.His526Arg) rs2139951434
NM_000153.4(GALC):c.1587G>T (p.Thr529=) rs184748969
NM_000153.4(GALC):c.1589T>C (p.Leu530Pro) rs2139951392
NM_000153.4(GALC):c.1590A>T (p.Leu530=) rs2139951380
NM_000153.4(GALC):c.1592G>C (p.Arg531Pro) rs200378205
NM_000153.4(GALC):c.1592G>T (p.Arg531Leu) rs200378205
NM_000153.4(GALC):c.1599T>C (p.Val533=) rs1461334592
NM_000153.4(GALC):c.1608G>A (p.Gln536=)
NM_000153.4(GALC):c.1613delinsACTCAGCAG (p.Pro538fs)
NM_000153.4(GALC):c.1614C>T (p.Pro538=)
NM_000153.4(GALC):c.1622G>T (p.Trp541Leu) rs2139951226
NM_000153.4(GALC):c.1623G>A (p.Trp541Ter)
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu) rs1289015582
NM_000153.4(GALC):c.1638C>T (p.Ser546=)
NM_000153.4(GALC):c.1642A>G (p.Thr548Ala) rs886050864
NM_000153.4(GALC):c.1648dup (p.Ser550fs) rs2139951107
NM_000153.4(GALC):c.1662C>T (p.Asp554=)
NM_000153.4(GALC):c.1667A>G (p.Asn556Ser)
NM_000153.4(GALC):c.1670+19A>G
NM_000153.4(GALC):c.1670+1G>A rs749597090
NM_000153.4(GALC):c.1670+1G>T rs749597090
NM_000153.4(GALC):c.1670+6A>G
NM_000153.4(GALC):c.1670+7T>C
NM_000153.4(GALC):c.1671-10dup
NM_000153.4(GALC):c.1671-15_1671-14del
NM_000153.4(GALC):c.1671-20T>C
NM_000153.4(GALC):c.1671-2A>G
NM_000153.4(GALC):c.1671-4G>T rs2139941832
NM_000153.4(GALC):c.1674C>G (p.Thr558=) rs2139941792
NM_000153.4(GALC):c.1676del (p.Asn559fs)
NM_000153.4(GALC):c.1677T>C (p.Asn559=) rs1884855641
NM_000153.4(GALC):c.1685T>A (p.Ile562Lys)
NM_000153.4(GALC):c.1687_1688insTTTTATAA (p.Lys563delinsIleLeuTer)
NM_000153.4(GALC):c.1690T>G (p.Cys564Gly) rs1595190129
NM_000153.4(GALC):c.1698A>G (p.Val566=) rs421466
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer) rs1555378701
NM_000153.4(GALC):c.1713T>C (p.Pro571=)
NM_000153.4(GALC):c.1717dup (p.Thr573fs)
NM_000153.4(GALC):c.1718C>T (p.Thr573Ile) rs2139941538
NM_000153.4(GALC):c.1736C>A (p.Ala579Glu) rs1423625765
NM_000153.4(GALC):c.1736_1739del (p.Ala579fs) rs754668472
NM_000153.4(GALC):c.1743A>G (p.Arg581=)
NM_000153.4(GALC):c.1744G>A (p.Val582Ile)
NM_000153.4(GALC):c.1746A>G (p.Val582=) rs1884848090
NM_000153.4(GALC):c.1749T>C (p.Asn583=)
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)
NM_000153.4(GALC):c.1754G>A (p.Gly585Asp) rs776098499
NM_000153.4(GALC):c.1757G>A (p.Gly586Asp) rs2139941444
NM_000153.4(GALC):c.1758T>A (p.Gly586=) rs746189262
NM_000153.4(GALC):c.1758T>C (p.Gly586=) rs746189262
NM_000153.4(GALC):c.1759A>G (p.Ile587Val)
NM_000153.4(GALC):c.1762_1763del (p.Leu588fs) rs751283440
NM_000153.4(GALC):c.1763del (p.Ile587_Leu588insTer) rs751283440
NM_000153.4(GALC):c.1764G>A (p.Leu588=) rs2139941407
NM_000153.4(GALC):c.1772G>A (p.Ser591Asn)
NM_000153.4(GALC):c.1774G>A (p.Ala592Thr)
NM_000153.4(GALC):c.1774G>T (p.Ala592Ser) rs1360345372
NM_000153.4(GALC):c.1778G>C (p.Arg593Thr) rs1566969057
NM_000153.4(GALC):c.1781G>A (p.Gly594Glu) rs2139941367
NM_000153.4(GALC):c.1781G>T (p.Gly594Val) rs2139941367
NM_000153.4(GALC):c.1789_1800del (p.Phe597_Phe600del) rs2139941321
NM_000153.4(GALC):c.1793G>A (p.Trp598Ter) rs1884845930
NM_000153.4(GALC):c.1796T>G (p.Ile599Ser) rs387906953
NM_000153.4(GALC):c.1803A>T (p.Ala601=)
NM_000153.4(GALC):c.1806T>C (p.Asn602=) rs2139941287
NM_000153.4(GALC):c.1809A>G (p.Gly603=) rs1884845093
NM_000153.4(GALC):c.1815C>T (p.Tyr605=) rs2139941240
NM_000153.4(GALC):c.1815dup (p.Arg606fs) rs2139941246
NM_000153.4(GALC):c.1816A>T (p.Arg606Trp)
NM_000153.4(GALC):c.1821dup (p.Thr608fs) rs2139941220
NM_000153.4(GALC):c.1829A>C (p.Asp610Ala) rs754732860
NM_000153.4(GALC):c.1830T>C (p.Asp610=) rs2139941185
NM_000153.4(GALC):c.1834+13_1834+14insA
NM_000153.4(GALC):c.1834+17T>C
NM_000153.4(GALC):c.1834+18T>G
NM_000153.4(GALC):c.1834+1G>A
NM_000153.4(GALC):c.1834+7G>T
NM_000153.4(GALC):c.1834+8A>G
NM_000153.4(GALC):c.1834+9C>G
NM_000153.4(GALC):c.1835-14T>C
NM_000153.4(GALC):c.1835-15A>G
NM_000153.4(GALC):c.1835-17A>C
NM_000153.4(GALC):c.1835-18A>T
NM_000153.4(GALC):c.1835-1G>A rs1555378562
NM_000153.4(GALC):c.1835-20A>G
NM_000153.4(GALC):c.1835-4A>G
NM_000153.4(GALC):c.1835-9G>C rs1884768613
NM_000153.4(GALC):c.1837G>T (p.Gly613Ter) rs1057517033
NM_000153.4(GALC):c.1839A>T (p.Gly613=)
NM_000153.4(GALC):c.1845T>A (p.Ile615=) rs2139937985
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer) rs1057516433
NM_000153.4(GALC):c.1853del (p.Ala618fs) rs2139937977
NM_000153.4(GALC):c.1859G>C (p.Gly620Ala)
NM_000153.4(GALC):c.1872T>A (p.Val624=)
NM_000153.4(GALC):c.1872_1888del (p.Thr625fs) rs1884764754
NM_000153.4(GALC):c.1875A>G (p.Thr625=) rs752821190
NM_000153.4(GALC):c.1878_1894del (p.Lys627fs)
NM_000153.4(GALC):c.1882A>T (p.Lys628Ter)
NM_000153.4(GALC):c.1884A>G (p.Lys628=) rs760065776
NM_000153.4(GALC):c.1884del (p.Lys628fs) rs1336726861
NM_000153.4(GALC):c.1884dup (p.Trp629fs) rs1336726861
NM_000153.4(GALC):c.1886G>T (p.Trp629Leu) rs1566967736
NM_000153.4(GALC):c.1887del (p.Trp629fs) rs1884765073
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.4(GALC):c.1890T>C (p.Tyr630=) rs1057516453
NM_000153.4(GALC):c.1892C>T (p.Thr631Ile)
NM_000153.4(GALC):c.1896C>T (p.Leu632=)
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) rs749708827
NM_000153.4(GALC):c.1897dup (p.Thr633fs) rs1555378538
NM_000153.4(GALC):c.1898C>G (p.Thr633Arg) rs766762599
NM_000153.4(GALC):c.1899G>A (p.Thr633=) rs370259898
NM_000153.4(GALC):c.1899G>T (p.Thr633=) rs370259898
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer) rs1555378534
NM_000153.4(GALC):c.1902A>G (p.Leu634=)
NM_000153.4(GALC):c.1904C>A (p.Thr635Asn)
NM_000153.4(GALC):c.1911+10G>A rs2139937598
NM_000153.4(GALC):c.1911+11C>G
NM_000153.4(GALC):c.1911+14A>G
NM_000153.4(GALC):c.1911+1_1911+5del rs777955784
NM_000153.4(GALC):c.1911+20G>A
NM_000153.4(GALC):c.1911+20G>T
NM_000153.4(GALC):c.1911+4A>G
NM_000153.4(GALC):c.1911+9T>G rs2139937603
NM_000153.4(GALC):c.1912-10_1912-7dup rs2139926060
NM_000153.4(GALC):c.1912-17_1912-16del rs770352387
NM_000153.4(GALC):c.1912-19G>A
NM_000153.4(GALC):c.1912-1G>C rs1555377947
NM_000153.4(GALC):c.1912-4C>G rs1448244760
NM_000153.4(GALC):c.1912-6CT[3]
NM_000153.4(GALC):c.1914T>A (p.Gly638=)
NM_000153.4(GALC):c.1920_1921inv (p.Thr641Ala)
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter) rs1884501856
NM_000153.4(GALC):c.1944G>A (p.Lys648=)
NM_000153.4(GALC):c.1946C>G (p.Ser649Cys) rs1158521193
NM_000153.4(GALC):c.1952G>A (p.Trp651Ter)
NM_000153.4(GALC):c.196-10T>G
NM_000153.4(GALC):c.196-12T>C
NM_000153.4(GALC):c.196-12T>G
NM_000153.4(GALC):c.196-14A>G
NM_000153.4(GALC):c.196-16A>G
NM_000153.4(GALC):c.196-17A>G
NM_000153.4(GALC):c.196-19T>C
NM_000153.4(GALC):c.196-19del
NM_000153.4(GALC):c.196-20T>C
NM_000153.4(GALC):c.196-3del rs561184126
NM_000153.4(GALC):c.196-3dup rs561184126
NM_000153.4(GALC):c.196-4_196-3del rs561184126
NM_000153.4(GALC):c.196-7T>A rs1302684850
NM_000153.4(GALC):c.196-7T>G
NM_000153.4(GALC):c.196-9T>G
NM_000153.4(GALC):c.1964del (p.Pro655fs) rs2139925832
NM_000153.4(GALC):c.196G>A (p.Ala66Thr) rs1057518843
NM_000153.4(GALC):c.1978A>G (p.Lys660Glu)
NM_000153.4(GALC):c.1978A>T (p.Lys660Ter) rs762034337
NM_000153.4(GALC):c.1980G>C (p.Lys660Asn)
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) rs1060499761
NM_000153.4(GALC):c.1987del (p.Trp663fs) rs2139925729
NM_000153.4(GALC):c.198A>C (p.Ala66=) rs1375871159
NM_000153.4(GALC):c.1992T>C (p.Ala664=) rs763585644
NM_000153.4(GALC):c.199A>C (p.Thr67Pro) rs2139759522
NM_000153.4(GALC):c.19_20del (p.Ser7fs) rs1887303860
NM_000153.4(GALC):c.1A>G (p.Met1Val) rs1555384382
NM_000153.4(GALC):c.2002A>C (p.Thr668Pro) rs1884498480
NM_000153.4(GALC):c.2002A>G (p.Thr668Ala) rs1884498480
NM_000153.4(GALC):c.2003C>G (p.Thr668Ser)
NM_000153.4(GALC):c.2006A>G (p.His669Arg)
NM_000153.4(GALC):c.2006_2009del (p.His669fs)
NM_000153.4(GALC):c.2007C>T (p.His669=) rs1884498007
NM_000153.4(GALC):c.200C>A (p.Thr67Asn)
NM_000153.4(GALC):c.200C>T (p.Thr67Ile) rs1478697086
NM_000153.4(GALC):c.2010C>T (p.Ser670=) rs2139925606
NM_000153.4(GALC):c.2025G>T (p.Gln675His)
NM_000153.4(GALC):c.2028T>C (p.Phe676=)
NM_000153.4(GALC):c.2029del (p.Asp677fs) rs2139925574
NM_000153.4(GALC):c.2031C>T (p.Asp677=) rs2139925570
NM_000153.4(GALC):c.2033A>G (p.Asn678Ser)
NM_000153.4(GALC):c.2036_2040del (p.Phe679fs) rs2139925505
NM_000153.4(GALC):c.2037T>C (p.Phe679=)
NM_000153.4(GALC):c.2037_2040del (p.Phe679fs) rs754507781
NM_000153.4(GALC):c.2037dup (p.Leu680fs) rs2139925538
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000153.4(GALC):c.2040T>C (p.Leu680=) rs1884496164
NM_000153.4(GALC):c.2042T>C (p.Val681Ala)
NM_000153.4(GALC):c.2042T>G (p.Val681Gly)
NM_000153.4(GALC):c.2049C>A (p.Ala683=)
NM_000153.4(GALC):c.204C>T (p.Ser68=) rs2139759503
NM_000153.4(GALC):c.2050A>G (p.Thr684Ala)
NM_000153.4(GALC):c.2053C>A (p.Arg685Ser) rs756141815
NM_000153.4(GALC):c.2055C>T (p.Arg685=) rs982394931
NM_000153.4(GALC):c.2056T>C (p.Ter686Gln) rs1406731723
NM_000153.4(GALC):c.2057A>G (p.Ter686=)
NM_000153.4(GALC):c.2058A>C (p.Ter686Tyr)
NM_000153.4(GALC):c.2058A>G (p.Ter686=)
NM_000153.4(GALC):c.205C>G (p.Arg69Gly)
NM_000153.4(GALC):c.210dup (p.Leu71fs) rs1887064841
NM_000153.4(GALC):c.213A>G (p.Leu71=)
NM_000153.4(GALC):c.216A>G (p.Val72=) rs2139759473
NM_000153.4(GALC):c.21G>T (p.Ser7=)
NM_000153.4(GALC):c.222C>G (p.Tyr74Ter) rs959445153
NM_000153.4(GALC):c.222C>T (p.Tyr74=) rs959445153
NM_000153.4(GALC):c.228G>A (p.Glu76=)
NM_000153.4(GALC):c.231_232del (p.Tyr78fs)
NM_000153.4(GALC):c.234T>C (p.Tyr78=) rs2139759411
NM_000153.4(GALC):c.236G>A (p.Arg79His)
NM_000153.4(GALC):c.236G>C (p.Arg79Pro)
NM_000153.4(GALC):c.246A>G (p.Ile82Met)
NM_000153.4(GALC):c.24T>A (p.Ala8=)
NM_000153.4(GALC):c.250G>A (p.Asp84Asn) rs2139759348
NM_000153.4(GALC):c.254A>C (p.Tyr85Ser)
NM_000153.4(GALC):c.255T>A (p.Tyr85Ter)
NM_000153.4(GALC):c.258C>A (p.Leu86=) rs375382346
NM_000153.4(GALC):c.258C>T (p.Leu86=) rs375382346
NM_000153.4(GALC):c.25T>G (p.Ser9Ala)
NM_000153.4(GALC):c.264+14A>G
NM_000153.4(GALC):c.264+1G>A rs1458925593
NM_000153.4(GALC):c.264+2T>C
NM_000153.4(GALC):c.264+2T>G
NM_000153.4(GALC):c.264+3A>C rs1567014543
NM_000153.4(GALC):c.264+5T>A rs2139759293
NM_000153.4(GALC):c.264+7A>G
NM_000153.4(GALC):c.264+7A>T
NM_000153.4(GALC):c.265-10C>T
NM_000153.4(GALC):c.265-14A>G
NM_000153.4(GALC):c.265-19C>A
NM_000153.4(GALC):c.265-20A>G
NM_000153.4(GALC):c.265-3C>G
NM_000153.4(GALC):c.265-4A>G
NM_000153.4(GALC):c.267G>A (p.Pro89=) rs1258153050
NM_000153.4(GALC):c.270T>A (p.Asn90Lys)
NM_000153.4(GALC):c.27del (p.Trp10fs) rs2139769959
NM_000153.4(GALC):c.280T>C (p.Ser94Pro)
NM_000153.4(GALC):c.281del (p.Ser94fs) rs2139758786
NM_000153.4(GALC):c.283_284del (p.Leu95fs) rs2139758767
NM_000153.4(GALC):c.284dup (p.Leu95fs)
NM_000153.4(GALC):c.293del (p.Ile97_Leu98insTer)
NM_000153.4(GALC):c.293dup (p.Leu98fs) rs757799254
NM_000153.4(GALC):c.29G>A (p.Trp10Ter) rs2139769937
NM_000153.4(GALC):c.2T>C (p.Met1Thr) rs780972896
NM_000153.4(GALC):c.302_308dup (p.Gly104fs) rs2139758703
NM_000153.4(GALC):c.303A>G (p.Glu101=)
NM_000153.4(GALC):c.313G>A (p.Asp105Asn) rs1361755363
NM_000153.4(GALC):c.316G>A (p.Gly106Arg)
NM_000153.4(GALC):c.321G>A (p.Gln107=) rs2139758670
NM_000153.4(GALC):c.328+12T>C
NM_000153.4(GALC):c.328+19T>C
NM_000153.4(GALC):c.328+19T>G
NM_000153.4(GALC):c.328+1G>A rs779701490
NM_000153.4(GALC):c.328+3A>G rs377682096
NM_000153.4(GALC):c.329-10C>T
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.329-11C>T
NM_000153.4(GALC):c.329-12T>A
NM_000153.4(GALC):c.329-12_329-3del
NM_000153.4(GALC):c.329-1G>A rs1365632054
NM_000153.4(GALC):c.329-2A>G rs2139755114
NM_000153.4(GALC):c.329-4T>G rs1220993077
NM_000153.4(GALC):c.329-6A>C
NM_000153.4(GALC):c.329-6_329-5del
NM_000153.4(GALC):c.329-8C>G rs745493654
NM_000153.4(GALC):c.32A>G (p.Gln11Arg) rs2139769922
NM_000153.4(GALC):c.332del (p.Gly111fs) rs2139755093
NM_000153.4(GALC):c.339G>A (p.Glu113=)
NM_000153.4(GALC):c.349A>C (p.Met117Leu) rs145580093
NM_000153.4(GALC):c.349A>T (p.Met117Leu) rs145580093
NM_000153.4(GALC):c.356A>C (p.Tyr119Ser) rs2139754980
NM_000153.4(GALC):c.357T>C (p.Tyr119=) rs1567012468
NM_000153.4(GALC):c.360A>C (p.Ala120=)
NM_000153.4(GALC):c.360A>G (p.Ala120=) rs1172612470
NM_000153.4(GALC):c.361C>T (p.Leu121=)
NM_000153.4(GALC):c.366T>C (p.Asp122=) rs751595447
NM_000153.4(GALC):c.369G>T (p.Glu123Asp)
NM_000153.4(GALC):c.370A>G (p.Asn124Asp)
NM_000153.4(GALC):c.371_372insCATTGCAAACT (p.Tyr125fs)
NM_000153.4(GALC):c.379C>A (p.Arg127=) rs200532368
NM_000153.4(GALC):c.37C>G (p.Arg13Gly) rs1173602413
NM_000153.4(GALC):c.37C>T (p.Arg13Ter) rs1173602413
NM_000153.4(GALC):c.383G>C (p.Gly128Ala) rs367604629
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter) rs1240965365
NM_000153.4(GALC):c.388G>C (p.Glu130Gln)
NM_000153.4(GALC):c.389A>G (p.Glu130Gly)
NM_000153.4(GALC):c.392G>A (p.Trp131Ter)
NM_000153.4(GALC):c.395G>A (p.Trp132Ter)
NM_000153.4(GALC):c.396G>A (p.Trp132Ter) rs2139754775
NM_000153.4(GALC):c.398TGA[1] (p.Met134del) rs1886979623
NM_000153.4(GALC):c.3G>T (p.Met1Ile) rs758685128
NM_000153.4(GALC):c.403A>T (p.Lys135Ter)
NM_000153.4(GALC):c.408A>G (p.Glu136=)
NM_000153.4(GALC):c.408del (p.Ala137fs)
NM_000153.4(GALC):c.411T>A (p.Ala137=)
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.414G>A (p.Lys138=) rs977080847
NM_000153.4(GALC):c.415A>T (p.Lys139Ter) rs1057516673
NM_000153.4(GALC):c.417G>A (p.Lys139=)
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.426C>A (p.Pro142=) rs754765375
NM_000153.4(GALC):c.42G>A (p.Ala14=)
NM_000153.4(GALC):c.432_433dup (p.Thr145fs) rs2139754606
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.435A>G (p.Thr145=) rs2139754577
NM_000153.4(GALC):c.438C>A (p.Leu146=)
NM_000153.4(GALC):c.438C>T (p.Leu146=) rs751654966
NM_000153.4(GALC):c.442+12A>G
NM_000153.4(GALC):c.442+16T>G rs2139754464
NM_000153.4(GALC):c.442+17G>A
NM_000153.4(GALC):c.442+17G>T
NM_000153.4(GALC):c.442+19_442+20insAAGAAATGAAGTTTGCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_000153.4(GALC):c.442+1G>A rs1886976159
NM_000153.4(GALC):c.442+20A>G
NM_000153.4(GALC):c.442+2T>G rs1057516632
NM_000153.4(GALC):c.442+4A>G rs753169234
NM_000153.4(GALC):c.442+7A>G
NM_000153.4(GALC):c.442+8A>T
NM_000153.4(GALC):c.443-13C>A
NM_000153.4(GALC):c.443-13C>G
NM_000153.4(GALC):c.443-15C>T
NM_000153.4(GALC):c.443-1G>C rs1886890531
NM_000153.4(GALC):c.443-2A>G rs1595236714
NM_000153.4(GALC):c.443-6C>G rs1886890773
NM_000153.4(GALC):c.443-8C>G rs1886890897
NM_000153.4(GALC):c.447G>A (p.Leu149=)
NM_000153.4(GALC):c.44A>G (p.Lys15Arg)
NM_000153.4(GALC):c.453G>A (p.Trp151Ter) rs745620101
NM_000153.4(GALC):c.454T>C (p.Ser152Pro)
NM_000153.4(GALC):c.456A>C (p.Ser152=)
NM_000153.4(GALC):c.456A>G (p.Ser152=) rs537270750
NM_000153.4(GALC):c.45A>G (p.Lys15=) rs2139769850
NM_000153.4(GALC):c.467_468dup (p.Leu157fs) rs1057517185
NM_000153.4(GALC):c.474A>G (p.Gly158=)
NM_000153.4(GALC):c.477A>G (p.Lys159=)
NM_000153.4(GALC):c.484G>A (p.Asp162Asn)
NM_000153.4(GALC):c.488G>A (p.Trp163Ter)
NM_000153.4(GALC):c.495T>C (p.Tyr165=) rs1171860585
NM_000153.4(GALC):c.498del (p.Asn167fs) rs1886886241
NM_000153.4(GALC):c.49_50del (p.Met17fs) rs1555384360
NM_000153.4(GALC):c.501T>C (p.Asn167=)
NM_000153.4(GALC):c.505C>T (p.Gln169Ter) rs2139749699
NM_000153.4(GALC):c.508C>T (p.Leu170=)
NM_000153.4(GALC):c.509T>C (p.Leu170Pro)
NM_000153.4(GALC):c.50T>A (p.Met17Lys)
NM_000153.4(GALC):c.514G>A (p.Ala172Thr)
NM_000153.4(GALC):c.516C>A (p.Ala172=) rs1248283732
NM_000153.4(GALC):c.516C>T (p.Ala172=) rs1248283732
NM_000153.4(GALC):c.516_517del (p.Tyr173fs)
NM_000153.4(GALC):c.518A>G (p.Tyr173Cys) rs1388075066
NM_000153.4(GALC):c.521del (p.Tyr174fs) rs1555383517
NM_000153.4(GALC):c.522T>C (p.Tyr174=)
NM_000153.4(GALC):c.528G>A (p.Val176=) rs2139749565
NM_000153.4(GALC):c.531C>A (p.Thr177=)
NM_000153.4(GALC):c.531C>G (p.Thr177=)
NM_000153.4(GALC):c.533G>A (p.Trp178Ter) rs968905231
NM_000153.4(GALC):c.541G>A (p.Gly181Ser)
NM_000153.4(GALC):c.542del (p.Gly181fs)
NM_000153.4(GALC):c.546C>T (p.Ala182=) rs1204124331
NM_000153.4(GALC):c.54T>G (p.Thr18=)
NM_000153.4(GALC):c.552T>A (p.Arg184=) rs1886881987
NM_000153.4(GALC):c.555_575del (p.His186_Tyr192del) rs1555383500
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000153.4(GALC):c.561T>C (p.Asp187=)
NM_000153.4(GALC):c.578T>C (p.Ile193Thr) rs1555383498
NM_000153.4(GALC):c.57G>C (p.Ala19=) rs1015595560
NM_000153.4(GALC):c.581G>C (p.Gly194Ala) rs963756824
NM_000153.4(GALC):c.582+10A>G rs751190201
NM_000153.4(GALC):c.582+11T>C
NM_000153.4(GALC):c.582+13T>C
NM_000153.4(GALC):c.582+18A>T
NM_000153.4(GALC):c.582+1G>C
NM_000153.4(GALC):c.582+2T>C
NM_000153.4(GALC):c.582+7A>G rs2139749320
NM_000153.4(GALC):c.583-108G>T rs17797993
NM_000153.4(GALC):c.583-10T>G rs2139743870
NM_000153.4(GALC):c.583-11T>C rs886050865
NM_000153.4(GALC):c.583-11_583-10del
NM_000153.4(GALC):c.583-12T>C
NM_000153.4(GALC):c.583-13T>G
NM_000153.4(GALC):c.583-14T>A
NM_000153.4(GALC):c.583-1G>C rs1555383310
NM_000153.4(GALC):c.583-20T>G
NM_000153.4(GALC):c.583-2A>G
NM_000153.4(GALC):c.583-4G>C
NM_000153.4(GALC):c.583-6T>G
NM_000153.4(GALC):c.583-8T>C rs1037117075
NM_000153.4(GALC):c.583-9del
NM_000153.4(GALC):c.583A>G (p.Ile195Val) rs1555383309
NM_000153.4(GALC):c.591T>C (p.Asn197=)
NM_000153.4(GALC):c.591dup (p.Glu198Ter) rs1555383308
NM_000153.4(GALC):c.593A>C (p.Glu198Ala)
NM_000153.4(GALC):c.597G>T (p.Arg199Ser) rs1886780825
NM_000153.4(GALC):c.598T>C (p.Ser200Pro)
NM_000153.4(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.4(GALC):c.603T>C (p.Tyr201=) rs879731155
NM_000153.4(GALC):c.609C>G (p.Ala203=) rs2139743751
NM_000153.4(GALC):c.61_63delinsCCA (p.Ala21Pro)
NM_000153.4(GALC):c.620del (p.Lys207fs)
NM_000153.4(GALC):c.621+10A>G
NM_000153.4(GALC):c.621+14T>C
NM_000153.4(GALC):c.621+15A>G
NM_000153.4(GALC):c.621+15_621+23del
NM_000153.4(GALC):c.621+16G>A
NM_000153.4(GALC):c.621+18A>G
NM_000153.4(GALC):c.621+20C>G
NM_000153.4(GALC):c.621+20C>T
NM_000153.4(GALC):c.621+5G>A rs1555383306
NM_000153.4(GALC):c.621+8C>G rs2139743655
NM_000153.4(GALC):c.621+9A>C
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.622-10A>C rs2140016510
NM_000153.4(GALC):c.622-11T>C
NM_000153.4(GALC):c.622-19C>G
NM_000153.4(GALC):c.622-7C>A
NM_000153.4(GALC):c.622-8T>C
NM_000153.4(GALC):c.625T>C (p.Leu209=)
NM_000153.4(GALC):c.627A>G (p.Leu209=) rs1319559158
NM_000153.4(GALC):c.630A>G (p.Arg210=)
NM_000153.4(GALC):c.635T>C (p.Met212Thr)
NM_000153.4(GALC):c.639G>A (p.Leu213=)
NM_000153.4(GALC):c.63G>A (p.Ala21=)
NM_000153.4(GALC):c.63G>T (p.Ala21=) rs756641128
NM_000153.4(GALC):c.645del (p.Gln216fs)
NM_000153.4(GALC):c.646_647del (p.Gln216fs)
NM_000153.4(GALC):c.64G>C (p.Gly22Arg) rs768031195
NM_000153.4(GALC):c.654C>T (p.Leu218=) rs2140016397
NM_000153.4(GALC):c.655C>T (p.Gln219Ter)
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.65G>A (p.Gly22Asp) rs372285275
NM_000153.4(GALC):c.65G>C (p.Gly22Ala) rs372285275
NM_000153.4(GALC):c.65_74del (p.Gly22fs) rs1595246385
NM_000153.4(GALC):c.674dup (p.Ser226fs) rs1886496591
NM_000153.4(GALC):c.675A>G (p.Ala225=) rs1172670344
NM_000153.4(GALC):c.677del (p.Ser226fs)
NM_000153.4(GALC):c.678T>C (p.Ser226=) rs1595226323
NM_000153.4(GALC):c.679G>C (p.Asp227His)
NM_000153.4(GALC):c.680A>G (p.Asp227Gly) rs1886495923
NM_000153.4(GALC):c.682A>G (p.Asn228Asp) rs2140016299
NM_000153.4(GALC):c.683_694delinsCTC (p.Asn228_Ser232delinsThrPro) rs2140016243
NM_000153.4(GALC):c.688_694del (p.Trp230fs) rs780376041
NM_000153.4(GALC):c.68C>T (p.Ser23Leu)
NM_000153.4(GALC):c.691G>A (p.Glu231Lys) rs542231350
NM_000153.4(GALC):c.691del (p.Glu231fs)
NM_000153.4(GALC):c.693G>C (p.Glu231Asp)
NM_000153.4(GALC):c.693G>T (p.Glu231Asp)
NM_000153.4(GALC):c.695C>G (p.Ser232Cys)
NM_000153.4(GALC):c.696C>T (p.Ser232=)
NM_000153.4(GALC):c.69G>A (p.Ser23=)
NM_000153.4(GALC):c.69G>C (p.Ser23=) rs763851570
NM_000153.4(GALC):c.69G>T (p.Ser23=) rs763851570
NM_000153.4(GALC):c.705A>T (p.Ala235=) rs771534115
NM_000153.4(GALC):c.709A>G (p.Met237Val)
NM_000153.4(GALC):c.714C>G (p.Leu238=)
NM_000153.4(GALC):c.719A>G (p.Asp240Gly)
NM_000153.4(GALC):c.71C>G (p.Ala24Gly)
NM_000153.4(GALC):c.724G>A (p.Glu242Lys)
NM_000153.4(GALC):c.72G>C (p.Ala24=) rs1184434539
NM_000153.4(GALC):c.739G>T (p.Val247Phe) rs2140016089
NM_000153.4(GALC):c.744T>C (p.Asp248=)
NM_000153.4(GALC):c.750A>G (p.Ile250Met) rs2140016054
NM_000153.4(GALC):c.752+10G>A rs2140016029
NM_000153.4(GALC):c.752+1G>A rs2140016050
NM_000153.4(GALC):c.752+8A>C rs750292340
NM_000153.4(GALC):c.752+8A>G rs750292340
NM_000153.4(GALC):c.753-12T>G
NM_000153.4(GALC):c.753-13T>C
NM_000153.4(GALC):c.753-13T>G
NM_000153.4(GALC):c.753-13_753-12dup rs533067313
NM_000153.4(GALC):c.753-14C>T
NM_000153.4(GALC):c.753-17A>C
NM_000153.4(GALC):c.753-4dup
NM_000153.4(GALC):c.753-5T>G
NM_000153.4(GALC):c.753-5del rs533067313
NM_000153.4(GALC):c.753-5dup rs533067313
NM_000153.4(GALC):c.753-6T>C
NM_000153.4(GALC):c.753-7T>A
NM_000153.4(GALC):c.753-7T>G rs2140001828
NM_000153.4(GALC):c.753-9T>C rs2140001838
NM_000153.4(GALC):c.754G>C (p.Ala252Pro) rs866358110
NM_000153.4(GALC):c.757C>T (p.His253Tyr)
NM_000153.4(GALC):c.758A>G (p.His253Arg)
NM_000153.4(GALC):c.75C>T (p.Gly25=) rs111976362
NM_000153.4(GALC):c.764C>A (p.Pro255His) rs1886148366
NM_000153.4(GALC):c.773A>C (p.His258Pro)
NM_000153.4(GALC):c.77G>A (p.Arg26His)
NM_000153.4(GALC):c.782_783dup (p.Asp262fs) rs2140001750
NM_000153.4(GALC):c.786T>C (p.Asp262=)
NM_000153.4(GALC):c.789A>C (p.Ala263=)
NM_000153.4(GALC):c.789A>G (p.Ala263=) rs1886147283
NM_000153.4(GALC):c.792G>A (p.Lys264=)
NM_000153.4(GALC):c.79G>T (p.Ala27Ser)
NM_000153.4(GALC):c.7dup (p.Glu3fs) rs1555384381
NM_000153.4(GALC):c.801G>A (p.Gly267=)
NM_000153.4(GALC):c.801G>C (p.Gly267=)
NM_000153.4(GALC):c.80_84dup (p.Val29fs)
NM_000153.4(GALC):c.815C>T (p.Ser272Phe)
NM_000153.4(GALC):c.81C>G (p.Ala27=) rs759433028
NM_000153.4(GALC):c.821A>C (p.Glu274Ala) rs2140001660
NM_000153.4(GALC):c.822A>C (p.Glu274Asp)
NM_000153.4(GALC):c.824A>G (p.Asp275Gly)
NM_000153.4(GALC):c.827_828del (p.Asp275_Phe276insTer) rs1555381958
NM_000153.4(GALC):c.82G>T (p.Ala28Ser)
NM_000153.4(GALC):c.830G>A (p.Ser277Asn) rs1886145312
NM_000153.4(GALC):c.832A>G (p.Thr278Ala) rs886042645
NM_000153.4(GALC):c.83C>T (p.Ala28Val)
NM_000153.4(GALC):c.840T>C (p.Asn280=)
NM_000153.4(GALC):c.846C>T (p.Asp282=)
NM_000153.4(GALC):c.848T>C (p.Met283Thr)
NM_000153.4(GALC):c.851G>A (p.Gly284Asp)
NM_000153.4(GALC):c.851del (p.Gly284fs)
NM_000153.4(GALC):c.855A>G (p.Ala285=)
NM_000153.4(GALC):c.856G>C (p.Gly286Arg)
NM_000153.4(GALC):c.85G>A (p.Val29Met)
NM_000153.4(GALC):c.860G>A (p.Cys287Tyr) rs769433488
NM_000153.4(GALC):c.866dup (p.Arg290fs) rs2140001505
NM_000153.4(GALC):c.868C>A (p.Arg290Ser)
NM_000153.4(GALC):c.870C>A (p.Arg290=)
NM_000153.4(GALC):c.870C>T (p.Arg290=)
NM_000153.4(GALC):c.87G>T (p.Val29=)
NM_000153.4(GALC):c.884A>C (p.Asn295Thr) rs746922378
NM_000153.4(GALC):c.884A>T (p.Asn295Ile) rs746922378
NM_000153.4(GALC):c.894T>C (p.Asn298=)
NM_000153.4(GALC):c.896G>A (p.Gly299Asp) rs1566993126
NM_000153.4(GALC):c.896_897delinsAG (p.Gly299Glu) rs2140001432
NM_000153.4(GALC):c.8A>G (p.Glu3Gly)
NM_000153.4(GALC):c.8A>T (p.Glu3Val) rs2139770080
NM_000153.4(GALC):c.900T>C (p.Tyr300=) rs2140001415
NM_000153.4(GALC):c.905C>T (p.Thr302Ile)
NM_000153.4(GALC):c.908+10T>G
NM_000153.4(GALC):c.908+11A>G
NM_000153.4(GALC):c.908+11A>T
NM_000153.4(GALC):c.908+12A>G
NM_000153.4(GALC):c.908+17C>G
NM_000153.4(GALC):c.908+17C>T
NM_000153.4(GALC):c.908+1G>T rs750524447
NM_000153.4(GALC):c.908+20T>C
NM_000153.4(GALC):c.909-10A>T rs398123178
NM_000153.4(GALC):c.909-12C>G
NM_000153.4(GALC):c.909-19T>C
NM_000153.4(GALC):c.909-20T>A
NM_000153.4(GALC):c.909-3del rs1212915595
NM_000153.4(GALC):c.909-6T>C
NM_000153.4(GALC):c.909-7C>A
NM_000153.4(GALC):c.909-9A>C rs2139996587
NM_000153.4(GALC):c.90C>G (p.Pro30=) rs2139769557
NM_000153.4(GALC):c.90C>T (p.Pro30=)
NM_000153.4(GALC):c.911C>T (p.Thr304Ile)
NM_000153.4(GALC):c.918A>G (p.Ala306=)
NM_000153.4(GALC):c.918A>T (p.Ala306=) rs2139996507
NM_000153.4(GALC):c.92T>C (p.Leu31Ser)
NM_000153.4(GALC):c.933T>C (p.Ala311=) rs1291467359
NM_000153.4(GALC):c.938A>G (p.Tyr313Cys)
NM_000153.4(GALC):c.940T>C (p.Tyr314His) rs2139996434
NM_000153.4(GALC):c.940_1005del (p.Tyr314_Tyr335del)
NM_000153.4(GALC):c.941A>G (p.Tyr314Cys) rs1595215209
NM_000153.4(GALC):c.942T>C (p.Tyr314=)
NM_000153.4(GALC):c.945A>G (p.Glu315=) rs2139996403
NM_000153.4(GALC):c.946C>T (p.Gln316Ter) rs776368825
NM_000153.4(GALC):c.947_950dup (p.Pro318fs) rs2139996377
NM_000153.4(GALC):c.94C>T (p.Leu32=) rs770807058
NM_000153.4(GALC):c.951G>A (p.Leu317=) rs2139996371
NM_000153.4(GALC):c.952C>G (p.Pro318Ala) rs1057516642
NM_000153.4(GALC):c.953C>G (p.Pro318Arg) rs387906954
NM_000153.4(GALC):c.953C>T (p.Pro318Leu)
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.957T>A (p.Tyr319Ter)
NM_000153.4(GALC):c.966C>T (p.Cys322=)
NM_000153.4(GALC):c.967G>A (p.Gly323Arg) rs1472207768
NM_000153.4(GALC):c.967G>T (p.Gly323Trp) rs1472207768
NM_000153.4(GALC):c.969G>T (p.Gly323=)
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer) rs1057516808
NM_000153.4(GALC):c.973A>G (p.Met325Val) rs772190761
NM_000153.4(GALC):c.977C>T (p.Thr326Met)
NM_000153.4(GALC):c.978G>C (p.Thr326=)
NM_000153.4(GALC):c.97C>T (p.Leu33=) rs2139769518
NM_000153.4(GALC):c.987G>A (p.Glu329=) rs2139996201
NM_000153.4(GALC):c.992_993insCT (p.Trp331fs)
NM_000153.4(GALC):c.99G>C (p.Leu33=) rs1595246257
NM_000153.4(GALC):c.9del (p.Glu3fs) rs1555384380
NM_001201402.2(GALC):c.62T>C (p.Ile21Thr)

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