ClinVar Miner

List of variants in gene GAN studied for Giant axonal neuropathy 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 397
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HGVS dbSNP
NC_000016.10:g.(?_81315104)_(81377606_?)del
NC_000016.9:g.(81367334_81379355)_(81401689_81410823)del
NM_022041.3(GAN):c.*1002T>A rs552489170
NM_022041.3(GAN):c.*1068T>G rs57170812
NM_022041.3(GAN):c.*1175C>A rs142989603
NM_022041.3(GAN):c.*1250T>G rs61096092
NM_022041.3(GAN):c.*1268C>T rs182391687
NM_022041.3(GAN):c.*1273G>C rs75176423
NM_022041.3(GAN):c.*1336G>A rs150666164
NM_022041.3(GAN):c.*1368T>C rs568868279
NM_022041.3(GAN):c.*1388A>G rs41484544
NM_022041.3(GAN):c.*1454_*1455dup rs3214897
NM_022041.3(GAN):c.*1455del rs3214897
NM_022041.3(GAN):c.*1455dup rs3214897
NM_022041.3(GAN):c.*1585T>C rs886052344
NM_022041.3(GAN):c.*159C>T rs76000455
NM_022041.3(GAN):c.*1658T>G rs16955221
NM_022041.3(GAN):c.*1659del rs546229255
NM_022041.3(GAN):c.*1747A>G rs886052346
NM_022041.3(GAN):c.*1817G>C rs73602873
NM_022041.3(GAN):c.*1839G>A rs375907932
NM_022041.3(GAN):c.*1883C>G rs76019247
NM_022041.3(GAN):c.*1908A>C rs11861082
NM_022041.3(GAN):c.*1943T>C rs751490334
NM_022041.3(GAN):c.*2019A>G rs886052347
NM_022041.3(GAN):c.*2027T>A rs886052348
NM_022041.3(GAN):c.*214C>T rs886052338
NM_022041.3(GAN):c.*2188T>C rs2290949
NM_022041.3(GAN):c.*2280G>C rs886052349
NM_022041.3(GAN):c.*2321_*2322insG rs202192140
NM_022041.3(GAN):c.*2322T>G rs11862952
NM_022041.3(GAN):c.*2332del rs533512036
NM_022041.3(GAN):c.*2332dup rs533512036
NM_022041.3(GAN):c.*2350T>A rs369040399
NM_022041.3(GAN):c.*235T>C rs16955203
NM_022041.3(GAN):c.*2457T>C rs886052352
NM_022041.3(GAN):c.*247G>A rs2216769
NM_022041.3(GAN):c.*2485A>G rs886052353
NM_022041.3(GAN):c.*2492T>A rs886052354
NM_022041.3(GAN):c.*2498T>G rs2290948
NM_022041.3(GAN):c.*2584A>G rs117621048
NM_022041.3(GAN):c.*291A>G rs541752526
NM_022041.3(GAN):c.*294A>G rs16955210
NM_022041.3(GAN):c.*32C>A rs200964845
NM_022041.3(GAN):c.*360G>T rs886052339
NM_022041.3(GAN):c.*372G>A rs79192026
NM_022041.3(GAN):c.*381G>A rs886052340
NM_022041.3(GAN):c.*45T>C rs886052337
NM_022041.3(GAN):c.*472C>G rs1816122
NM_022041.3(GAN):c.*495G>A rs558701236
NM_022041.3(GAN):c.*544C>G rs141552591
NM_022041.3(GAN):c.*551C>T rs886052341
NM_022041.3(GAN):c.*592T>A rs1345895
NM_022041.3(GAN):c.*764G>A rs1934
NM_022041.3(GAN):c.*810C>A rs886052342
NM_022041.3(GAN):c.*816T>C rs188599282
NM_022041.3(GAN):c.*81T>C rs78835723
NM_022041.3(GAN):c.*964C>G rs535218815
NM_022041.3(GAN):c.*967G>A rs12920236
NM_022041.3(GAN):c.-111G>A rs12929567
NM_022041.3(GAN):c.-126T>C rs886052330
NM_022041.3(GAN):c.-127C>T rs886052329
NM_022041.3(GAN):c.-70C>T rs558816909
NM_022041.3(GAN):c.-74G>C rs886052331
NM_022041.3(GAN):c.-75G>C rs117642837
NM_022041.3(GAN):c.1012A>T (p.Lys338Ter) rs1181977802
NM_022041.3(GAN):c.1015C>G (p.Gln339Glu) rs759342719
NM_022041.3(GAN):c.1016A>G (p.Gln339Arg) rs1462816857
NM_022041.3(GAN):c.1017G>A (p.Gln339=) rs201451382
NM_022041.3(GAN):c.1022T>C (p.Leu341Pro) rs1555511769
NM_022041.3(GAN):c.1045C>G (p.Pro349Ala) rs374004725
NM_022041.3(GAN):c.1065A>C (p.Thr355=) rs370426264
NM_022041.3(GAN):c.1084G>A (p.Glu362Lys) rs587779384
NM_022041.3(GAN):c.1086+8A>C rs766772301
NM_022041.3(GAN):c.1086+9C>G rs762904814
NM_022041.3(GAN):c.1101C>T (p.Phe367=) rs142479585
NM_022041.3(GAN):c.1102G>A (p.Gly368Arg) rs758756818
NM_022041.3(GAN):c.112G>A (p.Gly38Arg) rs1252273429
NM_022041.3(GAN):c.1139G>T (p.Gly380Val) rs1427637335
NM_022041.3(GAN):c.1148A>T (p.Asp383Val) rs768562044
NM_022041.3(GAN):c.1157del (p.Lys386fs) rs1555511861
NM_022041.3(GAN):c.1162C>T (p.Leu388=) rs73589395
NM_022041.3(GAN):c.1165A>T (p.Ile389Phe) rs1471052510
NM_022041.3(GAN):c.1171A>G (p.Met391Val) rs367600164
NM_022041.3(GAN):c.1179T>A (p.Cys393Ter) rs1597406427
NM_022041.3(GAN):c.1182C>T (p.Tyr394=) rs150102659
NM_022041.3(GAN):c.1183G>C (p.Asp395His) rs142456623
NM_022041.3(GAN):c.1195A>G (p.Lys399Glu) rs368231984
NM_022041.3(GAN):c.1199C>G (p.Thr400Ser) rs368571975
NM_022041.3(GAN):c.1203G>A (p.Trp401Ter) rs1349484624
NM_022041.3(GAN):c.1210C>G (p.Gln404Glu) rs1190709905
NM_022041.3(GAN):c.1237-1G>A rs1597407007
NM_022041.3(GAN):c.1239C>T (p.Ile413=) rs61740238
NM_022041.3(GAN):c.1241G>A (p.Gly414Asp) rs761827117
NM_022041.3(GAN):c.1252G>C (p.Ala418Pro) rs752800283
NM_022041.3(GAN):c.1268T>C (p.Ile423Thr) rs119485091
NM_022041.3(GAN):c.1287C>G (p.Gly429=) rs563049431
NM_022041.3(GAN):c.1287C>T (p.Gly429=) rs563049431
NM_022041.3(GAN):c.1293C>T (p.Tyr431=) rs2608555
NM_022041.3(GAN):c.130C>T (p.Gln44Ter) rs1597385694
NM_022041.3(GAN):c.1323T>C (p.Tyr441=) rs368072478
NM_022041.3(GAN):c.1327C>A (p.Pro443Thr) rs150043237
NM_022041.3(GAN):c.1327C>G (p.Pro443Ala) rs150043237
NM_022041.3(GAN):c.132G>A (p.Gln44=) rs774609110
NM_022041.3(GAN):c.1343G>T (p.Trp448Leu) rs1597407111
NM_022041.3(GAN):c.1373+1G>A rs1597407138
NM_022041.3(GAN):c.1373+5G>A rs370881573
NM_022041.3(GAN):c.1381G>A (p.Ala461Thr) rs766155831
NM_022041.3(GAN):c.1381_1382delinsTT (p.Ala461Leu) rs1597407293
NM_022041.3(GAN):c.1382C>A (p.Ala461Glu) rs753748994
NM_022041.3(GAN):c.1383G>A (p.Ala461=) rs147725941
NM_022041.3(GAN):c.1391G>A (p.Cys464Tyr) rs777535272
NM_022041.3(GAN):c.1420G>C (p.Gly474Arg) rs1435035575
NM_022041.3(GAN):c.1429C>T (p.Arg477Ter) rs119485094
NM_022041.3(GAN):c.1430G>A (p.Arg477Gln) rs748209210
NM_022041.3(GAN):c.1444G>A (p.Ala482Thr) rs369693274
NM_022041.3(GAN):c.1445C>T (p.Ala482Val) rs146576740
NM_022041.3(GAN):c.1447C>T (p.Gln483Ter) rs119485089
NM_022041.3(GAN):c.1456G>A (p.Glu486Lys) rs119485088
NM_022041.3(GAN):c.145G>A (p.Ala49Thr) rs1597385703
NM_022041.3(GAN):c.146C>A (p.Ala49Glu) rs1597385706
NM_022041.3(GAN):c.1474T>G (p.Ser492Ala) rs1597407371
NM_022041.3(GAN):c.1476C>T (p.Ser492=) rs756866064
NM_022041.3(GAN):c.1477G>A (p.Glu493Lys) rs780427229
NM_022041.3(GAN):c.1494G>C (p.Glu498Asp) rs755423556
NM_022041.3(GAN):c.1502+1G>T rs1555511978
NM_022041.3(GAN):c.1502+4A>G rs748724208
NM_022041.3(GAN):c.1503-7T>C rs1387006177
NM_022041.3(GAN):c.1505G>A (p.Trp502Ter) rs1597414001
NM_022041.3(GAN):c.1506G>T (p.Trp502Cys) rs1324877107
NM_022041.3(GAN):c.1511A>G (p.Tyr504Cys) rs147864771
NM_022041.3(GAN):c.1518C>T (p.Asn506=) rs886052333
NM_022041.3(GAN):c.151G>C (p.Ala51Pro) rs750258209
NM_022041.3(GAN):c.1549T>C (p.Ser517Pro) rs1567501233
NM_022041.3(GAN):c.154A>G (p.Ser52Gly) rs1597385719
NM_022041.3(GAN):c.1553_1554del (p.Phe518fs) rs1597414034
NM_022041.3(GAN):c.156C>T (p.Ser52=) rs377611091
NM_022041.3(GAN):c.158C>T (p.Pro53Leu) rs1597385722
NM_022041.3(GAN):c.1590T>C (p.Tyr530=) rs1474222234
NM_022041.3(GAN):c.1593T>A (p.Val531=) rs141592516
NM_022041.3(GAN):c.1593T>G (p.Val531=) rs141592516
NM_022041.3(GAN):c.1596T>C (p.Ile532=) rs371157573
NM_022041.3(GAN):c.159G>T (p.Pro53=) rs753351243
NM_022041.3(GAN):c.1612+12A>G rs150344737
NM_022041.3(GAN):c.1628A>G (p.Tyr543Cys) rs879253958
NM_022041.3(GAN):c.1629C>T (p.Tyr543=) rs772065469
NM_022041.3(GAN):c.1630G>A (p.Val544Met) rs200071978
NM_022041.3(GAN):c.1633C>T (p.Arg545Cys) rs112201678
NM_022041.3(GAN):c.1634G>A (p.Arg545His) rs746486469
NM_022041.3(GAN):c.1634G>T (p.Arg545Leu) rs746486469
NM_022041.3(GAN):c.1665C>G (p.His555Gln) rs886052334
NM_022041.3(GAN):c.168-1G>A rs1597399963
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022041.3(GAN):c.1686A>C (p.Pro562=) rs1306397594
NM_022041.3(GAN):c.1689C>T (p.Ser563=) rs375075356
NM_022041.3(GAN):c.1699C>A (p.Arg567Ser) rs886052335
NM_022041.3(GAN):c.1709G>A (p.Cys570Tyr) rs1597414244
NM_022041.3(GAN):c.1716C>G (p.Ala572=) rs1434797669
NM_022041.3(GAN):c.1720C>T (p.Arg574Cys) rs1567501486
NM_022041.3(GAN):c.1728G>C (p.Ala576=) rs150342446
NM_022041.3(GAN):c.173A>G (p.Lys58Arg) rs1265285256
NM_022041.3(GAN):c.1744C>T (p.Arg582Cys) rs772385806
NM_022041.3(GAN):c.1772G>A (p.Arg591His) rs777556243
NM_022041.3(GAN):c.1777C>T (p.Arg593Cys) rs886052336
NM_022041.3(GAN):c.1783C>T (p.His595Tyr) rs757216350
NM_022041.3(GAN):c.17C>T (p.Ala6Val) rs773384073
NM_022041.3(GAN):c.18_19insA (p.Val7fs) rs1597385624
NM_022041.3(GAN):c.20_57del (p.Val7fs) rs1316993088
NM_022041.3(GAN):c.213T>A (p.Tyr71Ter) rs750735081
NM_022041.3(GAN):c.216G>A (p.Lys72=) rs780435880
NM_022041.3(GAN):c.218T>C (p.Ile73Thr) rs377294873
NM_022041.3(GAN):c.224T>A (p.Leu75His) rs1597399997
NM_022041.3(GAN):c.236C>T (p.Ser79Leu) rs1310137430
NM_022041.3(GAN):c.237G>A (p.Ser79=) rs144007114
NM_022041.3(GAN):c.23C>G (p.Ser8Cys) rs587781251
NM_022041.3(GAN):c.244G>C (p.Val82Leu) rs371054532
NM_022041.3(GAN):c.244G>T (p.Val82Phe) rs371054532
NM_022041.3(GAN):c.255G>A (p.Glu85=) rs911350150
NM_022041.3(GAN):c.256A>T (p.Ile86Phe) rs1597400020
NM_022041.3(GAN):c.266A>G (p.Tyr89Cys) rs1597400024
NM_022041.3(GAN):c.282+3A>C rs1597400032
NM_022041.3(GAN):c.283-10A>G rs759028377
NM_022041.3(GAN):c.283-14T>C rs369700456
NM_022041.3(GAN):c.29C>G (p.Pro10Arg) rs1597385631
NM_022041.3(GAN):c.311A>G (p.Asp104Gly) rs773783945
NM_022041.3(GAN):c.314T>C (p.Val105Ala) rs761334418
NM_022041.3(GAN):c.330C>T (p.Asp110=) rs200045368
NM_022041.3(GAN):c.343_360del (p.Thr115_Leu120del) rs1597401516
NM_022041.3(GAN):c.345G>A (p.Thr115=) rs768322742
NM_022041.3(GAN):c.355A>T (p.Thr119Ser) rs141396595
NM_022041.3(GAN):c.358C>T (p.Leu120=) rs113655220
NM_022041.3(GAN):c.371T>G (p.Phe124Cys) rs1597401545
NM_022041.3(GAN):c.374T>C (p.Leu125Ser) rs1555511093
NM_022041.3(GAN):c.403A>G (p.Ile135Val) rs748121633
NM_022041.3(GAN):c.413G>A (p.Arg138His) rs119485092
NM_022041.3(GAN):c.43C>A (p.Arg15Ser) rs119485093
NM_022041.3(GAN):c.444C>T (p.His148=) rs764605890
NM_022041.3(GAN):c.445G>A (p.Val149Ile) rs369703737
NM_022041.3(GAN):c.46C>T (p.Leu16=) rs77470936
NM_022041.3(GAN):c.479A>G (p.His160Arg) rs373474009
NM_022041.3(GAN):c.484C>T (p.Arg162Ter) rs1300267158
NM_022041.3(GAN):c.492C>T (p.Val164=) rs553692036
NM_022041.3(GAN):c.4G>A (p.Ala2Thr) rs1206106380
NM_022041.3(GAN):c.500C>T (p.Thr167Met) rs143187097
NM_022041.3(GAN):c.505G>A (p.Glu169Lys) rs119485095
NM_022041.3(GAN):c.545T>A (p.Ile182Asn) rs1258332075
NM_022041.3(GAN):c.564C>G (p.Asn188Lys) rs201884522
NM_022041.3(GAN):c.564C>T (p.Asn188=) rs201884522
NM_022041.3(GAN):c.56C>A (p.Ala19Glu) rs886052332
NM_022041.3(GAN):c.575A>G (p.Glu192Gly) rs1597401698
NM_022041.3(GAN):c.581A>T (p.Tyr194Phe) rs1567491555
NM_022041.3(GAN):c.583G>T (p.Val195Phe) rs1432344872
NM_022041.3(GAN):c.600T>C (p.Ile200=) rs1024446964
NM_022041.3(GAN):c.601C>T (p.Arg201Ter) rs119485090
NM_022041.3(GAN):c.602G>A (p.Arg201Gln) rs967957134
NM_022041.3(GAN):c.633+1G>T rs1597401738
NM_022041.3(GAN):c.633G>C (p.Lys211Asn) rs201676105
NM_022041.3(GAN):c.634-6C>T rs199874705
NM_022041.3(GAN):c.647A>T (p.Asp216Val) rs1367661696
NM_022041.3(GAN):c.660T>C (p.Ala220=) rs1555511259
NM_022041.3(GAN):c.670T>G (p.Ser224Ala) rs139055455
NM_022041.3(GAN):c.683C>A (p.Ser228Tyr) rs1301648787
NM_022041.3(GAN):c.695G>A (p.Arg232Gln) rs760587601
NM_022041.3(GAN):c.715C>G (p.Pro239Ala) rs184128641
NM_022041.3(GAN):c.724C>T (p.Arg242Ter) rs764816887
NM_022041.3(GAN):c.72C>G (p.Arg24=) rs369086429
NM_022041.3(GAN):c.730A>G (p.Ile244Val) rs200749953
NM_022041.3(GAN):c.732del (p.Ile244fs) rs1597402826
NM_022041.3(GAN):c.741G>A (p.Glu247=) rs781606880
NM_022041.3(GAN):c.743G>A (p.Cys248Tyr) rs377034780
NM_022041.3(GAN):c.756G>T (p.Pro252=) rs138585506
NM_022041.3(GAN):c.75G>A (p.Glu25=) rs754548795
NM_022041.3(GAN):c.767C>A (p.Pro256Gln) rs773154188
NM_022041.3(GAN):c.794A>G (p.Asn265Ser) rs982338741
NM_022041.3(GAN):c.801A>G (p.Lys267=) rs746799355
NM_022041.3(GAN):c.805C>T (p.Arg269Trp) rs776397915
NM_022041.3(GAN):c.806G>A (p.Arg269Gln) rs759581558
NM_022041.3(GAN):c.819G>A (p.Glu273=) rs987754331
NM_022041.3(GAN):c.82C>G (p.Arg28Gly) rs747806896
NM_022041.3(GAN):c.838G>A (p.Gly280Arg) rs1270020554
NM_022041.3(GAN):c.851+1G>A rs747291494
NM_022041.3(GAN):c.852-8T>C rs780786555
NM_022041.3(GAN):c.857G>A (p.Arg286Gln) rs922025345
NM_022041.3(GAN):c.862C>G (p.Pro288Ala) rs1249160013
NM_022041.3(GAN):c.873G>A (p.Ala291=) rs749264810
NM_022041.3(GAN):c.877C>T (p.Arg293Ter) rs370358470
NM_022041.3(GAN):c.884T>C (p.Met295Thr) rs747687913
NM_022041.3(GAN):c.896A>C (p.Tyr299Ser) rs1254823893
NM_022041.3(GAN):c.896A>G (p.Tyr299Cys) rs1254823893
NM_022041.3(GAN):c.926T>G (p.Leu309Arg) rs1597403384
NM_022041.3(GAN):c.944C>T (p.Pro315Leu) rs144486241
NM_022041.3(GAN):c.945G>A (p.Pro315=) rs139230642
NM_022041.3(GAN):c.971C>T (p.Ala324Val) rs778244338
NM_022041.3(GAN):c.973+4C>G rs189406050
NM_022041.3(GAN):c.973+6G>A rs372665411
NM_022041.3(GAN):c.973G>A (p.Glu325Lys) rs1597403411
NM_022041.3(GAN):c.974-11G>C rs753746307
NM_022041.3(GAN):c.974-8C>A rs1463640637
NM_022041.3(GAN):c.98A>C (p.His33Pro) rs1597385674
NM_022041.3(GAN):c.993C>T (p.Phe331=) rs199908897
NM_022041.3(GAN):c.994G>A (p.Gly332Arg) rs1567494825
NM_022041.4(GAN):c.*1029C>T
NM_022041.4(GAN):c.*1102A>G
NM_022041.4(GAN):c.*1113G>A
NM_022041.4(GAN):c.*1138A>G
NM_022041.4(GAN):c.*1557C>A
NM_022041.4(GAN):c.*1670C>T
NM_022041.4(GAN):c.*176G>T
NM_022041.4(GAN):c.*1820G>A
NM_022041.4(GAN):c.*1949G>C
NM_022041.4(GAN):c.*211C>T
NM_022041.4(GAN):c.*2125A>G
NM_022041.4(GAN):c.*227G>A
NM_022041.4(GAN):c.*2332T>A
NM_022041.4(GAN):c.*237T>A
NM_022041.4(GAN):c.*2532T>C
NM_022041.4(GAN):c.*360G>A
NM_022041.4(GAN):c.*48C>T
NM_022041.4(GAN):c.*644T>C
NM_022041.4(GAN):c.*733G>A
NM_022041.4(GAN):c.*747G>T
NM_022041.4(GAN):c.-15G>C
NM_022041.4(GAN):c.1020T>A (p.Thr340=)
NM_022041.4(GAN):c.1038G>A (p.Lys346=)
NM_022041.4(GAN):c.1086+1G>C rs1597405785
NM_022041.4(GAN):c.108C>T (p.Leu36=)
NM_022041.4(GAN):c.1123A>T (p.Met375Leu)
NM_022041.4(GAN):c.1162del (p.Glu387_Leu388insTer)
NM_022041.4(GAN):c.1178G>A (p.Cys393Tyr)
NM_022041.4(GAN):c.1183G>A (p.Asp395Asn)
NM_022041.4(GAN):c.1193C>G (p.Ser398Cys)
NM_022041.4(GAN):c.1208A>G (p.Lys403Arg)
NM_022041.4(GAN):c.1212A>G (p.Gln404=)
NM_022041.4(GAN):c.1229T>G (p.Val410Gly)
NM_022041.4(GAN):c.1245C>T (p.Cys415=)
NM_022041.4(GAN):c.1248T>C (p.Tyr416=)
NM_022041.4(GAN):c.1251A>G (p.Ala417=)
NM_022041.4(GAN):c.1367_1369del (p.Glu456_Arg457delinsGly)
NM_022041.4(GAN):c.1373+4C>G
NM_022041.4(GAN):c.1373+4C>T
NM_022041.4(GAN):c.1382C>T (p.Ala461Val)
NM_022041.4(GAN):c.1384G>A (p.Val462Met)
NM_022041.4(GAN):c.1388C>T (p.Ala463Val)
NM_022041.4(GAN):c.1398T>C (p.Val466=)
NM_022041.4(GAN):c.1410G>C (p.Leu470=)
NM_022041.4(GAN):c.1412A>G (p.Tyr471Cys)
NM_022041.4(GAN):c.1412A>T (p.Tyr471Phe)
NM_022041.4(GAN):c.1418T>C (p.Phe473Ser)
NM_022041.4(GAN):c.1436G>A (p.Arg479His)
NM_022041.4(GAN):c.1485C>A (p.Tyr495Ter)
NM_022041.4(GAN):c.148G>T (p.Ala50Ser)
NM_022041.4(GAN):c.1494G>A (p.Glu498=)
NM_022041.4(GAN):c.1499A>G (p.Lys500Arg)
NM_022041.4(GAN):c.14G>A (p.Ser5Asn)
NM_022041.4(GAN):c.14G>C (p.Ser5Thr)
NM_022041.4(GAN):c.1539C>T (p.Pro513=)
NM_022041.4(GAN):c.1565C>T (p.Ala522Val)
NM_022041.4(GAN):c.1577G>T (p.Gly526Val)
NM_022041.4(GAN):c.1612+4A>G
NM_022041.4(GAN):c.1624G>A (p.Asp542Asn)
NM_022041.4(GAN):c.1658C>A (p.Thr553Asn)
NM_022041.4(GAN):c.167+4G>C
NM_022041.4(GAN):c.1688C>G (p.Ser563Cys)
NM_022041.4(GAN):c.1707A>G (p.Gly569=)
NM_022041.4(GAN):c.1714G>C (p.Ala572Pro)
NM_022041.4(GAN):c.1715C>G (p.Ala572Gly)
NM_022041.4(GAN):c.1734C>G (p.Cys578Trp)
NM_022041.4(GAN):c.1745G>A (p.Arg582His)
NM_022041.4(GAN):c.1778G>A (p.Arg593His)
NM_022041.4(GAN):c.1788C>A (p.Ser596=)
NM_022041.4(GAN):c.198T>G (p.Asp66Glu)
NM_022041.4(GAN):c.238G>C (p.Val80Leu)
NM_022041.4(GAN):c.247A>G (p.Met83Val)
NM_022041.4(GAN):c.274A>C (p.Ser92Arg)
NM_022041.4(GAN):c.275G>T (p.Ser92Ile)
NM_022041.4(GAN):c.282+7_282+9del
NM_022041.4(GAN):c.282G>A (p.Gln94=)
NM_022041.4(GAN):c.283-15A>G
NM_022041.4(GAN):c.283-3T>A
NM_022041.4(GAN):c.295G>A (p.Glu99Lys)
NM_022041.4(GAN):c.304A>G (p.Ile102Val)
NM_022041.4(GAN):c.313GTT[1] (p.Val106del)
NM_022041.4(GAN):c.331C>T (p.Leu111=)
NM_022041.4(GAN):c.333G>A (p.Leu111=)
NM_022041.4(GAN):c.338T>G (p.Leu113Arg)
NM_022041.4(GAN):c.358C>A (p.Leu120Met)
NM_022041.4(GAN):c.384del (p.Gly127_Cys128insTer)
NM_022041.4(GAN):c.405T>A (p.Ile135=)
NM_022041.4(GAN):c.417C>G (p.Asp139Glu)
NM_022041.4(GAN):c.426A>C (p.Leu142=)
NM_022041.4(GAN):c.427C>G (p.His143Asp)
NM_022041.4(GAN):c.431A>G (p.Tyr144Cys)
NM_022041.4(GAN):c.440A>G (p.His147Arg)
NM_022041.4(GAN):c.442C>G (p.His148Asp)
NM_022041.4(GAN):c.471G>A (p.Leu157=)
NM_022041.4(GAN):c.476C>T (p.Thr159Ile)
NM_022041.4(GAN):c.487G>C (p.Asp163His)
NM_022041.4(GAN):c.501G>A (p.Thr167=)
NM_022041.4(GAN):c.519G>C (p.Leu173=)
NM_022041.4(GAN):c.528A>G (p.Gln176=)
NM_022041.4(GAN):c.558G>A (p.Lys186=)
NM_022041.4(GAN):c.565G>A (p.Val189Ile)
NM_022041.4(GAN):c.572A>G (p.Asn191Ser)
NM_022041.4(GAN):c.625A>G (p.Ile209Val)
NM_022041.4(GAN):c.62G>C (p.Ser21Thr)
NM_022041.4(GAN):c.633+1G>A
NM_022041.4(GAN):c.637C>A (p.His213Asn)
NM_022041.4(GAN):c.63C>T (p.Ser21=)
NM_022041.4(GAN):c.640A>G (p.Met214Val)
NM_022041.4(GAN):c.640A>T (p.Met214Leu)
NM_022041.4(GAN):c.642G>A (p.Met214Ile)
NM_022041.4(GAN):c.671C>T (p.Ser224Leu)
NM_022041.4(GAN):c.675G>T (p.Gly225=)
NM_022041.4(GAN):c.682T>C (p.Ser228Pro)
NM_022041.4(GAN):c.705G>A (p.Met235Ile)
NM_022041.4(GAN):c.725G>A (p.Arg242Gln)
NM_022041.4(GAN):c.756G>A (p.Pro252=)
NM_022041.4(GAN):c.759C>T (p.Leu253=)
NM_022041.4(GAN):c.761G>A (p.Ser254Asn)
NM_022041.4(GAN):c.782C>T (p.Ala261Val)
NM_022041.4(GAN):c.783G>T (p.Ala261=)
NM_022041.4(GAN):c.846G>C (p.Glu282Asp)
NM_022041.4(GAN):c.852-5del
NM_022041.4(GAN):c.856C>T (p.Arg286Trp)
NM_022041.4(GAN):c.868G>T (p.Ala290Ser)
NM_022041.4(GAN):c.890C>T (p.Pro297Leu) rs771785420
NM_022041.4(GAN):c.902dup (p.Pro301_Asn302insTer)
NM_022041.4(GAN):c.904A>G (p.Asn302Asp)
NM_022041.4(GAN):c.922G>A (p.Glu308Lys)
NM_022041.4(GAN):c.955C>A (p.His319Asn)
NM_022041.4(GAN):c.967T>C (p.Ser323Pro)
NM_022041.4(GAN):c.970G>T (p.Ala324Ser)
NM_022041.4(GAN):c.976G>C (p.Gly326Arg)
NM_022041.4(GAN):c.988G>T (p.Val330Leu)
NM_022041.4(GAN):c.990A>G (p.Val330=)
NM_022041.4(GAN):c.993del (p.Phe331fs)
NM_022041.4(GAN):c.9G>A (p.Glu3=)

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