ClinVar Miner

List of variants studied for axonal neuropathy by Invitae

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 517
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022041.4(GAN):c.1293C>T (p.Tyr431=) rs2608555 0.21491
NM_022041.4(GAN):c.46C>T (p.Leu16=) rs77470936 0.00993
NM_022041.4(GAN):c.1612+13C>G rs80326128 0.00917
NM_022041.4(GAN):c.1239C>T (p.Ile413=) rs61740238 0.00609
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00388
NM_022041.4(GAN):c.1182C>T (p.Tyr394=) rs150102659 0.00357
NM_022041.4(GAN):c.1502+11A>G rs143413333 0.00263
NM_022041.4(GAN):c.1445C>T (p.Ala482Val) rs146576740 0.00169
NM_022041.4(GAN):c.633+19A>G rs112194888 0.00138
NM_022041.4(GAN):c.1612+12A>G rs150344737 0.00135
NM_022041.4(GAN):c.1162C>T (p.Leu388=) rs73589395 0.00103
NM_022041.4(GAN):c.283-20T>C rs371984923 0.00093
NM_022041.4(GAN):c.355A>T (p.Thr119Ser) rs141396595 0.00086
NM_022041.4(GAN):c.730A>G (p.Ile244Val) rs200749953 0.00051
NM_022041.4(GAN):c.358C>T (p.Leu120=) rs113655220 0.00044
NM_022041.4(GAN):c.973+6G>A rs372665411 0.00044
NM_022041.4(GAN):c.974-11G>C rs753746307 0.00026
NM_022041.4(GAN):c.237G>A (p.Ser79=) rs144007114 0.00022
NM_022041.4(GAN):c.670T>G (p.Ser224Ala) rs139055455 0.00022
NM_022041.4(GAN):c.283-14T>C rs369700456 0.00019
NM_022041.4(GAN):c.156C>T (p.Ser52=) rs377611091 0.00014
NM_022041.4(GAN):c.634-15T>C rs367608270 0.00013
NM_022041.4(GAN):c.1323T>C (p.Tyr441=) rs368072478 0.00011
NM_022041.4(GAN):c.672A>G (p.Ser224=) rs143692174 0.00011
NM_022041.4(GAN):c.944C>T (p.Pro315Leu) rs144486241 0.00011
NM_022041.4(GAN):c.1511A>G (p.Tyr504Cys) rs147864771 0.00010
NM_022041.4(GAN):c.1630G>A (p.Val544Met) rs200071978 0.00010
NM_022041.4(GAN):c.1199C>G (p.Thr400Ser) rs368571975 0.00009
NM_022041.4(GAN):c.945G>A (p.Pro315=) rs139230642 0.00009
NM_022041.4(GAN):c.671C>T (p.Ser224Leu) rs554667758 0.00008
NM_022041.4(GAN):c.1101C>T (p.Phe367=) rs142479585 0.00007
NM_022041.4(GAN):c.756G>A (p.Pro252=) rs138585506 0.00007
NM_022041.4(GAN):c.846G>C (p.Glu282Asp) rs778114770 0.00007
NM_022041.4(GAN):c.1327C>A (p.Pro443Thr) rs150043237 0.00006
NM_022041.4(GAN):c.1373+18G>A rs187260981 0.00006
NM_022041.4(GAN):c.1444G>A (p.Ala482Thr) rs369693274 0.00006
NM_022041.4(GAN):c.1539C>T (p.Pro513=) rs774396975 0.00006
NM_022041.4(GAN):c.501G>A (p.Thr167=) rs770663433 0.00006
NM_022041.4(GAN):c.72C>G (p.Arg24=) rs369086429 0.00006
NM_022041.4(GAN):c.782C>T (p.Ala261Val) rs574374537 0.00006
NM_022041.4(GAN):c.795C>G (p.Asn265Lys) rs373811145 0.00006
NM_022041.4(GAN):c.1208A>G (p.Lys403Arg) rs780241559 0.00005
NM_022041.4(GAN):c.1065A>C (p.Thr355=) rs370426264 0.00004
NM_022041.4(GAN):c.1087-16G>A rs767079895 0.00004
NM_022041.4(GAN):c.1148A>T (p.Asp383Val) rs768562044 0.00004
NM_022041.4(GAN):c.1519G>A (p.Asp507Asn) rs775432106 0.00004
NM_022041.4(GAN):c.1689C>T (p.Ser563=) rs375075356 0.00004
NM_022041.4(GAN):c.1715C>G (p.Ala572Gly) rs778978997 0.00004
NM_022041.4(GAN):c.444C>T (p.His148=) rs764605890 0.00004
NM_022041.4(GAN):c.445G>A (p.Val149Ile) rs369703737 0.00004
NM_022041.4(GAN):c.682T>C (p.Ser228Pro) rs150589329 0.00004
NM_022041.4(GAN):c.75G>A (p.Glu25=) rs754548795 0.00004
NM_022041.4(GAN):c.1147G>A (p.Asp383Asn) rs181568741 0.00003
NM_022041.4(GAN):c.1195A>G (p.Lys399Glu) rs368231984 0.00003
NM_022041.4(GAN):c.1373+5G>A rs370881573 0.00003
NM_022041.4(GAN):c.1374-19G>A rs774299994 0.00003
NM_022041.4(GAN):c.1778G>A (p.Arg593His) rs751430474 0.00003
NM_022041.4(GAN):c.238G>C (p.Val80Leu) rs146629249 0.00003
NM_022041.4(GAN):c.282+15_282+18del rs778175591 0.00003
NM_022041.4(GAN):c.283-15A>G rs754182168 0.00003
NM_022041.4(GAN):c.345G>A (p.Thr115=) rs768322742 0.00003
NM_022041.4(GAN):c.479A>G (p.His160Arg) rs373474009 0.00003
NM_022041.4(GAN):c.490G>A (p.Val164Ile) rs778744880 0.00003
NM_022041.4(GAN):c.564C>T (p.Asn188=) rs201884522 0.00003
NM_022041.4(GAN):c.701A>T (p.Gln234Leu) rs1323162015 0.00003
NM_022041.4(GAN):c.805C>T (p.Arg269Trp) rs776397915 0.00003
NM_022041.4(GAN):c.80C>G (p.Ser27Cys) rs778653431 0.00003
NM_022041.4(GAN):c.82C>G (p.Arg28Gly) rs747806896 0.00003
NM_022041.4(GAN):c.1016A>G (p.Gln339Arg) rs1462816857 0.00002
NM_022041.4(GAN):c.1045C>T (p.Pro349Ser) rs374004725 0.00002
NM_022041.4(GAN):c.1170C>T (p.Ser390=) rs761777220 0.00002
NM_022041.4(GAN):c.1171A>G (p.Met391Val) rs367600164 0.00002
NM_022041.4(GAN):c.1251A>G (p.Ala417=) rs765463525 0.00002
NM_022041.4(GAN):c.1368G>C (p.Glu456Asp) rs1034754708 0.00002
NM_022041.4(GAN):c.1388C>T (p.Ala463Val) rs200342055 0.00002
NM_022041.4(GAN):c.1518C>T (p.Asn506=) rs886052333 0.00002
NM_022041.4(GAN):c.159G>T (p.Pro53=) rs753351243 0.00002
NM_022041.4(GAN):c.167+4G>C rs778330202 0.00002
NM_022041.4(GAN):c.1678C>T (p.Leu560Phe) rs143179676 0.00002
NM_022041.4(GAN):c.1788C>A (p.Ser596=) rs780630449 0.00002
NM_022041.4(GAN):c.311A>G (p.Asp104Gly) rs773783945 0.00002
NM_022041.4(GAN):c.330C>T (p.Asp110=) rs200045368 0.00002
NM_022041.4(GAN):c.528A>G (p.Gln176=) rs112693832 0.00002
NM_022041.4(GAN):c.625A>G (p.Ile209Val) rs369789553 0.00002
NM_022041.4(GAN):c.755C>T (p.Pro252Leu) rs768875907 0.00002
NM_022041.4(GAN):c.761G>A (p.Ser254Asn) rs748422716 0.00002
NM_022041.4(GAN):c.862C>G (p.Pro288Ala) rs1249160013 0.00002
NM_022041.4(GAN):c.1017G>A (p.Gln339=) rs201451382 0.00001
NM_022041.4(GAN):c.1038G>A (p.Lys346=) rs751149887 0.00001
NM_022041.4(GAN):c.1059A>G (p.Thr353=) rs1270126640 0.00001
NM_022041.4(GAN):c.1084G>A (p.Glu362Lys) rs587779384 0.00001
NM_022041.4(GAN):c.1086+8A>C rs766772301 0.00001
NM_022041.4(GAN):c.1086+9C>G rs762904814 0.00001
NM_022041.4(GAN):c.1087-17C>T rs761900137 0.00001
NM_022041.4(GAN):c.108C>T (p.Leu36=) rs1480718608 0.00001
NM_022041.4(GAN):c.1102G>A (p.Gly368Arg) rs758756818 0.00001
NM_022041.4(GAN):c.1123A>T (p.Met375Leu) rs201252856 0.00001
NM_022041.4(GAN):c.1165A>T (p.Ile389Phe) rs1471052510 0.00001
NM_022041.4(GAN):c.1193C>G (p.Ser398Cys) rs1334144379 0.00001
NM_022041.4(GAN):c.1212A>G (p.Gln404=) rs1273605833 0.00001
NM_022041.4(GAN):c.1229T>G (p.Val410Gly) rs1484191388 0.00001
NM_022041.4(GAN):c.1236+11C>T rs760722729 0.00001
NM_022041.4(GAN):c.1241G>A (p.Gly414Asp) rs761827117 0.00001
NM_022041.4(GAN):c.1252G>C (p.Ala418Pro) rs752800283 0.00001
NM_022041.4(GAN):c.1272C>T (p.Tyr424=) rs1386745649 0.00001
NM_022041.4(GAN):c.1276A>G (p.Met426Val) rs757050107 0.00001
NM_022041.4(GAN):c.1287C>T (p.Gly429=) rs563049431 0.00001
NM_022041.4(GAN):c.1382C>T (p.Ala461Val) rs753748994 0.00001
NM_022041.4(GAN):c.1383G>A (p.Ala461=) rs147725941 0.00001
NM_022041.4(GAN):c.1384G>A (p.Val462Met) rs199870222 0.00001
NM_022041.4(GAN):c.1391G>A (p.Cys464Tyr) rs777535272 0.00001
NM_022041.4(GAN):c.1402A>G (p.Met468Val) rs375408288 0.00001
NM_022041.4(GAN):c.1412A>G (p.Tyr471Cys) rs769076379 0.00001
NM_022041.4(GAN):c.1416G>A (p.Val472=) rs998119133 0.00001
NM_022041.4(GAN):c.1430G>A (p.Arg477Gln) rs748209210 0.00001
NM_022041.4(GAN):c.1436G>A (p.Arg479His) rs750919773 0.00001
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys) rs119485088 0.00001
NM_022041.4(GAN):c.1476C>T (p.Ser492=) rs756866064 0.00001
NM_022041.4(GAN):c.1477G>A (p.Glu493Lys) rs780427229 0.00001
NM_022041.4(GAN):c.1494G>C (p.Glu498Asp) rs755423556 0.00001
NM_022041.4(GAN):c.1499A>G (p.Lys500Arg) rs199515586 0.00001
NM_022041.4(GAN):c.14G>A (p.Ser5Asn) rs768368918 0.00001
NM_022041.4(GAN):c.14G>C (p.Ser5Thr) rs768368918 0.00001
NM_022041.4(GAN):c.1590T>C (p.Tyr530=) rs1474222234 0.00001
NM_022041.4(GAN):c.1596T>C (p.Ile532=) rs371157573 0.00001
NM_022041.4(GAN):c.1612+4A>G rs376218401 0.00001
NM_022041.4(GAN):c.1624G>A (p.Asp542Asn) rs747972511 0.00001
NM_022041.4(GAN):c.1628A>G (p.Tyr543Cys) rs879253958 0.00001
NM_022041.4(GAN):c.1629C>T (p.Tyr543=) rs772065469 0.00001
NM_022041.4(GAN):c.1658C>A (p.Thr553Asn) rs759200321 0.00001
NM_022041.4(GAN):c.167+16C>G rs1377956860 0.00001
NM_022041.4(GAN):c.168-5C>G rs1355051159 0.00001
NM_022041.4(GAN):c.1686A>C (p.Pro562=) rs1306397594 0.00001
NM_022041.4(GAN):c.1714G>C (p.Ala572Pro) rs554430005 0.00001
NM_022041.4(GAN):c.173A>G (p.Lys58Arg) rs1265285256 0.00001
NM_022041.4(GAN):c.1772G>A (p.Arg591His) rs777556243 0.00001
NM_022041.4(GAN):c.17C>T (p.Ala6Val) rs773384073 0.00001
NM_022041.4(GAN):c.23C>G (p.Ser8Cys) rs587781251 0.00001
NM_022041.4(GAN):c.244G>C (p.Val82Leu) rs371054532 0.00001
NM_022041.4(GAN):c.247A>G (p.Met83Val) rs770847887 0.00001
NM_022041.4(GAN):c.27C>T (p.Asp9=) rs777103014 0.00001
NM_022041.4(GAN):c.282G>A (p.Gln94=) rs1039007762 0.00001
NM_022041.4(GAN):c.283-10A>G rs759028377 0.00001
NM_022041.4(GAN):c.295G>A (p.Glu99Lys) rs746154353 0.00001
NM_022041.4(GAN):c.307C>T (p.Gln103Ter) rs1313883569 0.00001
NM_022041.4(GAN):c.333G>C (p.Leu111=) rs753122436 0.00001
NM_022041.4(GAN):c.403A>G (p.Ile135Val) rs748121633 0.00001
NM_022041.4(GAN):c.405T>A (p.Ile135=) rs771476213 0.00001
NM_022041.4(GAN):c.417C>G (p.Asp139Glu) rs770618198 0.00001
NM_022041.4(GAN):c.428A>G (p.His143Arg) rs1330501647 0.00001
NM_022041.4(GAN):c.453C>T (p.Tyr151=) rs762452364 0.00001
NM_022041.4(GAN):c.471G>A (p.Leu157=) rs143704621 0.00001
NM_022041.4(GAN):c.492C>T (p.Val164=) rs553692036 0.00001
NM_022041.4(GAN):c.4G>A (p.Ala2Thr) rs1206106380 0.00001
NM_022041.4(GAN):c.500C>T (p.Thr167Met) rs143187097 0.00001
NM_022041.4(GAN):c.565G>A (p.Val189Ile) rs766484755 0.00001
NM_022041.4(GAN):c.580T>G (p.Tyr194Asp) rs1910428014 0.00001
NM_022041.4(GAN):c.602G>A (p.Arg201Gln) rs967957134 0.00001
NM_022041.4(GAN):c.634-6C>T rs199874705 0.00001
NM_022041.4(GAN):c.637C>A (p.His213Asn) rs755664230 0.00001
NM_022041.4(GAN):c.638A>G (p.His213Arg) rs749117247 0.00001
NM_022041.4(GAN):c.63C>T (p.Ser21=) rs756187093 0.00001
NM_022041.4(GAN):c.642G>A (p.Met214Ile) rs374659636 0.00001
NM_022041.4(GAN):c.695G>A (p.Arg232Gln) rs760587601 0.00001
NM_022041.4(GAN):c.715C>G (p.Pro239Ala) rs184128641 0.00001
NM_022041.4(GAN):c.725G>A (p.Arg242Gln) rs371906996 0.00001
NM_022041.4(GAN):c.741G>A (p.Glu247=) rs781606880 0.00001
NM_022041.4(GAN):c.743G>A (p.Cys248Tyr) rs377034780 0.00001
NM_022041.4(GAN):c.787C>A (p.Leu263Met) rs777669477 0.00001
NM_022041.4(GAN):c.801A>G (p.Lys267=) rs746799355 0.00001
NM_022041.4(GAN):c.822C>T (p.Cys274=) rs1437220056 0.00001
NM_022041.4(GAN):c.831T>G (p.Thr277=) rs1337406075 0.00001
NM_022041.4(GAN):c.851+1G>A rs747291494 0.00001
NM_022041.4(GAN):c.852-8T>C rs780786555 0.00001
NM_022041.4(GAN):c.856C>T (p.Arg286Trp) rs756000444 0.00001
NM_022041.4(GAN):c.868G>T (p.Ala290Ser) rs943541215 0.00001
NM_022041.4(GAN):c.877C>T (p.Arg293Ter) rs370358470 0.00001
NM_022041.4(GAN):c.884T>C (p.Met295Thr) rs747687913 0.00001
NM_022041.4(GAN):c.937A>G (p.Ser313Gly) rs751666826 0.00001
NM_022041.4(GAN):c.955C>A (p.His319Asn) rs779893652 0.00001
NM_022041.4(GAN):c.973+9C>G rs1383717688 0.00001
NM_022041.4(GAN):c.974-13T>C rs996280683 0.00001
NM_022041.4(GAN):c.993C>T (p.Phe331=) rs199908897 0.00001
NC_000016.9:g.(?_80623263)_(81411221_?)del
NC_000016.9:g.(?_81348719)_(81348905_?)dup
NC_000016.9:g.(?_81348719)_(81396236_?)dup
NC_000016.9:g.(?_81348719)_(81411201_?)dup
NC_000016.9:g.(?_81396084)_(81411201_?)dup
NM_022041.4(GAN):c.*1GGA[1] (p.Ter598=) rs781299447
NM_022041.4(GAN):c.1012A>G (p.Lys338Glu)
NM_022041.4(GAN):c.1012A>T (p.Lys338Ter) rs1181977802
NM_022041.4(GAN):c.1015C>G (p.Gln339Glu) rs759342719
NM_022041.4(GAN):c.1020T>A (p.Thr340=) rs1404742641
NM_022041.4(GAN):c.1022T>C (p.Leu341Pro) rs1555511769
NM_022041.4(GAN):c.1037A>G (p.Lys346Arg) rs2150690226
NM_022041.4(GAN):c.1045C>G (p.Pro349Ala) rs374004725
NM_022041.4(GAN):c.1048G>A (p.Asp350Asn)
NM_022041.4(GAN):c.1051G>T (p.Ala351Ser)
NM_022041.4(GAN):c.1059A>C (p.Thr353=)
NM_022041.4(GAN):c.1074A>G (p.Pro358=)
NM_022041.4(GAN):c.1086+10T>G
NM_022041.4(GAN):c.1086+13T>G
NM_022041.4(GAN):c.1086+19_1086+22del rs1215210527
NM_022041.4(GAN):c.1086+25_1086+28del rs561109989
NM_022041.4(GAN):c.1094A>G (p.His365Arg)
NM_022041.4(GAN):c.10G>A (p.Gly4Ser) rs1908984034
NM_022041.4(GAN):c.1101C>A (p.Phe367Leu)
NM_022041.4(GAN):c.1118A>T (p.Asp373Val)
NM_022041.4(GAN):c.1123A>G (p.Met375Val) rs201252856
NM_022041.4(GAN):c.112G>A (p.Gly38Arg) rs1252273429
NM_022041.4(GAN):c.1139G>T (p.Gly380Val) rs1427637335
NM_022041.4(GAN):c.1140A>G (p.Gly380=)
NM_022041.4(GAN):c.1157del (p.Lys386fs) rs1555511861
NM_022041.4(GAN):c.1177T>C (p.Cys393Arg)
NM_022041.4(GAN):c.1178G>A (p.Cys393Tyr) rs951138056
NM_022041.4(GAN):c.1182C>A (p.Tyr394Ter)
NM_022041.4(GAN):c.1182C>G (p.Tyr394Ter)
NM_022041.4(GAN):c.1183G>A (p.Asp395Asn) rs142456623
NM_022041.4(GAN):c.1183G>C (p.Asp395His) rs142456623
NM_022041.4(GAN):c.118G>T (p.Glu40Ter)
NM_022041.4(GAN):c.1191T>A (p.Tyr397Ter)
NM_022041.4(GAN):c.1199C>T (p.Thr400Ile) rs368571975
NM_022041.4(GAN):c.1205C>T (p.Thr402Ile)
NM_022041.4(GAN):c.1209G>A (p.Lys403=)
NM_022041.4(GAN):c.1210C>G (p.Gln404Glu) rs1190709905
NM_022041.4(GAN):c.1213C>A (p.Pro405Thr) rs912274293
NM_022041.4(GAN):c.1220T>C (p.Leu407Ser)
NM_022041.4(GAN):c.1228G>A (p.Val410Ile)
NM_022041.4(GAN):c.1236+17G>T
NM_022041.4(GAN):c.1236+7A>T rs1910763781
NM_022041.4(GAN):c.1237-17T>C
NM_022041.4(GAN):c.123C>T (p.Ile41=)
NM_022041.4(GAN):c.1240G>A (p.Gly414Ser)
NM_022041.4(GAN):c.1245C>T (p.Cys415=) rs754447332
NM_022041.4(GAN):c.1248T>C (p.Tyr416=) rs2150691593
NM_022041.4(GAN):c.1260A>G (p.Lys420=)
NM_022041.4(GAN):c.1273G>A (p.Ala425Thr)
NM_022041.4(GAN):c.1287C>G (p.Gly429=) rs563049431
NM_022041.4(GAN):c.1310C>G (p.Ser437Cys) rs1464376673
NM_022041.4(GAN):c.1315G>A (p.Glu439Lys) rs2150691652
NM_022041.4(GAN):c.1327C>G (p.Pro443Ala) rs150043237
NM_022041.4(GAN):c.1329C>T (p.Pro443=)
NM_022041.4(GAN):c.1330A>C (p.Arg444=) rs2150691667
NM_022041.4(GAN):c.1332G>A (p.Arg444=)
NM_022041.4(GAN):c.1334C>T (p.Thr445Ile)
NM_022041.4(GAN):c.1335C>T (p.Thr445=) rs752853627
NM_022041.4(GAN):c.135G>A (p.Lys45=)
NM_022041.4(GAN):c.1360C>G (p.Leu454Val)
NM_022041.4(GAN):c.1367_1369del (p.Glu456_Arg457delinsGly) rs1910807452
NM_022041.4(GAN):c.1373+14G>A rs2150691717
NM_022041.4(GAN):c.1373+4C>G rs137934652
NM_022041.4(GAN):c.1373+4C>T rs137934652
NM_022041.4(GAN):c.1374-18C>G
NM_022041.4(GAN):c.1374-18C>T rs761982534
NM_022041.4(GAN):c.1374-20C>T
NM_022041.4(GAN):c.1377T>C (p.Phe459=)
NM_022041.4(GAN):c.1381G>A (p.Ala461Thr) rs766155831
NM_022041.4(GAN):c.1381_1382delinsTT (p.Ala461Leu) rs1597407293
NM_022041.4(GAN):c.1382C>A (p.Ala461Glu) rs753748994
NM_022041.4(GAN):c.1402A>T (p.Met468Leu) rs375408288
NM_022041.4(GAN):c.1408C>T (p.Leu470=)
NM_022041.4(GAN):c.1410G>C (p.Leu470=) rs1365354116
NM_022041.4(GAN):c.1412A>T (p.Tyr471Phe) rs769076379
NM_022041.4(GAN):c.1417T>C (p.Phe473Leu)
NM_022041.4(GAN):c.1418T>C (p.Phe473Ser) rs1910819905
NM_022041.4(GAN):c.141C>T (p.Ile47=)
NM_022041.4(GAN):c.1428C>T (p.Val476=)
NM_022041.4(GAN):c.142C>T (p.Leu48=)
NM_022041.4(GAN):c.1442A>G (p.Asp481Gly) rs1713848888
NM_022041.4(GAN):c.1442A>T (p.Asp481Val) rs1713848888
NM_022041.4(GAN):c.1446C>G (p.Ala482=) rs766129455
NM_022041.4(GAN):c.1474T>G (p.Ser492Ala) rs1597407371
NM_022041.4(GAN):c.1485C>A (p.Tyr495Ter) rs2150691981
NM_022041.4(GAN):c.148G>T (p.Ala50Ser) rs761981181
NM_022041.4(GAN):c.1494G>A (p.Glu498=) rs755423556
NM_022041.4(GAN):c.1502+11dup
NM_022041.4(GAN):c.1502+14G>T rs1173298687
NM_022041.4(GAN):c.1502+1G>T rs1555511978
NM_022041.4(GAN):c.1502+20C>G
NM_022041.4(GAN):c.1502+4A>G rs748724208
NM_022041.4(GAN):c.1503-16T>C
NM_022041.4(GAN):c.1503-6T>C
NM_022041.4(GAN):c.1503-7T>C rs1387006177
NM_022041.4(GAN):c.1503-8G>A
NM_022041.4(GAN):c.1506G>T (p.Trp502Cys) rs1324877107
NM_022041.4(GAN):c.1521C>T (p.Asp507=)
NM_022041.4(GAN):c.1525A>C (p.Asn509His)
NM_022041.4(GAN):c.1537C>G (p.Pro513Ala)
NM_022041.4(GAN):c.1540G>C (p.Ala514Pro) rs761202265
NM_022041.4(GAN):c.1544G>C (p.Ser515Thr) rs2150698818
NM_022041.4(GAN):c.1549T>C (p.Ser517Pro) rs1567501233
NM_022041.4(GAN):c.1560T>C (p.Tyr520=) rs2150698823
NM_022041.4(GAN):c.1565C>T (p.Ala522Val) rs1904284654
NM_022041.4(GAN):c.1577G>T (p.Gly526Val) rs1904284720
NM_022041.4(GAN):c.1593T>A (p.Val531=) rs141592516
NM_022041.4(GAN):c.1593T>G (p.Val531=) rs141592516
NM_022041.4(GAN):c.1612+15G>T
NM_022041.4(GAN):c.1612+16T>G
NM_022041.4(GAN):c.1612+7G>A
NM_022041.4(GAN):c.1616C>G (p.Thr539Ser)
NM_022041.4(GAN):c.1617C>T (p.Thr539=)
NM_022041.4(GAN):c.1629C>A (p.Tyr543Ter)
NM_022041.4(GAN):c.162C>T (p.Tyr54=)
NM_022041.4(GAN):c.1634G>T (p.Arg545Leu) rs746486469
NM_022041.4(GAN):c.1650C>T (p.Ser550=)
NM_022041.4(GAN):c.1651A>G (p.Thr551Ala)
NM_022041.4(GAN):c.1658C>G (p.Thr553Ser) rs759200321
NM_022041.4(GAN):c.1658C>T (p.Thr553Ile)
NM_022041.4(GAN):c.167+16C>T
NM_022041.4(GAN):c.167+5_167+6del
NM_022041.4(GAN):c.167G>A (p.Arg56Lys)
NM_022041.4(GAN):c.168-11C>T
NM_022041.4(GAN):c.168-12T>C
NM_022041.4(GAN):c.168-12dup
NM_022041.4(GAN):c.168-19A>G
NM_022041.4(GAN):c.1680C>G (p.Leu560=)
NM_022041.4(GAN):c.1688C>G (p.Ser563Cys) rs1378724061
NM_022041.4(GAN):c.1689C>A (p.Ser563=)
NM_022041.4(GAN):c.1690G>C (p.Asp564His) rs755259336
NM_022041.4(GAN):c.1697G>A (p.Arg566His)
NM_022041.4(GAN):c.1699C>T (p.Arg567Cys) rs886052335
NM_022041.4(GAN):c.1703C>T (p.Thr568Ile) rs2150698993
NM_022041.4(GAN):c.1707A>G (p.Gly569=) rs942456904
NM_022041.4(GAN):c.170C>T (p.Thr57Ile) rs2150683797
NM_022041.4(GAN):c.1713A>T (p.Ala571=)
NM_022041.4(GAN):c.1716C>G (p.Ala572=) rs1434797669
NM_022041.4(GAN):c.1716C>T (p.Ala572=)
NM_022041.4(GAN):c.1721G>A (p.Arg574His) rs1394459173
NM_022041.4(GAN):c.1723A>G (p.Ile575Val)
NM_022041.4(GAN):c.1723A>T (p.Ile575Phe)
NM_022041.4(GAN):c.1727C>T (p.Ala576Val)
NM_022041.4(GAN):c.1728G>C (p.Ala576=) rs150342446
NM_022041.4(GAN):c.1734C>G (p.Cys578Trp) rs1904285898
NM_022041.4(GAN):c.1744C>T (p.Arg582Cys) rs772385806
NM_022041.4(GAN):c.1745G>A (p.Arg582His) rs773845697
NM_022041.4(GAN):c.1745G>T (p.Arg582Leu)
NM_022041.4(GAN):c.1748T>C (p.Leu583Pro) rs766504625
NM_022041.4(GAN):c.1749G>A (p.Leu583=)
NM_022041.4(GAN):c.1758G>C (p.Gln586His)
NM_022041.4(GAN):c.1771C>T (p.Arg591Cys)
NM_022041.4(GAN):c.1783C>T (p.His595Tyr) rs757216350
NM_022041.4(GAN):c.1792del (p.Ter598GluextTer?) rs755084684
NM_022041.4(GAN):c.182A>G (p.Tyr61Cys)
NM_022041.4(GAN):c.188C>T (p.Pro63Leu) rs1400059269
NM_022041.4(GAN):c.18C>T (p.Ala6=)
NM_022041.4(GAN):c.198T>G (p.Asp66Glu) rs1910302068
NM_022041.4(GAN):c.200A>G (p.Asp67Gly) rs2150683815
NM_022041.4(GAN):c.201T>C (p.Asp67=)
NM_022041.4(GAN):c.204A>G (p.Gly68=)
NM_022041.4(GAN):c.206_213dup (p.Lys72fs)
NM_022041.4(GAN):c.216G>A (p.Lys72=) rs780435880
NM_022041.4(GAN):c.218T>C (p.Ile73Thr) rs377294873
NM_022041.4(GAN):c.231G>T (p.Gly77=)
NM_022041.4(GAN):c.238G>T (p.Val80Leu) rs146629249
NM_022041.4(GAN):c.246T>G (p.Val82=)
NM_022041.4(GAN):c.252A>G (p.Arg84=)
NM_022041.4(GAN):c.255G>A (p.Glu85=) rs911350150
NM_022041.4(GAN):c.25G>T (p.Asp9Tyr) rs1908985101
NM_022041.4(GAN):c.274A>C (p.Ser92Arg) rs1910305049
NM_022041.4(GAN):c.279G>T (p.Gly93=)
NM_022041.4(GAN):c.27C>G (p.Asp9Glu)
NM_022041.4(GAN):c.282+2T>A
NM_022041.4(GAN):c.282+7_282+9del rs563977770
NM_022041.4(GAN):c.283-3T>A rs1910414763
NM_022041.4(GAN):c.288G>A (p.Arg96=)
NM_022041.4(GAN):c.288G>T (p.Arg96Ser)
NM_022041.4(GAN):c.289C>G (p.Leu97Val)
NM_022041.4(GAN):c.28C>T (p.Pro10Ser)
NM_022041.4(GAN):c.293A>G (p.Asn98Ser)
NM_022041.4(GAN):c.29C>G (p.Pro10Arg) rs1597385631
NM_022041.4(GAN):c.300T>C (p.Asp100=) rs1910415566
NM_022041.4(GAN):c.301dup (p.Thr101fs) rs2150685528
NM_022041.4(GAN):c.304A>G (p.Ile102Val) rs779968294
NM_022041.4(GAN):c.313GTT[1] (p.Val106del) rs1567491395
NM_022041.4(GAN):c.322G>A (p.Ala108Thr) rs771660619
NM_022041.4(GAN):c.325G>C (p.Ala109Pro) rs1488932475
NM_022041.4(GAN):c.331C>T (p.Leu111=) rs765503261
NM_022041.4(GAN):c.333G>A (p.Leu111=) rs753122436
NM_022041.4(GAN):c.338T>G (p.Leu113Arg) rs1910417649
NM_022041.4(GAN):c.348C>G (p.Asp116Glu)
NM_022041.4(GAN):c.356C>G (p.Thr119Ser) rs750608407
NM_022041.4(GAN):c.357C>T (p.Thr119=)
NM_022041.4(GAN):c.358C>A (p.Leu120Met) rs113655220
NM_022041.4(GAN):c.374T>C (p.Leu125Ser) rs1555511093
NM_022041.4(GAN):c.375G>A (p.Leu125=) rs1226659286
NM_022041.4(GAN):c.37G>A (p.Ala13Thr)
NM_022041.4(GAN):c.381C>G (p.Gly127=)
NM_022041.4(GAN):c.384C>A (p.Cys128Ter)
NM_022041.4(GAN):c.384del (p.Gly127_Cys128insTer) rs1910419866
NM_022041.4(GAN):c.402T>C (p.Cys134=)
NM_022041.4(GAN):c.413G>A (p.Arg138His) rs119485092
NM_022041.4(GAN):c.423A>C (p.Ala141=)
NM_022041.4(GAN):c.426A>C (p.Leu142=) rs775953461
NM_022041.4(GAN):c.427C>G (p.His143Asp) rs1910421613
NM_022041.4(GAN):c.431A>G (p.Tyr144Cys) rs1910421798
NM_022041.4(GAN):c.440A>G (p.His147Arg) rs763438490
NM_022041.4(GAN):c.442C>G (p.His148Asp) rs1910422294
NM_022041.4(GAN):c.447T>G (p.Val149=)
NM_022041.4(GAN):c.450T>C (p.His150=)
NM_022041.4(GAN):c.465A>G (p.Glu155=)
NM_022041.4(GAN):c.476C>T (p.Thr159Ile) rs1201363054
NM_022041.4(GAN):c.478C>T (p.His160Tyr)
NM_022041.4(GAN):c.47_48delinsAC (p.Leu16His) rs2150663586
NM_022041.4(GAN):c.480T>C (p.His160=) rs1440332290
NM_022041.4(GAN):c.484C>G (p.Arg162Gly)
NM_022041.4(GAN):c.484C>T (p.Arg162Ter) rs1300267158
NM_022041.4(GAN):c.485G>A (p.Arg162Gln)
NM_022041.4(GAN):c.487G>C (p.Asp163His) rs1910424038
NM_022041.4(GAN):c.489C>T (p.Asp163=)
NM_022041.4(GAN):c.497G>C (p.Ser166Thr) rs758366654
NM_022041.4(GAN):c.497G>T (p.Ser166Ile)
NM_022041.4(GAN):c.502G>T (p.Glu168Ter) rs776404697
NM_022041.4(GAN):c.510C>G (p.Phe170Leu) rs1401068154
NM_022041.4(GAN):c.519G>C (p.Leu173=) rs2150685694
NM_022041.4(GAN):c.531G>C (p.Lys177Asn)
NM_022041.4(GAN):c.538G>C (p.Glu180Gln) rs768074318
NM_022041.4(GAN):c.53G>A (p.Arg18Gln)
NM_022041.4(GAN):c.558G>A (p.Lys186=) rs1193541281
NM_022041.4(GAN):c.564C>G (p.Asn188Lys) rs201884522
NM_022041.4(GAN):c.565G>T (p.Val189Phe) rs766484755
NM_022041.4(GAN):c.570C>G (p.Gly190=) rs993338852
NM_022041.4(GAN):c.573T>C (p.Asn191=)
NM_022041.4(GAN):c.575A>G (p.Glu192Gly) rs1597401698
NM_022041.4(GAN):c.57G>T (p.Ala19=) rs767263153
NM_022041.4(GAN):c.581A>T (p.Tyr194Phe) rs1567491555
NM_022041.4(GAN):c.582T>A (p.Tyr194Ter)
NM_022041.4(GAN):c.600T>C (p.Ile200=) rs1024446964
NM_022041.4(GAN):c.60C>G (p.Leu20=)
NM_022041.4(GAN):c.614A>G (p.His205Arg)
NM_022041.4(GAN):c.62G>C (p.Ser21Thr) rs1242438215
NM_022041.4(GAN):c.633+10A>G
NM_022041.4(GAN):c.633+11T>C
NM_022041.4(GAN):c.633+7G>A
NM_022041.4(GAN):c.633G>C (p.Lys211Asn) rs201676105
NM_022041.4(GAN):c.634-9C>T
NM_022041.4(GAN):c.639C>T (p.His213=) rs753515891
NM_022041.4(GAN):c.640A>G (p.Met214Val) rs778132221
NM_022041.4(GAN):c.640A>T (p.Met214Leu) rs778132221
NM_022041.4(GAN):c.647A>T (p.Asp216Val) rs1367661696
NM_022041.4(GAN):c.65_66delinsTA (p.Ser22Leu) rs2150663602
NM_022041.4(GAN):c.660T>C (p.Ala220=) rs1555511259
NM_022041.4(GAN):c.675G>T (p.Gly225=) rs1201072918
NM_022041.4(GAN):c.683C>A (p.Ser228Tyr) rs1301648787
NM_022041.4(GAN):c.687T>C (p.Ser229=)
NM_022041.4(GAN):c.6T>G (p.Ala2=)
NM_022041.4(GAN):c.703A>G (p.Met235Val)
NM_022041.4(GAN):c.705G>A (p.Met235Ile) rs1910503027
NM_022041.4(GAN):c.723A>T (p.Val241=)
NM_022041.4(GAN):c.735C>G (p.Val245=)
NM_022041.4(GAN):c.753A>C (p.Ile251=)
NM_022041.4(GAN):c.756G>T (p.Pro252=) rs138585506
NM_022041.4(GAN):c.759C>T (p.Leu253=) rs1046641258
NM_022041.4(GAN):c.767C>A (p.Pro256Gln) rs773154188
NM_022041.4(GAN):c.767C>T (p.Pro256Leu)
NM_022041.4(GAN):c.771G>A (p.Gln257=)
NM_022041.4(GAN):c.774A>G (p.Gln258=) rs200071920
NM_022041.4(GAN):c.779_780del (p.Glu260fs)
NM_022041.4(GAN):c.783G>A (p.Ala261=) rs774678754
NM_022041.4(GAN):c.783G>T (p.Ala261=) rs774678754
NM_022041.4(GAN):c.794A>G (p.Asn265Ser) rs982338741
NM_022041.4(GAN):c.79T>C (p.Ser27Pro)
NM_022041.4(GAN):c.800A>G (p.Lys267Arg) rs777669948
NM_022041.4(GAN):c.803C>T (p.Pro268Leu)
NM_022041.4(GAN):c.813C>T (p.Tyr271=)
NM_022041.4(GAN):c.815C>G (p.Ser272Cys)
NM_022041.4(GAN):c.819G>A (p.Glu273=) rs987754331
NM_022041.4(GAN):c.828G>A (p.Val276=)
NM_022041.4(GAN):c.830C>G (p.Thr277Ser)
NM_022041.4(GAN):c.833T>C (p.Val278Ala)
NM_022041.4(GAN):c.837T>C (p.Gly279=)
NM_022041.4(GAN):c.838G>A (p.Gly280Arg) rs1270020554
NM_022041.4(GAN):c.84C>T (p.Arg28=)
NM_022041.4(GAN):c.851+15G>A rs1254409580
NM_022041.4(GAN):c.851+7A>G
NM_022041.4(GAN):c.852-13T>C rs758517277
NM_022041.4(GAN):c.852-15T>G
NM_022041.4(GAN):c.852-17C>T
NM_022041.4(GAN):c.852-1G>T rs1408504352
NM_022041.4(GAN):c.852-4T>C
NM_022041.4(GAN):c.852-5del rs2150687565
NM_022041.4(GAN):c.852-6C>T
NM_022041.4(GAN):c.857G>A (p.Arg286Gln) rs922025345
NM_022041.4(GAN):c.873G>A (p.Ala291=) rs749264810
NM_022041.4(GAN):c.875T>C (p.Met292Thr)
NM_022041.4(GAN):c.879A>G (p.Arg293=)
NM_022041.4(GAN):c.882C>T (p.Cys294=)
NM_022041.4(GAN):c.891T>G (p.Pro297=)
NM_022041.4(GAN):c.894C>T (p.Leu298=)
NM_022041.4(GAN):c.902dup (p.Pro301_Asn302insTer) rs2150687608
NM_022041.4(GAN):c.904A>G (p.Asn302Asp) rs201937723
NM_022041.4(GAN):c.91G>C (p.Asp31His)
NM_022041.4(GAN):c.921C>A (p.Ile307=)
NM_022041.4(GAN):c.921C>T (p.Ile307=)
NM_022041.4(GAN):c.922G>A (p.Glu308Lys) rs1192845121
NM_022041.4(GAN):c.944C>G (p.Pro315Arg)
NM_022041.4(GAN):c.956A>G (p.His319Arg)
NM_022041.4(GAN):c.95C>T (p.Ala32Val) rs2150663622
NM_022041.4(GAN):c.967T>C (p.Ser323Pro) rs1910545724
NM_022041.4(GAN):c.970G>T (p.Ala324Ser) rs1910545878
NM_022041.4(GAN):c.973+13G>A
NM_022041.4(GAN):c.973+17A>C
NM_022041.4(GAN):c.973+19T>G rs2150687676
NM_022041.4(GAN):c.973+4C>G rs189406050
NM_022041.4(GAN):c.974-16C>G
NM_022041.4(GAN):c.974-16C>T rs2150690176
NM_022041.4(GAN):c.974-19T>A
NM_022041.4(GAN):c.974-2A>G rs2150690183
NM_022041.4(GAN):c.974-8C>A rs1463640637
NM_022041.4(GAN):c.976G>C (p.Gly326Arg) rs773294836
NM_022041.4(GAN):c.982T>C (p.Leu328=)
NM_022041.4(GAN):c.988G>T (p.Val330Leu) rs1910708136
NM_022041.4(GAN):c.990A>G (p.Val330=) rs1261401081
NM_022041.4(GAN):c.993del (p.Phe331fs) rs2150690197
NM_022041.4(GAN):c.994G>A (p.Gly332Arg) rs1567494825
NM_022041.4(GAN):c.996G>A (p.Gly332=) rs1429661395
NM_022041.4(GAN):c.998G>A (p.Gly333Asp)
NM_022041.4(GAN):c.9G>A (p.Glu3=) rs1028262778

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