ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2 by Invitae

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1582
Download table as spreadsheet
HGVS dbSNP
NC_000003.11:g.(?_128514201)_(128631967_?)dup
NC_000003.12:g.(?_128795358)_(128813432_?)dup
NC_000007.13:g.(?_75931813)_(75933510_?)dup
NC_000007.14:g.(?_76301442)_(76304183_?)dup
NC_000008.10:g.(?_24810303)_(24814049_?)dup
NC_000008.10:g.(?_24810313)_(24814039_?)dup
NC_000009.12:g.(?_127454518)_(127502909_?)dup
NC_000009.12:g.(?_127461163)_(127473941_?)del
NC_000009.12:g.(?_127502774)_(127503501_?)del
NC_000011.10:g.(?_68908125)_(68908651_?)del
NC_000014.9:g.(?_101925141)_(101964947_?)del
NC_000014.9:g.(?_102026564)_(102050573_?)dup
NC_000019.10:g.(?_10718233)_(10759821_?)dup
NC_000019.10:g.(?_10718233)_(10786716_?)dup
NC_000019.10:g.(?_10819960)_(10823919_?)dup
NC_000019.10:g.(?_10819970)_(10823909_?)dup
NC_000019.10:g.(?_10819970)_(10831057_?)dup
NC_000019.9:g.(?_10828899)_(10870507_?)dup
NC_000019.9:g.(?_10828899)_(10897402_?)dup
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp) rs771151036
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466
NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla) rs1469781984
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val) rs540744217
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly)
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) rs141018386
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) rs886042073
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
NM_001005360.2(DNM2):c.1010G>T (p.Gly337Val) rs767838513
NM_001005360.2(DNM2):c.1051G>A (p.Val351Met) rs876661176
NM_001005360.2(DNM2):c.1273C>A (p.Leu425Met) rs879253980
NM_001005360.2(DNM2):c.1304T>G (p.Leu435Arg) rs1555710681
NM_001005360.2(DNM2):c.1322A>G (p.Gln441Arg) rs1280243348
NM_001005360.2(DNM2):c.1335+1G>A rs1431565635
NM_001005360.2(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln) rs140043676
NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly) rs745748213
NM_001005360.2(DNM2):c.1418A>T (p.Asp473Val) rs766613900
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val) rs758246840
NM_001005360.2(DNM2):c.1526A>G (p.Lys509Arg) rs1555712608
NM_001005360.2(DNM2):c.1552A>G (p.Ile518Val) rs753402698
NM_001005360.2(DNM2):c.1594A>G (p.Ser532Gly) rs368752035
NM_001005360.2(DNM2):c.161+3G>A rs1555696272
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met) rs1568314284
NM_001005360.2(DNM2):c.1641C>A (p.Ala547=) rs538253489
NM_001005360.2(DNM2):c.1645T>A (p.Ser549Thr) rs144763522
NM_001005360.2(DNM2):c.1671+3G>C rs942932745
NM_001005360.2(DNM2):c.1718G>A (p.Arg573His) rs1555715216
NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn) rs35365412
NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met) rs372876881
NM_001005360.2(DNM2):c.1773G>A (p.Thr591=) rs201604679
NM_001005360.2(DNM2):c.177C>A (p.Arg59=) rs762795230
NM_001005360.2(DNM2):c.1781+6G>T rs1568318838
NM_001005360.2(DNM2):c.1782-7C>A rs200843089
NM_001005360.2(DNM2):c.1852G>T (p.Ala618Ser) rs773598203
NM_001005360.2(DNM2):c.1858T>C (p.Phe620Leu) rs1274228418
NM_001005360.2(DNM2):c.1903G>A (p.Glu635Lys) rs761198315
NM_001005360.2(DNM2):c.1912G>A (p.Ala638Thr) rs587778236
NM_001005360.2(DNM2):c.1952G>A (p.Arg651Gln) rs1568321851
NM_001005360.2(DNM2):c.1969C>T (p.Arg657Cys) rs772920450
NM_001005360.2(DNM2):c.200G>A (p.Arg67Gln) rs752080566
NM_001005360.2(DNM2):c.2011A>G (p.Ile671Val) rs1568321953
NM_001005360.2(DNM2):c.2023A>G (p.Met675Val) rs1555716140
NM_001005360.2(DNM2):c.2041C>A (p.His681Asn) rs1437296623
NM_001005360.2(DNM2):c.2105C>T (p.Ser702Leu) rs745382488
NM_001005360.2(DNM2):c.2144A>G (p.Gln715Arg) rs374041367
NM_001005360.2(DNM2):c.2197C>T (p.Leu733Phe) rs1568324227
NM_001005360.2(DNM2):c.2231T>C (p.Val744Ala) rs777609224
NM_001005360.2(DNM2):c.2233T>A (p.Ser745Thr) rs1568324267
NM_001005360.2(DNM2):c.2264C>A (p.Thr755Asn) rs754691182
NM_001005360.2(DNM2):c.2276G>A (p.Ser759Asn) rs879254300
NM_001005360.2(DNM2):c.2286C>A (p.Ser762Arg) rs1568324385
NM_001005360.2(DNM2):c.2291+4C>T rs200408852
NM_001005360.2(DNM2):c.2292C>T (p.Ser764=) rs779394836
NM_001005360.2(DNM2):c.2305C>T (p.Arg769Cys) rs374864354
NM_001005360.2(DNM2):c.2308C>T (p.Arg770Ter) rs1599641077
NM_001005360.2(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005360.2(DNM2):c.2372C>A (p.Pro791His) rs780738840
NM_001005360.2(DNM2):c.2411_2413del (p.Phe804del) rs752014734
NM_001005360.2(DNM2):c.2435G>A (p.Arg812Gln) rs1285468865
NM_001005360.2(DNM2):c.2443C>T (p.Pro815Ser) rs1438459794
NM_001005360.2(DNM2):c.2451C>T (p.Ser817=) rs751961437
NM_001005360.2(DNM2):c.2452G>A (p.Val818Met) rs755608537
NM_001005360.2(DNM2):c.2479G>A (p.Ala827Thr) rs1599641452
NM_001005360.2(DNM2):c.2497T>C (p.Ser833Pro) rs1253864930
NM_001005360.2(DNM2):c.2531C>T (p.Pro844Leu) rs1398139585
NM_001005360.2(DNM2):c.2544_2546delCAG
NM_001005360.2(DNM2):c.2576_2581del (p.Thr859_Ile860del) rs876661117
NM_001005360.2(DNM2):c.2607C>A (p.Leu869=) rs144472798
NM_001005360.2(DNM2):c.266A>G (p.Lys89Arg) rs1340636700
NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp) rs200408053
NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser) rs1014814501
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met) rs753176358
NM_001005360.2(DNM2):c.439G>A (p.Asp147Asn) rs370086632
NM_001005360.2(DNM2):c.481C>A (p.Leu161Met) rs1060503547
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln) rs200002469
NM_001005360.2(DNM2):c.535A>G (p.Met179Val) rs748887276
NM_001005360.2(DNM2):c.596G>A (p.Arg199Gln) rs1568294706
NM_001005360.2(DNM2):c.636G>T (p.Glu212Asp) rs542515194
NM_001005360.2(DNM2):c.637G>T (p.Gly213Cys) rs767908123
NM_001005360.2(DNM2):c.645C>A (p.Asp215Glu) rs148900299
NM_001005360.2(DNM2):c.655G>A (p.Val219Ile) rs111845811
NM_001005360.2(DNM2):c.689-3C>T rs373330742
NM_001005360.2(DNM2):c.695T>A (p.Ile232Asn) rs749672066
NM_001005360.2(DNM2):c.695T>C (p.Ile232Thr) rs749672066
NM_001005360.2(DNM2):c.699C>T (p.Gly233=) rs751844947
NM_001005360.2(DNM2):c.700G>C (p.Val234Leu) rs377159042
NM_001005360.2(DNM2):c.758C>T (p.Ala253Val) rs752195631
NM_001005360.2(DNM2):c.778C>G (p.Leu260Val) rs145607989
NM_001005360.2(DNM2):c.797G>A (p.Arg266Gln) rs754507545
NM_001005360.2(DNM2):c.800A>G (p.His267Arg) rs1412618988
NM_001005360.2(DNM2):c.811C>T (p.Arg271Cys) rs138128705
NM_001005360.2(DNM2):c.812G>A (p.Arg271His) rs781546006
NM_001005360.2(DNM2):c.819C>T (p.Gly273=) rs1464745378
NM_001005360.2(DNM2):c.821C>T (p.Thr274Met) rs746387165
NM_001005360.2(DNM2):c.83A>T (p.His28Leu) rs774962668
NM_001005360.2(DNM2):c.850-7C>G rs778548382
NM_001005360.2(DNM2):c.868C>G (p.Arg290Gly) rs587778235
NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp) rs587778235
NM_001005360.2(DNM2):c.889C>T (p.Arg297Cys) rs760254039
NM_001005360.2(DNM2):c.890G>A (p.Arg297His) rs763894364
NM_001005360.2(DNM2):c.8A>G (p.Asn3Ser) rs890297188
NM_001005360.2(DNM2):c.934G>A (p.Glu312Lys) rs370636702
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001005360.2(DNM2):c.992+4T>C rs1225723240
NM_001005361.3(DNM2):c.1012G>A (p.Val338Met)
NM_001005361.3(DNM2):c.1040C>T (p.Ser347Leu)
NM_001005361.3(DNM2):c.1090C>G (p.Arg364Gly)
NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)
NM_001005361.3(DNM2):c.1134G>C (p.Glu378Asp)
NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys)
NM_001005361.3(DNM2):c.1161G>T (p.Glu387Asp)
NM_001005361.3(DNM2):c.1196+626G>A
NM_001005361.3(DNM2):c.1196+640G>A
NM_001005361.3(DNM2):c.1196+707G>C
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp)
NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu)
NM_001005361.3(DNM2):c.1373G>A (p.Arg458Gln)
NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile)
NM_001005361.3(DNM2):c.1438G>A (p.Asp480Asn)
NM_001005361.3(DNM2):c.1493+5G>A
NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly)
NM_001005361.3(DNM2):c.1708C>T (p.Leu570Phe)
NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala)
NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup)
NM_001005361.3(DNM2):c.1782-7C>G
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe)
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met)
NM_001005361.3(DNM2):c.2106G>A (p.Ser702=)
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp)
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln)
NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn)
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val)
NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val)
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met) rs202136528
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser)
NM_001005361.3(DNM2):c.2249C>T (p.Pro750Leu)
NM_001005361.3(DNM2):c.2291+5G>A
NM_001005361.3(DNM2):c.2292-7C>G
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile)
NM_001005361.3(DNM2):c.2311C>A (p.Pro771Thr)
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln)
NM_001005361.3(DNM2):c.2338C>T (p.Arg780Trp)
NM_001005361.3(DNM2):c.2395G>A (p.Gly799Arg)
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
NM_001005361.3(DNM2):c.2417C>T (p.Ala806Val)
NM_001005361.3(DNM2):c.2437C>T (p.Pro813Ser)
NM_001005361.3(DNM2):c.2451C>G (p.Ser817Arg)
NM_001005361.3(DNM2):c.2543+5G>C
NM_001005361.3(DNM2):c.2544-3C>T
NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys)
NM_001005361.3(DNM2):c.2596C>T (p.Pro866Ser)
NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro)
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala)
NM_001005361.3(DNM2):c.414G>A (p.Pro138=)
NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser)
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp)
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser)
NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu)
NM_001005361.3(DNM2):c.591C>T (p.Gly197=)
NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp)
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser)
NM_001005361.3(DNM2):c.700G>A (p.Val234Met)
NM_001005361.3(DNM2):c.72C>T (p.Gly24=)
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys)
NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp)
NM_001005361.3(DNM2):c.806C>T (p.Ala269Val)
NM_001005361.3(DNM2):c.812G>T (p.Arg271Leu)
NM_001005361.3(DNM2):c.849+7C>T
NM_001005361.3(DNM2):c.857C>T (p.Thr286Ile)
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln) rs117398902
NM_001005361.3(DNM2):c.890G>T (p.Arg297Leu)
NM_001303256.3(MORC2):c.1000C>G (p.Gln334Glu)
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val) rs1602487890
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His) rs753651729
NM_001303256.3(MORC2):c.1078C>T (p.Leu360Phe) rs1268129848
NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs) rs1602486072
NM_001303256.3(MORC2):c.1118A>G (p.Asn373Ser) rs762901266
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.1213A>G (p.Met405Val)
NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val) rs1602485728
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr) rs1555938741
NM_001303256.3(MORC2):c.1224C>T (p.Gly408=) rs754338828
NM_001303256.3(MORC2):c.1226_1234GGGTTGTTG[3] (p.409_411GVV[3]) rs1555938722
NM_001303256.3(MORC2):c.1310G>A (p.Arg437Gln)
NM_001303256.3(MORC2):c.1340T>G (p.Leu447Arg)
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=) rs777612473
NM_001303256.3(MORC2):c.1369+5T>A
NM_001303256.3(MORC2):c.1370-3C>T rs770913783
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) rs1569192110
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp) rs897870181
NM_001303256.3(MORC2):c.1447C>G (p.Leu483Val) rs367704663
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys) rs1602485184
NM_001303256.3(MORC2):c.1468G>A (p.Ala490Thr) rs1569192031
NM_001303256.3(MORC2):c.1497C>T (p.Cys499=) rs1345120667
NM_001303256.3(MORC2):c.1532A>G (p.Gln511Arg)
NM_001303256.3(MORC2):c.1541C>G (p.Ser514Cys)
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser) rs1555938391
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr) rs749364295
NM_001303256.3(MORC2):c.158-5T>G
NM_001303256.3(MORC2):c.1603C>T (p.Arg535Trp)
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln) rs750003469
NM_001303256.3(MORC2):c.1605-3C>T rs111618347
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu) rs1338480863
NM_001303256.3(MORC2):c.1723C>A (p.Leu575Met)
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser) rs756912389
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val) rs760345377
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr) rs770774096
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys) rs548292999
NM_001303256.3(MORC2):c.1761A>G (p.Gln587=) rs778753246
NM_001303256.3(MORC2):c.176G>A (p.Arg59Gln)
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys) rs200774292
NM_001303256.3(MORC2):c.1812G>A (p.Glu604=) rs1214680334
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu) rs1602482166
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala) rs1555937777
NM_001303256.3(MORC2):c.1832A>G (p.Gln611Arg)
NM_001303256.3(MORC2):c.1859dup (p.Val621fs) rs1569190645
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu) rs748092969
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu) rs1602481898
NM_001303256.3(MORC2):c.1925G>A (p.Arg642Gln)
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly) rs200703581
NM_001303256.3(MORC2):c.1949C>T (p.Thr650Ile) rs371710965
NM_001303256.3(MORC2):c.1956G>C (p.Lys652Asn) rs763542037
NM_001303256.3(MORC2):c.1976G>A (p.Arg659Gln)
NM_001303256.3(MORC2):c.2009C>T (p.Pro670Leu)
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly) rs778099643
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln) rs563612262
NM_001303256.3(MORC2):c.2038A>G (p.Thr680Ala)
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln) rs201772330
NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val) rs560948457
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro) rs897158764
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys) rs201032497
NM_001303256.3(MORC2):c.2120G>A (p.Arg707Gln) rs768807060
NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser) rs780648306
NM_001303256.3(MORC2):c.2176C>G (p.Pro726Ala)
NM_001303256.3(MORC2):c.2179A>G (p.Ile727Val) rs1602481313
NM_001303256.3(MORC2):c.2192C>T (p.Pro731Leu) rs760522350
NM_001303256.3(MORC2):c.2203A>G (p.Ser735Gly)
NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly) rs1555942389
NM_001303256.3(MORC2):c.2228C>A (p.Ser743Tyr) rs142840638
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala) rs746418433
NM_001303256.3(MORC2):c.2247_2249GGA[1] (p.Glu751del) rs1247915167
NM_001303256.3(MORC2):c.2267A>C (p.Lys756Thr)
NM_001303256.3(MORC2):c.227-5T>C
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn) rs762809030
NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp) rs369384586
NM_001303256.3(MORC2):c.2282G>A (p.Arg761Gln) rs754626172
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp) rs751495570
NM_001303256.3(MORC2):c.2354C>T (p.Ser785Leu) rs551185965
NM_001303256.3(MORC2):c.2379A>T (p.Lys793Asn)
NM_001303256.3(MORC2):c.2380+6C>G rs1555936909
NM_001303256.3(MORC2):c.2381-3C>T rs1309634022
NM_001303256.3(MORC2):c.2395G>A (p.Val799Met)
NM_001303256.3(MORC2):c.239G>A (p.Ser80Asn)
NM_001303256.3(MORC2):c.2452G>A (p.Gly818Ser)
NM_001303256.3(MORC2):c.2464G>T (p.Val822Leu)
NM_001303256.3(MORC2):c.2468G>A (p.Arg823Gln)
NM_001303256.3(MORC2):c.2504C>T (p.Thr835Met)
NM_001303256.3(MORC2):c.2522+3A>G
NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn) rs150980372
NM_001303256.3(MORC2):c.2630C>T (p.Ala877Val) rs1602477856
NM_001303256.3(MORC2):c.2633A>T (p.Gln878Leu)
NM_001303256.3(MORC2):c.2634G>C (p.Gln878His) rs1388475410
NM_001303256.3(MORC2):c.2644G>A (p.Ala882Thr) rs372199572
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr) rs372297066
NM_001303256.3(MORC2):c.2677C>T (p.Arg893Cys)
NM_001303256.3(MORC2):c.2678G>A (p.Arg893His) rs202243108
NM_001303256.3(MORC2):c.2698G>T (p.Ala900Ser) rs1555936530
NM_001303256.3(MORC2):c.2711A>G (p.Asn904Ser) rs1042426757
NM_001303256.3(MORC2):c.2734G>T (p.Val912Phe) rs1569188333
NM_001303256.3(MORC2):c.2747+6T>C rs368417146
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly) rs768569356
NM_001303256.3(MORC2):c.2796G>T (p.Lys932Asn)
NM_001303256.3(MORC2):c.2880C>G (p.Asn960Lys)
NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser) rs781162787
NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp) rs1485425350
NM_001303256.3(MORC2):c.2941C>T (p.Arg981Cys)
NM_001303256.3(MORC2):c.2944A>G (p.Thr982Ala) rs771410096
NM_001303256.3(MORC2):c.2969C>T (p.Thr990Met) rs745339848
NM_001303256.3(MORC2):c.2974_2979del (p.Glu992_Lys993del)
NM_001303256.3(MORC2):c.3004G>A (p.Val1002Met)
NM_001303256.3(MORC2):c.3030+6C>G rs1388656367
NM_001303256.3(MORC2):c.347T>C (p.Ile116Thr)
NM_001303256.3(MORC2):c.355A>G (p.Thr119Ala) rs748216749
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu) rs1602496057
NM_001303256.3(MORC2):c.458G>A (p.Arg153Gln)
NM_001303256.3(MORC2):c.470C>G (p.Pro157Arg)
NM_001303256.3(MORC2):c.481A>C (p.Asn161His)
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu) rs1602491814
NM_001303256.3(MORC2):c.509A>G (p.Glu170Gly)
NM_001303256.3(MORC2):c.518A>C (p.Tyr173Ser)
NM_001303256.3(MORC2):c.536G>A (p.Arg179His) rs541114863
NM_001303256.3(MORC2):c.541G>A (p.Glu181Lys) rs750265510
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr) rs1555940315
NM_001303256.3(MORC2):c.585C>T (p.Ser195=)
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val) rs375266158
NM_001303256.3(MORC2):c.672G>T (p.Gln224His) rs893153652
NM_001303256.3(MORC2):c.683C>T (p.Thr228Met)
NM_001303256.3(MORC2):c.712C>T (p.Arg238Cys) rs371713427
NM_001303256.3(MORC2):c.713G>A (p.Arg238His) rs367766290
NM_001303256.3(MORC2):c.743A>G (p.Tyr248Cys) rs1355363942
NM_001303256.3(MORC2):c.776G>A (p.Gly259Glu) rs368260550
NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser) rs1064796495
NM_001303256.3(MORC2):c.800T>G (p.Leu267Arg) rs1555939986
NM_001303256.3(MORC2):c.815A>T (p.Tyr272Phe) rs987083509
NM_001303256.3(MORC2):c.828G>A (p.Met276Ile)
NM_001303256.3(MORC2):c.839C>T (p.Thr280Met) rs764379949
NM_001303256.3(MORC2):c.848G>A (p.Arg283His)
NM_001303256.3(MORC2):c.892G>C (p.Val298Leu) rs772766261
NM_001303256.3(MORC2):c.917C>T (p.Ala306Val)
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp) rs369654856
NM_001303256.3(MORC2):c.941G>A (p.Arg314Gln)
NM_001303256.3(MORC2):c.969C>A (p.Asp323Glu) rs199973357
NM_001303256.3(MORC2):c.976C>T (p.Arg326Trp) rs558057376
NM_001303256.3(MORC2):c.988-10A>G rs370880177
NM_001376.5(DYNC1H1):c.10070A>G (p.Glu3357Gly) rs1458996905
NM_001376.5(DYNC1H1):c.10103A>G (p.Lys3368Arg)
NM_001376.5(DYNC1H1):c.10213A>G (p.Met3405Val)
NM_001376.5(DYNC1H1):c.10262A>G (p.Asp3421Gly)
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn) rs766521055
NM_001376.5(DYNC1H1):c.10336C>T (p.Arg3446Cys) rs1407151844
NM_001376.5(DYNC1H1):c.1043C>T (p.Thr348Met) rs372041146
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322
NM_001376.5(DYNC1H1):c.10613A>G (p.Gln3538Arg)
NM_001376.5(DYNC1H1):c.10627-6T>C rs1555411461
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val) rs1595626695
NM_001376.5(DYNC1H1):c.10661C>T (p.Ser3554Phe) rs1567019533
NM_001376.5(DYNC1H1):c.10682G>A (p.Arg3561His) rs1064796932
NM_001376.5(DYNC1H1):c.10703C>T (p.Pro3568Leu) rs148203153
NM_001376.5(DYNC1H1):c.10743A>C (p.Lys3581Asn) rs768668529
NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp) rs1332342693
NM_001376.5(DYNC1H1):c.10751A>G (p.Asn3584Ser) rs774439464
NM_001376.5(DYNC1H1):c.10826T>C (p.Ile3609Thr)
NM_001376.5(DYNC1H1):c.10832G>A (p.Arg3611Gln) rs760957660
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile)
NM_001376.5(DYNC1H1):c.10887C>G (p.Phe3629Leu)
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala) rs761427653
NM_001376.5(DYNC1H1):c.10987A>G (p.Thr3663Ala)
NM_001376.5(DYNC1H1):c.10987A>T (p.Thr3663Ser)
NM_001376.5(DYNC1H1):c.11055+6G>A rs1595629239
NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val) rs771355909
NM_001376.5(DYNC1H1):c.11408C>G (p.Pro3803Arg)
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717
NM_001376.5(DYNC1H1):c.11520A>G (p.Leu3840=) rs369351359
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly) rs1239478672
NM_001376.5(DYNC1H1):c.11684C>T (p.Thr3895Ile)
NM_001376.5(DYNC1H1):c.11776G>C (p.Gly3926Arg) rs879254035
NM_001376.5(DYNC1H1):c.11785G>A (p.Val3929Met) rs867293260
NM_001376.5(DYNC1H1):c.11801C>T (p.Ala3934Val)
NM_001376.5(DYNC1H1):c.11806G>T (p.Val3936Leu)
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg) rs1595630600
NM_001376.5(DYNC1H1):c.11857G>A (p.Ala3953Thr)
NM_001376.5(DYNC1H1):c.11863G>A (p.Glu3955Lys) rs767837334
NM_001376.5(DYNC1H1):c.11866-4A>T
NM_001376.5(DYNC1H1):c.11906C>A (p.Thr3969Asn) rs770525695
NM_001376.5(DYNC1H1):c.1191C>T (p.Gly397=) rs750305144
NM_001376.5(DYNC1H1):c.11941+2T>A rs1595630836
NM_001376.5(DYNC1H1):c.12031A>G (p.Thr4011Ala)
NM_001376.5(DYNC1H1):c.12047C>G (p.Ser4016Cys) rs370026529
NM_001376.5(DYNC1H1):c.12089T>C (p.Ile4030Thr)
NM_001376.5(DYNC1H1):c.1208A>G (p.His403Arg) rs1451197374
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.5(DYNC1H1):c.12109_12110delinsTT (p.Pro4037Phe) rs1595631704
NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His) rs1271427633
NM_001376.5(DYNC1H1):c.12113A>G (p.Asn4038Ser) rs768853660
NM_001376.5(DYNC1H1):c.12146A>T (p.Tyr4049Phe)
NM_001376.5(DYNC1H1):c.12312G>T (p.Gly4104=) rs573819401
NM_001376.5(DYNC1H1):c.12412C>G (p.Leu4138Val)
NM_001376.5(DYNC1H1):c.12422C>T (p.Ala4141Val)
NM_001376.5(DYNC1H1):c.12423G>A (p.Ala4141=) rs757449756
NM_001376.5(DYNC1H1):c.12441C>G (p.Phe4147Leu)
NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile) rs754437318
NM_001376.5(DYNC1H1):c.12496G>A (p.Val4166Ile) rs202107738
NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr) rs879254018
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg) rs776972173
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup rs769593920
NM_001376.5(DYNC1H1):c.12749C>G (p.Ser4250Cys) rs1595633349
NM_001376.5(DYNC1H1):c.12756T>G (p.Tyr4252Ter)
NM_001376.5(DYNC1H1):c.12868G>A (p.Gly4290Arg)
NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu) rs1555412242
NM_001376.5(DYNC1H1):c.12950C>T (p.Thr4317Met) rs774296708
NM_001376.5(DYNC1H1):c.13001C>G (p.Thr4334Arg)
NM_001376.5(DYNC1H1):c.13006+4G>A rs1595633618
NM_001376.5(DYNC1H1):c.13024A>G (p.Lys4342Glu) rs747829220
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr) rs547205132
NM_001376.5(DYNC1H1):c.13076A>G (p.Glu4359Gly)
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_001376.5(DYNC1H1):c.13150G>A (p.Ala4384Thr) rs768797999
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) rs201575292
NM_001376.5(DYNC1H1):c.13165C>T (p.His4389Tyr) rs1567025279
NM_001376.5(DYNC1H1):c.13180A>G (p.Thr4394Ala) rs1555412552
NM_001376.5(DYNC1H1):c.13257G>C (p.Met4419Ile) rs1555412618
NM_001376.5(DYNC1H1):c.13282C>T (p.Arg4428Cys) rs770395590
NM_001376.5(DYNC1H1):c.13286A>G (p.Gln4429Arg) rs763724110
NM_001376.5(DYNC1H1):c.13295C>G (p.Ala4432Gly)
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn) rs749297332
NM_001376.5(DYNC1H1):c.13346G>A (p.Arg4449His)
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met) rs146087540
NM_001376.5(DYNC1H1):c.13359C>G (p.Asn4453Lys) rs140033479
NM_001376.5(DYNC1H1):c.13373-3C>G rs1567025991
NM_001376.5(DYNC1H1):c.13385G>A (p.Arg4462Gln) rs376608392
NM_001376.5(DYNC1H1):c.133G>C (p.Gly45Arg)
NM_001376.5(DYNC1H1):c.13404G>A (p.Thr4468=) rs17541692
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678
NM_001376.5(DYNC1H1):c.13441G>A (p.Asp4481Asn) rs1243385324
NM_001376.5(DYNC1H1):c.13474A>C (p.Ile4492Leu)
NM_001376.5(DYNC1H1):c.13515+3G>A
NM_001376.5(DYNC1H1):c.13516-10C>A rs1595637656
NM_001376.5(DYNC1H1):c.13640C>T (p.Thr4547Ile)
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr) rs145366078
NM_001376.5(DYNC1H1):c.13652C>T (p.Ala4551Val)
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=) rs192742245
NM_001376.5(DYNC1H1):c.13710_13712CAA[3] (p.Asn4573del) rs1013209915
NM_001376.5(DYNC1H1):c.13718A>G (p.Asn4573Ser) rs571005578
NM_001376.5(DYNC1H1):c.13719C>G (p.Asn4573Lys) rs886050377
NM_001376.5(DYNC1H1):c.13730T>C (p.Leu4577Pro)
NM_001376.5(DYNC1H1):c.13742T>C (p.Ile4581Thr)
NM_001376.5(DYNC1H1):c.13750G>A (p.Ala4584Thr) rs544608488
NM_001376.5(DYNC1H1):c.13757C>T (p.Pro4586Leu)
NM_001376.5(DYNC1H1):c.13771C>T (p.Arg4591Cys) rs765362140
NM_001376.5(DYNC1H1):c.13784A>G (p.Gln4595Arg)
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys) rs753454594
NM_001376.5(DYNC1H1):c.13798A>C (p.Lys4600Gln) rs1060502205
NM_001376.5(DYNC1H1):c.137G>T (p.Gly46Val) rs1566991081
NM_001376.5(DYNC1H1):c.13801_13802delinsGC (p.Lys4601Ala)
NM_001376.5(DYNC1H1):c.13803G>C (p.Lys4601Asn)
NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val) rs879254286
NM_001376.5(DYNC1H1):c.13863C>A (p.Thr4621=)
NM_001376.5(DYNC1H1):c.13866G>A (p.Val4622=) rs781130520
NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys) rs200149883
NM_001376.5(DYNC1H1):c.13882A>G (p.Thr4628Ala)
NM_001376.5(DYNC1H1):c.1390G>A (p.Asp464Asn) rs777919963
NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp) rs200224597
NM_001376.5(DYNC1H1):c.1442T>A (p.Val481Asp) rs776102509
NM_001376.5(DYNC1H1):c.1454G>A (p.Arg485Lys) rs879254275
NM_001376.5(DYNC1H1):c.1461+5G>A
NM_001376.5(DYNC1H1):c.1461+5G>T
NM_001376.5(DYNC1H1):c.1466C>T (p.Thr489Met) rs773725715
NM_001376.5(DYNC1H1):c.1467G>A (p.Thr489=) rs747710142
NM_001376.5(DYNC1H1):c.1477C>A (p.Gln493Lys) rs1298953581
NM_001376.5(DYNC1H1):c.1507C>G (p.Gln503Glu) rs1060502209
NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=) rs1057522046
NM_001376.5(DYNC1H1):c.1564G>A (p.Glu522Lys) rs1595600778
NM_001376.5(DYNC1H1):c.1588G>A (p.Val530Ile)
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met) rs780247153
NM_001376.5(DYNC1H1):c.1660G>A (p.Asp554Asn)
NM_001376.5(DYNC1H1):c.170A>G (p.Glu57Gly)
NM_001376.5(DYNC1H1):c.1774T>C (p.Phe592Leu)
NM_001376.5(DYNC1H1):c.1777G>T (p.Val593Phe)
NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met) rs760971556
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile) rs1383117534
NM_001376.5(DYNC1H1):c.1916G>A (p.Arg639His) rs1244748017
NM_001376.5(DYNC1H1):c.1942A>G (p.Ile648Val) rs775473086
NM_001376.5(DYNC1H1):c.2002G>A (p.Val668Ile)
NM_001376.5(DYNC1H1):c.2028C>G (p.His676Gln) rs758895614
NM_001376.5(DYNC1H1):c.2029G>A (p.Val677Met) rs563050462
NM_001376.5(DYNC1H1):c.2142G>A (p.Ser714=)
NM_001376.5(DYNC1H1):c.2147G>A (p.Arg716His) rs759802064
NM_001376.5(DYNC1H1):c.2182C>T (p.Arg728Ter) rs1595601098
NM_001376.5(DYNC1H1):c.2204T>C (p.Leu735Pro) rs1002689170
NM_001376.5(DYNC1H1):c.2278G>A (p.Val760Ile) rs781320162
NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val) rs1358924141
NM_001376.5(DYNC1H1):c.2294T>C (p.Val765Ala)
NM_001376.5(DYNC1H1):c.22G>A (p.Gly8Ser)
NM_001376.5(DYNC1H1):c.2353G>A (p.Val785Ile) rs766014166
NM_001376.5(DYNC1H1):c.2369G>A (p.Arg790Gln) rs371431746
NM_001376.5(DYNC1H1):c.2374T>G (p.Cys792Gly)
NM_001376.5(DYNC1H1):c.2393G>A (p.Arg798Gln) rs768932305
NM_001376.5(DYNC1H1):c.2412G>C (p.Leu804Phe)
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=) rs1595601645
NM_001376.5(DYNC1H1):c.265G>A (p.Gly89Ser) rs749973847
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189
NM_001376.5(DYNC1H1):c.2713A>G (p.Met905Val)
NM_001376.5(DYNC1H1):c.2768C>T (p.Thr923Met)
NM_001376.5(DYNC1H1):c.2820dup (p.Asp941fs) rs1595602265
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475
NM_001376.5(DYNC1H1):c.2875G>A (p.Val959Ile) rs140141126
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val) rs1595595758
NM_001376.5(DYNC1H1):c.2977G>A (p.Val993Ile) rs1332902634
NM_001376.5(DYNC1H1):c.3015+3A>G rs1057522534
NM_001376.5(DYNC1H1):c.3055T>A (p.Tyr1019Asn)
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp) rs777387819
NM_001376.5(DYNC1H1):c.3078G>A (p.Met1026Ile)
NM_001376.5(DYNC1H1):c.3079C>T (p.Pro1027Ser) rs1060502206
NM_001376.5(DYNC1H1):c.3084T>G (p.Asp1028Glu) rs775528195
NM_001376.5(DYNC1H1):c.3100G>A (p.Glu1034Lys)
NM_001376.5(DYNC1H1):c.3107C>T (p.Ser1036Leu)
NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu) rs867890249
NM_001376.5(DYNC1H1):c.3125G>A (p.Gly1042Asp)
NM_001376.5(DYNC1H1):c.3156+5G>A rs200905961
NM_001376.5(DYNC1H1):c.3218G>A (p.Gly1073Glu) rs775900761
NM_001376.5(DYNC1H1):c.3222A>C (p.Glu1074Asp)
NM_001376.5(DYNC1H1):c.3287C>T (p.Ala1096Val)
NM_001376.5(DYNC1H1):c.3325T>A (p.Tyr1109Asn)
NM_001376.5(DYNC1H1):c.3419C>T (p.Thr1140Met) rs587780331
NM_001376.5(DYNC1H1):c.3423A>C (p.Glu1141Asp)
NM_001376.5(DYNC1H1):c.345-3T>G rs1060502203
NM_001376.5(DYNC1H1):c.3571C>T (p.Arg1191Cys) rs774198261
NM_001376.5(DYNC1H1):c.3642C>A (p.Ile1214=) rs778273904
NM_001376.5(DYNC1H1):c.3704A>G (p.Gln1235Arg) rs867503066
NM_001376.5(DYNC1H1):c.370G>A (p.Val124Met) rs749548033
NM_001376.5(DYNC1H1):c.3742C>T (p.Arg1248Trp)
NM_001376.5(DYNC1H1):c.3766G>A (p.Asp1256Asn) rs760571415
NM_001376.5(DYNC1H1):c.3845T>C (p.Ile1282Thr)
NM_001376.5(DYNC1H1):c.3961-3C>T
NM_001376.5(DYNC1H1):c.3980A>G (p.Gln1327Arg) rs763711252
NM_001376.5(DYNC1H1):c.4049C>T (p.Pro1350Leu) rs1131691955
NM_001376.5(DYNC1H1):c.4089G>A (p.Leu1363=)
NM_001376.5(DYNC1H1):c.4133G>A (p.Arg1378Gln)
NM_001376.5(DYNC1H1):c.4173A>C (p.Lys1391Asn) rs1555409283
NM_001376.5(DYNC1H1):c.4193T>C (p.Met1398Thr) rs1567006255
NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn) rs776226690
NM_001376.5(DYNC1H1):c.4282G>A (p.Glu1428Lys)
NM_001376.5(DYNC1H1):c.4336G>A (p.Val1446Ile) rs367614843
NM_001376.5(DYNC1H1):c.4510G>A (p.Val1504Ile) rs761695197
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu) rs1327664377
NM_001376.5(DYNC1H1):c.4627C>T (p.Arg1543Trp)
NM_001376.5(DYNC1H1):c.4651T>C (p.Phe1551Leu) rs762246186
NM_001376.5(DYNC1H1):c.4709+6G>T rs1555409403
NM_001376.5(DYNC1H1):c.4759C>G (p.Leu1587Val)
NM_001376.5(DYNC1H1):c.4768G>C (p.Asp1590His)
NM_001376.5(DYNC1H1):c.4851A>C (p.Glu1617Asp) rs1060502204
NM_001376.5(DYNC1H1):c.4889A>G (p.Tyr1630Cys)
NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys) rs925942859
NM_001376.5(DYNC1H1):c.5009A>G (p.Asn1670Ser) rs758191823
NM_001376.5(DYNC1H1):c.503C>G (p.Ser168Cys) rs1321265961
NM_001376.5(DYNC1H1):c.5049+5A>G
NM_001376.5(DYNC1H1):c.5050-3C>T rs372462176
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile) rs781664182
NM_001376.5(DYNC1H1):c.5053A>G (p.Met1685Val) rs1555409556
NM_001376.5(DYNC1H1):c.5155G>A (p.Glu1719Lys) rs1555409562
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met) rs1555409563
NM_001376.5(DYNC1H1):c.5166G>A (p.Thr1722=) rs369232191
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val) rs138287354
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val) rs1595597551
NM_001376.5(DYNC1H1):c.5225T>C (p.Ile1742Thr) rs1555409568
NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met) rs199740595
NM_001376.5(DYNC1H1):c.5251G>T (p.Val1751Phe) rs1441272851
NM_001376.5(DYNC1H1):c.5282A>G (p.Asn1761Ser)
NM_001376.5(DYNC1H1):c.5284G>A (p.Val1762Met) rs780345145
NM_001376.5(DYNC1H1):c.5293G>A (p.Ala1765Thr) rs144147463
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853
NM_001376.5(DYNC1H1):c.5317G>A (p.Gly1773Arg)
NM_001376.5(DYNC1H1):c.5326G>A (p.Ala1776Thr) rs200722698
NM_001376.5(DYNC1H1):c.5405C>A (p.Pro1802Gln) rs1346194464
NM_001376.5(DYNC1H1):c.5433_5433+27dup rs1382359405
NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs) rs1555409622
NM_001376.5(DYNC1H1):c.5520C>A (p.Ser1840Arg)
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=) rs538791873
NM_001376.5(DYNC1H1):c.5659C>T (p.Arg1887Cys)
NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His) rs768520247
NM_001376.5(DYNC1H1):c.5800G>A (p.Glu1934Lys)
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.5(DYNC1H1):c.5971_5973del (p.Asp1991del)
NM_001376.5(DYNC1H1):c.598A>G (p.Ile200Val) rs1566996430
NM_001376.5(DYNC1H1):c.6028C>G (p.Pro2010Ala)
NM_001376.5(DYNC1H1):c.6044T>C (p.Phe2015Ser)
NM_001376.5(DYNC1H1):c.609G>A (p.Pro203=) rs138702876
NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val) rs1555407906
NM_001376.5(DYNC1H1):c.6353G>A (p.Arg2118Gln) rs1060502207
NM_001376.5(DYNC1H1):c.6355G>C (p.Gly2119Arg) rs1595614266
NM_001376.5(DYNC1H1):c.6405+4_6405+44del
NM_001376.5(DYNC1H1):c.6421G>A (p.Val2141Ile) rs765613848
NM_001376.5(DYNC1H1):c.6511C>T (p.His2171Tyr) rs1060502208
NM_001376.5(DYNC1H1):c.6539A>C (p.Glu2180Ala)
NM_001376.5(DYNC1H1):c.667C>T (p.Arg223Cys)
NM_001376.5(DYNC1H1):c.66G>C (p.Gln22His)
NM_001376.5(DYNC1H1):c.6703C>T (p.Arg2235Cys)
NM_001376.5(DYNC1H1):c.6763G>A (p.Asp2255Asn) rs376274132
NM_001376.5(DYNC1H1):c.684A>C (p.Lys228Asn)
NM_001376.5(DYNC1H1):c.6862A>G (p.Ile2288Val) rs1567010983
NM_001376.5(DYNC1H1):c.694T>C (p.Phe232Leu)
NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser) rs142335110
NM_001376.5(DYNC1H1):c.6997C>T (p.Leu2333Phe) rs1131691358
NM_001376.5(DYNC1H1):c.7014+3A>G rs1426193095
NM_001376.5(DYNC1H1):c.706G>A (p.Val236Ile) rs376456164
NM_001376.5(DYNC1H1):c.7078G>A (p.Gly2360Ser)
NM_001376.5(DYNC1H1):c.7116C>A (p.Asp2372Glu) rs377242217
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr) rs550161377
NM_001376.5(DYNC1H1):c.7148G>A (p.Arg2383His) rs1028991666
NM_001376.5(DYNC1H1):c.7161G>A (p.Leu2387=)
NM_001376.5(DYNC1H1):c.7189C>T (p.Arg2397Trp) rs1595616794
NM_001376.5(DYNC1H1):c.7190G>A (p.Arg2397Gln) rs751820545
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His) rs912429154
NM_001376.5(DYNC1H1):c.7193G>C (p.Arg2398Pro) rs912429154
NM_001376.5(DYNC1H1):c.7225G>A (p.Ala2409Thr)
NM_001376.5(DYNC1H1):c.7242+5G>A rs770870431
NM_001376.5(DYNC1H1):c.7297G>A (p.Val2433Ile)
NM_001376.5(DYNC1H1):c.7318G>A (p.Ala2440Thr)
NM_001376.5(DYNC1H1):c.7349C>T (p.Thr2450Ile) rs1595617173
NM_001376.5(DYNC1H1):c.7372C>T (p.Leu2458Phe) rs1161281176
NM_001376.5(DYNC1H1):c.73_74delinsAA (p.Ala25Lys) rs1595590120
NM_001376.5(DYNC1H1):c.7400G>A (p.Arg2467His) rs1441059709
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala) rs1018948570
NM_001376.5(DYNC1H1):c.7462C>T (p.Arg2488Cys) rs780160519
NM_001376.5(DYNC1H1):c.7475G>A (p.Arg2492Gln) rs1292509595
NM_001376.5(DYNC1H1):c.751C>G (p.Arg251Gly) rs879253979
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp) rs376901405
NM_001376.5(DYNC1H1):c.7543G>A (p.Gly2515Ser)
NM_001376.5(DYNC1H1):c.7549T>C (p.Tyr2517His) rs1567012503
NM_001376.5(DYNC1H1):c.7614+6C>T rs1567012532
NM_001376.5(DYNC1H1):c.7726C>T (p.Arg2576Cys)
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His) rs756288729
NM_001376.5(DYNC1H1):c.7732G>A (p.Glu2578Lys)
NM_001376.5(DYNC1H1):c.7829G>A (p.Arg2610Gln) rs1595617746
NM_001376.5(DYNC1H1):c.7849-7T>G
NM_001376.5(DYNC1H1):c.7937A>T (p.Asn2646Ile)
NM_001376.5(DYNC1H1):c.7940G>A (p.Gly2647Glu)
NM_001376.5(DYNC1H1):c.7951G>A (p.Ala2651Thr)
NM_001376.5(DYNC1H1):c.797C>T (p.Pro266Leu)
NM_001376.5(DYNC1H1):c.8068G>A (p.Gly2690Arg) rs1555410313
NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met) rs376679623
NM_001376.5(DYNC1H1):c.8217G>A (p.Pro2739=) rs138710201
NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr) rs773460120
NM_001376.5(DYNC1H1):c.8257C>T (p.Arg2753Cys)
NM_001376.5(DYNC1H1):c.8343+5G>A rs369653555
NM_001376.5(DYNC1H1):c.8344-4A>G rs200913985
NM_001376.5(DYNC1H1):c.8442G>C (p.Glu2814Asp) rs762494017
NM_001376.5(DYNC1H1):c.847C>T (p.Arg283Cys)
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His) rs1595597922
NM_001376.5(DYNC1H1):c.8507+3A>G
NM_001376.5(DYNC1H1):c.8519A>G (p.Asp2840Gly)
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val) rs774677904
NM_001376.5(DYNC1H1):c.8531G>A (p.Arg2844His)
NM_001376.5(DYNC1H1):c.8535G>T (p.Trp2845Cys)
NM_001376.5(DYNC1H1):c.8555C>T (p.Thr2852Met) rs575806819
NM_001376.5(DYNC1H1):c.8873T>C (p.Val2958Ala) rs1555410902
NM_001376.5(DYNC1H1):c.8886+4C>T rs1349379812
NM_001376.5(DYNC1H1):c.8930G>A (p.Arg2977Gln)
NM_001376.5(DYNC1H1):c.8977A>G (p.Ile2993Val) rs1187943520
NM_001376.5(DYNC1H1):c.9109G>T (p.Ala3037Ser) rs769817685
NM_001376.5(DYNC1H1):c.9139C>T (p.His3047Tyr) rs1555410940
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) rs773658296
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met) rs377668381
NM_001376.5(DYNC1H1):c.9216G>A (p.Ser3072=) rs752518392
NM_001376.5(DYNC1H1):c.9263+5G>A rs200144865
NM_001376.5(DYNC1H1):c.9264G>A (p.Arg3088=)
NM_001376.5(DYNC1H1):c.92A>G (p.Gln31Arg) rs1043956265
NM_001376.5(DYNC1H1):c.9335A>G (p.Lys3112Arg)
NM_001376.5(DYNC1H1):c.9401C>T (p.Pro3134Leu) rs905098104
NM_001376.5(DYNC1H1):c.940G>A (p.Val314Ile) rs747831868
NM_001376.5(DYNC1H1):c.9434A>G (p.Asn3145Ser)
NM_001376.5(DYNC1H1):c.9455A>G (p.Gln3152Arg) rs1053560376
NM_001376.5(DYNC1H1):c.9456G>C (p.Gln3152His)
NM_001376.5(DYNC1H1):c.9554A>C (p.Asn3185Thr) rs1311056505
NM_001376.5(DYNC1H1):c.9565G>A (p.Glu3189Lys) rs756550022
NM_001376.5(DYNC1H1):c.9577G>A (p.Glu3193Lys) rs1567017804
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met) rs1567017825
NM_001376.5(DYNC1H1):c.9642+4C>T
NM_001376.5(DYNC1H1):c.9691G>T (p.Val3231Leu) rs1567017900
NM_001376.5(DYNC1H1):c.9784G>C (p.Glu3262Gln) rs1567018077
NM_001376.5(DYNC1H1):c.9797A>T (p.Lys3266Met)
NM_001376.5(DYNC1H1):c.97C>T (p.His33Tyr) rs903873576
NM_001376.5(DYNC1H1):c.9883+3A>G
NM_001376.5(DYNC1H1):c.9944C>G (p.Ala3315Gly)
NM_001540.5(HSPB1):c.127T>C (p.Ser43Pro)
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser) rs778311776
NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile)
NM_001540.5(HSPB1):c.169C>T (p.Pro57Ser)
NM_001540.5(HSPB1):c.172del (p.Leu58fs)
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala) rs773864816
NM_001540.5(HSPB1):c.184G>C (p.Ala62Pro)
NM_001540.5(HSPB1):c.190G>A (p.Glu64Lys)
NM_001540.5(HSPB1):c.192G>C (p.Glu64Asp)
NM_001540.5(HSPB1):c.1A>C (p.Met1Leu)
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu) rs757158514
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg) rs1405359814
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe) rs1231796327
NM_001540.5(HSPB1):c.233_234delinsTT (p.Ser78Ile)
NM_001540.5(HSPB1):c.236G>A (p.Arg79Gln)
NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn) rs1563651975
NM_001540.5(HSPB1):c.250G>T (p.Gly84Trp)
NM_001540.5(HSPB1):c.251G>A (p.Gly84Glu)
NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu) rs749378020
NM_001540.5(HSPB1):c.264C>G (p.Ile88Met)
NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln) rs1060503022
NM_001540.5(HSPB1):c.280C>A (p.Arg94Ser)
NM_001540.5(HSPB1):c.281G>A (p.Arg94His)
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser) rs761660005
NM_001540.5(HSPB1):c.29T>A (p.Leu10His) rs772216758
NM_001540.5(HSPB1):c.305A>G (p.Asn102Ser)
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.340A>C (p.Lys114Gln)
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) rs780988351
NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn) rs755233365
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219
NM_001540.5(HSPB1):c.373_375GAG[1] (p.Glu126del) rs1554614633
NM_001540.5(HSPB1):c.379C>A (p.Arg127=)
NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser) rs1475184454
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln) rs587781250
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys) rs1583966042
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile)
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala) rs766728475
NM_001540.5(HSPB1):c.425A>G (p.Tyr142Cys)
NM_001540.5(HSPB1):c.428+5G>C
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys) rs748414486
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro) rs771232749
NM_001540.5(HSPB1):c.538A>C (p.Thr180Pro)
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser) rs1422978230
NM_001540.5(HSPB1):c.544C>A (p.Pro182Thr)
NM_001540.5(HSPB1):c.551C>T (p.Thr184Ile)
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.5(HSPB1):c.565G>A (p.Ala189Thr)
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306
NM_001540.5(HSPB1):c.598G>A (p.Asp200Asn)
NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del) rs1276065076
NM_001540.5(HSPB1):c.609dup (p.Ala204fs)
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser) rs367857772
NM_001540.5(HSPB1):c.615G>T (p.Lys205Asn)
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu) rs367662394
NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala)
NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys) rs1594431740
NM_002180.2(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259
NM_002180.2(IGHMBP2):c.1036A>G (p.Asn346Asp) rs567322475
NM_002180.2(IGHMBP2):c.1096G>A (p.Glu366Lys) rs759014082
NM_002180.2(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529
NM_002180.2(IGHMBP2):c.1108G>A (p.Asp370Asn) rs200007067
NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met) rs770912338
NM_002180.2(IGHMBP2):c.1120A>G (p.Ile374Val) rs374845226
NM_002180.2(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362
NM_002180.2(IGHMBP2):c.1148C>T (p.Ala383Val) rs876661217
NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686
NM_002180.2(IGHMBP2):c.1208A>G (p.Gln403Arg) rs1555246489
NM_002180.2(IGHMBP2):c.1241C>T (p.Ala414Val) rs1465465295
NM_002180.2(IGHMBP2):c.1263C>A (p.Ser421Arg) rs749343954
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541
NM_002180.2(IGHMBP2):c.1274G>A (p.Arg425His) rs769046350
NM_002180.2(IGHMBP2):c.1277T>G (p.Leu426Arg) rs1555247218
NM_002180.2(IGHMBP2):c.1279G>C (p.Ala427Pro) rs1594451196
NM_002180.2(IGHMBP2):c.128G>A (p.Arg43Gln) rs1021399630
NM_002180.2(IGHMBP2):c.1293C>T (p.Gly431=) rs377460631
NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354
NM_002180.2(IGHMBP2):c.1301T>G (p.Val434Gly) rs1464006744
NM_002180.2(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271
NM_002180.2(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973
NM_002180.2(IGHMBP2):c.1348C>T (p.Arg450Cys) rs374363750
NM_002180.2(IGHMBP2):c.1363A>C (p.Thr455Pro) rs775232759
NM_002180.2(IGHMBP2):c.1399G>A (p.Val467Met) rs755120725
NM_002180.2(IGHMBP2):c.1399G>C (p.Val467Leu) rs755120725
NM_002180.2(IGHMBP2):c.1418G>A (p.Arg473Lys) rs1594451539
NM_002180.2(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334
NM_002180.2(IGHMBP2):c.1451C>T (p.Thr484Met) rs1170552394
NM_002180.2(IGHMBP2):c.1489G>T (p.Gly497Trp) rs764111837
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.2(IGHMBP2):c.1546C>T (p.Arg516Cys) rs757425203
NM_002180.2(IGHMBP2):c.154G>C (p.Val52Leu) rs926718557
NM_002180.2(IGHMBP2):c.1552G>A (p.Val518Ile) rs373828321
NM_002180.2(IGHMBP2):c.1561C>T (p.His521Tyr) rs759965718
NM_002180.2(IGHMBP2):c.1562A>G (p.His521Arg) rs1555247556
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.1616C>T (p.Ser539Leu) rs879253887
NM_002180.2(IGHMBP2):c.1627C>G (p.Leu543Val) rs772592429
NM_002180.2(IGHMBP2):c.1632+4C>T rs775832239
NM_002180.2(IGHMBP2):c.1637A>C (p.Asp546Ala) rs1566445036
NM_002180.2(IGHMBP2):c.166C>A (p.Arg56Ser) rs201649839
NM_002180.2(IGHMBP2):c.166C>T (p.Arg56Cys) rs201649839
NM_002180.2(IGHMBP2):c.1684A>G (p.Lys562Glu) rs1566445093
NM_002180.2(IGHMBP2):c.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu) rs748775914
NM_002180.2(IGHMBP2):c.1736T>G (p.Phe579Cys) rs1566445212
NM_002180.2(IGHMBP2):c.1754A>G (p.Lys585Arg) rs146450269
NM_002180.2(IGHMBP2):c.1756+4C>T rs778913429
NM_002180.2(IGHMBP2):c.1766G>T (p.Gly589Val) rs764900781
NM_002180.2(IGHMBP2):c.1784G>A (p.Arg595Gln) rs143766075
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.2(IGHMBP2):c.1814G>A (p.Arg605Gln) rs141107419
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.2(IGHMBP2):c.181G>C (p.Gly61Arg) rs1057518943
NM_002180.2(IGHMBP2):c.1822G>A (p.Val608Met) rs573382473
NM_002180.2(IGHMBP2):c.1826C>A (p.Ala609Glu) rs776775995
NM_002180.2(IGHMBP2):c.1826C>T (p.Ala609Val) rs776775995
NM_002180.2(IGHMBP2):c.1833C>G (p.Ile611Met) rs752495359
NM_002180.2(IGHMBP2):c.1843C>T (p.Arg615Cys) rs1448152495
NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213
NM_002180.2(IGHMBP2):c.1888T>C (p.Phe630Leu) rs1264599893
NM_002180.2(IGHMBP2):c.1898A>G (p.His633Arg) rs1594455594
NM_002180.2(IGHMBP2):c.1913C>T (p.Thr638Met) rs747465472
NM_002180.2(IGHMBP2):c.1933G>A (p.Asp645Asn) rs775138577
NM_002180.2(IGHMBP2):c.1966T>C (p.Ser656Pro) rs755082503
NM_002180.2(IGHMBP2):c.1990A>C (p.Thr664Pro) rs1310268610
NM_002180.2(IGHMBP2):c.2012C>T (p.Thr671Met) rs377743886
NM_002180.2(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588
NM_002180.2(IGHMBP2):c.2035C>T (p.Arg679Trp) rs371157210
NM_002180.2(IGHMBP2):c.204G>T (p.Glu68Asp) rs1470672532
NM_002180.2(IGHMBP2):c.2090C>T (p.Pro697Leu) rs77807333
NM_002180.2(IGHMBP2):c.2097G>T (p.Gly699=) rs372382180
NM_002180.2(IGHMBP2):c.2129C>T (p.Pro710Leu) rs1594456094
NM_002180.2(IGHMBP2):c.2133C>G (p.Ser711Arg) rs879254320
NM_002180.2(IGHMBP2):c.2155G>A (p.Gly719Arg) rs1191974842
NM_002180.2(IGHMBP2):c.2175C>T (p.Gly725=) rs773046519
NM_002180.2(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510
NM_002180.2(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749
NM_002180.2(IGHMBP2):c.2194A>G (p.Met732Val) rs750717921
NM_002180.2(IGHMBP2):c.2205G>C (p.Glu735Asp) rs1594456265
NM_002180.2(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838
NM_002180.2(IGHMBP2):c.2295C>G (p.His765Gln) rs149185954
NM_002180.2(IGHMBP2):c.2317G>A (p.Gly773Arg) rs754559345
NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490
NM_002180.2(IGHMBP2):c.2386C>G (p.Pro796Ala) rs1438075631
NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806
NM_002180.2(IGHMBP2):c.2446G>C (p.Glu816Gln) rs950453484
NM_002180.2(IGHMBP2):c.2531C>T (p.Ala844Val) rs371546836
NM_002180.2(IGHMBP2):c.2550C>T (p.Ser850=) rs764637193
NM_002180.2(IGHMBP2):c.2554G>C (p.Glu852Gln) rs202143060
NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg) rs1300949116
NM_002180.2(IGHMBP2):c.257G>A (p.Gly86Asp) rs1594417834
NM_002180.2(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862
NM_002180.2(IGHMBP2):c.2649T>G (p.Phe883Leu) rs772539742
NM_002180.2(IGHMBP2):c.2668G>A (p.Ala890Thr) rs138607722
NM_002180.2(IGHMBP2):c.2671G>A (p.Val891Ile) rs199614709
NM_002180.2(IGHMBP2):c.2688C>G (p.Thr896=) rs1566448372
NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser) rs772387164
NM_002180.2(IGHMBP2):c.2752C>T (p.Arg918Cys) rs199962477
NM_002180.2(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364
NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.2(IGHMBP2):c.2771A>C (p.His924Pro) rs1566448570
NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn) rs200897747
NM_002180.2(IGHMBP2):c.2818G>A (p.Ala940Thr) rs757839224
NM_002180.2(IGHMBP2):c.2822G>A (p.Arg941Gln) rs373408947
NM_002180.2(IGHMBP2):c.2856C>A (p.Ala952=) rs759627672
NM_002180.2(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650
NM_002180.2(IGHMBP2):c.2863G>C (p.Gly955Arg) rs764208218
NM_002180.2(IGHMBP2):c.286A>G (p.Asn96Asp) rs760004229
NM_002180.2(IGHMBP2):c.2875G>A (p.Gly959Arg) rs199574747
NM_002180.2(IGHMBP2):c.2912G>A (p.Arg971Lys) rs1471799706
NM_002180.2(IGHMBP2):c.2959C>T (p.Arg987Trp) rs1440519538
NM_002180.2(IGHMBP2):c.2978C>T (p.Thr993Met) rs777591006
NM_002180.2(IGHMBP2):c.320C>G (p.Thr107Ser) rs767244307
NM_002180.2(IGHMBP2):c.322C>T (p.Arg108Trp) rs750026880
NM_002180.2(IGHMBP2):c.350C>T (p.Ala117Val) rs1034569953
NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428
NM_002180.2(IGHMBP2):c.393G>T (p.Glu131Asp) rs761440964
NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914
NM_002180.2(IGHMBP2):c.4G>T (p.Ala2Ser) rs778232785
NM_002180.2(IGHMBP2):c.532C>G (p.Pro178Ala) rs1566425176
NM_002180.2(IGHMBP2):c.547C>T (p.His183Tyr) rs548256623
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
NM_002180.2(IGHMBP2):c.641G>C (p.Gly214Ala) rs1566427330
NM_002180.2(IGHMBP2):c.64G>T (p.Asp22Tyr) rs771853806
NM_002180.2(IGHMBP2):c.659A>G (p.Lys220Arg) rs1555243301
NM_002180.2(IGHMBP2):c.678G>C (p.Glu226Asp) rs1594422735
NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.2(IGHMBP2):c.736A>G (p.Ile246Val) rs377678376
NM_002180.2(IGHMBP2):c.760C>T (p.Arg254Cys) rs1033094612
NM_002180.2(IGHMBP2):c.761G>A (p.Arg254His) rs761191746
NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551
NM_002180.2(IGHMBP2):c.791G>A (p.Arg264His) rs777575504
NM_002180.2(IGHMBP2):c.7T>G (p.Ser3Ala) rs751910797
NM_002180.2(IGHMBP2):c.815T>C (p.Leu272Pro) rs773582904
NM_002180.2(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985
NM_002180.2(IGHMBP2):c.832C>G (p.His278Asp) rs144681826
NM_002180.2(IGHMBP2):c.83G>A (p.Arg28His) rs892885630
NM_002180.2(IGHMBP2):c.856C>T (p.Arg286Trp) rs751421003
NM_002180.2(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598
NM_002180.2(IGHMBP2):c.862G>A (p.Asp288Asn) rs768803582
NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176
NM_002180.2(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469
NM_002180.2(IGHMBP2):c.928A>T (p.Thr310Ser) rs747287368
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser)
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr)
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser)
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu)
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp)
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met)
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His)
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His)
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His)
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn)
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe)
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg)
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg)
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala)
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr)
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe)
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His)
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu)
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile)
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val)
NM_002180.3(IGHMBP2):c.1756+5G>A
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala)
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser)
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr)
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser)
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln)
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val)
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys)
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg)
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met)
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln)
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val)
NM_002180.3(IGHMBP2):c.225G>A (p.Ala75=)
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys)
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn)
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile)
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser)
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro)
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) rs761789207
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser)
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu) rs200072932
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met)
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu)
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala)
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile)
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys)
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
NM_002180.3(IGHMBP2):c.2785-3C>G
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) rs1594459783
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr)
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp)
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser)
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser)
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg)
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val)
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr)
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met)
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr)
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His)
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala)
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met)
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr)
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr)
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met)
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp)
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly)
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg)
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe)
NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His)
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln)
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn)
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser)
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val)
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys)
NM_004637.5(RAB7A):c.167T>C (p.Leu56Pro) rs775104487
NM_004637.5(RAB7A):c.551A>G (p.Asn184Ser) rs752824265
NM_004637.5(RAB7A):c.568A>G (p.Ile190Val) rs147480945
NM_004637.5(RAB7A):c.577G>A (p.Asp193Asn) rs756968558
NM_004637.6(RAB7A):c.148G>A (p.Val50Met)
NM_004637.6(RAB7A):c.181-3C>T
NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg)
NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr)
NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser)
NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp)
NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln)
NM_004945.3(DNM2):c.1652_1659+1del rs1568314339
NM_004945.3(DNM2):c.2088_2090CTC[1] (p.Ser698del) rs1324559612
NM_004945.3(DNM2):c.2561_2563CCA[1] (p.Thr855del) rs1599643472
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys)
NM_004990.4(MARS1):c.1091+2dup rs754216322
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) rs141340466
NM_004990.4(MARS1):c.1181G>A (p.Arg394His) rs769544594
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg) rs751129809
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys) rs767132960
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala) rs780028144
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu) rs1395622723
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly) rs1408685568
NM_004990.4(MARS1):c.1535A>G (p.Asp512Gly)
NM_004990.4(MARS1):c.163A>G (p.Ser55Gly)
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261
NM_004990.4(MARS1):c.1732G>A (p.Val578Ile)
NM_004990.4(MARS1):c.1754-1G>C rs1594833474
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn) rs139600659
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) rs748955220
NM_004990.4(MARS1):c.1967+3A>G
NM_004990.4(MARS1):c.1968-8C>T rs1209991469
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly) rs1594835469
NM_004990.4(MARS1):c.2033A>G (p.Asp678Gly) rs1205620243
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile) rs558631075
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) rs148501787
NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln)
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser) rs770756933
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile) rs1594836361
NM_004990.4(MARS1):c.228G>T (p.Glu76Asp) rs369313141
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) rs559255944
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721
NM_004990.4(MARS1):c.244A>C (p.Asn82His) rs758051760
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro) rs200404964
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu) rs138343927
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val) rs773914259
NM_004990.4(MARS1):c.2556+1G>A
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs) rs1172463219
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg) rs779548081
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val) rs1027516483
NM_004990.4(MARS1):c.330G>T (p.Gly110=)
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) rs141397530
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn) rs201007223
NM_004990.4(MARS1):c.38T>C (p.Leu13Ser)
NM_004990.4(MARS1):c.415-5C>G
NM_004990.4(MARS1):c.550C>T (p.Arg184Ter) rs753083306
NM_004990.4(MARS1):c.616C>T (p.Pro206Ser) rs1565637642
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588
NM_004990.4(MARS1):c.652A>G (p.Asn218Asp)
NM_004990.4(MARS1):c.659del (p.Pro220fs)
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys) rs200334446
NM_004990.4(MARS1):c.692A>T (p.Glu231Val)
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly) rs778753999
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) rs146146070
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro) rs139033078
NM_004990.4(MARS1):c.823G>A (p.Val275Ile) rs1017657436
NM_004990.4(MARS1):c.853A>T (p.Ile285Phe) rs776026574
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs) rs1555166943
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser) rs11540809
NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer)
NM_004990.4(MARS1):c.986C>A (p.Pro329His)
NM_006158.4(NEFL):c.1016A>C (p.Lys339Thr) rs1586127945
NM_006158.4(NEFL):c.1032C>G (p.Ile344Met) rs1586127924
NM_006158.4(NEFL):c.1044+5G>C rs779620367
NM_006158.4(NEFL):c.1044G>A (p.Gln348=) rs1234285997
NM_006158.4(NEFL):c.1069G>A (p.Glu357Lys) rs1060503693
NM_006158.4(NEFL):c.1154A>T (p.Glu385Val) rs1563251398
NM_006158.4(NEFL):c.1175T>A (p.Leu392His) rs1554497393
NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe) rs879253927
NM_006158.4(NEFL):c.1185C>T (p.Gly395=) rs751512030
NM_006158.4(NEFL):c.1196G>A (p.Arg399Gln) rs372997416
NM_006158.4(NEFL):c.1213G>A (p.Val405Met) rs558941336
NM_006158.4(NEFL):c.1261C>A (p.Arg421=) rs191346286
NM_006158.4(NEFL):c.1292C>G (p.Ser431Cys) rs559215942
NM_006158.4(NEFL):c.1302G>A (p.Met434Ile) rs922905627
NM_006158.4(NEFL):c.1324_1326TAC[1] (p.Tyr443del) rs1554497354
NM_006158.4(NEFL):c.1333A>G (p.Ser445Gly) rs1563251190
NM_006158.4(NEFL):c.1340T>C (p.Val447Ala) rs1045761358
NM_006158.4(NEFL):c.1429G>A (p.Glu477Lys) rs749163947
NM_006158.4(NEFL):c.1438_1440delinsAGA (p.Glu480Arg) rs1586126391
NM_006158.4(NEFL):c.1462G>A (p.Glu488Lys) rs773570365
NM_006158.4(NEFL):c.1513G>A (p.Ala505Thr) rs1060503694
NM_006158.4(NEFL):c.1528G>A (p.Glu510Lys) rs749256770
NM_006158.4(NEFL):c.1534G>T (p.Gly512Cys) rs267601870
NM_006158.4(NEFL):c.1540G>C (p.Gly514Arg) rs1586126037
NM_006158.4(NEFL):c.217C>G (p.Leu73Val) rs755889503
NM_006158.4(NEFL):c.22C>A (p.Pro8Thr) rs886043551
NM_006158.4(NEFL):c.22C>T (p.Pro8Ser) rs886043551
NM_006158.4(NEFL):c.243C>A (p.Asn81Lys) rs761847300
NM_006158.4(NEFL):c.270G>C (p.Glu90Asp) rs767370918
NM_006158.4(NEFL):c.289C>A (p.Leu97Ile) rs587777888
NM_006158.4(NEFL):c.289C>T (p.Leu97Phe) rs587777888
NM_006158.4(NEFL):c.294T>G (p.Asn98Lys) rs1057517776
NM_006158.4(NEFL):c.415T>A (p.Tyr139Asn) rs868126991
NM_006158.4(NEFL):c.418G>A (p.Glu140Lys) rs121913663
NM_006158.4(NEFL):c.443T>A (p.Leu148Gln) rs1338365987
NM_006158.4(NEFL):c.490C>G (p.Arg164Gly) rs752771636
NM_006158.4(NEFL):c.530G>T (p.Arg177Leu) rs1450236716
NM_006158.4(NEFL):c.532T>A (p.Tyr178Asn) rs550216338
NM_006158.4(NEFL):c.579G>A (p.Met193Ile) rs367943135
NM_006158.4(NEFL):c.58G>A (p.Glu20Lys) rs779821785
NM_006158.4(NEFL):c.593G>C (p.Gly198Ala) rs1554497605
NM_006158.4(NEFL):c.598G>C (p.Asp200His) rs1312229375
NM_006158.4(NEFL):c.608C>T (p.Ala203Val) rs753319598
NM_006158.4(NEFL):c.637A>G (p.Ile213Val) rs538481538
NM_006158.4(NEFL):c.65C>A (p.Pro22His) rs267607538
NM_006158.4(NEFL):c.668T>C (p.Leu223Pro) rs1563251953
NM_006158.4(NEFL):c.677T>C (p.Val226Ala) rs1586128391
NM_006158.4(NEFL):c.67C>G (p.Arg23Gly) rs772092001
NM_006158.4(NEFL):c.688G>A (p.Glu230Lys) rs758201328
NM_006158.4(NEFL):c.716A>G (p.Gln239Arg) rs1170226456
NM_006158.4(NEFL):c.743A>C (p.Asp248Ala) rs927119938
NM_006158.4(NEFL):c.755C>T (p.Pro252Leu) rs373569840
NM_006158.4(NEFL):c.761T>C (p.Leu254Pro) rs1554497578
NM_006158.4(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.4(NEFL):c.797A>G (p.Glu266Gly) rs1367433683
NM_006158.4(NEFL):c.808G>T (p.Ala270Ser) rs749160052
NM_006158.4(NEFL):c.821A>G (p.Gln274Arg) rs756114856
NM_006158.4(NEFL):c.882C>A (p.Asn294Lys) rs946938553
NM_006158.4(NEFL):c.968G>C (p.Arg323Pro) rs864622499
NM_006158.4(NEFL):c.983C>A (p.Ala328Glu) rs768190580
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006158.4(NEFL):c.990_1013dup (p.Glu330_Glu337dup) rs1586127947
NM_006158.5(NEFL):c.1027G>A (p.Asp343Asn)
NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu)
NM_006158.5(NEFL):c.1049C>T (p.Thr350Met)
NM_006158.5(NEFL):c.1100G>A (p.Arg367Gln)
NM_006158.5(NEFL):c.1145T>C (p.Leu382Ser)
NM_006158.5(NEFL):c.1167C>T (p.Tyr389=)
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
NM_006158.5(NEFL):c.1325A>G (p.Tyr442Cys)
NM_006158.5(NEFL):c.1347G>C (p.Glu449Asp)
NM_006158.5(NEFL):c.1351C>G (p.Gln451Glu)
NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys)
NM_006158.5(NEFL):c.1459G>T (p.Glu487Ter)
NM_006158.5(NEFL):c.1489+6A>T
NM_006158.5(NEFL):c.1517AAG[4] (p.Glu510del)
NM_006158.5(NEFL):c.1532_1537dup (p.Gly511_Gly512dup)
NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile)
NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr)
NM_006158.5(NEFL):c.214G>T (p.Asp72Tyr)
NM_006158.5(NEFL):c.215A>C (p.Asp72Ala)
NM_006158.5(NEFL):c.269A>G (p.Glu90Gly)
NM_006158.5(NEFL):c.290T>C (p.Leu97Pro)
NM_006158.5(NEFL):c.290T>G (p.Leu97Arg)
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)
NM_006158.5(NEFL):c.44A>G (p.Lys15Arg)
NM_006158.5(NEFL):c.486C>T (p.Gly162=)
NM_006158.5(NEFL):c.493G>A (p.Glu165Lys)
NM_006158.5(NEFL):c.509C>T (p.Thr170Ile)
NM_006158.5(NEFL):c.614C>T (p.Ala205Val)
NM_006158.5(NEFL):c.619G>C (p.Ala207Pro)
NM_006158.5(NEFL):c.67C>T (p.Arg23Trp)
NM_006158.5(NEFL):c.712A>T (p.Ile238Phe)
NM_006158.5(NEFL):c.721G>A (p.Ala241Thr)
NM_006158.5(NEFL):c.845G>A (p.Ser282Asn)
NM_014365.2(HSPB8):c.116C>T (p.Pro39Leu) rs771827550
NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg) rs146900850
NM_014365.2(HSPB8):c.164G>A (p.Arg55His) rs752911264
NM_014365.2(HSPB8):c.194G>A (p.Arg65Lys) rs1265247622
NM_014365.2(HSPB8):c.200G>T (p.Gly67Val) rs771852827
NM_014365.2(HSPB8):c.201C>T (p.Gly67=) rs1565927038
NM_014365.2(HSPB8):c.208C>T (p.Pro70Ser) rs924785682
NM_014365.2(HSPB8):c.250G>A (p.Glu84Lys) rs757293016
NM_014365.2(HSPB8):c.266C>A (p.Pro89Gln) rs35909818
NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014365.2(HSPB8):c.266C>T (p.Pro89Leu) rs35909818
NM_014365.2(HSPB8):c.319C>T (p.Pro107Ser) rs146000958
NM_014365.2(HSPB8):c.421A>C (p.Lys141Gln) rs104894351
NM_014365.2(HSPB8):c.437C>G (p.Pro146Arg) rs1565930539
NM_014365.2(HSPB8):c.472C>T (p.Leu158Phe) rs144662422
NM_014365.2(HSPB8):c.502G>A (p.Ala168Thr) rs1592932884
NM_014365.2(HSPB8):c.512T>C (p.Val171Ala) rs878854979
NM_014365.2(HSPB8):c.523T>G (p.Ser175Ala) rs1000728639
NM_014365.2(HSPB8):c.536A>G (p.Glu179Gly) rs863224767
NM_014365.2(HSPB8):c.541A>T (p.Ser181Cys) rs760688825
NM_014365.2(HSPB8):c.570C>A (p.Ser190Arg) rs551013013
NM_014365.2(HSPB8):c.580A>T (p.Thr194Ser) rs771995241
NM_014365.2(HSPB8):c.584G>A (p.Cys195Tyr) rs778223243
NM_014365.2(HSPB8):c.65G>A (p.Arg22Gln) rs747381453
NM_014365.2(HSPB8):c.9C>G (p.Asp3Glu) rs952834680
NM_014365.3(HSPB8):c.10G>A (p.Gly4Ser)
NM_014365.3(HSPB8):c.114C>A (p.Asp38Glu)
NM_014365.3(HSPB8):c.127G>A (p.Asp43Asn)
NM_014365.3(HSPB8):c.137C>A (p.Ala46Asp)
NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys) rs1183371665
NM_014365.3(HSPB8):c.174C>A (p.Ser58=)
NM_014365.3(HSPB8):c.184_185del (p.Gly62fs)
NM_014365.3(HSPB8):c.211C>T (p.Arg71Trp)
NM_014365.3(HSPB8):c.229G>A (p.Ala77Thr)
NM_014365.3(HSPB8):c.241G>A (p.Val81Met)
NM_014365.3(HSPB8):c.266dup (p.Pro90fs) rs773017653
NM_014365.3(HSPB8):c.280G>A (p.Glu94Lys)
NM_014365.3(HSPB8):c.311G>A (p.Ser104Asn)
NM_014365.3(HSPB8):c.334del (p.Met111_Val112insTer)
NM_014365.3(HSPB8):c.43C>T (p.Arg15Cys)
NM_014365.3(HSPB8):c.47T>G (p.Leu16Arg)
NM_014365.3(HSPB8):c.515del (p.Pro172fs)
NM_014365.3(HSPB8):c.526A>G (p.Thr176Ala)
NM_014365.3(HSPB8):c.556C>T (p.Leu186Phe)
NM_014365.3(HSPB8):c.85C>A (p.Arg29Ser)
NM_014365.3(HSPB8):c.85C>T (p.Arg29Cys)
NM_015271.5(TRIM2):c.1028G>C (p.Gly343Ala)
NM_015271.5(TRIM2):c.1043C>G (p.Thr348Ser) rs752113810
NM_015271.5(TRIM2):c.1073C>T (p.Thr358Met) rs756377335
NM_015271.5(TRIM2):c.1083G>T (p.Gly361=) rs779795369
NM_015271.5(TRIM2):c.1087C>T (p.Arg363Trp) rs768541205
NM_015271.5(TRIM2):c.1093A>C (p.Thr365Pro)
NM_015271.5(TRIM2):c.1094C>G (p.Thr365Ser) rs146686472
NM_015271.5(TRIM2):c.1144G>T (p.Gly382Cys) rs760086023
NM_015271.5(TRIM2):c.1166A>G (p.Asn389Ser)
NM_015271.5(TRIM2):c.1180G>A (p.Ala394Thr)
NM_015271.5(TRIM2):c.121C>T (p.Arg41Cys)
NM_015271.5(TRIM2):c.1232A>G (p.Asn411Ser)
NM_015271.5(TRIM2):c.1243A>G (p.Thr415Ala)
NM_015271.5(TRIM2):c.1319G>A (p.Arg440Gln)
NM_015271.5(TRIM2):c.1330T>C (p.Phe444Leu) rs1579436975
NM_015271.5(TRIM2):c.1349G>A (p.Arg450Gln) rs777541972
NM_015271.5(TRIM2):c.1381G>C (p.Val461Leu) rs147859999
NM_015271.5(TRIM2):c.1411G>A (p.Gly471Ser)
NM_015271.5(TRIM2):c.1445C>G (p.Ala482Gly)
NM_015271.5(TRIM2):c.1451T>A (p.Met484Lys)
NM_015271.5(TRIM2):c.1615A>T (p.Ile539Leu)
NM_015271.5(TRIM2):c.1625A>G (p.Asn542Ser) rs374300347
NM_015271.5(TRIM2):c.1646G>A (p.Arg549His) rs1579646798
NM_015271.5(TRIM2):c.1664G>A (p.Arg555His) rs755651013
NM_015271.5(TRIM2):c.1670C>T (p.Pro557Leu)
NM_015271.5(TRIM2):c.1671G>A (p.Pro557=) rs150231451
NM_015271.5(TRIM2):c.1673G>A (p.Gly558Glu) rs1305793582
NM_015271.5(TRIM2):c.167G>A (p.Arg56Gln) rs1418080739
NM_015271.5(TRIM2):c.1746A>G (p.Lys582=)
NM_015271.5(TRIM2):c.1793G>T (p.Gly598Val) rs780090814
NM_015271.5(TRIM2):c.1834C>T (p.Arg612Cys)
NM_015271.5(TRIM2):c.1835G>A (p.Arg612His) rs114415780
NM_015271.5(TRIM2):c.1838A>G (p.Asn613Ser) rs1579720652
NM_015271.5(TRIM2):c.1846A>G (p.Ile616Val) rs1561013892
NM_015271.5(TRIM2):c.1876G>A (p.Val626Met) rs759524701
NM_015271.5(TRIM2):c.1964C>A (p.Ala655Glu) rs1554002777
NM_015271.5(TRIM2):c.1990A>G (p.Ile664Val) rs140853898
NM_015271.5(TRIM2):c.2049G>A (p.Met683Ile) rs1579783522
NM_015271.5(TRIM2):c.210C>T (p.Cys70=) rs750120043
NM_015271.5(TRIM2):c.2197A>G (p.Ile733Val) rs201921014
NM_015271.5(TRIM2):c.2215C>T (p.Pro739Ser) rs199912457
NM_015271.5(TRIM2):c.2220C>G (p.Leu740=) rs763024851
NM_015271.5(TRIM2):c.2265G>A (p.Val755=)
NM_015271.5(TRIM2):c.251C>T (p.Thr84Ile) rs745985238
NM_015271.5(TRIM2):c.305C>T (p.Ala102Val) rs1579254686
NM_015271.5(TRIM2):c.320A>G (p.Asn107Ser)
NM_015271.5(TRIM2):c.328A>G (p.Ile110Val) rs1435917917
NM_015271.5(TRIM2):c.346G>A (p.Val116Met) rs763365056
NM_015271.5(TRIM2):c.367A>T (p.Ser123Cys)
NM_015271.5(TRIM2):c.388A>G (p.Ile130Val)
NM_015271.5(TRIM2):c.415G>C (p.Ala139Pro)
NM_015271.5(TRIM2):c.417G>A (p.Ala139=)
NM_015271.5(TRIM2):c.461A>G (p.Glu154Gly)
NM_015271.5(TRIM2):c.485C>A (p.Thr162Asn) rs1579407719
NM_015271.5(TRIM2):c.497G>A (p.Arg166Gln) rs146252965
NM_015271.5(TRIM2):c.512G>C (p.Gly171Ala) rs1553992552
NM_015271.5(TRIM2):c.520G>A (p.Ala174Thr) rs200706275
NM_015271.5(TRIM2):c.520G>T (p.Ala174Ser)
NM_015271.5(TRIM2):c.541C>T (p.Leu181Phe) rs754986666
NM_015271.5(TRIM2):c.550G>A (p.Val184Met) rs1579408437
NM_015271.5(TRIM2):c.560A>G (p.Gln187Arg) rs1579408472
NM_015271.5(TRIM2):c.561G>T (p.Gln187His)
NM_015271.5(TRIM2):c.568G>A (p.Ala190Thr)
NM_015271.5(TRIM2):c.605+6G>A
NM_015271.5(TRIM2):c.653A>G (p.His218Arg)
NM_015271.5(TRIM2):c.659T>C (p.Leu220Ser) rs759938444
NM_015271.5(TRIM2):c.673G>T (p.Ala225Ser)
NM_015271.5(TRIM2):c.677G>A (p.Ser226Asn) rs143032564
NM_015271.5(TRIM2):c.688G>T (p.Asp230Tyr) rs1560963959
NM_015271.5(TRIM2):c.756A>C (p.Glu252Asp) rs138228404
NM_015271.5(TRIM2):c.822G>T (p.Gly274=)
NM_015271.5(TRIM2):c.830G>A (p.Ser277Asn)
NM_015271.5(TRIM2):c.914G>A (p.Ser305Asn) rs1579432032
NM_015271.5(TRIM2):c.916G>C (p.Glu306Gln) rs750001904
NM_015271.5(TRIM2):c.928G>A (p.Glu310Lys)
NM_015271.5(TRIM2):c.959C>T (p.Pro320Leu) rs1279083060
NM_021625.4(TRPV4):c.1006C>T (p.Arg336Cys) rs781229110
NM_021625.4(TRPV4):c.1039G>T (p.Asp347Tyr) rs1006063188
NM_021625.4(TRPV4):c.1076_1093del (p.Asp359_Ala364del) rs1592838554
NM_021625.4(TRPV4):c.1115C>T (p.Ser372Leu) rs1479394096
NM_021625.4(TRPV4):c.1139C>T (p.Thr380Met) rs764949536
NM_021625.4(TRPV4):c.114T>A (p.Asn38Lys) rs878853090
NM_021625.4(TRPV4):c.1175G>C (p.Arg392Pro) rs770364304
NM_021625.4(TRPV4):c.1198C>T (p.Arg400Trp) rs781711282
NM_021625.4(TRPV4):c.1199G>A (p.Arg400Gln) rs926925253
NM_021625.4(TRPV4):c.1211G>A (p.Arg404His) rs377257364
NM_021625.4(TRPV4):c.1277C>T (p.Thr426Met) rs757522459
NM_021625.4(TRPV4):c.1328T>C (p.Ile443Thr) rs1032807952
NM_021625.4(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.4(TRPV4):c.1342G>A (p.Glu448Lys) rs373103155
NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615
NM_021625.4(TRPV4):c.137C>T (p.Ser46Phe) rs202066574
NM_021625.4(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874
NM_021625.4(TRPV4):c.1392C>T (p.Arg464=) rs182609216
NM_021625.4(TRPV4):c.1439G>T (p.Cys480Phe) rs943346163
NM_021625.4(TRPV4):c.1445T>C (p.Met482Thr) rs1565866454
NM_021625.4(TRPV4):c.1450A>G (p.Ile484Val) rs1555206591
NM_021625.4(TRPV4):c.145C>A (p.Pro49Thr) rs546287338
NM_021625.4(TRPV4):c.1465G>A (p.Ala489Thr) rs758280554
NM_021625.4(TRPV4):c.1491+5G>A rs375360273
NM_021625.4(TRPV4):c.1493C>T (p.Pro498Leu) rs1051494811
NM_021625.4(TRPV4):c.1505A>T (p.Tyr502Phe) rs1592830087
NM_021625.4(TRPV4):c.1514C>T (p.Thr505Met) rs375574238
NM_021625.4(TRPV4):c.1522T>C (p.Tyr508His) rs1167973138
NM_021625.4(TRPV4):c.1528C>T (p.Arg510Trp) rs918220829
NM_021625.4(TRPV4):c.153G>A (p.Pro51=) rs577306678
NM_021625.4(TRPV4):c.1543G>T (p.Val515Phe) rs777901220
NM_021625.4(TRPV4):c.1577T>G (p.Phe526Cys) rs1329377960
NM_021625.4(TRPV4):c.1584C>T (p.Asn528=) rs142749412
NM_021625.4(TRPV4):c.159T>A (p.Asp53Glu) rs765021989
NM_021625.4(TRPV4):c.1627C>T (p.Leu543Phe) rs779325064
NM_021625.4(TRPV4):c.1658+5G>A rs756714651
NM_021625.4(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.4(TRPV4):c.1706C>G (p.Ala569Gly) rs1565864489
NM_021625.4(TRPV4):c.1729G>A (p.Val577Met) rs140535889
NM_021625.4(TRPV4):c.1796C>G (p.Thr599Arg) rs769225216
NM_021625.4(TRPV4):c.1825-8G>A rs1565864062
NM_021625.4(TRPV4):c.183C>T (p.Gly61=) rs773744592
NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) rs770149544
NM_021625.4(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422
NM_021625.4(TRPV4):c.1957A>C (p.Thr653Pro) rs769927678
NM_021625.4(TRPV4):c.1957A>G (p.Thr653Ala) rs769927678
NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512
NM_021625.4(TRPV4):c.1981C>T (p.Arg661Cys) rs772074281
NM_021625.4(TRPV4):c.1989C>G (p.Ser663Arg) rs778560334
NM_021625.4(TRPV4):c.202C>T (p.Arg68Cys) rs199624080
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) rs200199102
NM_021625.4(TRPV4):c.2077G>A (p.Val693Met) rs761952727
NM_021625.4(TRPV4):c.2162C>G (p.Thr721Arg) rs1423138633
NM_021625.4(TRPV4):c.2211G>C (p.Trp737Cys) rs1035249096
NM_021625.4(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_021625.4(TRPV4):c.2290G>T (p.Val764Leu) rs750416252
NM_021625.4(TRPV4):c.229A>G (p.Lys77Glu) rs1565883324
NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168
NM_021625.4(TRPV4):c.2432C>T (p.Ser811Leu) rs756076344
NM_021625.4(TRPV4):c.2440G>T (p.Val814Leu) rs202075458
NM_021625.4(TRPV4):c.2447G>A (p.Arg816His) rs1431224527
NM_021625.4(TRPV4):c.2452C>T (p.Arg818Cys) rs776544875
NM_021625.4(TRPV4):c.2456G>A (p.Arg819Lys) rs1565857540
NM_021625.4(TRPV4):c.2482C>A (p.Arg828Ser) rs1467984181
NM_021625.4(TRPV4):c.2489T>C (p.Val830Ala) rs1565856891
NM_021625.4(TRPV4):c.2495T>G (p.Leu832Arg) rs1565856842
NM_021625.4(TRPV4):c.2499C>A (p.Asn833Lys) rs147045782
NM_021625.4(TRPV4):c.2513C>T (p.Pro838Leu) rs140602150
NM_021625.4(TRPV4):c.2521G>A (p.Val841Met) rs1592812166
NM_021625.4(TRPV4):c.2560G>C (p.Asp854His) rs368963822
NM_021625.4(TRPV4):c.2570A>G (p.Gln857Arg) rs1262126429
NM_021625.4(TRPV4):c.2584del (p.Arg862fs) rs746597270
NM_021625.4(TRPV4):c.25C>T (p.Arg9Cys) rs758741868
NM_021625.4(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764
NM_021625.4(TRPV4):c.26G>A (p.Arg9His) rs776163103
NM_021625.4(TRPV4):c.281C>T (p.Ser94Leu) rs201927283
NM_021625.4(TRPV4):c.331G>A (p.Gly111Ser) rs768721947
NM_021625.4(TRPV4):c.345C>G (p.His115Gln) rs1420465373
NM_021625.4(TRPV4):c.34C>T (p.Pro12Ser) rs1416476726
NM_021625.4(TRPV4):c.37G>A (p.Gly13Arg) rs763302555
NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) rs763302555
NM_021625.4(TRPV4):c.395C>T (p.Pro132Leu) rs779371027
NM_021625.4(TRPV4):c.472G>A (p.Val158Met) rs746905653
NM_021625.4(TRPV4):c.479G>A (p.Arg160Gln) rs139300843
NM_021625.4(TRPV4):c.50A>G (p.Glu17Gly) rs989621170
NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) rs146304351
NM_021625.4(TRPV4):c.556C>T (p.Arg186Ter) rs773622769
NM_021625.4(TRPV4):c.593C>G (p.Ala198Gly) rs775317084
NM_021625.4(TRPV4):c.602A>G (p.Asn201Ser) rs1555208698
NM_021625.4(TRPV4):c.616C>T (p.Arg206Cys) rs200497189
NM_021625.4(TRPV4):c.622G>A (p.Asp208Asn) rs769445973
NM_021625.4(TRPV4):c.646A>G (p.Ile216Val) rs1318320106
NM_021625.4(TRPV4):c.649G>A (p.Ala217Thr) rs187864727
NM_021625.4(TRPV4):c.650C>T (p.Ala217Val) rs548909101
NM_021625.4(TRPV4):c.651G>A (p.Ala217=) rs371280831
NM_021625.4(TRPV4):c.655C>T (p.Arg219Cys) rs754023659
NM_021625.4(TRPV4):c.656G>A (p.Arg219His) rs767331924
NM_021625.4(TRPV4):c.661G>A (p.Gly221Ser) rs373539744
NM_021625.4(TRPV4):c.670_671delinsCA (p.Arg224Gln) rs1555208643
NM_021625.4(TRPV4):c.686C>T (p.Ser229Leu) rs373980330
NM_021625.4(TRPV4):c.701T>C (p.Ile234Thr) rs1555208627
NM_021625.4(TRPV4):c.704A>G (p.Tyr235Cys) rs754848195
NM_021625.4(TRPV4):c.709C>T (p.Arg237Ter) rs746368269
NM_021625.4(TRPV4):c.711A>G (p.Arg237=) rs927188562
NM_021625.4(TRPV4):c.712+5G>A rs372251308
NM_021625.4(TRPV4):c.737T>C (p.Ile246Thr) rs1200887655
NM_021625.4(TRPV4):c.746G>A (p.Arg249His) rs771294425
NM_021625.4(TRPV4):c.805C>A (p.Arg269Ser) rs267607146
NM_021625.4(TRPV4):c.820C>T (p.Gln274Ter) rs1592842140
NM_021625.4(TRPV4):c.827A>C (p.Lys276Thr) rs1592842115
NM_021625.4(TRPV4):c.834G>T (p.Glu278Asp) rs529115496
NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023
NM_021625.4(TRPV4):c.855G>T (p.Gly285=) rs879253959
NM_021625.4(TRPV4):c.877G>A (p.Ala293Thr) rs1054889070
NM_021625.4(TRPV4):c.915G>A (p.Thr305=) rs1565870990
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val) rs751139506
NM_021625.4(TRPV4):c.940A>G (p.Met314Val) rs151101009
NM_021625.4(TRPV4):c.944G>A (p.Arg315Gln) rs1064795696
NM_021625.4(TRPV4):c.956C>T (p.Ser319Leu) rs377518118
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_021625.5(TRPV4):c.1084C>A (p.Leu362Met)
NM_021625.5(TRPV4):c.1087_1088delinsTT (p.Glu363Leu)
NM_021625.5(TRPV4):c.1108G>A (p.Gly370Ser)
NM_021625.5(TRPV4):c.1162C>T (p.His388Tyr)
NM_021625.5(TRPV4):c.124G>T (p.Gly42Trp)
NM_021625.5(TRPV4):c.1265C>A (p.Ser422Tyr)
NM_021625.5(TRPV4):c.1283G>A (p.Gly428Glu)
NM_021625.5(TRPV4):c.1309C>G (p.Leu437Val)
NM_021625.5(TRPV4):c.1496C>T (p.Pro499Leu)
NM_021625.5(TRPV4):c.1510A>G (p.Thr504Ala)
NM_021625.5(TRPV4):c.1570TTC[2] (p.Phe526del)
NM_021625.5(TRPV4):c.1584+1G>C
NM_021625.5(TRPV4):c.166C>T (p.Arg56Cys)
NM_021625.5(TRPV4):c.167G>T (p.Arg56Leu)
NM_021625.5(TRPV4):c.1867del (p.Leu623fs)
NM_021625.5(TRPV4):c.1924A>T (p.Met642Leu)
NM_021625.5(TRPV4):c.1987A>G (p.Ser663Gly)
NM_021625.5(TRPV4):c.2013G>A (p.Leu671=)
NM_021625.5(TRPV4):c.203G>A (p.Arg68His)
NM_021625.5(TRPV4):c.2044G>A (p.Asp682Asn)
NM_021625.5(TRPV4):c.209A>T (p.Lys70Met)
NM_021625.5(TRPV4):c.2117C>A (p.Thr706Asn)
NM_021625.5(TRPV4):c.214C>T (p.Gln72Ter)
NM_021625.5(TRPV4):c.2167G>A (p.Gly723Ser)
NM_021625.5(TRPV4):c.2251T>C (p.Phe751Leu)
NM_021625.5(TRPV4):c.2264C>T (p.Ala755Val)
NM_021625.5(TRPV4):c.226C>T (p.Arg76Cys)
NM_021625.5(TRPV4):c.227G>T (p.Arg76Leu)
NM_021625.5(TRPV4):c.2378G>A (p.Gly793Asp)
NM_021625.5(TRPV4):c.2446C>T (p.Arg816Cys)
NM_021625.5(TRPV4):c.2459A>G (p.Asp820Gly)
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)
NM_021625.5(TRPV4):c.2555G>A (p.Arg852His)
NM_021625.5(TRPV4):c.2609C>T (p.Pro870Leu)
NM_021625.5(TRPV4):c.283G>A (p.Val95Met)
NM_021625.5(TRPV4):c.341G>A (p.Arg114His)
NM_021625.5(TRPV4):c.37G>C (p.Gly13Arg)
NM_021625.5(TRPV4):c.442G>A (p.Val148Ile)
NM_021625.5(TRPV4):c.449A>T (p.Asn150Ile)
NM_021625.5(TRPV4):c.535C>T (p.Arg179Cys)
NM_021625.5(TRPV4):c.69T>G (p.Ser23Arg)
NM_021625.5(TRPV4):c.713-7C>G
NM_021625.5(TRPV4):c.733G>A (p.Ala245Thr)
NM_021625.5(TRPV4):c.745C>T (p.Arg249Cys)
NM_021625.5(TRPV4):c.922C>T (p.Pro308Ser)
NM_021625.5(TRPV4):c.978T>A (p.His326Gln)
NM_138361.5(LRSAM1):c.1013G>A (p.Arg338Gln) rs762000052
NM_138361.5(LRSAM1):c.1035C>G (p.Asp345Glu) rs766701971
NM_138361.5(LRSAM1):c.1037A>G (p.Asn346Ser) rs1188237904
NM_138361.5(LRSAM1):c.103G>A (p.Asp35Asn) rs551183702
NM_138361.5(LRSAM1):c.1043+5G>A rs780868977
NM_138361.5(LRSAM1):c.1046A>G (p.Gln349Arg) rs200595164
NM_138361.5(LRSAM1):c.1060G>A (p.Glu354Lys) rs773122117
NM_138361.5(LRSAM1):c.1067T>C (p.Leu356Ser) rs142958539
NM_138361.5(LRSAM1):c.1076T>G (p.Leu359Arg) rs1466479388
NM_138361.5(LRSAM1):c.1088+1G>C rs765641195
NM_138361.5(LRSAM1):c.1091T>C (p.Ile364Thr) rs1588123900
NM_138361.5(LRSAM1):c.1102C>G (p.Gln368Glu) rs776814240
NM_138361.5(LRSAM1):c.1109T>C (p.Met370Thr) rs377079293
NM_138361.5(LRSAM1):c.1142G>A (p.Arg381Gln) rs145877456
NM_138361.5(LRSAM1):c.1145G>A (p.Arg382Gln) rs369596799
NM_138361.5(LRSAM1):c.1147C>T (p.Arg383Cys)
NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877
NM_138361.5(LRSAM1):c.1160C>A (p.Ser387Tyr) rs758094270
NM_138361.5(LRSAM1):c.1162G>A (p.Ala388Thr) rs138715791
NM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223
NM_138361.5(LRSAM1):c.122T>C (p.Leu41Pro) rs762731732
NM_138361.5(LRSAM1):c.1236C>A (p.Asn412Lys) rs186139632
NM_138361.5(LRSAM1):c.1264G>T (p.Ala422Ser) rs372452916
NM_138361.5(LRSAM1):c.1270A>G (p.Met424Val)
NM_138361.5(LRSAM1):c.1332C>A (p.Ser444Arg)
NM_138361.5(LRSAM1):c.1347+3G>T
NM_138361.5(LRSAM1):c.1347+6C>T rs1588128875
NM_138361.5(LRSAM1):c.1348-6T>A
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr)
NM_138361.5(LRSAM1):c.1352C>T (p.Ala451Val) rs751593173
NM_138361.5(LRSAM1):c.1367C>T (p.Ala456Val) rs1299851938
NM_138361.5(LRSAM1):c.13T>C (p.Phe5Leu) rs201473713
NM_138361.5(LRSAM1):c.1405C>T (p.Arg469Trp)
NM_138361.5(LRSAM1):c.1422+6C>T rs745690669
NM_138361.5(LRSAM1):c.1430T>C (p.Leu477Ser)
NM_138361.5(LRSAM1):c.1498C>T (p.Leu500Phe) rs749192098
NM_138361.5(LRSAM1):c.1504-5C>G rs377190920
NM_138361.5(LRSAM1):c.1510A>T (p.Ile504Phe) rs1472578658
NM_138361.5(LRSAM1):c.1522C>T (p.Arg508Cys)
NM_138361.5(LRSAM1):c.1537T>C (p.Ser513Pro) rs748161826
NM_138361.5(LRSAM1):c.1541T>A (p.Leu514Gln)
NM_138361.5(LRSAM1):c.1544T>A (p.Leu515His)
NM_138361.5(LRSAM1):c.1588C>T (p.Arg530Trp) rs772793971
NM_138361.5(LRSAM1):c.1589G>A (p.Arg530Gln) rs760321710
NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662
NM_138361.5(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185
NM_138361.5(LRSAM1):c.1698A>G (p.Gln566=)
NM_138361.5(LRSAM1):c.16C>T (p.Arg6Trp)
NM_138361.5(LRSAM1):c.1714C>T (p.Arg572Cys)
NM_138361.5(LRSAM1):c.1715G>A (p.Arg572His)
NM_138361.5(LRSAM1):c.1717C>A (p.Gln573Lys) rs150882646
NM_138361.5(LRSAM1):c.1730T>C (p.Leu577Pro)
NM_138361.5(LRSAM1):c.173A>G (p.Lys58Arg)
NM_138361.5(LRSAM1):c.1747G>A (p.Ala583Thr) rs1202628332
NM_138361.5(LRSAM1):c.1757A>G (p.Tyr586Cys)
NM_138361.5(LRSAM1):c.176T>C (p.Val59Ala)
NM_138361.5(LRSAM1):c.1773_1774delinsAA (p.His592Asn)
NM_138361.5(LRSAM1):c.1780C>T (p.Arg594Cys) rs150062009
NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) rs537838691
NM_138361.5(LRSAM1):c.17G>A (p.Arg6Gln) rs778740625
NM_138361.5(LRSAM1):c.1802G>C (p.Ser601Thr) rs201137230
NM_138361.5(LRSAM1):c.1806A>T (p.Gln602His) rs1462342285
NM_138361.5(LRSAM1):c.1819G>T (p.Asp607Tyr)
NM_138361.5(LRSAM1):c.1831G>A (p.Val611Met)
NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085
NM_138361.5(LRSAM1):c.1849G>T (p.Gly617Cys)
NM_138361.5(LRSAM1):c.184G>A (p.Val62Ile) rs570688892
NM_138361.5(LRSAM1):c.1870C>G (p.Arg624Gly) rs375938990
NM_138361.5(LRSAM1):c.1870C>T (p.Arg624Trp)
NM_138361.5(LRSAM1):c.1871G>A (p.Arg624Gln)
NM_138361.5(LRSAM1):c.1877T>G (p.Val626Gly) rs574202204
NM_138361.5(LRSAM1):c.1892A>G (p.Asp631Gly) rs1564283787
NM_138361.5(LRSAM1):c.1905C>G (p.Ile635Met) rs369161790
NM_138361.5(LRSAM1):c.1912+4_1912+5delinsTC
NM_138361.5(LRSAM1):c.1921C>T (p.Pro641Ser) rs1479286608
NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_138361.5(LRSAM1):c.1936G>A (p.Val646Ile) rs748358043
NM_138361.5(LRSAM1):c.1939G>A (p.Val647Ile) rs879254326
NM_138361.5(LRSAM1):c.1949C>T (p.Thr650Met)
NM_138361.5(LRSAM1):c.1952C>T (p.Ala651Val) rs777233045
NM_138361.5(LRSAM1):c.1963C>T (p.Pro655Ser) rs1291622809
NM_138361.5(LRSAM1):c.1993C>G (p.Pro665Ala)
NM_138361.5(LRSAM1):c.2009T>C (p.Val670Ala)
NM_138361.5(LRSAM1):c.2029_2046+7del
NM_138361.5(LRSAM1):c.2036T>C (p.Leu679Pro) rs1564286814
NM_138361.5(LRSAM1):c.2041C>T (p.Arg681Trp) rs773899723
NM_138361.5(LRSAM1):c.2042G>A (p.Arg681Gln) rs143479340
NM_138361.5(LRSAM1):c.2042G>C (p.Arg681Pro) rs143479340
NM_138361.5(LRSAM1):c.2043_2044dup (p.Glu682fs) rs1554762671
NM_138361.5(LRSAM1):c.2046G>A (p.Glu682=)
NM_138361.5(LRSAM1):c.2047-1G>A rs1564287793
NM_138361.5(LRSAM1):c.206C>G (p.Ser69Cys) rs942116544
NM_138361.5(LRSAM1):c.2076C>A (p.His692Gln) rs753650841
NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr) rs1588144651
NM_138361.5(LRSAM1):c.2095T>C (p.Cys699Arg) rs1341295542
NM_138361.5(LRSAM1):c.2108T>C (p.Leu703Pro) rs1588144691
NM_138361.5(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897
NM_138361.5(LRSAM1):c.2119C>T (p.Pro707Ser) rs1588144707
NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_138361.5(LRSAM1):c.2146C>T (p.Arg716Cys) rs772786050
NM_138361.5(LRSAM1):c.2152C>T (p.Arg718Cys) rs368202093
NM_138361.5(LRSAM1):c.2153G>A (p.Arg718His) rs764890552
NM_138361.5(LRSAM1):c.2161_2163del (p.His721del)
NM_138361.5(LRSAM1):c.21_41dup (p.Pro10_Lys16dup)
NM_138361.5(LRSAM1):c.252+1G>A rs1554753670
NM_138361.5(LRSAM1):c.253G>A (p.Val85Ile)
NM_138361.5(LRSAM1):c.259G>T (p.Asp87Tyr)
NM_138361.5(LRSAM1):c.274C>A (p.Gln92Lys)
NM_138361.5(LRSAM1):c.300G>A (p.Leu100=) rs758812956
NM_138361.5(LRSAM1):c.368T>C (p.Ile123Thr)
NM_138361.5(LRSAM1):c.375C>A (p.Asn125Lys) rs779873656
NM_138361.5(LRSAM1):c.382C>A (p.Gln128Lys) rs1168470052
NM_138361.5(LRSAM1):c.388C>T (p.Gln130Ter) rs1554754342
NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137
NM_138361.5(LRSAM1):c.436G>C (p.Val146Leu) rs555377969
NM_138361.5(LRSAM1):c.44G>A (p.Arg15Gln) rs368646898
NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) rs368689811
NM_138361.5(LRSAM1):c.497C>T (p.Pro166Leu) rs142085060
NM_138361.5(LRSAM1):c.528G>A (p.Glu176=) rs1564255509
NM_138361.5(LRSAM1):c.563C>T (p.Pro188Leu) rs138830549
NM_138361.5(LRSAM1):c.568C>T (p.Arg190Trp)
NM_138361.5(LRSAM1):c.580G>A (p.Gly194Ser) rs1193320677
NM_138361.5(LRSAM1):c.593C>A (p.Ala198Glu) rs758867006
NM_138361.5(LRSAM1):c.593C>T (p.Ala198Val) rs758867006
NM_138361.5(LRSAM1):c.598A>G (p.Ile200Val)
NM_138361.5(LRSAM1):c.5C>T (p.Pro2Leu)
NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685
NM_138361.5(LRSAM1):c.620-3C>T rs373015900
NM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_138361.5(LRSAM1):c.64A>T (p.Met22Leu) rs769236666
NM_138361.5(LRSAM1):c.676G>A (p.Asp226Asn)
NM_138361.5(LRSAM1):c.694C>T (p.Arg232Trp) rs754527468
NM_138361.5(LRSAM1):c.695G>A (p.Arg232Gln) rs778692919
NM_138361.5(LRSAM1):c.716C>T (p.Thr239Met)
NM_138361.5(LRSAM1):c.717G>A (p.Thr239=) rs769930277
NM_138361.5(LRSAM1):c.775A>T (p.Arg259Trp)
NM_138361.5(LRSAM1):c.792G>A (p.Met264Ile)
NM_138361.5(LRSAM1):c.818G>A (p.Arg273His)
NM_138361.5(LRSAM1):c.82G>T (p.Ala28Ser) rs1564248714
NM_138361.5(LRSAM1):c.850C>T (p.Leu284Phe)
NM_138361.5(LRSAM1):c.893C>T (p.Thr298Met) rs747368361
NM_138361.5(LRSAM1):c.89C>A (p.Ala30Glu) rs769070078
NM_138361.5(LRSAM1):c.913C>T (p.Arg305Trp) rs376566243
NM_138361.5(LRSAM1):c.91G>A (p.Asp31Asn) rs1564248731
NM_138361.5(LRSAM1):c.937C>T (p.His313Tyr) rs1588120809
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835
NM_138361.5(LRSAM1):c.962G>A (p.Arg321Gln) rs145881988
NM_138361.5(LRSAM1):c.968G>A (p.Arg323Gln)
NM_138361.5(LRSAM1):c.98T>G (p.Ile33Ser)

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