ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3613
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_33241563)_(46663513_?)dup
NC_000001.11:g.(?_32775971)_(32797853_?)dup
NC_000001.11:g.(?_32810581)_(32811067_?)del
NC_000001.11:g.(?_32810591)_(32811057_?)del
NC_000003.11:g.(?_128514201)_(128631967_?)dup
NC_000003.11:g.(?_179118981)_(179144008_?)dup
NC_000003.12:g.(?_128795358)_(128813432_?)dup
NC_000003.12:g.(?_179401203)_(179426210_?)dup
NC_000005.9:g.(?_130494966)_(130501051_?)dup
NC_000006.12:g.(?_109825078)_(109825275_?)del
NC_000007.13:g.(?_75931813)_(75933510_?)dup
NC_000007.14:g.(?_76301442)_(76304183_?)dup
NC_000008.10:g.(?_133141489)_(134296574_?)dup
NC_000008.10:g.(?_24810303)_(24814049_?)dup
NC_000008.10:g.(?_24810313)_(24814039_?)dup
NC_000008.10:g.(?_74888497)_(75274233_?)dup
NC_000008.11:g.(?_133236171)_(133298304_?)dup
NC_000008.11:g.(?_74349383)_(74368110_?)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.(?_10028442)_(10193997_?)del
NC_000011.10:g.(?_10294005)_(10294079_?)dup
NC_000011.10:g.(?_68908125)_(68908651_?)del
NC_000011.10:g.(?_9807990)_(9858406_?)del
NC_000012.11:g.(?_32786463)_(32832419_?)dup
NC_000012.12:g.(?_32598477)_(32598606_?)del
NC_000012.12:g.(?_32633539)_(32640543_?)dup
NC_000014.8:g.(?_105167683)_(105185180_?)dup
NC_000014.8:g.(?_105176405)_(105185180_?)dup
NC_000014.9:g.(?_101925141)_(101964947_?)del
NC_000014.9:g.(?_102026564)_(102050573_?)dup
NC_000014.9:g.(?_104701356)_(104703963_?)del
NC_000016.10:g.(?_11549637)_(11556730_?)dup
NC_000016.9:g.(?_11643473)_(11650606_?)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
NC_000019.9:g.(?_40899863)_(40913849_?)dup
NC_000023.10:g.(?_24483553)_(24557301_?)dup
NC_000023.11:g.(?_24465436)_(24465581_?)del
NC_000023.11:g.(?_24494722)_(24539184_?)del
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_001136473.1(LITAF):c.*107C>T rs774123275
NM_001136473.1(LITAF):c.*117C>T rs748017885
NM_001136473.1(LITAF):c.*118G>A rs864622744
NM_001136473.1(LITAF):c.*17-3C>T rs774213197
NM_001136473.1(LITAF):c.*43C>T rs797044848
NM_001136473.1(LITAF):c.*48T>C
NM_001136473.1(LITAF):c.*49G>A rs144232569
NM_001136473.1(LITAF):c.*51G>A rs780788687
NM_001136473.1(LITAF):c.*57G>A rs754821950
NM_001136473.1(LITAF):c.*63C>T rs1174214039
NM_001136473.1(LITAF):c.*68C>A rs374918259
NM_001136473.1(LITAF):c.*69G>T
NM_001136473.1(LITAF):c.*96G>A rs543022814
NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser) rs375202318
NM_001136473.1(LITAF):c.124G>T (p.Gly42Trp)
NM_001136473.1(LITAF):c.135G>A (p.Thr45=) rs758166691
NM_001136473.1(LITAF):c.147G>A (p.Thr49=) rs145659732
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser) rs752978718
NM_001136473.1(LITAF):c.157G>A (p.Gly53Arg)
NM_001136473.1(LITAF):c.172C>T (p.Pro58Ser)
NM_001136473.1(LITAF):c.17C>T (p.Pro6Leu)
NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser) rs1555466907
NM_001136473.1(LITAF):c.209A>G (p.Asn70Ser) rs746577483
NM_001136473.1(LITAF):c.220+4C>T
NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala) rs756539992
NM_001136473.1(LITAF):c.226G>A (p.Val76Met) rs371334679
NM_001136473.1(LITAF):c.226G>T (p.Val76Leu) rs371334679
NM_001136473.1(LITAF):c.236T>C (p.Val79Ala) rs1597329501
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys) rs539627278
NM_001136473.1(LITAF):c.25G>A (p.Ala9Thr) rs1267030887
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys) rs375665454
NM_001136473.1(LITAF):c.26C>T (p.Ala9Val)
NM_001136473.1(LITAF):c.272C>T (p.Pro91Leu) rs11544251
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_001136473.1(LITAF):c.310G>A (p.Val104Met) rs373445989
NM_001136473.1(LITAF):c.310G>T (p.Val104Leu)
NM_001136473.1(LITAF):c.340C>G (p.Leu114Val) rs1567235442
NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro) rs1597329148
NM_001136473.1(LITAF):c.374T>C (p.Leu125Pro)
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.55G>A (p.Ala19Thr)
NM_001136473.1(LITAF):c.85G>A (p.Val29Ile) rs767809270
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr) rs368574479
NM_001142386.3(PDK3):c.1126G>A (p.Ala376Thr) rs781166988
NM_001142386.3(PDK3):c.160C>T (p.Pro54Ser) rs1569221445
NM_001142386.3(PDK3):c.320+6T>C rs748960946
NM_001142386.3(PDK3):c.474C>T (p.Arg158=) rs756879455
NM_001142386.3(PDK3):c.485G>A (p.Arg162His) rs867468579
NM_001142386.3(PDK3):c.486C>T (p.Arg162=) rs1479754596
NM_001142386.3(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_001142386.3(PDK3):c.582G>A (p.Ala194=) rs144345856
NM_001142386.3(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_001142386.3(PDK3):c.811A>G (p.Lys271Glu) rs1569227273
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_001304481.1(FGD4):c.1488_1490AGA[3] (p.Glu499del) rs1264651352
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_003680.3(YARS1):c.1012A>G (p.Ser338Gly) rs763921769
NM_003680.3(YARS1):c.1014C>G (p.Ser338Arg)
NM_003680.3(YARS1):c.1042+3A>C rs772446297
NM_003680.3(YARS1):c.1048A>G (p.Met350Val) rs1553122785
NM_003680.3(YARS1):c.1049T>C (p.Met350Thr) rs1490757097
NM_003680.3(YARS1):c.1094del (p.Pro365fs) rs1413975578
NM_003680.3(YARS1):c.1099C>T (p.Arg367Trp) rs376054085
NM_003680.3(YARS1):c.1100G>A (p.Arg367Gln) rs762473756
NM_003680.3(YARS1):c.1117G>A (p.Gly373Arg) rs764584188
NM_003680.3(YARS1):c.112del (p.Ile38fs)
NM_003680.3(YARS1):c.1138A>C (p.Lys380Gln) rs1405248711
NM_003680.3(YARS1):c.1175T>C (p.Ile392Thr) rs749411607
NM_003680.3(YARS1):c.1180G>A (p.Val394Met) rs863224717
NM_003680.3(YARS1):c.1198C>T (p.Arg400Trp) rs1179946635
NM_003680.3(YARS1):c.1227C>A (p.Phe409Leu)
NM_003680.3(YARS1):c.122G>A (p.Gly41Glu) rs1569778143
NM_003680.3(YARS1):c.1281dup (p.Pro428fs)
NM_003680.3(YARS1):c.1348C>T (p.Arg450Cys) rs141955005
NM_003680.3(YARS1):c.1349G>A (p.Arg450His)
NM_003680.3(YARS1):c.1349G>C (p.Arg450Pro) rs147005844
NM_003680.3(YARS1):c.1405del (p.Phe468_Val469insTer) rs777156625
NM_003680.3(YARS1):c.1418A>G (p.Glu473Gly)
NM_003680.3(YARS1):c.1435G>A (p.Glu479Lys)
NM_003680.3(YARS1):c.1476+2T>C rs1553122620
NM_003680.3(YARS1):c.1487A>C (p.Lys496Thr)
NM_003680.3(YARS1):c.1487A>G (p.Lys496Arg) rs768160751
NM_003680.3(YARS1):c.1507G>A (p.Ala503Thr) rs778099655
NM_003680.3(YARS1):c.1507G>T (p.Ala503Ser) rs778099655
NM_003680.3(YARS1):c.1514G>A (p.Trp505Ter) rs1553122276
NM_003680.3(YARS1):c.1531A>G (p.Met511Val) rs1569696187
NM_003680.3(YARS1):c.1549A>G (p.Ile517Val) rs371220818
NM_003680.3(YARS1):c.1570G>C (p.Gly524Arg)
NM_003680.3(YARS1):c.1571G>C (p.Gly524Ala) rs201687117
NM_003680.3(YARS1):c.1574G>A (p.Gly525Glu)
NM_003680.3(YARS1):c.166A>G (p.Met56Val)
NM_003680.3(YARS1):c.176T>C (p.Ile59Thr) rs774466323
NM_003680.3(YARS1):c.177T>G (p.Ile59Met)
NM_003680.3(YARS1):c.178G>A (p.Ala60Thr) rs367649729
NM_003680.3(YARS1):c.181G>A (p.Asp61Asn) rs776582429
NM_003680.3(YARS1):c.205-2A>G rs538137948
NM_003680.3(YARS1):c.209C>G (p.Thr70Arg) rs771657997
NM_003680.3(YARS1):c.209C>T (p.Thr70Ile)
NM_003680.3(YARS1):c.211A>G (p.Ile71Val) rs145768628
NM_003680.3(YARS1):c.221C>T (p.Ala74Val) rs1429267110
NM_003680.3(YARS1):c.232G>A (p.Ala78Thr)
NM_003680.3(YARS1):c.260G>A (p.Trp87Ter) rs776952611
NM_003680.3(YARS1):c.277C>T (p.Arg93Ter)
NM_003680.3(YARS1):c.294G>C (p.Glu98Asp)
NM_003680.3(YARS1):c.322A>G (p.Ile108Val)
NM_003680.3(YARS1):c.347A>T (p.Lys116Met)
NM_003680.3(YARS1):c.362C>G (p.Thr121Ser)
NM_003680.3(YARS1):c.380+4A>G
NM_003680.3(YARS1):c.40A>T (p.Ile14Phe)
NM_003680.3(YARS1):c.41T>C (p.Ile14Thr) rs1553127237
NM_003680.3(YARS1):c.424C>A (p.Gln142Lys)
NM_003680.3(YARS1):c.425A>G (p.Gln142Arg)
NM_003680.3(YARS1):c.440A>C (p.Lys147Thr) rs769290451
NM_003680.3(YARS1):c.499C>A (p.Pro167Thr) rs1279417718
NM_003680.3(YARS1):c.502G>A (p.Gly168Arg) rs1473184666
NM_003680.3(YARS1):c.523G>T (p.Glu175Ter) rs1553124472
NM_003680.3(YARS1):c.542C>A (p.Ala181Asp) rs1191925938
NM_003680.3(YARS1):c.557T>C (p.Ile186Thr) rs766166915
NM_003680.3(YARS1):c.569A>G (p.Lys190Arg) rs750198437
NM_003680.3(YARS1):c.619C>T (p.Arg207Trp)
NM_003680.3(YARS1):c.631A>T (p.Met211Leu)
NM_003680.3(YARS1):c.695T>G (p.Ile232Ser) rs1553123310
NM_003680.3(YARS1):c.739_740delinsGC (p.Lys247Ala) rs1553123307
NM_003680.3(YARS1):c.746T>G (p.Phe249Cys) rs1009349245
NM_003680.3(YARS1):c.763G>A (p.Val255Met)
NM_003680.3(YARS1):c.795G>C (p.Lys265Asn) rs141482636
NM_003680.3(YARS1):c.799G>C (p.Val267Leu)
NM_003680.3(YARS1):c.819C>T (p.Ser273=)
NM_003680.3(YARS1):c.821-3T>C rs757673905
NM_003680.3(YARS1):c.827T>A (p.Val276Glu)
NM_003680.3(YARS1):c.874T>G (p.Tyr292Asp) rs753211165
NM_003680.3(YARS1):c.877G>A (p.Val293Met)
NM_003680.3(YARS1):c.880G>A (p.Asp294Asn) rs779432834
NM_003680.3(YARS1):c.899C>T (p.Ala300Val)
NM_003680.3(YARS1):c.937G>A (p.Val313Ile)
NM_003680.3(YARS1):c.946G>A (p.Ala316Thr) rs138454151
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_005340.7(HINT1):c.110G>A (p.Arg37Gln)
NM_005340.7(HINT1):c.117T>A (p.Leu39=)
NM_005340.7(HINT1):c.136C>T (p.Pro46Ser)
NM_005340.7(HINT1):c.137C>A (p.Pro46His)
NM_005340.7(HINT1):c.142G>A (p.Ala48Thr)
NM_005340.7(HINT1):c.148A>C (p.Thr50Pro)
NM_005340.7(HINT1):c.188T>A (p.Ile63Asn)
NM_005340.7(HINT1):c.203A>T (p.Asp68Val) rs371048016
NM_005340.7(HINT1):c.216T>A (p.Ser72Arg)
NM_005340.7(HINT1):c.217-3C>T rs1351028496
NM_005340.7(HINT1):c.237T>A (p.Ile79=) rs778878755
NM_005340.7(HINT1):c.242G>T (p.Gly81Val) rs1580682534
NM_005340.7(HINT1):c.243C>T (p.Gly81=) rs1426690264
NM_005340.7(HINT1):c.245A>T (p.Lys82Met)
NM_005340.7(HINT1):c.277G>T (p.Gly93Cys) rs755979803
NM_005340.7(HINT1):c.292G>A (p.Val98Met)
NM_005340.7(HINT1):c.329_330dup (p.Val111fs) rs1561535921
NM_005340.7(HINT1):c.331G>A (p.Val111Ile)
NM_005340.7(HINT1):c.365A>T (p.His122Leu) rs780156681
NM_005340.7(HINT1):c.59G>A (p.Gly20Glu)
NM_005340.7(HINT1):c.71G>T (p.Arg24Leu)
NM_005340.7(HINT1):c.81A>G (p.Ile27Met) rs1561538396
NM_005391.4(PDK3):c.1087dup (p.Ser363fs) rs1569228214
NM_005391.4(PDK3):c.597del (p.Asp199fs) rs1569225940
NM_005391.5(PDK3):c.1097T>G (p.Phe366Cys)
NM_005391.5(PDK3):c.1106T>C (p.Leu369Pro)
NM_005391.5(PDK3):c.13C>T (p.Arg5Trp)
NM_005391.5(PDK3):c.149G>A (p.Arg50Gln)
NM_005391.5(PDK3):c.422C>T (p.Pro141Leu)
NM_005391.5(PDK3):c.692C>G (p.Pro231Arg)
NM_005391.5(PDK3):c.940G>T (p.Glu314Ter)
NM_006070.6(TFG):c.1006C>T (p.Pro336Ser) rs371681149
NM_006070.6(TFG):c.1014T>G (p.Asn338Lys) rs1553704923
NM_006070.6(TFG):c.1030G>A (p.Ala344Thr) rs1576389587
NM_006070.6(TFG):c.1036C>T (p.Gln346Ter) rs1576389617
NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys) rs1375662436
NM_006070.6(TFG):c.1087T>G (p.Phe363Val)
NM_006070.6(TFG):c.1094C>T (p.Ser365Leu) rs1288104441
NM_006070.6(TFG):c.1123C>G (p.Pro375Ala) rs1234073129
NM_006070.6(TFG):c.1133C>T (p.Pro378Leu)
NM_006070.6(TFG):c.1145C>T (p.Ala382Val) rs138185005
NM_006070.6(TFG):c.1153C>T (p.Arg385Cys)
NM_006070.6(TFG):c.1154G>A (p.Arg385His)
NM_006070.6(TFG):c.1157C>T (p.Pro386Leu) rs766049461
NM_006070.6(TFG):c.1165G>C (p.Gly389Arg) rs1576390105
NM_006070.6(TFG):c.1172G>T (p.Gly391Val)
NM_006070.6(TFG):c.1199G>C (p.Arg400Pro)
NM_006070.6(TFG):c.196A>G (p.Ile66Val)
NM_006070.6(TFG):c.237G>T (p.Gln79His) rs1173009495
NM_006070.6(TFG):c.256C>G (p.Leu86Val)
NM_006070.6(TFG):c.268G>A (p.Val90Ile)
NM_006070.6(TFG):c.286C>T (p.Pro96Ser)
NM_006070.6(TFG):c.290T>A (p.Leu97His) rs1576366321
NM_006070.6(TFG):c.309A>G (p.Lys103=) rs369508900
NM_006070.6(TFG):c.310T>C (p.Tyr104His) rs775608477
NM_006070.6(TFG):c.391C>T (p.Pro131Ser) rs770053266
NM_006070.6(TFG):c.395C>A (p.Ser132Tyr)
NM_006070.6(TFG):c.409G>C (p.Glu137Gln)
NM_006070.6(TFG):c.458C>T (p.Ser153Phe) rs775354552
NM_006070.6(TFG):c.464A>G (p.Lys155Arg)
NM_006070.6(TFG):c.467A>G (p.Gln156Arg)
NM_006070.6(TFG):c.482T>C (p.Met161Thr) rs766899074
NM_006070.6(TFG):c.483G>A (p.Met161Ile) rs750964585
NM_006070.6(TFG):c.484G>A (p.Ala162Thr)
NM_006070.6(TFG):c.544A>C (p.Met182Leu)
NM_006070.6(TFG):c.545T>C (p.Met182Thr) rs199724547
NM_006070.6(TFG):c.567T>A (p.Asp189Glu)
NM_006070.6(TFG):c.608G>A (p.Arg203His)
NM_006070.6(TFG):c.664G>A (p.Val222Ile)
NM_006070.6(TFG):c.68G>A (p.Arg23Gln) rs774808090
NM_006070.6(TFG):c.716T>C (p.Ile239Thr) rs146004809
NM_006070.6(TFG):c.740A>G (p.Tyr247Cys) rs1559723912
NM_006070.6(TFG):c.743A>G (p.Gln248Arg) rs1576379554
NM_006070.6(TFG):c.754G>A (p.Gly252Ser) rs561904697
NM_006070.6(TFG):c.792G>T (p.Gln264His) rs1576379647
NM_006070.6(TFG):c.826T>C (p.Tyr276His) rs1559726842
NM_006070.6(TFG):c.852A>C (p.Gln284His) rs1559726965
NM_006070.6(TFG):c.870A>G (p.Gly290=)
NM_006070.6(TFG):c.882A>C (p.Gln294His) rs751393611
NM_006070.6(TFG):c.898C>A (p.Pro300Thr)
NM_006070.6(TFG):c.898C>T (p.Pro300Ser) rs1210008384
NM_006070.6(TFG):c.943C>T (p.Pro315Ser) rs1553704852
NM_006070.6(TFG):c.944C>T (p.Pro315Leu) rs753375115
NM_006070.6(TFG):c.976G>T (p.Ala326Ser)
NM_006070.6(TFG):c.97T>C (p.Tyr33His)
NM_006070.6(TFG):c.980A>G (p.Gln327Arg) rs1431898500
NM_006070.6(TFG):c.98A>G (p.Tyr33Cys) rs763523148
NM_006096.3(NDRG1):c.1022G>A (p.Arg341His) rs1392179290
NM_006096.3(NDRG1):c.1027C>T (p.Arg343Cys) rs146613168
NM_006096.3(NDRG1):c.1028G>A (p.Arg343His) rs144714216
NM_006096.3(NDRG1):c.1032_1091del (p.340_349TRSRSHTSEG[1]) rs1554747479
NM_006096.3(NDRG1):c.1042G>C (p.Glu348Gln) rs775650624
NM_006096.3(NDRG1):c.1046G>A (p.Gly349Asp) rs1209851405
NM_006096.3(NDRG1):c.1051C>T (p.Arg351Ter) rs765621411
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2]) rs751274009
NM_006096.3(NDRG1):c.106G>T (p.Asp36Tyr) rs745832151
NM_006096.3(NDRG1):c.1085G>A (p.Ser362Asn) rs749124058
NM_006096.3(NDRG1):c.1088G>A (p.Arg363His) rs181121989
NM_006096.3(NDRG1):c.1091C>T (p.Ser364Leu) rs767058269
NM_006096.3(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.3(NDRG1):c.1112_1114delinsTTT (p.His371Leu) rs1554747447
NM_006096.3(NDRG1):c.1134G>A (p.Ser378=) rs750369546
NM_006096.3(NDRG1):c.1153G>A (p.Ala385Thr) rs1276408714
NM_006096.3(NDRG1):c.122A>G (p.His41Arg) rs2233318
NM_006096.3(NDRG1):c.158A>G (p.Lys53Arg) rs140634799
NM_006096.3(NDRG1):c.166C>T (p.Arg56Trp) rs769720211
NM_006096.3(NDRG1):c.167G>A (p.Arg56Gln) rs151322132
NM_006096.3(NDRG1):c.205C>T (p.His69Tyr) rs373590447
NM_006096.3(NDRG1):c.212C>A (p.Thr71Asn) rs1554591949
NM_006096.3(NDRG1):c.251A>G (p.Glu84Gly) rs1372913345
NM_006096.3(NDRG1):c.304G>A (p.Gly102Ser) rs200433822
NM_006096.3(NDRG1):c.307G>A (p.Ala103Thr) rs374160497
NM_006096.3(NDRG1):c.307G>T (p.Ala103Ser) rs374160497
NM_006096.3(NDRG1):c.311C>A (p.Ala104Asp) rs1346600957
NM_006096.3(NDRG1):c.345G>T (p.Met115Ile) rs1345503929
NM_006096.3(NDRG1):c.373G>A (p.Val125Ile) rs200593999
NM_006096.3(NDRG1):c.416C>G (p.Thr139Arg) rs863224745
NM_006096.3(NDRG1):c.426C>T (p.Gly142=) rs370604799
NM_006096.3(NDRG1):c.431A>G (p.Tyr144Cys) rs139220402
NM_006096.3(NDRG1):c.4T>C (p.Ser2Pro) rs781381539
NM_006096.3(NDRG1):c.506C>T (p.Ala169Val) rs963190299
NM_006096.3(NDRG1):c.523T>C (p.Trp175Arg) rs1586434783
NM_006096.3(NDRG1):c.563C>T (p.Pro188Leu) rs779194865
NM_006096.3(NDRG1):c.571G>A (p.Val191Met) rs749716207
NM_006096.3(NDRG1):c.582C>G (p.His194Gln) rs1305919985
NM_006096.3(NDRG1):c.595-6A>G rs1554749794
NM_006096.3(NDRG1):c.613G>A (p.Val205Met) rs138839833
NM_006096.3(NDRG1):c.63+6T>C rs199597649
NM_006096.3(NDRG1):c.656T>A (p.Met219Lys) rs147184316
NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser) rs137993172
NM_006096.3(NDRG1):c.703C>T (p.Arg235Cys) rs772268356
NM_006096.3(NDRG1):c.704G>A (p.Arg235His) rs748331213
NM_006096.3(NDRG1):c.776T>C (p.Val259Ala) rs201759485
NM_006096.3(NDRG1):c.800A>G (p.Asp267Gly) rs1287073036
NM_006096.3(NDRG1):c.891+5G>A rs150968034
NM_006096.3(NDRG1):c.893C>T (p.Pro298Leu) rs753836263
NM_006096.3(NDRG1):c.894G>A (p.Pro298=) rs368061370
NM_006096.3(NDRG1):c.904G>A (p.Ala302Thr) rs373637595
NM_006096.3(NDRG1):c.950C>T (p.Ser317Leu) rs904186690
NM_006096.3(NDRG1):c.956G>A (p.Ser319Asn) rs1564277421
NM_006096.3(NDRG1):c.964C>T (p.Arg322Cys) rs368404338
NM_006096.3(NDRG1):c.980G>A (p.Arg327His) rs565705964
NM_006096.4(NDRG1):c.100-3C>T
NM_006096.4(NDRG1):c.1011G>A (p.Leu337=)
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln)
NM_006096.4(NDRG1):c.1057C>T (p.Arg353Cys)
NM_006096.4(NDRG1):c.1062_1091dup (p.340_349TRSRSHTSEG[4])
NM_006096.4(NDRG1):c.109A>T (p.Ile37Phe)
NM_006096.4(NDRG1):c.10G>A (p.Glu4Lys)
NM_006096.4(NDRG1):c.1156G>A (p.Gly386Arg)
NM_006096.4(NDRG1):c.1178_1180del (p.Ser393del)
NM_006096.4(NDRG1):c.140C>T (p.Thr47Met)
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr)
NM_006096.4(NDRG1):c.185A>G (p.Tyr62Cys)
NM_006096.4(NDRG1):c.201G>A (p.Met67Ile)
NM_006096.4(NDRG1):c.217T>C (p.Tyr73His)
NM_006096.4(NDRG1):c.319C>T (p.Pro107Ser)
NM_006096.4(NDRG1):c.337C>T (p.Pro113Ser)
NM_006096.4(NDRG1):c.355G>C (p.Ala119Pro)
NM_006096.4(NDRG1):c.400A>G (p.Ile134Val)
NM_006096.4(NDRG1):c.456C>G (p.Asn152Lys)
NM_006096.4(NDRG1):c.47T>C (p.Leu16Ser)
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)
NM_006096.4(NDRG1):c.50T>A (p.Val17Glu)
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
NM_006096.4(NDRG1):c.643A>G (p.Ile215Val)
NM_006096.4(NDRG1):c.699-3C>T
NM_006096.4(NDRG1):c.701G>A (p.Arg234Gln)
NM_006096.4(NDRG1):c.722G>A (p.Arg241Gln)
NM_006096.4(NDRG1):c.730C>T (p.Pro244Ser)
NM_006096.4(NDRG1):c.73G>T (p.Gly25Cys)
NM_006096.4(NDRG1):c.742A>G (p.Thr248Ala)
NM_006096.4(NDRG1):c.758G>A (p.Cys253Tyr)
NM_006096.4(NDRG1):c.794C>T (p.Ala265Val)
NM_006096.4(NDRG1):c.7C>T (p.Arg3Trp)
NM_006096.4(NDRG1):c.802G>T (p.Ala268Ser)
NM_006096.4(NDRG1):c.805G>A (p.Val269Met)
NM_006096.4(NDRG1):c.899A>G (p.Lys300Arg)
NM_006096.4(NDRG1):c.965G>T (p.Arg322Leu)
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_014845.5(FIG4):c.101C>T (p.Thr34Met) rs375691683
NM_014845.5(FIG4):c.1064A>G (p.His355Arg) rs772356514
NM_014845.5(FIG4):c.109C>T (p.Arg37Cys) rs368625871
NM_014845.5(FIG4):c.110G>A (p.Arg37His) rs192324110
NM_014845.5(FIG4):c.1187C>G (p.Ala396Gly) rs758599286
NM_014845.5(FIG4):c.1187C>T (p.Ala396Val) rs758599286
NM_014845.5(FIG4):c.1199A>G (p.Tyr400Cys) rs755232396
NM_014845.5(FIG4):c.120G>T (p.Lys40Asn) rs1346518731
NM_014845.5(FIG4):c.1271+5A>G rs374583399
NM_014845.5(FIG4):c.1313A>G (p.Glu438Gly) rs535554973
NM_014845.5(FIG4):c.1338C>G (p.Phe446Leu) rs1353768172
NM_014845.5(FIG4):c.1348C>T (p.Arg450Cys) rs201072058
NM_014845.5(FIG4):c.1363T>G (p.Cys455Gly) rs1012991465
NM_014845.5(FIG4):c.1375C>T (p.Arg459Trp) rs1220742669
NM_014845.5(FIG4):c.137C>G (p.Pro46Arg) rs1562642404
NM_014845.5(FIG4):c.1405G>A (p.Gly469Arg) rs201742496
NM_014845.5(FIG4):c.1427G>A (p.Arg476His) rs192823053
NM_014845.5(FIG4):c.14C>T (p.Ala5Val) rs915749340
NM_014845.5(FIG4):c.1544T>C (p.Ile515Thr) rs370249754
NM_014845.5(FIG4):c.155T>C (p.Ile52Thr) rs754533235
NM_014845.5(FIG4):c.1750+3A>G rs758390500
NM_014845.5(FIG4):c.1752T>A (p.Asp584Glu) rs1060501402
NM_014845.5(FIG4):c.1877C>T (p.Pro626Leu) rs772937400
NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.5(FIG4):c.1880C>A (p.Thr627Lys) rs770831509
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327
NM_014845.5(FIG4):c.2011A>G (p.Ile671Val) rs1554307877
NM_014845.5(FIG4):c.2036G>A (p.Arg679Gln) rs192447225
NM_014845.5(FIG4):c.2042A>G (p.Tyr681Cys) rs554382573
NM_014845.5(FIG4):c.205C>T (p.Arg69Cys) rs540674198
NM_014845.5(FIG4):c.2069T>C (p.Phe690Ser) rs1237449502
NM_014845.5(FIG4):c.2080A>G (p.Met694Val) rs143531641
NM_014845.5(FIG4):c.2095C>T (p.Arg699Cys) rs764799053
NM_014845.5(FIG4):c.2096G>A (p.Arg699His) rs750091928
NM_014845.5(FIG4):c.2098G>T (p.Asp700Tyr) rs1554308483
NM_014845.5(FIG4):c.2113A>G (p.Thr705Ala) rs766031746
NM_014845.5(FIG4):c.2146C>T (p.Arg716Cys) rs139235893
NM_014845.5(FIG4):c.2181-10C>A rs1583740892
NM_014845.5(FIG4):c.2192A>G (p.Asn731Ser) rs1467094847
NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) rs372846619
NM_014845.5(FIG4):c.2339A>G (p.Lys780Arg) rs373590484
NM_014845.5(FIG4):c.2360G>A (p.Ser787Asn) rs377017892
NM_014845.5(FIG4):c.2376+5G>C rs528952794
NM_014845.5(FIG4):c.2377-10T>A rs9481005
NM_014845.5(FIG4):c.2405A>G (p.Tyr802Cys) rs370293982
NM_014845.5(FIG4):c.2459+5G>A rs367944508
NM_014845.5(FIG4):c.2460-8A>G rs201965891
NM_014845.5(FIG4):c.2464G>C (p.Val822Leu) rs1208125100
NM_014845.5(FIG4):c.2546+5G>A rs1060501401
NM_014845.5(FIG4):c.2547-3T>A rs537171532
NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu) rs200970494
NM_014845.5(FIG4):c.2639T>A (p.Ile880Asn) rs746915624
NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) rs750069994
NM_014845.5(FIG4):c.2704A>G (p.Ile902Val) rs143685038
NM_014845.5(FIG4):c.2713C>T (p.Arg905Cys) rs754970037
NM_014845.5(FIG4):c.301T>C (p.Phe101Leu) rs1209947403
NM_014845.5(FIG4):c.328A>G (p.Ile110Val) rs140331779
NM_014845.5(FIG4):c.350C>T (p.Ala117Val) rs551339249
NM_014845.5(FIG4):c.374A>G (p.Tyr125Cys) rs145466148
NM_014845.5(FIG4):c.3_23dup (p.Met1_Pro7dup) rs1462234190
NM_014845.5(FIG4):c.414T>A (p.Asp138Glu) rs1562648534
NM_014845.5(FIG4):c.446+3A>G rs201642753
NM_014845.5(FIG4):c.449A>G (p.Tyr150Cys) rs1233666827
NM_014845.5(FIG4):c.50T>C (p.Leu17Pro) rs587777713
NM_014845.5(FIG4):c.512_514del (p.Leu171del) rs763532476
NM_014845.5(FIG4):c.535C>G (p.Leu179Val) rs141116831
NM_014845.5(FIG4):c.535C>T (p.Leu179Phe) rs141116831
NM_014845.5(FIG4):c.548G>A (p.Arg183Gln) rs781588508
NM_014845.5(FIG4):c.584A>T (p.Gln195Leu) rs749696803
NM_014845.5(FIG4):c.589C>T (p.Arg197Cys) rs770528195
NM_014845.5(FIG4):c.590G>T (p.Arg197Leu) rs543462663
NM_014845.5(FIG4):c.730C>T (p.Arg244Cys) rs138376077
NM_014845.5(FIG4):c.805G>T (p.Val269Phe) rs1474263523
NM_014845.5(FIG4):c.80T>C (p.Val27Ala) rs769687105
NM_014845.5(FIG4):c.815T>C (p.Ile272Thr) rs765737780
NM_014845.5(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014845.5(FIG4):c.872G>A (p.Cys291Tyr) rs766829595
NM_014845.5(FIG4):c.974G>C (p.Arg325Thr) rs1060501400
NM_014845.6(FIG4):c.1116C>G (p.Ile372Met)
NM_014845.6(FIG4):c.116T>C (p.Leu39Ser)
NM_014845.6(FIG4):c.1181_1183TTG[1] (p.Val395del)
NM_014845.6(FIG4):c.121A>G (p.Ile41Val)
NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu)
NM_014845.6(FIG4):c.1228A>G (p.Thr410Ala)
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp)
NM_014845.6(FIG4):c.1434G>A (p.Gln478=)
NM_014845.6(FIG4):c.1601A>G (p.Tyr534Cys)
NM_014845.6(FIG4):c.1658G>C (p.Arg553Pro)
NM_014845.6(FIG4):c.16G>T (p.Ala6Ser)
NM_014845.6(FIG4):c.170T>A (p.Val57Asp)
NM_014845.6(FIG4):c.1728A>G (p.Arg576=)
NM_014845.6(FIG4):c.175A>G (p.Thr59Ala)
NM_014845.6(FIG4):c.1804G>A (p.Glu602Lys)
NM_014845.6(FIG4):c.1808G>A (p.Gly603Glu)
NM_014845.6(FIG4):c.1834A>G (p.Thr612Ala)
NM_014845.6(FIG4):c.183A>G (p.Gln61=)
NM_014845.6(FIG4):c.1870C>T (p.Leu624Phe)
NM_014845.6(FIG4):c.1996A>G (p.Lys666Glu)
NM_014845.6(FIG4):c.1999T>C (p.Tyr667His)
NM_014845.6(FIG4):c.1A>C (p.Met1Leu)
NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn)
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile)
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile)
NM_014845.6(FIG4):c.2147G>A (p.Arg716His)
NM_014845.6(FIG4):c.2183A>G (p.Asn728Ser)
NM_014845.6(FIG4):c.2250C>T (p.Ser750=)
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp)
NM_014845.6(FIG4):c.2329A>C (p.Thr777Pro)
NM_014845.6(FIG4):c.2403A>G (p.Leu801=)
NM_014845.6(FIG4):c.244G>A (p.Gly82Arg)
NM_014845.6(FIG4):c.2485C>T (p.His829Tyr)
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu)
NM_014845.6(FIG4):c.2547-1G>A
NM_014845.6(FIG4):c.2591A>G (p.Gln864Arg)
NM_014845.6(FIG4):c.2654G>T (p.Gly885Val)
NM_014845.6(FIG4):c.2661dup (p.Gln888fs) rs778839285
NM_014845.6(FIG4):c.266C>T (p.Ala89Val)
NM_014845.6(FIG4):c.2687C>G (p.Ser896Cys)
NM_014845.6(FIG4):c.281G>A (p.Gly94Asp)
NM_014845.6(FIG4):c.321T>G (p.Ile107Met)
NM_014845.6(FIG4):c.353A>G (p.Asp118Gly)
NM_014845.6(FIG4):c.359G>A (p.Gly120Glu)
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys)
NM_014845.6(FIG4):c.434C>T (p.Pro145Leu)
NM_014845.6(FIG4):c.446+5G>C
NM_014845.6(FIG4):c.469G>A (p.Val157Met)
NM_014845.6(FIG4):c.52T>C (p.Tyr18His)
NM_014845.6(FIG4):c.53A>G (p.Tyr18Cys)
NM_014845.6(FIG4):c.559G>A (p.Glu187Lys)
NM_014845.6(FIG4):c.69A>G (p.Arg23=)
NM_014845.6(FIG4):c.788A>G (p.Tyr263Cys)
NM_014845.6(FIG4):c.809C>T (p.Thr270Ile)
NM_014845.6(FIG4):c.865G>A (p.Ala289Thr)
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_016156.5(MTMR2):c.1101G>C (p.Lys367Asn) rs747178197
NM_016156.5(MTMR2):c.1118A>G (p.Asn373Ser) rs778906960
NM_016156.5(MTMR2):c.1121T>C (p.Ile374Thr) rs114883605
NM_016156.5(MTMR2):c.1175T>C (p.Ile392Thr) rs1555060014
NM_016156.5(MTMR2):c.1190C>G (p.Ala397Gly) rs145714734
NM_016156.5(MTMR2):c.1328G>A (p.Arg443Gln) rs1590978311
NM_016156.5(MTMR2):c.1345G>A (p.Val449Met) rs776520645
NM_016156.5(MTMR2):c.1363A>C (p.Ser455Arg) rs1590978234
NM_016156.5(MTMR2):c.1364G>A (p.Ser455Asn) rs1565348037
NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) rs139369561
NM_016156.5(MTMR2):c.1402G>C (p.Asp468His) rs142460913
NM_016156.5(MTMR2):c.1411C>T (p.His471Tyr) rs1193305699
NM_016156.5(MTMR2):c.1446A>G (p.Gln482=) rs376166939
NM_016156.5(MTMR2):c.14C>G (p.Ser5Trp) rs778430688
NM_016156.5(MTMR2):c.1511T>C (p.Phe504Ser) rs1221811087
NM_016156.5(MTMR2):c.1523T>C (p.Ile508Thr) rs769280444
NM_016156.5(MTMR2):c.1552G>A (p.Gly518Arg) rs1014132718
NM_016156.5(MTMR2):c.1562T>A (p.Leu521His) rs1565344022
NM_016156.5(MTMR2):c.1594-9T>G rs774704606
NM_016156.5(MTMR2):c.1630A>G (p.Ile544Val) rs781368440
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) rs377006678
NM_016156.5(MTMR2):c.1741A>G (p.Ile581Val) rs149476960
NM_016156.5(MTMR2):c.1770+4T>C rs1565342479
NM_016156.5(MTMR2):c.1770G>A (p.Gln590=) rs778532655
NM_016156.5(MTMR2):c.1843C>G (p.Gln615Glu) rs886048770
NM_016156.5(MTMR2):c.1851G>C (p.Glu617Asp) rs369804894
NM_016156.5(MTMR2):c.1852A>C (p.Ile618Leu) rs1392067749
NM_016156.5(MTMR2):c.1861C>T (p.Arg621Ter) rs753364428
NM_016156.5(MTMR2):c.1900C>T (p.Gln634Ter) rs923973985
NM_016156.5(MTMR2):c.1910C>T (p.Thr637Ile) rs1555056657
NM_016156.5(MTMR2):c.1916del (p.Val639fs) rs779740723
NM_016156.5(MTMR2):c.197A>G (p.Glu66Gly) rs756405288
NM_016156.5(MTMR2):c.232T>A (p.Leu78Met) rs750344055
NM_016156.5(MTMR2):c.262+4C>T rs760282236
NM_016156.5(MTMR2):c.262+5G>A rs1565361115
NM_016156.5(MTMR2):c.301G>A (p.Val101Ile) rs1340382592
NM_016156.5(MTMR2):c.308G>A (p.Gly103Glu) rs1590997541
NM_016156.5(MTMR2):c.327T>G (p.Asn109Lys) rs1322357085
NM_016156.5(MTMR2):c.350T>C (p.Met117Thr) rs752402777
NM_016156.5(MTMR2):c.355C>G (p.Arg119Gly) rs142774695
NM_016156.5(MTMR2):c.356G>A (p.Arg119Gln) rs759086106
NM_016156.5(MTMR2):c.357+4A>C rs863224750
NM_016156.5(MTMR2):c.35C>T (p.Ser12Phe) rs755619139
NM_016156.5(MTMR2):c.408A>C (p.Glu136Asp) rs1555065024
NM_016156.5(MTMR2):c.431G>A (p.Arg144Gln) rs1555065007
NM_016156.5(MTMR2):c.444T>G (p.Ser148=) rs1555065002
NM_016156.5(MTMR2):c.56C>T (p.Pro19Leu) rs574213477
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) rs186380748
NM_016156.5(MTMR2):c.626A>G (p.Tyr209Cys) rs967619161
NM_016156.5(MTMR2):c.791G>A (p.Arg264Lys) rs1590984978
NM_016156.5(MTMR2):c.80G>C (p.Ser27Thr) rs879253940
NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) rs587779385
NM_016156.5(MTMR2):c.829A>C (p.Ser277Arg) rs779257949
NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) rs200898934
NM_016156.5(MTMR2):c.94C>T (p.His32Tyr) rs1591025020
NM_016156.6(MTMR2):c.10A>G (p.Ser4Gly)
NM_016156.6(MTMR2):c.11G>C (p.Ser4Thr)
NM_016156.6(MTMR2):c.1220A>G (p.Glu407Gly)
NM_016156.6(MTMR2):c.1637G>A (p.Ser546Asn)
NM_016156.6(MTMR2):c.1637G>C (p.Ser546Thr)
NM_016156.6(MTMR2):c.1651T>C (p.Phe551Leu)
NM_016156.6(MTMR2):c.1723C>G (p.Leu575Val)
NM_016156.6(MTMR2):c.1763A>C (p.Lys588Thr)
NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter)
NM_016156.6(MTMR2):c.1843C>T (p.Gln615Ter)
NM_016156.6(MTMR2):c.1851_1852del (p.Glu617fs)
NM_016156.6(MTMR2):c.1862G>C (p.Arg621Pro)
NM_016156.6(MTMR2):c.1867A>G (p.Thr623Ala)
NM_016156.6(MTMR2):c.20_21delinsTT (p.Cys7Phe)
NM_016156.6(MTMR2):c.22G>A (p.Glu8Lys)
NM_016156.6(MTMR2):c.248A>C (p.Asn83Thr)
NM_016156.6(MTMR2):c.282A>G (p.Ile94Met)
NM_016156.6(MTMR2):c.352G>A (p.Glu118Lys)
NM_016156.6(MTMR2):c.404T>C (p.Val135Ala)
NM_016156.6(MTMR2):c.432_434del (p.Gly145del)
NM_016156.6(MTMR2):c.479A>C (p.Asn160Thr)
NM_016156.6(MTMR2):c.508C>T (p.Arg170Trp)
NM_016156.6(MTMR2):c.52C>T (p.Arg18Trp)
NM_016156.6(MTMR2):c.67G>T (p.Asp23Tyr)
NM_016156.6(MTMR2):c.718T>A (p.Tyr240Asn)
NM_016156.6(MTMR2):c.721C>T (p.Pro241Ser)
NM_016156.6(MTMR2):c.77C>T (p.Ser26Phe)
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185
NM_018972.4(GDAP1):c.1037G>A (p.Ser346Asn) rs1380854548
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)
NM_018972.4(GDAP1):c.1063C>T (p.Pro355Ser)
NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp) rs765609133
NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg) rs1448664085
NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr) rs756121249
NM_018972.4(GDAP1):c.118-3C>G rs750762719
NM_018972.4(GDAP1):c.161A>G (p.His54Arg) rs1441803924
NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) rs863224774
NM_018972.4(GDAP1):c.171T>G (p.Ser57Arg)
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)
NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg) rs1586795373
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val) rs144037310
NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr) rs751297226
NM_018972.4(GDAP1):c.302T>A (p.Phe101Tyr)
NM_018972.4(GDAP1):c.310+4A>G
NM_018972.4(GDAP1):c.338A>G (p.Lys113Arg) rs1290008555
NM_018972.4(GDAP1):c.350A>G (p.Tyr117Cys)
NM_018972.4(GDAP1):c.359G>T (p.Arg120Leu) rs1174933176
NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn) rs1279013936
NM_018972.4(GDAP1):c.393G>C (p.Leu131Phe) rs1586803187
NM_018972.4(GDAP1):c.419G>T (p.Cys140Phe) rs1375032292
NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr) rs570990910
NM_018972.4(GDAP1):c.475A>G (p.Arg159Gly)
NM_018972.4(GDAP1):c.485-3C>T rs761332159
NM_018972.4(GDAP1):c.523G>C (p.Ala175Pro) rs1362886530
NM_018972.4(GDAP1):c.526G>A (p.Glu176Lys) rs1475695228
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128
NM_018972.4(GDAP1):c.557T>C (p.Ile186Thr)
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile) rs144199299
NM_018972.4(GDAP1):c.58G>A (p.Ala20Thr)
NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly) rs376868259
NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser) rs878855054
NM_018972.4(GDAP1):c.619A>G (p.Lys207Glu)
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr) rs140384868
NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) rs556827873
NM_018972.4(GDAP1):c.656T>C (p.Val219Ala)
NM_018972.4(GDAP1):c.671A>C (p.Gln224Pro) rs1586806229
NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser) rs1026680509
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys)
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.694+5G>A rs752550394
NM_018972.4(GDAP1):c.695-1G>A
NM_018972.4(GDAP1):c.695-9T>A rs906225606
NM_018972.4(GDAP1):c.70G>T (p.Val24Phe)
NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg) rs763963750
NM_018972.4(GDAP1):c.721G>A (p.Gly241Ser) rs533081002
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) rs778105019
NM_018972.4(GDAP1):c.765G>C (p.Leu255Phe)
NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln) rs1425323007
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.4(GDAP1):c.785G>A (p.Gly262Glu) rs1563445155
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) rs150989205
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) rs879254192
NM_018972.4(GDAP1):c.820C>G (p.Pro274Ala) rs1563445213
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser) rs1417699318
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837
NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser) rs1563437000
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg)
NM_018972.4(GDAP1):c.880G>A (p.Gly294Arg)
NM_018972.4(GDAP1):c.892A>C (p.Asn298His)
NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala) rs1586807478
NM_018972.4(GDAP1):c.907G>T (p.Ala303Ser) rs368055667
NM_018972.4(GDAP1):c.927C>G (p.Phe309Leu)
NM_018972.4(GDAP1):c.937A>G (p.Lys313Glu)
NM_018972.4(GDAP1):c.970C>T (p.Leu324Phe) rs1176626666
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp) rs1416176817
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432
NM_018972.4(GDAP1):c.985C>T (p.Leu329Phe) rs879254196
NM_020631.5(PLEKHG5):c.1066C>T (p.Arg356Trp) rs764053619
NM_020631.5(PLEKHG5):c.1081-3C>T rs772519809
NM_020631.5(PLEKHG5):c.1082T>G (p.Leu361Arg) rs762368406
NM_020631.5(PLEKHG5):c.1112A>C (p.Glu371Ala) rs1569861657
NM_020631.5(PLEKHG5):c.112_114GAG[8] (p.Glu42_Glu43dup) rs760139855
NM_020631.5(PLEKHG5):c.1139C>T (p.Ala380Val) rs374286001
NM_020631.5(PLEKHG5):c.1170C>G (p.Ile390Met) rs771928245
NM_020631.5(PLEKHG5):c.124G>C (p.Glu42Gln) rs373611638
NM_020631.5(PLEKHG5):c.1264C>T (p.Leu422Phe) rs779799130
NM_020631.5(PLEKHG5):c.1270G>A (p.Gly424Ser) rs1366436495
NM_020631.5(PLEKHG5):c.1280T>C (p.Met427Thr) rs754678569
NM_020631.5(PLEKHG5):c.1286G>C (p.Gly429Ala) rs1304686030
NM_020631.5(PLEKHG5):c.1295T>C (p.Phe432Ser) rs1384133118
NM_020631.5(PLEKHG5):c.1304A>G (p.Tyr435Cys) rs1569857188
NM_020631.5(PLEKHG5):c.1346T>C (p.Met449Thr) rs1553174146
NM_020631.5(PLEKHG5):c.1360C>T (p.Arg454Cys) rs200086651
NM_020631.5(PLEKHG5):c.1379G>A (p.Arg460Gln) rs1309731055
NM_020631.5(PLEKHG5):c.1396G>C (p.Ala466Pro) rs757292650
NM_020631.5(PLEKHG5):c.1414T>G (p.Cys472Gly) rs1382976948
NM_020631.5(PLEKHG5):c.148G>C (p.Gly50Arg) rs779791612
NM_020631.5(PLEKHG5):c.1507G>C (p.Glu503Gln) rs868161574
NM_020631.5(PLEKHG5):c.1510G>A (p.Glu504Lys) rs552364487
NM_020631.5(PLEKHG5):c.1513C>T (p.Pro505Ser) rs530846615
NM_020631.5(PLEKHG5):c.1514C>T (p.Pro505Leu) rs770934745
NM_020631.5(PLEKHG5):c.1519G>A (p.Ala507Thr) rs868002197
NM_020631.5(PLEKHG5):c.1535T>A (p.Val512Asp) rs548243654
NM_020631.5(PLEKHG5):c.1552G>A (p.Val518Met) rs377602965
NM_020631.5(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) rs1557739505
NM_020631.5(PLEKHG5):c.1610G>A (p.Arg537Gln) rs1322468026
NM_020631.5(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061
NM_020631.5(PLEKHG5):c.161G>A (p.Ser54Asn) rs376703933
NM_020631.5(PLEKHG5):c.1681-27_1681-3dup rs748372368
NM_020631.5(PLEKHG5):c.1681-9C>G rs373133607
NM_020631.5(PLEKHG5):c.168C>T (p.Gly56=) rs1366828227
NM_020631.5(PLEKHG5):c.1697T>A (p.Leu566Gln) rs376513313
NM_020631.5(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225
NM_020631.5(PLEKHG5):c.1729G>A (p.Ala577Thr) rs143545780
NM_020631.5(PLEKHG5):c.1736C>T (p.Pro579Leu) rs757727499
NM_020631.5(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001
NM_020631.5(PLEKHG5):c.1783G>C (p.Glu595Gln) rs140597591
NM_020631.5(PLEKHG5):c.1804G>A (p.Asp602Asn) rs1557738049
NM_020631.5(PLEKHG5):c.1840G>C (p.Val614Leu) rs752514480
NM_020631.5(PLEKHG5):c.1988C>T (p.Thr663Met) rs397515456
NM_020631.5(PLEKHG5):c.2017C>T (p.Arg673Cys) rs747057331
NM_020631.5(PLEKHG5):c.2042A>G (p.Asn681Ser) rs936501984
NM_020631.5(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621
NM_020631.5(PLEKHG5):c.2138A>C (p.Glu713Ala) rs1241363420
NM_020631.5(PLEKHG5):c.2145_2147GGA[10] (p.Glu722_Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.2145_2147GGA[9] (p.Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.2156_2157insAGA (p.Glu723dup) rs1553173388
NM_020631.5(PLEKHG5):c.2160_2163delinsA (p.Glu723del) rs386628081
NM_020631.5(PLEKHG5):c.2212A>G (p.Met738Val) rs778686532
NM_020631.5(PLEKHG5):c.2213T>A (p.Met738Lys) rs1305950436
NM_020631.5(PLEKHG5):c.2215C>T (p.Arg739Trp) rs189468475
NM_020631.5(PLEKHG5):c.2227G>A (p.Gly743Ser) rs145073653
NM_020631.5(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_020631.5(PLEKHG5):c.2244G>C (p.Gln748His) rs1569839599
NM_020631.5(PLEKHG5):c.2268G>A (p.Thr756=) rs757831916
NM_020631.5(PLEKHG5):c.2279C>T (p.Ala760Val) rs1569836518
NM_020631.5(PLEKHG5):c.2306C>T (p.Thr769Met) rs1000775772
NM_020631.5(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922
NM_020631.5(PLEKHG5):c.2411C>T (p.Pro804Leu) rs1400722803
NM_020631.5(PLEKHG5):c.2420C>T (p.Pro807Leu) rs371547045
NM_020631.5(PLEKHG5):c.2421G>A (p.Pro807=) rs767407997
NM_020631.5(PLEKHG5):c.2428G>T (p.Gly810Cys) rs76625876
NM_020631.5(PLEKHG5):c.2431C>T (p.Arg811Cys) rs538561788
NM_020631.5(PLEKHG5):c.2432G>A (p.Arg811His) rs891527256
NM_020631.5(PLEKHG5):c.2435C>T (p.Ser812Phe) rs145009237
NM_020631.5(PLEKHG5):c.2438G>A (p.Cys813Tyr) rs771230935
NM_020631.5(PLEKHG5):c.2489T>C (p.Phe830Ser) rs764007395
NM_020631.5(PLEKHG5):c.2506A>G (p.Met836Val) rs752621606
NM_020631.5(PLEKHG5):c.2524C>T (p.Arg842Trp) rs770870023
NM_020631.5(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441
NM_020631.5(PLEKHG5):c.2543G>A (p.Arg848Gln) rs761000380
NM_020631.5(PLEKHG5):c.2564C>T (p.Ser855Leu) rs768995193
NM_020631.5(PLEKHG5):c.2575C>T (p.Arg859Cys) rs150666859
NM_020631.5(PLEKHG5):c.2578C>T (p.Arg860Cys) rs557256913
NM_020631.5(PLEKHG5):c.2609C>T (p.Pro870Leu) rs772693344
NM_020631.5(PLEKHG5):c.2664G>T (p.Gly888=) rs1569832075
NM_020631.5(PLEKHG5):c.2683C>G (p.Pro895Ala) rs753662166
NM_020631.5(PLEKHG5):c.2698C>T (p.Arg900Cys) rs750132016
NM_020631.5(PLEKHG5):c.2713C>T (p.Leu905Phe) rs774696513
NM_020631.5(PLEKHG5):c.2720T>C (p.Leu907Pro) rs764378556
NM_020631.5(PLEKHG5):c.2728C>T (p.Pro910Ser) rs1334075760
NM_020631.5(PLEKHG5):c.2746A>C (p.Thr916Pro) rs187886272
NM_020631.5(PLEKHG5):c.274G>A (p.Val92Ile) rs371516662
NM_020631.5(PLEKHG5):c.2789G>A (p.Arg930Gln) rs376237905
NM_020631.5(PLEKHG5):c.2789G>T (p.Arg930Leu) rs376237905
NM_020631.5(PLEKHG5):c.2827G>A (p.Gly943Ser) rs114619322
NM_020631.5(PLEKHG5):c.2837C>T (p.Ala946Val) rs751158651
NM_020631.5(PLEKHG5):c.2864A>G (p.Lys955Arg) rs771066341
NM_020631.5(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688
NM_020631.5(PLEKHG5):c.286_288AAG[2] (p.Lys98del) rs781153386
NM_020631.5(PLEKHG5):c.2886G>A (p.Ser962=) rs749015188
NM_020631.5(PLEKHG5):c.2932G>C (p.Ala978Pro) rs368905339
NM_020631.5(PLEKHG5):c.2933C>T (p.Ala978Val) rs150133974
NM_020631.5(PLEKHG5):c.2975G>A (p.Arg992Lys) rs750720112
NM_020631.5(PLEKHG5):c.2999C>T (p.Thr1000Met) rs781065380
NM_020631.5(PLEKHG5):c.3011+6T>C rs1569827097
NM_020631.5(PLEKHG5):c.302+6G>A rs1553175409
NM_020631.5(PLEKHG5):c.307G>T (p.Val103Leu) rs141032388
NM_020631.5(PLEKHG5):c.34C>T (p.Pro12Ser) rs140687324
NM_020631.5(PLEKHG5):c.38C>T (p.Pro13Leu) rs776271244
NM_020631.5(PLEKHG5):c.395C>T (p.Thr132Ile) rs761640668
NM_020631.5(PLEKHG5):c.412T>C (p.Phe138Leu) rs1302453044
NM_020631.5(PLEKHG5):c.415G>C (p.Gly139Arg) rs769529781
NM_020631.5(PLEKHG5):c.430C>T (p.Arg144Cys) rs778272514
NM_020631.5(PLEKHG5):c.431G>A (p.Arg144His) rs150152888
NM_020631.5(PLEKHG5):c.47C>G (p.Ser16Cys) rs201090415
NM_020631.5(PLEKHG5):c.495G>C (p.Lys165Asn) rs150772386
NM_020631.5(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760
NM_020631.5(PLEKHG5):c.541G>A (p.Ala181Thr) rs527341275
NM_020631.5(PLEKHG5):c.569G>A (p.Arg190His) rs770010475
NM_020631.5(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624
NM_020631.5(PLEKHG5):c.572G>A (p.Arg191Gln) rs541234129
NM_020631.5(PLEKHG5):c.586A>G (p.Ile196Val) rs1159602956
NM_020631.5(PLEKHG5):c.59G>A (p.Arg20Gln) rs1259066437
NM_020631.5(PLEKHG5):c.607C>T (p.Arg203Cys) rs1315441735
NM_020631.5(PLEKHG5):c.620C>T (p.Ser207Leu) rs572530276
NM_020631.5(PLEKHG5):c.638C>T (p.Ala213Val) rs367543633
NM_020631.5(PLEKHG5):c.707C>T (p.Thr236Ile) rs1180691543
NM_020631.5(PLEKHG5):c.718G>A (p.Asp240Asn) rs765882140
NM_020631.5(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578
NM_020631.5(PLEKHG5):c.73C>T (p.Arg25Trp) rs377503203
NM_020631.5(PLEKHG5):c.745C>T (p.Arg249Cys) rs1436222408
NM_020631.5(PLEKHG5):c.74G>C (p.Arg25Pro) rs1201574261
NM_020631.5(PLEKHG5):c.767C>T (p.Ser256Phe) rs376782083
NM_020631.5(PLEKHG5):c.784G>C (p.Ala262Pro) rs550362834
NM_020631.5(PLEKHG5):c.793C>T (p.Arg265Trp) rs879253921
NM_020631.5(PLEKHG5):c.80G>A (p.Cys27Tyr) rs1569889912
NM_020631.5(PLEKHG5):c.823G>A (p.Gly275Ser) rs201267486
NM_020631.5(PLEKHG5):c.82C>T (p.Pro28Ser) rs373539850
NM_020631.5(PLEKHG5):c.83C>T (p.Pro28Leu) rs143585428
NM_020631.5(PLEKHG5):c.865C>T (p.Pro289Ser) rs373198302
NM_020631.5(PLEKHG5):c.86C>T (p.Pro29Leu) rs998963899
NM_020631.5(PLEKHG5):c.877C>T (p.Arg293Cys) rs374645103
NM_020631.5(PLEKHG5):c.89G>A (p.Arg30His) rs199745947
NM_020631.5(PLEKHG5):c.916G>A (p.Asp306Asn) rs781614887
NM_020631.5(PLEKHG5):c.931A>C (p.Asn311His) rs146020517
NM_020631.5(PLEKHG5):c.971T>C (p.Ile324Thr) rs746862312
NM_020631.5(PLEKHG5):c.995G>A (p.Arg332Gln) rs769390222
NM_020631.5(PLEKHG5):c.997C>T (p.Arg333Trp) rs148232621
NM_020631.5(PLEKHG5):c.998G>A (p.Arg333Gln) rs759306471
NM_020631.6(PLEKHG5):c.1067G>A (p.Arg356Gln)
NM_020631.6(PLEKHG5):c.1118G>A (p.Gly373Glu)
NM_020631.6(PLEKHG5):c.112GAG[9] (p.Glu41_Glu43dup)
NM_020631.6(PLEKHG5):c.1131+5G>T
NM_020631.6(PLEKHG5):c.1251G>T (p.Gln417His)
NM_020631.6(PLEKHG5):c.1345A>G (p.Met449Val)
NM_020631.6(PLEKHG5):c.1421G>T (p.Arg474Met)
NM_020631.6(PLEKHG5):c.1469A>T (p.Lys490Met)
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr)
NM_020631.6(PLEKHG5):c.1537G>T (p.Ala513Ser)
NM_020631.6(PLEKHG5):c.1604G>A (p.Arg535Gln)
NM_020631.6(PLEKHG5):c.1681-3C>T
NM_020631.6(PLEKHG5):c.1715C>T (p.Ala572Val)
NM_020631.6(PLEKHG5):c.1725T>A (p.Pro575=)
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys) rs267598690
NM_020631.6(PLEKHG5):c.1897G>A (p.Val633Met)
NM_020631.6(PLEKHG5):c.1966C>T (p.His656Tyr)
NM_020631.6(PLEKHG5):c.1979G>A (p.Gly660Glu)
NM_020631.6(PLEKHG5):c.2068C>T (p.Arg690Cys)
NM_020631.6(PLEKHG5):c.211-3C>T
NM_020631.6(PLEKHG5):c.2149G>A (p.Glu717Lys)
NM_020631.6(PLEKHG5):c.2161G>A (p.Glu721Lys)
NM_020631.6(PLEKHG5):c.2163G>T (p.Glu721Asp)
NM_020631.6(PLEKHG5):c.2209A>G (p.Ile737Val)
NM_020631.6(PLEKHG5):c.2228G>C (p.Gly743Ala)
NM_020631.6(PLEKHG5):c.2419C>T (p.Pro807Ser)
NM_020631.6(PLEKHG5):c.2473A>G (p.Thr825Ala)
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys)
NM_020631.6(PLEKHG5):c.259A>T (p.Ile87Phe)
NM_020631.6(PLEKHG5):c.2642G>A (p.Ser881Asn)
NM_020631.6(PLEKHG5):c.269A>G (p.Glu90Gly)
NM_020631.6(PLEKHG5):c.271A>T (p.Ile91Phe)
NM_020631.6(PLEKHG5):c.2744G>A (p.Arg915Lys)
NM_020631.6(PLEKHG5):c.2759C>T (p.Pro920Leu)
NM_020631.6(PLEKHG5):c.2791G>C (p.Gly931Arg)
NM_020631.6(PLEKHG5):c.2812G>A (p.Gly938Ser)
NM_020631.6(PLEKHG5):c.2879T>G (p.Leu960Arg)
NM_020631.6(PLEKHG5):c.2968C>T (p.Arg990Ter)
NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln)
NM_020631.6(PLEKHG5):c.2989C>G (p.Leu997Val)
NM_020631.6(PLEKHG5):c.400G>A (p.Glu134Lys)
NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser)
NM_020631.6(PLEKHG5):c.422A>G (p.His141Arg)
NM_020631.6(PLEKHG5):c.509C>A (p.Pro170Gln)
NM_020631.6(PLEKHG5):c.517C>G (p.Arg173Gly)
NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp)
NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala)
NM_020631.6(PLEKHG5):c.550C>T (p.Arg184Cys)
NM_020631.6(PLEKHG5):c.565A>G (p.Ser189Gly)
NM_020631.6(PLEKHG5):c.568C>T (p.Arg190Cys)
NM_020631.6(PLEKHG5):c.58C>T (p.Arg20Trp)
NM_020631.6(PLEKHG5):c.608G>A (p.Arg203His)
NM_020631.6(PLEKHG5):c.654G>C (p.Gln218His)
NM_020631.6(PLEKHG5):c.701G>C (p.Gly234Ala)
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly)
NM_020631.6(PLEKHG5):c.903_923del (p.Glu301_Glu307del)
NM_020631.6(PLEKHG5):c.917A>G (p.Asp306Gly)
NM_020631.6(PLEKHG5):c.91A>G (p.Thr31Ala)
NM_020631.6(PLEKHG5):c.951G>C (p.Glu317Asp)
NM_020631.6(PLEKHG5):c.961C>T (p.Arg321Trp)
NM_020956.2(PRX):c.*1020C>T rs747384252
NM_020956.2(PRX):c.*1038C>T rs886054440
NM_020956.2(PRX):c.*1044C>T rs557355077
NM_020956.2(PRX):c.*1052G>A rs535087433
NM_020956.2(PRX):c.*1053T>G rs776556523
NM_020956.2(PRX):c.*1127A>G rs753330520
NM_020956.2(PRX):c.*1151G>C rs1555801306
NM_020956.2(PRX):c.*1197C>T rs566629777
NM_020956.2(PRX):c.*1199A>G rs143710873
NM_020956.2(PRX):c.*1218C>T rs1368840723
NM_020956.2(PRX):c.*1224C>T rs780373582
NM_020956.2(PRX):c.*1245G>A rs141288626
NM_020956.2(PRX):c.*1296G>A rs561482109
NM_020956.2(PRX):c.*1305C>A rs143400291
NM_020956.2(PRX):c.*1346A>C rs1049349860
NM_020956.2(PRX):c.*1349C>G rs759440986
NM_020956.2(PRX):c.*1416G>A rs146948818
NM_020956.2(PRX):c.*1427C>T rs150244426
NM_020956.2(PRX):c.*1460A>T rs766358380
NM_020956.2(PRX):c.*1574G>C rs142064826
NM_020956.2(PRX):c.*1592G>T rs764004836
NM_020956.2(PRX):c.*1596G>A rs553211374
NM_020956.2(PRX):c.*1665C>T rs778936443
NM_020956.2(PRX):c.*1688_*1765del rs1555801137
NM_020956.2(PRX):c.*1715C>T rs192607896
NM_020956.2(PRX):c.*1743C>T rs148742209
NM_020956.2(PRX):c.*1751C>T rs144305922
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.*1783_*1806dup rs764208864
NM_020956.2(PRX):c.*1790A>G rs767098112
NM_020956.2(PRX):c.*1818T>C rs765791679
NM_020956.2(PRX):c.*1863A>G rs879254301
NM_020956.2(PRX):c.*1871_*1948del rs1599654291
NM_020956.2(PRX):c.*1919G>A rs370979792
NM_020956.2(PRX):c.*1923A>G rs1289149165
NM_020956.2(PRX):c.*1995A>G rs746698242
NM_020956.2(PRX):c.*2018C>T rs1555801070
NM_020956.2(PRX):c.*2033G>A rs537664679
NM_020956.2(PRX):c.*2042G>A rs773222045
NM_020956.2(PRX):c.*2103A>T rs1599654002
NM_020956.2(PRX):c.*2105_*2119del rs575492732
NM_020956.2(PRX):c.*2111C>T rs756785716
NM_020956.2(PRX):c.*2156G>A rs3814290
NM_020956.2(PRX):c.*2170G>A rs186171971
NM_020956.2(PRX):c.*2184C>T rs748737580
NM_020956.2(PRX):c.*2204C>G rs1599653741
NM_020956.2(PRX):c.*2238T>C rs1568706919
NM_020956.2(PRX):c.*2241G>A rs145856805
NM_020956.2(PRX):c.*2261C>A rs374232032
NM_020956.2(PRX):c.*2282C>G rs758696889
NM_020956.2(PRX):c.*2339C>T rs1463490551
NM_020956.2(PRX):c.*2363C>T rs1599653417
NM_020956.2(PRX):c.*2369A>G rs376309142
NM_020956.2(PRX):c.*2414G>A rs1237761863
NM_020956.2(PRX):c.*2420G>A rs779294844
NM_020956.2(PRX):c.*2426C>T rs1599653314
NM_020956.2(PRX):c.*2448C>T rs111252437
NM_020956.2(PRX):c.*2487C>T rs530370432
NM_020956.2(PRX):c.*2490A>G rs202165534
NM_020956.2(PRX):c.*2498G>A rs541455813
NM_020956.2(PRX):c.*2498G>T rs541455813
NM_020956.2(PRX):c.*2501G>A rs763619423
NM_020956.2(PRX):c.*2516G>C rs1568706134
NM_020956.2(PRX):c.*2558A>G rs780270731
NM_020956.2(PRX):c.*2645T>C rs201809431
NM_020956.2(PRX):c.*2654C>T rs147441856
NM_020956.2(PRX):c.*2669G>A rs772009400
NM_020956.2(PRX):c.*2739C>T rs750952608
NM_020956.2(PRX):c.*2753C>G rs141686828
NM_020956.2(PRX):c.*2778A>G rs1017754371
NM_020956.2(PRX):c.*2810G>A rs1555800819
NM_020956.2(PRX):c.*2825G>A rs145790961
NM_020956.2(PRX):c.*2846C>T rs375201649
NM_020956.2(PRX):c.*2856G>A rs139005780
NM_020956.2(PRX):c.*2882G>A rs201270794
NM_020956.2(PRX):c.*2895G>A rs752531623
NM_020956.2(PRX):c.*2933G>A rs145203783
NM_020956.2(PRX):c.*2936G>A rs377457671
NM_020956.2(PRX):c.*3021C>G rs761769929
NM_020956.2(PRX):c.*3024G>A rs1322545345
NM_020956.2(PRX):c.*3059G>C rs1060502972
NM_020956.2(PRX):c.*3081T>C rs1568704784
NM_020956.2(PRX):c.*3114G>A rs764162630
NM_020956.2(PRX):c.*3126_*3146del rs748965299
NM_020956.2(PRX):c.*3182A>T rs1234629496
NM_020956.2(PRX):c.*3204C>T rs765924621
NM_020956.2(PRX):c.*3216C>T rs996865233
NM_020956.2(PRX):c.*3242G>A rs548086012
NM_020956.2(PRX):c.*3246T>C rs766119564
NM_020956.2(PRX):c.*3299G>A rs772431799
NM_020956.2(PRX):c.*3391G>T rs139188673
NM_020956.2(PRX):c.*3395C>T rs937051533
NM_020956.2(PRX):c.*3414G>A rs146222815
NM_020956.2(PRX):c.*3443C>T rs200045096
NM_020956.2(PRX):c.*3476G>A rs368459753
NM_020956.2(PRX):c.*3551G>T rs148075077
NM_020956.2(PRX):c.*3557G>A rs143654708
NM_020956.2(PRX):c.*3557G>T rs143654708
NM_020956.2(PRX):c.*3581C>A rs1483705612
NM_020956.2(PRX):c.*3605G>T rs786204203
NM_020956.2(PRX):c.*3621A>G rs1268527552
NM_020956.2(PRX):c.*3623G>A rs1599651064
NM_020956.2(PRX):c.*3624A>T rs923473427
NM_020956.2(PRX):c.*3652C>T rs1599651000
NM_020956.2(PRX):c.*3713G>A rs759410504
NM_020956.2(PRX):c.*3767C>A rs878855284
NM_020956.2(PRX):c.*3767C>T rs878855284
NM_020956.2(PRX):c.*3785C>G rs149732789
NM_020956.2(PRX):c.*3788C>T rs1555800544
NM_020956.2(PRX):c.*3861C>T rs201393544
NM_020956.2(PRX):c.*3912C>T rs142501082
NM_020956.2(PRX):c.*3922C>T rs764955913
NM_020956.2(PRX):c.*3927G>A rs139120811
NM_020956.2(PRX):c.*3974G>A rs200332462
NM_020956.2(PRX):c.*3980G>A rs751742049
NM_020956.2(PRX):c.*4007G>A rs146061247
NM_020956.2(PRX):c.*4040G>C rs747247972
NM_020956.2(PRX):c.*4050C>T rs753530396
NM_020956.2(PRX):c.*4058G>A rs374370759
NM_020956.2(PRX):c.*4068A>T rs1568702462
NM_020956.2(PRX):c.*4073G>T rs773955274
NM_020956.2(PRX):c.*4091G>C rs769014032
NM_020956.2(PRX):c.*4124C>T rs752593001
NM_020956.2(PRX):c.*4140G>T rs764644013
NM_020956.2(PRX):c.*4209G>A rs1384489319
NM_020956.2(PRX):c.*4222C>A rs758057597
NM_020956.2(PRX):c.*4263A>C rs1555800424
NM_020956.2(PRX):c.*4313C>A rs371438221
NM_020956.2(PRX):c.*4314G>A rs756687548
NM_020956.2(PRX):c.*4317G>A rs377009047
NM_020956.2(PRX):c.*4320G>T rs751906783
NM_020956.2(PRX):c.*4322C>T rs766729202
NM_020956.2(PRX):c.*4323G>A rs763294661
NM_020956.2(PRX):c.*4326T>G rs773512610
NM_020956.2(PRX):c.*4334C>T rs768524850
NM_020956.2(PRX):c.*4335G>A rs200835105
NM_020956.2(PRX):c.*4343C>T rs771840476
NM_020956.2(PRX):c.*4362C>A rs372582520
NM_020956.2(PRX):c.*4376C>G rs369072136
NM_020956.2(PRX):c.*4376C>T rs369072136
NM_020956.2(PRX):c.*4401C>T rs764183288
NM_020956.2(PRX):c.*4412G>A rs139051512
NM_020956.2(PRX):c.*4424T>G rs146468976
NM_020956.2(PRX):c.*4436C>T rs533966999
NM_020956.2(PRX):c.*4437G>T rs1005254872
NM_020956.2(PRX):c.*4470G>A rs142436702
NM_020956.2(PRX):c.*4475G>A rs754032938
NM_020956.2(PRX):c.*4475G>C rs754032938
NM_020956.2(PRX):c.*4506G>A rs759435622
NM_020956.2(PRX):c.*4509T>C rs878855285
NM_020956.2(PRX):c.*4512G>A rs368827070
NM_020956.2(PRX):c.*4523G>A rs138437458
NM_020956.2(PRX):c.*4538A>G rs368067072
NM_020956.2(PRX):c.*4554C>T rs369949312
NM_020956.2(PRX):c.*4571G>C rs149093940
NM_020956.2(PRX):c.*662C>T rs760295364
NM_020956.2(PRX):c.*666T>C rs1555801518
NM_020956.2(PRX):c.*674G>A rs149219327
NM_020956.2(PRX):c.*683_*697del rs1555801508
NM_020956.2(PRX):c.*690A>C rs879254072
NM_020956.2(PRX):c.*705G>A rs757322355
NM_020956.2(PRX):c.*705G>C rs757322355
NM_020956.2(PRX):c.*707C>T rs374193988
NM_020956.2(PRX):c.*708G>A rs763833871
NM_020956.2(PRX):c.*714T>C rs1387520113
NM_020956.2(PRX):c.*764C>T rs768929130
NM_020956.2(PRX):c.*792G>C rs757381967
NM_020956.2(PRX):c.*820_*821delinsTT rs1568709522
NM_020956.2(PRX):c.*833G>A rs775981300
NM_020956.2(PRX):c.*836G>T rs112973322
NM_020956.2(PRX):c.*839C>A rs771156102
NM_020956.2(PRX):c.*846C>G rs368874138
NM_020956.2(PRX):c.*878G>T rs754734195
NM_020956.2(PRX):c.*887C>G rs751238438
NM_020956.2(PRX):c.*887C>T rs751238438
NM_020956.2(PRX):c.*923C>T rs199863083
NM_020956.2(PRX):c.*932G>A rs774726424
NM_020956.2(PRX):c.*935G>A rs771211272
NM_020956.2(PRX):c.*945G>A rs1568709200
NM_020956.2(PRX):c.13A>G (p.Ser5Gly) rs767350599
NM_020956.2(PRX):c.15C>G (p.Ser5Arg) rs1408677034
NM_020956.2(PRX):c.176T>C (p.Leu59Pro) rs748318191
NM_020956.2(PRX):c.200G>A (p.Ser67Asn) rs1568710768
NM_020956.2(PRX):c.248T>G (p.Leu83Arg) rs1599657876
NM_020956.2(PRX):c.256T>C (p.Cys86Arg) rs765676916
NM_020956.2(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_020956.2(PRX):c.296C>T (p.Thr99Ile) rs561203828
NM_020956.2(PRX):c.335T>C (p.Val112Ala) rs760944190
NM_020956.2(PRX):c.361C>T (p.Arg121Trp) rs750435566
NM_020956.2(PRX):c.62T>C (p.Val21Ala) rs1167676481
NM_020956.2(PRX):c.74C>A (p.Ala25Glu) rs1555802182
NM_020956.2(PRX):c.80C>A (p.Thr27Asn) rs1291881750
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_021629.4(GNB4):c.107A>T (p.Asn36Ile) rs1577031106
NM_021629.4(GNB4):c.136C>T (p.Arg46Ter)
NM_021629.4(GNB4):c.137G>A (p.Arg46Gln)
NM_021629.4(GNB4):c.16C>G (p.Gln6Glu) rs1163990709
NM_021629.4(GNB4):c.196G>A (p.Asp66Asn) rs864622729
NM_021629.4(GNB4):c.204-2A>G
NM_021629.4(GNB4):c.204-6C>G
NM_021629.4(GNB4):c.227A>G (p.Asp76Gly)
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021629.4(GNB4):c.334G>A (p.Val112Ile)
NM_021629.4(GNB4):c.429A>G (p.Thr143=) rs1577029046
NM_021629.4(GNB4):c.442T>A (p.Cys148Ser)
NM_021629.4(GNB4):c.44G>A (p.Arg15Gln) rs138187021
NM_021629.4(GNB4):c.491C>A (p.Thr164Lys)
NM_021629.4(GNB4):c.574T>G (p.Leu192Val) rs556759178
NM_021629.4(GNB4):c.592A>T (p.Thr198Ser)
NM_021629.4(GNB4):c.596T>A (p.Phe199Tyr) rs760894139
NM_021629.4(GNB4):c.598G>A (p.Val200Ile) rs775578986
NM_021629.4(GNB4):c.630A>T (p.Leu210Phe)
NM_021629.4(GNB4):c.640C>T (p.Arg214Ter)
NM_021629.4(GNB4):c.645T>G (p.Asp215Glu)
NM_021629.4(GNB4):c.700-3T>C rs199620294
NM_021629.4(GNB4):c.709A>C (p.Asn237His)
NM_021629.4(GNB4):c.714A>G (p.Gly238=) rs1433615086
NM_021629.4(GNB4):c.733T>A (p.Ser245Thr)
NM_021629.4(GNB4):c.759T>G (p.Phe253Leu) rs368061934
NM_021629.4(GNB4):c.766C>T (p.Arg256Cys)
NM_021629.4(GNB4):c.783_785ATT[1] (p.Leu263del) rs771274313
NM_021629.4(GNB4):c.799G>A (p.Asp267Asn) rs752762550
NM_021629.4(GNB4):c.7G>A (p.Glu3Lys)
NM_021629.4(GNB4):c.826G>A (p.Val276Ile)
NM_021629.4(GNB4):c.848G>C (p.Arg283Pro) rs186593898
NM_021629.4(GNB4):c.853T>G (p.Leu285Val) rs554623238
NM_021629.4(GNB4):c.86C>T (p.Thr29Met) rs762114369
NM_021629.4(GNB4):c.896C>T (p.Thr299Met)
NM_021629.4(GNB4):c.903A>T (p.Lys301Asn) rs1167931862
NM_021629.4(GNB4):c.908A>C (p.Asp303Ala) rs1020090528
NM_021629.4(GNB4):c.910C>T (p.Arg304Cys) rs201776673
NM_021629.4(GNB4):c.911G>A (p.Arg304His) rs771664047
NM_021629.4(GNB4):c.923T>C (p.Leu308Pro) rs1168008697
NM_021629.4(GNB4):c.927T>A (p.Ala309=)
NM_021629.4(GNB4):c.939_940del (p.Asn313fs) rs1560208074
NM_021629.4(GNB4):c.95A>G (p.Gln32Arg)
NM_022489.4(INF2):c.1053C>A (p.Ser351Arg)
NM_022489.4(INF2):c.1067C>T (p.Ala356Val) rs375622503
NM_022489.4(INF2):c.1105A>G (p.Arg369Gly)
NM_022489.4(INF2):c.1118C>T (p.Pro373Leu)
NM_022489.4(INF2):c.1139A>G (p.Lys380Arg)
NM_022489.4(INF2):c.1147G>A (p.Val383Met) rs780689756
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys) rs374769850
NM_022489.4(INF2):c.1186C>G (p.Pro396Ala) rs1416561484
NM_022489.4(INF2):c.1189G>A (p.Val397Met) rs771775245
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly)
NM_022489.4(INF2):c.1210A>G (p.Ser404Gly)
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser)
NM_022489.4(INF2):c.1268C>T (p.Pro423Leu)
NM_022489.4(INF2):c.1276C>T (p.Pro426Ser) rs766635668
NM_022489.4(INF2):c.1279C>A (p.Pro427Thr)
NM_022489.4(INF2):c.1289_1339del (p.Leu430_Leu446del)
NM_022489.4(INF2):c.1304C>T (p.Ala435Val) rs777455096
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu) rs746697423
NM_022489.4(INF2):c.1336dup (p.Leu446fs) rs1278804782
NM_022489.4(INF2):c.1348G>C (p.Gly450Arg)
NM_022489.4(INF2):c.1360C>T (p.Leu454Phe) rs545495465
NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del)
NM_022489.4(INF2):c.137C>T (p.Ser46Phe)
NM_022489.4(INF2):c.1405A>G (p.Met469Val)
NM_022489.4(INF2):c.1409C>A (p.Ala470Asp) rs1166010216
NM_022489.4(INF2):c.1423C>G (p.Pro475Ala) rs1271375014
NM_022489.4(INF2):c.1447T>G (p.Ser483Ala)
NM_022489.4(INF2):c.1485G>A (p.Pro495=) rs780642540
NM_022489.4(INF2):c.1488C>T (p.Gly496=)
NM_022489.4(INF2):c.148T>G (p.Tyr50Asp) rs1555373261
NM_022489.4(INF2):c.150C>A (p.Tyr50Ter) rs1555373267
NM_022489.4(INF2):c.1577G>A (p.Cys526Tyr)
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala)
NM_022489.4(INF2):c.1587dup (p.Val530fs) rs748929807
NM_022489.4(INF2):c.1588G>A (p.Val530Met)
NM_022489.4(INF2):c.1593G>A (p.Ala531=) rs186326868
NM_022489.4(INF2):c.1599C>T (p.Gly533=)
NM_022489.4(INF2):c.1625T>C (p.Val542Ala) rs1467920811
NM_022489.4(INF2):c.1734T>G (p.Arg578=)
NM_022489.4(INF2):c.1771G>A (p.Asp591Asn) rs369421697
NM_022489.4(INF2):c.1771G>C (p.Asp591His) rs369421697
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln) rs752971046
NM_022489.4(INF2):c.186C>T (p.Gly62=) rs1555373276
NM_022489.4(INF2):c.1888-8T>G rs889481678
NM_022489.4(INF2):c.188_208del (p.Gly63_Leu69del)
NM_022489.4(INF2):c.1907A>G (p.Lys636Arg) rs761939643
NM_022489.4(INF2):c.1950-3C>A rs777132952
NM_022489.4(INF2):c.1957G>A (p.Glu653Lys) rs368576387
NM_022489.4(INF2):c.1959G>C (p.Glu653Asp) rs1047172155
NM_022489.4(INF2):c.1962G>C (p.Glu654Asp) rs1378876029
NM_022489.4(INF2):c.1966G>A (p.Ala656Thr) rs189559257
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile) rs1279137766
NM_022489.4(INF2):c.2052+3A>G rs1382855956
NM_022489.4(INF2):c.2053A>G (p.Ile685Val) rs199526439
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln) rs372333024
NM_022489.4(INF2):c.2087C>G (p.Ala696Gly) rs769120676
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg)
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys) rs775500020
NM_022489.4(INF2):c.2179G>A (p.Ala727Thr)
NM_022489.4(INF2):c.2180C>T (p.Ala727Val)
NM_022489.4(INF2):c.2185G>A (p.Ala729Thr)
NM_022489.4(INF2):c.2188G>A (p.Val730Met) rs373199310
NM_022489.4(INF2):c.218G>T (p.Gly73Val) rs918089359
NM_022489.4(INF2):c.2204G>A (p.Arg735Gln)
NM_022489.4(INF2):c.221T>G (p.Leu74Arg) rs1566777566
NM_022489.4(INF2):c.2225T>G (p.Leu742Arg) rs1595174468
NM_022489.4(INF2):c.2236G>A (p.Glu746Lys) rs569586169
NM_022489.4(INF2):c.2255G>A (p.Arg752His) rs1450593874
NM_022489.4(INF2):c.230T>C (p.Leu77Pro) rs1595163851
NM_022489.4(INF2):c.2315G>C (p.Ser772Thr)
NM_022489.4(INF2):c.233T>A (p.Leu78Gln)
NM_022489.4(INF2):c.2399T>G (p.Leu800Arg)
NM_022489.4(INF2):c.2410G>A (p.Val804Met)
NM_022489.4(INF2):c.2418+3G>A rs748896420
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn) rs373532334
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln)
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala) rs377340315
NM_022489.4(INF2):c.2489G>T (p.Gly830Val) rs377340315
NM_022489.4(INF2):c.2510G>A (p.Arg837His) rs374697429
NM_022489.4(INF2):c.251T>C (p.Leu84Pro)
NM_022489.4(INF2):c.2538G>T (p.Lys846Asn)
NM_022489.4(INF2):c.2572G>A (p.Val858Met) rs201292830
NM_022489.4(INF2):c.2574G>A (p.Val858=) rs371768502
NM_022489.4(INF2):c.2578G>A (p.Glu860Lys)
NM_022489.4(INF2):c.2596A>G (p.Thr866Ala) rs753660816
NM_022489.4(INF2):c.2603G>A (p.Arg868His) rs369698920
NM_022489.4(INF2):c.2611-3_2766delinsA
NM_022489.4(INF2):c.2629C>T (p.Arg877Trp)
NM_022489.4(INF2):c.262G>A (p.Gly88Ser)
NM_022489.4(INF2):c.2641G>A (p.Glu881Lys) rs1314746427
NM_022489.4(INF2):c.2659G>A (p.Glu887Lys) rs748529803
NM_022489.4(INF2):c.265G>A (p.Val89Ile) rs765566674
NM_022489.4(INF2):c.2671C>T (p.Arg891Trp) rs926222455
NM_022489.4(INF2):c.2672G>A (p.Arg891Gln) rs777498088
NM_022489.4(INF2):c.2683G>A (p.Asp895Asn) rs776314008
NM_022489.4(INF2):c.2693G>T (p.Cys898Phe)
NM_022489.4(INF2):c.271C>G (p.Arg91Gly)
NM_022489.4(INF2):c.2726C>T (p.Thr909Met) rs201336550
NM_022489.4(INF2):c.2755C>G (p.Leu919Val) rs377145979
NM_022489.4(INF2):c.2767G>A (p.Ala923Thr)
NM_022489.4(INF2):c.2767_2773del (p.Ala923fs) rs1566785235
NM_022489.4(INF2):c.2801C>T (p.Ala934Val) rs1001885245
NM_022489.4(INF2):c.2804C>T (p.Ala935Val) rs781494318
NM_022489.4(INF2):c.2812G>A (p.Glu938Lys) rs1595178511
NM_022489.4(INF2):c.2841G>C (p.Glu947Asp)
NM_022489.4(INF2):c.2846C>G (p.Ala949Gly) rs912951002
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp) rs942393807
NM_022489.4(INF2):c.2858G>A (p.Arg953Gln) rs1385146569
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser) rs369417066
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr) rs376067427
NM_022489.4(INF2):c.2905G>A (p.Glu969Lys)
NM_022489.4(INF2):c.2923G>T (p.Ala975Ser)
NM_022489.4(INF2):c.2960G>A (p.Arg987Gln) rs757988412
NM_022489.4(INF2):c.2977C>G (p.Arg993Gly) rs935688609
NM_022489.4(INF2):c.2984A>G (p.Asp995Gly) rs748234626
NM_022489.4(INF2):c.2987C>T (p.Thr996Ile) rs377414980
NM_022489.4(INF2):c.2989G>A (p.Asp997Asn) rs370719592
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg) rs747569209
NM_022489.4(INF2):c.3013A>G (p.Met1005Val)
NM_022489.4(INF2):c.3041-3C>T
NM_022489.4(INF2):c.3053A>G (p.Asn1018Ser)
NM_022489.4(INF2):c.3059C>T (p.Ala1020Val) rs368372551
NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys) rs369987125
NM_022489.4(INF2):c.3083G>A (p.Arg1028His) rs1368908308
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122
NM_022489.4(INF2):c.3104G>A (p.Gly1035Asp) rs751648279
NM_022489.4(INF2):c.3119C>T (p.Thr1040Ile)
NM_022489.4(INF2):c.3126C>T (p.Ser1042=) rs1035033414
NM_022489.4(INF2):c.3127G>A (p.Glu1043Lys) rs958862615
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp) rs780428043
NM_022489.4(INF2):c.3157G>A (p.Val1053Met) rs760721935
NM_022489.4(INF2):c.3170C>G (p.Pro1057Arg)
NM_022489.4(INF2):c.3194A>C (p.Glu1065Ala) rs202244190
NM_022489.4(INF2):c.3205C>T (p.Pro1069Ser)
NM_022489.4(INF2):c.3206C>T (p.Pro1069Leu) rs376139171
NM_022489.4(INF2):c.3206_3207inv (p.Pro1069Leu)
NM_022489.4(INF2):c.3207_3208delinsCT (p.Arg1070Trp)
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys) rs201445955
NM_022489.4(INF2):c.3224G>A (p.Arg1075His) rs370169829
NM_022489.4(INF2):c.3250G>A (p.Asp1084Asn) rs557741807
NM_022489.4(INF2):c.3257T>A (p.Leu1086Gln) rs368869709
NM_022489.4(INF2):c.3260C>T (p.Thr1087Ile) rs371946522
NM_022489.4(INF2):c.3328G>C (p.Ala1110Pro) rs1212327132
NM_022489.4(INF2):c.3365C>T (p.Pro1122Leu)
NM_022489.4(INF2):c.3412C>G (p.Leu1138Val) rs759925463
NM_022489.4(INF2):c.3439A>G (p.Ser1147Gly)
NM_022489.4(INF2):c.3461A>T (p.Asp1154Val)
NM_022489.4(INF2):c.3467T>C (p.Val1156Ala)
NM_022489.4(INF2):c.3472A>G (p.Ser1158Gly)
NM_022489.4(INF2):c.3476G>A (p.Arg1159His) rs200591522
NM_022489.4(INF2):c.34G>A (p.Ala12Thr)
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu)
NM_022489.4(INF2):c.3519_3524CGAGGA[1] (p.1171_1172DE[2]) rs748373029
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) rs778879482
NM_022489.4(INF2):c.3550G>A (p.Ala1184Thr) rs374684004
NM_022489.4(INF2):c.3563C>G (p.Ser1188Cys)
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539
NM_022489.4(INF2):c.3579C>G (p.Phe1193Leu) rs1555375657
NM_022489.4(INF2):c.3583G>A (p.Glu1195Lys)
NM_022489.4(INF2):c.3590C>T (p.Ala1197Val) rs372714774
NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn)
NM_022489.4(INF2):c.3598G>C (p.Asp1200His) rs764338863
NM_022489.4(INF2):c.3605C>T (p.Ser1202Leu) rs751351877
NM_022489.4(INF2):c.3606G>A (p.Ser1202=) rs756383109
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly) rs989477091
NM_022489.4(INF2):c.3631C>T (p.Arg1211Trp) rs374049468
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp) rs200823300
NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs)
NM_022489.4(INF2):c.3648G>A (p.Lys1216=) rs139196357
NM_022489.4(INF2):c.3662G>A (p.Arg1221Gln)
NM_022489.4(INF2):c.3662G>C (p.Arg1221Pro) rs754128326
NM_022489.4(INF2):c.3673C>T (p.Arg1225Cys)
NM_022489.4(INF2):c.3703C>T (p.Pro1235Ser) rs201091360
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs) rs763988639
NM_022489.4(INF2):c.3714T>A (p.Asp1238Glu) rs775075672
NM_022489.4(INF2):c.3727A>G (p.Lys1243Glu)
NM_022489.4(INF2):c.3730A>G (p.Lys1244Glu)
NM_022489.4(INF2):c.3734_3735TG[3] (p.Val1247fs) rs753327806
NM_022489.4(INF2):c.3746A>T (p.Gln1249Leu)
NM_022489.4(INF2):c.397G>A (p.Asp133Asn) rs774135330
NM_022489.4(INF2):c.409G>A (p.Val137Met) rs200713451
NM_022489.4(INF2):c.410T>G (p.Val137Gly) rs760611306
NM_022489.4(INF2):c.427G>A (p.Val143Met) rs1237835000
NM_022489.4(INF2):c.440T>C (p.Leu147Pro) rs1555373588
NM_022489.4(INF2):c.507+6C>T rs749868411
NM_022489.4(INF2):c.554T>C (p.Leu185Pro) rs1555373625
NM_022489.4(INF2):c.565G>A (p.Asp189Asn)
NM_022489.4(INF2):c.580G>A (p.Val194Met)
NM_022489.4(INF2):c.583G>A (p.Val195Ile) rs1595166165
NM_022489.4(INF2):c.583G>T (p.Val195Phe)
NM_022489.4(INF2):c.598G>A (p.Val200Met) rs377272716
NM_022489.4(INF2):c.610G>A (p.Val204Ile) rs1049200069
NM_022489.4(INF2):c.625G>A (p.Glu209Lys) rs1012899025
NM_022489.4(INF2):c.634C>T (p.Arg212Cys) rs748481552
NM_022489.4(INF2):c.638C>T (p.Ala213Val) rs746572452
NM_022489.4(INF2):c.67T>G (p.Ser23Ala)
NM_022489.4(INF2):c.700C>A (p.Arg234=)
NM_022489.4(INF2):c.733C>G (p.Leu245Val) rs765986755
NM_022489.4(INF2):c.740C>T (p.Ala247Val)
NM_022489.4(INF2):c.758_763del (p.Ala253_Glu254del)
NM_022489.4(INF2):c.782G>A (p.Arg261Gln) rs749543418
NM_022489.4(INF2):c.787T>G (p.Ser263Ala) rs1364540701
NM_022489.4(INF2):c.792C>T (p.Gly264=) rs768718406
NM_022489.4(INF2):c.798C>A (p.Val266=)
NM_022489.4(INF2):c.799G>A (p.Asp267Asn) rs772599038
NM_022489.4(INF2):c.850T>C (p.Cys284Arg) rs374935145
NM_022489.4(INF2):c.916C>T (p.Arg306Cys) rs542700662
NM_022489.4(INF2):c.949A>G (p.Ser317Gly) rs762702624
NM_022489.4(INF2):c.967G>A (p.Val323Met) rs761806103
NM_022489.4(INF2):c.986-9C>G
NM_022489.4(INF2):c.997A>G (p.Thr333Ala)
NM_024577.3(SH3TC2):c.1002-5T>A rs769711653
NM_024577.3(SH3TC2):c.101C>A (p.Ala34Asp) rs1444603403
NM_024577.3(SH3TC2):c.1031A>G (p.Glu344Gly) rs753849885
NM_024577.3(SH3TC2):c.1040G>C (p.Cys347Ser) rs1271507097
NM_024577.3(SH3TC2):c.106T>C (p.Ser36Pro) rs1580917049
NM_024577.3(SH3TC2):c.1105C>T (p.Arg369Cys) rs569974719
NM_024577.3(SH3TC2):c.1172T>G (p.Leu391Arg) rs141544031
NM_024577.3(SH3TC2):c.1177+5G>A rs1561765688
NM_024577.3(SH3TC2):c.11G>T (p.Cys4Phe) rs562967549
NM_024577.3(SH3TC2):c.1240G>A (p.Val414Met) rs138303846
NM_024577.3(SH3TC2):c.1244G>T (p.Gly415Val) rs1561765509
NM_024577.3(SH3TC2):c.1260C>A (p.Ser420Arg) rs766814812
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192
NM_024577.3(SH3TC2):c.1319G>A (p.Arg440His) rs755748579
NM_024577.3(SH3TC2):c.1325C>T (p.Pro442Leu) rs370613184
NM_024577.3(SH3TC2):c.1326G>A (p.Pro442=) rs138967360
NM_024577.3(SH3TC2):c.1338C>A (p.Asp446Glu) rs1580901388
NM_024577.3(SH3TC2):c.1342G>C (p.Asp448His) rs587781252
NM_024577.3(SH3TC2):c.1355T>C (p.Leu452Pro) rs1235312791
NM_024577.3(SH3TC2):c.1360A>G (p.Met454Val) rs1554121765
NM_024577.3(SH3TC2):c.1401C>A (p.Phe467Leu) rs150950962
NM_024577.3(SH3TC2):c.1431G>A (p.Glu477=) rs887057321
NM_024577.3(SH3TC2):c.1469_1471del (p.Ser490del) rs755728218
NM_024577.3(SH3TC2):c.1522G>A (p.Val508Met) rs148155691
NM_024577.3(SH3TC2):c.1537G>T (p.Ala513Ser) rs1554121737
NM_024577.3(SH3TC2):c.1585C>T (p.Arg529Cys) rs750529207
NM_024577.3(SH3TC2):c.1597C>T (p.Leu533Phe) rs1554121725
NM_024577.3(SH3TC2):c.1607G>A (p.Arg536Gln) rs369977771
NM_024577.3(SH3TC2):c.164C>T (p.Ser55Phe) rs201291203
NM_024577.3(SH3TC2):c.1651T>C (p.Phe551Leu) rs1554121720
NM_024577.3(SH3TC2):c.1654G>A (p.Glu552Lys) rs551953142
NM_024577.3(SH3TC2):c.1654G>C (p.Glu552Gln) rs551953142
NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser) rs201256776
NM_024577.3(SH3TC2):c.1738C>A (p.Leu580Met) rs1561765207
NM_024577.3(SH3TC2):c.1768G>A (p.Ala590Thr) rs149244124
NM_024577.3(SH3TC2):c.181C>T (p.Arg61Cys) rs773087313
NM_024577.3(SH3TC2):c.1840G>A (p.Asp614Asn) rs201789838
NM_024577.3(SH3TC2):c.1843G>A (p.Val615Met) rs577783066
NM_024577.3(SH3TC2):c.1861C>T (p.Arg621Cys) rs201403149
NM_024577.3(SH3TC2):c.1922G>A (p.Arg641His) rs199991156
NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His) rs138040787
NM_024577.3(SH3TC2):c.200A>G (p.Asn67Ser) rs772378888
NM_024577.3(SH3TC2):c.2017G>A (p.Ala673Thr) rs201985394
NM_024577.3(SH3TC2):c.2023G>A (p.Val675Ile) rs764633604
NM_024577.3(SH3TC2):c.2056C>T (p.Pro686Ser) rs767415595
NM_024577.3(SH3TC2):c.2215A>G (p.Met739Val) rs146707871
NM_024577.3(SH3TC2):c.224G>A (p.Arg75Gln) rs749772988
NM_024577.3(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367