ClinVar Miner

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

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1543
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_33241563)_(46663513_?)dup
NC_000001.11:g.(?_32810591)_(32811057_?)del
NC_000003.12:g.(?_179401193)_(179426220_?)dup
NC_000007.14:g.(?_76302496)_(76304193_?)dup
NC_000009.12:g.(?_127502774)_(127503501_?)del
NC_000011.10:g.(?_68908125)_(68908651_?)del
NC_000012.11:g.(?_32786463)_(32832419_?)dup
NC_000012.12:g.(?_32598477)_(32598606_?)del
NC_000014.8:g.(?_105176405)_(105185180_?)dup
NC_000014.9:g.(?_101925141)_(101964947_?)del
NC_000016.10:g.(?_11549617)_(11556750_?)dup
NC_000019.10:g.(?_10718223)_(10759831_?)dup
NC_000023.11:g.(?_24465436)_(24465581_?)del
NC_000023.11:g.(?_24465436)_(24539184_?)dup
NC_000023.11:g.(?_24494722)_(24539184_?)del
NM_000263.3(NAGLU):c.1090G>T (p.Ala364Ser)
NM_000263.3(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789
NM_000263.3(NAGLU):c.1973A>G (p.Tyr658Cys)
NM_000263.3(NAGLU):c.214_237delGCGGCGCGCGTGCGGGTGCGCGGC (p.Ala72_Gly79del)
NM_000263.3(NAGLU):c.569A>G (p.Asn190Ser)
NM_001005360.2(DNM2):c.1304T>G (p.Leu435Arg) rs1555710681
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala) rs201575500
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val) rs758246840
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)
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.161+3G>A rs1555696272
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met)
NM_001005360.2(DNM2):c.1641C>A (p.Ala547=) rs538253489
NM_001005360.2(DNM2):c.1664_1671+1delATGAGGAGG
NM_001005360.2(DNM2):c.1671+3G>C
NM_001005360.2(DNM2):c.1718G>A (p.Arg573His) rs1555715216
NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn)
NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met) rs372876881
NM_001005360.2(DNM2):c.177C>A (p.Arg59=) rs762795230
NM_001005360.2(DNM2):c.1781+6G>T
NM_001005360.2(DNM2):c.1782-4G>C rs767424969
NM_001005360.2(DNM2):c.1782-7C>A rs200843089
NM_001005360.2(DNM2):c.1952G>A (p.Arg651Gln)
NM_001005360.2(DNM2):c.1969C>T (p.Arg657Cys) rs772920450
NM_001005360.2(DNM2):c.2011A>G (p.Ile671Val)
NM_001005360.2(DNM2):c.2023A>G (p.Met675Val) rs1555716140
NM_001005360.2(DNM2):c.2041C>A (p.His681Asn)
NM_001005360.2(DNM2):c.2105C>T (p.Ser702Leu)
NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr) rs142963320
NM_001005360.2(DNM2):c.2197C>T (p.Leu733Phe)
NM_001005360.2(DNM2):c.2231T>C (p.Val744Ala) rs777609224
NM_001005360.2(DNM2):c.2233T>A (p.Ser745Thr)
NM_001005360.2(DNM2):c.2264C>A (p.Thr755Asn)
NM_001005360.2(DNM2):c.2276G>A (p.Ser759Asn) rs879254300
NM_001005360.2(DNM2):c.2286C>A (p.Ser762Arg)
NM_001005360.2(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005360.2(DNM2):c.2411_2413delTCT (p.Phe804del)
NM_001005360.2(DNM2):c.2452G>A (p.Val818Met) rs755608537
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 (p.Ser848del)
NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp)
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met)
NM_001005360.2(DNM2):c.384C>T (p.His128=)
NM_001005360.2(DNM2):c.481C>A (p.Leu161Met) rs1060503547
NM_001005360.2(DNM2):c.535A>G (p.Met179Val)
NM_001005360.2(DNM2):c.596G>A (p.Arg199Gln)
NM_001005360.2(DNM2):c.689-3C>T rs373330742
NM_001005360.2(DNM2):c.695T>A (p.Ile232Asn) 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.797G>A (p.Arg266Gln)
NM_001005360.2(DNM2):c.800A>G (p.His267Arg)
NM_001005360.2(DNM2):c.811C>T (p.Arg271Cys)
NM_001005360.2(DNM2):c.819C>T (p.Gly273=)
NM_001005360.2(DNM2):c.821C>T (p.Thr274Met) rs746387165
NM_001005360.2(DNM2):c.839C>T (p.Thr280Met) rs202155679
NM_001005360.2(DNM2):c.83A>T (p.His28Leu) rs774962668
NM_001005360.2(DNM2):c.850-7C>G rs778548382
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.934G>A (p.Glu312Lys) rs370636702
NM_001005360.2(DNM2):c.992+4T>C
NM_001130067.1(TRIM2):c.1002G>T (p.Gly334=) rs779795369
NM_001130067.1(TRIM2):c.1013C>G (p.Thr338Ser) rs146686472
NM_001130067.1(TRIM2):c.1268G>A (p.Arg423Gln)
NM_001130067.1(TRIM2):c.1300G>C (p.Val434Leu) rs147859999
NM_001130067.1(TRIM2):c.1544A>G (p.Asn515Ser)
NM_001130067.1(TRIM2):c.1592G>A (p.Gly531Glu) rs1305793582
NM_001130067.1(TRIM2):c.170C>T (p.Thr57Ile) rs745985238
NM_001130067.1(TRIM2):c.1754G>A (p.Arg585His) rs114415780
NM_001130067.1(TRIM2):c.1765A>G (p.Ile589Val)
NM_001130067.1(TRIM2):c.1795G>A (p.Val599Met) rs759524701
NM_001130067.1(TRIM2):c.1883C>A (p.Ala628Glu) rs1554002777
NM_001130067.1(TRIM2):c.1909A>G (p.Ile637Val)
NM_001130067.1(TRIM2):c.2116A>G (p.Ile706Val) rs201921014
NM_001130067.1(TRIM2):c.2139C>G (p.Leu713=)
NM_001130067.1(TRIM2):c.416G>A (p.Arg139Gln) rs146252965
NM_001130067.1(TRIM2):c.431G>C (p.Gly144Ala) rs1553992552
NM_001130067.1(TRIM2):c.578T>C (p.Leu193Ser) rs759938444
NM_001130067.1(TRIM2):c.596G>A (p.Ser199Asn)
NM_001130067.1(TRIM2):c.607G>T (p.Asp203Tyr)
NM_001130067.1(TRIM2):c.675A>C (p.Glu225Asp) rs138228404
NM_001130067.1(TRIM2):c.962C>G (p.Thr321Ser)
NM_001130067.1(TRIM2):c.992C>T (p.Thr331Met)
NM_001142386.2(PDK3):c.1126G>A (p.Ala376Thr)
NM_001142386.2(PDK3):c.160C>T (p.Pro54Ser)
NM_001142386.2(PDK3):c.320+6T>C rs748960946
NM_001142386.2(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_001142386.2(PDK3):c.597delT (p.Asp199Glufs)
NM_001142386.2(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_001376.4(DYNC1H1):c.10291A>G (p.Asn3431Asp) rs1315999225
NM_001376.4(DYNC1H1):c.10315G>A (p.Asp3439Asn)
NM_001376.4(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322
NM_001376.4(DYNC1H1):c.10627-6T>C rs1555411461
NM_001376.4(DYNC1H1):c.10661C>T (p.Ser3554Phe)
NM_001376.4(DYNC1H1):c.10682G>A (p.Arg3561His) rs1064796932
NM_001376.4(DYNC1H1):c.10743A>C (p.Lys3581Asn) rs768668529
NM_001376.4(DYNC1H1):c.10750A>G (p.Asn3584Asp) rs1332342693
NM_001376.4(DYNC1H1):c.1120A>G (p.Ile374Val) rs771355909
NM_001376.4(DYNC1H1):c.11460+4G>A rs201518717
NM_001376.4(DYNC1H1):c.11520A>G (p.Leu3840=) rs369351359
NM_001376.4(DYNC1H1):c.1165A>G (p.Ser389Gly) rs1239478672
NM_001376.4(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.4(DYNC1H1):c.12112A>C (p.Asn4038His) rs1271427633
NM_001376.4(DYNC1H1):c.12423G>A (p.Ala4141=) rs757449756
NM_001376.4(DYNC1H1):c.12485G>T (p.Ser4162Ile) rs754437318
NM_001376.4(DYNC1H1):c.12496G>A (p.Val4166Ile)
NM_001376.4(DYNC1H1):c.12514-3C>T rs761866611
NM_001376.4(DYNC1H1):c.12584G>A (p.Arg4195Gln) rs140013253
NM_001376.4(DYNC1H1):c.12677C>G (p.Thr4226Arg)
NM_001376.4(DYNC1H1):c.12869G>A (p.Gly4290Glu) rs1555412242
NM_001376.4(DYNC1H1):c.12950C>T (p.Thr4317Met) rs774296708
NM_001376.4(DYNC1H1):c.13024A>G (p.Lys4342Glu) rs747829220
NM_001376.4(DYNC1H1):c.13072G>A (p.Ala4358Thr) rs547205132
NM_001376.4(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_001376.4(DYNC1H1):c.13150G>A (p.Ala4384Thr) rs768797999
NM_001376.4(DYNC1H1):c.13157A>G (p.Asn4386Ser) rs201575292
NM_001376.4(DYNC1H1):c.13165C>T (p.His4389Tyr)
NM_001376.4(DYNC1H1):c.13180A>G (p.Thr4394Ala) rs1555412552
NM_001376.4(DYNC1H1):c.13257G>C (p.Met4419Ile) rs1555412618
NM_001376.4(DYNC1H1):c.13286A>G (p.Gln4429Arg) rs763724110
NM_001376.4(DYNC1H1):c.13297G>A (p.Asp4433Asn)
NM_001376.4(DYNC1H1):c.13349C>T (p.Thr4450Met) rs146087540
NM_001376.4(DYNC1H1):c.13373-3C>G
NM_001376.4(DYNC1H1):c.13404G>A (p.Thr4468=) rs17541692
NM_001376.4(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678
NM_001376.4(DYNC1H1):c.13441G>A (p.Asp4481Asn)
NM_001376.4(DYNC1H1):c.13719C>G (p.Asn4573Lys) rs886050377
NM_001376.4(DYNC1H1):c.13719_13721delCAA (p.Asn4573del) rs1013209915
NM_001376.4(DYNC1H1):c.13771C>T (p.Arg4591Cys)
NM_001376.4(DYNC1H1):c.13798A>C (p.Lys4600Gln) rs1060502205
NM_001376.4(DYNC1H1):c.137G>T (p.Gly46Val)
NM_001376.4(DYNC1H1):c.13855A>G (p.Ile4619Val) rs879254286
NM_001376.4(DYNC1H1):c.13866G>A (p.Val4622=) rs781130520
NM_001376.4(DYNC1H1):c.13867G>A (p.Asp4623Asn) rs750353606
NM_001376.4(DYNC1H1):c.13873G>A (p.Glu4625Lys) rs200149883
NM_001376.4(DYNC1H1):c.1390G>A (p.Asp464Asn) rs777919963
NM_001376.4(DYNC1H1):c.1442T>A (p.Val481Asp) rs776102509
NM_001376.4(DYNC1H1):c.1454G>A (p.Arg485Lys) rs879254275
NM_001376.4(DYNC1H1):c.1466C>T (p.Thr489Met) rs773725715
NM_001376.4(DYNC1H1):c.1467G>A (p.Thr489=)
NM_001376.4(DYNC1H1):c.1477C>A (p.Gln493Lys) rs1298953581
NM_001376.4(DYNC1H1):c.1507C>G (p.Gln503Glu) rs1060502209
NM_001376.4(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566
NM_001376.4(DYNC1H1):c.1628C>T (p.Thr543Met)
NM_001376.4(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803
NM_001376.4(DYNC1H1):c.1916G>A (p.Arg639His) rs1244748017
NM_001376.4(DYNC1H1):c.1942A>G (p.Ile648Val)
NM_001376.4(DYNC1H1):c.2028C>G (p.His676Gln)
NM_001376.4(DYNC1H1):c.2029G>A (p.Val677Met) rs563050462
NM_001376.4(DYNC1H1):c.2147G>A (p.Arg716His) rs759802064
NM_001376.4(DYNC1H1):c.2204T>C (p.Leu735Pro)
NM_001376.4(DYNC1H1):c.2278G>A (p.Val760Ile) rs781320162
NM_001376.4(DYNC1H1):c.2353G>A (p.Val785Ile) rs766014166
NM_001376.4(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189
NM_001376.4(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994
NM_001376.4(DYNC1H1):c.2977G>A (p.Val993Ile)
NM_001376.4(DYNC1H1):c.3073C>T (p.Arg1025Trp) rs777387819
NM_001376.4(DYNC1H1):c.3079C>T (p.Pro1027Ser) rs1060502206
NM_001376.4(DYNC1H1):c.3084T>G (p.Asp1028Glu) rs775528195
NM_001376.4(DYNC1H1):c.3121A>T (p.Met1041Leu) rs867890249
NM_001376.4(DYNC1H1):c.3156+5G>A rs200905961
NM_001376.4(DYNC1H1):c.3218G>A (p.Gly1073Glu)
NM_001376.4(DYNC1H1):c.3230A>G (p.Asn1077Ser)
NM_001376.4(DYNC1H1):c.345-3T>G rs1060502203
NM_001376.4(DYNC1H1):c.3571C>T (p.Arg1191Cys) rs774198261
NM_001376.4(DYNC1H1):c.3642C>A (p.Ile1214=) rs778273904
NM_001376.4(DYNC1H1):c.3704A>G (p.Gln1235Arg) rs867503066
NM_001376.4(DYNC1H1):c.370G>A (p.Val124Met) rs749548033
NM_001376.4(DYNC1H1):c.3766G>A (p.Asp1256Asn) rs760571415
NM_001376.4(DYNC1H1):c.3980A>G (p.Gln1327Arg)
NM_001376.4(DYNC1H1):c.4049C>T (p.Pro1350Leu) rs1131691955
NM_001376.4(DYNC1H1):c.4173A>C (p.Lys1391Asn) rs1555409283
NM_001376.4(DYNC1H1):c.4193T>C (p.Met1398Thr)
NM_001376.4(DYNC1H1):c.422G>A (p.Ser141Asn)
NM_001376.4(DYNC1H1):c.4336G>A (p.Val1446Ile) rs367614843
NM_001376.4(DYNC1H1):c.4510G>A (p.Val1504Ile) rs761695197
NM_001376.4(DYNC1H1):c.4532C>T (p.Pro1511Leu) rs1327664377
NM_001376.4(DYNC1H1):c.4651T>C (p.Phe1551Leu) rs762246186
NM_001376.4(DYNC1H1):c.4709+6G>T rs1555409403
NM_001376.4(DYNC1H1):c.4851A>C (p.Glu1617Asp) rs1060502204
NM_001376.4(DYNC1H1):c.5002G>A (p.Glu1668Lys)
NM_001376.4(DYNC1H1):c.503C>G (p.Ser168Cys) rs1321265961
NM_001376.4(DYNC1H1):c.5053A>G (p.Met1685Val) rs1555409556
NM_001376.4(DYNC1H1):c.5155G>A (p.Glu1719Lys) rs1555409562
NM_001376.4(DYNC1H1):c.5165C>T (p.Thr1722Met) rs1555409563
NM_001376.4(DYNC1H1):c.5166G>A (p.Thr1722=)
NM_001376.4(DYNC1H1):c.5197A>G (p.Ile1733Val) rs138287354
NM_001376.4(DYNC1H1):c.5225T>C (p.Ile1742Thr) rs1555409568
NM_001376.4(DYNC1H1):c.5248G>A (p.Val1750Met) rs199740595
NM_001376.4(DYNC1H1):c.5284G>A (p.Val1762Met) rs780345145
NM_001376.4(DYNC1H1):c.5293G>A (p.Ala1765Thr) rs144147463
NM_001376.4(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853
NM_001376.4(DYNC1H1):c.5326G>A (p.Ala1776Thr) rs200722698
NM_001376.4(DYNC1H1):c.5495delA (p.Asn1832Thrfs) rs1555409622
NM_001376.4(DYNC1H1):c.5655T>A (p.Thr1885=) rs538791873
NM_001376.4(DYNC1H1):c.5660G>A (p.Arg1887His)
NM_001376.4(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.4(DYNC1H1):c.598A>G (p.Ile200Val)
NM_001376.4(DYNC1H1):c.624_625delGAinsAG (p.Ile209Val) rs1555407906
NM_001376.4(DYNC1H1):c.6353G>A (p.Arg2118Gln) rs1060502207
NM_001376.4(DYNC1H1):c.6421G>A (p.Val2141Ile) rs765613848
NM_001376.4(DYNC1H1):c.6511C>T (p.His2171Tyr) rs1060502208
NM_001376.4(DYNC1H1):c.6763G>A (p.Asp2255Asn) rs376274132
NM_001376.4(DYNC1H1):c.6862A>G (p.Ile2288Val)
NM_001376.4(DYNC1H1):c.6986A>G (p.Asn2329Ser) rs142335110
NM_001376.4(DYNC1H1):c.7014+3A>G rs1426193095
NM_001376.4(DYNC1H1):c.7116C>A (p.Asp2372Glu)
NM_001376.4(DYNC1H1):c.7148G>A (p.Arg2383His) rs1028991666
NM_001376.4(DYNC1H1):c.7193G>A (p.Arg2398His)
NM_001376.4(DYNC1H1):c.7193G>C (p.Arg2398Pro)
NM_001376.4(DYNC1H1):c.7242+5G>A
NM_001376.4(DYNC1H1):c.7372C>T (p.Leu2458Phe) rs1161281176
NM_001376.4(DYNC1H1):c.7400G>A (p.Arg2467His)
NM_001376.4(DYNC1H1):c.7438C>G (p.Pro2480Ala) rs1018948570
NM_001376.4(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.4(DYNC1H1):c.7539G>C (p.Glu2513Asp) rs376901405
NM_001376.4(DYNC1H1):c.7614+6C>T
NM_001376.4(DYNC1H1):c.8068G>A (p.Gly2690Arg) rs1555410313
NM_001376.4(DYNC1H1):c.8200G>A (p.Val2734Met) rs376679623
NM_001376.4(DYNC1H1):c.8217G>A (p.Pro2739=) rs138710201
NM_001376.4(DYNC1H1):c.8344-4A>G rs200913985
NM_001376.4(DYNC1H1):c.851C>T (p.Ala284Val)
NM_001376.4(DYNC1H1):c.8555C>T (p.Thr2852Met) rs575806819
NM_001376.4(DYNC1H1):c.8873T>C (p.Val2958Ala) rs1555410902
NM_001376.4(DYNC1H1):c.8886+4C>T
NM_001376.4(DYNC1H1):c.9109G>T (p.Ala3037Ser)
NM_001376.4(DYNC1H1):c.9139C>T (p.His3047Tyr) rs1555410940
NM_001376.4(DYNC1H1):c.9193G>A (p.Val3065Met) rs377668381
NM_001376.4(DYNC1H1):c.9263+5G>A rs200144865
NM_001376.4(DYNC1H1):c.92A>G (p.Gln31Arg)
NM_001376.4(DYNC1H1):c.9401C>T (p.Pro3134Leu) rs905098104
NM_001376.4(DYNC1H1):c.940G>A (p.Val314Ile)
NM_001376.4(DYNC1H1):c.9455A>G (p.Gln3152Arg)
NM_001376.4(DYNC1H1):c.9554A>C (p.Asn3185Thr) rs1311056505
NM_001376.4(DYNC1H1):c.9565G>A (p.Glu3189Lys)
NM_001376.4(DYNC1H1):c.9577G>A (p.Glu3193Lys)
NM_001376.4(DYNC1H1):c.9607G>A (p.Val3203Met)
NM_001376.4(DYNC1H1):c.9691G>T (p.Val3231Leu)
NM_001376.4(DYNC1H1):c.9784G>C (p.Glu3262Gln)
NM_001376.4(DYNC1H1):c.97C>T (p.His33Tyr)
NM_001540.3(HSPB1):c.277G>A (p.Asp93Asn) rs777201941
NM_001540.4(HSPB1):c.139G>A (p.Gly47Ser) rs778311776
NM_001540.4(HSPB1):c.16G>A (p.Val6Ile) rs1049324
NM_001540.4(HSPB1):c.202G>C (p.Val68Leu) rs757158514
NM_001540.4(HSPB1):c.20C>G (p.Pro7Arg)
NM_001540.4(HSPB1):c.229C>T (p.Leu77Phe) rs1231796327
NM_001540.4(HSPB1):c.257C>T (p.Ser86Leu) rs749378020
NM_001540.4(HSPB1):c.266G>A (p.Arg89Gln) rs1060503022
NM_001540.4(HSPB1):c.29T>A (p.Leu10His) rs772216758
NM_001540.4(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.4(HSPB1):c.364G>A (p.Gly122Ser)
NM_001540.4(HSPB1):c.365-6C>G rs200902768
NM_001540.4(HSPB1):c.369G>C (p.Lys123Asn) rs755233365
NM_001540.4(HSPB1):c.372C>G (p.His124Gln) rs145243219
NM_001540.4(HSPB1):c.376_378delGAG (p.Glu126del) rs1554614633
NM_001540.4(HSPB1):c.37G>A (p.Gly13Ser)
NM_001540.4(HSPB1):c.380G>A (p.Arg127Gln) rs587781250
NM_001540.4(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.4(HSPB1):c.403T>G (p.Ser135Ala)
NM_001540.4(HSPB1):c.451A>C (p.Thr151Pro) rs771232749
NM_001540.4(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.4(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005
NM_002180.2(IGHMBP2):c.1018G>A (p.Glu340Lys)
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231
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)
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.1274G>A (p.Arg425His) rs769046350
NM_002180.2(IGHMBP2):c.1277T>G (p.Leu426Arg) rs1555247218
NM_002180.2(IGHMBP2):c.128G>A (p.Arg43Gln)
NM_002180.2(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973
NM_002180.2(IGHMBP2):c.1348C>T (p.Arg450Cys)
NM_002180.2(IGHMBP2):c.1363A>C (p.Thr455Pro) rs775232759
NM_002180.2(IGHMBP2):c.1399G>A (p.Val467Met)
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907
NM_002180.2(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334
NM_002180.2(IGHMBP2):c.1489G>T (p.Gly497Trp) rs764111837
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.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.1637A>C (p.Asp546Ala)
NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His) rs201692151
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)
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_002180.2(IGHMBP2):c.1718A>G (p.Glu573Gly)
NM_002180.2(IGHMBP2):c.1736T>G (p.Phe579Cys)
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)
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)
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.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.1933G>A (p.Asp645Asn) rs775138577
NM_002180.2(IGHMBP2):c.2012C>T (p.Thr671Met)
NM_002180.2(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588
NM_002180.2(IGHMBP2):c.2035C>T (p.Arg679Trp)
NM_002180.2(IGHMBP2):c.204G>T (p.Glu68Asp)
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.2260G>A (p.Asp754Asn) rs200499838
NM_002180.2(IGHMBP2):c.2295C>G (p.His765Gln) rs149185954
NM_002180.2(IGHMBP2):c.2317G>A (p.Gly773Arg)
NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490
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.2456C>T (p.Pro819Leu)
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.2618C>T (p.Pro873Leu) rs141903179
NM_002180.2(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862
NM_002180.2(IGHMBP2):c.2671G>A (p.Val891Ile) rs199614709
NM_002180.2(IGHMBP2):c.2688C>G (p.Thr896=)
NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.2(IGHMBP2):c.2771A>C (p.His924Pro)
NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn)
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485
NM_002180.2(IGHMBP2):c.2856C>A (p.Ala952=)
NM_002180.2(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650
NM_002180.2(IGHMBP2):c.2863G>C (p.Gly955Arg)
NM_002180.2(IGHMBP2):c.286A>G (p.Asn96Asp)
NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613
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.2978C>T (p.Thr993Met) rs777591006
NM_002180.2(IGHMBP2):c.320C>G (p.Thr107Ser)
NM_002180.2(IGHMBP2):c.322C>T (p.Arg108Trp)
NM_002180.2(IGHMBP2):c.4G>T (p.Ala2Ser) rs778232785
NM_002180.2(IGHMBP2):c.547C>T (p.His183Tyr) rs548256623
NM_002180.2(IGHMBP2):c.57_58invTG (p.Glu20Lys)
NM_002180.2(IGHMBP2):c.641G>C (p.Gly214Ala)
NM_002180.2(IGHMBP2):c.64G>T (p.Asp22Tyr)
NM_002180.2(IGHMBP2):c.659A>G (p.Lys220Arg) rs1555243301
NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
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)
NM_002180.2(IGHMBP2):c.7T>G (p.Ser3Ala)
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)
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)
NM_003680.3(YARS1):c.1012A>G (p.Ser338Gly)
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)
NM_003680.3(YARS1):c.1094delC (p.Pro365Hisfs)
NM_003680.3(YARS1):c.1099C>T (p.Arg367Trp)
NM_003680.3(YARS1):c.1117G>A (p.Gly373Arg) rs764584188
NM_003680.3(YARS1):c.1138A>C (p.Lys380Gln) rs1405248711
NM_003680.3(YARS1):c.1175T>C (p.Ile392Thr)
NM_003680.3(YARS1):c.1180G>A (p.Val394Met) rs863224717
NM_003680.3(YARS1):c.1348C>T (p.Arg450Cys) rs141955005
NM_003680.3(YARS1):c.1476+2T>C rs1553122620
NM_003680.3(YARS1):c.1487A>G (p.Lys496Arg) rs768160751
NM_003680.3(YARS1):c.1507G>T (p.Ala503Ser)
NM_003680.3(YARS1):c.1514G>A (p.Trp505Ter) rs1553122276
NM_003680.3(YARS1):c.1549A>G (p.Ile517Val) rs371220818
NM_003680.3(YARS1):c.1571G>C (p.Gly524Ala) rs201687117
NM_003680.3(YARS1):c.176T>C (p.Ile59Thr)
NM_003680.3(YARS1):c.181G>A (p.Asp61Asn)
NM_003680.3(YARS1):c.205-2A>G rs538137948
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.41T>C (p.Ile14Thr) rs1553127237
NM_003680.3(YARS1):c.440A>C (p.Lys147Thr)
NM_003680.3(YARS1):c.502G>A (p.Gly168Arg)
NM_003680.3(YARS1):c.523G>T (p.Glu175Ter) rs1553124472
NM_003680.3(YARS1):c.546A>G (p.Gln182=) rs751440666
NM_003680.3(YARS1):c.569A>G (p.Lys190Arg)
NM_003680.3(YARS1):c.695T>G (p.Ile232Ser) rs1553123310
NM_003680.3(YARS1):c.739_740delAAinsGC (p.Lys247Ala) rs1553123307
NM_003680.3(YARS1):c.746T>G (p.Phe249Cys) rs1009349245
NM_003680.3(YARS1):c.795G>C (p.Lys265Asn) rs141482636
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)
NM_004637.5(RAB7A):c.577G>A (p.Asp193Asn) rs756968558
NM_004862.3(LITAF):c.115C>T (p.Pro39Ser) rs375202318
NM_004862.3(LITAF):c.135G>A (p.Thr45=)
NM_004862.3(LITAF):c.151C>T (p.Pro51Ser) rs752978718
NM_004862.3(LITAF):c.179C>T (p.Ser60Leu)
NM_004862.3(LITAF):c.205C>T (p.Pro69Ser) rs1555466907
NM_004862.3(LITAF):c.226G>A (p.Val76Met) rs371334679
NM_004862.3(LITAF):c.226G>T (p.Val76Leu) rs371334679
NM_004862.3(LITAF):c.25G>A (p.Ala9Thr)
NM_004862.3(LITAF):c.272C>T (p.Pro91Leu)
NM_004862.3(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_004862.3(LITAF):c.340C>G (p.Leu114Val)
NM_004862.3(LITAF):c.378-3C>T
NM_004862.3(LITAF):c.410G>A (p.Cys137Tyr)
NM_004862.3(LITAF):c.418G>A (p.Ala140Thr)
NM_004862.3(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_004862.3(LITAF):c.457G>A (p.Ala153Thr) rs543022814
NM_004862.3(LITAF):c.479G>A (p.Arg160His) rs864622744
NM_004862.3(LITAF):c.85G>A (p.Val29Ile) rs767809270
NM_004990.3(MARS1):c.1091+2dup rs754216322
NM_004990.3(MARS1):c.1181G>A (p.Arg394His) rs769544594
NM_004990.3(MARS1):c.1331T>C (p.Val444Ala)
NM_004990.3(MARS1):c.1366A>G (p.Lys456Glu)
NM_004990.3(MARS1):c.1385A>G (p.Glu462Gly)
NM_004990.3(MARS1):c.1673C>A (p.Pro558His) rs771808261
NM_004990.3(MARS1):c.1813G>A (p.Asp605Asn)
NM_004990.3(MARS1):c.1968-8C>T
NM_004990.3(MARS1):c.2033A>G (p.Asp678Gly) rs1205620243
NM_004990.3(MARS1):c.2053G>A (p.Val685Ile) rs558631075
NM_004990.3(MARS1):c.2116C>T (p.Arg706Cys) rs148501787
NM_004990.3(MARS1):c.2294C>T (p.Ala765Val) rs559255944
NM_004990.3(MARS1):c.2391A>C (p.Thr797=) rs140573721
NM_004990.3(MARS1):c.244A>C (p.Asn82His)
NM_004990.3(MARS1):c.2470A>C (p.Thr824Pro) rs200404964
NM_004990.3(MARS1):c.2477C>T (p.Pro826Leu)
NM_004990.3(MARS1):c.2531C>T (p.Ala844Val)
NM_004990.3(MARS1):c.2631_2635dup (p.Leu879Argfs) rs1172463219
NM_004990.3(MARS1):c.2666A>G (p.Lys889Arg) rs779548081
NM_004990.3(MARS1):c.2671C>T (p.Pro891Ser) rs35843015
NM_004990.3(MARS1):c.365C>A (p.Thr122Asn) rs201007223
NM_004990.3(MARS1):c.550C>T (p.Arg184Ter) rs753083306
NM_004990.3(MARS1):c.616C>T (p.Pro206Ser)
NM_004990.3(MARS1):c.617C>T (p.Pro206Leu) rs138776588
NM_004990.3(MARS1):c.661G>A (p.Glu221Lys) rs200334446
NM_004990.3(MARS1):c.699T>G (p.Ile233Met) rs201597392
NM_004990.3(MARS1):c.749T>C (p.Leu250Pro) rs139033078
NM_004990.3(MARS1):c.823G>A (p.Val275Ile)
NM_004990.3(MARS1):c.906_919delGTGGAACACCCTCTinsCTC (p.Gln302Hisfs) rs1555166943
NM_004990.3(MARS1):c.95C>G (p.Thr32Ser) rs11540809
NM_005340.6(HINT1):c.203A>T (p.Asp68Val) rs371048016
NM_005340.6(HINT1):c.237T>A (p.Ile79=)
NM_005340.6(HINT1):c.243C>T (p.Gly81=) rs1426690264
NM_005340.6(HINT1):c.277G>T (p.Gly93Cys)
NM_005340.6(HINT1):c.81A>G (p.Ile27Met)
NM_005391.4(PDK3):c.1087dup (p.Ser363Lysfs)
NM_006070.5(TFG):c.1006C>T (p.Pro336Ser) rs371681149
NM_006070.5(TFG):c.1014T>G (p.Asn338Lys) rs1553704923
NM_006070.5(TFG):c.1070A>G (p.Tyr357Cys) rs1375662436
NM_006070.5(TFG):c.1094C>T (p.Ser365Leu) rs1288104441
NM_006070.5(TFG):c.1123C>G (p.Pro375Ala) rs1234073129
NM_006070.5(TFG):c.1145C>T (p.Ala382Val) rs138185005
NM_006070.5(TFG):c.1157C>T (p.Pro386Leu) rs766049461
NM_006070.5(TFG):c.1199G>A (p.Arg400Gln)
NM_006070.5(TFG):c.309A>G (p.Lys103=) rs369508900
NM_006070.5(TFG):c.310T>C (p.Tyr104His)
NM_006070.5(TFG):c.391C>T (p.Pro131Ser) rs770053266
NM_006070.5(TFG):c.483G>A (p.Met161Ile) rs750964585
NM_006070.5(TFG):c.68G>A (p.Arg23Gln)
NM_006070.5(TFG):c.716T>C (p.Ile239Thr)
NM_006070.5(TFG):c.740A>G (p.Tyr247Cys)
NM_006070.5(TFG):c.826T>C (p.Tyr276His)
NM_006070.5(TFG):c.852A>C (p.Gln284His)
NM_006070.5(TFG):c.882A>C (p.Gln294His)
NM_006070.5(TFG):c.943C>T (p.Pro315Ser) rs1553704852
NM_006070.5(TFG):c.944C>T (p.Pro315Leu) rs753375115
NM_006070.5(TFG):c.980A>G (p.Gln327Arg) rs1431898500
NM_006070.5(TFG):c.98A>G (p.Tyr33Cys)
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_1091delCCACACCAGCGAGGGCACCCGAAGCCGCTCCCACACCAGCGAGGGCACCCGCAGCCGCTC (p.Thr350_Gly369del) rs1554747479
NM_006096.3(NDRG1):c.1051C>T (p.Arg351Ter) rs765621411
NM_006096.3(NDRG1):c.106G>T (p.Asp36Tyr) rs745832151
NM_006096.3(NDRG1):c.1077_1106dup (p.Gly369_Ala370insThrArgSerArgSerHisThrSerGluGly) rs1554747463
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.1109C>G (p.Ala370Gly) rs367925853
NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.3(NDRG1):c.1112_1114delACCinsTTT (p.His371Leu) rs1554747447
NM_006096.3(NDRG1):c.122A>G (p.His41Arg) rs2233318
NM_006096.3(NDRG1):c.166C>T (p.Arg56Trp)
NM_006096.3(NDRG1):c.212C>A (p.Thr71Asn) rs1554591949
NM_006096.3(NDRG1):c.304G>A (p.Gly102Ser) rs200433822
NM_006096.3(NDRG1):c.311C>A (p.Ala104Asp)
NM_006096.3(NDRG1):c.345G>T (p.Met115Ile)
NM_006096.3(NDRG1):c.416C>G (p.Thr139Arg) rs863224745
NM_006096.3(NDRG1):c.4T>C (p.Ser2Pro)
NM_006096.3(NDRG1):c.506C>T (p.Ala169Val) rs963190299
NM_006096.3(NDRG1):c.563C>T (p.Pro188Leu)
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.660C>A (p.Asn220Lys) rs143549909
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.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.904G>A (p.Ala302Thr) rs373637595
NM_006096.3(NDRG1):c.950C>T (p.Ser317Leu)
NM_006096.3(NDRG1):c.956G>A (p.Ser319Asn)
NM_006096.3(NDRG1):c.964C>T (p.Arg322Cys) rs368404338
NM_006096.3(NDRG1):c.980G>A (p.Arg327His) rs565705964
NM_006158.4(NEFL):c.1044+5G>C
NM_006158.4(NEFL):c.1069G>A (p.Glu357Lys) rs1060503693
NM_006158.4(NEFL):c.1154A>T (p.Glu385Val)
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.1261C>A (p.Arg421=) rs191346286
NM_006158.4(NEFL):c.1287C>T (p.Thr429=) rs1554497362
NM_006158.4(NEFL):c.1327_1329delTAC (p.Tyr443del) rs1554497354
NM_006158.4(NEFL):c.1333A>G (p.Ser445Gly)
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.1462G>A (p.Glu488Lys) rs773570365
NM_006158.4(NEFL):c.1513G>A (p.Ala505Thr) rs1060503694
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) rs377121179
NM_006158.4(NEFL):c.217C>G (p.Leu73Val) rs755889503
NM_006158.4(NEFL):c.22C>T (p.Pro8Ser)
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)
NM_006158.4(NEFL):c.289C>T (p.Leu97Phe) rs587777888
NM_006158.4(NEFL):c.418G>A (p.Glu140Lys)
NM_006158.4(NEFL):c.490C>G (p.Arg164Gly)
NM_006158.4(NEFL):c.530G>T (p.Arg177Leu)
NM_006158.4(NEFL):c.579G>A (p.Met193Ile) rs367943135
NM_006158.4(NEFL):c.58G>A (p.Glu20Lys)
NM_006158.4(NEFL):c.593G>C (p.Gly198Ala) rs1554497605
NM_006158.4(NEFL):c.608C>T (p.Ala203Val)
NM_006158.4(NEFL):c.65C>A (p.Pro22His) rs267607538
NM_006158.4(NEFL):c.668T>C (p.Leu223Pro)
NM_006158.4(NEFL):c.67C>G (p.Arg23Gly)
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.755C>T (p.Pro252Leu)
NM_006158.4(NEFL):c.761T>C (p.Leu254Pro) rs1554497578
NM_006158.4(NEFL):c.797A>G (p.Glu266Gly) rs1367433683
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_014365.2(HSPB8):c.116C>T (p.Pro39Leu) rs771827550
NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg)
NM_014365.2(HSPB8):c.164G>A (p.Arg55His)
NM_014365.2(HSPB8):c.194G>A (p.Arg65Lys)
NM_014365.2(HSPB8):c.201C>T (p.Gly67=)
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.319C>T (p.Pro107Ser) rs146000958
NM_014365.2(HSPB8):c.421A>C (p.Lys141Gln)
NM_014365.2(HSPB8):c.437C>G (p.Pro146Arg)
NM_014365.2(HSPB8):c.512T>C (p.Val171Ala) rs878854979
NM_014365.2(HSPB8):c.523T>G (p.Ser175Ala)
NM_014365.2(HSPB8):c.536A>G (p.Glu179Gly) rs863224767
NM_014365.2(HSPB8):c.541A>T (p.Ser181Cys)
NM_014365.2(HSPB8):c.570C>A (p.Ser190Arg)
NM_014365.2(HSPB8):c.580A>T (p.Thr194Ser) rs771995241
NM_014365.2(HSPB8):c.584G>A (p.Cys195Tyr)
NM_014365.2(HSPB8):c.65G>A (p.Arg22Gln)
NM_014365.2(HSPB8):c.9C>G (p.Asp3Glu) rs952834680
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)
NM_014845.5(FIG4):c.1199A>G (p.Tyr400Cys)
NM_014845.5(FIG4):c.120G>T (p.Lys40Asn)
NM_014845.5(FIG4):c.1313A>G (p.Glu438Gly)
NM_014845.5(FIG4):c.1338C>G (p.Phe446Leu)
NM_014845.5(FIG4):c.1348C>T (p.Arg450Cys) rs201072058
NM_014845.5(FIG4):c.137C>G (p.Pro46Arg)
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.1752T>A (p.Asp584Glu) rs1060501402
NM_014845.5(FIG4):c.1877C>T (p.Pro626Leu)
NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
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)
NM_014845.5(FIG4):c.2042A>G (p.Tyr681Cys)
NM_014845.5(FIG4):c.2095C>T (p.Arg699Cys) rs764799053
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.2192A>G (p.Asn731Ser) rs1467094847
NM_014845.5(FIG4):c.2339A>G (p.Lys780Arg) rs373590484
NM_014845.5(FIG4):c.2376+5G>C rs528952794
NM_014845.5(FIG4):c.2377-10T>A rs9481005
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.2695C>T (p.Arg899Ter) rs750069994
NM_014845.5(FIG4):c.2704A>G (p.Ile902Val) rs143685038
NM_014845.5(FIG4):c.301T>C (p.Phe101Leu)
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)
NM_014845.5(FIG4):c.3_23dup (p.Pro7_Ile8insMetProThrAlaAlaAlaPro)
NM_014845.5(FIG4):c.414T>A (p.Asp138Glu)
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.535C>G (p.Leu179Val) rs141116831
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)
NM_014845.5(FIG4):c.805G>T (p.Val269Phe)
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.834A>T (p.Lys278Asn) rs138048706
NM_014845.5(FIG4):c.848G>A (p.Arg283His)
NM_014845.5(FIG4):c.974G>C (p.Arg325Thr) rs1060501400
NM_014941.3(MORC2):c.1038C>T (p.Gly346=) rs754338828
NM_014941.3(MORC2):c.1049_1057dup (p.Val352_Asp353insGlyValVal) rs1555938722
NM_014941.3(MORC2):c.1182C>A (p.Ile394=)
NM_014941.3(MORC2):c.1184-3C>T
NM_014941.3(MORC2):c.1193G>A (p.Gly398Glu)
NM_014941.3(MORC2):c.1260G>T (p.Glu420Asp)
NM_014941.3(MORC2):c.1282G>A (p.Ala428Thr)
NM_014941.3(MORC2):c.1311C>T (p.Cys437=)
NM_014941.3(MORC2):c.1372C>T (p.Pro458Ser) rs1555938391
NM_014941.3(MORC2):c.1419-3C>T
NM_014941.3(MORC2):c.1543G>T (p.Ala515Ser)
NM_014941.3(MORC2):c.1561C>A (p.Pro521Thr)
NM_014941.3(MORC2):c.1567C>T (p.Arg523Cys)
NM_014941.3(MORC2):c.1575A>G (p.Gln525=)
NM_014941.3(MORC2):c.1613G>A (p.Arg538Lys)
NM_014941.3(MORC2):c.1626G>A (p.Glu542=) rs1214680334
NM_014941.3(MORC2):c.1634T>C (p.Val545Ala) rs1555937777
NM_014941.3(MORC2):c.1673dup (p.Val559Cysfs)
NM_014941.3(MORC2):c.169A>G (p.Thr57Ala) rs748216749
NM_014941.3(MORC2):c.1763C>T (p.Thr588Ile) rs371710965
NM_014941.3(MORC2):c.1770G>C (p.Lys590Asn)
NM_014941.3(MORC2):c.1832C>G (p.Ala611Gly)
NM_014941.3(MORC2):c.1838G>A (p.Arg613Gln)
NM_014941.3(MORC2):c.1880C>T (p.Ala627Val)
NM_014941.3(MORC2):c.1906T>C (p.Ser636Pro) rs897158764
NM_014941.3(MORC2):c.1920C>A (p.Asn640Lys)
NM_014941.3(MORC2):c.1934G>A (p.Arg645Gln) rs768807060
NM_014941.3(MORC2):c.1942C>T (p.Pro648Ser) rs780648306
NM_014941.3(MORC2):c.1A>T (p.Met1Leu)
NM_014941.3(MORC2):c.2064_2066del (p.Glu689del)
NM_014941.3(MORC2):c.2095C>T (p.Arg699Trp) rs369384586
NM_014941.3(MORC2):c.2194+6C>G rs1555936909
NM_014941.3(MORC2):c.2448G>C (p.Gln816His) rs1388475410
NM_014941.3(MORC2):c.2512G>T (p.Ala838Ser) rs1555936530
NM_014941.3(MORC2):c.2525A>G (p.Asn842Ser)
NM_014941.3(MORC2):c.2548G>T (p.Val850Phe)
NM_014941.3(MORC2):c.2728C>T (p.Arg910Trp) rs1485425350
NM_014941.3(MORC2):c.2758A>G (p.Thr920Ala) rs771410096
NM_014941.3(MORC2):c.350G>A (p.Arg117His) rs541114863
NM_014941.3(MORC2):c.35A>G (p.Asp12Gly) rs1555942389
NM_014941.3(MORC2):c.380T>C (p.Met127Thr) rs1555940315
NM_014941.3(MORC2):c.41G>A (p.Ser14Asn)
NM_014941.3(MORC2):c.486G>T (p.Gln162His)
NM_014941.3(MORC2):c.521A>G (p.Glu174Gly) rs886037934
NM_014941.3(MORC2):c.526C>T (p.Arg176Cys) rs371713427
NM_014941.3(MORC2):c.527G>A (p.Arg176His) rs367766290
NM_014941.3(MORC2):c.590G>A (p.Gly197Glu) rs368260550
NM_014941.3(MORC2):c.614T>G (p.Leu205Arg) rs1555939986
NM_014941.3(MORC2):c.629A>T (p.Tyr210Phe) rs987083509
NM_014941.3(MORC2):c.653C>T (p.Thr218Met) rs764379949
NM_014941.3(MORC2):c.706G>C (p.Val236Leu) rs772766261
NM_014941.3(MORC2):c.72G>C (p.Lys24Asn) rs150980372
NM_014941.3(MORC2):c.783C>A (p.Asp261Glu) rs199973357
NM_014941.3(MORC2):c.790C>T (p.Arg264Trp) rs558057376
NM_014941.3(MORC2):c.802-10A>G rs370880177
NM_014941.3(MORC2):c.842G>A (p.Arg281His) rs753651729
NM_014941.3(MORC2):c.892C>T (p.Leu298Phe)
NM_014941.3(MORC2):c.995A>G (p.Tyr332Cys) rs1555938796
NM_016156.5(MTMR2):c.1175T>C (p.Ile392Thr) rs1555060014
NM_016156.5(MTMR2):c.1190C>G (p.Ala397Gly)
NM_016156.5(MTMR2):c.1364G>A (p.Ser455Asn)
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.1446A>G (p.Gln482=) rs376166939
NM_016156.5(MTMR2):c.14C>G (p.Ser5Trp) rs778430688
NM_016156.5(MTMR2):c.1511T>C (p.Phe504Ser)
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)
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
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.1861C>T (p.Arg621Ter) rs753364428
NM_016156.5(MTMR2):c.1882_1885dup (p.Ala629Glufs)
NM_016156.5(MTMR2):c.1900C>T (p.Gln634Ter) rs923973985
NM_016156.5(MTMR2):c.1916delT (p.Val639Alafs) rs779740723
NM_016156.5(MTMR2):c.232T>A (p.Leu78Met)
NM_016156.5(MTMR2):c.262+4C>T rs760282236
NM_016156.5(MTMR2):c.262+5G>A
NM_016156.5(MTMR2):c.350T>C (p.Met117Thr)
NM_016156.5(MTMR2):c.355C>G (p.Arg119Gly) rs142774695
NM_016156.5(MTMR2):c.357+4A>C rs863224750
NM_016156.5(MTMR2):c.35C>T (p.Ser12Phe)
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.604C>G (p.Pro202Ala) rs186380748
NM_016156.5(MTMR2):c.756_758delTGA (p.Asp252del) rs878855016
NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) rs587779385
NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) rs200898934
NM_018972.2(GDAP1):c.845G>A (p.Arg282His)
NM_018972.3(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185
NM_018972.3(GDAP1):c.1037G>A (p.Ser346Asn)
NM_018972.3(GDAP1):c.106A>C (p.Ser36Arg) rs1448664085
NM_018972.3(GDAP1):c.109T>A (p.Ser37Thr) rs756121249
NM_018972.3(GDAP1):c.161A>G (p.His54Arg) rs1441803924
NM_018972.3(GDAP1):c.169A>C (p.Ser57Arg) rs863224774
NM_018972.3(GDAP1):c.248G>C (p.Gly83Ala) rs371138642
NM_018972.3(GDAP1):c.256A>G (p.Ile86Val)
NM_018972.3(GDAP1):c.260T>C (p.Ile87Thr) rs751297226
NM_018972.3(GDAP1):c.338A>G (p.Lys113Arg) rs1290008555
NM_018972.3(GDAP1):c.385G>A (p.Asp129Asn) rs1279013936
NM_018972.3(GDAP1):c.419G>T (p.Cys140Phe)
NM_018972.3(GDAP1):c.430C>A (p.Pro144Thr) rs570990910
NM_018972.3(GDAP1):c.556A>G (p.Ile186Val) rs148508128
NM_018972.3(GDAP1):c.5C>G (p.Ala2Gly) rs376868259
NM_018972.3(GDAP1):c.614T>C (p.Leu205Ser) rs878855054
NM_018972.3(GDAP1):c.620A>C (p.Lys207Thr) rs140384868
NM_018972.3(GDAP1):c.653A>G (p.Gln218Arg) rs556827873
NM_018972.3(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.3(GDAP1):c.693A>T (p.Pro231=) rs181157785
NM_018972.3(GDAP1):c.694+1G>A
NM_018972.3(GDAP1):c.694+5G>A rs752550394
NM_018972.3(GDAP1):c.695-9T>A rs906225606
NM_018972.3(GDAP1):c.710C>G (p.Pro237Arg) rs763963750
NM_018972.3(GDAP1):c.754G>A (p.Ala252Thr) rs778105019
NM_018972.3(GDAP1):c.770G>A (p.Arg257Gln) rs1425323007
NM_018972.3(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.3(GDAP1):c.785G>A (p.Gly262Glu)
NM_018972.3(GDAP1):c.820C>G (p.Pro274Ala)
NM_018972.3(GDAP1):c.86A>C (p.Tyr29Ser)
NM_018972.3(GDAP1):c.907G>T (p.Ala303Ser) rs368055667
NM_018972.3(GDAP1):c.965C>T (p.Thr322Met) rs199529910
NM_018972.3(GDAP1):c.977T>A (p.Val326Asp)
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226
NM_020631.4(PLEKHG5):c.1066C>T (p.Arg356Trp) rs764053619
NM_020631.4(PLEKHG5):c.1081-3C>T rs772519809
NM_020631.4(PLEKHG5):c.124_129dup (p.Glu43_Ser44insGluGlu)
NM_020631.4(PLEKHG5):c.1264C>T (p.Leu422Phe)
NM_020631.4(PLEKHG5):c.1270G>A (p.Gly424Ser) rs1366436495
NM_020631.4(PLEKHG5):c.1286G>C (p.Gly429Ala)
NM_020631.4(PLEKHG5):c.1295T>C (p.Phe432Ser)
NM_020631.4(PLEKHG5):c.1346T>C (p.Met449Thr) rs1553174146
NM_020631.4(PLEKHG5):c.1379G>A (p.Arg460Gln) rs1309731055
NM_020631.4(PLEKHG5):c.1396G>C (p.Ala466Pro) rs757292650
NM_020631.4(PLEKHG5):c.1507G>C (p.Glu503Gln) rs868161574
NM_020631.4(PLEKHG5):c.1510G>A (p.Glu504Lys)
NM_020631.4(PLEKHG5):c.1513C>T (p.Pro505Ser) rs530846615
NM_020631.4(PLEKHG5):c.1519G>A (p.Ala507Thr)
NM_020631.4(PLEKHG5):c.1535T>A (p.Val512Asp) rs548243654
NM_020631.4(PLEKHG5):c.1610G>A (p.Arg537Gln) rs1322468026
NM_020631.4(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061
NM_020631.4(PLEKHG5):c.161G>A (p.Ser54Asn) rs376703933
NM_020631.4(PLEKHG5):c.1681-27_1681-3dup rs748372368
NM_020631.4(PLEKHG5):c.1681-9C>G rs373133607
NM_020631.4(PLEKHG5):c.168C>T (p.Gly56=) rs1366828227
NM_020631.4(PLEKHG5):c.1697T>A (p.Leu566Gln) rs376513313
NM_020631.4(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225
NM_020631.4(PLEKHG5):c.1729G>A (p.Ala577Thr) rs143545780
NM_020631.4(PLEKHG5):c.1736C>T (p.Pro579Leu)
NM_020631.4(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001
NM_020631.4(PLEKHG5):c.1741G>A (p.Glu581Lys) rs267598690
NM_020631.4(PLEKHG5):c.1783G>C (p.Glu595Gln) rs140597591
NM_020631.4(PLEKHG5):c.1804G>A (p.Asp602Asn)
NM_020631.4(PLEKHG5):c.1840G>C (p.Val614Leu) rs752514480
NM_020631.4(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744
NM_020631.4(PLEKHG5):c.2017C>T (p.Arg673Cys) rs747057331
NM_020631.4(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621
NM_020631.4(PLEKHG5):c.2156_2157insAGA (p.Glu723_Gly724insGlu) rs1553173388
NM_020631.4(PLEKHG5):c.2160_2163delGGAGinsA (p.Glu723del) rs386628081
NM_020631.4(PLEKHG5):c.2163_2168dupGGAGGA (p.Glu723_Gly724insGluGlu) rs113541584
NM_020631.4(PLEKHG5):c.2166_2168dupGGA (p.Glu723_Gly724insGlu) rs113541584
NM_020631.4(PLEKHG5):c.2212A>G (p.Met738Val) rs778686532
NM_020631.4(PLEKHG5):c.2213T>A (p.Met738Lys)
NM_020631.4(PLEKHG5):c.2227G>A (p.Gly743Ser) rs145073653
NM_020631.4(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_020631.4(PLEKHG5):c.2268G>A (p.Thr756=) rs757831916
NM_020631.4(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922
NM_020631.4(PLEKHG5):c.2431C>T (p.Arg811Cys) rs538561788
NM_020631.4(PLEKHG5):c.2432G>A (p.Arg811His)
NM_020631.4(PLEKHG5):c.2435C>T (p.Ser812Phe) rs145009237
NM_020631.4(PLEKHG5):c.2489T>C (p.Phe830Ser) rs764007395
NM_020631.4(PLEKHG5):c.2506A>G (p.Met836Val) rs752621606
NM_020631.4(PLEKHG5):c.2524C>T (p.Arg842Trp)
NM_020631.4(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441
NM_020631.4(PLEKHG5):c.2543G>A (p.Arg848Gln) rs761000380
NM_020631.4(PLEKHG5):c.2564C>T (p.Ser855Leu) rs768995193
NM_020631.4(PLEKHG5):c.2578C>T (p.Arg860Cys)
NM_020631.4(PLEKHG5):c.2683C>G (p.Pro895Ala)
NM_020631.4(PLEKHG5):c.2698C>T (p.Arg900Cys) rs750132016
NM_020631.4(PLEKHG5):c.2713C>T (p.Leu905Phe) rs774696513
NM_020631.4(PLEKHG5):c.2720T>C (p.Leu907Pro) rs764378556
NM_020631.4(PLEKHG5):c.2728C>T (p.Pro910Ser) rs1334075760
NM_020631.4(PLEKHG5):c.2746A>C (p.Thr916Pro) rs187886272
NM_020631.4(PLEKHG5):c.274G>A (p.Val92Ile) rs371516662
NM_020631.4(PLEKHG5):c.2789G>A (p.Arg930Gln) rs376237905
NM_020631.4(PLEKHG5):c.2837C>T (p.Ala946Val) rs751158651
NM_020631.4(PLEKHG5):c.2864A>G (p.Lys955Arg)
NM_020631.4(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688
NM_020631.4(PLEKHG5):c.2886G>A (p.Ser962=)
NM_020631.4(PLEKHG5):c.292_294delAAG (p.Lys98del)
NM_020631.4(PLEKHG5):c.2933C>T (p.Ala978Val)
NM_020631.4(PLEKHG5):c.2975G>A (p.Arg992Lys)
NM_020631.4(PLEKHG5):c.302+6G>A rs1553175409
NM_020631.4(PLEKHG5):c.307G>T (p.Val103Leu)
NM_020631.4(PLEKHG5):c.34C>T (p.Pro12Ser)
NM_020631.4(PLEKHG5):c.38C>T (p.Pro13Leu) rs776271244
NM_020631.4(PLEKHG5):c.412T>C (p.Phe138Leu) rs1302453044
NM_020631.4(PLEKHG5):c.415G>C (p.Gly139Arg)
NM_020631.4(PLEKHG5):c.47C>G (p.Ser16Cys)
NM_020631.4(PLEKHG5):c.495G>C (p.Lys165Asn)
NM_020631.4(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760
NM_020631.4(PLEKHG5):c.541G>A (p.Ala181Thr) rs527341275
NM_020631.4(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624
NM_020631.4(PLEKHG5):c.572G>A (p.Arg191Gln) rs541234129
NM_020631.4(PLEKHG5):c.607C>T (p.Arg203Cys)
NM_020631.4(PLEKHG5):c.620C>T (p.Ser207Leu) rs572530276
NM_020631.4(PLEKHG5):c.638C>T (p.Ala213Val) rs367543633
NM_020631.4(PLEKHG5):c.707C>T (p.Thr236Ile)
NM_020631.4(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578
NM_020631.4(PLEKHG5):c.73C>T (p.Arg25Trp) rs377503203
NM_020631.4(PLEKHG5):c.767C>T (p.Ser256Phe)
NM_020631.4(PLEKHG5):c.784G>C (p.Ala262Pro)
NM_020631.4(PLEKHG5):c.823G>A (p.Gly275Ser)
NM_020631.4(PLEKHG5):c.82C>T (p.Pro28Ser) rs373539850
NM_020631.4(PLEKHG5):c.83C>T (p.Pro28Leu) rs143585428
NM_020631.4(PLEKHG5):c.86C>T (p.Pro29Leu)
NM_020631.4(PLEKHG5):c.877C>T (p.Arg293Cys) rs374645103
NM_020631.4(PLEKHG5):c.89G>A (p.Arg30His)
NM_020631.4(PLEKHG5):c.916G>A (p.Asp306Asn) rs781614887
NM_020631.4(PLEKHG5):c.931A>C (p.Asn311His) rs146020517
NM_020631.4(PLEKHG5):c.997C>T (p.Arg333Trp) rs148232621
NM_021625.4(TRPV4):c.1006C>T (p.Arg336Cys) rs781229110
NM_021625.4(TRPV4):c.1093G>A (p.Val365Met) rs570675468
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.1199G>A (p.Arg400Gln) rs926925253
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.1378C>T (p.Arg460Trp) rs34227547
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=)
NM_021625.4(TRPV4):c.1439G>T (p.Cys480Phe) rs943346163
NM_021625.4(TRPV4):c.1450A>G (p.Ile484Val) rs1555206591
NM_021625.4(TRPV4):c.1465G>A (p.Ala489Thr)
NM_021625.4(TRPV4):c.1491+5G>A
NM_021625.4(TRPV4):c.1493C>T (p.Pro498Leu) rs1051494811
NM_021625.4(TRPV4):c.1514C>T (p.Thr505Met)
NM_021625.4(TRPV4):c.1522T>C (p.Tyr508His)
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.1577T>G (p.Phe526Cys) rs1329377960
NM_021625.4(TRPV4):c.1584C>T (p.Asn528=)
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.1729G>A (p.Val577Met)
NM_021625.4(TRPV4):c.1825-8G>A
NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn)
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.2162C>G (p.Thr721Arg)
NM_021625.4(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_021625.4(TRPV4):c.229A>G (p.Lys77Glu)
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919
NM_021625.4(TRPV4):c.2432C>T (p.Ser811Leu)
NM_021625.4(TRPV4):c.2440G>T (p.Val814Leu) rs202075458
NM_021625.4(TRPV4):c.2452C>T (p.Arg818Cys) rs776544875
NM_021625.4(TRPV4):c.2456G>A (p.Arg819Lys)
NM_021625.4(TRPV4):c.2482C>A (p.Arg828Ser)
NM_021625.4(TRPV4):c.2489T>C (p.Val830Ala)
NM_021625.4(TRPV4):c.2495T>G (p.Leu832Arg)
NM_021625.4(TRPV4):c.2570A>G (p.Gln857Arg) rs1262126429
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.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.479G>A (p.Arg160Gln) rs139300843
NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) rs146304351
NM_021625.4(TRPV4):c.556C>T (p.Arg186Ter)
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.646A>G (p.Ile216Val) rs1318320106
NM_021625.4(TRPV4):c.649G>A (p.Ala217Thr) rs187864727
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.670_671delAGinsCA (p.Arg224Gln) rs1555208643
NM_021625.4(TRPV4):c.686C>T (p.Ser229Leu)
NM_021625.4(TRPV4):c.701T>C (p.Ile234Thr) rs1555208627
NM_021625.4(TRPV4):c.711A>G (p.Arg237=) rs927188562
NM_021625.4(TRPV4):c.712+5G>A rs372251308
NM_021625.4(TRPV4):c.746G>A (p.Arg249His)
NM_021625.4(TRPV4):c.805C>A (p.Arg269Ser) rs267607146
NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023
NM_021625.4(TRPV4):c.915G>A (p.Thr305=)
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val)
NM_021625.4(TRPV4):c.940A>G (p.Met314Val) rs151101009
NM_021625.4(TRPV4):c.956C>T (p.Ser319Leu) rs377518118
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_021629.3(GNB4):c.16C>G (p.Gln6Glu)
NM_021629.3(GNB4):c.196G>A (p.Asp66Asn) rs864622729
NM_021629.3(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021629.3(GNB4):c.44G>A (p.Arg15Gln)
NM_021629.3(GNB4):c.596T>A (p.Phe199Tyr)
NM_021629.3(GNB4):c.598G>A (p.Val200Ile)
NM_021629.3(GNB4):c.700-3T>C
NM_021629.3(GNB4):c.714A>G (p.Gly238=)
NM_021629.3(GNB4):c.786_788delATT (p.Leu263del)
NM_021629.3(GNB4):c.799G>A (p.Asp267Asn) rs752762550
NM_021629.3(GNB4):c.848G>C (p.Arg283Pro) rs186593898
NM_021629.3(GNB4):c.853T>G (p.Leu285Val) rs554623238
NM_021629.3(GNB4):c.903A>T (p.Lys301Asn) rs1167931862
NM_021629.3(GNB4):c.908A>C (p.Asp303Ala)
NM_021629.3(GNB4):c.923T>C (p.Leu308Pro)
NM_021629.3(GNB4):c.939_940delCC (p.Asn313Lysfs)
NM_022489.3(INF2):c.148T>G (p.Tyr50Asp) rs1555373261
NM_022489.3(INF2):c.150C>A (p.Tyr50Ter) rs1555373267
NM_022489.3(INF2):c.1771G>A (p.Asp591Asn) rs369421697
NM_022489.3(INF2):c.1771G>C (p.Asp591His) rs369421697
NM_022489.3(INF2):c.1811G>A (p.Arg604Gln)
NM_022489.3(INF2):c.186C>T (p.Gly62=) rs1555373276
NM_022489.3(INF2):c.1888-8T>G
NM_022489.3(INF2):c.1950-3C>A
NM_022489.3(INF2):c.1957G>A (p.Glu653Lys) rs368576387
NM_022489.3(INF2):c.1962G>C (p.Glu654Asp) rs1378876029
NM_022489.3(INF2):c.1966G>A (p.Ala656Thr)
NM_022489.3(INF2):c.2052+3A>G rs1382855956
NM_022489.3(INF2):c.2053A>G (p.Ile685Val) rs199526439
NM_022489.3(INF2):c.2087C>G (p.Ala696Gly)
NM_022489.3(INF2):c.2155G>A (p.Glu719Lys) rs775500020
NM_022489.3(INF2):c.2188G>A (p.Val730Met) rs373199310
NM_022489.3(INF2):c.218G>T (p.Gly73Val) rs918089359
NM_022489.3(INF2):c.221T>G (p.Leu74Arg)
NM_022489.3(INF2):c.2236G>A (p.Glu746Lys) rs569586169
NM_022489.3(INF2):c.2418+3G>A
NM_022489.3(INF2):c.2440G>A (p.Asp814Asn) rs373532334
NM_022489.3(INF2):c.2489G>T (p.Gly830Val)
NM_022489.3(INF2):c.2509C>T (p.Arg837Cys) rs201534539
NM_022489.3(INF2):c.2641G>A (p.Glu881Lys) rs1314746427
NM_022489.3(INF2):c.2659G>A (p.Glu887Lys) rs748529803
NM_022489.3(INF2):c.265G>A (p.Val89Ile) rs765566674
NM_022489.3(INF2):c.2672G>A (p.Arg891Gln) rs777498088
NM_022489.3(INF2):c.2683G>A (p.Asp895Asn) rs776314008
NM_022489.3(INF2):c.2755C>G (p.Leu919Val) rs377145979
NM_022489.3(INF2):c.2767_2773delGCCCTGA (p.Ala923Argfs)
NM_022489.3(INF2):c.2801C>T (p.Ala934Val)
NM_022489.3(INF2):c.2804C>T (p.Ala935Val)
NM_022489.3(INF2):c.2858G>A (p.Arg953Gln) rs1385146569
NM_022489.3(INF2):c.2885A>C (p.Lys962Thr) rs376067427
NM_022489.3(INF2):c.2977C>G (p.Arg993Gly) rs935688609
NM_022489.3(INF2):c.2984A>G (p.Asp995Gly) rs748234626
NM_022489.3(INF2):c.2987C>T (p.Thr996Ile) rs377414980
NM_022489.3(INF2):c.2989G>A (p.Asp997Asn) rs370719592
NM_022489.3(INF2):c.3059C>T (p.Ala1020Val) rs368372551
NM_022489.3(INF2):c.3082C>T (p.Arg1028Cys)
NM_022489.3(INF2):c.3083G>A (p.Arg1028His)
NM_022489.3(INF2):c.3103G>A (p.Gly1035Ser) rs368995122
NM_022489.3(INF2):c.3126C>T (p.Ser1042=) rs1035033414
NM_022489.3(INF2):c.3133C>T (p.Arg1045Trp) rs780428043
NM_022489.3(INF2):c.3194A>C (p.Glu1065Ala)
NM_022489.3(INF2):c.3206C>T (p.Pro1069Leu) rs376139171
NM_022489.3(INF2):c.3221G>A (p.Arg1074Lys) rs201445955
NM_022489.3(INF2):c.3224G>A (p.Arg1075His) rs370169829
NM_022489.3(INF2):c.3260C>T (p.Thr1087Ile)
NM_022489.3(INF2):c.3412C>G (p.Leu1138Val) rs759925463
NM_022489.3(INF2):c.3476G>A (p.Arg1159His) rs200591522
NM_022489.3(INF2):c.3535A>G (p.Thr1179Ala) rs778879482
NM_022489.3(INF2):c.3550G>A (p.Ala1184Thr) rs374684004
NM_022489.3(INF2):c.3563C>T (p.Ser1188Phe) rs201715539
NM_022489.3(INF2):c.3579C>G (p.Phe1193Leu) rs1555375657
NM_022489.3(INF2):c.3598G>C (p.Asp1200His) rs764338863
NM_022489.3(INF2):c.3606G>A (p.Ser1202=) rs756383109
NM_022489.3(INF2):c.3625A>G (p.Arg1209Gly) rs989477091
NM_022489.3(INF2):c.3637C>T (p.Arg1213Trp) rs200823300
NM_022489.3(INF2):c.3648G>T (p.Lys1216Asn) rs139196357
NM_022489.3(INF2):c.3662G>C (p.Arg1221Pro)
NM_022489.3(INF2):c.3703C>T (p.Pro1235Ser) rs201091360
NM_022489.3(INF2):c.3704_3705delCT (p.Pro1235Argfs)
NM_022489.3(INF2):c.3714T>A (p.Asp1238Glu)
NM_022489.3(INF2):c.3740_3741delTG (p.Val1247Aspfs) rs753327806
NM_022489.3(INF2):c.397G>A (p.Asp133Asn) rs774135330
NM_022489.3(INF2):c.409G>A (p.Val137Met)
NM_022489.3(INF2):c.410T>G (p.Val137Gly) rs760611306
NM_022489.3(INF2):c.440T>C (p.Leu147Pro) rs1555373588
NM_022489.3(INF2):c.554T>C (p.Leu185Pro) rs1555373625
NM_022489.3(INF2):c.598G>A (p.Val200Met)
NM_022489.3(INF2):c.610G>A (p.Val204Ile)
NM_022489.3(INF2):c.733C>G (p.Leu245Val) rs765986755
NM_022489.3(INF2):c.799G>A (p.Asp267Asn)
NM_022489.3(INF2):c.850T>C (p.Cys284Arg)
NM_022489.3(INF2):c.916C>T (p.Arg306Cys)
NM_022489.3(INF2):c.967G>A (p.Val323Met) rs761806103
NM_024577.3(SH3TC2):c.101C>A (p.Ala34Asp)
NM_024577.3(SH3TC2):c.1040G>C (p.Cys347Ser)
NM_024577.3(SH3TC2):c.1177+5G>A
NM_024577.3(SH3TC2):c.1194_1195delTTinsCC (p.Phe399Leu) rs1554121791
NM_024577.3(SH3TC2):c.11G>T (p.Cys4Phe)
NM_024577.3(SH3TC2):c.1240G>A (p.Val414Met)
NM_024577.3(SH3TC2):c.1244G>T (p.Gly415Val)
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys)
NM_024577.3(SH3TC2):c.1325C>T (p.Pro442Leu) rs370613184
NM_024577.3(SH3TC2):c.1355T>C (p.Leu452Pro) rs1235312791
NM_024577.3(SH3TC2):c.1401C>A (p.Phe467Leu)
NM_024577.3(SH3TC2):c.1402_1403delGCinsTT (p.Ala468Phe) rs863224780
NM_024577.3(SH3TC2):c.1431G>A (p.Glu477=) rs887057321
NM_024577.3(SH3TC2):c.1469_1471delCCT (p.Ser490del) rs755728218
NM_024577.3(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543
NM_024577.3(SH3TC2):c.1522G>A (p.Val508Met) rs148155691
NM_024577.3(SH3TC2):c.1585_1587delCGTinsTGG (p.Arg529Trp) rs863224781
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.1654G>A (p.Glu552Lys)
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)
NM_024577.3(SH3TC2):c.1768G>A (p.Ala590Thr)
NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His) rs186864272
NM_024577.3(SH3TC2):c.1861C>T (p.Arg621Cys) rs201403149
NM_024577.3(SH3TC2):c.1922G>A (p.Arg641His)
NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His) rs138040787
NM_024577.3(SH3TC2):c.200A>G (p.Asn67Ser)
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)
NM_024577.3(SH3TC2):c.2215A>G (p.Met739Val)
NM_024577.3(SH3TC2):c.2263A>C (p.Thr755Pro)
NM_024577.3(SH3TC2):c.2273C>A (p.Ala758Asp) rs200006756
NM_024577.3(SH3TC2):c.2285T>C (p.Ile762Thr) rs751351645
NM_024577.3(SH3TC2):c.2306A>G (p.Glu769Gly) rs151317042
NM_024577.3(SH3TC2):c.2348C>T (p.Ala783Val) rs377372640
NM_024577.3(SH3TC2):c.2407G>A (p.Ala803Thr)
NM_024577.3(SH3TC2):c.2470T>C (p.Cys824Arg) rs1554121601
NM_024577.3(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766
NM_024577.3(SH3TC2):c.2528G>A (p.Gly843Glu) rs1463859150
NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150
NM_024577.3(SH3TC2):c.2549G>C (p.Gly850Ala)
NM_024577.3(SH3TC2):c.2552G>A (p.Arg851Gln) rs751621364
NM_024577.3(SH3TC2):c.2578C>T (p.Leu860Phe) rs139958177
NM_024577.3(SH3TC2):c.257A>G (p.Gln86Arg)
NM_024577.3(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473
NM_024577.3(SH3TC2):c.259G>C (p.Glu87Gln) rs947749200
NM_024577.3(SH3TC2):c.2671G>A (p.Ala891Thr) rs779223727
NM_024577.3(SH3TC2):c.279+4A>G
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852
NM_024577.3(SH3TC2):c.2897T>C (p.Leu966Pro) rs1060501469
NM_024577.3(SH3TC2):c.2935G>T (p.Ala979Ser)
NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427
NM_024577.3(SH3TC2):c.2989C>T (p.Arg997Trp)
NM_024577.3(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699
NM_024577.3(SH3TC2):c.3034C>T (p.Arg1012Trp) rs541197556
NM_024577.3(SH3TC2):c.3039C>A (p.Asn1013Lys) rs753381949
NM_024577.3(SH3TC2):c.3077G>A (p.Cys1026Tyr) rs367656036
NM_024577.3(SH3TC2):c.3094C>T (p.Arg1032Cys) rs375603885
NM_024577.3(SH3TC2):c.3099C>G (p.Ile1033Met) rs1554120576
NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602
NM_024577.3(SH3TC2):c.3149C>T (p.Ala1050Val) rs570067509
NM_024577.3(SH3TC2):c.3157C>T (p.Leu1053Phe)
NM_024577.3(SH3TC2):c.3160C>T (p.His1054Tyr) rs769133498
NM_024577.3(SH3TC2):c.3166C>T (p.Leu1056Phe) rs201805333
NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843
NM_024577.3(SH3TC2):c.3283T>C (p.Phe1095Leu)
NM_024577.3(SH3TC2):c.3293C>T (p.Thr1098Ile) rs199514987
NM_024577.3(SH3TC2):c.32G>A (p.Arg11Gln)
NM_024577.3(SH3TC2):c.3364G>A (p.Val1122Met) rs1554120326
NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433
NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608
NM_024577.3(SH3TC2):c.3512G>C (p.Arg1171Pro) rs200728983
NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273
NM_024577.3(SH3TC2):c.3610A>G (p.Lys1204Glu) rs571409696
NM_024577.3(SH3TC2):c.3644G>A (p.Arg1215His) rs145390629
NM_024577.3(SH3TC2):c.3757A>G (p.Ile1253Val) rs147931490
NM_024577.3(SH3TC2):c.3833C>T (p.Ala1278Val) rs374516818
NM_024577.3(SH3TC2):c.3835C>T (p.Arg1279Trp)
NM_024577.3(SH3TC2):c.3847G>C (p.Gly1283Arg) rs370844006
NM_024577.3(SH3TC2):c.385+3A>G
NM_024577.3(SH3TC2):c.3852_3854delTGG (p.Gly1285del) rs1554120043
NM_024577.3(SH3TC2):c.46G>A (p.Gly16Ser) rs753975938
NM_024577.3(SH3TC2):c.4G>A (p.Gly2Ser) rs1554124107
NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) rs147633804
NM_024577.3(SH3TC2):c.539_541delTCT (p.Phe180del) rs763476083
NM_024577.3(SH3TC2):c.560T>C (p.Val187Ala) rs1554122762
NM_024577.3(SH3TC2):c.574G>A (p.Glu192Lys)
NM_024577.3(SH3TC2):c.661T>C (p.Ser221Pro)
NM_024577.3(SH3TC2):c.680G>A (p.Arg227Gln) rs1257812868
NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) rs148634904
NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732
NM_024577.3(SH3TC2):c.794C>T (p.Ser265Phe) rs149873249
NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676
NM_024577.3(SH3TC2):c.82G>C (p.Val28Leu) rs1399431033
NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met) rs757969875
NM_024577.3(SH3TC2):c.86C>T (p.Ser29Leu) rs559570623
NM_024577.3(SH3TC2):c.89G>A (p.Ser30Asn) rs765890403
NM_024577.3(SH3TC2):c.908C>A (p.Pro303His) rs778572329
NM_024577.3(SH3TC2):c.929G>A (p.Gly310Glu)
NM_024577.3(SH3TC2):c.935C>T (p.Ser312Leu) rs151205080
NM_024577.3(SH3TC2):c.956G>T (p.Gly319Val) rs753423455
NM_030962.3(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
NM_030962.3(SBF2):c.1061A>C (p.Glu354Ala) rs761829741
NM_030962.3(SBF2):c.1067G>A (p.Arg356Gln) rs188588431
NM_030962.3(SBF2):c.1130T>G (p.Ile377Arg) rs371432409
NM_030962.3(SBF2):c.1222C>G (p.Leu408Val)
NM_030962.3(SBF2):c.1226G>T (p.Ser409Ile)
NM_030962.3(SBF2):c.129G>A (p.Gln43=) rs761285505
NM_030962.3(SBF2):c.1327G>C (p.Val443Leu) rs765958389
NM_030962.3(SBF2):c.1333G>A (p.Glu445Lys)
NM_030962.3(SBF2):c.1337A>G (p.Asn446Ser)
NM_030962.3(SBF2):c.136G>C (p.Glu46Gln) rs878855130
NM_030962.3(SBF2):c.1395+8_1395+11delAGTA rs763174480
NM_030962.3(SBF2):c.1396-6T>C rs369973804
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) rs199894823
NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys) rs139217120
NM_030962.3(SBF2):c.1573T>C (p.Cys525Arg) rs746860317
NM_030962.3(SBF2):c.1594C>T (p.Pro532Ser) rs1001858508
NM_030962.3(SBF2):c.1610T>C (p.Met537Thr) rs1278738726
NM_030962.3(SBF2):c.1618G>T (p.Val540Leu) rs201806063
NM_030962.3(SBF2):c.1768G>A (p.Asp590Asn)
NM_030962.3(SBF2):c.1894G>A (p.Ala632Thr) rs1386270581
NM_030962.3(SBF2):c.1967G>C (p.Cys656Ser) rs138120231
NM_030962.3(SBF2):c.2014A>G (p.Thr672Ala)
NM_030962.3(SBF2):c.2050C>G (p.Leu684Val) rs146987383
NM_030962.3(SBF2):c.2081C>T (p.Ala694Val)
NM_030962.3(SBF2):c.215A>C (p.Asp72Ala) rs1060500000
NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu) rs145199888
NM_030962.3(SBF2):c.2254A>G (p.Asn752Asp) rs775455068
NM_030962.3(SBF2):c.2260A>T (p.Met754Leu)
NM_030962.3(SBF2):c.2329T>G (p.Trp777Gly)
NM_030962.3(SBF2):c.2338G>A (p.Gly780Arg) rs775404093
NM_030962.3(SBF2):c.2350A>G (p.Ile784Val) rs758912920
NM_030962.3(SBF2):c.2424T>A (p.Asn808Lys)
NM_030962.3(SBF2):c.2431A>G (p.Ile811Val) rs764765082
NM_030962.3(SBF2):c.2450G>A (p.Arg817Gln) rs369653070
NM_030962.3(SBF2):c.2457T>G (p.Ile819Met)
NM_030962.3(SBF2):c.2474A>G (p.Lys825Arg) rs753921188
NM_030962.3(SBF2):c.2516G>C (p.Ser839Thr) rs1060500002
NM_030962.3(SBF2):c.257A>T (p.Tyr86Phe) rs745669920
NM_030962.3(SBF2):c.2689G>A (p.Gly897Arg) rs1554924568
NM_030962.3(SBF2):c.2789C>T (p.Thr930Ile)
NM_030962.3(SBF2):c.2795A>G (p.His932Arg) rs1554924467
NM_030962.3(SBF2):c.2819C>T (p.Thr940Ile) rs756720332
NM_030962.3(SBF2):c.2828G>A (p.Arg943Gln) rs753298285
NM_030962.3(SBF2):c.2872A>G (p.Met958Val) rs901770002
NM_030962.3(SBF2):c.2938A>G (p.Ile980Val)
NM_030962.3(SBF2):c.2963T>G (p.Val988Gly) rs778766567
NM_030962.3(SBF2):c.3001A>T (p.Met1001Leu) rs781742897
NM_030962.3(SBF2):c.3006G>T (p.Lys1002Asn) rs572884226
NM_030962.3(SBF2):c.3040G>A (p.Ala1014Thr)
NM_030962.3(SBF2):c.3086A>G (p.Gln1029Arg)
NM_030962.3(SBF2):c.3110G>C (p.Arg1037Pro) rs748477865
NM_030962.3(SBF2):c.3127A>G (p.Ile1043Val) rs147438385
NM_030962.3(SBF2):c.313A>G (p.Lys105Glu)
NM_030962.3(SBF2):c.3163A>G (p.Ile1055Val) rs142891020
NM_030962.3(SBF2):c.3169C>T (p.Arg1057Trp) rs536949808
NM_030962.3(SBF2):c.3170G>A (p.Arg1057Gln) rs138612196
NM_030962.3(SBF2):c.3203T>G (p.Ile1068Ser)
NM_030962.3(SBF2):c.3283A>G (p.Ser1095Gly) rs2942402
NM_030962.3(SBF2):c.3304G>A (p.Glu1102Lys) rs778262784
NM_030962.3(SBF2):c.3433A>G (p.Arg1145Gly) rs145647154
NM_030962.3(SBF2):c.3436A>T (p.Met1146Leu) rs377277274
NM_030962.3(SBF2):c.3451C>T (p.Arg1151Trp) rs140550985
NM_030962.3(SBF2):c.3457T>C (p.Tyr1153His) rs1060499998
NM_030962.3(SBF2):c.3466C>T (p.Leu1156Phe)
NM_030962.3(SBF2):c.3587G>A (p.Arg1196Gln)
NM_030962.3(SBF2):c.3617T>C (p.Val1206Ala) rs766573319
NM_030962.3(SBF2):c.3712T>A (p.Leu1238Ile)
NM_030962.3(SBF2):c.3745A>G (p.Arg1249Gly) rs1554914278
NM_030962.3(SBF2):c.3761T>C (p.Leu1254Pro) rs762211340
NM_030962.3(SBF2):c.3812G>A (p.Arg1271His)
NM_030962.3(SBF2):c.3824G>A (p.Arg1275His) rs150028248
NM_030962.3(SBF2):c.3831C>G (p.Ile1277Met) rs139522696
NM_030962.3(SBF2):c.3877A>G (p.Lys1293Glu) rs200594508
NM_030962.3(SBF2):c.3887C>T (p.Ser1296Leu)
NM_030962.3(SBF2):c.389C>T (p.Pro130Leu)
NM_030962.3(SBF2):c.3931A>G (p.Lys1311Glu)
NM_030962.3(SBF2):c.3938A>G (p.Gln1313Arg) rs1554909178
NM_030962.3(SBF2):c.3989T>C (p.Val1330Ala) rs147350002
NM_030962.3(SBF2):c.4038C>G (p.Ile1346Met)
NM_030962.3(SBF2):c.4102G>A (p.Asp1368Asn)
NM_030962.3(SBF2):c.4120C>G (p.Leu1374Val) rs746286799
NM_030962.3(SBF2):c.415T>G (p.Leu139Val) rs146361949
NM_030962.3(SBF2):c.427G>A (p.Val143Met) rs142469360
NM_030962.3(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359
NM_030962.3(SBF2):c.4465G>A (p.Glu1489Lys) rs864622502
NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330
NM_030962.3(SBF2):c.4523G>A (p.Arg1508His) rs770619905
NM_030962.3(SBF2):c.4603G>A (p.Ala1535Thr) rs546392558
NM_030962.3(SBF2):c.4666T>C (p.Phe1556Leu) rs189911105
NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255
NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg)
NM_030962.3(SBF2):c.4890T>A (p.Asp1630Glu) rs963997810
NM_030962.3(SBF2):c.4933-13_4933-9delAATTT
NM_030962.3(SBF2):c.4960A>C (p.Asn1654His)
NM_030962.3(SBF2):c.5014_5016delAAA (p.Lys1672del) rs750958357
NM_030962.3(SBF2):c.5016A>G (p.Lys1672=)
NM_030962.3(SBF2):c.5017G>A (p.Glu1673Lys) rs764823510
NM_030962.3(SBF2):c.5020_5022delGAA (p.Glu1674del) rs572571832
NM_030962.3(SBF2):c.5035C>T (p.Arg1679Cys) rs79401259
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) rs200784979
NM_030962.3(SBF2):c.5054C>G (p.Ser1685Trp) rs148468522
NM_030962.3(SBF2):c.5102G>A (p.Arg1701Lys)
NM_030962.3(SBF2):c.513+4A>G rs1554990552
NM_030962.3(SBF2):c.5205G>C (p.Gln1735His) rs878855131
NM_030962.3(SBF2):c.5209A>T (p.Thr1737Ser)
NM_030962.3(SBF2):c.5245A>G (p.Thr1749Ala) rs1288312315
NM_030962.3(SBF2):c.527T>C (p.Leu176Ser) rs1554990128
NM_030962.3(SBF2):c.5375C>G (p.Ala1792Gly)
NM_030962.3(SBF2):c.5375C>T (p.Ala1792Val) rs1554897834
NM_030962.3(SBF2):c.5410A>G (p.Met1804Val) rs755264093
NM_030962.3(SBF2):c.546G>T (p.Gln182His) rs886047534
NM_030962.3(SBF2):c.5483G>A (p.Cys1828Tyr)
NM_030962.3(SBF2):c.568G>A (p.Asp190Asn)
NM_030962.3(SBF2):c.586G>A (p.Gly196Ser)
NM_030962.3(SBF2):c.700C>T (p.Leu234Phe) rs749378136
NM_030962.3(SBF2):c.735G>A (p.Met245Ile) rs1554981022
NM_030962.3(SBF2):c.747A>G (p.Lys249=) rs1554981019
NM_030962.3(SBF2):c.769A>G (p.Ile257Val) rs756866661
NM_030962.3(SBF2):c.783G>T (p.Gln261His)
NM_030962.3(SBF2):c.796C>G (p.Leu266Val)
NM_030962.3(SBF2):c.832T>A (p.Ser278Thr) rs746749228
NM_030962.3(SBF2):c.898A>G (p.Ile300Val) rs141669540
NM_030962.3(SBF2):c.925T>G (p.Ser309Ala) rs1300253311
NM_138361.5(LRSAM1):c.1013G>A (p.Arg338Gln) rs762000052
NM_138361.5(LRSAM1):c.103G>A (p.Asp35Asn) rs551183702
NM_138361.5(LRSAM1):c.1043+5G>A rs780868977
NM_138361.5(LRSAM1):c.1067T>C (p.Leu356Ser) rs142958539
NM_138361.5(LRSAM1):c.1076T>G (p.Leu359Arg)
NM_138361.5(LRSAM1):c.1109T>C (p.Met370Thr) rs377079293
NM_138361.5(LRSAM1):c.1145G>A (p.Arg382Gln)
NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile)
NM_138361.5(LRSAM1):c.1160C>A (p.Ser387Tyr) rs758094270
NM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223
NM_138361.5(LRSAM1):c.122T>C (p.Leu41Pro)
NM_138361.5(LRSAM1):c.1236C>A (p.Asn412Lys)
NM_138361.5(LRSAM1):c.1264G>T (p.Ala422Ser)
NM_138361.5(LRSAM1):c.1348-1G>A rs747659617
NM_138361.5(LRSAM1):c.1352C>T (p.Ala451Val) rs751593173
NM_138361.5(LRSAM1):c.1367C>T (p.Ala456Val)
NM_138361.5(LRSAM1):c.1422+6C>T rs745690669
NM_138361.5(LRSAM1):c.1504-5C>G rs377190920
NM_138361.5(LRSAM1):c.1510A>T (p.Ile504Phe) rs1472578658
NM_138361.5(LRSAM1):c.1537T>C (p.Ser513Pro) rs748161826
NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662
NM_138361.5(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185
NM_138361.5(LRSAM1):c.1717C>A (p.Gln573Lys) rs150882646
NM_138361.5(LRSAM1):c.1747G>A (p.Ala583Thr)
NM_138361.5(LRSAM1):c.1780C>T (p.Arg594Cys) rs150062009
NM_138361.5(LRSAM1):c.1806A>T (p.Gln602His)
NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile)
NM_138361.5(LRSAM1):c.184G>A (p.Val62Ile) rs570688892
NM_138361.5(LRSAM1):c.1877T>G (p.Val626Gly) rs574202204
NM_138361.5(LRSAM1):c.1892A>G (p.Asp631Gly)
NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_138361.5(LRSAM1):c.1936G>A (p.Val646Ile) rs748358043
NM_138361.5(LRSAM1):c.1939G>A (p.Val647Ile) rs879254326
NM_138361.5(LRSAM1):c.1963C>T (p.Pro655Ser)
NM_138361.5(LRSAM1):c.2036T>C (p.Leu679Pro)
NM_138361.5(LRSAM1):c.2041C>T (p.Arg681Trp)
NM_138361.5(LRSAM1):c.2042G>A (p.Arg681Gln) rs143479340
NM_138361.5(LRSAM1):c.2042G>C (p.Arg681Pro)
NM_138361.5(LRSAM1):c.2043_2044dup (p.Glu682Glyfs) rs1554762671
NM_138361.5(LRSAM1):c.2047-1G>A
NM_138361.5(LRSAM1):c.2062C>A (p.Leu688Ile) rs765956865
NM_138361.5(LRSAM1):c.206C>G (p.Ser69Cys) rs942116544
NM_138361.5(LRSAM1):c.2076C>A (p.His692Gln) rs753650841
NM_138361.5(LRSAM1):c.2093_2104delAGTGCTGCCAGC (p.Gln698_Gln701del) rs1554763017
NM_138361.5(LRSAM1):c.2095T>C (p.Cys699Arg) rs1341295542
NM_138361.5(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897
NM_138361.5(LRSAM1):c.2146C>T (p.Arg716Cys)
NM_138361.5(LRSAM1):c.2152C>T (p.Arg718Cys)
NM_138361.5(LRSAM1):c.2153G>A (p.Arg718His) rs764890552
NM_138361.5(LRSAM1):c.252+1G>A rs1554753670
NM_138361.5(LRSAM1):c.300G>A (p.Leu100=)
NM_138361.5(LRSAM1):c.375C>A (p.Asn125Lys)
NM_138361.5(LRSAM1):c.388C>T (p.Gln130Ter) rs1554754342
NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137
NM_138361.5(LRSAM1):c.436G>C (p.Val146Leu) rs555377969
NM_138361.5(LRSAM1):c.497C>T (p.Pro166Leu) rs142085060
NM_138361.5(LRSAM1):c.528G>A (p.Glu176=)
NM_138361.5(LRSAM1):c.563C>T (p.Pro188Leu) rs138830549
NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210
NM_138361.5(LRSAM1):c.580G>A (p.Gly194Ser)
NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394
NM_138361.5(LRSAM1):c.593C>A (p.Ala198Glu) rs758867006
NM_138361.5(LRSAM1):c.593C>T (p.Ala198Val) rs758867006
NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685
NM_138361.5(LRSAM1):c.620-3C>T rs373015900
NM_138361.5(LRSAM1):c.64A>T (p.Met22Leu)
NM_138361.5(LRSAM1):c.695G>A (p.Arg232Gln)
NM_138361.5(LRSAM1):c.717G>A (p.Thr239=) rs769930277
NM_138361.5(LRSAM1):c.82G>T (p.Ala28Ser)
NM_138361.5(LRSAM1):c.89C>A (p.Ala30Glu) rs769070078
NM_138361.5(LRSAM1):c.913C>T (p.Arg305Trp) rs376566243
NM_138361.5(LRSAM1):c.91G>A (p.Asp31Asn)
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835
NM_138361.5(LRSAM1):c.962G>A (p.Arg321Gln) rs145881988
NM_138773.2(SLC25A46):c.803C>T (p.Thr268Met) rs751900293
NM_138773.3(SLC25A46):c.1036A>G (p.Thr346Ala)
NM_138773.3(SLC25A46):c.1070A>G (p.Tyr357Cys)
NM_138773.3(SLC25A46):c.1135G>C (p.Glu379Gln)
NM_138773.3(SLC25A46):c.1213A>G (p.Ile405Val)
NM_138773.3(SLC25A46):c.134C>T (p.Thr45Ile) rs1554091122
NM_138773.3(SLC25A46):c.148C>A (p.Pro50Thr) rs147648476
NM_138773.3(SLC25A46):c.194G>C (p.Gly65Ala) rs1410055577
NM_138773.3(SLC25A46):c.196G>T (p.Val66Leu) rs758140632
NM_138773.3(SLC25A46):c.23G>C (p.Gly8Ala)
NM_138773.3(SLC25A46):c.385G>A (p.Val129Ile)
NM_138773.3(SLC25A46):c.410A>G (p.His137Arg)
NM_138773.3(SLC25A46):c.427G>A (p.Val143Ile) rs1554092069
NM_138773.3(SLC25A46):c.44G>A (p.Arg15Gln) rs372382932
NM_138773.3(SLC25A46):c.458C>A (p.Thr153Asn)
NM_138773.3(SLC25A46):c.46G>T (p.Gly16Cys) rs770562376
NM_138773.3(SLC25A46):c.50G>A (p.Gly17Asp)
NM_138773.3(SLC25A46):c.55C>A (p.Arg19=)
NM_138773.3(SLC25A46):c.598G>A (p.Gly200Arg)
NM_138773.3(SLC25A46):c.620C>A (p.Ser207Tyr)
NM_138773.3(SLC25A46):c.63G>T (p.Glu21Asp)
NM_138773.3(SLC25A46):c.776T>G (p.Leu259Arg) rs150754737
NM_138773.3(SLC25A46):c.804G>A (p.Thr268=) rs757342761
NM_138773.3(SLC25A46):c.849G>C (p.Gln283His)
NM_138773.3(SLC25A46):c.887A>G (p.Asn296Ser) rs201789237
NM_139241.3(FGD4):c.1033A>G (p.Met345Val)
NM_139241.3(FGD4):c.1061G>A (p.Arg354Gln) rs1415031307
NM_139241.3(FGD4):c.1091G>C (p.Arg364Thr)
NM_139241.3(FGD4):c.1135T>G (p.Ser379Ala) rs1396328756
NM_139241.3(FGD4):c.1175G>A (p.Ser392Asn) rs781528826
NM_139241.3(FGD4):c.1192-9A>G rs1555217855
NM_139241.3(FGD4):c.1198C>G (p.Leu400Val) rs750265200
NM_139241.3(FGD4):c.1242_1244delAGA (p.Glu414del)
NM_139241.3(FGD4):c.1246A>G (p.Ile416Val) rs1060501903
NM_139241.3(FGD4):c.1258T>A (p.Ser420Thr) rs759385629
NM_139241.3(FGD4):c.1327T>C (p.Tyr443His) rs1555217941
NM_139241.3(FGD4):c.1348A>G (p.Met450Val) rs201186597
NM_139241.3(FGD4):c.1511+4A>G rs760192025
NM_139241.3(FGD4):c.1562A>G (p.Asp521Gly) rs141237776
NM_139241.3(FGD4):c.1711C>G (p.Pro571Ala) rs144693221
NM_139241.3(FGD4):c.1712C>A (p.Pro571His) rs145071617
NM_139241.3(FGD4):c.184C>T (p.Pro62Ser) rs1555209302
NM_139241.3(FGD4):c.1877A>T (p.Glu626Val) rs1484964809
NM_139241.3(FGD4):c.1929C>A (p.Asn643Lys) rs1555224749
NM_139241.3(FGD4):c.192A>G (p.Gln64=) rs771558628
NM_139241.3(FGD4):c.1991G>C (p.Cys664Ser)
NM_139241.3(FGD4):c.2041delC (p.Gln681Argfs) rs1060501904
NM_139241.3(FGD4):c.2101A>G (p.Arg701Gly)
NM_139241.3(FGD4):c.2197A>G (p.Lys733Glu)
NM_139241.3(FGD4):c.2199A>C (p.Lys733Asn) rs770729087
NM_139241.3(FGD4):c.329T>C (p.Leu110Pro) rs142609007
NM_139241.3(FGD4):c.374C>G (p.Thr125Arg)
NM_139241.3(FGD4):c.381A>G (p.Ile127Met) rs774466701
NM_139241.3(FGD4):c.437G>T (p.Ser146Ile) rs1208033042
NM_139241.3(FGD4):c.443A>T (p.Asp148Val)
NM_139241.3(FGD4):c.50C>G (p.Pro17Arg) rs371407163
NM_139241.3(FGD4):c.539A>G (p.Glu180Gly) rs1452437045
NM_139241.3(FGD4):c.542G>A (p.Arg181Lys)
NM_139241.3(FGD4):c.569T>A (p.Leu190Gln) rs144980336
NM_139241.3(FGD4):c.58G>A (p.Val20Ile) rs755068251
NM_139241.3(FGD4):c.593A>G (p.Glu198Gly)
NM_139241.3(FGD4):c.667A>C (p.Asn223His) rs761788290
NM_139241.3(FGD4):c.740C>T (p.Ala247Val) rs1295394925
NM_139241.3(FGD4):c.955C>T (p.Arg319Cys) rs1131691854
NM_181882.2(PRX):c.1013C>T (p.Ala338Val)
NM_181882.2(PRX):c.1019C>T (p.Pro340Leu) rs780373582
NM_181882.2(PRX):c.1100C>A (p.Ala367Asp) rs143400291
NM_181882.2(PRX):c.1141A>C (p.Ser381Arg) rs1049349860
NM_181882.2(PRX):c.1144C>G (p.Pro382Ala)
NM_181882.2(PRX):c.1222C>T (p.Pro408Ser) rs150244426
NM_181882.2(PRX):c.1369G>C (p.Glu457Gln) rs142064826
NM_181882.2(PRX):c.1391G>A (p.Arg464Gln) rs553211374
NM_181882.2(PRX):c.13A>G (p.Ser5Gly)
NM_181882.2(PRX):c.1460C>T (p.Pro487Leu)
NM_181882.2(PRX):c.1483_1560del78 (p.Glu495_Val520del) rs1555801137
NM_181882.2(PRX):c.1510C>T (p.Leu504Phe) rs192607896
NM_181882.2(PRX):c.1538C>T (p.Pro513Leu)
NM_181882.2(PRX):c.1574T>C (p.Val525Ala) rs149715830
NM_181882.2(PRX):c.1578_1601dup (p.Met536_Ala537insLysLeuProLysValProGluMet) rs764208864
NM_181882.2(PRX):c.15C>G (p.Ser5Arg)
NM_181882.2(PRX):c.1613T>C (p.Val538Ala) rs765791679
NM_181882.2(PRX):c.1658A>G (p.Glu553Gly) rs879254301
NM_181882.2(PRX):c.1714G>A (p.Val572Met) rs370979792
NM_181882.2(PRX):c.1718A>G (p.Gln573Arg)
NM_181882.2(PRX):c.176T>C (p.Leu59Pro)
NM_181882.2(PRX):c.1813C>T (p.Leu605Phe) rs1555801070
NM_181882.2(PRX):c.1828G>A (p.Glu610Lys) rs537664679
NM_181882.2(PRX):c.1837G>A (p.Val613Met) rs773222045
NM_181882.2(PRX):c.1900_1914delATGAAACTCCCTGAG (p.Met634_Glu638del)
NM_181882.2(PRX):c.1906C>T (p.Leu636Phe)
NM_181882.2(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.2(PRX):c.1979C>T (p.Pro660Leu) rs748737580
NM_181882.2(PRX):c.200G>A (p.Ser67Asn)
NM_181882.2(PRX):c.2033T>C (p.Val678Ala)
NM_181882.2(PRX):c.2036G>A (p.Arg679Gln) rs145856805
NM_181882.2(PRX):c.2077C>G (p.Leu693Val) rs758696889
NM_181882.2(PRX):c.2209G>A (p.Val737Met) rs1237761863
NM_181882.2(PRX):c.2215G>A (p.Asp739Asn) rs779294844
NM_181882.2(PRX):c.2243C>T (p.Pro748Leu)
NM_181882.2(PRX):c.2282C>T (p.Pro761Leu) rs530370432
NM_181882.2(PRX):c.2285A>G (p.Lys762Arg)
NM_181882.2(PRX):c.2293G>T (p.Asp765Tyr)
NM_181882.2(PRX):c.2311G>C (p.Ala771Pro)
NM_181882.2(PRX):c.2353A>G (p.Lys785Glu)
NM_181882.2(PRX):c.2440T>C (p.Ser814Pro)
NM_181882.2(PRX):c.2449C>T (p.Arg817Cys) rs147441856
NM_181882.2(PRX):c.2464G>A (p.Glu822Lys) rs772009400
NM_181882.2(PRX):c.2494G>C (p.Val832Leu) rs116139153
NM_181882.2(PRX):c.2534C>T (p.Ala845Val)
NM_181882.2(PRX):c.2548C>G (p.Pro850Ala) rs141686828
NM_181882.2(PRX):c.256T>C (p.Cys86Arg)
NM_181882.2(PRX):c.2573A>G (p.Glu858Gly)
NM_181882.2(PRX):c.2605G>A (p.Gly869Arg) rs1555800819
NM_181882.2(PRX):c.2620G>A (p.Ala874Thr) rs145790961
NM_181882.2(PRX):c.2641C>T (p.Arg881Trp) rs375201649
NM_181882.2(PRX):c.2651G>A (p.Gly884Asp) rs139005780
NM_181882.2(PRX):c.2677G>A (p.Glu893Lys) rs201270794
NM_181882.2(PRX):c.2690G>A (p.Arg897Gln) rs752531623
NM_181882.2(PRX):c.2728G>A (p.Ala910Thr) rs145203783
NM_181882.2(PRX):c.2731G>A (p.Val911Met)
NM_181882.2(PRX):c.2816C>G (p.Ser939Trp) rs761769929
NM_181882.2(PRX):c.2819G>A (p.Gly940Glu) rs1322545345
NM_181882.2(PRX):c.281_283delTCT (p.Phe94del)
NM_181882.2(PRX):c.2854G>C (p.Gly952Arg) rs1060502972
NM_181882.2(PRX):c.2876T>C (p.Val959Ala)
NM_181882.2(PRX):c.2909G>A (p.Arg970Gln)
NM_181882.2(PRX):c.296C>T (p.Thr99Ile)
NM_181882.2(PRX):c.2999C>T (p.Ala1000Val) rs765924621
NM_181882.2(PRX):c.3037G>A (p.Asp1013Asn)
NM_181882.2(PRX):c.3041T>C (p.Leu1014Pro)
NM_181882.2(PRX):c.3094G>A (p.Asp1032Asn) rs772431799
NM_181882.2(PRX):c.3186G>T (p.Lys1062Asn) rs139188673
NM_181882.2(PRX):c.3190C>T (p.Pro1064Ser) rs937051533
NM_181882.2(PRX):c.3209G>A (p.Arg1070Gln) rs146222815
NM_181882.2(PRX):c.3238C>T (p.Arg1080Cys)
NM_181882.2(PRX):c.3271G>A (p.Ala1091Thr) rs368459753
NM_181882.2(PRX):c.3352G>A (p.Val1118Ile)
NM_181882.2(PRX):c.3352G>T (p.Val1118Phe) rs143654708
NM_181882.2(PRX):c.3376C>A (p.Leu1126Met)
NM_181882.2(PRX):c.3400G>T (p.Val1134Leu) rs786204203
NM_181882.2(PRX):c.3416A>G (p.His1139Arg) rs1268527552
NM_181882.2(PRX):c.3419A>T (p.Asp1140Val) rs923473427
NM_181882.2(PRX):c.3496C>T (p.Pro1166Ser) rs147826200
NM_181882.2(PRX):c.3562C>A (p.Pro1188Thr)
NM_181882.2(PRX):c.3562C>T (p.Pro1188Ser) rs878855284
NM_181882.2(PRX):c.3580C>G (p.Leu1194Val) rs149732789
NM_181882.2(PRX):c.3583C>T (p.Pro1195Ser) rs1555800544
NM_181882.2(PRX):c.361C>T (p.Arg121Trp) rs750435566
NM_181882.2(PRX):c.3656C>T (p.Pro1219Leu) rs201393544
NM_181882.2(PRX):c.3775G>A (p.Glu1259Lys) rs751742049
NM_181882.2(PRX):c.3802G>A (p.Ala1268Thr) rs146061247
NM_181882.2(PRX):c.3835G>C (p.Val1279Leu) rs747247972
NM_181882.2(PRX):c.3845C>T (p.Ser1282Leu) rs753530396
NM_181882.2(PRX):c.3853G>A (p.Gly1285Arg) rs374370759
NM_181882.2(PRX):c.3863A>T (p.His1288Leu)
NM_181882.2(PRX):c.3919C>T (p.Arg1307Trp)
NM_181882.2(PRX):c.4058A>C (p.Glu1353Ala) rs1555800424
NM_181882.2(PRX):c.4108C>A (p.Arg1370Ser)
NM_181882.2(PRX):c.4112G>A (p.Arg1371Gln) rs377009047
NM_181882.2(PRX):c.4115G>T (p.Gly1372Val) rs751906783
NM_181882.2(PRX):c.4117C>T (p.Arg1373Trp) rs766729202
NM_181882.2(PRX):c.4121T>G (p.Val1374Gly) rs773512610
NM_181882.2(PRX):c.4130G>A (p.Arg1377His)
NM_181882.2(PRX):c.4138C>T (p.Arg1380Cys) rs771840476
NM_181882.2(PRX):c.4171C>G (p.Arg1391Gly) rs369072136
NM_181882.2(PRX):c.4171C>T (p.Arg1391Trp) rs369072136
NM_181882.2(PRX):c.4196C>T (p.Pro1399Leu) rs764183288
NM_181882.2(PRX):c.4207G>A (p.Val1403Ile) rs139051512
NM_181882.2(PRX):c.4219T>G (p.Ser1407Ala) rs146468976
NM_181882.2(PRX):c.4231C>T (p.Arg1411Cys)
NM_181882.2(PRX):c.4244_4246dup (p.Val1415_Ser1416insLeu) rs771234852
NM_181882.2(PRX):c.4270G>A (p.Gly1424Arg) rs754032938
NM_181882.2(PRX):c.4301G>A (p.Arg1434Gln) rs759435622
NM_181882.2(PRX):c.4304T>C (p.Val1435Ala) rs878855285
NM_181882.2(PRX):c.4307G>A (p.Arg1436Gln) rs368827070
NM_181882.2(PRX):c.4333A>G (p.Thr1445Ala) rs368067072
NM_181882.2(PRX):c.4366G>C (p.Ala1456Pro) rs149093940
NM_181882.2(PRX):c.457C>T (p.Pro153Ser) rs760295364
NM_181882.2(PRX):c.461T>C (p.Val154Ala) rs1555801518
NM_181882.2(PRX):c.478_492delTTTCCCAAGTTCTCC (p.Phe160_Ser164del) rs1555801508
NM_181882.2(PRX):c.485A>C (p.Lys162Thr) rs879254072
NM_181882.2(PRX):c.502C>T (p.Arg168Trp) rs374193988
NM_181882.2(PRX):c.503G>A (p.Arg168Gln) rs763833871
NM_181882.2(PRX):c.509T>C (p.Leu170Pro) rs1387520113
NM_181882.2(PRX):c.559C>T (p.Arg187Cys)
NM_181882.2(PRX):c.615_616delCCinsTT (p.Arg206Trp)
NM_181882.2(PRX):c.62T>C (p.Val21Ala) rs1167676481
NM_181882.2(PRX):c.631G>T (p.Ala211Ser) rs112973322
NM_181882.2(PRX):c.634C>A (p.Pro212Thr) rs771156102
NM_181882.2(PRX):c.682C>T (p.Arg228Cys) rs751238438
NM_181882.2(PRX):c.718C>T (p.Arg240Trp) rs199863083
NM_181882.2(PRX):c.740G>A (p.Gly247Asp)
NM_181882.2(PRX):c.74C>A (p.Ala25Glu) rs1555802182
NM_181882.2(PRX):c.823C>A (p.Leu275Ile) rs200033507
NM_181882.2(PRX):c.833C>T (p.Pro278Leu) rs886054440
NM_181882.2(PRX):c.839C>T (p.Pro280Leu) rs557355077
NM_181882.2(PRX):c.848T>G (p.Val283Gly) rs776556523
NM_181882.2(PRX):c.922A>G (p.Thr308Ala) rs753330520
NM_181882.2(PRX):c.946G>C (p.Glu316Gln) rs1555801306
NM_181882.2(PRX):c.994A>G (p.Thr332Ala) rs143710873

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.