ClinVar Miner

List of variants reported as likely benign for spinal muscular atrophy

Included ClinVar conditions (89):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4532
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HGVS dbSNP gnomAD frequency
NM_016955.4(SEPSECS):c.*455C>T rs73252520 0.08857
NM_016955.4(SEPSECS):c.*2694A>G rs956925 0.07936
NM_020631.6(PLEKHG5):c.1393-19C>T rs771920742 0.03659
NM_020631.6(PLEKHG5):c.1393-16C>G rs747761762 0.02500
NC_000012.12:g.109833413C>T rs56079803 0.02373
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_016955.4(SEPSECS):c.*638G>C rs10004441 0.01839
NM_016955.4(SEPSECS):c.*2209A>G rs9998044 0.01837
NC_000023.11:g.47215132C>T rs182093778 0.01657
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_016955.4(SEPSECS):c.*1041T>C rs114420733 0.01027
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp) rs11559048 0.00864
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00522
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_001003800.2(BICD2):c.2258+15G>C rs140501870 0.00450
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061 0.00398
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780 0.00392
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) rs150574055 0.00347
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982 0.00334
NM_016042.4(EXOSC3):c.*881A>G rs143319153 0.00332
NM_004738.5(VAPB):c.*3118C>T rs56310716 0.00306
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_004738.5(VAPB):c.*467G>A rs141496875 0.00301
NM_016955.4(SEPSECS):c.*3402A>G rs149506792 0.00300
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425 0.00247
NM_004738.5(VAPB):c.*375C>G rs540854828 0.00247
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399 0.00247
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) rs62640002 0.00231
NM_002180.3(IGHMBP2):c.362C>T (p.Ser121Phe) rs2228205 0.00220
NM_004082.5(DCTN1):c.2761-18C>T rs549475401 0.00209
NM_016042.4(EXOSC3):c.*64C>T rs142727320 0.00209
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met) rs141032388 0.00209
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg) rs121909192 0.00208
NM_001376.5(DYNC1H1):c.10414-13G>A rs17541421 0.00190
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839 0.00183
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053 0.00181
NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met) rs143763184 0.00179
NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val) rs62640004 0.00177
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met) rs112530241 0.00171
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050 0.00170
NM_002180.3(IGHMBP2):c.*175T>C rs189725711 0.00166
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_020631.6(PLEKHG5):c.2162_2163insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu721fs) rs1456598112 0.00164
NM_004738.5(VAPB):c.*2320T>A rs181028077 0.00163
NM_004738.5(VAPB):c.*4072C>T rs190652187 0.00163
NM_003334.4(UBA1):c.2004-13C>T rs201794720 0.00162
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr) rs2228208 0.00157
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00156
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_004738.5(VAPB):c.*3566A>T rs114038495 0.00142
NM_020631.6(PLEKHG5):c.1019C>T (p.Ala340Val) rs72861528 0.00138
NM_020631.6(PLEKHG5):c.509C>T (p.Pro170Leu) rs59117380 0.00137
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316 0.00136
NM_205836.3(FBXO38):c.2341C>T (p.Pro781Ser) rs116266000 0.00134
NM_004738.5(VAPB):c.*5790G>A rs192046748 0.00126
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly) rs114878910 0.00125
NM_004738.5(VAPB):c.*3274C>T rs553170533 0.00122
NM_004738.5(VAPB):c.*6578T>G rs115932469 0.00121
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=) rs116719245 0.00120
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe) rs143876748 0.00118
NM_213720.3(CHCHD10):c.229A>G (p.Ser77Gly) rs370872556 0.00115
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670 0.00108
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=) rs147918962 0.00105
NM_205836.3(FBXO38):c.3019C>A (p.Gln1007Lys) rs112383068 0.00099
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala) rs61736727 0.00098
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_021815.5(SLC5A7):c.1237G>A (p.Val413Ile) rs138945146 0.00096
NM_004082.5(DCTN1):c.280-3C>T rs114364621 0.00094
NM_004738.5(VAPB):c.*3822C>G rs150825395 0.00093
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772 0.00091
NM_020631.6(PLEKHG5):c.2677G>A (p.Gly893Arg) rs200407689 0.00091
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_205836.3(FBXO38):c.3547G>A (p.Val1183Ile) rs143682696 0.00091
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_001122955.4(BSCL2):c.88-674G>T rs549450153 0.00088
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_004738.5(VAPB):c.*726A>G rs560832981 0.00086
NM_004738.5(VAPB):c.*3725T>C rs574293455 0.00083
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934 0.00078
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile) rs138169215 0.00077
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys) rs148514935 0.00072
NM_004082.5(DCTN1):c.1504C>A (p.Arg502Ser) rs145958900 0.00070
NM_016042.4(EXOSC3):c.588T>C (p.Asp196=) rs147568068 0.00068
NM_006736.6(DNAJB2):c.717C>A (p.Thr239=) rs146703240 0.00067
NM_001003800.2(BICD2):c.1179T>A (p.Asn393Lys) rs144427583 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551 0.00065
NM_004738.5(VAPB):c.-137C>T rs542349554 0.00062
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys) rs201493373 0.00061
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 0.00061
NM_016042.4(EXOSC3):c.219C>A (p.Arg73=) rs149583035 0.00061
NM_004738.5(VAPB):c.*1347A>G rs192710529 0.00059
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu) rs146459055 0.00059
NM_006308.3(HSPB3):c.21G>T (p.Arg7Ser) rs139382018 0.00058
NM_006736.6(DNAJB2):c.787C>T (p.Leu263=) rs140805390 0.00058
NM_020631.6(PLEKHG5):c.-113C>A rs190848227 0.00057
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029 0.00056
NM_020631.6(PLEKHG5):c.3011+9C>T rs144809602 0.00054
NM_001003800.2(BICD2):c.979C>T (p.Pro327Ser) rs147814238 0.00053
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_004738.5(VAPB):c.*3020A>G rs570716807 0.00053
NM_004082.5(DCTN1):c.3643C>G (p.Pro1215Ala) rs184147813 0.00051
NM_020631.6(PLEKHG5):c.1023G>A (p.Val341=) rs199903533 0.00050
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510 0.00049
NM_205836.3(FBXO38):c.2146A>G (p.Ser716Gly) rs150893158 0.00048
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=) rs138085418 0.00047
NM_004082.5(DCTN1):c.279+8C>T rs376401397 0.00046
NM_020631.6(PLEKHG5):c.1801-14del rs762416489 0.00046
NM_021815.5(SLC5A7):c.1113+9A>G rs192964655 0.00046
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275 0.00045
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) rs201692151 0.00044
NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp) rs144681826 0.00044
NM_004738.5(VAPB):c.59-4A>G rs193136039 0.00044
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile) rs142117467 0.00044
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe) rs140676897 0.00043
NM_016042.4(EXOSC3):c.123C>T (p.Asp41=) rs147510873 0.00043
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588 0.00041
NM_003334.4(UBA1):c.873C>T (p.Ile291=) rs143062483 0.00041
NM_020631.6(PLEKHG5):c.33T>C (p.Leu11=) rs144859183 0.00041
NM_001003800.2(BICD2):c.1893C>T (p.Ile631=) rs141414055 0.00040
NM_004082.5(DCTN1):c.2334A>C (p.Thr778=) rs144256653 0.00039
NM_205836.3(FBXO38):c.2889G>C (p.Lys963Asn) rs371555180 0.00039
NM_004082.5(DCTN1):c.3610-14C>T rs757854575 0.00038
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu) rs148615702 0.00038
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys) rs147135294 0.00038
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro) rs145677716 0.00038
NM_177924.5(ASAH1):c.1041+19C>A rs17126194 0.00037
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907 0.00036
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_020631.6(PLEKHG5):c.2424G>A (p.Val808=) rs151184761 0.00030
NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831 0.00029
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) rs147409148 0.00029
NM_003384.3(VRK1):c.183A>C (p.Ser61=) rs150196318 0.00029
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_004082.5(DCTN1):c.597G>A (p.Pro199=) rs143607419 0.00029
NM_020631.6(PLEKHG5):c.1530C>T (p.Ala510=) rs61734080 0.00029
NM_213720.3(CHCHD10):c.113C>T (p.Pro38Leu) rs564997204 0.00029
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg) rs146266992 0.00028
NM_004082.5(DCTN1):c.558G>A (p.Pro186=) rs201078804 0.00028
NM_213720.3(CHCHD10):c.403T>C (p.Tyr135His) rs145649831 0.00028
NM_004738.5(VAPB):c.*5005T>A rs146687585 0.00027
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490 0.00026
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170 0.00025
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186 0.00025
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp) rs138327042 0.00025
NM_003334.4(UBA1):c.2299G>A (p.Ala767Thr) rs187589555 0.00025
NM_004738.5(VAPB):c.*3805G>C rs561048421 0.00025
NM_205836.3(FBXO38):c.3393T>C (p.Thr1131=) rs148901341 0.00025
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942 0.00024
NM_001003800.2(BICD2):c.2259-19A>G rs199833926 0.00024
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) rs138532996 0.00024
NM_004082.5(DCTN1):c.3490A>G (p.Thr1164Ala) rs72466493 0.00024
NM_020631.6(PLEKHG5):c.2070T>C (p.Arg690=) rs141100808 0.00024
NM_021815.5(SLC5A7):c.1299T>C (p.Tyr433=) rs144772225 0.00024
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe) rs147314661 0.00023
NM_004738.5(VAPB):c.*2592G>A rs143902869 0.00023
NM_004738.5(VAPB):c.*3764C>T rs376626781 0.00023
NM_021815.5(SLC5A7):c.293-18C>G rs200631097 0.00023
NM_205836.3(FBXO38):c.456A>G (p.Val152=) rs146162318 0.00023
NM_001003800.2(BICD2):c.1069C>T (p.Arg357Trp) rs202119238 0.00022
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_001003800.2(BICD2):c.1540G>A (p.Gly514Ser) rs200091763 0.00021
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=) rs370850999 0.00021
NM_004738.5(VAPB):c.492C>T (p.Thr164=) rs139884809 0.00021
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324 0.00021
NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021 0.00021
NM_205836.3(FBXO38):c.2200G>A (p.Gly734Ser) rs140445029 0.00021
NM_004082.5(DCTN1):c.2605C>T (p.Leu869=) rs148511573 0.00020
NM_004082.5(DCTN1):c.837G>A (p.Ala279=) rs72466489 0.00020
NM_004738.5(VAPB):c.573+18G>A rs201884956 0.00020
NM_006308.3(HSPB3):c.321C>T (p.His107=) rs367560285 0.00020
NM_205836.3(FBXO38):c.1958A>G (p.Asn653Ser) rs140204686 0.00020
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331 0.00019
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213 0.00019
NM_002180.3(IGHMBP2):c.1914G>A (p.Thr638=) rs139065967 0.00019
NM_003334.4(UBA1):c.2733G>A (p.Lys911=) rs149284493 0.00019
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys) rs140066692 0.00019
NM_004082.5(DCTN1):c.3029+19G>A rs201665169 0.00018
NM_020631.6(PLEKHG5):c.639G>A (p.Ala213=) rs560366406 0.00018
NM_002180.3(IGHMBP2):c.952A>G (p.Asn318Asp) rs768231851 0.00017
NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509 0.00017
NM_205836.3(FBXO38):c.2903C>G (p.Pro968Arg) rs141168806 0.00017
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp) rs377714939 0.00016
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005 0.00016
NM_003334.4(UBA1):c.346-10A>C rs782089237 0.00016
NM_003384.3(VRK1):c.216+8A>G rs369680885 0.00016
NM_003384.3(VRK1):c.810T>C (p.Tyr270=) rs943810223 0.00016
NM_003384.3(VRK1):c.906C>T (p.Tyr302=) rs528346065 0.00016
NM_004082.5(DCTN1):c.570G>A (p.Pro190=) rs528908728 0.00016
NM_004738.5(VAPB):c.574-4G>A rs201798741 0.00016
NM_020631.6(PLEKHG5):c.1302C>T (p.Pro434=) rs755428930 0.00016
NM_020631.6(PLEKHG5):c.783C>T (p.Ser261=) rs61738905 0.00016
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=) rs142749412 0.00016
NM_021815.5(SLC5A7):c.486C>T (p.His162=) rs369362436 0.00016
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_213720.3(CHCHD10):c.262-5C>T rs750056280 0.00016
NM_000052.7(ATP7A):c.3479C>T (p.Ser1160Leu) rs149576827 0.00015
NM_020631.6(PLEKHG5):c.984+11G>A rs369478125 0.00015
NM_001003800.2(BICD2):c.1250A>G (p.Asp417Gly) rs55658812 0.00014
NM_001003800.2(BICD2):c.14C>T (p.Ser5Leu) rs769376640 0.00014
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=) rs745534850 0.00014
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153 0.00014
NM_002180.3(IGHMBP2):c.2612-16C>T rs200337900 0.00014
NM_004082.5(DCTN1):c.3003C>T (p.Thr1001=) rs376031920 0.00014
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=) rs77226826 0.00014
NM_016955.4(SEPSECS):c.84T>C (p.His28=) rs532571185 0.00014
NM_001003800.2(BICD2):c.1127C>T (p.Thr376Met) rs200325192 0.00013
NM_002180.3(IGHMBP2):c.*860G>A rs149898985 0.00013
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu) rs374632016 0.00013
NM_002180.3(IGHMBP2):c.2703G>A (p.Lys901=) rs1457468543 0.00013
NM_004082.5(DCTN1):c.*49G>A rs368049781 0.00013
NM_004082.5(DCTN1):c.1573G>A (p.Ala525Thr) rs376564889 0.00013
NM_004082.5(DCTN1):c.2990G>A (p.Arg997Gln) rs200580530 0.00013
NM_004082.5(DCTN1):c.3128G>A (p.Arg1043His) rs776489779 0.00013
NM_004082.5(DCTN1):c.3345+13C>T rs376707439 0.00013
NM_004738.5(VAPB):c.*5851C>A rs772661395 0.00013
NM_005866.4(SIGMAR1):c.294C>T (p.Ala98=) rs566645946 0.00013
NM_020631.6(PLEKHG5):c.1681-8G>C rs139041955 0.00013
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00012
NM_001003800.2(BICD2):c.1823C>T (p.Ser608Leu) rs150861652 0.00012
NM_003334.4(UBA1):c.753A>G (p.Ser251=) rs141505579 0.00012
NM_003384.3(VRK1):c.759A>G (p.Gln253=) rs150534939 0.00012
NM_004082.5(DCTN1):c.1480G>A (p.Ala494Thr) rs113980038 0.00012
NM_004082.5(DCTN1):c.3501C>T (p.His1167=) rs569997015 0.00012
NM_020631.6(PLEKHG5):c.2610G>A (p.Pro870=) rs373880458 0.00012
NM_020631.6(PLEKHG5):c.414C>T (p.Phe138=) rs375075005 0.00012
NM_205836.3(FBXO38):c.2736C>T (p.Ile912=) rs142105545 0.00012
NM_213720.3(CHCHD10):c.378C>T (p.Ser126=) rs199579266 0.00012
NM_000052.7(ATP7A):c.3659-12C>T rs1012193744 0.00011
NM_001003800.2(BICD2):c.1438G>A (p.Ala480Thr) rs140188204 0.00011
NM_001003800.2(BICD2):c.1620C>T (p.His540=) rs375331979 0.00011
NM_001003800.2(BICD2):c.1692C>T (p.Ala564=) rs199944412 0.00011
NM_001003800.2(BICD2):c.1716C>A (p.Arg572=) rs375060340 0.00011
NM_001003800.2(BICD2):c.1802G>A (p.Gly601Glu) rs573487238 0.00011
NM_001003800.2(BICD2):c.484C>T (p.Arg162Cys) rs766087023 0.00011
NM_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00011
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231 0.00011
NM_002180.3(IGHMBP2):c.1060+10C>T rs200170825 0.00011
NM_002180.3(IGHMBP2):c.1143C>T (p.Leu381=) rs145314949 0.00011
NM_002180.3(IGHMBP2):c.2612-14C>T rs200940488 0.00011
NM_004082.5(DCTN1):c.2588T>C (p.Val863Ala) rs150798076 0.00011
NM_004082.5(DCTN1):c.2967G>A (p.Glu989=) rs372554051 0.00011
NM_004738.5(VAPB):c.174C>T (p.Ser58=) rs139149560 0.00011
NM_020631.6(PLEKHG5):c.1497G>A (p.Leu499=) rs749662321 0.00011
NM_020631.6(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894 0.00011
NM_021815.5(SLC5A7):c.178+18C>T rs372695865 0.00011
NM_021815.5(SLC5A7):c.619T>C (p.Leu207=) rs139476914 0.00011
NM_021815.5(SLC5A7):c.742-6G>A rs371989232 0.00011
NM_021815.5(SLC5A7):c.786C>G (p.Leu262=) rs190152555 0.00011
NM_205836.3(FBXO38):c.1491C>T (p.Asp497=) rs146067715 0.00011
NM_213720.3(CHCHD10):c.410-12C>T rs750841860 0.00011
NM_213720.3(CHCHD10):c.410-17T>G rs754306778 0.00011
NM_213720.3(CHCHD10):c.410-19G>C rs754492535 0.00011
NM_001003800.2(BICD2):c.2514C>T (p.Thr838=) rs144390290 0.00010
NM_001003800.2(BICD2):c.58G>A (p.Glu20Lys) rs780000539 0.00010
NM_001003800.2(BICD2):c.753C>T (p.Arg251=) rs533852054 0.00010
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00010
NM_002047.4(GARS1):c.1809+14T>C rs367739730 0.00010
NM_002047.4(GARS1):c.765G>A (p.Ala255=) rs201447520 0.00010
NM_002180.3(IGHMBP2):c.2856C>T (p.Ala952=) rs759627672 0.00010
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) rs145631247 0.00010
NM_002180.3(IGHMBP2):c.2976G>A (p.Gly992=) rs755792559 0.00010
NM_003384.3(VRK1):c.161-14A>G rs375176918 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_004082.5(DCTN1):c.3212-10G>A rs201516838 0.00010
NM_004082.5(DCTN1):c.3543G>A (p.Pro1181=) rs745853966 0.00010
NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile) rs368273709 0.00010
NM_020631.6(PLEKHG5):c.1182C>T (p.His394=) rs754889755 0.00010
NM_020631.6(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137 0.00010
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500 0.00009
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile) rs146392305 0.00009
NM_001003800.2(BICD2):c.1236C>T (p.Asn412=) rs761796557 0.00009
NM_001003800.2(BICD2):c.1401C>T (p.His467=) rs144442734 0.00009
NM_001003800.2(BICD2):c.2172G>C (p.Glu724Asp) rs201335175 0.00009
NM_001003800.2(BICD2):c.240+10G>T rs976041248 0.00009
NM_001003800.2(BICD2):c.496G>A (p.Asp166Asn) rs376208721 0.00009
NM_001003800.2(BICD2):c.713G>A (p.Arg238Gln) rs201389004 0.00009
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194 0.00009
NM_002180.3(IGHMBP2):c.*417C>A rs117542830 0.00009
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354 0.00009
NM_002180.3(IGHMBP2):c.2612-13G>A rs369494910 0.00009
NM_002180.3(IGHMBP2):c.2715C>T (p.Gly905=) rs779293148 0.00009
NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln) rs199863781 0.00009
NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469 0.00009
NM_003384.3(VRK1):c.216+19A>G rs200465413 0.00009
NM_004082.5(DCTN1):c.1266C>T (p.Thr422=) rs368742342 0.00009
NM_004082.5(DCTN1):c.1447C>T (p.Leu483=) rs145369076 0.00009
NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile) rs200834352 0.00009
NM_004738.5(VAPB):c.486T>A (p.Asp162Glu) rs780851496 0.00009
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg) rs146900850 0.00009
NM_020631.6(PLEKHG5):c.1393-10C>A rs768925221 0.00009
NM_020631.6(PLEKHG5):c.2967C>T (p.Tyr989=) rs773618556 0.00009
NM_021815.5(SLC5A7):c.1197G>A (p.Thr399=) rs141187628 0.00009
NM_021815.5(SLC5A7):c.759A>G (p.Pro253=) rs372145153 0.00009
NM_213720.3(CHCHD10):c.42-9C>A rs1392906115 0.00009
NM_000052.7(ATP7A):c.1947-3A>G rs782237008 0.00008
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352 0.00008
NM_001003800.2(BICD2):c.2245A>G (p.Met749Val) rs145923602 0.00008
NM_001003800.2(BICD2):c.957G>A (p.Thr319=) rs201926954 0.00008
NM_001122955.4(BSCL2):c.88-19C>T rs760935362 0.00008
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_002180.3(IGHMBP2):c.1236-10C>T rs778515935 0.00008
NM_002180.3(IGHMBP2):c.1482C>T (p.Ala494=) rs773180915 0.00008
NM_002180.3(IGHMBP2):c.1633-14G>A rs368126775 0.00008
NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133 0.00008
NM_002180.3(IGHMBP2):c.2874C>T (p.Asn958=) rs779753312 0.00008
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598 0.00008
NM_003334.4(UBA1):c.1156C>T (p.Leu386=) rs782722368 0.00008
NM_003334.4(UBA1):c.1665C>T (p.Asp555=) rs376109672 0.00008
NM_003334.4(UBA1):c.2813A>G (p.Glu938Gly) rs782120956 0.00008
NM_004082.5(DCTN1):c.1422G>A (p.Leu474=) rs149184538 0.00008
NM_004082.5(DCTN1):c.3197-8G>A rs371393698 0.00008
NM_004082.5(DCTN1):c.358+18A>T rs771340635 0.00008
NM_006736.6(DNAJB2):c.561C>T (p.Asn187=) rs143245353 0.00008
NM_020631.6(PLEKHG5):c.1393-5C>T rs780578894 0.00008
NM_020631.6(PLEKHG5):c.186G>A (p.Lys62=) rs372405586 0.00008
NM_020631.6(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443 0.00008
NM_021815.5(SLC5A7):c.636C>T (p.Val212=) rs200804007 0.00008
NM_205836.3(FBXO38):c.3025-13A>T rs201806797 0.00008
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile) rs782290331 0.00007
NM_001003800.2(BICD2):c.64C>T (p.Leu22=) rs758212511 0.00007
NM_002180.3(IGHMBP2):c.2671G>A (p.Val891Ile) rs199614709 0.00007
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val) rs754780894 0.00007
NM_004082.5(DCTN1):c.3228G>A (p.Gln1076=) rs202237523 0.00007
NM_004082.5(DCTN1):c.394-16C>G rs371506967 0.00007
NM_004738.5(VAPB):c.496G>A (p.Val166Ile) rs538630783 0.00007
NM_006736.6(DNAJB2):c.66-4G>A rs753872606 0.00007
NM_020631.6(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744 0.00007
NM_020631.6(PLEKHG5):c.2598G>A (p.Leu866=) rs368328495 0.00007
NM_020631.6(PLEKHG5):c.439+12C>G rs778853521 0.00007
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919 0.00007
NM_021815.5(SLC5A7):c.471C>T (p.Ile157=) rs904669194 0.00007
NM_021815.5(SLC5A7):c.54T>C (p.Ile18=) rs370177227 0.00007
NM_021815.5(SLC5A7):c.597+14C>A rs370808911 0.00007
NM_205836.3(FBXO38):c.1398A>G (p.Glu466=) rs762335815 0.00007
NM_205836.3(FBXO38):c.3120G>C (p.Arg1040=) rs770089729 0.00007
NM_213720.3(CHCHD10):c.171G>A (p.Val57=) rs780298646 0.00007
NM_213720.3(CHCHD10):c.410-14C>T rs375779737 0.00007
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=) rs149841982 0.00006
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963 0.00006
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433 0.00006
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln) rs782166627 0.00006
NM_000052.7(ATP7A):c.748A>G (p.Ile250Val) rs1189996419 0.00006
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser) rs368147403 0.00006
NM_001003800.2(BICD2):c.1168C>A (p.Leu390Ile) rs192669216 0.00006
NM_001003800.2(BICD2):c.1742G>A (p.Arg581His) rs201771783 0.00006
NM_001003800.2(BICD2):c.1749C>T (p.Pro583=) rs777813587 0.00006
NM_001003800.2(BICD2):c.2106+9C>G rs750324371 0.00006
NM_001003800.2(BICD2):c.2217C>T (p.Asp739=) rs142140690 0.00006
NM_001003800.2(BICD2):c.2258+18G>C rs376177099 0.00006
NM_001003800.2(BICD2):c.2429G>A (p.Arg810His) rs556905704 0.00006
NM_001003800.2(BICD2):c.378G>A (p.Lys126=) rs374643299 0.00006
NM_001003800.2(BICD2):c.42G>C (p.Val14=) rs564099533 0.00006
NM_001003800.2(BICD2):c.602A>G (p.Asn201Ser) rs201274230 0.00006
NM_001003800.2(BICD2):c.728C>T (p.Ala243Val) rs748997644 0.00006
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) rs538571144 0.00006
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337 0.00006
NM_002180.3(IGHMBP2):c.2090C>T (p.Pro697Leu) rs77807333 0.00006
NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=) rs199879444 0.00006
NM_002180.3(IGHMBP2):c.2286C>T (p.Ala762=) rs149684358 0.00006
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr) rs138607722 0.00006
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407 0.00006
NM_003334.4(UBA1):c.117+15C>T rs782784799 0.00006
NM_003334.4(UBA1):c.1356C>T (p.Asp452=) rs375669736 0.00006
NM_003384.3(VRK1):c.1005T>C (p.Asp335=) rs948151259 0.00006
NM_003384.3(VRK1):c.286+20T>C rs756827476 0.00006
NM_003384.3(VRK1):c.576+8T>C rs368495945 0.00006
NM_004082.5(DCTN1):c.1393-6T>C rs72466491 0.00006
NM_004082.5(DCTN1):c.1470C>T (p.Asp490=) rs199751168 0.00006
NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val) rs758387062 0.00006
NM_004082.5(DCTN1):c.3132G>C (p.Thr1044=) rs375157202 0.00006
NM_004082.5(DCTN1):c.336T>G (p.Ser112=) rs371005095 0.00006
NM_004082.5(DCTN1):c.3699+12C>T rs372930172 0.00006
NM_004082.5(DCTN1):c.3776G>A (p.Arg1259Gln) rs573184955 0.00006
NM_004082.5(DCTN1):c.394-10C>A rs541163314 0.00006
NM_004082.5(DCTN1):c.420G>A (p.Pro140=) rs375040197 0.00006
NM_004738.5(VAPB):c.*4265G>A rs780267648 0.00006
NM_004738.5(VAPB):c.651A>G (p.Glu217=) rs767437818 0.00006
NM_006736.6(DNAJB2):c.352+8G>C rs989258467 0.00006
NM_020631.6(PLEKHG5):c.1614G>T (p.Leu538=) rs754624083 0.00006
NM_020631.6(PLEKHG5):c.1680+19G>A rs367829100 0.00006
NM_020631.6(PLEKHG5):c.2421G>A (p.Pro807=) rs767407997 0.00006
NM_020631.6(PLEKHG5):c.768C>T (p.Ser256=) rs780935962 0.00006
NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=) rs370572859 0.00006
NM_020631.6(PLEKHG5):c.984+13C>G rs202154066 0.00006
NM_020631.6(PLEKHG5):c.984+7G>A rs111681677 0.00006
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=) rs142656819 0.00006
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_021625.5(TRPV4):c.963C>A (p.Gly321=) rs148534854 0.00006
NM_021815.5(SLC5A7):c.1434A>G (p.Pro478=) rs761926640 0.00006
NM_021815.5(SLC5A7):c.1467A>G (p.Leu489=) rs181802200 0.00006
NM_205836.3(FBXO38):c.1168A>G (p.Ile390Val) rs199972552 0.00006
NM_205836.3(FBXO38):c.1619-7G>A rs374684212 0.00006
NM_205836.3(FBXO38):c.2126C>G (p.Ala709Gly) rs776182581 0.00006
NM_205836.3(FBXO38):c.2661C>G (p.Ala887=) rs142852014 0.00006
NM_205836.3(FBXO38):c.2754+16T>G rs972756295 0.00006
NM_205836.3(FBXO38):c.3078C>T (p.His1026=) rs370895783 0.00006
NM_205836.3(FBXO38):c.3315C>T (p.Phe1105=) rs552366782 0.00006
NM_205836.3(FBXO38):c.731-5T>C rs528175277 0.00006
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=) rs781950759 0.00005
NM_000052.7(ATP7A):c.1309G>A (p.Asp437Asn) rs781927920 0.00005
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met) rs782076879 0.00005
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=) rs207478437 0.00005
NM_000052.7(ATP7A):c.1772G>A (p.Gly591Glu) rs782566688 0.00005
NM_000052.7(ATP7A):c.3117G>T (p.Lys1039Asn) rs1057520234 0.00005
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn) rs782475540 0.00005
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys) rs781970260 0.00005
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493 0.00005
NM_000052.7(ATP7A):c.673A>G (p.Met225Val) rs782619990 0.00005
NM_001003800.2(BICD2):c.1063-9C>T rs767362616 0.00005
NM_001003800.2(BICD2):c.1369C>T (p.Arg457Cys) rs376220375 0.00005
NM_001003800.2(BICD2):c.1932C>T (p.Ala644=) rs201930889 0.00005
NM_001003800.2(BICD2):c.2076G>A (p.Thr692=) rs747808072 0.00005
NM_001003800.2(BICD2):c.2106+17dup rs751046774 0.00005
NM_001003800.2(BICD2):c.2423G>A (p.Arg808His) rs372322527 0.00005
NM_002180.3(IGHMBP2):c.1236-5C>T rs191443556 0.00005
NM_002180.3(IGHMBP2):c.1794C>T (p.Asn598=) rs1337346956 0.00005
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=) rs373001247 0.00005
NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=) rs374950193 0.00005
NM_002180.3(IGHMBP2):c.277G>A (p.Asp93Asn) rs200897747 0.00005
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388 0.00005
NM_003334.4(UBA1):c.1233+8C>T rs1178927745 0.00005
NM_004082.5(DCTN1):c.159C>T (p.Ala53=) rs759530214 0.00005
NM_004082.5(DCTN1):c.2318G>T (p.Gly773Val) rs754657052 0.00005
NM_004082.5(DCTN1):c.2559C>T (p.Ala853=) rs770872113 0.00005
NM_004082.5(DCTN1):c.2628+18G>A rs770747593 0.00005
NM_004082.5(DCTN1):c.3158C>T (p.Pro1053Leu) rs752079233 0.00005
NM_004082.5(DCTN1):c.393+7G>A rs778904039 0.00005
NM_004082.5(DCTN1):c.450C>T (p.Pro150=) rs762745227 0.00005
NM_004082.5(DCTN1):c.60G>A (p.Ala20=) rs150204862 0.00005
NM_006736.6(DNAJB2):c.675G>A (p.Pro225=) rs61758420 0.00005
NM_006736.6(DNAJB2):c.705G>A (p.Gln235=) rs752273176 0.00005
NM_020631.6(PLEKHG5):c.1455C>T (p.His485=) rs368630744 0.00005
NM_020631.6(PLEKHG5):c.1617G>T (p.Ala539=) rs545959722 0.00005
NM_020631.6(PLEKHG5):c.2361C>T (p.Thr787=) rs201054338 0.00005
NM_020631.6(PLEKHG5):c.834C>T (p.His278=) rs368463952 0.00005
NM_021815.5(SLC5A7):c.178+16G>C rs756377938 0.00005
NM_021815.5(SLC5A7):c.351G>A (p.Pro117=) rs368109143 0.00005
NM_205836.3(FBXO38):c.1110G>A (p.Ala370=) rs768439318 0.00005
NM_205836.3(FBXO38):c.1410T>A (p.Gly470=) rs762232515 0.00005
NM_205836.3(FBXO38):c.2175C>T (p.Pro725=) rs139469864 0.00005
NM_213720.3(CHCHD10):c.132C>T (p.Leu44=) rs776304054 0.00005
NM_213720.3(CHCHD10):c.273C>T (p.Pro91=) rs773772416 0.00005
NM_000052.7(ATP7A):c.1137T>C (p.Thr379=) rs376042813 0.00004
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911 0.00004
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=) rs139000596 0.00004
NM_000052.7(ATP7A):c.1377G>A (p.Ser459=) rs377355446 0.00004
NM_000052.7(ATP7A):c.2172+7G>T rs782433802 0.00004
NM_000052.7(ATP7A):c.2619C>T (p.Leu873=) rs1307515001 0.00004
NM_000052.7(ATP7A):c.3558G>A (p.Glu1186=) rs1325311308 0.00004
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705 0.00004
NM_000052.7(ATP7A):c.4005+19C>A rs1231604254 0.00004
NM_000052.7(ATP7A):c.4305C>T (p.Ser1435=) rs146052682 0.00004
NM_000052.7(ATP7A):c.729G>A (p.Lys243=) rs782326318 0.00004
NM_001003800.2(BICD2):c.1224A>G (p.Thr408=) rs201939232 0.00004
NM_001003800.2(BICD2):c.1259A>C (p.Glu420Ala) rs771432118 0.00004
NM_001003800.2(BICD2):c.1388G>A (p.Arg463His) rs745500617 0.00004
NM_001003800.2(BICD2):c.1446G>A (p.Thr482=) rs370920372 0.00004
NM_001003800.2(BICD2):c.1491G>A (p.Glu497=) rs761926262 0.00004
NM_001003800.2(BICD2):c.150G>A (p.Val50=) rs186133837 0.00004
NM_001003800.2(BICD2):c.1696C>T (p.Arg566Cys) rs748022488 0.00004
NM_001003800.2(BICD2):c.1697G>A (p.Arg566His) rs550312355 0.00004
NM_001003800.2(BICD2):c.1715G>A (p.Arg572His) rs777902159 0.00004
NM_001003800.2(BICD2):c.1741C>T (p.Arg581Cys) rs771001231 0.00004
NM_001003800.2(BICD2):c.1962G>A (p.Gln654=) rs746391061 0.00004
NM_001003800.2(BICD2):c.2107-16C>T rs368924457 0.00004
NM_001003800.2(BICD2):c.2319C>T (p.Asp773=) rs370848787 0.00004
NM_001003800.2(BICD2):c.2331G>A (p.Thr777=) rs779170531 0.00004
NM_001003800.2(BICD2):c.2452A>G (p.Lys818Glu) rs200341779 0.00004
NM_001003800.2(BICD2):c.2536T>C (p.Cys846Arg) rs760624844 0.00004
NM_001003800.2(BICD2):c.285C>T (p.Asp95=) rs770839094 0.00004
NM_001003800.2(BICD2):c.485G>A (p.Arg162His) rs761506224 0.00004
NM_001003800.2(BICD2):c.640C>T (p.Arg214Cys) rs201293367 0.00004
NM_001003800.2(BICD2):c.746C>T (p.Thr249Met) rs148937530 0.00004
NM_001003800.2(BICD2):c.905G>T (p.Gly302Val) rs772599458 0.00004
NM_002180.3(IGHMBP2):c.1061-15C>T rs369119507 0.00004
NM_002180.3(IGHMBP2):c.1235+7C>T rs776813722 0.00004
NM_002180.3(IGHMBP2):c.1293C>T (p.Gly431=) rs377460631 0.00004
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789 0.00004
NM_002180.3(IGHMBP2):c.1749C>T (p.Asn583=) rs922075405 0.00004
NM_002180.3(IGHMBP2):c.1851C>T (p.Val617=) rs780238088 0.00004
NM_002180.3(IGHMBP2):c.222C>T (p.Ser74=) rs139237340 0.00004
NM_002180.3(IGHMBP2):c.2292G>A (p.Glu764=) rs145365851 0.00004
NM_002180.3(IGHMBP2):c.256+8C>T rs760649755 0.00004
NM_002180.3(IGHMBP2):c.2612-15G>A rs372230504 0.00004
NM_002180.3(IGHMBP2):c.2776C>T (p.Leu926=) rs142128884 0.00004
NM_002180.3(IGHMBP2):c.2784+7C>T rs58094037 0.00004
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=) rs3750977 0.00004
NM_002180.3(IGHMBP2):c.315C>A (p.Ile105=) rs1201956816 0.00004
NM_002180.3(IGHMBP2):c.951T>C (p.Ser317=) rs144565481 0.00004
NM_003334.4(UBA1):c.1400G>A (p.Gly467Asp) rs201504752 0.00004
NM_003334.4(UBA1):c.411G>A (p.Glu137=) rs782009712 0.00004
NM_003334.4(UBA1):c.423T>C (p.Tyr141=) rs782435953 0.00004
NM_003384.3(VRK1):c.1170C>G (p.Thr390=) rs776701715 0.00004
NM_003384.3(VRK1):c.663C>T (p.His221=) rs376006178 0.00004
NM_004082.5(DCTN1):c.1822G>A (p.Val608Met) rs780858230 0.00004
NM_004082.5(DCTN1):c.2184+18G>T rs376497087 0.00004
NM_004082.5(DCTN1):c.2467-17T>A rs371136234 0.00004
NM_004082.5(DCTN1):c.2952C>G (p.Ala984=) rs371241720 0.00004
NM_004082.5(DCTN1):c.3075G>A (p.Gln1025=) rs367898436 0.00004
NM_004082.5(DCTN1):c.3212-6C>A rs750104562 0.00004
NM_004082.5(DCTN1):c.3597C>T (p.Val1199=) rs767954436 0.00004
NM_004082.5(DCTN1):c.3654A>G (p.Thr1218=) rs774374037 0.00004
NM_004082.5(DCTN1):c.3782G>A (p.Arg1261Gln) rs553822174 0.00004
NM_004082.5(DCTN1):c.45C>T (p.Gly15=) rs72466483 0.00004
NM_004082.5(DCTN1):c.654G>A (p.Glu218=) rs758731839 0.00004
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) rs371723224 0.00004
NM_005866.4(SIGMAR1):c.456A>G (p.Val152=) rs144813067 0.00004
NM_006308.3(HSPB3):c.240C>T (p.Phe80=) rs760600821 0.00004
NM_006736.6(DNAJB2):c.446-9C>T rs375051736 0.00004
NM_016042.4(EXOSC3):c.24G>T (p.Ala8=) rs755145404 0.00004
NM_020631.6(PLEKHG5):c.1383C>T (p.Ala461=) rs200957791 0.00004
NM_020631.6(PLEKHG5):c.1572C>T (p.His524=) rs373184968 0.00004
NM_020631.6(PLEKHG5):c.2034C>T (p.Thr678=) rs755808760 0.00004
NM_020631.6(PLEKHG5):c.2226C>T (p.Ser742=) rs370761668 0.00004
NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521 0.00004
NM_020631.6(PLEKHG5):c.2676T>C (p.His892=) rs758308121 0.00004
NM_020631.6(PLEKHG5):c.531C>T (p.Thr177=) rs567059799 0.00004
NM_020631.6(PLEKHG5):c.558C>T (p.Asp186=) rs767157981 0.00004
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=) rs556687525 0.00004
NM_020631.6(PLEKHG5):c.84G>A (p.Pro28=) rs140428005 0.00004
NM_020631.6(PLEKHG5):c.909C>T (p.Tyr303=) rs376900021 0.00004
NM_020631.6(PLEKHG5):c.984+8C>T rs373560661 0.00004
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu) rs200199102 0.00004
NM_021815.5(SLC5A7):c.1119G>A (p.Ser373=) rs759819899 0.00004
NM_021815.5(SLC5A7):c.178+17C>A rs555753695 0.00004
NM_021815.5(SLC5A7):c.498C>A (p.Ile166=) rs138947334 0.00004
NM_021815.5(SLC5A7):c.540G>C (p.Gly180=) rs574474443 0.00004
NM_021815.5(SLC5A7):c.598-3C>T rs191434558 0.00004
NM_021815.5(SLC5A7):c.810T>C (p.Ala270=) rs146618904 0.00004
NM_205836.3(FBXO38):c.1213C>T (p.Leu405=) rs746060798 0.00004
NM_205836.3(FBXO38):c.1560C>T (p.Asp520=) rs774448345 0.00004
NM_205836.3(FBXO38):c.2181T>C (p.Phe727=) rs370826896 0.00004
NM_205836.3(FBXO38):c.2199C>T (p.Ser733=) rs756876029 0.00004
NM_205836.3(FBXO38):c.2226A>G (p.Thr742=) rs201175127 0.00004
NM_205836.3(FBXO38):c.27A>G (p.Lys9=) rs574130437 0.00004
NM_213720.3(CHCHD10):c.262-4C>T rs1021130344 0.00004
NM_000052.7(ATP7A):c.1103T>C (p.Leu368Ser) rs372780635 0.00003
NM_000052.7(ATP7A):c.1226G>A (p.Arg409Gln) rs201763950 0.00003
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly) rs1557232788 0.00003
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=) rs1297787618 0.00003
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile) rs782702847 0.00003
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met) rs139902461 0.00003
NM_000052.7(ATP7A):c.1870-12G>T rs1203434891 0.00003
NM_000052.7(ATP7A):c.2052T>G (p.Asn684Lys) rs781837620 0.00003
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg) rs782577253 0.00003
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His) rs782174967 0.00003
NM_000052.7(ATP7A):c.2680A>G (p.Ile894Val) rs782430502 0.00003
NM_000052.7(ATP7A):c.3274A>G (p.Ile1092Val) rs782513950 0.00003
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser) rs782764064 0.00003
NM_000052.7(ATP7A):c.3500C>G (p.Ala1167Gly) rs782231801 0.00003
NM_000052.7(ATP7A):c.3515C>T (p.Ala1172Val) rs781866452 0.00003
NM_000052.7(ATP7A):c.4223A>C (p.Lys1408Thr) rs936157944 0.00003
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924 0.00003
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) rs782237314 0.00003
NM_000052.7(ATP7A):c.984A>G (p.Pro328=) rs2077657952 0.00003
NM_001003800.2(BICD2):c.1203G>T (p.Gln401His) rs752209653 0.00003
NM_001003800.2(BICD2):c.1377G>A (p.Thr459=) rs768159358 0.00003
NM_001003800.2(BICD2):c.1381G>A (p.Glu461Lys) rs142503252 0.00003
NM_001003800.2(BICD2):c.1404C>T (p.Ala468=) rs377002671 0.00003
NM_001003800.2(BICD2):c.1440A>T (p.Ala480=) rs201784829 0.00003
NM_001003800.2(BICD2):c.1659G>A (p.Met553Ile) rs374912668 0.00003
NM_001003800.2(BICD2):c.165C>T (p.His55=) rs150915279 0.00003
NM_001003800.2(BICD2):c.1725C>G (p.Pro575=) rs201343832 0.00003
NM_001003800.2(BICD2):c.1785G>A (p.Ala595=) rs781638617 0.00003
NM_001003800.2(BICD2):c.1878C>T (p.Asn626=) rs748417533 0.00003
NM_001003800.2(BICD2):c.1947G>A (p.Thr649=) rs371647882 0.00003
NM_001003800.2(BICD2):c.1989C>T (p.Pro663=) rs377116071 0.00003
NM_001003800.2(BICD2):c.2106+3G>A rs370179608 0.00003
NM_001003800.2(BICD2):c.2192A>G (p.Asn731Ser) rs756538071 0.00003
NM_001003800.2(BICD2):c.2265C>T (p.Asp755=) rs751036331 0.00003
NM_001003800.2(BICD2):c.2386C>T (p.Leu796=) rs140205029 0.00003
NM_001003800.2(BICD2):c.2401C>T (p.Leu801=) rs776367463 0.00003
NM_001003800.2(BICD2):c.2440G>T (p.Ala814Ser) rs751158467 0.00003
NM_001003800.2(BICD2):c.2461A>G (p.Thr821Ala) rs776472510 0.00003
NM_001003800.2(BICD2):c.355C>A (p.Leu119Ile) rs377156663 0.00003
NM_001003800.2(BICD2):c.534G>A (p.Leu178=) rs771215407 0.00003
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg) rs755962512 0.00003
NM_001003800.2(BICD2):c.691C>T (p.Arg231Cys) rs754659441 0.00003
NM_001003800.2(BICD2):c.729G>A (p.Ala243=) rs200066450 0.00003
NM_001003800.2(BICD2):c.793A>G (p.Met265Val) rs779331320 0.00003
NM_001003800.2(BICD2):c.915C>T (p.His305=) rs373858530 0.00003
NM_001122955.4(BSCL2):c.1235-6G>A rs762484263 0.00003
NM_002180.3(IGHMBP2):c.1032G>A (p.Ser344=) rs779452908 0.00003
NM_002180.3(IGHMBP2):c.1236-6G>A rs201538340 0.00003
NM_002180.3(IGHMBP2):c.1418+12G>A rs946450534 0.00003
NM_002180.3(IGHMBP2):c.1791C>T (p.Ile597=) rs780440710 0.00003
NM_002180.3(IGHMBP2):c.1902G>A (p.Gly634=) rs748530497 0.00003
NM_002180.3(IGHMBP2):c.1932C>T (p.Asp644=) rs769397483 0.00003
NM_002180.3(IGHMBP2):c.225G>A (p.Ala75=) rs762291036 0.00003
NM_002180.3(IGHMBP2):c.548-19G>A rs1052895374 0.00003
NM_002180.3(IGHMBP2):c.711+8G>A rs1403938196 0.00003
NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=) rs770943023 0.00003
NM_002180.3(IGHMBP2):c.87-19A>G rs183650590 0.00003
NM_003334.4(UBA1):c.1077A>C (p.Val359=) rs782342123 0.00003
NM_003334.4(UBA1):c.1576-19C>T rs782315217 0.00003
NM_003334.4(UBA1):c.1683T>C (p.Asp561=) rs781873529 0.00003
NM_003334.4(UBA1):c.176+18C>T rs782702800 0.00003
NM_003334.4(UBA1):c.2004-12G>A rs201583168 0.00003
NM_003334.4(UBA1):c.2309A>G (p.Asn770Ser) rs1178361928 0.00003
NM_003334.4(UBA1):c.2391C>T (p.Pro797=) rs1556793279 0.00003
NM_003334.4(UBA1):c.2838+17G>A rs1467681554 0.00003
NM_003334.4(UBA1):c.852C>T (p.Ser284=) rs781839047 0.00003
NM_003334.4(UBA1):c.910-8C>T rs374197052 0.00003
NM_003384.3(VRK1):c.1069-9A>G rs767585930 0.00003
NM_003384.3(VRK1):c.577-19G>C rs781055432 0.00003
NM_003384.3(VRK1):c.882C>T (p.Asn294=) rs541660707 0.00003
NM_004082.5(DCTN1):c.1482G>A (p.Ala494=) rs372546194 0.00003
NM_004082.5(DCTN1):c.2253+20G>A rs1446016270 0.00003
NM_004082.5(DCTN1):c.2397G>A (p.Lys799=) rs145150561 0.00003
NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys) rs778201974 0.00003
NM_004082.5(DCTN1):c.2761-13G>A rs531275207 0.00003
NM_004082.5(DCTN1):c.2823G>A (p.Leu941=) rs550195526 0.00003
NM_004082.5(DCTN1):c.3444G>A (p.Leu1148=) rs139241420 0.00003
NM_004082.5(DCTN1):c.3529+11G>C rs772782095 0.00003
NM_004082.5(DCTN1):c.3721G>A (p.Asp1241Asn) rs184429549 0.00003
NM_004082.5(DCTN1):c.645+10G>A rs776017204 0.00003
NM_004738.5(VAPB):c.163A>C (p.Arg55=) rs150761013 0.00003
NM_004738.5(VAPB):c.574-14G>A rs754865953 0.00003
NM_004738.5(VAPB):c.618C>T (p.Ser206=) rs747208140 0.00003
NM_005866.4(SIGMAR1):c.353-13G>A rs370067220 0.00003
NM_005866.4(SIGMAR1):c.446-19G>A rs781431829 0.00003
NM_006736.6(DNAJB2):c.353-12T>A rs752999271 0.00003
NM_006736.6(DNAJB2):c.588G>A (p.Glu196=) rs376137700 0.00003
NM_006736.6(DNAJB2):c.783C>T (p.Tyr261=) rs762593270 0.00003
NM_020631.6(PLEKHG5):c.210+16G>T rs751082247 0.00003
NM_020631.6(PLEKHG5):c.211-20C>T rs990630026 0.00003
NM_020631.6(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639 0.00003
NM_020631.6(PLEKHG5):c.399C>T (p.Phe133=) rs369888151 0.00003
NM_020631.6(PLEKHG5):c.813G>A (p.Glu271=) rs777414805 0.00003
NM_020631.6(PLEKHG5):c.849C>T (p.Phe283=) rs750570012 0.00003
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His) rs377257364 0.00003
NM_021815.5(SLC5A7):c.1114-14G>A rs773703560 0.00003
NM_021815.5(SLC5A7):c.1529A>C (p.Lys510Thr) rs199693962 0.00003
NM_021815.5(SLC5A7):c.179-19A>C rs775209241 0.00003
NM_021815.5(SLC5A7):c.179-20C>T rs375281148 0.00003
NM_021815.5(SLC5A7):c.448+9C>A rs759922183 0.00003
NM_205836.3(FBXO38):c.1851C>T (p.Asn617=) rs764859757 0.00003
NM_205836.3(FBXO38):c.2202C>T (p.Gly734=) rs771687051 0.00003
NM_205836.3(FBXO38):c.2654-19_2654-18insC rs1348325085 0.00003
NM_205836.3(FBXO38):c.3275-14C>T rs368303623 0.00003
NM_205836.3(FBXO38):c.54A>G (p.Pro18=) rs750961469 0.00003
NM_205836.3(FBXO38):c.594G>A (p.Gly198=) rs370260497 0.00003
NM_213720.3(CHCHD10):c.156C>T (p.Ala52=) rs772696163 0.00003
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu) rs1557231845 0.00002
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu) rs782651571 0.00002
NM_000052.7(ATP7A):c.1429C>T (p.Pro477Ser) rs879981699 0.00002
NM_000052.7(ATP7A):c.1455G>T (p.Lys485Asn) rs782083382 0.00002
NM_000052.7(ATP7A):c.1543+9C>G rs367977602 0.00002
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile) rs781952393 0.00002
NM_000052.7(ATP7A):c.1749G>A (p.Glu583=) rs375479026 0.00002
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val) rs782444523 0.00002
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met) rs781959472 0.00002
NM_000052.7(ATP7A):c.1816A>G (p.Ile606Val) rs781961626 0.00002
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=) rs781957241 0.00002
NM_000052.7(ATP7A):c.2029C>G (p.His677Asp) rs782761381 0.00002
NM_000052.7(ATP7A):c.2079C>G (p.Ile693Met) rs782269377 0.00002
NM_000052.7(ATP7A):c.2107C>T (p.Arg703Cys) rs782555092 0.00002
NM_000052.7(ATP7A):c.2173-7A>T rs376179410 0.00002
NM_000052.7(ATP7A):c.2178C>T (p.Phe726=) rs572956005 0.00002
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) rs782664014 0.00002
NM_000052.7(ATP7A):c.2277C>G (p.Ala759=) rs1473914623 0.00002
NM_000052.7(ATP7A):c.2385A>G (p.Arg795=) rs1445955792 0.00002
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=) rs782315761 0.00002
NM_000052.7(ATP7A):c.2597A>G (p.His866Arg) rs1264242478 0.00002
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr) rs1427317043 0.00002
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866 0.00002
NM_000052.7(ATP7A):c.2916+10T>G rs2077902893 0.00002
NM_000052.7(ATP7A):c.2917-9C>T rs188421674 0.00002
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) rs782094358 0.00002
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620 0.00002
NM_000052.7(ATP7A):c.3262C>G (p.Leu1088Val) rs782463394 0.00002
NM_000052.7(ATP7A):c.3358A>G (p.Ser1120Gly) rs781914030 0.00002
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=) rs1179465472 0.00002
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys) rs1557238006 0.00002
NM_000052.7(ATP7A):c.3592G>A (p.Asp1198Asn) rs1374099672 0.00002
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val) rs1385333276 0.00002
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu) rs782428979 0.00002
NM_000052.7(ATP7A):c.4006-7T>C rs1406270253 0.00002
NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg) rs781912153 0.00002
NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr) rs781912401 0.00002
NM_000052.7(ATP7A):c.4124-17C>T rs371435031 0.00002
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=) rs782346811 0.00002
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp) rs782232632 0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202 0.00002
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138 0.00002
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr) rs781838499 0.00002
NM_000052.7(ATP7A):c.588G>A (p.Leu196=) rs782253237 0.00002
NM_000052.7(ATP7A):c.611-7T>C rs781898993 0.00002
NM_000052.7(ATP7A):c.6T>C (p.Asp2=) rs951178780 0.00002
NM_000052.7(ATP7A):c.817T>C (p.Tyr273His) rs1557231780 0.00002
NM_000052.7(ATP7A):c.840T>G (p.Thr280=) rs782713333 0.00002
NM_000052.7(ATP7A):c.909A>G (p.Gln303=) rs372389715 0.00002
NM_001003800.2(BICD2):c.1126A>G (p.Thr376Ala) rs757885234 0.00002
NM_001003800.2(BICD2):c.1128G>A (p.Thr376=) rs184715042 0.00002
NM_001003800.2(BICD2):c.1130G>A (p.Arg377Gln) rs752402307 0.00002
NM_001003800.2(BICD2):c.1341C>T (p.Gly447=) rs750241183 0.00002
NM_001003800.2(BICD2):c.1349G>A (p.Arg450His) rs545926410 0.00002
NM_001003800.2(BICD2):c.1417C>T (p.Arg473Cys) rs142203302 0.00002
NM_001003800.2(BICD2):c.1477C>T (p.Arg493Cys) rs146113445 0.00002
NM_001003800.2(BICD2):c.1488C>T (p.Arg496=) rs750614733 0.00002
NM_001003800.2(BICD2):c.1492C>T (p.Leu498=) rs200489354 0.00002
NM_001003800.2(BICD2):c.1687G>A (p.Gly563Arg) rs916661191 0.00002
NM_001003800.2(BICD2):c.1805C>T (p.Thr602Met) rs369050350 0.00002
NM_001003800.2(BICD2):c.1963C>T (p.Arg655Cys) rs148287063 0.00002
NM_001003800.2(BICD2):c.1964G>A (p.Arg655His) rs143242735 0.00002
NM_001003800.2(BICD2):c.2112C>T (p.Ala704=) rs767670894 0.00002
NM_001003800.2(BICD2):c.2340G>A (p.Ser780=) rs754249319 0.00002
NM_001003800.2(BICD2):c.2506G>A (p.Glu836Lys) rs779724776 0.00002
NM_001003800.2(BICD2):c.368C>T (p.Thr123Met) rs372717499 0.00002
NM_001003800.2(BICD2):c.390T>C (p.Asn130=) rs979012435 0.00002
NM_001003800.2(BICD2):c.405G>A (p.Thr135=) rs746102380 0.00002
NM_001003800.2(BICD2):c.410C>T (p.Ser137Leu) rs779298360 0.00002
NM_001003800.2(BICD2):c.546G>A (p.Ser182=) rs770320084 0.00002
NM_001003800.2(BICD2):c.641G>A (p.Arg214His) rs373760993 0.00002
NM_001003800.2(BICD2):c.752G>A (p.Arg251His) rs533199924 0.00002
NM_001003800.2(BICD2):c.803A>G (p.Asn268Ser) rs566510315 0.00002
NM_001003800.2(BICD2):c.849C>G (p.Leu283=) rs757409146 0.00002
NM_001003800.2(BICD2):c.991A>G (p.Ser331Gly) rs775155214 0.00002
NM_001540.5(HSPB1):c.498G>A (p.Glu166=) rs148357753 0.00002
NM_002180.3(IGHMBP2):c.1060+11G>A rs761888334 0.00002
NM_002180.3(IGHMBP2):c.1061-19G>A rs775305272 0.00002
NM_002180.3(IGHMBP2):c.1065G>A (p.Ala355=) rs529978266 0.00002
NM_002180.3(IGHMBP2):c.1071C>T (p.Ala357=) rs755300047 0.00002
NM_002180.3(IGHMBP2):c.1110C>T (p.Asp370=) rs749110357 0.00002
NM_002180.3(IGHMBP2):c.1538-19G>A rs199911239 0.00002
NM_002180.3(IGHMBP2):c.1538-4C>G rs757915735 0.00002
NM_002180.3(IGHMBP2):c.207C>T (p.Pro69=) rs188719450 0.00002
NM_002180.3(IGHMBP2):c.216C>T (p.Tyr72=) rs755468547 0.00002
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val) rs754473710 0.00002
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=) rs759271458 0.00002
NM_002180.3(IGHMBP2):c.2685C>T (p.Asn895=) rs764107109 0.00002
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=) rs772280279 0.00002
NM_002180.3(IGHMBP2):c.2836C>T (p.Arg946Trp) rs373943338 0.00002
NM_002180.3(IGHMBP2):c.2862C>T (p.Ser954=) rs377433281 0.00002
NM_002180.3(IGHMBP2):c.2925G>A (p.Lys975=) rs890113569 0.00002
NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=) rs150937080 0.00002
NM_002180.3(IGHMBP2):c.639T>C (p.His213=) rs764495455 0.00002
NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=) rs771900045 0.00002
NM_003334.4(UBA1):c.117+10C>T rs1390029777 0.00002
NM_003334.4(UBA1):c.118-10C>T rs1288832522 0.00002
NM_003334.4(UBA1):c.1234-9C>T rs374680331 0.00002
NM_003334.4(UBA1):c.1294C>T (p.Leu432Phe) rs781838601 0.00002
NM_003334.4(UBA1):c.1420-8C>T rs782038176 0.00002
NM_003334.4(UBA1):c.1638A>G (p.Thr546=) rs201169336 0.00002
NM_003334.4(UBA1):c.1851G>A (p.Ser617=) rs782523119 0.00002
NM_003334.4(UBA1):c.1875T>C (p.Pro625=) rs1361428166 0.00002
NM_003334.4(UBA1):c.2292T>C (p.Tyr764=) rs782394637 0.00002
NM_003334.4(UBA1):c.2464+9_2464+16del rs782707059 0.00002
NM_003334.4(UBA1):c.2465-17T>C rs1354603007 0.00002
NM_003334.4(UBA1):c.2725C>T (p.Leu909=) rs1268375603 0.00002
NM_003334.4(UBA1):c.2940+4A>G rs782751765 0.00002
NM_003334.4(UBA1):c.2949C>T (p.His983=) rs139697760 0.00002
NM_003334.4(UBA1):c.334C>T (p.Leu112Phe) rs782536219 0.00002
NM_003334.4(UBA1):c.687C>T (p.Pro229=) rs782311444 0.00002
NM_003334.4(UBA1):c.812-8C>T rs1196797596 0.00002
NM_003334.4(UBA1):c.819T>C (p.Tyr273=) rs782480767 0.00002
NM_003334.4(UBA1):c.910-7G>A rs782321523 0.00002
NM_003334.4(UBA1):c.93C>T (p.Ser31=) rs782703384 0.00002
NM_003334.4(UBA1):c.954G>A (p.Thr318=) rs368506746 0.00002
NM_003384.3(VRK1):c.1065A>C (p.Thr355=) rs765863043 0.00002
NM_003384.3(VRK1):c.1164A>C (p.Ser388=) rs760801260 0.00002
NM_003384.3(VRK1):c.327T>G (p.Gly109=) rs560242666 0.00002
NM_003384.3(VRK1):c.39C>T (p.Ser13=) rs759767615 0.00002
NM_003384.3(VRK1):c.462C>T (p.Val154=) rs757654085 0.00002
NM_004082.5(DCTN1):c.1288-10C>T rs72659375 0.00002
NM_004082.5(DCTN1):c.1288-9G>A rs201425449 0.00002
NM_004082.5(DCTN1):c.1398G>A (p.Ala466=) rs371253917 0.00002
NM_004082.5(DCTN1):c.1926G>A (p.Leu642=) rs758298791 0.00002
NM_004082.5(DCTN1):c.1947A>G (p.Gln649=) rs756173900 0.00002
NM_004082.5(DCTN1):c.21C>T (p.His7=) rs373040626 0.00002
NM_004082.5(DCTN1):c.2373C>T (p.Cys791=) rs759688608 0.00002
NM_004082.5(DCTN1):c.246T>C (p.Asp82=) rs1323483918 0.00002
NM_004082.5(DCTN1):c.2544T>C (p.Ala848=) rs1371265373 0.00002
NM_004082.5(DCTN1):c.2736T>C (p.Tyr912=) rs72659381 0.00002
NM_004082.5(DCTN1):c.280-19A>G rs747687955 0.00002
NM_004082.5(DCTN1):c.2814T>C (p.Ala938=) rs1475285679 0.00002
NM_004082.5(DCTN1):c.2925C>T (p.Leu975=) rs1185611985 0.00002
NM_004082.5(DCTN1):c.3030-11C>G rs770969863 0.00002
NM_004082.5(DCTN1):c.33+9C>T rs775298728 0.00002
NM_004082.5(DCTN1):c.359-4A>G rs754070367 0.00002
NM_004082.5(DCTN1):c.3699+16G>A rs747490958 0.00002
NM_004082.5(DCTN1):c.36G>A (p.Thr12=) rs1394864492 0.00002
NM_004082.5(DCTN1):c.3726A>G (p.Thr1242=) rs377745224 0.00002
NM_004738.5(VAPB):c.*2885G>C rs578172184 0.00002
NM_004738.5(VAPB):c.211+19G>A rs1225492890 0.00002
NM_004738.5(VAPB):c.397-16A>G rs767598860 0.00002
NM_004738.5(VAPB):c.465G>A (p.Lys155=) rs779988555 0.00002
NM_005866.4(SIGMAR1):c.339C>T (p.Ser113=) rs754738945 0.00002
NM_005866.4(SIGMAR1):c.519C>T (p.Tyr173=) rs761290005 0.00002
NM_005866.4(SIGMAR1):c.528C>T (p.Gly176=) rs762524711 0.00002
NM_006308.3(HSPB3):c.-17C>A rs780916524 0.00002
NM_006736.6(DNAJB2):c.230-15A>C rs776440511 0.00002
NM_006736.6(DNAJB2):c.360G>A (p.Leu120=) rs748939785 0.00002
NM_006736.6(DNAJB2):c.548+14C>T rs893873016 0.00002
NM_006736.6(DNAJB2):c.549-9C>T rs542308257 0.00002
NM_006736.6(DNAJB2):c.620-19G>A rs1294521496 0.00002
NM_006736.6(DNAJB2):c.759G>A (p.Glu253=) rs775630178 0.00002
NM_016042.4(EXOSC3):c.324+15C>T rs775818894 0.00002
NM_016042.4(EXOSC3):c.783G>A (p.Thr261=) rs376325566 0.00002
NM_020631.6(PLEKHG5):c.1293C>T (p.Leu431=) rs758869678 0.00002
NM_020631.6(PLEKHG5):c.1356G>A (p.Leu452=) rs775124601 0.00002
NM_020631.6(PLEKHG5):c.1731C>T (p.Ala577=) rs138441206 0.00002
NM_020631.6(PLEKHG5):c.2049+9A>G rs368743607 0.00002
NM_020631.6(PLEKHG5):c.2124G>A (p.Glu708=) rs370521517 0.00002
NM_020631.6(PLEKHG5):c.2274C>G (p.Thr758=) rs147386989 0.00002
NM_020631.6(PLEKHG5):c.2391G>A (p.Thr797=) rs1330946628 0.00002
NM_020631.6(PLEKHG5):c.2431C>T (p.Arg811Cys) rs538561788 0.00002
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412 0.00002
NM_020631.6(PLEKHG5):c.2505A>T (p.Pro835=) rs201034547 0.00002
NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=) rs758214289 0.00002
NM_020631.6(PLEKHG5):c.2811C>T (p.Ser937=) rs1232546435 0.00002
NM_020631.6(PLEKHG5):c.2838C>T (p.Ala946=) rs573561537 0.00002
NM_020631.6(PLEKHG5):c.2856C>T (p.Ser952=) rs759718802 0.00002
NM_020631.6(PLEKHG5):c.3012-12C>T rs752907238 0.00002
NM_020631.6(PLEKHG5):c.440-10C>T rs201656051 0.00002
NM_020631.6(PLEKHG5):c.440-11C>T rs747418024 0.00002
NM_020631.6(PLEKHG5):c.477G>A (p.Gln159=) rs373744190 0.00002
NM_020631.6(PLEKHG5):c.795+13A>G rs766753209 0.00002
NM_020631.6(PLEKHG5):c.796-4C>T rs1315270235 0.00002
NM_020631.6(PLEKHG5):c.903G>A (p.Glu301=) rs780277728 0.00002
NM_020631.6(PLEKHG5):c.99C>T (p.Pro33=) rs775878865 0.00002
NM_021815.5(SLC5A7):c.1731T>C (p.Asp577=) rs766941461 0.00002
NM_021815.5(SLC5A7):c.180T>C (p.Ala60=) rs146871193 0.00002
NM_021815.5(SLC5A7):c.597+7G>A rs377267197 0.00002
NM_205836.3(FBXO38):c.1918+11G>A rs746955866 0.00002
NM_205836.3(FBXO38):c.2211C>T (p.Ser737=) rs145527741 0.00002
NM_205836.3(FBXO38):c.2424G>A (p.Pro808=) rs1333921499 0.00002
NM_205836.3(FBXO38):c.2679C>T (p.His893=) rs747893527 0.00002
NM_205836.3(FBXO38):c.3504A>G (p.Val1168=) rs750597830 0.00002
NM_205836.3(FBXO38):c.69A>G (p.Ala23=) rs141470888 0.00002
NM_213720.3(CHCHD10):c.153G>T (p.Thr51=) rs772927642 0.00002
NM_213720.3(CHCHD10):c.262-7C>T rs533095236 0.00002
NM_000052.7(ATP7A):c.1023G>C (p.Gly341=) rs374656309 0.00001
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr) rs368982547 0.00001
NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser) rs1557231866 0.00001
NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val) rs1349223430 0.00001
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=) rs147225045 0.00001
NM_000052.7(ATP7A):c.121-12T>C rs1557231556 0.00001
NM_000052.7(ATP7A):c.1222A>G (p.Ile408Val) rs782815622 0.00001
NM_000052.7(ATP7A):c.1247A>C (p.Asn416Thr) rs1557231909 0.00001
NM_000052.7(ATP7A):c.1252A>T (p.Thr418Ser) rs782505393 0.00001
NM_000052.7(ATP7A):c.1255G>T (p.Val419Phe) rs782635238 0.00001
NM_000052.7(ATP7A):c.1259A>G (p.Glu420Gly) rs782530774 0.00001
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly) rs2077660217 0.00001
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met) rs782018636 0.00001
NM_000052.7(ATP7A):c.1290G>A (p.Thr430=) rs143036870 0.00001
NM_000052.7(ATP7A):c.1302A>C (p.Ala434=) rs782148279 0.00001
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala) rs1227094533 0.00001
NM_000052.7(ATP7A):c.1337-5A>G rs371146030 0.00001
NM_000052.7(ATP7A):c.1341G>A (p.Thr447=) rs782292643 0.00001
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) rs781964005 0.00001
NM_000052.7(ATP7A):c.1399A>G (p.Thr467Ala) rs782416233 0.00001
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly) rs781834607 0.00001
NM_000052.7(ATP7A):c.1497C>T (p.Cys499=) rs782495317 0.00001
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313 0.00001
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly) rs368355216 0.00001
NM_000052.7(ATP7A):c.1583C>G (p.Ala528Gly) rs1557233359 0.00001
NM_000052.7(ATP7A):c.1590A>G (p.Val530=) rs1557233367 0.00001
NM_000052.7(ATP7A):c.1602T>C (p.Pro534=) rs1056057247 0.00001
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln) rs782491733 0.00001
NM_000052.7(ATP7A):c.168A>G (p.Leu56=) rs782612734 0.00001
NM_000052.7(ATP7A):c.1707+16T>C rs1557233398 0.00001
NM_000052.7(ATP7A):c.1708-9C>G rs1557234077 0.00001
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn) rs371777895 0.00001
NM_000052.7(ATP7A):c.1811C>T (p.Ala604Val) rs375103934 0.00001
NM_000052.7(ATP7A):c.1825G>C (p.Asp609His) rs782764596 0.00001
NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu) rs781872960 0.00001
NM_000052.7(ATP7A):c.1834A>G (p.Ile612Val) rs1318638094 0.00001
NM_000052.7(ATP7A):c.1878T>C (p.Gly626=) rs782299586 0.00001
NM_000052.7(ATP7A):c.1902G>A (p.Lys634=) rs782315947 0.00001
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln) rs1557234412 0.00001
NM_000052.7(ATP7A):c.1946+11T>C rs1557234428 0.00001
NM_000052.7(ATP7A):c.1947-5A>G rs1557234466 0.00001
NM_000052.7(ATP7A):c.1947-7A>G rs2077824853 0.00001
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn) rs782629836 0.00001
NM_000052.7(ATP7A):c.2032T>C (p.Phe678Leu) rs781792854 0.00001
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile) rs782455461 0.00001
NM_000052.7(ATP7A):c.204C>T (p.Asp68=) rs1557231573 0.00001
NM_000052.7(ATP7A):c.2053C>G (p.Gln685Glu) rs1557234510 0.00001
NM_000052.7(ATP7A):c.2103G>T (p.Leu701=) rs1318545869 0.00001
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His) rs2234936 0.00001
NM_000052.7(ATP7A):c.2142G>A (p.Leu714=) rs782037158 0.00001
NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val) rs1557234537 0.00001
NM_000052.7(ATP7A):c.2161G>T (p.Val721Leu) rs1557234543 0.00001
NM_000052.7(ATP7A):c.219T>C (p.Ala73=) rs1557231581 0.00001
NM_000052.7(ATP7A):c.2209A>G (p.Lys737Glu) rs782240491 0.00001
NM_000052.7(ATP7A):c.2212G>A (p.Ala738Thr) rs782389012 0.00001
NM_000052.7(ATP7A):c.2226G>C (p.Lys742Asn) rs782293297 0.00001
NM_000052.7(ATP7A):c.2253G>A (p.Val751=) rs782375469 0.00001
NM_000052.7(ATP7A):c.2254C>G (p.Leu752Val) rs1157086859 0.00001
NM_000052.7(ATP7A):c.2276C>T (p.Ala759Val) rs1557234739 0.00001
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp) rs1443260520 0.00001
NM_000052.7(ATP7A):c.2340C>T (p.Phe780=) rs2077838145 0.00001
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=) rs1557234754 0.00001
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val) rs782770209 0.00001
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val) rs1557234931 0.00001
NM_000052.7(ATP7A):c.2442A>G (p.Ser814=) rs781953495 0.00001
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=) rs368261204 0.00001
NM_000052.7(ATP7A):c.2499-9T>C rs1557235070 0.00001
NM_000052.7(ATP7A):c.2505A>G (p.Glu835=) rs1420350554 0.00001
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=) rs781950120 0.00001
NM_000052.7(ATP7A):c.255T>C (p.Thr85=) rs1557231589 0.00001
NM_000052.7(ATP7A):c.2565A>G (p.Lys855=) rs1557235088 0.00001
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236 0.00001
NM_000052.7(ATP7A):c.2595A>G (p.Gly865=) rs1557235097 0.00001
NM_000052.7(ATP7A):c.2627-17C>T rs782200911 0.00001
NM_000052.7(ATP7A):c.2691C>T (p.Asn897=) rs781928048 0.00001
NM_000052.7(ATP7A):c.2697A>G (p.Ser899=) rs1557235606 0.00001
NM_000052.7(ATP7A):c.2712A>C (p.Ala904=) rs1396353749 0.00001
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile) rs369335432 0.00001
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=) rs1557235619 0.00001
NM_000052.7(ATP7A):c.2797T>C (p.Phe933Leu) rs782225818 0.00001
NM_000052.7(ATP7A):c.2865A>G (p.Val955=) rs1557235728 0.00001
NM_000052.7(ATP7A):c.2917-7T>C rs376898023 0.00001
NM_000052.7(ATP7A):c.2923A>G (p.Asn975Asp) rs1557236695 0.00001
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser) rs1557236698 0.00001
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala) rs782480109 0.00001
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) rs181435872 0.00001
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=) rs371089220 0.00001
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=) rs1057518370 0.00001
NM_000052.7(ATP7A):c.318A>G (p.Thr106=) rs781851530 0.00001
NM_000052.7(ATP7A):c.3198C>T (p.Asn1066=) rs2077983590 0.00001
NM_000052.7(ATP7A):c.3240T>C (p.Ala1080=) rs1557237065 0.00001
NM_000052.7(ATP7A):c.3294+10T>A rs2077984363 0.00001
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser) rs782066060 0.00001
NM_000052.7(ATP7A):c.330C>A (p.Thr110=) rs1557231608 0.00001
NM_000052.7(ATP7A):c.3396G>T (p.Lys1132Asn) rs782548907 0.00001
NM_000052.7(ATP7A):c.3455C>T (p.Ala1152Val) rs371409820 0.00001
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly) rs1363235909 0.00001
NM_000052.7(ATP7A):c.3554G>A (p.Arg1185Gln) rs782435305 0.00001
NM_000052.7(ATP7A):c.3591C>T (p.Asn1197=) rs1391918882 0.00001
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile) rs782026169 0.00001
NM_000052.7(ATP7A):c.3606C>T (p.Phe1202=) rs782173299 0.00001
NM_000052.7(ATP7A):c.3659-5A>G rs1557238245 0.00001
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) rs782664232 0.00001
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=) rs1557238252 0.00001
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg) rs1557238254 0.00001
NM_000052.7(ATP7A):c.3802-9A>G rs1557238565 0.00001
NM_000052.7(ATP7A):c.3885G>A (p.Arg1295=) rs895520660 0.00001
NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu) rs782628250 0.00001
NM_000052.7(ATP7A):c.3903T>C (p.Asp1301=) rs782582761 0.00001
NM_000052.7(ATP7A):c.3915C>T (p.Asp1305=) rs781872987 0.00001
NM_000052.7(ATP7A):c.3942G>A (p.Val1314=) rs1569550333 0.00001
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=) rs1271447006 0.00001
NM_000052.7(ATP7A):c.4005+10A>G rs782188201 0.00001
NM_000052.7(ATP7A):c.4006-11T>A rs1325784914 0.00001
NM_000052.7(ATP7A):c.4132A>G (p.Met1378Val) rs782161783 0.00001
NM_000052.7(ATP7A):c.4152G>A (p.Leu1384=) rs781939808 0.00001
NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu) rs1557231629 0.00001
NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser) rs189818149 0.00001
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=) rs2078077936 0.00001
NM_000052.7(ATP7A):c.4227-12del rs1557239080 0.00001
NM_000052.7(ATP7A):c.4254T>C (p.Tyr1418=) rs990337633 0.00001
NM_000052.7(ATP7A):c.4293T>C (p.Pro1431=) rs1569550372 0.00001
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg) rs1557239111 0.00001
NM_000052.7(ATP7A):c.4311T>C (p.His1437=) rs782541211 0.00001
NM_000052.7(ATP7A):c.4355T>G (p.Leu1452Trp) rs1557239117 0.00001
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp) rs1457236338 0.00001
NM_000052.7(ATP7A):c.4375T>C (p.Tyr1459His) rs782272603 0.00001
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) rs782062633 0.00001
NM_000052.7(ATP7A):c.4426A>T (p.Ser1476Cys) rs1557239144 0.00001
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala) rs782799150 0.00001
NM_000052.7(ATP7A):c.4449C>T (p.Asp1483=) rs1557239148 0.00001
NM_000052.7(ATP7A):c.4497A>C (p.Ala1499=) rs782053901 0.00001
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu) rs782716555 0.00001
NM_000052.7(ATP7A):c.498T>C (p.Ala166=) rs782701351 0.00001
NM_000052.7(ATP7A):c.506G>A (p.Gly169Asp) rs782485590 0.00001
NM_000052.7(ATP7A):c.513C>T (p.Val171=) rs782643553 0.00001
NM_000052.7(ATP7A):c.514G>A (p.Val172Met) rs782248978 0.00001
NM_000052.7(ATP7A):c.531G>A (p.Val177=) rs1557231650 0.00001
NM_000052.7(ATP7A):c.532G>A (p.Glu178Lys) rs782675275 0.00001
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro) rs1557231656 0.00001
NM_000052.7(ATP7A):c.579T>A (p.Ile193=) rs2077652795 0.00001
NM_000052.7(ATP7A):c.605T>G (p.Ile202Ser) rs1557231670 0.00001
NM_000052.7(ATP7A):c.611-4C>T rs1287080060 0.00001
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile) rs1557231734 0.00001
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys) rs374855698 0.00001
NM_000052.7(ATP7A):c.807G>A (p.Arg269=) rs868946047 0.00001
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu) rs782146244 0.00001
NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu) rs1039952708 0.00001
NM_000052.7(ATP7A):c.891T>A (p.Ser297Arg) rs782449900 0.00001
NM_000052.7(ATP7A):c.933T>C (p.Ser311=) rs782638418 0.00001
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=) rs1557231829 0.00001
NM_001003800.2(BICD2):c.1002C>T (p.Ser334=) rs1403546969 0.00001
NM_001003800.2(BICD2):c.1026C>T (p.Ile342=) rs377363410 0.00001
NM_001003800.2(BICD2):c.1080G>A (p.Ala360=) rs776734115 0.00001
NM_001003800.2(BICD2):c.1095G>A (p.Thr365=) rs772489772 0.00001
NM_001003800.2(BICD2):c.1166G>A (p.Arg389His) rs762910297 0.00001
NM_001003800.2(BICD2):c.1195C>T (p.Arg399Cys) rs200542458 0.00001
NM_001003800.2(BICD2):c.1196G>A (p.Arg399His) rs372251238 0.00001
NM_001003800.2(BICD2):c.1211A>G (p.Lys404Arg) rs754667036 0.00001
NM_001003800.2(BICD2):c.1212G>A (p.Lys404=) rs1024172888 0.00001
NM_001003800.2(BICD2):c.1233C>T (p.Asp411=) rs1263910742 0.00001
NM_001003800.2(BICD2):c.132C>G (p.Ala44=) rs1431463618 0.00001
NM_001003800.2(BICD2):c.1371C>T (p.Arg457=) rs770158042 0.00001
NM_001003800.2(BICD2):c.1407G>A (p.Glu469=) rs1853403291 0.00001
NM_001003800.2(BICD2):c.1445C>T (p.Thr482Met) rs761146388 0.00001
NM_001003800.2(BICD2):c.1500C>T (p.Ala500=) rs1275858663 0.00001
NM_001003800.2(BICD2):c.1533C>T (p.Asp511=) rs773725679 0.00001
NM_001003800.2(BICD2):c.1542C>T (p.Gly514=) rs1240963153 0.00001
NM_001003800.2(BICD2):c.162G>C (p.Lys54Asn) rs779949554 0.00001
NM_001003800.2(BICD2):c.1686C>T (p.Gly562=) rs369522942 0.00001
NM_001003800.2(BICD2):c.1693G>A (p.Gly565Ser) rs1302642659 0.00001
NM_001003800.2(BICD2):c.1708G>A (p.Gly570Arg) rs1478607428 0.00001
NM_001003800.2(BICD2):c.1733G>A (p.Arg578His) rs776528966 0.00001
NM_001003800.2(BICD2):c.1770G>A (p.Leu590=) rs1347133721 0.00001
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp) rs1445290655 0.00001
NM_001003800.2(BICD2):c.1886A>G (p.Asn629Ser) rs768918778 0.00001
NM_001003800.2(BICD2):c.1990G>A (p.Ala664Thr) rs752300430 0.00001
NM_001003800.2(BICD2):c.1992C>T (p.Ala664=) rs767316412 0.00001
NM_001003800.2(BICD2):c.2013G>A (p.Ala671=) rs552216061 0.00001
NM_001003800.2(BICD2):c.2028C>T (p.Ile676=) rs370600458 0.00001
NM_001003800.2(BICD2):c.2031C>T (p.Leu677=) rs1321291810 0.00001
NM_001003800.2(BICD2):c.2043G>A (p.Ser681=) rs746297393 0.00001
NM_001003800.2(BICD2):c.2107-7C>A rs757247225 0.00001
NM_001003800.2(BICD2):c.213C>T (p.Ile71=) rs1057521518 0.00001
NM_001003800.2(BICD2):c.2145T>C (p.Tyr715=) rs1042399429 0.00001
NM_001003800.2(BICD2):c.2169C>T (p.Thr723=) rs770335133 0.00001
NM_001003800.2(BICD2):c.2196G>A (p.Glu732=) rs367722713 0.00001
NM_001003800.2(BICD2):c.222G>A (p.Glu74=) rs138918080 0.00001
NM_001003800.2(BICD2):c.2258+11T>C rs929825881 0.00001
NM_001003800.2(BICD2):c.2259G>A (p.Arg753=) rs921619761 0.00001
NM_001003800.2(BICD2):c.2307G>A (p.Ala769=) rs573705109 0.00001
NM_001003800.2(BICD2):c.2334G>A (p.Leu778=) rs950657224 0.00001
NM_001003800.2(BICD2):c.2339C>T (p.Ser780Leu) rs377454040 0.00001
NM_001003800.2(BICD2):c.2373G>A (p.Ala791=) rs572517685 0.00001
NM_001003800.2(BICD2):c.2500A>G (p.Arg834Gly) rs755577434 0.00001
NM_001003800.2(BICD2):c.321G>A (p.Ser107=) rs750735477 0.00001
NM_001003800.2(BICD2):c.354G>A (p.Val118=) rs1853628487 0.00001
NM_001003800.2(BICD2):c.369G>A (p.Thr123=) rs200399010 0.00001
NM_001003800.2(BICD2):c.411G>A (p.Ser137=) rs201096970 0.00001
NM_001003800.2(BICD2):c.440A>G (p.Gln147Arg) rs764759240 0.00001
NM_001003800.2(BICD2):c.510C>T (p.Tyr170=) rs1330116801 0.00001
NM_001003800.2(BICD2):c.531G>C (p.Leu177=) rs1057523240 0.00001
NM_001003800.2(BICD2):c.54G>A (p.Gln18=) rs746869464 0.00001
NM_001003800.2(BICD2):c.591G>A (p.Val197=) rs41316958 0.00001
NM_001003800.2(BICD2):c.606+7C>G rs1164296084 0.00001
NM_001003800.2(BICD2):c.657C>T (p.Thr219=) rs934722432 0.00001
NM_001003800.2(BICD2):c.723G>A (p.Glu241=) rs1320353578 0.00001
NM_001003800.2(BICD2):c.747G>A (p.Thr249=) rs145083783 0.00001
NM_001003800.2(BICD2):c.748G>C (p.Glu250Gln) rs369847588 0.00001
NM_001003800.2(BICD2):c.78G>A (p.Val26=) rs752899435 0.00001
NM_001003800.2(BICD2):c.816C>T (p.Tyr272=) rs368490787 0.00001
NM_001003800.2(BICD2):c.837G>A (p.Ser279=) rs141444039 0.00001
NM_001003800.2(BICD2):c.878A>G (p.Asn293Ser) rs767895612 0.00001
NM_001003800.2(BICD2):c.927C>T (p.Ala309=) rs780098431 0.00001
NM_001003800.2(BICD2):c.969G>A (p.Glu323=) rs752952319 0.00001
NM_001003800.2(BICD2):c.975C>T (p.Leu325=) rs368131334 0.00001
NM_001003800.2(BICD2):c.980C>T (p.Pro327Leu) rs772728967 0.00001
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) rs748736063 0.00001
NM_001122955.4(BSCL2):c.88-634G>C rs575422877 0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) rs748195771 0.00001
NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=) rs754694929 0.00001
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met) rs746139865 0.00001
NM_002180.3(IGHMBP2):c.1038C>T (p.Asn346=) rs773013486 0.00001
NM_002180.3(IGHMBP2):c.1077C>T (p.Gly359=) rs1247103419 0.00001
NM_002180.3(IGHMBP2):c.1120A>G (p.Ile374Val) rs374845226 0.00001
NM_002180.3(IGHMBP2):c.1137G>A (p.Gln379=) rs35995205 0.00001
NM_002180.3(IGHMBP2):c.1140C>T (p.Ala380=) rs1176740254 0.00001
NM_002180.3(IGHMBP2):c.1167G>C (p.Leu389=) rs369809006 0.00001
NM_002180.3(IGHMBP2):c.1185C>T (p.Cys395=) rs756733490 0.00001
NM_002180.3(IGHMBP2):c.1197C>T (p.Gly399=) rs377631839 0.00001
NM_002180.3(IGHMBP2):c.1235+9C>T rs553889213 0.00001
NM_002180.3(IGHMBP2):c.1236-4G>A rs746867102 0.00001
NM_002180.3(IGHMBP2):c.1296G>A (p.Ala432=) rs759035035 0.00001
NM_002180.3(IGHMBP2):c.129A>G (p.Arg43=) rs368706911 0.00001
NM_002180.3(IGHMBP2):c.1344C>T (p.Ile448=) rs1209510520 0.00001
NM_002180.3(IGHMBP2):c.1386A>G (p.Thr462=) rs1321342951 0.00001
NM_002180.3(IGHMBP2):c.1407G>A (p.Arg469=) rs1302845532 0.00001
NM_002180.3(IGHMBP2):c.1452G>A (p.Thr484=) rs1368846781 0.00001
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=) rs370367228 0.00001
NM_002180.3(IGHMBP2):c.1483G>A (p.Gly495Ser) rs201964221 0.00001
NM_002180.3(IGHMBP2):c.1515C>T (p.Asp505=) rs538496164 0.00001
NM_002180.3(IGHMBP2):c.1530G>A (p.Gly510=) rs1210997043 0.00001
NM_002180.3(IGHMBP2):c.1537+17A>G rs1164525405 0.00001
NM_002180.3(IGHMBP2):c.1537+9G>C rs1859419581 0.00001
NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=) rs988590959 0.00001
NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=) rs746241618 0.00001
NM_002180.3(IGHMBP2):c.162C>T (p.Ser54=) rs747822666 0.00001
NM_002180.3(IGHMBP2):c.1722C>T (p.Ala574=) rs200081534 0.00001
NM_002180.3(IGHMBP2):c.1756+13C>T rs568649635 0.00001
NM_002180.3(IGHMBP2):c.1756+17A>G rs757390726 0.00001
NM_002180.3(IGHMBP2):c.1756+8G>T rs1441125557 0.00001
NM_002180.3(IGHMBP2):c.1757-6T>C rs1594455341 0.00001
NM_002180.3(IGHMBP2):c.175C>T (p.Leu59=) rs1388384906 0.00001
NM_002180.3(IGHMBP2):c.1983C>T (p.His661=) rs752907111 0.00001
NM_002180.3(IGHMBP2):c.2022G>A (p.Arg674=) rs111366439 0.00001
NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=) rs886048606 0.00001
NM_002180.3(IGHMBP2):c.2175C>T (p.Gly725=) rs773046519 0.00001
NM_002180.3(IGHMBP2):c.2259C>T (p.His753=) rs777663590 0.00001
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838 0.00001
NM_002180.3(IGHMBP2):c.2307C>T (p.His769=) rs909093295 0.00001
NM_002180.3(IGHMBP2):c.2346G>A (p.Val782=) rs1349360990 0.00001
NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=) rs187924099 0.00001
NM_002180.3(IGHMBP2):c.2397C>T (p.Thr799=) rs763818374 0.00001
NM_002180.3(IGHMBP2):c.2415C>G (p.Leu805=) rs1429055770 0.00001
NM_002180.3(IGHMBP2):c.243C>T (p.Asn81=) rs1594415602 0.00001
NM_002180.3(IGHMBP2):c.246C>T (p.Ser82=) rs1057524376 0.00001
NM_002180.3(IGHMBP2):c.2496G>A (p.Thr832=) rs756948501 0.00001
NM_002180.3(IGHMBP2):c.2499G>A (p.Leu833=) rs371840404 0.00001
NM_002180.3(IGHMBP2):c.256+7G>A rs1312545588 0.00001
NM_002180.3(IGHMBP2):c.2611+9A>G rs778897070 0.00001
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=) rs770556515 0.00001
NM_002180.3(IGHMBP2):c.267G>C (p.Val89=) rs932085759 0.00001
NM_002180.3(IGHMBP2):c.2688C>G (p.Thr896=) rs1566448372 0.00001
NM_002180.3(IGHMBP2):c.2724C>T (p.Thr908=) rs1234917202 0.00001
NM_002180.3(IGHMBP2):c.2796C>T (p.Cys932=) rs112870015 0.00001
NM_002180.3(IGHMBP2):c.2838G>A (p.Arg946=) rs778821393 0.00001
NM_002180.3(IGHMBP2):c.2928G>A (p.Lys976=) rs749364778 0.00001
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=) rs768924538 0.00001
NM_002180.3(IGHMBP2):c.2943C>T (p.Ser981=) rs773684186 0.00001
NM_002180.3(IGHMBP2):c.2949G>A (p.Gln983=) rs761315649 0.00001
NM_002180.3(IGHMBP2):c.2958C>T (p.Ser986=) rs754380977 0.00001
NM_002180.3(IGHMBP2):c.342C>A (p.Val114=) rs756861635 0.00001
NM_002180.3(IGHMBP2):c.345G>A (p.Thr115=) rs747166731 0.00001
NM_002180.3(IGHMBP2):c.399C>G (p.Ser133=) rs1272309665 0.00001
NM_002180.3(IGHMBP2):c.453C>T (p.Ala151=) rs752694569 0.00001
NM_002180.3(IGHMBP2):c.492C>T (p.Ser164=) rs1381446523 0.00001
NM_002180.3(IGHMBP2):c.547+9T>G rs886048603 0.00001
NM_002180.3(IGHMBP2):c.548-13G>T rs1198884720 0.00001
NM_002180.3(IGHMBP2):c.585C>T (p.Ser195=) rs1442536361 0.00001
NM_002180.3(IGHMBP2):c.597G>A (p.Ala199=) rs780961121 0.00001
NM_002180.3(IGHMBP2):c.609G>A (p.Ala203=) rs761677597 0.00001
NM_002180.3(IGHMBP2):c.666G>A (p.Thr222=) rs755634860 0.00001
NM_002180.3(IGHMBP2):c.696G>T (p.Val232=) rs748899869 0.00001
NM_002180.3(IGHMBP2):c.6C>T (p.Ala2=) rs1168042239 0.00001
NM_002180.3(IGHMBP2):c.711+10G>C rs1484976321 0.00001
NM_002180.3(IGHMBP2):c.714T>C (p.Val238=) rs755582766 0.00001
NM_002180.3(IGHMBP2):c.891G>A (p.Arg297=) rs181492004 0.00001
NM_002180.3(IGHMBP2):c.954T>C (p.Asn318=) rs1482496537 0.00001
NM_003334.4(UBA1):c.1047C>T (p.Pro349=) rs782664927 0.00001
NM_003334.4(UBA1):c.1353T>C (p.Tyr451=) rs1488418187 0.00001
NM_003334.4(UBA1):c.1401C>G (p.Gly467=) rs782569910 0.00001
NM_003334.4(UBA1):c.147C>T (p.Asp49=) rs1556786556 0.00001
NM_003334.4(UBA1):c.1576-20G>A rs377335190 0.00001
NM_003334.4(UBA1):c.1710C>T (p.Gly570=) rs1556790843 0.00001
NM_003334.4(UBA1):c.1758C>T (p.Arg586=) rs782655127 0.00001
NM_003334.4(UBA1):c.1929C>T (p.His643=) rs782419696 0.00001
NM_003334.4(UBA1):c.2115C>T (p.Asp705=) rs1481710267 0.00001
NM_003334.4(UBA1):c.2136C>T (p.His712=) rs781845476 0.00001
NM_003334.4(UBA1):c.2187C>T (p.Phe729=) rs1480401128 0.00001
NM_003334.4(UBA1):c.2202C>A (p.Leu734=) rs1556793129 0.00001
NM_003334.4(UBA1):c.231A>G (p.Val77=) rs1556786690 0.00001
NM_003334.4(UBA1):c.2371C>T (p.Leu791=) rs1556793265 0.00001
NM_003334.4(UBA1):c.2412C>T (p.Gly804=) rs201456998 0.00001
NM_003334.4(UBA1):c.2554-6T>C rs370565575 0.00001
NM_003334.4(UBA1):c.2586C>T (p.Ile862=) rs150512668 0.00001
NM_003334.4(UBA1):c.2640G>C (p.Arg880=) rs1262504002 0.00001
NM_003334.4(UBA1):c.2688G>A (p.Thr896=) rs781811327 0.00001
NM_003334.4(UBA1):c.2763C>G (p.Ser921=) rs1317157419 0.00001
NM_003334.4(UBA1):c.2831G>A (p.Arg944His) rs782687555 0.00001
NM_003334.4(UBA1):c.303A>G (p.Leu101=) rs782052238 0.00001
NM_003334.4(UBA1):c.3060C>T (p.Ser1020=) rs782246207 0.00001
NM_003334.4(UBA1):c.3132C>T (p.Ser1044=) rs781808756 0.00001
NM_003334.4(UBA1):c.330T>G (p.Ala110=) rs781828321 0.00001
NM_003334.4(UBA1):c.360G>A (p.Glu120=) rs782436604 0.00001
NM_003334.4(UBA1):c.453C>T (p.Leu151=) rs782803598 0.00001
NM_003334.4(UBA1):c.465C>T (p.Phe155=) rs1556787010 0.00001
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln) rs1556787651 0.00001
NM_003334.4(UBA1):c.573G>A (p.Thr191=) rs1556787692 0.00001
NM_003334.4(UBA1):c.603C>T (p.Asp201=) rs782085880 0.00001
NM_003334.4(UBA1):c.663T>A (p.Val221=) rs782741702 0.00001
NM_003384.3(VRK1):c.1011C>A (p.Gly337=) rs547821991 0.00001
NM_003384.3(VRK1):c.1143G>A (p.Glu381=) rs745392801 0.00001
NM_003384.3(VRK1):c.144T>C (p.Phe48=) rs1887099492 0.00001
NM_003384.3(VRK1):c.264A>G (p.Gln88=) rs200368952 0.00001
NM_003384.3(VRK1):c.279A>T (p.Pro93=) rs765294511 0.00001
NM_003384.3(VRK1):c.286+18C>T rs370335226 0.00001
NM_003384.3(VRK1):c.345G>T (p.Gly115=) rs747216954 0.00001
NM_003384.3(VRK1):c.366T>C (p.Asn122=) rs781389131 0.00001
NM_003384.3(VRK1):c.484-4A>G rs572434615 0.00001
NM_003384.3(VRK1):c.507C>T (p.His169=) rs773548929 0.00001
NM_003384.3(VRK1):c.576+9A>G rs978347799 0.00001
NM_003384.3(VRK1):c.577-4A>G rs1194395636 0.00001
NM_003384.3(VRK1):c.588A>T (p.Val196=) rs1387075963 0.00001
NM_003384.3(VRK1):c.618A>G (p.Pro206=) rs773555796 0.00001
NM_003384.3(VRK1):c.639C>T (p.Tyr213=) rs1217274457 0.00001
NM_003384.3(VRK1):c.66A>G (p.Gln22=) rs146973955 0.00001
NM_003384.3(VRK1):c.699C>T (p.His233=) rs1372315924 0.00001
NM_003384.3(VRK1):c.709+10T>C rs1468277298 0.00001
NM_003384.3(VRK1):c.709+9G>A rs1202671679 0.00001
NM_003384.3(VRK1):c.710-14T>C rs1275418589 0.00001
NM_003384.3(VRK1):c.710-9C>A rs757724286 0.00001
NM_003384.3(VRK1):c.726T>C (p.Gly242=) rs562273268 0.00001
NM_003384.3(VRK1):c.72A>C (p.Ala24=) rs147698530 0.00001
NM_003384.3(VRK1):c.828T>C (p.Ile276=) rs1334577291 0.00001
NM_003384.3(VRK1):c.830+10A>G rs544437757 0.00001
NM_003384.3(VRK1):c.831-12A>G rs1555361641 0.00001
NM_003384.3(VRK1):c.831-18T>A rs746301651 0.00001
NM_003384.3(VRK1):c.846T>C (p.Ile282=) rs759546376 0.00001
NM_003384.3(VRK1):c.966C>T (p.Asp322=) rs1302769997 0.00001
NM_003384.3(VRK1):c.99A>C (p.Ala33=) rs1461516851 0.00001
NM_004082.5(DCTN1):c.1002G>A (p.Glu334=) rs757723673 0.00001
NM_004082.5(DCTN1):c.102G>A (p.Glu34=) rs1207116898 0.00001
NM_004082.5(DCTN1):c.1059C>T (p.Gly353=) rs771325809 0.00001
NM_004082.5(DCTN1):c.1155G>A (p.Lys385=) rs763048243 0.00001
NM_004082.5(DCTN1):c.1288-18A>G rs770601874 0.00001
NM_004082.5(DCTN1):c.1420C>T (p.Leu474=) rs139100051 0.00001
NM_004082.5(DCTN1):c.1479C>T (p.Gly493=) rs754282487 0.00001
NM_004082.5(DCTN1):c.1527G>A (p.Thr509=) rs777762235 0.00001
NM_004082.5(DCTN1):c.153G>A (p.Leu51=) rs765144648 0.00001
NM_004082.5(DCTN1):c.1585-10C>T rs1573159255 0.00001
NM_004082.5(DCTN1):c.1585-5C>G rs762445148 0.00001
NM_004082.5(DCTN1):c.1692C>T (p.Ala564=) rs886043620 0.00001
NM_004082.5(DCTN1):c.1701+15T>G rs375345080 0.00001
NM_004082.5(DCTN1):c.1702-8C>T rs1223678248 0.00001
NM_004082.5(DCTN1):c.1770C>T (p.Ala590=) rs373649455 0.00001
NM_004082.5(DCTN1):c.1977G>A (p.Ser659=) rs750553689 0.00001
NM_004082.5(DCTN1):c.2054T>G (p.Val685Gly) rs774272417 0.00001
NM_004082.5(DCTN1):c.2205T>G (p.Leu735=) rs773099597 0.00001
NM_004082.5(DCTN1):c.2254-10A>G rs954787850 0.00001
NM_004082.5(DCTN1):c.2254-5C>T rs746514094 0.00001
NM_004082.5(DCTN1):c.2269C>T (p.Leu757=) rs778632270 0.00001
NM_004082.5(DCTN1):c.228G>A (p.Arg76=) rs1480799137 0.00001
NM_004082.5(DCTN1):c.2466+16T>G rs892038213 0.00001
NM_004082.5(DCTN1):c.2467-14G>C rs369260205 0.00001
NM_004082.5(DCTN1):c.2467-16C>G rs984523563 0.00001
NM_004082.5(DCTN1):c.2467-6A>G rs150222185 0.00001
NM_004082.5(DCTN1):c.2467-8G>T rs779001284 0.00001
NM_004082.5(DCTN1):c.2478G>A (p.Thr826=) rs1473795697 0.00001
NM_004082.5(DCTN1):c.2499C>T (p.His833=) rs750731203 0.00001
NM_004082.5(DCTN1):c.2505G>A (p.Thr835=) rs767877041 0.00001
NM_004082.5(DCTN1):c.2511C>T (p.Val837=) rs377519506 0.00001
NM_004082.5(DCTN1):c.2523G>T (p.Leu841=) rs199501797 0.00001
NM_004082.5(DCTN1):c.2532G>C (p.Val844=) rs775122005 0.00001
NM_004082.5(DCTN1):c.258C>T (p.Gly86=) rs140054458 0.00001
NM_004082.5(DCTN1):c.2640C>T (p.Thr880=) rs1453065894 0.00001
NM_004082.5(DCTN1):c.2679C>T (p.Cys893=) rs1253918840 0.00001
NM_004082.5(DCTN1):c.2760+20G>T rs371973468 0.00001
NM_004082.5(DCTN1):c.2761-5C>T rs749706596 0.00001
NM_004082.5(DCTN1):c.279+10C>T rs1433805841 0.00001
NM_004082.5(DCTN1):c.2938T>C (p.Leu980=) rs370060938 0.00001
NM_004082.5(DCTN1):c.3009A>G (p.Ala1003=) rs781233291 0.00001
NM_004082.5(DCTN1):c.3029+20G>A rs1263362778 0.00001
NM_004082.5(DCTN1):c.3051T>C (p.Asp1017=) rs1573147984 0.00001
NM_004082.5(DCTN1):c.3069C>T (p.Ile1023=) rs780292959 0.00001
NM_004082.5(DCTN1):c.3123C>G (p.Ser1041=) rs769629500 0.00001
NM_004082.5(DCTN1):c.3196+8C>T rs1288930704 0.00001
NM_004082.5(DCTN1):c.3197-13A>G rs374049568 0.00001
NM_004082.5(DCTN1):c.3211+17G>A rs373651754 0.00001
NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=) rs769145486 0.00001
NM_004082.5(DCTN1):c.3309C>T (p.His1103=) rs756911555 0.00001
NM_004082.5(DCTN1):c.3312C>T (p.Ile1104=) rs777452161 0.00001
NM_004082.5(DCTN1):c.3441G>A (p.Ala1147=) rs760282295 0.00001
NM_004082.5(DCTN1):c.358+12C>T rs759791002 0.00001
NM_004082.5(DCTN1):c.358+15C>T rs753119702 0.00001
NM_004082.5(DCTN1):c.359-10C>T rs568747765 0.00001
NM_004082.5(DCTN1):c.3610-6C>T rs751068198 0.00001
NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=) rs1032786897 0.00001
NM_004082.5(DCTN1):c.3660C>G (p.Pro1220=) rs1346257186 0.00001
NM_004082.5(DCTN1):c.3666C>T (p.Asp1222=) rs1573138492 0.00001
NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=) rs886056328 0.00001
NM_004082.5(DCTN1):c.384T>C (p.Thr128=) rs751553167 0.00001
NM_004082.5(DCTN1):c.396G>C (p.Arg132=) rs1335450210 0.00001
NM_004082.5(DCTN1):c.426C>T (p.Ala142=) rs766656845 0.00001
NM_004082.5(DCTN1):c.42C>T (p.Ser14=) rs535554555 0.00001
NM_004082.5(DCTN1):c.459G>A (p.Thr153=) rs773422770 0.00001
NM_004082.5(DCTN1):c.585C>T (p.Ile195=) rs1016485773 0.00001
NM_004082.5(DCTN1):c.645+10G>C rs776017204 0.00001
NM_004082.5(DCTN1):c.646-15G>A rs201438504 0.00001
NM_004082.5(DCTN1):c.702G>T (p.Leu234=) rs758500443 0.00001
NM_004082.5(DCTN1):c.759C>T (p.Ile253=) rs1553465355 0.00001
NM_004082.5(DCTN1):c.81G>A (p.Leu27=) rs780626071 0.00001
NM_004082.5(DCTN1):c.843+9C>T rs1031141306 0.00001
NM_004082.5(DCTN1):c.90C>T (p.Gly30=) rs932576887 0.00001
NM_004738.5(VAPB):c.*4240G>C rs554043472 0.00001
NM_004738.5(VAPB):c.333G>A (p.Pro111=) rs762402998 0.00001
NM_004738.5(VAPB):c.348T>C (p.Asp116=) rs751762415 0.00001
NM_004738.5(VAPB):c.58+13G>A rs1987731552 0.00001
NM_004738.5(VAPB):c.58+9C>T rs1232943562 0.00001
NM_004738.5(VAPB):c.597G>A (p.Arg199=) rs748793394 0.00001
NM_004738.5(VAPB):c.699C>T (p.Ile233=) rs372088559 0.00001
NM_005866.4(SIGMAR1):c.147C>T (p.Tyr49=) rs1020552197 0.00001
NM_005866.4(SIGMAR1):c.152-6C>T rs772336092 0.00001
NM_005866.4(SIGMAR1):c.18C>T (p.Gly6=) rs1479520771 0.00001
NM_005866.4(SIGMAR1):c.195G>A (p.Leu65=) rs1193231930 0.00001
NM_005866.4(SIGMAR1):c.303C>T (p.Ser101=) rs59277791 0.00001
NM_005866.4(SIGMAR1):c.331T>C (p.Leu111=) rs1158511598 0.00001
NM_005866.4(SIGMAR1):c.366T>C (p.Ala122=) rs754723315 0.00001
NM_005866.4(SIGMAR1):c.445+13G>A rs1295625431 0.00001
NM_005866.4(SIGMAR1):c.453G>A (p.Thr151=) rs751571040 0.00001
NM_005866.4(SIGMAR1):c.639G>A (p.Glu213=) rs779179488 0.00001
NM_006308.3(HSPB3):c.144C>A (p.Thr48=) rs1318012497 0.00001
NM_006308.3(HSPB3):c.345C>T (p.Thr115=) rs751654650 0.00001
NM_006736.6(DNAJB2):c.*980C>T rs753824788 0.00001
NM_006736.6(DNAJB2):c.*981G>A rs1295474654 0.00001
NM_006736.6(DNAJB2):c.147G>A (p.Val49=) rs1213188397 0.00001
NM_006736.6(DNAJB2):c.156A>G (p.Ala52=) rs748638654 0.00001
NM_006736.6(DNAJB2):c.175+10G>A rs772494708 0.00001
NM_006736.6(DNAJB2):c.175+13G>T rs375470108 0.00001
NM_006736.6(DNAJB2):c.175+9C>T rs776887529 0.00001
NM_006736.6(DNAJB2):c.229+9A>C rs754628028 0.00001
NM_006736.6(DNAJB2):c.249A>G (p.Ala83=) rs576058376 0.00001
NM_006736.6(DNAJB2):c.297C>T (p.Pro99=) rs373432472 0.00001
NM_006736.6(DNAJB2):c.303G>A (p.Glu101=) rs376497742 0.00001
NM_006736.6(DNAJB2):c.353-4G>A rs368270286 0.00001
NM_006736.6(DNAJB2):c.385C>T (p.Arg129Trp) rs373229634 0.00001
NM_006736.6(DNAJB2):c.420C>T (p.Phe140=) rs929490670 0.00001
NM_006736.6(DNAJB2):c.429C>T (p.Ser143=) rs371047447 0.00001
NM_006736.6(DNAJB2):c.438G>C (p.Gly146=) rs763259212 0.00001
NM_006736.6(DNAJB2):c.441C>T (p.His147=) rs1346857510 0.00001
NM_006736.6(DNAJB2):c.446-17C>G rs760786001 0.00001
NM_006736.6(DNAJB2):c.620-22_620-20del rs1064795998 0.00001
NM_006736.6(DNAJB2):c.830G>A (p.Arg277Gln) rs778963579 0.00001
NM_016042.4(EXOSC3):c.325-6T>C rs375827861 0.00001
NM_016042.4(EXOSC3):c.336A>G (p.Val112=) rs1459576809 0.00001
NM_016042.4(EXOSC3):c.405G>T (p.Gly135=) rs1828647334 0.00001
NM_016042.4(EXOSC3):c.813A>G (p.Arg271=) rs373942170 0.00001
NM_020631.6(PLEKHG5):c.1020G>A (p.Ala340=) rs562623276 0.00001
NM_020631.6(PLEKHG5):c.1041G>A (p.Thr347=) rs779051638 0.00001
NM_020631.6(PLEKHG5):c.1068G>A (p.Arg356=) rs1272202008 0.00001
NM_020631.6(PLEKHG5):c.1081-19C>T rs1057524719 0.00001
NM_020631.6(PLEKHG5):c.1132-17C>T rs1424401681 0.00001
NM_020631.6(PLEKHG5):c.1132-8G>T rs1357497658 0.00001
NM_020631.6(PLEKHG5):c.1152C>T (p.Phe384=) rs775687640 0.00001
NM_020631.6(PLEKHG5):c.1227G>C (p.Ala409=) rs1004728643 0.00001
NM_020631.6(PLEKHG5):c.1230G>T (p.Arg410=) rs775775743 0.00001
NM_020631.6(PLEKHG5):c.1243C>T (p.Leu415=) rs771030645 0.00001
NM_020631.6(PLEKHG5):c.12T>C (p.Asp4=) rs772435791 0.00001
NM_020631.6(PLEKHG5):c.1371C>T (p.Asp457=) rs776561735 0.00001
NM_020631.6(PLEKHG5):c.1410A>G (p.Pro470=) rs200406088 0.00001
NM_020631.6(PLEKHG5):c.1428G>A (p.Lys476=) rs1243221708 0.00001
NM_020631.6(PLEKHG5):c.1443G>A (p.Leu481=) rs1175716993 0.00001
NM_020631.6(PLEKHG5):c.150-11C>A rs369136414 0.00001
NM_020631.6(PLEKHG5):c.150-13C>T rs373087396 0.00001
NM_020631.6(PLEKHG5):c.1506C>T (p.Thr502=) rs570632527 0.00001
NM_020631.6(PLEKHG5):c.1524G>A (p.Lys508=) rs777894074 0.00001
NM_020631.6(PLEKHG5):c.1575G>C (p.Val525=) rs1488054852 0.00001
NM_020631.6(PLEKHG5):c.1596G>A (p.Arg532=) rs777519794 0.00001
NM_020631.6(PLEKHG5):c.1647G>A (p.Glu549=) rs770781624 0.00001
NM_020631.6(PLEKHG5):c.168C>T (p.Gly56=) rs1366828227 0.00001
NM_020631.6(PLEKHG5):c.1707C>T (p.Asp569=) rs1033319065 0.00001
NM_020631.6(PLEKHG5):c.1836G>A (p.Leu612=) rs1026753861 0.00001
NM_020631.6(PLEKHG5):c.1890C>T (p.Pro630=) rs1280465351 0.00001
NM_020631.6(PLEKHG5):c.1929C>T (p.Asp643=) rs1644505211 0.00001
NM_020631.6(PLEKHG5):c.1933+17C>T rs766391240 0.00001
NM_020631.6(PLEKHG5):c.1933+18C>T rs369940156 0.00001
NM_020631.6(PLEKHG5):c.1935G>A (p.Gly645=) rs147140763 0.00001
NM_020631.6(PLEKHG5):c.1980G>A (p.Gly660=) rs751242417 0.00001
NM_020631.6(PLEKHG5):c.2049+10G>A rs1478987550 0.00001
NM_020631.6(PLEKHG5):c.210+20C>T rs777308688 0.00001
NM_020631.6(PLEKHG5):c.2142A>G (p.Glu714=) rs750902394 0.00001
NM_020631.6(PLEKHG5):c.2235C>T (p.Pro745=) rs1323858843 0.00001
NM_020631.6(PLEKHG5):c.2250-5C>T rs746215440 0.00001
NM_020631.6(PLEKHG5):c.2268G>A (p.Thr756=) rs757831916 0.00001
NM_020631.6(PLEKHG5):c.2316C>T (p.Ser772=) rs1342219532 0.00001
NM_020631.6(PLEKHG5):c.2325C>T (p.Phe775=) rs1644465541 0.00001
NM_020631.6(PLEKHG5):c.2565G>A (p.Ser855=) rs372308060 0.00001
NM_020631.6(PLEKHG5):c.2772G>A (p.Gly924=) rs1644444867 0.00001
NM_020631.6(PLEKHG5):c.2796C>T (p.Ala932=) rs1315817273 0.00001
NM_020631.6(PLEKHG5):c.2826C>T (p.Val942=) rs749891873 0.00001
NM_020631.6(PLEKHG5):c.2841G>A (p.Gly947=) rs753283144 0.00001
NM_020631.6(PLEKHG5):c.2892C>G (p.Ala964=) rs1388065890 0.00001
NM_020631.6(PLEKHG5):c.2916C>G (p.Pro972=) rs923660925 0.00001
NM_020631.6(PLEKHG5):c.2952C>T (p.Thr984=) rs886046497 0.00001
NM_020631.6(PLEKHG5):c.474G>A (p.Glu158=) rs751440606 0.00001
NM_020631.6(PLEKHG5):c.621G>A (p.Ser207=) rs973366523 0.00001
NM_020631.6(PLEKHG5):c.63C>T (p.Asn21=) rs138432284 0.00001
NM_020631.6(PLEKHG5):c.648C>T (p.Pro216=) rs1030435109 0.00001
NM_020631.6(PLEKHG5):c.663C>T (p.Pro221=) rs577756377 0.00001
NM_020631.6(PLEKHG5):c.702C>T (p.Gly234=) rs904191245 0.00001
NM_020631.6(PLEKHG5):c.705C>T (p.Ser235=) rs573567464 0.00001
NM_020631.6(PLEKHG5):c.765C>T (p.Ser255=) rs566596803 0.00001
NM_020631.6(PLEKHG5):c.777C>T (p.Ser259=) rs373244537 0.00001
NM_020631.6(PLEKHG5):c.795+12C>T rs754372537 0.00001
NM_020631.6(PLEKHG5):c.984+12C>T rs1322343243 0.00001
NM_020631.6(PLEKHG5):c.984+9G>A rs746193927 0.00001
NM_020631.6(PLEKHG5):c.985-6C>T rs1371350296 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344 0.00001
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=) rs545589086 0.00001
NM_021815.5(SLC5A7):c.1026T>C (p.Ala342=) rs745405514 0.00001
NM_021815.5(SLC5A7):c.1242C>T (p.Tyr414=) rs771422735 0.00001
NM_021815.5(SLC5A7):c.1302G>C (p.Gly434=) rs767552380 0.00001
NM_021815.5(SLC5A7):c.1305C>T (p.Ala435=) rs750258339 0.00001
NM_021815.5(SLC5A7):c.1360C>T (p.Leu454=) rs868433113 0.00001
NM_021815.5(SLC5A7):c.1362G>A (p.Leu454=) rs561099749 0.00001
NM_021815.5(SLC5A7):c.138C>T (p.Gly46=) rs776077643 0.00001
NM_021815.5(SLC5A7):c.1602T>C (p.Asn534=) rs772245675 0.00001
NM_021815.5(SLC5A7):c.1716G>T (p.Gly572=) rs1025757053 0.00001
NM_021815.5(SLC5A7):c.192A>T (p.Gly64=) rs773790295 0.00001
NM_021815.5(SLC5A7):c.207T>C (p.Asn69=) rs1677475501 0.00001
NM_021815.5(SLC5A7):c.292+11G>A rs777715689 0.00001
NM_021815.5(SLC5A7):c.321T>C (p.Arg107=) rs759885480 0.00001
NM_021815.5(SLC5A7):c.393T>C (p.Phe131=) rs1425880594 0.00001
NM_021815.5(SLC5A7):c.449-14C>T rs1168011809 0.00001
NM_021815.5(SLC5A7):c.504T>C (p.Ser168=) rs752342608 0.00001
NM_021815.5(SLC5A7):c.534G>A (p.Val178=) rs1573601177 0.00001
NM_021815.5(SLC5A7):c.645C>A (p.Ile215=) rs1392135172 0.00001
NM_021815.5(SLC5A7):c.711C>G (p.Val237=) rs1305450818 0.00001
NM_021815.5(SLC5A7):c.729T>C (p.Ser243=) rs972194774 0.00001
NM_021815.5(SLC5A7):c.741+11C>G rs781484974 0.00001
NM_021815.5(SLC5A7):c.741+12T>C rs745918946 0.00001
NM_021815.5(SLC5A7):c.742-19C>A rs758950508 0.00001
NM_021815.5(SLC5A7):c.742-7C>T rs367795192 0.00001
NM_021815.5(SLC5A7):c.765A>G (p.Gln255=) rs1354576821 0.00001
NM_021815.5(SLC5A7):c.792T>A (p.Ser264=) rs199981715 0.00001
NM_021815.5(SLC5A7):c.837C>T (p.Phe279=) rs369809428 0.00001
NM_021815.5(SLC5A7):c.84A>G (p.Arg28=) rs202046349 0.00001
NM_021815.5(SLC5A7):c.864C>G (p.Ala288=) rs1380320655 0.00001
NM_021815.5(SLC5A7):c.978T>C (p.Tyr326=) rs542281272 0.00001
NM_205836.3(FBXO38):c.1155T>C (p.Gly385=) rs1581256078 0.00001
NM_205836.3(FBXO38):c.1170A>G (p.Ile390Met) rs751242312 0.00001
NM_205836.3(FBXO38):c.1191A>G (p.Glu397=) rs764041718 0.00001
NM_205836.3(FBXO38):c.1265-7T>C rs888571837 0.00001
NM_205836.3(FBXO38):c.1305A>T (p.Val435=) rs142263196 0.00001
NM_205836.3(FBXO38):c.1308G>A (p.Arg436=) rs750331046 0.00001
NM_205836.3(FBXO38):c.1378C>T (p.Leu460=) rs199662567 0.00001
NM_205836.3(FBXO38):c.1467T>C (p.Val489=) rs759754735 0.00001
NM_205836.3(FBXO38):c.1563G>A (p.Glu521=) rs759678292 0.00001
NM_205836.3(FBXO38):c.1618+8A>G rs958930668 0.00001
NM_205836.3(FBXO38):c.1705A>G (p.Ile569Val) rs772345898 0.00001
NM_205836.3(FBXO38):c.1743C>A (p.Pro581=) rs1408503689 0.00001
NM_205836.3(FBXO38):c.1919-19C>T rs746868253 0.00001
NM_205836.3(FBXO38):c.192G>A (p.Val64=) rs763779865 0.00001
NM_205836.3(FBXO38):c.2283G>A (p.Glu761=) rs779798577 0.00001
NM_205836.3(FBXO38):c.2343C>T (p.Pro781=) rs764011030 0.00001
NM_205836.3(FBXO38):c.2715T>C (p.Thr905=) rs748376542 0.00001
NM_205836.3(FBXO38):c.2755-8G>A rs1468803464 0.00001
NM_205836.3(FBXO38):c.291A>G (p.Leu97=) rs1339219934 0.00001
NM_205836.3(FBXO38):c.2973A>G (p.Leu991=) rs759970509 0.00001
NM_205836.3(FBXO38):c.3025-11G>A rs372858978 0.00001
NM_205836.3(FBXO38):c.3025-16A>G rs371855987 0.00001
NM_205836.3(FBXO38):c.3274+14A>G rs748557217 0.00001
NM_205836.3(FBXO38):c.3275-14del rs766338496 0.00001
NM_205836.3(FBXO38):c.3378C>T (p.Asp1126=) rs759126729 0.00001
NM_205836.3(FBXO38):c.3456G>A (p.Glu1152=) rs1314390167 0.00001
NM_205836.3(FBXO38):c.438T>C (p.Thr146=) rs771410003 0.00001
NM_205836.3(FBXO38):c.45T>C (p.Asn15=) rs1470905234 0.00001
NM_205836.3(FBXO38):c.465T>C (p.Ile155=) rs1752206103 0.00001
NM_205836.3(FBXO38):c.792G>A (p.Leu264=) rs1422318649 0.00001
NM_205836.3(FBXO38):c.869-8G>A rs777036251 0.00001
NM_205836.3(FBXO38):c.869-9C>T rs768616588 0.00001
NM_205836.3(FBXO38):c.958C>T (p.Arg320Cys) rs779869264 0.00001
NM_207346.3(TSEN54):c.369+5G>A rs756343304 0.00001
NM_213720.3(CHCHD10):c.189C>T (p.His63=) rs202148090 0.00001
NM_213720.3(CHCHD10):c.192C>T (p.Val64=) rs1392838932 0.00001
NM_213720.3(CHCHD10):c.261+9C>A rs746028073 0.00001
NM_213720.3(CHCHD10):c.306C>T (p.Cys102=) rs527737360 0.00001
NM_213720.3(CHCHD10):c.372C>T (p.Gly124=) rs372902325 0.00001
NM_213720.3(CHCHD10):c.409+11G>A rs745652443 0.00001
NM_213720.3(CHCHD10):c.42-8C>T rs1191330602 0.00001
NC_000005.9:g.(?_70219768)_70249839dup
NC_000005.9:g.(?_70247739)_(70247821_?)dup
NC_000005.9:g.(?_70247758)_(70247828_?)dup
NM_000052.7(ATP7A):c.1003A>G (p.Ile335Val)
NM_000052.7(ATP7A):c.1008G>A (p.Glu336=)
NM_000052.7(ATP7A):c.1017A>T (p.Ser339=)
NM_000052.7(ATP7A):c.1023G>A (p.Gly341=) rs374656309
NM_000052.7(ATP7A):c.1029T>C (p.Tyr343=)
NM_000052.7(ATP7A):c.1032A>G (p.Arg344=)
NM_000052.7(ATP7A):c.1050A>G (p.Glu350=)
NM_000052.7(ATP7A):c.105T>C (p.Gly35=)
NM_000052.7(ATP7A):c.1060A>G (p.Thr354Ala) rs1557231859
NM_000052.7(ATP7A):c.1062C>A (p.Thr354=)
NM_000052.7(ATP7A):c.1069T>C (p.Ser357Pro)
NM_000052.7(ATP7A):c.1074C>T (p.Pro358=) rs2149083275
NM_000052.7(ATP7A):c.1080C>T (p.Ser360=)
NM_000052.7(ATP7A):c.108G>A (p.Val36=) rs2149073882
NM_000052.7(ATP7A):c.1108G>A (p.Val370Ile)
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala) rs782616685
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys) rs2077659011
NM_000052.7(ATP7A):c.1128A>G (p.Thr376=)
NM_000052.7(ATP7A):c.1146C>T (p.Asn382=) rs2149083320
NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val)
NM_000052.7(ATP7A):c.1151A>G (p.Asp384Gly)
NM_000052.7(ATP7A):c.1170C>T (p.Ser390=) rs2149083338
NM_000052.7(ATP7A):c.1176G>A (p.Val392=) rs2149083343
NM_000052.7(ATP7A):c.117T>A (p.Ile39=)
NM_000052.7(ATP7A):c.1182T>C (p.Ser394=) rs2149083355
NM_000052.7(ATP7A):c.1183A>G (p.Ile395Val)
NM_000052.7(ATP7A):c.1184T>C (p.Ile395Thr)
NM_000052.7(ATP7A):c.1191T>A (p.Gly397=) rs2149083372
NM_000052.7(ATP7A):c.120+14T>C
NM_000052.7(ATP7A):c.120+15G>A
NM_000052.7(ATP7A):c.120+20C>T
NM_000052.7(ATP7A):c.120+7T>C rs2149073895
NM_000052.7(ATP7A):c.120+8A>T
NM_000052.7(ATP7A):c.120+9C>T
NM_000052.7(ATP7A):c.1200A>G (p.Ser400=)
NM_000052.7(ATP7A):c.121-12T>G
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1221C>T (p.Ser407=)
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=) rs781846400
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)
NM_000052.7(ATP7A):c.1257T>G (p.Val419=)
NM_000052.7(ATP7A):c.126A>G (p.Ser42=) rs2149082519
NM_000052.7(ATP7A):c.127C>T (p.Leu43=)
NM_000052.7(ATP7A):c.1302A>G (p.Ala434=)
NM_000052.7(ATP7A):c.1303A>G (p.Ile435Val)
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=) rs2149083467
NM_000052.7(ATP7A):c.1336+10A>C
NM_000052.7(ATP7A):c.1336+10A>G
NM_000052.7(ATP7A):c.1336+7dup
NM_000052.7(ATP7A):c.1336+9C>A
NM_000052.7(ATP7A):c.1337-16T>A
NM_000052.7(ATP7A):c.1337-17C>G
NM_000052.7(ATP7A):c.1340C>T (p.Thr447Met)
NM_000052.7(ATP7A):c.1344T>C (p.Asn448=) rs2149087769
NM_000052.7(ATP7A):c.1349C>T (p.Pro450Leu)
NM_000052.7(ATP7A):c.1350G>T (p.Pro450=) rs782421584
NM_000052.7(ATP7A):c.1364C>T (p.Ala455Val)
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=) rs2077718812
NM_000052.7(ATP7A):c.1395T>A (p.Thr465=)
NM_000052.7(ATP7A):c.1400C>T (p.Thr467Ile)
NM_000052.7(ATP7A):c.1416T>C (p.Thr472=) rs2149087828
NM_000052.7(ATP7A):c.1419A>G (p.Lys473=)
NM_000052.7(ATP7A):c.1422G>A (p.Gly474=)
NM_000052.7(ATP7A):c.1431A>G (p.Pro477=) rs2077719509
NM_000052.7(ATP7A):c.1443G>A (p.Lys481=)
NM_000052.7(ATP7A):c.1461A>C (p.Ser487=) rs2149087866
NM_000052.7(ATP7A):c.1464T>C (p.Ser488=)
NM_000052.7(ATP7A):c.1473C>T (p.Tyr491=)
NM_000052.7(ATP7A):c.147T>C (p.Thr49=)
NM_000052.7(ATP7A):c.1486G>A (p.Gly496Ser)
NM_000052.7(ATP7A):c.1493C>G (p.Thr498Ser)
NM_000052.7(ATP7A):c.1500T>A (p.Ala500=)
NM_000052.7(ATP7A):c.1500T>G (p.Ala500=)
NM_000052.7(ATP7A):c.1504T>C (p.Cys502Arg)
NM_000052.7(ATP7A):c.1506T>C (p.Cys502=) rs2149087893
NM_000052.7(ATP7A):c.150T>A (p.Ile50=) rs2149082532
NM_000052.7(ATP7A):c.1524G>A (p.Arg508=)
NM_000052.7(ATP7A):c.1536G>T (p.Arg512=) rs1557232820
NM_000052.7(ATP7A):c.1543+15A>G
NM_000052.7(ATP7A):c.1543+17G>A rs2149087916
NM_000052.7(ATP7A):c.1543+18C>T
NM_000052.7(ATP7A):c.1543+8A>C
NM_000052.7(ATP7A):c.1544-16T>G
NM_000052.7(ATP7A):c.1544-7C>T rs2149090207
NM_000052.7(ATP7A):c.1555A>G (p.Ile519Val)
NM_000052.7(ATP7A):c.1566C>T (p.Ala522=) rs2149090230
NM_000052.7(ATP7A):c.156T>C (p.Tyr52=)
NM_000052.7(ATP7A):c.1581G>A (p.Lys527=) rs2149090234
NM_000052.7(ATP7A):c.1592G>A (p.Arg531Lys)
NM_000052.7(ATP7A):c.159C>T (p.Asp53=) rs2149082542
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=)
NM_000052.7(ATP7A):c.1610T>C (p.Ile537Thr)
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
NM_000052.7(ATP7A):c.1629A>G (p.Ala543=)
NM_000052.7(ATP7A):c.1638C>A (p.Ile546=)
NM_000052.7(ATP7A):c.1659C>T (p.Ala553=)
NM_000052.7(ATP7A):c.1662T>G (p.Thr554=) rs2149090265
NM_000052.7(ATP7A):c.1669G>C (p.Glu557Gln)
NM_000052.7(ATP7A):c.166C>T (p.Leu56=) rs2149082544
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr) rs1603383823
NM_000052.7(ATP7A):c.1688A>T (p.Asp563Val) rs782561107
NM_000052.7(ATP7A):c.1695T>C (p.Val565=) rs2149090293
NM_000052.7(ATP7A):c.1701A>G (p.Glu567=) rs2149090295
NM_000052.7(ATP7A):c.1707+12T>G
NM_000052.7(ATP7A):c.1707+17G>A
NM_000052.7(ATP7A):c.1707+19G>A
NM_000052.7(ATP7A):c.1707+9G>C rs2149090300
NM_000052.7(ATP7A):c.1708-16G>A
NM_000052.7(ATP7A):c.1708-4dup
NM_000052.7(ATP7A):c.1708-5A>C rs782104249
NM_000052.7(ATP7A):c.1708-5A>G
NM_000052.7(ATP7A):c.1719G>A (p.Met573Ile)
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg) rs782076879
NM_000052.7(ATP7A):c.1731C>T (p.Ser577=) rs2149093501
NM_000052.7(ATP7A):c.1755T>C (p.Ser585=)
NM_000052.7(ATP7A):c.1761A>G (p.Thr587=)
NM_000052.7(ATP7A):c.1764A>G (p.Lys588=)
NM_000052.7(ATP7A):c.1767C>T (p.His589=)
NM_000052.7(ATP7A):c.1773G>C (p.Gly591=) rs2149093521
NM_000052.7(ATP7A):c.1779A>G (p.Leu593=) rs1557234093
NM_000052.7(ATP7A):c.1782C>T (p.Tyr594=)
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1797G>A (p.Leu599=)
NM_000052.7(ATP7A):c.1803C>A (p.Thr601=)
NM_000052.7(ATP7A):c.180G>A (p.Lys60=)
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser) rs1569549840
NM_000052.7(ATP7A):c.1843C>G (p.Pro615Ala)
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)
NM_000052.7(ATP7A):c.1869+12G>T
NM_000052.7(ATP7A):c.1869+17del
NM_000052.7(ATP7A):c.1869+7G>A rs2149093596
NM_000052.7(ATP7A):c.1869+7G>T rs2149093596
NM_000052.7(ATP7A):c.1869+9C>G rs2149093599
NM_000052.7(ATP7A):c.186A>G (p.Leu62=) rs2149082562
NM_000052.7(ATP7A):c.1870-14A>G
NM_000052.7(ATP7A):c.1870-18T>C
NM_000052.7(ATP7A):c.1870-7T>G
NM_000052.7(ATP7A):c.1873T>C (p.Leu625=) rs2149094927
NM_000052.7(ATP7A):c.1896C>G (p.Val632=) rs2149094955
NM_000052.7(ATP7A):c.1899G>A (p.Lys633=)
NM_000052.7(ATP7A):c.189G>A (p.Gln63=)
NM_000052.7(ATP7A):c.1904A>C (p.Asp635Ala)
NM_000052.7(ATP7A):c.1908G>A (p.Arg636=)
NM_000052.7(ATP7A):c.1908G>T (p.Arg636=)
NM_000052.7(ATP7A):c.1915A>G (p.Ser639Gly)
NM_000052.7(ATP7A):c.1920C>T (p.His640=) rs2149094980
NM_000052.7(ATP7A):c.1926T>A (p.Asp642Glu)
NM_000052.7(ATP7A):c.1932A>G (p.Lys644=)
NM_000052.7(ATP7A):c.1946+10T>G rs2149095008
NM_000052.7(ATP7A):c.1946+12G>A
NM_000052.7(ATP7A):c.1946+12G>C
NM_000052.7(ATP7A):c.1946+15G>C
NM_000052.7(ATP7A):c.1946+16T>G
NM_000052.7(ATP7A):c.1947-15T>C
NM_000052.7(ATP7A):c.1947-16A>C
NM_000052.7(ATP7A):c.1947-16_1947-14del rs2077824641
NM_000052.7(ATP7A):c.1947-16del rs2149095131
NM_000052.7(ATP7A):c.1947-17T>A
NM_000052.7(ATP7A):c.1947-18T>C
NM_000052.7(ATP7A):c.1947-19T>C
NM_000052.7(ATP7A):c.1947-7A>C
NM_000052.7(ATP7A):c.1947-9C>T rs2077824790
NM_000052.7(ATP7A):c.1956G>A (p.Arg652=) rs2077825077
NM_000052.7(ATP7A):c.1990G>C (p.Val664Leu)
NM_000052.7(ATP7A):c.1992A>G (p.Val664=)
NM_000052.7(ATP7A):c.19G>A (p.Val7Met)
NM_000052.7(ATP7A):c.2001G>A (p.Leu667=) rs2077825500
NM_000052.7(ATP7A):c.2001G>C (p.Leu667=) rs2077825500
NM_000052.7(ATP7A):c.2010T>C (p.Tyr670=) rs2149095200
NM_000052.7(ATP7A):c.2013G>T (p.Met671Ile)
NM_000052.7(ATP7A):c.2028C>T (p.His676=) rs2149095212
NM_000052.7(ATP7A):c.2040T>C (p.Thr680=) rs2077825942
NM_000052.7(ATP7A):c.2052T>C (p.Asn684=)
NM_000052.7(ATP7A):c.2064T>C (p.Ser688=) rs2149095237
NM_000052.7(ATP7A):c.2094T>C (p.Ser698=) rs2077826356
NM_000052.7(ATP7A):c.2096T>A (p.Met699Lys) rs2149095258
NM_000052.7(ATP7A):c.2101C>T (p.Leu701=)
NM_000052.7(ATP7A):c.210C>T (p.Gly70=)
NM_000052.7(ATP7A):c.2127G>A (p.Leu709=)
NM_000052.7(ATP7A):c.2142G>C (p.Leu714Phe)
NM_000052.7(ATP7A):c.2143C>T (p.Leu715=) rs2077826844
NM_000052.7(ATP7A):c.2145G>A (p.Leu715=) rs2149095287
NM_000052.7(ATP7A):c.2154A>G (p.Leu718=)
NM_000052.7(ATP7A):c.2160T>C (p.Cys720=) rs797045346
NM_000052.7(ATP7A):c.2166T>A (p.Pro722=)
NM_000052.7(ATP7A):c.216T>C (p.Asp72=)
NM_000052.7(ATP7A):c.2172+12G>C rs1557234548
NM_000052.7(ATP7A):c.2172+13T>C
NM_000052.7(ATP7A):c.2172+8A>C rs2149095311
NM_000052.7(ATP7A):c.2173-15A>T
NM_000052.7(ATP7A):c.2173-4G>T
NM_000052.7(ATP7A):c.2193C>T (p.Phe731=)
NM_000052.7(ATP7A):c.2196C>T (p.Tyr732=)
NM_000052.7(ATP7A):c.21G>C (p.Val7=) rs2149073808
NM_000052.7(ATP7A):c.2200C>A (p.Gln734Lys)
NM_000052.7(ATP7A):c.2205T>A (p.Ala735=)
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.7(ATP7A):c.2214A>G (p.Ala738=)
NM_000052.7(ATP7A):c.222T>C (p.Val74=)
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
NM_000052.7(ATP7A):c.2244A>G (p.Val748=) rs2149095993
NM_000052.7(ATP7A):c.2247G>A (p.Leu749=)
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
NM_000052.7(ATP7A):c.2253G>T (p.Val751=)
NM_000052.7(ATP7A):c.2262C>T (p.Thr754=)
NM_000052.7(ATP7A):c.2265C>T (p.Thr755=) rs2149096003
NM_000052.7(ATP7A):c.2277C>T (p.Ala759=) rs1473914623
NM_000052.7(ATP7A):c.2304A>G (p.Ala768=)
NM_000052.7(ATP7A):c.2319C>A (p.Ala773=) rs2149096036
NM_000052.7(ATP7A):c.2322A>G (p.Lys774=) rs2149096038
NM_000052.7(ATP7A):c.2337T>A (p.Thr779=)
NM_000052.7(ATP7A):c.2346C>T (p.Asp782=)
NM_000052.7(ATP7A):c.2349A>G (p.Thr783=)
NM_000052.7(ATP7A):c.2352C>T (p.Pro784=)
NM_000052.7(ATP7A):c.2355T>A (p.Pro785=)
NM_000052.7(ATP7A):c.2359C>T (p.Leu787=) rs2149096056
NM_000052.7(ATP7A):c.2361G>A (p.Leu787=) rs2149096057
NM_000052.7(ATP7A):c.2371A>G (p.Ile791Val)
NM_000052.7(ATP7A):c.2376A>G (p.Ala792=)
NM_000052.7(ATP7A):c.2376A>T (p.Ala792=) rs1208805004
NM_000052.7(ATP7A):c.237C>T (p.Asp79=)
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=) rs1603385697
NM_000052.7(ATP7A):c.2401G>A (p.Ala801Thr)
NM_000052.7(ATP7A):c.2406+12A>C
NM_000052.7(ATP7A):c.2406+14G>A
NM_000052.7(ATP7A):c.2406+14G>T
NM_000052.7(ATP7A):c.2406+16G>A
NM_000052.7(ATP7A):c.2406+16G>T
NM_000052.7(ATP7A):c.2406+16_2406+18del rs782017566
NM_000052.7(ATP7A):c.2406+19A>T
NM_000052.7(ATP7A):c.2407-19T>A
NM_000052.7(ATP7A):c.2407-19TGTT[3]
NM_000052.7(ATP7A):c.2407-4A>G rs2149096806
NM_000052.7(ATP7A):c.2407-4A>T rs2149096806
NM_000052.7(ATP7A):c.2415A>C (p.Thr805=)
NM_000052.7(ATP7A):c.2433G>A (p.Lys811=)
NM_000052.7(ATP7A):c.2445A>G (p.Leu815=) rs782694822
NM_000052.7(ATP7A):c.2453C>T (p.Thr818Ile)
NM_000052.7(ATP7A):c.2454A>C (p.Thr818=) rs2149096833
NM_000052.7(ATP7A):c.2454A>G (p.Thr818=)
NM_000052.7(ATP7A):c.2460A>C (p.Ala820=)
NM_000052.7(ATP7A):c.2460A>T (p.Ala820=) rs2149096836
NM_000052.7(ATP7A):c.2463T>C (p.Thr821=) rs2149096842
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)
NM_000052.7(ATP7A):c.2472T>G (p.Thr824=)
NM_000052.7(ATP7A):c.2473C>T (p.Leu825Phe)
NM_000052.7(ATP7A):c.2488A>G (p.Ile830Val)
NM_000052.7(ATP7A):c.2492T>A (p.Leu831His)
NM_000052.7(ATP7A):c.2498+16C>G
NM_000052.7(ATP7A):c.2498+18T>C
NM_000052.7(ATP7A):c.2499-10T>C rs2149097330
NM_000052.7(ATP7A):c.2499-11C>A
NM_000052.7(ATP7A):c.2499-12A>T rs2149097328
NM_000052.7(ATP7A):c.2499-17T>C
NM_000052.7(ATP7A):c.2499-18A>G
NM_000052.7(ATP7A):c.2499-20T>C
NM_000052.7(ATP7A):c.2499-7T>A
NM_000052.7(ATP7A):c.2526A>G (p.Val842=)
NM_000052.7(ATP7A):c.2528A>G (p.Gln843Arg)
NM_000052.7(ATP7A):c.2538T>C (p.Asp846=)
NM_000052.7(ATP7A):c.2559A>C (p.Gly853=)
NM_000052.7(ATP7A):c.2574G>A (p.Val858=)
NM_000052.7(ATP7A):c.2580T>A (p.Gly860=) rs2149097387
NM_000052.7(ATP7A):c.2586T>G (p.Val862=) rs2149097395
NM_000052.7(ATP7A):c.2596C>T (p.His866Tyr)
NM_000052.7(ATP7A):c.260C>T (p.Thr87Ile) rs782769542
NM_000052.7(ATP7A):c.261C>G (p.Thr87=) rs2149082604
NM_000052.7(ATP7A):c.2626+11T>C
NM_000052.7(ATP7A):c.2626+11T>G rs2077859760
NM_000052.7(ATP7A):c.2626+12C>G
NM_000052.7(ATP7A):c.2626+13A>G
NM_000052.7(ATP7A):c.2626+16G>A rs2149097436
NM_000052.7(ATP7A):c.2626+16G>C
NM_000052.7(ATP7A):c.2626+17G>C
NM_000052.7(ATP7A):c.2626+18A>G
NM_000052.7(ATP7A):c.2626+19T>G
NM_000052.7(ATP7A):c.2626+8C>T rs2149097424
NM_000052.7(ATP7A):c.2627-12C>T
NM_000052.7(ATP7A):c.2627-13A>T
NM_000052.7(ATP7A):c.2627-16T>G
NM_000052.7(ATP7A):c.2627-19A>G
NM_000052.7(ATP7A):c.2627-19A>T
NM_000052.7(ATP7A):c.2627-7C>T rs1603386991
NM_000052.7(ATP7A):c.2627-8C>G
NM_000052.7(ATP7A):c.2628G>A (p.Gly876=)
NM_000052.7(ATP7A):c.2646T>G (p.Ala882=)
NM_000052.7(ATP7A):c.2650A>G (p.Lys884Glu)
NM_000052.7(ATP7A):c.2655T>C (p.Pro885=) rs781976106
NM_000052.7(ATP7A):c.2661C>T (p.Ser887=) rs2149099638
NM_000052.7(ATP7A):c.2679C>G (p.Ser893=)
NM_000052.7(ATP7A):c.2694G>A (p.Gly898=) rs2149099672
NM_000052.7(ATP7A):c.2698C>T (p.Leu900=) rs2149099676
NM_000052.7(ATP7A):c.2704A>G (p.Ile902Val)
NM_000052.7(ATP7A):c.2712A>T (p.Ala904=) rs1396353749
NM_000052.7(ATP7A):c.2715A>T (p.Thr905=) rs1193758510
NM_000052.7(ATP7A):c.2716C>T (p.His906Tyr)
NM_000052.7(ATP7A):c.2734A>G (p.Thr912Ala)
NM_000052.7(ATP7A):c.2736C>A (p.Thr912=) rs2149099708
NM_000052.7(ATP7A):c.2775A>G (p.Thr925=) rs1603387045
NM_000052.7(ATP7A):c.2781+14C>T
NM_000052.7(ATP7A):c.2781+17G>C
NM_000052.7(ATP7A):c.2781+8A>T rs2149099742
NM_000052.7(ATP7A):c.2782-11T>C
NM_000052.7(ATP7A):c.2782-13T>C
NM_000052.7(ATP7A):c.2782-14A>G
NM_000052.7(ATP7A):c.2782-14del
NM_000052.7(ATP7A):c.2782-4C>T
NM_000052.7(ATP7A):c.2782-6T>C
NM_000052.7(ATP7A):c.2782-8A>C rs2149100096
NM_000052.7(ATP7A):c.2782-9T>C
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg) rs539177302
NM_000052.7(ATP7A):c.2790C>A (p.Ile930=) rs2149100114
NM_000052.7(ATP7A):c.2808A>G (p.Lys936=) rs2149100126
NM_000052.7(ATP7A):c.2814T>C (p.Ser938=)
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
NM_000052.7(ATP7A):c.2849T>C (p.Ile950Thr)
NM_000052.7(ATP7A):c.2859C>G (p.Leu953=)
NM_000052.7(ATP7A):c.2874A>C (p.Val958=)
NM_000052.7(ATP7A):c.2875A>G (p.Ile959Val)
NM_000052.7(ATP7A):c.2887A>G (p.Asn963Asp)
NM_000052.7(ATP7A):c.2898T>C (p.Ile966=)
NM_000052.7(ATP7A):c.2916+11T>G
NM_000052.7(ATP7A):c.2916+19C>T
NM_000052.7(ATP7A):c.2917-13C>A rs1343084607
NM_000052.7(ATP7A):c.2917-13C>T
NM_000052.7(ATP7A):c.2917-14C>G
NM_000052.7(ATP7A):c.2917-14C>T
NM_000052.7(ATP7A):c.2917-15G>T
NM_000052.7(ATP7A):c.2917-16T>C
NM_000052.7(ATP7A):c.2917-19T>G
NM_000052.7(ATP7A):c.2917-6C>T
NM_000052.7(ATP7A):c.2919C>G (p.Gly973=) rs1557236690
NM_000052.7(ATP7A):c.2933T>A (p.Ile978Asn)
NM_000052.7(ATP7A):c.2938C>A (p.Arg980=) rs72554649
NM_000052.7(ATP7A):c.2949G>A (p.Thr983=) rs782757659
NM_000052.7(ATP7A):c.2949G>C (p.Thr983=)
NM_000052.7(ATP7A):c.2949G>T (p.Thr983=) rs782757659
NM_000052.7(ATP7A):c.2967C>T (p.Phe989=) rs2077967350
NM_000052.7(ATP7A):c.297A>C (p.Pro99=)
NM_000052.7(ATP7A):c.297A>G (p.Pro99=)
NM_000052.7(ATP7A):c.2986C>T (p.Leu996=)
NM_000052.7(ATP7A):c.3009A>C (p.Ser1003=) rs2077967684
NM_000052.7(ATP7A):c.3012G>C (p.Leu1004=) rs2149104881
NM_000052.7(ATP7A):c.3021C>T (p.Ala1007=)
NM_000052.7(ATP7A):c.3027A>G (p.Pro1009=)
NM_000052.7(ATP7A):c.3036G>A (p.Val1012=) rs2149104907
NM_000052.7(ATP7A):c.3042G>A (p.Val1014=)
NM_000052.7(ATP7A):c.3045T>C (p.Gly1015=) rs2149104924
NM_000052.7(ATP7A):c.3048A>T (p.Thr1016=) rs2149104926
NM_000052.7(ATP7A):c.3066T>A (p.Asn1022Lys)
NM_000052.7(ATP7A):c.3069C>A (p.Gly1023=)
NM_000052.7(ATP7A):c.3072A>G (p.Ile1024Met)
NM_000052.7(ATP7A):c.3072A>T (p.Ile1024=)
NM_000052.7(ATP7A):c.3081A>G (p.Lys1027=) rs2149104947
NM_000052.7(ATP7A):c.3103G>A (p.Ala1035Thr) rs2077968562
NM_000052.7(ATP7A):c.3111+10T>C
NM_000052.7(ATP7A):c.3111+10T>G
NM_000052.7(ATP7A):c.3111+11C>A
NM_000052.7(ATP7A):c.3111+13C>G
NM_000052.7(ATP7A):c.3111+18A>T rs2149104971
NM_000052.7(ATP7A):c.3111+19C>T
NM_000052.7(ATP7A):c.3111+7C>T
NM_000052.7(ATP7A):c.3111+8A>G
NM_000052.7(ATP7A):c.3112-15_3112-14dup rs2077982901
NM_000052.7(ATP7A):c.3112-16C>G rs2149106076
NM_000052.7(ATP7A):c.3112-18A>G
NM_000052.7(ATP7A):c.3112-5T>C rs2149106085
NM_000052.7(ATP7A):c.3117G>A (p.Lys1039=)
NM_000052.7(ATP7A):c.3118G>T (p.Val1040Leu)
NM_000052.7(ATP7A):c.311A>C (p.Gln104Pro)
NM_000052.7(ATP7A):c.3129T>C (p.Phe1043=)
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=) rs797045370
NM_000052.7(ATP7A):c.3141A>C (p.Gly1047=)
NM_000052.7(ATP7A):c.3162A>G (p.Pro1054=)
NM_000052.7(ATP7A):c.3168G>A (p.Val1056=) rs371089220
NM_000052.7(ATP7A):c.3177A>C (p.Val1059=)
NM_000052.7(ATP7A):c.3186A>G (p.Leu1062=) rs2149106139
NM_000052.7(ATP7A):c.319T>C (p.Leu107=) rs2149082638
NM_000052.7(ATP7A):c.3212A>G (p.His1071Arg)
NM_000052.7(ATP7A):c.3226A>G (p.Ile1076Val)
NM_000052.7(ATP7A):c.3237T>G (p.Thr1079=) rs2149106153
NM_000052.7(ATP7A):c.3249C>T (p.Asn1083=)
NM_000052.7(ATP7A):c.3252T>C (p.Ser1084=) rs2149106168
NM_000052.7(ATP7A):c.3255A>G (p.Glu1085=) rs2149106169
NM_000052.7(ATP7A):c.3258C>T (p.His1086=)
NM_000052.7(ATP7A):c.3264A>G (p.Leu1088=)
NM_000052.7(ATP7A):c.3288C>T (p.Cys1096=)
NM_000052.7(ATP7A):c.3294+14C>T
NM_000052.7(ATP7A):c.3294+15dup
NM_000052.7(ATP7A):c.3294+16C>T
NM_000052.7(ATP7A):c.3294+7T>G
NM_000052.7(ATP7A):c.3294+8T>G
NM_000052.7(ATP7A):c.3295-11_3295-10del
NM_000052.7(ATP7A):c.3295-14T>C
NM_000052.7(ATP7A):c.3295-16T>C
NM_000052.7(ATP7A):c.3295-5G>T rs2149107138
NM_000052.7(ATP7A):c.3295-6del rs1557237411
NM_000052.7(ATP7A):c.3313T>C (p.Leu1105=)
NM_000052.7(ATP7A):c.332A>C (p.Lys111Thr)
NM_000052.7(ATP7A):c.3345A>G (p.Pro1115=)
NM_000052.7(ATP7A):c.3354T>A (p.Gly1118=)
NM_000052.7(ATP7A):c.3357T>A (p.Ile1119=) rs2149107179
NM_000052.7(ATP7A):c.3360C>T (p.Ser1120=)
NM_000052.7(ATP7A):c.339G>A (p.Val113=)
NM_000052.7(ATP7A):c.3423T>C (p.Asn1141=)
NM_000052.7(ATP7A):c.3435A>G (p.Ala1145=)
NM_000052.7(ATP7A):c.3462T>C (p.Asn1154=) rs2149107223
NM_000052.7(ATP7A):c.3465A>G (p.Glu1155=)
NM_000052.7(ATP7A):c.3486C>T (p.Ser1162=)
NM_000052.7(ATP7A):c.3487A>G (p.Met1163Val)
NM_000052.7(ATP7A):c.3488T>A (p.Met1163Lys)
NM_000052.7(ATP7A):c.3489G>A (p.Met1163Ile)
NM_000052.7(ATP7A):c.3498T>C (p.Asp1166=) rs2077996988
NM_000052.7(ATP7A):c.3501C>T (p.Ala1167=)
NM_000052.7(ATP7A):c.3507C>T (p.Ile1169=)
NM_000052.7(ATP7A):c.3511+8A>C rs2149107265
NM_000052.7(ATP7A):c.3511+9A>C
NM_000052.7(ATP7A):c.3511+9A>T rs2149107266
NM_000052.7(ATP7A):c.3512-14G>A
NM_000052.7(ATP7A):c.3512-16C>A
NM_000052.7(ATP7A):c.3512-16C>T
NM_000052.7(ATP7A):c.3512-6T>C rs2078029932
NM_000052.7(ATP7A):c.3512-7C>T
NM_000052.7(ATP7A):c.3512-8A>T
NM_000052.7(ATP7A):c.3525T>C (p.Ala1175=)
NM_000052.7(ATP7A):c.3531G>T (p.Gln1177His)
NM_000052.7(ATP7A):c.3537A>G (p.Lys1179=)
NM_000052.7(ATP7A):c.357C>T (p.Tyr119=)
NM_000052.7(ATP7A):c.3582C>T (p.Val1194=)
NM_000052.7(ATP7A):c.358C>T (p.Pro120Ser)
NM_000052.7(ATP7A):c.3592G>T (p.Asp1198Tyr)
NM_000052.7(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.7(ATP7A):c.360T>G (p.Pro120=)
NM_000052.7(ATP7A):c.3623G>A (p.Arg1208Lys)
NM_000052.7(ATP7A):c.3624A>G (p.Arg1208=)
NM_000052.7(ATP7A):c.3630T>C (p.Gly1210=)
NM_000052.7(ATP7A):c.3631C>T (p.Arg1211Trp)
NM_000052.7(ATP7A):c.3658+12C>T
NM_000052.7(ATP7A):c.3658+17G>T
NM_000052.7(ATP7A):c.3658+19A>G
NM_000052.7(ATP7A):c.3659-15C>T
NM_000052.7(ATP7A):c.3659-7A>G
NM_000052.7(ATP7A):c.3659-9C>T
NM_000052.7(ATP7A):c.3666G>C (p.Leu1222=)
NM_000052.7(ATP7A):c.3670G>A (p.Gly1224Ser)
NM_000052.7(ATP7A):c.3681C>T (p.Ala1227=)
NM_000052.7(ATP7A):c.3699G>A (p.Lys1233=) rs2149110480
NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=)
NM_000052.7(ATP7A):c.3727C>T (p.Leu1243=)
NM_000052.7(ATP7A):c.372T>C (p.Thr124=)
NM_000052.7(ATP7A):c.3753T>C (p.Val1251=)
NM_000052.7(ATP7A):c.3754C>T (p.Leu1252=) rs2149110492
NM_000052.7(ATP7A):c.377C>T (p.Ala126Val)
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=) rs1557238272
NM_000052.7(ATP7A):c.3801+11G>A
NM_000052.7(ATP7A):c.3801+17T>C
NM_000052.7(ATP7A):c.3801+20G>A
NM_000052.7(ATP7A):c.3802-15A>G
NM_000052.7(ATP7A):c.3802-6A>G rs2149111706
NM_000052.7(ATP7A):c.3802-6A>T rs2149111706
NM_000052.7(ATP7A):c.3810T>C (p.Ile1270=) rs2149111712
NM_000052.7(ATP7A):c.3825T>C (p.Ala1275=)
NM_000052.7(ATP7A):c.3834A>G (p.Leu1278=) rs2149111740
NM_000052.7(ATP7A):c.3840T>C (p.Ser1280=)
NM_000052.7(ATP7A):c.3846G>A (p.Lys1282=)
NM_000052.7(ATP7A):c.385A>G (p.Ile129Val)
NM_000052.7(ATP7A):c.3861G>A (p.Lys1287=) rs1043267619
NM_000052.7(ATP7A):c.3864A>G (p.Gln1288=) rs2149111751
NM_000052.7(ATP7A):c.3867T>G (p.Leu1289=)
NM_000052.7(ATP7A):c.3876G>A (p.Glu1292=)
NM_000052.7(ATP7A):c.3879G>A (p.Gly1293=)
NM_000052.7(ATP7A):c.3888A>G (p.Val1296=)
NM_000052.7(ATP7A):c.3927G>A (p.Leu1309=)
NM_000052.7(ATP7A):c.3930A>G (p.Ala1310=)
NM_000052.7(ATP7A):c.3939T>C (p.Asn1313=) rs2149111823
NM_000052.7(ATP7A):c.393T>A (p.Pro131=)
NM_000052.7(ATP7A):c.3951T>A (p.Ala1317=)
NM_000052.7(ATP7A):c.3954T>C (p.Ile1318=)
NM_000052.7(ATP7A):c.3960A>G (p.Thr1320=)
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=) rs369114635
NM_000052.7(ATP7A):c.3984A>C (p.Ala1328=)
NM_000052.7(ATP7A):c.3993G>A (p.Val1331=)
NM_000052.7(ATP7A):c.399A>G (p.Ile133Met)
NM_000052.7(ATP7A):c.39T>C (p.Ser13=) rs986987107
NM_000052.7(ATP7A):c.4005+13G>T
NM_000052.7(ATP7A):c.4005+16T>A
NM_000052.7(ATP7A):c.4005+17G>C
NM_000052.7(ATP7A):c.4006-10C>G
NM_000052.7(ATP7A):c.4006-13T>C
NM_000052.7(ATP7A):c.4006-4T>C
NM_000052.7(ATP7A):c.4006-7T>A
NM_000052.7(ATP7A):c.400G>A (p.Val134Met)
NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=)
NM_000052.7(ATP7A):c.4017G>C (p.Leu1339=)
NM_000052.7(ATP7A):c.4020T>C (p.Asp1340=) rs2078061918
NM_000052.7(ATP7A):c.402G>C (p.Val134=)
NM_000052.7(ATP7A):c.4038C>A (p.Asp1346Glu) rs375819425
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=) rs375819425
NM_000052.7(ATP7A):c.4056C>T (p.Val1352=)
NM_000052.7(ATP7A):c.4062G>A (p.Arg1354=) rs1603391261
NM_000052.7(ATP7A):c.4071A>C (p.Ile1357=) rs2078062354
NM_000052.7(ATP7A):c.4074T>C (p.Asn1358=)
NM_000052.7(ATP7A):c.4113C>T (p.Pro1371=)
NM_000052.7(ATP7A):c.4123+12T>A
NM_000052.7(ATP7A):c.4123+17T>C
NM_000052.7(ATP7A):c.4123+17T>G
NM_000052.7(ATP7A):c.4124-13A>G
NM_000052.7(ATP7A):c.4124-16C>T
NM_000052.7(ATP7A):c.4124-17C>A
NM_000052.7(ATP7A):c.4149T>A (p.Val1383=) rs2149113522
NM_000052.7(ATP7A):c.4166G>C (p.Gly1389Ala)
NM_000052.7(ATP7A):c.4167A>T (p.Gly1389=)
NM_000052.7(ATP7A):c.4176A>G (p.Ala1392=) rs2149113538
NM_000052.7(ATP7A):c.4182T>A (p.Ala1394=) rs2149113545
NM_000052.7(ATP7A):c.4188A>G (p.Ser1396=)
NM_000052.7(ATP7A):c.4226+12A>G
NM_000052.7(ATP7A):c.4226+18C>A
NM_000052.7(ATP7A):c.4226+20C>T
NM_000052.7(ATP7A):c.4226+7A>G
NM_000052.7(ATP7A):c.4226+9G>A rs1557239012
NM_000052.7(ATP7A):c.4227-10A>G
NM_000052.7(ATP7A):c.4227-11C>T rs2149113924
NM_000052.7(ATP7A):c.4227-12G>C
NM_000052.7(ATP7A):c.4227-16T>C
NM_000052.7(ATP7A):c.4227-17C>T
NM_000052.7(ATP7A):c.4227-18del
NM_000052.7(ATP7A):c.4238C>T (p.Pro1413Leu)
NM_000052.7(ATP7A):c.4263T>C (p.Pro1421=) rs2078083306
NM_000052.7(ATP7A):c.4264G>T (p.Ala1422Ser)
NM_000052.7(ATP7A):c.4266C>T (p.Ala1422=) rs2149113967
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp) rs149079962
NM_000052.7(ATP7A):c.4272C>T (p.Ser1424=) rs2149113981
NM_000052.7(ATP7A):c.4277T>C (p.Ile1426Thr)
NM_000052.7(ATP7A):c.429T>G (p.Val143=) rs2149082691
NM_000052.7(ATP7A):c.4308T>C (p.Val1436=) rs2149114009
NM_000052.7(ATP7A):c.4332A>G (p.Ser1444=) rs2149114035
NM_000052.7(ATP7A):c.4348C>T (p.Leu1450=) rs2149114038
NM_000052.7(ATP7A):c.4350G>T (p.Leu1450=) rs2149114044
NM_000052.7(ATP7A):c.4420C>T (p.Leu1474=)
NM_000052.7(ATP7A):c.444A>G (p.Leu148=)
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=) rs1603391708
NM_000052.7(ATP7A):c.4470A>T (p.Gly1490=)
NM_000052.7(ATP7A):c.453G>T (p.Gly151=)
NM_000052.7(ATP7A):c.459G>A (p.Leu153=)
NM_000052.7(ATP7A):c.479G>C (p.Cys160Ser)
NM_000052.7(ATP7A):c.489T>C (p.His163=)
NM_000052.7(ATP7A):c.48T>G (p.Gly16=) rs2149073819
NM_000052.7(ATP7A):c.504T>C (p.Ala168=)
NM_000052.7(ATP7A):c.523A>G (p.Met175Val)
NM_000052.7(ATP7A):c.528A>G (p.Lys176=) rs2149082749
NM_000052.7(ATP7A):c.52A>C (p.Thr18Pro)
NM_000052.7(ATP7A):c.52A>G (p.Thr18Ala)
NM_000052.7(ATP7A):c.534A>G (p.Glu178=) rs2077652554
NM_000052.7(ATP7A):c.537G>A (p.Gly179=)
NM_000052.7(ATP7A):c.543C>T (p.Thr181=)
NM_000052.7(ATP7A):c.552A>G (p.Ser184=) rs1557231655
NM_000052.7(ATP7A):c.552A>T (p.Ser184=)
NM_000052.7(ATP7A):c.555T>C (p.Cys185=)
NM_000052.7(ATP7A):c.558T>G (p.Thr186=)
NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr)
NM_000052.7(ATP7A):c.57C>T (p.Cys19=) rs145406974
NM_000052.7(ATP7A):c.597T>C (p.Val199=)
NM_000052.7(ATP7A):c.610+10C>T
NM_000052.7(ATP7A):c.610+13G>A
NM_000052.7(ATP7A):c.610+15G>T
NM_000052.7(ATP7A):c.610+18G>T
NM_000052.7(ATP7A):c.610+19A>C
NM_000052.7(ATP7A):c.610+20T>C
NM_000052.7(ATP7A):c.611-10T>C rs2149083014
NM_000052.7(ATP7A):c.611-16del
NM_000052.7(ATP7A):c.611-20T>C
NM_000052.7(ATP7A):c.611-21_611-17del rs1350377636
NM_000052.7(ATP7A):c.611-6A>G
NM_000052.7(ATP7A):c.612C>T (p.Val204=) rs2077655830
NM_000052.7(ATP7A):c.615C>T (p.Ser205=)
NM_000052.7(ATP7A):c.616C>T (p.Leu206=)
NM_000052.7(ATP7A):c.641T>C (p.Val214Ala)
NM_000052.7(ATP7A):c.656T>G (p.Leu219Arg)
NM_000052.7(ATP7A):c.678A>G (p.Lys226=)
NM_000052.7(ATP7A):c.687T>C (p.Ile229=)
NM_000052.7(ATP7A):c.69T>G (p.Val23=)
NM_000052.7(ATP7A):c.714C>A (p.Val238=) rs2149083069
NM_000052.7(ATP7A):c.721C>G (p.Gln241Glu)
NM_000052.7(ATP7A):c.737A>C (p.Lys246Thr) rs184646064
NM_000052.7(ATP7A):c.737A>T (p.Lys246Ile)
NM_000052.7(ATP7A):c.753T>C (p.Asp251=) rs2149083096
NM_000052.7(ATP7A):c.756A>G (p.Val252=)
NM_000052.7(ATP7A):c.774A>G (p.Thr258=)
NM_000052.7(ATP7A):c.789A>G (p.Ser263=)
NM_000052.7(ATP7A):c.798A>G (p.Ser266=)
NM_000052.7(ATP7A):c.801G>A (p.Gln267=)
NM_000052.7(ATP7A):c.816A>G (p.Ser272=) rs2149083124
NM_000052.7(ATP7A):c.81G>A (p.Glu27=) rs2149073851
NM_000052.7(ATP7A):c.822C>T (p.Thr274=) rs2149083127
NM_000052.7(ATP7A):c.824A>T (p.Asn275Ile)
NM_000052.7(ATP7A):c.828T>C (p.Asp276=) rs2077656976
NM_000052.7(ATP7A):c.831A>T (p.Ser277=) rs2149083138
NM_000052.7(ATP7A):c.837C>T (p.Ala279=)
NM_000052.7(ATP7A):c.843C>T (p.Phe281=)
NM_000052.7(ATP7A):c.849T>A (p.Ile283=)
NM_000052.7(ATP7A):c.84G>A (p.Gln28=) rs1603378828
NM_000052.7(ATP7A):c.860A>G (p.His287Arg)
NM_000052.7(ATP7A):c.870A>C (p.Ser290=)
NM_000052.7(ATP7A):c.8C>G (p.Pro3Arg)
NM_000052.7(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.7(ATP7A):c.906C>T (p.Leu302=)
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)
NM_000052.7(ATP7A):c.927A>G (p.Val309=) rs2149083187
NM_000052.7(ATP7A):c.939G>A (p.Glu313=)
NM_000052.7(ATP7A):c.942T>C (p.Asn314=) rs2149083195
NM_000052.7(ATP7A):c.945G>A (p.Arg315=) rs2149083198
NM_000052.7(ATP7A):c.971G>C (p.Ser324Thr) rs2149083223
NM_000052.7(ATP7A):c.978C>T (p.Val326=)
NM_000344.4(SMN1):c.462A>G (p.Gln154=) rs4915
NM_000344.4(SMN1):c.835-4dup rs1554082376
NM_000344.4(SMN1):c.841A>C (p.Arg281=) rs1482083567
NM_001003800.2(BICD2):c.1002C>G (p.Ser334=) rs1403546969
NM_001003800.2(BICD2):c.1008A>T (p.Leu336=) rs950357888
NM_001003800.2(BICD2):c.1020C>T (p.Leu340=) rs2131502090
NM_001003800.2(BICD2):c.102C>T (p.Ala34=)
NM_001003800.2(BICD2):c.1041G>A (p.Lys347=)
NM_001003800.2(BICD2):c.1047G>A (p.Lys349=) rs2131502064
NM_001003800.2(BICD2):c.1062+19C>T
NM_001003800.2(BICD2):c.1063-10G>A
NM_001003800.2(BICD2):c.1063-7T>A rs1853416488
NM_001003800.2(BICD2):c.1083C>A (p.Gly361=) rs1324298551
NM_001003800.2(BICD2):c.1083C>G (p.Gly361=)
NM_001003800.2(BICD2):c.1098G>A (p.Leu366=)
NM_001003800.2(BICD2):c.1098G>T (p.Leu366=) rs1423882382
NM_001003800.2(BICD2):c.1107A>G (p.Thr369=) rs1430715621
NM_001003800.2(BICD2):c.111G>A (p.Thr37=)
NM_001003800.2(BICD2):c.1120G>A (p.Glu374Lys)
NM_001003800.2(BICD2):c.1138C>T (p.Leu380=) rs767146224
NM_001003800.2(BICD2):c.1152G>A (p.Gln384=)
NM_001003800.2(BICD2):c.1161G>A (p.Val387=)
NM_001003800.2(BICD2):c.1203G>A (p.Gln401=) rs752209653
NM_001003800.2(BICD2):c.120G>A (p.Lys40=) rs761445273
NM_001003800.2(BICD2):c.1221G>A (p.Gln407=)
NM_001003800.2(BICD2):c.1230G>A (p.Leu410=)
NM_001003800.2(BICD2):c.1237G>A (p.Glu413Lys) rs368361239
NM_001003800.2(BICD2):c.1246C>T (p.Arg416Cys) rs1853409127
NM_001003800.2(BICD2):c.1251C>T (p.Asp417=)
NM_001003800.2(BICD2):c.1293G>A (p.Gly431=)
NM_001003800.2(BICD2):c.1299G>A (p.Glu433=)
NM_001003800.2(BICD2):c.12G>A (p.Pro4=)
NM_001003800.2(BICD2):c.1308C>T (p.Ala436=)
NM_001003800.2(BICD2):c.1335G>A (p.Glu445=) rs1853406194
NM_001003800.2(BICD2):c.1350C>T (p.Arg450=)
NM_001003800.2(BICD2):c.1366C>T (p.Leu456=)
NM_001003800.2(BICD2):c.1380C>T (p.His460=) rs922441020
NM_001003800.2(BICD2):c.1392G>A (p.Glu464=) rs952855123
NM_001003800.2(BICD2):c.141G>A (p.Gly47=)
NM_001003800.2(BICD2):c.1428T>G (p.Ala476=)
NM_001003800.2(BICD2):c.1432G>A (p.Gly478Ser)
NM_001003800.2(BICD2):c.1443C>A (p.Leu481=) rs550844711
NM_001003800.2(BICD2):c.1458C>T (p.Ser486=) rs1853400904
NM_001003800.2(BICD2):c.1462C>T (p.Leu488=) rs1404238241
NM_001003800.2(BICD2):c.1467G>A (p.Glu489=)
NM_001003800.2(BICD2):c.1473C>T (p.Ala491=)
NM_001003800.2(BICD2):c.1478G>A (p.Arg493His)
NM_001003800.2(BICD2):c.1482G>A (p.Gln494=)
NM_001003800.2(BICD2):c.1503G>A (p.Arg501=) rs1554705508
NM_001003800.2(BICD2):c.1503G>T (p.Arg501=) rs1554705508
NM_001003800.2(BICD2):c.1506G>A (p.Leu502=)
NM_001003800.2(BICD2):c.150G>C (p.Val50=) rs186133837
NM_001003800.2(BICD2):c.1512G>A (p.Lys504=)
NM_001003800.2(BICD2):c.153C>A (p.Leu51=) rs1307832803
NM_001003800.2(BICD2):c.1548A>G (p.Thr516=)
NM_001003800.2(BICD2):c.1551G>A (p.Gln517=) rs773975705
NM_001003800.2(BICD2):c.1552G>C (p.Gly518Arg)
NM_001003800.2(BICD2):c.1563T>C (p.Ser521=) rs2131500516
NM_001003800.2(BICD2):c.1569C>T (p.Ala523=) rs1587668828
NM_001003800.2(BICD2):c.1584G>T (p.Val528=)
NM_001003800.2(BICD2):c.1617C>T (p.His539=)
NM_001003800.2(BICD2):c.1674C>A (p.Arg558=) rs35535468
NM_001003800.2(BICD2):c.1674C>T (p.Arg558=) rs35535468
NM_001003800.2(BICD2):c.1711G>A (p.Gly571Ser)
NM_001003800.2(BICD2):c.1712G>T (p.Gly571Val)
NM_001003800.2(BICD2):c.1713C>G (p.Gly571=)
NM_001003800.2(BICD2):c.1719C>A (p.Thr573=) rs1587668638
NM_001003800.2(BICD2):c.1725C>T (p.Pro575=) rs201343832
NM_001003800.2(BICD2):c.1731G>A (p.Ala577=)
NM_001003800.2(BICD2):c.1732C>T (p.Arg578Cys)
NM_001003800.2(BICD2):c.1758A>G (p.Leu586=) rs540475126
NM_001003800.2(BICD2):c.1824G>C (p.Ser608=)
NM_001003800.2(BICD2):c.1842A>T (p.Pro614=)
NM_001003800.2(BICD2):c.1897A>G (p.Ile633Val)
NM_001003800.2(BICD2):c.18G>A (p.Glu6=) rs2131542789
NM_001003800.2(BICD2):c.192C>T (p.Leu64=)
NM_001003800.2(BICD2):c.1959C>G (p.Arg653=)
NM_001003800.2(BICD2):c.1993G>A (p.Val665Met)
NM_001003800.2(BICD2):c.2004C>T (p.Asp668=)
NM_001003800.2(BICD2):c.2064G>A (p.Glu688=) rs1198718448
NM_001003800.2(BICD2):c.2091C>T (p.Leu697=)
NM_001003800.2(BICD2):c.2106+11A>C
NM_001003800.2(BICD2):c.2106+13G>A
NM_001003800.2(BICD2):c.2106+8G>A rs1587668064
NM_001003800.2(BICD2):c.2107-11C>T
NM_001003800.2(BICD2):c.2107-15A>G
NM_001003800.2(BICD2):c.2107-7C>G
NM_001003800.2(BICD2):c.2175C>G (p.Thr725=)
NM_001003800.2(BICD2):c.2184G>A (p.Lys728=) rs771619173
NM_001003800.2(BICD2):c.2223C>T (p.Ala741=)
NM_001003800.2(BICD2):c.2229C>T (p.Phe743=)
NM_001003800.2(BICD2):c.2235G>A (p.Ser745=)
NM_001003800.2(BICD2):c.2235G>T (p.Ser745=)
NM_001003800.2(BICD2):c.2258+14T>C
NM_001003800.2(BICD2):c.2258+17C>G
NM_001003800.2(BICD2):c.2258+7G>A
NM_001003800.2(BICD2):c.2301G>A (p.Gln767=) rs1357621526
NM_001003800.2(BICD2):c.2340G>T (p.Ser780=)
NM_001003800.2(BICD2):c.2355C>T (p.Ala785=)
NM_001003800.2(BICD2):c.2358C>A (p.Ile786=) rs2131496275
NM_001003800.2(BICD2):c.2364G>A (p.Gln788=)
NM_001003800.2(BICD2):c.2368C>T (p.Leu790=)
NM_001003800.2(BICD2):c.2370G>A (p.Leu790=)
NM_001003800.2(BICD2):c.2397C>G (p.Leu799=)
NM_001003800.2(BICD2):c.240+11C>T
NM_001003800.2(BICD2):c.240+14C>T
NM_001003800.2(BICD2):c.240+8G>A
NM_001003800.2(BICD2):c.241-12C>T
NM_001003800.2(BICD2):c.241-4G>A rs1400871977
NM_001003800.2(BICD2):c.2412G>A (p.Glu804=)
NM_001003800.2(BICD2):c.2439C>T (p.Ala813=)
NM_001003800.2(BICD2):c.2444C>T (p.Pro815Leu)
NM_001003800.2(BICD2):c.2466G>A (p.Pro822=)
NM_001003800.2(BICD2):c.246T>C (p.Phe82=)
NM_001003800.2(BICD2):c.2481C>G (p.Thr827=)
NM_001003800.2(BICD2):c.2493C>T (p.Ala831=)
NM_001003800.2(BICD2):c.2496C>T (p.Ser832=)
NM_001003800.2(BICD2):c.2527C>G (p.Gln843Glu)
NM_001003800.2(BICD2):c.2559C>T (p.Tyr853=)
NM_001003800.2(BICD2):c.258C>T (p.His86=) rs771744154
NM_001003800.2(BICD2):c.291G>A (p.Glu97=)
NM_001003800.2(BICD2):c.307C>T (p.Leu103=) rs1554706634
NM_001003800.2(BICD2):c.30C>T (p.Tyr10=)
NM_001003800.2(BICD2):c.327C>T (p.Ser109=) rs372097396
NM_001003800.2(BICD2):c.342C>T (p.Tyr114=)
NM_001003800.2(BICD2):c.361C>T (p.Leu121=)
NM_001003800.2(BICD2):c.36G>C (p.Arg12=)
NM_001003800.2(BICD2):c.393C>A (p.Val131=)
NM_001003800.2(BICD2):c.396C>T (p.Leu132=)
NM_001003800.2(BICD2):c.39G>A (p.Leu13=)
NM_001003800.2(BICD2):c.453+13G>A rs773913737
NM_001003800.2(BICD2):c.453+17G>A
NM_001003800.2(BICD2):c.453+20C>T
NM_001003800.2(BICD2):c.453+8G>T rs1180069016
NM_001003800.2(BICD2):c.453+9G>A
NM_001003800.2(BICD2):c.454-10C>T
NM_001003800.2(BICD2):c.454-5A>G rs1554706060
NM_001003800.2(BICD2):c.454-6C>T
NM_001003800.2(BICD2):c.454-9C>A
NM_001003800.2(BICD2):c.466G>A (p.Val156Met)
NM_001003800.2(BICD2):c.501C>A (p.Ile167=)
NM_001003800.2(BICD2):c.513A>G (p.Lys171=) rs1587671742
NM_001003800.2(BICD2):c.516C>T (p.Phe172=)
NM_001003800.2(BICD2):c.546G>C (p.Ser182=)
NM_001003800.2(BICD2):c.597A>G (p.Arg199=)
NM_001003800.2(BICD2):c.606+18G>T rs764986592
NM_001003800.2(BICD2):c.607-15G>T
NM_001003800.2(BICD2):c.607-18G>A
NM_001003800.2(BICD2):c.607-18G>C rs370358019
NM_001003800.2(BICD2):c.607-19C>T
NM_001003800.2(BICD2):c.607-8C>T
NM_001003800.2(BICD2):c.645G>A (p.Leu215=) rs2131502716
NM_001003800.2(BICD2):c.651G>A (p.Glu217=)
NM_001003800.2(BICD2):c.69C>T (p.Arg23=)
NM_001003800.2(BICD2):c.6G>C (p.Ser2=) rs2131542810
NM_001003800.2(BICD2):c.714G>A (p.Arg238=)
NM_001003800.2(BICD2):c.717G>C (p.Gln239His)
NM_001003800.2(BICD2):c.720G>A (p.Leu240=)
NM_001003800.2(BICD2):c.729G>T (p.Ala243=)
NM_001003800.2(BICD2):c.72C>T (p.Ala24=)
NM_001003800.2(BICD2):c.756A>G (p.Glu252=)
NM_001003800.2(BICD2):c.759G>A (p.Gln253=)
NM_001003800.2(BICD2):c.761A>G (p.Lys254Arg) rs1367809298
NM_001003800.2(BICD2):c.786A>G (p.Ser262=)
NM_001003800.2(BICD2):c.791A>G (p.Tyr264Cys)
NM_001003800.2(BICD2):c.819C>T (p.Thr273=) rs1587670357
NM_001003800.2(BICD2):c.823C>T (p.His275Tyr)
NM_001003800.2(BICD2):c.84G>A (p.Arg28=)
NM_001003800.2(BICD2):c.870C>T (p.Ala290=)
NM_001003800.2(BICD2):c.873G>A (p.Glu291=)
NM_001003800.2(BICD2):c.876C>G (p.Pro292=) rs1564061112
NM_001003800.2(BICD2):c.882C>T (p.Asn294=)
NM_001003800.2(BICD2):c.888C>T (p.Ala296=)
NM_001003800.2(BICD2):c.897G>A (p.Leu299=)
NM_001003800.2(BICD2):c.903T>C (p.Asn301=) rs1853438934
NM_001003800.2(BICD2):c.90C>T (p.Ser30=) rs1417077198
NM_001003800.2(BICD2):c.919G>A (p.Gly307Ser)
NM_001003800.2(BICD2):c.922C>T (p.Leu308=) rs2131502256
NM_001003800.2(BICD2):c.945C>T (p.Asn315=) rs1406227956
NM_001003800.2(BICD2):c.976G>T (p.Ala326Ser) rs571839806
NM_001003800.2(BICD2):c.990C>A (p.Pro330=)
NM_001003800.2(BICD2):c.990C>G (p.Pro330=) rs371444272
NM_001003800.2(BICD2):c.990C>T (p.Pro330=)
NM_001003800.2(BICD2):c.996C>G (p.Leu332=)
NM_001003800.2(BICD2):c.996C>T (p.Leu332=)
NM_001003800.2(BICD2):c.9G>A (p.Ala3=) rs2131542805
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_001122955.4(BSCL2):c.405-21TCC[2] rs768556778
NM_001122955.4(BSCL2):c.487-20A>T rs115756273
NM_001130438.3(SPTAN1):c.3414+4T>C rs794727389
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg) rs2131953509
NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser) rs1589389281
NM_001376.5(DYNC1H1):c.13373-4G>A rs2152600995
NM_001376.5(DYNC1H1):c.13515+19dup rs774180410
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_002180.3(IGHMBP2):c.*524T>C rs192025232
NM_002180.3(IGHMBP2):c.*648G>A rs139118510
NM_002180.3(IGHMBP2):c.*729G>A rs191714559
NM_002180.3(IGHMBP2):c.1008A>G (p.Ala336=)
NM_002180.3(IGHMBP2):c.1011T>G (p.Ala337=)
NM_002180.3(IGHMBP2):c.1017C>G (p.Leu339=)
NM_002180.3(IGHMBP2):c.1017C>T (p.Leu339=)
NM_002180.3(IGHMBP2):c.1026C>T (p.Leu342=)
NM_002180.3(IGHMBP2):c.1053A>C (p.Thr351=)
NM_002180.3(IGHMBP2):c.1060+18T>A
NM_002180.3(IGHMBP2):c.1060+7G>A
NM_002180.3(IGHMBP2):c.1060+8G>C
NM_002180.3(IGHMBP2):c.1060+9G>A
NM_002180.3(IGHMBP2):c.1061-16T>C
NM_002180.3(IGHMBP2):c.1061-17C>T
NM_002180.3(IGHMBP2):c.1061-20C>A
NM_002180.3(IGHMBP2):c.1061-20C>T
NM_002180.3(IGHMBP2):c.1061-7C>T
NM_002180.3(IGHMBP2):c.1065G>T (p.Ala355=)
NM_002180.3(IGHMBP2):c.1074T>C (p.Asp358=)
NM_002180.3(IGHMBP2):c.1080C>G (p.Pro360=)
NM_002180.3(IGHMBP2):c.1086G>A (p.Lys362=)
NM_002180.3(IGHMBP2):c.108T>G (p.Ser36=) rs2154006530
NM_002180.3(IGHMBP2):c.1095C>T (p.Pro365=)
NM_002180.3(IGHMBP2):c.1101C>T (p.Ser367=)
NM_002180.3(IGHMBP2):c.1107C>T (p.Phe369=)
NM_002180.3(IGHMBP2):c.1122T>C (p.Ile374=)
NM_002180.3(IGHMBP2):c.1143C>G (p.Leu381=) rs145314949
NM_002180.3(IGHMBP2):c.1161C>T (p.Ile387=)
NM_002180.3(IGHMBP2):c.1164C>G (p.Pro388=)
NM_002180.3(IGHMBP2):c.1165C>T (p.Leu389=)
NM_002180.3(IGHMBP2):c.117G>A (p.Glu39=)
NM_002180.3(IGHMBP2):c.1218C>A (p.Pro406=)
NM_002180.3(IGHMBP2):c.1218C>G (p.Pro406=)
NM_002180.3(IGHMBP2):c.1218C>T (p.Pro406=)
NM_002180.3(IGHMBP2):c.1224A>G (p.Thr408=)
NM_002180.3(IGHMBP2):c.1235+10del rs747881237
NM_002180.3(IGHMBP2):c.1235+13T>C
NM_002180.3(IGHMBP2):c.1235+17_1235+25del
NM_002180.3(IGHMBP2):c.1235+18_1235+27del
NM_002180.3(IGHMBP2):c.1235+20_1235+21del
NM_002180.3(IGHMBP2):c.1235+894C>G
NM_002180.3(IGHMBP2):c.1235+894C>T
NM_002180.3(IGHMBP2):c.1236-17C>T
NM_002180.3(IGHMBP2):c.1236-19T>A
NM_002180.3(IGHMBP2):c.1236-4G>T
NM_002180.3(IGHMBP2):c.1236-6G>C rs201538340
NM_002180.3(IGHMBP2):c.1236-6G>T
NM_002180.3(IGHMBP2):c.1239T>C (p.Ala413=)
NM_002180.3(IGHMBP2):c.1242G>A (p.Ala414=)
NM_002180.3(IGHMBP2):c.1254G>A (p.Leu418=)
NM_002180.3(IGHMBP2):c.1260C>G (p.Leu420=) rs1345673085
NM_002180.3(IGHMBP2):c.1263C>T (p.Ser421=)
NM_002180.3(IGHMBP2):c.1275C>T (p.Arg425=)
NM_002180.3(IGHMBP2):c.1287G>A (p.Glu429=)
NM_002180.3(IGHMBP2):c.1296G>C (p.Ala432=)
NM_002180.3(IGHMBP2):c.12A>G (p.Ala4=)
NM_002180.3(IGHMBP2):c.1307G>A (p.Arg436Gln)
NM_002180.3(IGHMBP2):c.1317G>A (p.Thr439=)
NM_002180.3(IGHMBP2):c.1362C>T (p.Asp454=)
NM_002180.3(IGHMBP2):c.1377G>C (p.Gly459=)
NM_002180.3(IGHMBP2):c.1383C>T (p.Leu461=)
NM_002180.3(IGHMBP2):c.1392C>T (p.His464=)
NM_002180.3(IGHMBP2):c.1395T>C (p.Ser465=) rs1594451498
NM_002180.3(IGHMBP2):c.1398C>G (p.Ser466=)
NM_002180.3(IGHMBP2):c.1398C>T (p.Ser466=) rs147477786
NM_002180.3(IGHMBP2):c.1410C>T (p.His470=) rs1484199036
NM_002180.3(IGHMBP2):c.1413C>G (p.Leu471=)
NM_002180.3(IGHMBP2):c.1416G>A (p.Leu472=)
NM_002180.3(IGHMBP2):c.1418+13G>T
NM_002180.3(IGHMBP2):c.1419-10T>C
NM_002180.3(IGHMBP2):c.1419-12C>T
NM_002180.3(IGHMBP2):c.1419-17C>T
NM_002180.3(IGHMBP2):c.1419-8T>C
NM_002180.3(IGHMBP2):c.1428A>G (p.Pro476=)
NM_002180.3(IGHMBP2):c.1443A>G (p.Thr481=)
NM_002180.3(IGHMBP2):c.1461C>T (p.Pro487=)
NM_002180.3(IGHMBP2):c.1464G>A (p.Leu488=)
NM_002180.3(IGHMBP2):c.1464G>C (p.Leu488=)
NM_002180.3(IGHMBP2):c.1468T>C (p.Leu490=)
NM_002180.3(IGHMBP2):c.1470G>A (p.Leu490=)
NM_002180.3(IGHMBP2):c.1479C>G (p.Thr493=) rs370367228
NM_002180.3(IGHMBP2):c.1488C>T (p.Cys496=) rs145226920
NM_002180.3(IGHMBP2):c.1494G>A (p.Leu498=)
NM_002180.3(IGHMBP2):c.1503G>T (p.Leu501=)
NM_002180.3(IGHMBP2):c.150G>T (p.Leu50=)
NM_002180.3(IGHMBP2):c.1518A>G (p.Glu506=)
NM_002180.3(IGHMBP2):c.1524G>A (p.Ser508=) rs747627986
NM_002180.3(IGHMBP2):c.1524G>C (p.Ser508=) rs747627986
NM_002180.3(IGHMBP2):c.1524G>T (p.Ser508=) rs747627986
NM_002180.3(IGHMBP2):c.1537+10C>T
NM_002180.3(IGHMBP2):c.1537+13G>A
NM_002180.3(IGHMBP2):c.1537+15A>C
NM_002180.3(IGHMBP2):c.1537+18T>C
NM_002180.3(IGHMBP2):c.1538-11_1538-8del rs1566444289
NM_002180.3(IGHMBP2):c.1538-20C>G
NM_002180.3(IGHMBP2):c.1538-4C>T rs757915735
NM_002180.3(IGHMBP2):c.1538-5T>G
NM_002180.3(IGHMBP2):c.1538-7C>A
NM_002180.3(IGHMBP2):c.1538-9T>A
NM_002180.3(IGHMBP2):c.1539C>G (p.Gly513=) rs746624957
NM_002180.3(IGHMBP2):c.1539C>T (p.Gly513=) rs746624957
NM_002180.3(IGHMBP2):c.1575G>A (p.Leu525=)
NM_002180.3(IGHMBP2):c.1578G>A (p.Val526=)
NM_002180.3(IGHMBP2):c.1584T>G (p.Ala528=) rs1461885178
NM_002180.3(IGHMBP2):c.15T>A (p.Ala5=)
NM_002180.3(IGHMBP2):c.1608T>A (p.Ala536=)
NM_002180.3(IGHMBP2):c.1617G>A (p.Ser539=)
NM_002180.3(IGHMBP2):c.1632+12T>C
NM_002180.3(IGHMBP2):c.1632+13C>T
NM_002180.3(IGHMBP2):c.1632+15T>A
NM_002180.3(IGHMBP2):c.1632+16T>G
NM_002180.3(IGHMBP2):c.1632+19G>A
NM_002180.3(IGHMBP2):c.1632+7G>A
NM_002180.3(IGHMBP2):c.1632+8G>A
NM_002180.3(IGHMBP2):c.1633-12C>G
NM_002180.3(IGHMBP2):c.1633-15C>T
NM_002180.3(IGHMBP2):c.1633-7G>A
NM_002180.3(IGHMBP2):c.1638C>T (p.Asp546=)
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=) rs2154006537
NM_002180.3(IGHMBP2):c.1692C>G (p.Val564=)
NM_002180.3(IGHMBP2):c.1692C>T (p.Val564=)
NM_002180.3(IGHMBP2):c.1701C>T (p.Phe567=) rs2154008770
NM_002180.3(IGHMBP2):c.1713G>A (p.Glu571=)
NM_002180.3(IGHMBP2):c.1719G>A (p.Glu573=)
NM_002180.3(IGHMBP2):c.171T>C (p.Thr57=)
NM_002180.3(IGHMBP2):c.1731G>C (p.Leu577=)
NM_002180.3(IGHMBP2):c.1734C>T (p.Ser578=)
NM_002180.3(IGHMBP2):c.1741A>C (p.Arg581=)
NM_002180.3(IGHMBP2):c.1756+16C>T
NM_002180.3(IGHMBP2):c.1756+7A>G
NM_002180.3(IGHMBP2):c.1757-13T>C
NM_002180.3(IGHMBP2):c.1757-17C>T
NM_002180.3(IGHMBP2):c.1757-19C>T
NM_002180.3(IGHMBP2):c.1757-4G>A
NM_002180.3(IGHMBP2):c.1757-4G>T
NM_002180.3(IGHMBP2):c.1757-9C>T
NM_002180.3(IGHMBP2):c.1773T>G (p.Leu591=)
NM_002180.3(IGHMBP2):c.177G>A (p.Leu59=) rs776499527
NM_002180.3(IGHMBP2):c.1783C>A (p.Arg595=)
NM_002180.3(IGHMBP2):c.1803C>T (p.Val601=)
NM_002180.3(IGHMBP2):c.1806C>T (p.Thr602=)
NM_002180.3(IGHMBP2):c.1824G>C (p.Val608=)
NM_002180.3(IGHMBP2):c.1848T>C (p.Thr616=) rs1164401206
NM_002180.3(IGHMBP2):c.184C>A (p.Arg62=) rs768631087
NM_002180.3(IGHMBP2):c.1854C>T (p.Asn618=)
NM_002180.3(IGHMBP2):c.1857C>T (p.Asn619=)
NM_002180.3(IGHMBP2):c.189G>A (p.Leu63=)
NM_002180.3(IGHMBP2):c.189G>C (p.Leu63=)
NM_002180.3(IGHMBP2):c.1923G>A (p.Glu641=) rs1555247971
NM_002180.3(IGHMBP2):c.1938T>C (p.Ile646=) rs1555247978
NM_002180.3(IGHMBP2):c.195C>T (p.Val65=)
NM_002180.3(IGHMBP2):c.1974T>G (p.Gly658=) rs1859531837
NM_002180.3(IGHMBP2):c.1977C>T (p.Ser659=)
NM_002180.3(IGHMBP2):c.1986T>C (p.Ala662=)
NM_002180.3(IGHMBP2):c.1989C>T (p.Ala663=)
NM_002180.3(IGHMBP2):c.1998C>T (p.Pro666=) rs1308205831
NM_002180.3(IGHMBP2):c.2013G>A (p.Thr671=)
NM_002180.3(IGHMBP2):c.2043G>A (p.Glu681=)
NM_002180.3(IGHMBP2):c.2079_2080delinsGT (p.Arg694Trp) rs2154008864
NM_002180.3(IGHMBP2):c.2094T>C (p.Ala698=)
NM_002180.3(IGHMBP2):c.2118T>C (p.Ala706=)
NM_002180.3(IGHMBP2):c.211C>A (p.Arg71=) rs773543257
NM_002180.3(IGHMBP2):c.2121A>C (p.Pro707=) rs1342765347
NM_002180.3(IGHMBP2):c.2157A>G (p.Gly719=) rs774145467
NM_002180.3(IGHMBP2):c.2172T>C (p.Asp724=)
NM_002180.3(IGHMBP2):c.2193C>T (p.Ala731=)
NM_002180.3(IGHMBP2):c.2202G>C (p.Val734=)
NM_002180.3(IGHMBP2):c.2230T>C (p.Leu744=)
NM_002180.3(IGHMBP2):c.2238T>C (p.Phe746=)
NM_002180.3(IGHMBP2):c.2262C>T (p.Asp754=)
NM_002180.3(IGHMBP2):c.2266C>T (p.Leu756=)
NM_002180.3(IGHMBP2):c.2274C>G (p.Val758=)
NM_002180.3(IGHMBP2):c.2286C>G (p.Ala762=)
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=) rs149185954
NM_002180.3(IGHMBP2):c.2299C>T (p.Leu767=)
NM_002180.3(IGHMBP2):c.2316C>G (p.Ser772=)
NM_002180.3(IGHMBP2):c.2325G>C (p.Gly775=)
NM_002180.3(IGHMBP2):c.234T>C (p.Leu78=)
NM_002180.3(IGHMBP2):c.2373A>T (p.Ala791=)
NM_002180.3(IGHMBP2):c.2394G>C (p.Gly798=) rs757779436
NM_002180.3(IGHMBP2):c.2406A>G (p.Pro802=)
NM_002180.3(IGHMBP2):c.2409C>T (p.Ala803=)
NM_002180.3(IGHMBP2):c.2418G>A (p.Gln806=)
NM_002180.3(IGHMBP2):c.2427C>G (p.Pro809=) rs1165471451
NM_002180.3(IGHMBP2):c.2427C>T (p.Pro809=)
NM_002180.3(IGHMBP2):c.2433C>T (p.Thr811=) rs915018099
NM_002180.3(IGHMBP2):c.2442G>A (p.Gln814=)
NM_002180.3(IGHMBP2):c.2445A>G (p.Thr815=)
NM_002180.3(IGHMBP2):c.2448G>A (p.Glu816=) rs1005880496
NM_002180.3(IGHMBP2):c.2457C>G (p.Pro819=)
NM_002180.3(IGHMBP2):c.2466G>A (p.Gln822=)
NM_002180.3(IGHMBP2):c.2475A>T (p.Pro825=) rs1241285720
NM_002180.3(IGHMBP2):c.2478C>T (p.Asp826=)
NM_002180.3(IGHMBP2):c.2496G>C (p.Thr832=) rs756948501
NM_002180.3(IGHMBP2):c.2529C>T (p.Ser843=)
NM_002180.3(IGHMBP2):c.2532G>C (p.Ala844=)
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.2538G>A (p.Gly846=)
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=) rs746248057
NM_002180.3(IGHMBP2):c.2550C>T (p.Ser850=) rs764637193
NM_002180.3(IGHMBP2):c.2556G>A (p.Glu852=)
NM_002180.3(IGHMBP2):c.256+14G>A
NM_002180.3(IGHMBP2):c.256+17C>T
NM_002180.3(IGHMBP2):c.256+20G>A
NM_002180.3(IGHMBP2):c.256+7del
NM_002180.3(IGHMBP2):c.2565C>G (p.Ala855=)
NM_002180.3(IGHMBP2):c.257-10G>C
NM_002180.3(IGHMBP2):c.257-11T>C
NM_002180.3(IGHMBP2):c.257-11T>G
NM_002180.3(IGHMBP2):c.257-15T>G
NM_002180.3(IGHMBP2):c.257-17A>C
NM_002180.3(IGHMBP2):c.257-4G>A rs1484354967
NM_002180.3(IGHMBP2):c.257-4G>C
NM_002180.3(IGHMBP2):c.257-5T>C rs2154006685
NM_002180.3(IGHMBP2):c.2601A>G (p.Lys867=)
NM_002180.3(IGHMBP2):c.2607C>A (p.Ala869=)
NM_002180.3(IGHMBP2):c.2607C>T (p.Ala869=)
NM_002180.3(IGHMBP2):c.2611+12A>G rs2154008964
NM_002180.3(IGHMBP2):c.2611+14dup
NM_002180.3(IGHMBP2):c.2611+17G>C
NM_002180.3(IGHMBP2):c.2611+17_2611+19del
NM_002180.3(IGHMBP2):c.2611+20C>T
NM_002180.3(IGHMBP2):c.2611+7C>T rs1343219004
NM_002180.3(IGHMBP2):c.2612-10T>C rs2154009107
NM_002180.3(IGHMBP2):c.2612-11G>A
NM_002180.3(IGHMBP2):c.2612-12G>A
NM_002180.3(IGHMBP2):c.2612-15dup
NM_002180.3(IGHMBP2):c.2612-20G>A
NM_002180.3(IGHMBP2):c.2612-4C>T rs1859624339
NM_002180.3(IGHMBP2):c.261T>C (p.Asp87=)
NM_002180.3(IGHMBP2):c.2637G>A (p.Thr879=)
NM_002180.3(IGHMBP2):c.264C>A (p.Ile88=)
NM_002180.3(IGHMBP2):c.264C>T (p.Ile88=)
NM_002180.3(IGHMBP2):c.270C>T (p.Gly90=)
NM_002180.3(IGHMBP2):c.2712C>T (p.Ala904=)
NM_002180.3(IGHMBP2):c.2736C>T (p.Phe912=)
NM_002180.3(IGHMBP2):c.273G>A (p.Leu91=)
NM_002180.3(IGHMBP2):c.2760C>T (p.Tyr920=)
NM_002180.3(IGHMBP2):c.2766C>G (p.Leu922=)
NM_002180.3(IGHMBP2):c.2781C>T (p.Pro927=)
NM_002180.3(IGHMBP2):c.2784+15C>A
NM_002180.3(IGHMBP2):c.2784+7C>G
NM_002180.3(IGHMBP2):c.2784+8G>A
NM_002180.3(IGHMBP2):c.2785-13G>C
NM_002180.3(IGHMBP2):c.2785-13G>T
NM_002180.3(IGHMBP2):c.2785-14T>G
NM_002180.3(IGHMBP2):c.2785-19A>G
NM_002180.3(IGHMBP2):c.2785-4C>G
NM_002180.3(IGHMBP2):c.2785-4C>T
NM_002180.3(IGHMBP2):c.2785-6C>T
NM_002180.3(IGHMBP2):c.2785-7_2785-4del
NM_002180.3(IGHMBP2):c.2785-8C>T
NM_002180.3(IGHMBP2):c.2785-9C>T
NM_002180.3(IGHMBP2):c.2787C>T (p.Ile929=)
NM_002180.3(IGHMBP2):c.2790T>C (p.His930=)
NM_002180.3(IGHMBP2):c.2811C>T (p.Arg937=)
NM_002180.3(IGHMBP2):c.2817T>C (p.His939=)
NM_002180.3(IGHMBP2):c.2821C>A (p.Arg941=) rs557641477
NM_002180.3(IGHMBP2):c.2850C>T (p.Leu950=)
NM_002180.3(IGHMBP2):c.2856C>A (p.Ala952=) rs759627672
NM_002180.3(IGHMBP2):c.2859C>T (p.Gly953=)
NM_002180.3(IGHMBP2):c.285T>C (p.Ala95=)
NM_002180.3(IGHMBP2):c.2868C>G (p.Thr956=)
NM_002180.3(IGHMBP2):c.2868C>T (p.Thr956=) rs752024072
NM_002180.3(IGHMBP2):c.2880C>G (p.Ser960=)
NM_002180.3(IGHMBP2):c.2892C>G (p.Ala964=)
NM_002180.3(IGHMBP2):c.2901C>T (p.Ala967=) rs2154009296
NM_002180.3(IGHMBP2):c.2919G>A (p.Leu973=)
NM_002180.3(IGHMBP2):c.2937G>A (p.Glu979=)
NM_002180.3(IGHMBP2):c.2946C>T (p.Asn982=)
NM_002180.3(IGHMBP2):c.2964G>A (p.Arg988=)
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=) rs1281690554
NM_002180.3(IGHMBP2):c.318G>A (p.Leu106=)
NM_002180.3(IGHMBP2):c.324G>A (p.Arg108=) rs2154006693
NM_002180.3(IGHMBP2):c.351C>T (p.Ala117=) rs1858280736
NM_002180.3(IGHMBP2):c.36G>A (p.Lys12=)
NM_002180.3(IGHMBP2):c.39A>G (p.Gln13=)
NM_002180.3(IGHMBP2):c.408G>A (p.Leu136=)
NM_002180.3(IGHMBP2):c.435C>T (p.Tyr145=)
NM_002180.3(IGHMBP2):c.438G>A (p.Arg146=)
NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=) rs1594418098
NM_002180.3(IGHMBP2):c.441A>T (p.Arg147=)
NM_002180.3(IGHMBP2):c.447A>G (p.Lys149=)
NM_002180.3(IGHMBP2):c.449+13G>A
NM_002180.3(IGHMBP2):c.449+17G>A
NM_002180.3(IGHMBP2):c.449+7G>T
NM_002180.3(IGHMBP2):c.449+8G>C
NM_002180.3(IGHMBP2):c.450-17G>C
NM_002180.3(IGHMBP2):c.450-4G>A
NM_002180.3(IGHMBP2):c.450-4G>T
NM_002180.3(IGHMBP2):c.450-6T>C
NM_002180.3(IGHMBP2):c.453C>A (p.Ala151=)
NM_002180.3(IGHMBP2):c.463C>T (p.Leu155=)
NM_002180.3(IGHMBP2):c.46C>T (p.Leu16=)
NM_002180.3(IGHMBP2):c.480T>C (p.Ser160=)
NM_002180.3(IGHMBP2):c.486A>G (p.Pro162=)
NM_002180.3(IGHMBP2):c.489C>T (p.Ala163=) rs1858295479
NM_002180.3(IGHMBP2):c.498C>G (p.Leu166=)
NM_002180.3(IGHMBP2):c.498C>T (p.Leu166=)
NM_002180.3(IGHMBP2):c.516C>A (p.Gly172=)
NM_002180.3(IGHMBP2):c.516C>T (p.Gly172=)
NM_002180.3(IGHMBP2):c.531T>C (p.Ser177=) rs779086573
NM_002180.3(IGHMBP2):c.547+11C>T
NM_002180.3(IGHMBP2):c.547+15G>A
NM_002180.3(IGHMBP2):c.547+19T>C
NM_002180.3(IGHMBP2):c.547+20C>G
NM_002180.3(IGHMBP2):c.547+20C>T
NM_002180.3(IGHMBP2):c.548-12C>T rs1858429648
NM_002180.3(IGHMBP2):c.548-13G>A
NM_002180.3(IGHMBP2):c.548-9C>T
NM_002180.3(IGHMBP2):c.552G>A (p.Pro184=) rs755103682
NM_002180.3(IGHMBP2):c.552G>T (p.Pro184=)
NM_002180.3(IGHMBP2):c.553C>T (p.Leu185=)
NM_002180.3(IGHMBP2):c.574C>T (p.Leu192=)
NM_002180.3(IGHMBP2):c.582C>A (p.Thr194=)
NM_002180.3(IGHMBP2):c.588G>A (p.Gln196=)
NM_002180.3(IGHMBP2):c.612G>A (p.Leu204=)
NM_002180.3(IGHMBP2):c.612G>C (p.Leu204=)
NM_002180.3(IGHMBP2):c.633C>T (p.Ile211=)
NM_002180.3(IGHMBP2):c.636C>A (p.Ile212=)
NM_002180.3(IGHMBP2):c.711+12A>C rs2154006952
NM_002180.3(IGHMBP2):c.711+15C>T rs963088351
NM_002180.3(IGHMBP2):c.711+16C>T
NM_002180.3(IGHMBP2):c.711+17A>G
NM_002180.3(IGHMBP2):c.712-10C>T
NM_002180.3(IGHMBP2):c.712-13T>C
NM_002180.3(IGHMBP2):c.712-18C>T
NM_002180.3(IGHMBP2):c.712-5C>T
NM_002180.3(IGHMBP2):c.712-9G>C
NM_002180.3(IGHMBP2):c.717G>A (p.Leu239=)
NM_002180.3(IGHMBP2):c.720C>T (p.Cys240=)
NM_002180.3(IGHMBP2):c.723C>T (p.Cys241=)
NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=) rs76690064
NM_002180.3(IGHMBP2):c.729C>T (p.Pro243=)
NM_002180.3(IGHMBP2):c.72G>A (p.Glu24=)
NM_002180.3(IGHMBP2):c.738C>T (p.Ile246=)
NM_002180.3(IGHMBP2):c.756G>A (p.Val252=)
NM_002180.3(IGHMBP2):c.759G>A (p.Glu253=)
NM_002180.3(IGHMBP2):c.792C>G (p.Arg264=)
NM_002180.3(IGHMBP2):c.813C>A (p.Leu271=) rs199619824
NM_002180.3(IGHMBP2):c.813C>G (p.Leu271=)
NM_002180.3(IGHMBP2):c.81G>A (p.Glu27=)
NM_002180.3(IGHMBP2):c.838C>T (p.Leu280=) rs2154007218
NM_002180.3(IGHMBP2):c.846G>A (p.Ala282=)
NM_002180.3(IGHMBP2):c.849T>C (p.Val283=)
NM_002180.3(IGHMBP2):c.850T>C (p.Leu284=)
NM_002180.3(IGHMBP2):c.855G>T (p.Ala285=)
NM_002180.3(IGHMBP2):c.86+19G>T
NM_002180.3(IGHMBP2):c.86+7G>A
NM_002180.3(IGHMBP2):c.86+9G>A
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287
NM_002180.3(IGHMBP2):c.861C>T (p.Ser287=) rs564645287
NM_002180.3(IGHMBP2):c.867T>C (p.Ser289=)
NM_002180.3(IGHMBP2):c.87-11G>A
NM_002180.3(IGHMBP2):c.87-11G>C
NM_002180.3(IGHMBP2):c.87-12G>A
NM_002180.3(IGHMBP2):c.87-13G>C
NM_002180.3(IGHMBP2):c.87-14C>G
NM_002180.3(IGHMBP2):c.87-18A>G
NM_002180.3(IGHMBP2):c.87-20C>A
NM_002180.3(IGHMBP2):c.87-9G>A
NM_002180.3(IGHMBP2):c.870C>G (p.Ala290=)
NM_002180.3(IGHMBP2):c.879T>C (p.Val293=)
NM_002180.3(IGHMBP2):c.900C>T (p.Ile300=)
NM_002180.3(IGHMBP2):c.912+10A>G
NM_002180.3(IGHMBP2):c.912+11T>C
NM_002180.3(IGHMBP2):c.912+13G>A
NM_002180.3(IGHMBP2):c.912+15C>G
NM_002180.3(IGHMBP2):c.912+18T>C
NM_002180.3(IGHMBP2):c.913-10T>C
NM_002180.3(IGHMBP2):c.913-12T>A
NM_002180.3(IGHMBP2):c.913-19C>G
NM_002180.3(IGHMBP2):c.913-6T>A rs2154007472
NM_002180.3(IGHMBP2):c.913-8C>G
NM_002180.3(IGHMBP2):c.915G>C (p.Val305=)
NM_002180.3(IGHMBP2):c.927G>A (p.Lys309=) rs1858724192
NM_002180.3(IGHMBP2):c.987A>G (p.Glu329=)
NM_002180.3(IGHMBP2):c.993G>A (p.Lys331=) rs1594431729
NM_002180.3(IGHMBP2):c.996G>A (p.Glu332=)
NM_003334.4(UBA1):c.1038A>G (p.Pro346=) rs1936453717
NM_003334.4(UBA1):c.1041T>A (p.Pro347=) rs2147259947
NM_003334.4(UBA1):c.1056+14C>T
NM_003334.4(UBA1):c.1056+20A>G
NM_003334.4(UBA1):c.1057-19G>T
NM_003334.4(UBA1):c.1057-6C>T
NM_003334.4(UBA1):c.105G>A (p.Ser35=) rs782781187
NM_003334.4(UBA1):c.118-10C>G
NM_003334.4(UBA1):c.1194C>T (p.Asn398=) rs782489931
NM_003334.4(UBA1):c.1218C>T (p.Ala406=) rs2147261112
NM_003334.4(UBA1):c.1233+15G>A
NM_003334.4(UBA1):c.1234-14C>T
NM_003334.4(UBA1):c.1234-18C>T
NM_003334.4(UBA1):c.1234-19_1234-16del
NM_003334.4(UBA1):c.1257C>T (p.Pro419=)
NM_003334.4(UBA1):c.1278T>C (p.Phe426=)
NM_003334.4(UBA1):c.1281T>C (p.Asp427=) rs2147261868
NM_003334.4(UBA1):c.1308A>G (p.Lys436=)
NM_003334.4(UBA1):c.1335C>T (p.Leu445=)
NM_003334.4(UBA1):c.1338+15C>T
NM_003334.4(UBA1):c.1339-17C>T
NM_003334.4(UBA1):c.1368T>C (p.Ala456=)
NM_003334.4(UBA1):c.1377C>T (p.Gly459=) rs2147262470
NM_003334.4(UBA1):c.1389A>G (p.Gln463=)
NM_003334.4(UBA1):c.1392G>A (p.Glu464=)
NM_003334.4(UBA1):c.1420-18T>C rs372944361
NM_003334.4(UBA1):c.1420-18T>G rs372944361
NM_003334.4(UBA1):c.1420-5C>T
NM_003334.4(UBA1):c.1420-6T>G
NM_003334.4(UBA1):c.1533A>G (p.Ser511=) rs2147263778
NM_003334.4(UBA1):c.153C>T (p.Asp51=)
NM_003334.4(UBA1):c.1557C>T (p.Phe519=)
NM_003334.4(UBA1):c.1569T>C (p.Asp523=) rs1602635564
NM_003334.4(UBA1):c.1575+9G>C
NM_003334.4(UBA1):c.1668G>A (p.Thr556=)
NM_003334.4(UBA1):c.1686C>T (p.Asp562=)
NM_003334.4(UBA1):c.1741+20A>G
NM_003334.4(UBA1):c.1742-19C>T
NM_003334.4(UBA1):c.1800A>G (p.Thr600=) rs1233003223
NM_003334.4(UBA1):c.1842G>C (p.Leu614=)
NM_003334.4(UBA1):c.1920C>T (p.Ala640=)
NM_003334.4(UBA1):c.1923C>T (p.Ile641=)
NM_003334.4(UBA1):c.1939-10C>G
NM_003334.4(UBA1):c.1939-11_1939-3del rs1936835385
NM_003334.4(UBA1):c.1939-18T>C
NM_003334.4(UBA1):c.1995G>A (p.Gln665=)
NM_003334.4(UBA1):c.2003+11C>T
NM_003334.4(UBA1):c.2003+22_2003+23del rs782114592
NM_003334.4(UBA1):c.2004-6T>C
NM_003334.4(UBA1):c.2094G>A (p.Gln698=) rs1556792871
NM_003334.4(UBA1):c.2106C>G (p.Thr702=) rs1936856451
NM_003334.4(UBA1):c.2124C>T (p.Thr708=) rs2147287638
NM_003334.4(UBA1):c.2130C>A (p.Ala710=) rs782185391
NM_003334.4(UBA1):c.2169G>T (p.Arg723=)
NM_003334.4(UBA1):c.2199+17G>C
NM_003334.4(UBA1):c.2199+8C>T
NM_003334.4(UBA1):c.2200-8T>A
NM_003334.4(UBA1):c.2247A>C (p.Pro749=)
NM_003334.4(UBA1):c.2247A>G (p.Pro749=)
NM_003334.4(UBA1):c.2250C>T (p.His750=)
NM_003334.4(UBA1):c.2274+10C>T
NM_003334.4(UBA1):c.2274+10_2274+14del
NM_003334.4(UBA1):c.2274+14C>G
NM_003334.4(UBA1):c.2274+14C>T
NM_003334.4(UBA1):c.2340C>T (p.Gly780=)
NM_003334.4(UBA1):c.2424T>C (p.His808=) rs1936899956
NM_003334.4(UBA1):c.2433C>T (p.Asp811=)
NM_003334.4(UBA1):c.2439G>A (p.Glu813=)
NM_003334.4(UBA1):c.2465-11T>C
NM_003334.4(UBA1):c.2465-5T>C
NM_003334.4(UBA1):c.246C>T (p.Gly82=) rs782336458
NM_003334.4(UBA1):c.2484G>A (p.Glu828=)
NM_003334.4(UBA1):c.2554-6T>A
NM_003334.4(UBA1):c.2554-6_2554-5del
NM_003334.4(UBA1):c.2595A>T (p.Ala865=) rs139492208
NM_003334.4(UBA1):c.2604C>G (p.Leu868=)
NM_003334.4(UBA1):c.2631T>C (p.Ser877=)
NM_003334.4(UBA1):c.2646+11T>C rs367788670
NM_003334.4(UBA1):c.2646+19_2646+20del
NM_003334.4(UBA1):c.2647-9_2647-6del rs1173482035
NM_003334.4(UBA1):c.264T>C (p.Ala88=)
NM_003334.4(UBA1):c.2679C>A (p.Ala893=)
NM_003334.4(UBA1):c.2685C>T (p.Ala895=)
NM_003334.4(UBA1):c.2700C>T (p.Ala900=)
NM_003334.4(UBA1):c.2745G>T (p.Gly915=) rs2147297953
NM_003334.4(UBA1):c.2778C>T (p.Phe926=) rs2147298051
NM_003334.4(UBA1):c.2793G>A (p.Leu931=) rs782340410
NM_003334.4(UBA1):c.2838+15C>T
NM_003334.4(UBA1):c.2838+16C>T
NM_003334.4(UBA1):c.2839-20C>A
NM_003334.4(UBA1):c.2839-4G>A
NM_003334.4(UBA1):c.2839-4G>T
NM_003334.4(UBA1):c.2841C>T (p.Tyr947=)
NM_003334.4(UBA1):c.2859A>G (p.Thr953=)
NM_003334.4(UBA1):c.2889G>T (p.Leu963=) rs2147303075
NM_003334.4(UBA1):c.2892G>A (p.Gln964=)
NM_003334.4(UBA1):c.2964C>G (p.Thr988=)
NM_003334.4(UBA1):c.2968C>T (p.Leu990=)
NM_003334.4(UBA1):c.3042-10C>T
NM_003334.4(UBA1):c.3090C>T (p.His1030=)
NM_003334.4(UBA1):c.3135C>A (p.Gly1045=) rs2147305266
NM_003334.4(UBA1):c.3138G>A (p.Glu1046=) rs2147305287
NM_003334.4(UBA1):c.3144C>T (p.Val1048=)
NM_003334.4(UBA1):c.345+11C>T
NM_003334.4(UBA1):c.345+20T>C
NM_003334.4(UBA1):c.345+20_345+23del
NM_003334.4(UBA1):c.345+29_345+36del
NM_003334.4(UBA1):c.346-16C>T
NM_003334.4(UBA1):c.346-4dup
NM_003334.4(UBA1):c.369C>T (p.Ile123=) rs200892576
NM_003334.4(UBA1):c.384C>G (p.Ala128=) rs782618684
NM_003334.4(UBA1):c.384C>T (p.Ala128=)
NM_003334.4(UBA1):c.405C>T (p.Leu135=)
NM_003334.4(UBA1):c.432C>T (p.Val144=)
NM_003334.4(UBA1):c.480+9G>A
NM_003334.4(UBA1):c.481-13C>T
NM_003334.4(UBA1):c.486G>C (p.Val162=)
NM_003334.4(UBA1):c.501C>T (p.Thr167=) rs782020007
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)
NM_003334.4(UBA1):c.540C>T (p.His180=) rs1602629095
NM_003334.4(UBA1):c.574C>A (p.Arg192=) rs185589110
NM_003334.4(UBA1):c.57G>A (p.Pro19=)
NM_003334.4(UBA1):c.588-13C>T
NM_003334.4(UBA1):c.588-20C>T
NM_003334.4(UBA1):c.588-4A>C
NM_003334.4(UBA1):c.588-7T>C rs1428822064
NM_003334.4(UBA1):c.636T>C (p.Asn212=)
NM_003334.4(UBA1):c.678+10C>T
NM_003334.4(UBA1):c.679-16C>G
NM_003334.4(UBA1):c.72C>T (p.Ser24=)
NM_003334.4(UBA1):c.750T>C (p.Phe250=) rs1936417887
NM_003334.4(UBA1):c.75T>G (p.Pro25=)
NM_003334.4(UBA1):c.786T>C (p.Asn262=)
NM_003334.4(UBA1):c.811+15T>C
NM_003334.4(UBA1):c.811+17G>A
NM_003334.4(UBA1):c.811+18G>C rs2147257670
NM_003334.4(UBA1):c.812-14C>G
NM_003334.4(UBA1):c.812-4G>T
NM_003334.4(UBA1):c.822C>T (p.Thr274=)
NM_003334.4(UBA1):c.840C>G (p.Thr280=)
NM_003334.4(UBA1):c.840C>T (p.Thr280=) rs1936439884
NM_003334.4(UBA1):c.843C>G (p.Ser281=)
NM_003334.4(UBA1):c.846C>T (p.Asn282=)
NM_003334.4(UBA1):c.84C>G (p.Ser28=)
NM_003334.4(UBA1):c.84C>T (p.Ser28=) rs782656395
NM_003334.4(UBA1):c.909+11C>T
NM_003334.4(UBA1):c.909+9G>T
NM_003334.4(UBA1):c.910-14T>C rs782428315
NM_003384.3(VRK1):c.-5-146A>G
NM_003384.3(VRK1):c.1038T>C (p.Asn346=) rs2139815079
NM_003384.3(VRK1):c.1056A>G (p.Lys352=) rs2139815109
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del) rs794727029
NM_003384.3(VRK1):c.1059A>C (p.Thr353=) rs1226336700
NM_003384.3(VRK1):c.105G>A (p.Lys35=)
NM_003384.3(VRK1):c.1068+10G>A
NM_003384.3(VRK1):c.1068+17_1068+21del
NM_003384.3(VRK1):c.1068+20T>C
NM_003384.3(VRK1):c.1068+20T>G
NM_003384.3(VRK1):c.1068+9T>C
NM_003384.3(VRK1):c.1069-10T>G
NM_003384.3(VRK1):c.1069-12T>G
NM_003384.3(VRK1):c.1069-15A>C
NM_003384.3(VRK1):c.1069-17T>C
NM_003384.3(VRK1):c.1069-17T>G
NM_003384.3(VRK1):c.1069-19_1069-16del
NM_003384.3(VRK1):c.1069-6T>C rs1889016062
NM_003384.3(VRK1):c.1069-9A>T
NM_003384.3(VRK1):c.1072C>A (p.Arg358=)
NM_003384.3(VRK1):c.1083A>G (p.Glu361=)
NM_003384.3(VRK1):c.1086T>C (p.Ile362=) rs2139845833
NM_003384.3(VRK1):c.1119G>A (p.Thr373=) rs777515325
NM_003384.3(VRK1):c.1122A>G (p.Glu374=)
NM_003384.3(VRK1):c.1134A>G (p.Thr378=)
NM_003384.3(VRK1):c.1146G>A (p.Glu382=) rs1889020417
NM_003384.3(VRK1):c.1149C>T (p.Ala383=) rs1257711610
NM_003384.3(VRK1):c.1159+10A>G rs756764690
NM_003384.3(VRK1):c.1159+11C>T
NM_003384.3(VRK1):c.1159+18G>T
NM_003384.3(VRK1):c.1160-14G>C
NM_003384.3(VRK1):c.1160-4C>G
NM_003384.3(VRK1):c.1160-4C>T
NM_003384.3(VRK1):c.1160-5T>C rs2139857584
NM_003384.3(VRK1):c.1160-7C>T rs1251234541
NM_003384.3(VRK1):c.1160-7del
NM_003384.3(VRK1):c.1161T>C (p.Arg387=) rs1196862965
NM_003384.3(VRK1):c.1161T>G (p.Arg387=)
NM_003384.3(VRK1):c.1176G>A (p.Lys392=)
NM_003384.3(VRK1):c.120A>G (p.Gly40=)
NM_003384.3(VRK1):c.12A>T (p.Val4=)
NM_003384.3(VRK1):c.135A>G (p.Gln45=) rs1595660598
NM_003384.3(VRK1):c.138A>G (p.Gly46=)
NM_003384.3(VRK1):c.150T>C (p.Cys50=) rs747562164
NM_003384.3(VRK1):c.160+18T>G
NM_003384.3(VRK1):c.161-10T>C
NM_003384.3(VRK1):c.161-6A>T
NM_003384.3(VRK1):c.183A>G (p.Ser61=)
NM_003384.3(VRK1):c.216+9T>C
NM_003384.3(VRK1):c.217-10A>G rs2139778948
NM_003384.3(VRK1):c.217-10dup
NM_003384.3(VRK1):c.217-12T>C
NM_003384.3(VRK1):c.217-14T>C
NM_003384.3(VRK1):c.217-7T>C rs2139778978
NM_003384.3(VRK1):c.217-8_217-7del
NM_003384.3(VRK1):c.217-9T>C rs529433051
NM_003384.3(VRK1):c.217-9del rs2139778965
NM_003384.3(VRK1):c.219A>G (p.Glu73=)
NM_003384.3(VRK1):c.21T>C (p.Ala7=)
NM_003384.3(VRK1):c.222C>T (p.Pro74=)
NM_003384.3(VRK1):c.228C>T (p.Asp76=)
NM_003384.3(VRK1):c.237T>G (p.Pro79=)
NM_003384.3(VRK1):c.252A>G (p.Leu84=)
NM_003384.3(VRK1):c.261C>T (p.Tyr87=) rs748309797
NM_003384.3(VRK1):c.270T>C (p.Ala90=)
NM_003384.3(VRK1):c.286+11C>A
NM_003384.3(VRK1):c.286+11C>T
NM_003384.3(VRK1):c.286+15A>G
NM_003384.3(VRK1):c.287-11T>C
NM_003384.3(VRK1):c.287-4G>A rs1395180911
NM_003384.3(VRK1):c.287-4G>T rs1395180911
NM_003384.3(VRK1):c.287-7T>C
NM_003384.3(VRK1):c.287-8_287-7delinsTA rs1064795545
NM_003384.3(VRK1):c.287-9A>C
NM_003384.3(VRK1):c.306C>G (p.Thr102=) rs1326352230
NM_003384.3(VRK1):c.312G>A (p.Lys104=) rs1269621133
NM_003384.3(VRK1):c.327T>A (p.Gly109=)
NM_003384.3(VRK1):c.330T>C (p.Val110=)
NM_003384.3(VRK1):c.339T>C (p.Tyr113=)
NM_003384.3(VRK1):c.354A>G (p.Leu118=)
NM_003384.3(VRK1):c.374+15G>C
NM_003384.3(VRK1):c.374+7A>C
NM_003384.3(VRK1):c.374+7A>T
NM_003384.3(VRK1):c.375-10T>C rs2139795498
NM_003384.3(VRK1):c.375-12A>G
NM_003384.3(VRK1):c.375-19T>C
NM_003384.3(VRK1):c.375-4T>C
NM_003384.3(VRK1):c.378C>T (p.Tyr126=) rs1344283744
NM_003384.3(VRK1):c.381G>A (p.Arg127=) rs2139795531
NM_003384.3(VRK1):c.396T>C (p.Asp132=) rs2139795583
NM_003384.3(VRK1):c.399C>T (p.Arg133=)
NM_003384.3(VRK1):c.426T>C (p.Tyr142=) rs2139795639
NM_003384.3(VRK1):c.444G>A (p.Arg148=)
NM_003384.3(VRK1):c.456A>G (p.Lys152=) rs2139795727
NM_003384.3(VRK1):c.459T>C (p.Thr153=) rs145911601
NM_003384.3(VRK1):c.462C>A (p.Val154=) rs757654085
NM_003384.3(VRK1):c.471A>C (p.Leu157=) rs2139795805
NM_003384.3(VRK1):c.474C>T (p.Ser158=) rs2139795825
NM_003384.3(VRK1):c.483+10_483+23del rs1888009081
NM_003384.3(VRK1):c.483+12A>G
NM_003384.3(VRK1):c.483+15T>A
NM_003384.3(VRK1):c.483+17C>G
NM_003384.3(VRK1):c.483+20dup
NM_003384.3(VRK1):c.483+8A>G rs2139795917
NM_003384.3(VRK1):c.484-15A>T
NM_003384.3(VRK1):c.484-16T>C
NM_003384.3(VRK1):c.484-18T>C
NM_003384.3(VRK1):c.484-18T>G
NM_003384.3(VRK1):c.484-5C>T
NM_003384.3(VRK1):c.484-6T>G
NM_003384.3(VRK1):c.484-6dup rs2139796250
NM_003384.3(VRK1):c.495G>C (p.Leu165=) rs2139796298
NM_003384.3(VRK1):c.513T>C (p.His171=) rs2139796362
NM_003384.3(VRK1):c.516G>A (p.Glu172=) rs2139796370
NM_003384.3(VRK1):c.534C>T (p.Ile178=)
NM_003384.3(VRK1):c.537G>A (p.Lys179=) rs1888016926
NM_003384.3(VRK1):c.549T>C (p.Leu183=) rs1888017489
NM_003384.3(VRK1):c.555G>C (p.Leu185=) rs2139796508
NM_003384.3(VRK1):c.561C>T (p.Tyr187=) rs2139796518
NM_003384.3(VRK1):c.576+11A>G
NM_003384.3(VRK1):c.576+18A>G
NM_003384.3(VRK1):c.577-11del
NM_003384.3(VRK1):c.577-16G>C
NM_003384.3(VRK1):c.577-18G>A
NM_003384.3(VRK1):c.577-18G>T
NM_003384.3(VRK1):c.577-18del rs759260596
NM_003384.3(VRK1):c.577-5T>C
NM_003384.3(VRK1):c.57T>C (p.Leu19=) rs2139748645
NM_003384.3(VRK1):c.582C>T (p.Tyr194=)
NM_003384.3(VRK1):c.588A>G (p.Val196=) rs1387075963
NM_003384.3(VRK1):c.591T>C (p.Asp197=)
NM_003384.3(VRK1):c.600T>C (p.Leu200=)
NM_003384.3(VRK1):c.603T>G (p.Ala201=) rs1157448476
NM_003384.3(VRK1):c.609G>A (p.Arg203=)
NM_003384.3(VRK1):c.609G>C (p.Arg203=) rs1298227038
NM_003384.3(VRK1):c.615C>T (p.Cys205=) rs772730428
NM_003384.3(VRK1):c.636A>G (p.Glu212=) rs776975502
NM_003384.3(VRK1):c.648C>T (p.Asp216=) rs765348075
NM_003384.3(VRK1):c.651C>G (p.Pro217=) rs2139801938
NM_003384.3(VRK1):c.651C>T (p.Pro217=) rs2139801938
NM_003384.3(VRK1):c.654A>G (p.Lys218=)
NM_003384.3(VRK1):c.660T>C (p.Cys220=) rs762979613
NM_003384.3(VRK1):c.669C>T (p.Gly223=)
NM_003384.3(VRK1):c.672T>A (p.Thr224=)
NM_003384.3(VRK1):c.684G>A (p.Thr228=) rs753585913
NM_003384.3(VRK1):c.684G>C (p.Thr228=)
NM_003384.3(VRK1):c.690C>T (p.Ile230=) rs747694940
NM_003384.3(VRK1):c.705C>G (p.Gly235=) rs2230532
NM_003384.3(VRK1):c.709+12G>A
NM_003384.3(VRK1):c.709+13T>A
NM_003384.3(VRK1):c.709+14A>G
NM_003384.3(VRK1):c.709+17G>A
NM_003384.3(VRK1):c.709+18G>T
NM_003384.3(VRK1):c.709+7_709+12dup
NM_003384.3(VRK1):c.709+8A>G
NM_003384.3(VRK1):c.710-13C>G
NM_003384.3(VRK1):c.710-15C>G rs757988438
NM_003384.3(VRK1):c.710-8A>G rs781693457
NM_003384.3(VRK1):c.710-9C>T
NM_003384.3(VRK1):c.711C>T (p.Ala237=) rs2139803845
NM_003384.3(VRK1):c.729T>C (p.Asp243=)
NM_003384.3(VRK1):c.72A>G (p.Ala24=)
NM_003384.3(VRK1):c.747T>C (p.Tyr249=)
NM_003384.3(VRK1):c.768T>C (p.Thr256=) rs2139804008
NM_003384.3(VRK1):c.780T>G (p.Pro260=)
NM_003384.3(VRK1):c.804T>C (p.Pro268=)
NM_003384.3(VRK1):c.804T>G (p.Pro268=)
NM_003384.3(VRK1):c.822C>T (p.Ser274=)
NM_003384.3(VRK1):c.830+12C>T
NM_003384.3(VRK1):c.830+16_830+20del
NM_003384.3(VRK1):c.830+7G>A rs2139804244
NM_003384.3(VRK1):c.830+9A>G rs2139804260
NM_003384.3(VRK1):c.831-12A>T
NM_003384.3(VRK1):c.831-16C>T
NM_003384.3(VRK1):c.831-9T>C rs2139804862
NM_003384.3(VRK1):c.837A>G (p.Arg279=)
NM_003384.3(VRK1):c.864A>G (p.Lys288=) rs1744342065
NM_003384.3(VRK1):c.889+10G>A
NM_003384.3(VRK1):c.889+10G>T rs1456272984
NM_003384.3(VRK1):c.889+11A>G
NM_003384.3(VRK1):c.889+14T>C
NM_003384.3(VRK1):c.889+15C>T
NM_003384.3(VRK1):c.889+18C>T
NM_003384.3(VRK1):c.889+19A>C
NM_003384.3(VRK1):c.889+20G>C rs1347150139
NM_003384.3(VRK1):c.889+20G>T rs1347150139
NM_003384.3(VRK1):c.889+8A>G
NM_003384.3(VRK1):c.889+9T>C rs1257886278
NM_003384.3(VRK1):c.890-10A>G
NM_003384.3(VRK1):c.890-15G>A
NM_003384.3(VRK1):c.890-19G>A
NM_003384.3(VRK1):c.890-19G>C
NM_003384.3(VRK1):c.890-22_890-15del
NM_003384.3(VRK1):c.890-4T>C rs2139814659
NM_003384.3(VRK1):c.894A>G (p.Glu298=)
NM_003384.3(VRK1):c.897T>C (p.Ile299=)
NM_003384.3(VRK1):c.903A>G (p.Lys301=)
NM_003384.3(VRK1):c.915A>G (p.Thr305=) rs1481654179
NM_003384.3(VRK1):c.933C>T (p.Tyr311=)
NM_003384.3(VRK1):c.948T>C (p.Leu316=)
NM_003384.3(VRK1):c.948T>G (p.Leu316=)
NM_003384.3(VRK1):c.969T>C (p.Ile323=)
NM_003384.3(VRK1):c.972T>C (p.Leu324=) rs2139814880
NM_003384.3(VRK1):c.972T>G (p.Leu324=)
NM_003384.3(VRK1):c.984A>G (p.Leu328=) rs765633672
NM_003384.3(VRK1):c.9T>G (p.Arg3=) rs771646609
NM_004082.5(DCTN1):c.1008T>C (p.Thr336=)
NM_004082.5(DCTN1):c.1015T>C (p.Leu339=)
NM_004082.5(DCTN1):c.1023C>T (p.Ile341=) rs1211302208
NM_004082.5(DCTN1):c.1026C>T (p.Leu342=)
NM_004082.5(DCTN1):c.1048+10C>T rs2103659237
NM_004082.5(DCTN1):c.1048+17T>C
NM_004082.5(DCTN1):c.1048+20T>A rs1674765824
NM_004082.5(DCTN1):c.1048+8G>A rs1335279632
NM_004082.5(DCTN1):c.1049-13_1049-12del
NM_004082.5(DCTN1):c.1062T>C (p.Ala354=)
NM_004082.5(DCTN1):c.1125G>T (p.Val375=)
NM_004082.5(DCTN1):c.1127+14T>C
NM_004082.5(DCTN1):c.1127+16C>T
NM_004082.5(DCTN1):c.1127+8C>G rs2103657565
NM_004082.5(DCTN1):c.1128-10A>G
NM_004082.5(DCTN1):c.1128-13C>G
NM_004082.5(DCTN1):c.1128-13C>T
NM_004082.5(DCTN1):c.1128-15C>G
NM_004082.5(DCTN1):c.1128-16C>T rs2103656711
NM_004082.5(DCTN1):c.1128-19C>G
NM_004082.5(DCTN1):c.1128-6C>G
NM_004082.5(DCTN1):c.1140T>G (p.Leu380=) rs886056332
NM_004082.5(DCTN1):c.1161G>A (p.Glu387=) rs72659373
NM_004082.5(DCTN1):c.1170G>A (p.Lys390=) rs1674741348
NM_004082.5(DCTN1):c.1200A>G (p.Gln400=)
NM_004082.5(DCTN1):c.1221A>G (p.Gln407=)
NM_004082.5(DCTN1):c.1227G>C (p.Arg409=) rs2103655320
NM_004082.5(DCTN1):c.1232G>A (p.Arg411His)
NM_004082.5(DCTN1):c.1248A>G (p.Leu416=) rs2103655091
NM_004082.5(DCTN1):c.1251C>T (p.Ser417=) rs1553465163
NM_004082.5(DCTN1):c.1284G>A (p.Glu428=)
NM_004082.5(DCTN1):c.1287+12C>T
NM_004082.5(DCTN1):c.1288-12C>T
NM_004082.5(DCTN1):c.1288-19T>C rs2103653681
NM_004082.5(DCTN1):c.1288-20C>T
NM_004082.5(DCTN1):c.129T>C (p.Thr43=)
NM_004082.5(DCTN1):c.1335T>C (p.Asp445=)
NM_004082.5(DCTN1):c.1356G>A (p.Glu452=)
NM_004082.5(DCTN1):c.1392+12G>A
NM_004082.5(DCTN1):c.1392+13C>T rs2103652491
NM_004082.5(DCTN1):c.1392+7G>A
NM_004082.5(DCTN1):c.1392+8_1392+9del rs1573161311
NM_004082.5(DCTN1):c.1393-17A>G
NM_004082.5(DCTN1):c.1393-17_1393-16del
NM_004082.5(DCTN1):c.1393-4C>T
NM_004082.5(DCTN1):c.1393-4del
NM_004082.5(DCTN1):c.1393-7G>A rs886056330
NM_004082.5(DCTN1):c.1393-9_1393-7del rs1452712153
NM_004082.5(DCTN1):c.1398G>C (p.Ala466=)
NM_004082.5(DCTN1):c.1425G>A (p.Gln475=)
NM_004082.5(DCTN1):c.1461G>A (p.Glu487=) rs758555575
NM_004082.5(DCTN1):c.150A>G (p.Thr50=) rs1295226562
NM_004082.5(DCTN1):c.153G>C (p.Leu51=) rs765144648
NM_004082.5(DCTN1):c.1542G>A (p.Gln514=) rs2103646064
NM_004082.5(DCTN1):c.1548C>T (p.Thr516=)
NM_004082.5(DCTN1):c.1560C>T (p.Tyr520=)
NM_004082.5(DCTN1):c.1572C>T (p.Thr524=)
NM_004082.5(DCTN1):c.1581A>G (p.Leu527=)
NM_004082.5(DCTN1):c.1584+12C>T
NM_004082.5(DCTN1):c.1584+18G>A
NM_004082.5(DCTN1):c.1584+19C>A
NM_004082.5(DCTN1):c.1584+20T>C rs1441516485
NM_004082.5(DCTN1):c.1584+9C>T rs751116557
NM_004082.5(DCTN1):c.1585-11T>C rs2103645005
NM_004082.5(DCTN1):c.1585-12C>T
NM_004082.5(DCTN1):c.1585-13TC[2] rs777190760
NM_004082.5(DCTN1):c.1585-14G>C
NM_004082.5(DCTN1):c.1585-17A>G
NM_004082.5(DCTN1):c.1585-20T>C
NM_004082.5(DCTN1):c.1585-4C>G
NM_004082.5(DCTN1):c.1585-6T>C rs2103644864
NM_004082.5(DCTN1):c.1602G>C (p.Leu534=)
NM_004082.5(DCTN1):c.1626G>A (p.Val542=) rs2103644312
NM_004082.5(DCTN1):c.1629G>A (p.Glu543=)
NM_004082.5(DCTN1):c.1635A>G (p.Gln545=)
NM_004082.5(DCTN1):c.1659T>C (p.Phe553=)
NM_004082.5(DCTN1):c.165C>G (p.Gly55=)
NM_004082.5(DCTN1):c.1662C>T (p.Asp554=) rs188566922
NM_004082.5(DCTN1):c.1671C>T (p.Ile557=)
NM_004082.5(DCTN1):c.1683G>A (p.Glu561=) rs1573158885
NM_004082.5(DCTN1):c.1701+10G>C rs2103643570
NM_004082.5(DCTN1):c.1702-19C>T
NM_004082.5(DCTN1):c.1702-20C>T
NM_004082.5(DCTN1):c.1702-7C>G
NM_004082.5(DCTN1):c.1707T>C (p.Ile569=) rs765410716
NM_004082.5(DCTN1):c.1758C>A (p.Ser586=) rs773517017
NM_004082.5(DCTN1):c.1761G>C (p.Leu587=)
NM_004082.5(DCTN1):c.1827G>A (p.Leu609=)
NM_004082.5(DCTN1):c.1854+10A>G
NM_004082.5(DCTN1):c.1854+18C>T
NM_004082.5(DCTN1):c.1854+9A>G
NM_004082.5(DCTN1):c.1855-16G>A
NM_004082.5(DCTN1):c.1855-20C>T
NM_004082.5(DCTN1):c.1855-7C>T rs2103634309
NM_004082.5(DCTN1):c.1863G>C (p.Leu621=) rs2103634135
NM_004082.5(DCTN1):c.1867C>A (p.Arg623=) rs764568642
NM_004082.5(DCTN1):c.18G>A (p.Arg6=)
NM_004082.5(DCTN1):c.1902G>A (p.Glu634=)
NM_004082.5(DCTN1):c.1983C>T (p.Ser661=)
NM_004082.5(DCTN1):c.1986G>A (p.Leu662=) rs1409478361
NM_004082.5(DCTN1):c.1995C>A (p.Ala665=) rs767698839
NM_004082.5(DCTN1):c.2004C>T (p.His668=)
NM_004082.5(DCTN1):c.2015+17del
NM_004082.5(DCTN1):c.2015+19C>A
NM_004082.5(DCTN1):c.2015+5G>A rs770696267
NM_004082.5(DCTN1):c.2016-12T>C
NM_004082.5(DCTN1):c.2016-6C>A rs1573155729
NM_004082.5(DCTN1):c.2031C>T (p.Cys677=) rs112930313
NM_004082.5(DCTN1):c.2034T>C (p.Ser678=)
NM_004082.5(DCTN1):c.2088G>A (p.Glu696=)
NM_004082.5(DCTN1):c.2091C>G (p.Arg697=)
NM_004082.5(DCTN1):c.2103C>T (p.Phe701=)
NM_004082.5(DCTN1):c.2121C>T (p.His707=)
NM_004082.5(DCTN1):c.2142T>C (p.Thr714=)
NM_004082.5(DCTN1):c.2154G>A (p.Glu718=)
NM_004082.5(DCTN1):c.2163C>T (p.Thr721=)
NM_004082.5(DCTN1):c.2184+16T>C
NM_004082.5(DCTN1):c.2184+19G>A rs1349408124
NM_004082.5(DCTN1):c.2184+20G>T
NM_004082.5(DCTN1):c.2185-15G>C
NM_004082.5(DCTN1):c.2185-17_2185-14del
NM_004082.5(DCTN1):c.2185-6C>T
NM_004082.5(DCTN1):c.2202C>T (p.His734=) rs2103626323
NM_004082.5(DCTN1):c.2206G>A (p.Ala736Thr)
NM_004082.5(DCTN1):c.2208C>G (p.Ala736=)
NM_004082.5(DCTN1):c.2217T>G (p.Pro739=) rs1553464448
NM_004082.5(DCTN1):c.2238G>A (p.Leu746=) rs1553464441
NM_004082.5(DCTN1):c.2241T>C (p.Ala747=)
NM_004082.5(DCTN1):c.2253+13G>A
NM_004082.5(DCTN1):c.2253+14G>T rs2103625486
NM_004082.5(DCTN1):c.2253+16C>T
NM_004082.5(DCTN1):c.2254-18A>G
NM_004082.5(DCTN1):c.2254-8C>T rs1674478166
NM_004082.5(DCTN1):c.2259G>A (p.Thr753=)
NM_004082.5(DCTN1):c.2259G>C (p.Thr753=) rs200275059
NM_004082.5(DCTN1):c.2283T>C (p.Ser761=) rs879630850
NM_004082.5(DCTN1):c.2292A>G (p.Val764=) rs1290529283
NM_004082.5(DCTN1):c.2301G>A (p.Leu767=)
NM_004082.5(DCTN1):c.2316+15A>G
NM_004082.5(DCTN1):c.2316+19C>G
NM_004082.5(DCTN1):c.2317-15C>G
NM_004082.5(DCTN1):c.2317-16T>C rs1674462194
NM_004082.5(DCTN1):c.2317-19T>C
NM_004082.5(DCTN1):c.2317-20A>G
NM_004082.5(DCTN1):c.2317-4G>A
NM_004082.5(DCTN1):c.2317-9C>G
NM_004082.5(DCTN1):c.2317-9C>T
NM_004082.5(DCTN1):c.231G>A (p.Lys77=)
NM_004082.5(DCTN1):c.2328G>A (p.Glu776=) rs2104417915
NM_004082.5(DCTN1):c.2352C>T (p.Leu784=)
NM_004082.5(DCTN1):c.2367T>G (p.Thr789=) rs994669046
NM_004082.5(DCTN1):c.2382C>A (p.Ile794=) rs142107482
NM_004082.5(DCTN1):c.2418A>G (p.Pro806=) rs2104417117
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg) rs150928856
NM_004082.5(DCTN1):c.2442A>G (p.Pro814=) rs2104416925
NM_004082.5(DCTN1):c.2454C>G (p.Ala818=) rs766673794
NM_004082.5(DCTN1):c.2466+17G>C rs2104416659
NM_004082.5(DCTN1):c.2467-17T>C
NM_004082.5(DCTN1):c.2467-7C>G
NM_004082.5(DCTN1):c.2469A>G (p.Val823=)
NM_004082.5(DCTN1):c.2481C>T (p.Leu827=)
NM_004082.5(DCTN1):c.2496A>G (p.Lys832=)
NM_004082.5(DCTN1):c.24G>A (p.Val8=)
NM_004082.5(DCTN1):c.2520G>A (p.Val840=) rs2104415505
NM_004082.5(DCTN1):c.2556T>A (p.Ile852=)
NM_004082.5(DCTN1):c.255T>C (p.His85=)
NM_004082.5(DCTN1):c.2596C>G (p.Leu866Val)
NM_004082.5(DCTN1):c.2628+11A>G
NM_004082.5(DCTN1):c.2628+3G>A
NM_004082.5(DCTN1):c.2629-13T>C
NM_004082.5(DCTN1):c.2629-14C>T
NM_004082.5(DCTN1):c.2629-18T>C
NM_004082.5(DCTN1):c.2676A>G (p.Ser892=)
NM_004082.5(DCTN1):c.2688C>T (p.Leu896=)
NM_004082.5(DCTN1):c.2706G>A (p.Lys902=)
NM_004082.5(DCTN1):c.2754C>T (p.Pro918=)
NM_004082.5(DCTN1):c.2760+10G>C rs2104413368
NM_004082.5(DCTN1):c.2760+11A>G
NM_004082.5(DCTN1):c.2760+18T>C
NM_004082.5(DCTN1):c.2760+8G>A
NM_004082.5(DCTN1):c.2760+9A>G
NM_004082.5(DCTN1):c.2761-13_2761-10dup rs1308261864
NM_004082.5(DCTN1):c.2761-14C>T
NM_004082.5(DCTN1):c.2761-16A>C
NM_004082.5(DCTN1):c.2761-16A>G
NM_004082.5(DCTN1):c.2761-19C>T
NM_004082.5(DCTN1):c.2761-20C>G
NM_004082.5(DCTN1):c.2769G>A (p.Pro923=)
NM_004082.5(DCTN1):c.279+11C>A
NM_004082.5(DCTN1):c.279+20G>T
NM_004082.5(DCTN1):c.280-14del
NM_004082.5(DCTN1):c.280-34_280-12del rs762313810
NM_004082.5(DCTN1):c.280-5C>T rs1675307447
NM_004082.5(DCTN1):c.282C>A (p.Ile94=)
NM_004082.5(DCTN1):c.2835C>A (p.Leu945=) rs138305126
NM_004082.5(DCTN1):c.2835C>T (p.Leu945=) rs138305126
NM_004082.5(DCTN1):c.2868G>A (p.Lys956=)
NM_004082.5(DCTN1):c.2871G>A (p.Lys957=)
NM_004082.5(DCTN1):c.2886+18T>C rs1409532126
NM_004082.5(DCTN1):c.2886+19C>T rs1417650041
NM_004082.5(DCTN1):c.2887-14C>G
NM_004082.5(DCTN1):c.2887-5T>A
NM_004082.5(DCTN1):c.2887-8T>A
NM_004082.5(DCTN1):c.288A>G (p.Val96=) rs1553466396
NM_004082.5(DCTN1):c.2937G>A (p.Lys979=)
NM_004082.5(DCTN1):c.2973C>T (p.Ile991=)
NM_004082.5(DCTN1):c.2991G>C (p.Arg997=)
NM_004082.5(DCTN1):c.2992C>T (p.Leu998=)
NM_004082.5(DCTN1):c.3012G>T (p.Leu1004=)
NM_004082.5(DCTN1):c.3024G>A (p.Lys1008=)
NM_004082.5(DCTN1):c.3029+12T>G
NM_004082.5(DCTN1):c.3029+16T>C
NM_004082.5(DCTN1):c.3030-11C>A
NM_004082.5(DCTN1):c.3030-20G>A
NM_004082.5(DCTN1):c.3045A>G (p.Thr1015=)
NM_004082.5(DCTN1):c.3096A>G (p.Glu1032=)
NM_004082.5(DCTN1):c.3111G>A (p.Leu1037=)
NM_004082.5(DCTN1):c.3129C>T (p.Arg1043=) rs1354118647
NM_004082.5(DCTN1):c.3132G>A (p.Thr1044=) rs375157202
NM_004082.5(DCTN1):c.3174T>G (p.Thr1058=) rs2104406793
NM_004082.5(DCTN1):c.3177G>A (p.Leu1059=) rs1213472053
NM_004082.5(DCTN1):c.3196+16T>C rs773177686
NM_004082.5(DCTN1):c.3196+19G>A rs1371299263
NM_004082.5(DCTN1):c.3197-11C>G rs374292466
NM_004082.5(DCTN1):c.3197-16G>T
NM_004082.5(DCTN1):c.3197-19T>C rs1258376234
NM_004082.5(DCTN1):c.3197-20A>G
NM_004082.5(DCTN1):c.3197-6G>A
NM_004082.5(DCTN1):c.3197-9C>T
NM_004082.5(DCTN1):c.3211+10C>T
NM_004082.5(DCTN1):c.3211+13T>G
NM_004082.5(DCTN1):c.3211+14C>G
NM_004082.5(DCTN1):c.3211+19C>G rs377261118
NM_004082.5(DCTN1):c.3211+19C>T
NM_004082.5(DCTN1):c.3211+20G>A
NM_004082.5(DCTN1):c.3211+9C>G
NM_004082.5(DCTN1):c.3212-20A>T
NM_004082.5(DCTN1):c.3219C>T (p.Ile1073=)
NM_004082.5(DCTN1):c.3279G>T (p.Leu1093=)
NM_004082.5(DCTN1):c.3294T>C (p.Ser1098=)
NM_004082.5(DCTN1):c.33+16C>G
NM_004082.5(DCTN1):c.33+16C>T
NM_004082.5(DCTN1):c.3303G>A (p.Arg1101=)
NM_004082.5(DCTN1):c.3315C>T (p.Ser1105=)
NM_004082.5(DCTN1):c.3333C>T (p.Asn1111=)
NM_004082.5(DCTN1):c.3339C>A (p.Ile1113=)
NM_004082.5(DCTN1):c.3345+10C>T rs1558932839
NM_004082.5(DCTN1):c.3345+17G>A
NM_004082.5(DCTN1):c.3346-16C>G
NM_004082.5(DCTN1):c.3346-16_3346-14del
NM_004082.5(DCTN1):c.3346-17T>C
NM_004082.5(DCTN1):c.3346-20C>G
NM_004082.5(DCTN1):c.3375C>G (p.Ser1125=) rs921121555
NM_004082.5(DCTN1):c.3378G>A (p.Leu1126=)
NM_004082.5(DCTN1):c.34-11G>C
NM_004082.5(DCTN1):c.34-13C>A
NM_004082.5(DCTN1):c.34-20T>C
NM_004082.5(DCTN1):c.3417T>C (p.Pro1139=)
NM_004082.5(DCTN1):c.3420C>G (p.Gly1140=)
NM_004082.5(DCTN1):c.348C>G (p.Val116=)
NM_004082.5(DCTN1):c.3492A>G (p.Thr1164=) rs1197164602
NM_004082.5(DCTN1):c.3498G>T (p.Thr1166=)
NM_004082.5(DCTN1):c.3511A>G (p.Ile1171Val)
NM_004082.5(DCTN1):c.3516T>G (p.Thr1172=)
NM_004082.5(DCTN1):c.3529+13C>T rs1674126281
NM_004082.5(DCTN1):c.3529+15A>G
NM_004082.5(DCTN1):c.3529+20C>T rs890924549
NM_004082.5(DCTN1):c.3529+8C>G
NM_004082.5(DCTN1):c.3530-18A>G rs767080798
NM_004082.5(DCTN1):c.3537G>A (p.Lys1179=) rs148146325
NM_004082.5(DCTN1):c.3540C>T (p.Ser1180=)
NM_004082.5(DCTN1):c.3564A>G (p.Gln1188=) rs1674099395
NM_004082.5(DCTN1):c.358+17_358+18insGA rs2103719288
NM_004082.5(DCTN1):c.359-6C>T
NM_004082.5(DCTN1):c.3595G>A (p.Val1199Ile) rs538291598
NM_004082.5(DCTN1):c.3609+17dup
NM_004082.5(DCTN1):c.3610-10C>T
NM_004082.5(DCTN1):c.3610-16C>T
NM_004082.5(DCTN1):c.3610-17C>G rs2104390002
NM_004082.5(DCTN1):c.3610-20C>T
NM_004082.5(DCTN1):c.3610-5C>G
NM_004082.5(DCTN1):c.3610-5C>T
NM_004082.5(DCTN1):c.3645T>C (p.Pro1215=)
NM_004082.5(DCTN1):c.3684A>G (p.Ser1228=)
NM_004082.5(DCTN1):c.3693C>T (p.Phe1231=) rs1573138460
NM_004082.5(DCTN1):c.3699+11G>A
NM_004082.5(DCTN1):c.3699+18G>T
NM_004082.5(DCTN1):c.3699+18_3699+29del rs780978911
NM_004082.5(DCTN1):c.3699+8_3699+9dup
NM_004082.5(DCTN1):c.3699+9dup rs542984299
NM_004082.5(DCTN1):c.3700-14T>A
NM_004082.5(DCTN1):c.3700-18C>A
NM_004082.5(DCTN1):c.3700-18C>T
NM_004082.5(DCTN1):c.3700-20T>C
NM_004082.5(DCTN1):c.3700-4C>T rs1182597936
NM_004082.5(DCTN1):c.3700-6C>A
NM_004082.5(DCTN1):c.3700-6C>T rs371163273
NM_004082.5(DCTN1):c.3726A>T (p.Thr1242=)
NM_004082.5(DCTN1):c.3747C>G (p.Thr1249=) rs759710617
NM_004082.5(DCTN1):c.3747C>T (p.Thr1249=) rs759710617
NM_004082.5(DCTN1):c.3780C>T (p.His1260=)
NM_004082.5(DCTN1):c.3783G>T (p.Arg1261=) rs779676968
NM_004082.5(DCTN1):c.378A>G (p.Ala126=)
NM_004082.5(DCTN1):c.3799G>A (p.Glu1267Lys) rs146083590
NM_004082.5(DCTN1):c.3828C>T (p.Leu1276=) rs374006190
NM_004082.5(DCTN1):c.3834C>T (p.Ser1278=)
NM_004082.5(DCTN1):c.393+15G>A
NM_004082.5(DCTN1):c.393+15G>T rs535614130
NM_004082.5(DCTN1):c.393+18G>A
NM_004082.5(DCTN1):c.394-10C>T rs541163314
NM_004082.5(DCTN1):c.394-17dup rs771736182
NM_004082.5(DCTN1):c.394-20C>T
NM_004082.5(DCTN1):c.394-9_394-7del rs932190621
NM_004082.5(DCTN1):c.414+12A>C
NM_004082.5(DCTN1):c.415-5G>A rs2103694423
NM_004082.5(DCTN1):c.432+10C>T rs758964727
NM_004082.5(DCTN1):c.432+12T>C
NM_004082.5(DCTN1):c.432+14C>T
NM_004082.5(DCTN1):c.432+18C>A rs201820150
NM_004082.5(DCTN1):c.432+18C>T rs201820150
NM_004082.5(DCTN1):c.432+19G>A rs375037820
NM_004082.5(DCTN1):c.432+19G>C
NM_004082.5(DCTN1):c.432+19G>T
NM_004082.5(DCTN1):c.433-17T>A
NM_004082.5(DCTN1):c.433-19G>T
NM_004082.5(DCTN1):c.433-9C>T
NM_004082.5(DCTN1):c.453+14C>A
NM_004082.5(DCTN1):c.453+15C>T
NM_004082.5(DCTN1):c.454-12C>T
NM_004082.5(DCTN1):c.454-17C>T
NM_004082.5(DCTN1):c.454-7T>C rs1275843862
NM_004082.5(DCTN1):c.495C>T (p.Ser165=)
NM_004082.5(DCTN1):c.519G>A (p.Ala173=) rs376565787
NM_004082.5(DCTN1):c.528T>G (p.Gly176=)
NM_004082.5(DCTN1):c.537C>T (p.Ser179=)
NM_004082.5(DCTN1):c.540C>T (p.Ser180=)
NM_004082.5(DCTN1):c.546G>A (p.Glu182=)
NM_004082.5(DCTN1):c.549C>T (p.Pro183=)
NM_004082.5(DCTN1):c.570G>T (p.Pro190=) rs528908728
NM_004082.5(DCTN1):c.588C>T (p.Ile196=) rs761974691
NM_004082.5(DCTN1):c.594G>A (p.Thr198=)
NM_004082.5(DCTN1):c.606C>G (p.Thr202=)
NM_004082.5(DCTN1):c.627G>A (p.Pro209=) rs147673066
NM_004082.5(DCTN1):c.627G>C (p.Pro209=)
NM_004082.5(DCTN1):c.645+11G>T
NM_004082.5(DCTN1):c.645+19G>A
NM_004082.5(DCTN1):c.645+7C>T
NM_004082.5(DCTN1):c.645+8C>T rs1170361781
NM_004082.5(DCTN1):c.646-20G>A
NM_004082.5(DCTN1):c.646-9C>T rs771722291
NM_004082.5(DCTN1):c.660A>G (p.Leu220=)
NM_004082.5(DCTN1):c.663G>A (p.Arg221=) rs1573164850
NM_004082.5(DCTN1):c.69C>T (p.Ser23=)
NM_004082.5(DCTN1):c.714G>T (p.Arg238=)
NM_004082.5(DCTN1):c.786G>A (p.Lys262=) rs1573164518
NM_004082.5(DCTN1):c.79C>T (p.Leu27=)
NM_004082.5(DCTN1):c.810C>T (p.Ala270=)
NM_004082.5(DCTN1):c.843+13A>G
NM_004082.5(DCTN1):c.843+14T>G
NM_004082.5(DCTN1):c.843+18G>A
NM_004082.5(DCTN1):c.843+19G>A rs556822905
NM_004082.5(DCTN1):c.843+19G>C
NM_004082.5(DCTN1):c.843+19G>T rs556822905
NM_004082.5(DCTN1):c.843+7C>T
NM_004082.5(DCTN1):c.844-17C>T
NM_004082.5(DCTN1):c.844-19A>C
NM_004082.5(DCTN1):c.844-20C>A
NM_004082.5(DCTN1):c.852G>A (p.Lys284=)
NM_004082.5(DCTN1):c.858G>A (p.Ala286=) rs151107870
NM_004082.5(DCTN1):c.879T>C (p.Tyr293=)
NM_004082.5(DCTN1):c.885G>A (p.Glu295=) rs1219824885
NM_004082.5(DCTN1):c.900T>A (p.Thr300=)
NM_004082.5(DCTN1):c.903T>C (p.Ala301=) rs2103660730
NM_004082.5(DCTN1):c.909C>T (p.Ala303=) rs1206939326
NM_004082.5(DCTN1):c.921C>T (p.Ala307=)
NM_004082.5(DCTN1):c.954T>C (p.Ala318=)
NM_004082.5(DCTN1):c.969G>A (p.Gln323=)
NM_004082.5(DCTN1):c.990G>A (p.Glu330=) rs2103660210
NM_004082.5(DCTN1):c.996G>C (p.Val332=)
NM_004082.5(DCTN1):c.999C>G (p.Asp333Glu) rs200952455
NM_004738.5(VAPB):c.*5479C>T rs554455751
NM_004738.5(VAPB):c.*5612C>G rs140602757
NM_004738.5(VAPB):c.-150C>G rs572151788
NM_004738.5(VAPB):c.-33C>G rs201547974
NM_004738.5(VAPB):c.111C>T (p.Asp37=) rs781691837
NM_004738.5(VAPB):c.117T>C (p.Asn39=) rs748583918
NM_004738.5(VAPB):c.189A>C (p.Ala63=) rs2123058915
NM_004738.5(VAPB):c.195C>A (p.Ala65=) rs1555813003
NM_004738.5(VAPB):c.207A>G (p.Val69=)
NM_004738.5(VAPB):c.211+11A>T
NM_004738.5(VAPB):c.21C>G (p.Val7=) rs763066492
NM_004738.5(VAPB):c.246G>A (p.Glu82=)
NM_004738.5(VAPB):c.24G>A (p.Leu8=)
NM_004738.5(VAPB):c.252T>C (p.Ser84=) rs2123088934
NM_004738.5(VAPB):c.291T>G (p.Thr97=)
NM_004738.5(VAPB):c.309A>G (p.Glu103=)
NM_004738.5(VAPB):c.30C>T (p.Leu10=) rs886056811
NM_004738.5(VAPB):c.315+14G>A
NM_004738.5(VAPB):c.315+14G>T
NM_004738.5(VAPB):c.315+15C>A rs2123089093
NM_004738.5(VAPB):c.315+15C>T
NM_004738.5(VAPB):c.316-17A>T rs201335617
NM_004738.5(VAPB):c.375G>A (p.Leu125=) rs2123096724
NM_004738.5(VAPB):c.378A>G (p.Pro126=) rs981564507
NM_004738.5(VAPB):c.384G>A (p.Glu128=)
NM_004738.5(VAPB):c.396+16G>A
NM_004738.5(VAPB):c.396+21_396+23del
NM_004738.5(VAPB):c.396+9A>G
NM_004738.5(VAPB):c.397-12G>T
NM_004738.5(VAPB):c.397-17C>T
NM_004738.5(VAPB):c.397-18T>C
NM_004738.5(VAPB):c.402T>C (p.Asp134=)
NM_004738.5(VAPB):c.438A>G (p.Ser146=)
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004738.5(VAPB):c.547C>T (p.Leu183=)
NM_004738.5(VAPB):c.564G>A (p.Lys188=) rs1252962552
NM_004738.5(VAPB):c.573+16C>A
NM_004738.5(VAPB):c.574-15C>T
NM_004738.5(VAPB):c.574-7C>T
NM_004738.5(VAPB):c.58+10A>G
NM_004738.5(VAPB):c.58+14G>A
NM_004738.5(VAPB):c.58+18C>T
NM_004738.5(VAPB):c.58+8C>G
NM_004738.5(VAPB):c.59-11T>C
NM_004738.5(VAPB):c.59-11_59-10del
NM_004738.5(VAPB):c.59-16_59-15del
NM_004738.5(VAPB):c.63C>G (p.Pro21=)
NM_004738.5(VAPB):c.69C>T (p.Thr23=)
NM_004738.5(VAPB):c.78C>T (p.Val26=) rs2123058654
NM_004738.5(VAPB):c.99C>T (p.Gly33=)
NM_005866.4(SIGMAR1):c.151+16G>A
NM_005866.4(SIGMAR1):c.151+16G>C
NM_005866.4(SIGMAR1):c.151+19G>A
NM_005866.4(SIGMAR1):c.152-15C>T
NM_005866.4(SIGMAR1):c.152-16C>T
NM_005866.4(SIGMAR1):c.152-4C>A rs1678098962
NM_005866.4(SIGMAR1):c.152-7C>T
NM_005866.4(SIGMAR1):c.153G>T (p.Gly51=)
NM_005866.4(SIGMAR1):c.171C>T (p.Ala57=)
NM_005866.4(SIGMAR1):c.177T>G (p.Ser59=) rs1365967267
NM_005866.4(SIGMAR1):c.195G>T (p.Leu65=)
NM_005866.4(SIGMAR1):c.198G>C (p.Arg66=)
NM_005866.4(SIGMAR1):c.202C>T (p.Leu68=) rs2132329481
NM_005866.4(SIGMAR1):c.207C>T (p.His69=)
NM_005866.4(SIGMAR1):c.216C>T (p.His72=)
NM_005866.4(SIGMAR1):c.237G>T (p.Leu79=) rs555351774
NM_005866.4(SIGMAR1):c.255T>C (p.Asn85=)
NM_005866.4(SIGMAR1):c.261T>A (p.Gly87=)
NM_005866.4(SIGMAR1):c.288G>T (p.Leu96=)
NM_005866.4(SIGMAR1):c.291C>T (p.His97=)
NM_005866.4(SIGMAR1):c.297G>T (p.Ser99=)
NM_005866.4(SIGMAR1):c.300G>A (p.Leu100=) rs1554707982
NM_005866.4(SIGMAR1):c.309T>C (p.Tyr103=)
NM_005866.4(SIGMAR1):c.30G>T (p.Ala10=) rs1482584320
NM_005866.4(SIGMAR1):c.339C>A (p.Ser113=)
NM_005866.4(SIGMAR1):c.348C>T (p.His116=) rs978371056
NM_005866.4(SIGMAR1):c.352+10A>G rs2132328730
NM_005866.4(SIGMAR1):c.352+12C>T
NM_005866.4(SIGMAR1):c.352+16G>C
NM_005866.4(SIGMAR1):c.353-9G>C
NM_005866.4(SIGMAR1):c.369G>A (p.Glu123=) rs2132328286
NM_005866.4(SIGMAR1):c.372C>T (p.Ile124=) rs749047578
NM_005866.4(SIGMAR1):c.375G>T (p.Ser125=) rs2132328246
NM_005866.4(SIGMAR1):c.39G>C (p.Ala13=) rs2132330807
NM_005866.4(SIGMAR1):c.445+14C>T
NM_005866.4(SIGMAR1):c.445+17T>A
NM_005866.4(SIGMAR1):c.446-10T>C rs2132324834
NM_005866.4(SIGMAR1):c.446-16G>A
NM_005866.4(SIGMAR1):c.446-5C>G rs1564095230
NM_005866.4(SIGMAR1):c.446-7C>G
NM_005866.4(SIGMAR1):c.446-7C>T
NM_005866.4(SIGMAR1):c.45C>G (p.Leu15=) rs2132330785
NM_005866.4(SIGMAR1):c.462C>T (p.His154=)
NM_005866.4(SIGMAR1):c.48G>A (p.Leu16=)
NM_005866.4(SIGMAR1):c.523C>A (p.Arg175=)
NM_005866.4(SIGMAR1):c.543C>T (p.Thr181=) rs1820831056
NM_005866.4(SIGMAR1):c.546G>A (p.Leu182=)
NM_005866.4(SIGMAR1):c.561C>T (p.Ala187=)
NM_005866.4(SIGMAR1):c.567T>C (p.Thr189=)
NM_005866.4(SIGMAR1):c.600C>T (p.Phe200=)
NM_005866.4(SIGMAR1):c.618T>C (p.Tyr206=)
NM_005866.4(SIGMAR1):c.627C>A (p.Gly209=) rs746866850
NM_005866.4(SIGMAR1):c.63G>A (p.Val21=)
NM_005866.4(SIGMAR1):c.660C>T (p.Gly220=)
NM_005866.4(SIGMAR1):c.84C>T (p.Leu28=)
NM_005866.4(SIGMAR1):c.96G>A (p.Thr32=)
NM_006308.3(HSPB3):c.153G>A (p.Ala51=)
NM_006308.3(HSPB3):c.177G>A (p.Ala59=)
NM_006308.3(HSPB3):c.183G>A (p.Glu61=) rs1761039858
NM_006308.3(HSPB3):c.229G>A (p.Val77Met)
NM_006308.3(HSPB3):c.261T>C (p.Ile87=)
NM_006308.3(HSPB3):c.300C>T (p.His100=)
NM_006308.3(HSPB3):c.347G>C (p.Arg116Pro) rs150931007
NM_006308.3(HSPB3):c.420G>A (p.Val140=) rs2112803288
NM_006308.3(HSPB3):c.90G>T (p.Leu30=) rs2112802922
NM_006736.6(DNAJB2):c.*988C>T
NM_006736.6(DNAJB2):c.*990C>G rs754902866
NM_006736.6(DNAJB2):c.*995C>A
NM_006736.6(DNAJB2):c.15C>T (p.Tyr5=)
NM_006736.6(DNAJB2):c.165G>A (p.Val55=)
NM_006736.6(DNAJB2):c.168G>C (p.Leu56=)
NM_006736.6(DNAJB2):c.175+11G>T
NM_006736.6(DNAJB2):c.175+17G>A
NM_006736.6(DNAJB2):c.175+19C>G
NM_006736.6(DNAJB2):c.175+9C>G rs776887529
NM_006736.6(DNAJB2):c.176-10_176-9del
NM_006736.6(DNAJB2):c.176-20G>A
NM_006736.6(DNAJB2):c.208C>A (p.Arg70=) rs773179867
NM_006736.6(DNAJB2):c.216G>A (p.Gly72=) rs2125082264
NM_006736.6(DNAJB2):c.21C>A (p.Ile7=)
NM_006736.6(DNAJB2):c.229+8G>T rs1181656151
NM_006736.6(DNAJB2):c.230-19C>G
NM_006736.6(DNAJB2):c.230-4C>A
NM_006736.6(DNAJB2):c.237C>T (p.Gly79=) rs1408021796
NM_006736.6(DNAJB2):c.27C>T (p.Asp9=) rs767774707
NM_006736.6(DNAJB2):c.324G>C (p.Gly108=)
NM_006736.6(DNAJB2):c.33G>T (p.Pro11=)
NM_006736.6(DNAJB2):c.348C>G (p.Leu116=)
NM_006736.6(DNAJB2):c.363C>G (p.Gly121=)
NM_006736.6(DNAJB2):c.366C>T (p.Pro122=)
NM_006736.6(DNAJB2):c.369C>T (p.Phe123=)
NM_006736.6(DNAJB2):c.375G>A (p.Glu125=)
NM_006736.6(DNAJB2):c.405C>T (p.Gly135=)
NM_006736.6(DNAJB2):c.408C>T (p.Pro136=)
NM_006736.6(DNAJB2):c.411C>T (p.Phe137=) rs770337874
NM_006736.6(DNAJB2):c.423T>C (p.Ser141=)
NM_006736.6(DNAJB2):c.426C>T (p.Ser142=) rs1235987345
NM_006736.6(DNAJB2):c.445+11C>T
NM_006736.6(DNAJB2):c.445+17C>T
NM_006736.6(DNAJB2):c.445+8C>T rs1553575245
NM_006736.6(DNAJB2):c.445+9T>A rs2125082819
NM_006736.6(DNAJB2):c.446-4C>A rs1574901171
NM_006736.6(DNAJB2):c.453C>T (p.Ser151=)
NM_006736.6(DNAJB2):c.459A>C (p.Ser153=)
NM_006736.6(DNAJB2):c.507A>C (p.Thr169=)
NM_006736.6(DNAJB2):c.548+13T>C
NM_006736.6(DNAJB2):c.548+13T>G
NM_006736.6(DNAJB2):c.548+19G>C
NM_006736.6(DNAJB2):c.548+7G>C rs1559286820
NM_006736.6(DNAJB2):c.549-4A>G rs548673998
NM_006736.6(DNAJB2):c.582G>A (p.Val194=)
NM_006736.6(DNAJB2):c.619+16C>T
NM_006736.6(DNAJB2):c.619+8G>A
NM_006736.6(DNAJB2):c.620-6T>C
NM_006736.6(DNAJB2):c.639A>G (p.Ala213=)
NM_006736.6(DNAJB2):c.63G>A (p.Lys21=) rs970821372
NM_006736.6(DNAJB2):c.640C>T (p.Leu214=)
NM_006736.6(DNAJB2):c.645C>T (p.Gly215=)
NM_006736.6(DNAJB2):c.648G>A (p.Leu216=)
NM_006736.6(DNAJB2):c.65+10T>G
NM_006736.6(DNAJB2):c.65+7G>A
NM_006736.6(DNAJB2):c.65+9C>T
NM_006736.6(DNAJB2):c.66-11A>G
NM_006736.6(DNAJB2):c.66-16C>T
NM_006736.6(DNAJB2):c.663C>T (p.Arg221=) rs377593022
NM_006736.6(DNAJB2):c.693T>G (p.Ser231=) rs2125083703
NM_006736.6(DNAJB2):c.708C>T (p.Val236=) rs762345246
NM_006736.6(DNAJB2):c.717C>T (p.Thr239=)
NM_006736.6(DNAJB2):c.720T>C (p.Pro240=)
NM_006736.6(DNAJB2):c.723C>T (p.Ala241=) rs891313732
NM_006736.6(DNAJB2):c.72G>A (p.Arg24=)
NM_006736.6(DNAJB2):c.741C>T (p.Ser247=)
NM_006736.6(DNAJB2):c.750T>G (p.Ser250=)
NM_006736.6(DNAJB2):c.756T>C (p.Asp252=) rs2125083748
NM_006736.6(DNAJB2):c.819C>T (p.Pro273=)
NM_006736.6(DNAJB2):c.839A>G (p.Gln280Arg)
NM_006736.6(DNAJB2):c.96A>G (p.Pro32=)
NM_014365.3(HSPB8):c.432-10T>A rs368810689
NM_016042.4(EXOSC3):c.100C>T (p.Leu34=)
NM_016042.4(EXOSC3):c.105C>T (p.Leu35=)
NM_016042.4(EXOSC3):c.126G>T (p.Ala42=)
NM_016042.4(EXOSC3):c.150G>A (p.Glu50=)
NM_016042.4(EXOSC3):c.156G>A (p.Pro52=)
NM_016042.4(EXOSC3):c.15G>T (p.Ala5=)
NM_016042.4(EXOSC3):c.171T>C (p.Ala57=) rs1589061382
NM_016042.4(EXOSC3):c.201C>T (p.Cys67=)
NM_016042.4(EXOSC3):c.21C>A (p.Val7=)
NM_016042.4(EXOSC3):c.21C>G (p.Val7=)
NM_016042.4(EXOSC3):c.231C>T (p.Arg77=)
NM_016042.4(EXOSC3):c.234G>A (p.Leu78=)
NM_016042.4(EXOSC3):c.234G>C (p.Leu78=)
NM_016042.4(EXOSC3):c.234G>T (p.Leu78=)
NM_016042.4(EXOSC3):c.240C>T (p.Val80=)
NM_016042.4(EXOSC3):c.246G>A (p.Lys82=)
NM_016042.4(EXOSC3):c.249C>T (p.Cys83=)
NM_016042.4(EXOSC3):c.258C>T (p.Leu86=)
NM_016042.4(EXOSC3):c.261T>A (p.Arg87=) rs1294998925
NM_016042.4(EXOSC3):c.264C>T (p.His88=)
NM_016042.4(EXOSC3):c.273C>T (p.Pro91=)
NM_016042.4(EXOSC3):c.276C>T (p.Gly92=)
NM_016042.4(EXOSC3):c.279T>C (p.Ser93=)
NM_016042.4(EXOSC3):c.27T>C (p.Ala9=)
NM_016042.4(EXOSC3):c.288C>T (p.Gly96=)
NM_016042.4(EXOSC3):c.300C>T (p.Tyr100=)
NM_016042.4(EXOSC3):c.309C>T (p.Asp103=)
NM_016042.4(EXOSC3):c.321G>A (p.Lys107=)
NM_016042.4(EXOSC3):c.324+16G>A
NM_016042.4(EXOSC3):c.324+9G>T
NM_016042.4(EXOSC3):c.325-10C>G
NM_016042.4(EXOSC3):c.325-20C>T
NM_016042.4(EXOSC3):c.366A>C (p.Thr122=)
NM_016042.4(EXOSC3):c.36C>T (p.Leu12=)
NM_016042.4(EXOSC3):c.387C>T (p.Phe129=)
NM_016042.4(EXOSC3):c.396T>C (p.Asp132=)
NM_016042.4(EXOSC3):c.414A>G (p.Pro138=)
NM_016042.4(EXOSC3):c.417T>C (p.Ala139=)
NM_016042.4(EXOSC3):c.421T>C (p.Leu141=)
NM_016042.4(EXOSC3):c.423G>A (p.Leu141=)
NM_016042.4(EXOSC3):c.429C>T (p.Tyr143=)
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=) rs1828679645
NM_016042.4(EXOSC3):c.441A>G (p.Glu147=)
NM_016042.4(EXOSC3):c.444T>C (p.Gly148=)
NM_016042.4(EXOSC3):c.46A>C (p.Arg16=)
NM_016042.4(EXOSC3):c.474+11G>C
NM_016042.4(EXOSC3):c.474+11del
NM_016042.4(EXOSC3):c.474+12A>G
NM_016042.4(EXOSC3):c.474+13G>A
NM_016042.4(EXOSC3):c.474+14C>T
NM_016042.4(EXOSC3):c.474+15C>T
NM_016042.4(EXOSC3):c.474+16T>C
NM_016042.4(EXOSC3):c.474+8C>A
NM_016042.4(EXOSC3):c.474+8C>T
NM_016042.4(EXOSC3):c.474+9G>A
NM_016042.4(EXOSC3):c.475-15T>A
NM_016042.4(EXOSC3):c.475-6T>C
NM_016042.4(EXOSC3):c.475-8_475-6del
NM_016042.4(EXOSC3):c.475-8del
NM_016042.4(EXOSC3):c.48G>A (p.Arg16=)
NM_016042.4(EXOSC3):c.510T>A (p.Ala170=)
NM_016042.4(EXOSC3):c.51G>C (p.Ala17=)
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
NM_016042.4(EXOSC3):c.531G>A (p.Glu177=)
NM_016042.4(EXOSC3):c.537C>T (p.Val179=)
NM_016042.4(EXOSC3):c.546C>T (p.Asp182=)
NM_016042.4(EXOSC3):c.555A>G (p.Gly185=)
NM_016042.4(EXOSC3):c.579T>A (p.Ile193=)
NM_016042.4(EXOSC3):c.579T>C (p.Ile193=)
NM_016042.4(EXOSC3):c.57T>C (p.Ala19=)
NM_016042.4(EXOSC3):c.582A>G (p.Gly194=)
NM_016042.4(EXOSC3):c.591T>G (p.Gly197=) rs753935327
NM_016042.4(EXOSC3):c.592C>T (p.Leu198=)
NM_016042.4(EXOSC3):c.594G>A (p.Leu198=)
NM_016042.4(EXOSC3):c.594G>C (p.Leu198=)
NM_016042.4(EXOSC3):c.60A>G (p.Ala20=)
NM_016042.4(EXOSC3):c.615C>T (p.Gly205=)
NM_016042.4(EXOSC3):c.626+10G>C
NM_016042.4(EXOSC3):c.626+11A>G
NM_016042.4(EXOSC3):c.626+15C>G
NM_016042.4(EXOSC3):c.627-12_627-8del rs778480656
NM_016042.4(EXOSC3):c.627-16_627-12del
NM_016042.4(EXOSC3):c.627-18C>A
NM_016042.4(EXOSC3):c.630A>G (p.Leu210=)
NM_016042.4(EXOSC3):c.63C>G (p.Arg21=)
NM_016042.4(EXOSC3):c.63C>T (p.Arg21=)
NM_016042.4(EXOSC3):c.642T>C (p.Asp214=)
NM_016042.4(EXOSC3):c.663G>A (p.Val221=)
NM_016042.4(EXOSC3):c.66A>C (p.Thr22=)
NM_016042.4(EXOSC3):c.66A>G (p.Thr22=)
NM_016042.4(EXOSC3):c.675T>C (p.Tyr225=)
NM_016042.4(EXOSC3):c.679C>T (p.Leu227=)
NM_016042.4(EXOSC3):c.684G>A (p.Glu228=)
NM_016042.4(EXOSC3):c.69A>G (p.Val23=)
NM_016042.4(EXOSC3):c.6C>A (p.Ala2=)
NM_016042.4(EXOSC3):c.6C>G (p.Ala2=)
NM_016042.4(EXOSC3):c.6C>T (p.Ala2=)
NM_016042.4(EXOSC3):c.702T>C (p.Asn234=)
NM_016042.4(EXOSC3):c.70C>T (p.Leu24=)
NM_016042.4(EXOSC3):c.741T>C (p.Thr247=)
NM_016042.4(EXOSC3):c.753A>C (p.Ala251=)
NM_016042.4(EXOSC3):c.804C>T (p.Ile268=)
NM_016042.4(EXOSC3):c.807C>T (p.Phe269=)
NM_016042.4(EXOSC3):c.816G>A (p.Leu272=)
NM_016042.4(EXOSC3):c.81G>C (p.Val27=)
NM_016042.4(EXOSC3):c.825T>C (p.Ser275=)
NM_017411.4(SMN2):c.869C>G (p.Ser290Ter)
NM_020631.6(PLEKHG5):c.1002G>A (p.Gln334=)
NM_020631.6(PLEKHG5):c.1029G>A (p.Glu343=)
NM_020631.6(PLEKHG5):c.102A>G (p.Ala34=) rs771144155
NM_020631.6(PLEKHG5):c.1032G>T (p.Leu344=)
NM_020631.6(PLEKHG5):c.1033C>T (p.Leu345=)
NM_020631.6(PLEKHG5):c.1035G>A (p.Leu345=)
NM_020631.6(PLEKHG5):c.1047C>T (p.Ala349=) rs187107798
NM_020631.6(PLEKHG5):c.1050C>G (p.Ser350=) rs1290410043
NM_020631.6(PLEKHG5):c.1065G>T (p.Leu355=) rs2148587100
NM_020631.6(PLEKHG5):c.1080+11G>A
NM_020631.6(PLEKHG5):c.1080+12C>T
NM_020631.6(PLEKHG5):c.1080+13T>C
NM_020631.6(PLEKHG5):c.1080+15C>G
NM_020631.6(PLEKHG5):c.1080+15C>T
NM_020631.6(PLEKHG5):c.1080+16G>A
NM_020631.6(PLEKHG5):c.1080+16G>C
NM_020631.6(PLEKHG5):c.1080+16G>T
NM_020631.6(PLEKHG5):c.1080+17C>T
NM_020631.6(PLEKHG5):c.1080+18T>A
NM_020631.6(PLEKHG5):c.1081-11T>C
NM_020631.6(PLEKHG5):c.1081-12C>G
NM_020631.6(PLEKHG5):c.1081-20A>G
NM_020631.6(PLEKHG5):c.1081-8T>C
NM_020631.6(PLEKHG5):c.1098C>G (p.Leu366=) rs1553174372
NM_020631.6(PLEKHG5):c.1098C>T (p.Leu366=)
NM_020631.6(PLEKHG5):c.1099C>T (p.Leu367=)
NM_020631.6(PLEKHG5):c.1131+10G>A
NM_020631.6(PLEKHG5):c.1131+10G>C
NM_020631.6(PLEKHG5):c.1131+14del
NM_020631.6(PLEKHG5):c.1131+15G>A
NM_020631.6(PLEKHG5):c.1131+15G>C
NM_020631.6(PLEKHG5):c.1131+18G>T
NM_020631.6(PLEKHG5):c.1131+19G>C
NM_020631.6(PLEKHG5):c.1131+20C>T
NM_020631.6(PLEKHG5):c.1132-11G>A
NM_020631.6(PLEKHG5):c.1132-15dup
NM_020631.6(PLEKHG5):c.1132-18A>C
NM_020631.6(PLEKHG5):c.1132-20G>C
NM_020631.6(PLEKHG5):c.1132-3del
NM_020631.6(PLEKHG5):c.1132-6G>C rs1569860714
NM_020631.6(PLEKHG5):c.1132-7C>A
NM_020631.6(PLEKHG5):c.1170C>A (p.Ile390=)
NM_020631.6(PLEKHG5):c.1173G>T (p.Ala391=) rs1224927053
NM_020631.6(PLEKHG5):c.1185C>T (p.Arg395=)
NM_020631.6(PLEKHG5):c.1200C>T (p.Ser400=)
NM_020631.6(PLEKHG5):c.1209G>T (p.Ala403=)
NM_020631.6(PLEKHG5):c.1215G>A (p.Val405=) rs757671338
NM_020631.6(PLEKHG5):c.1215G>C (p.Val405=)
NM_020631.6(PLEKHG5):c.1218G>A (p.Leu406=)
NM_020631.6(PLEKHG5):c.1230G>C (p.Arg410=)
NM_020631.6(PLEKHG5):c.1248A>G (p.Leu416=)
NM_020631.6(PLEKHG5):c.1251G>A (p.Gln417=)
NM_020631.6(PLEKHG5):c.1263C>T (p.Phe421=)
NM_020631.6(PLEKHG5):c.1266C>T (p.Leu422=)
NM_020631.6(PLEKHG5):c.126G>A (p.Glu42=)
NM_020631.6(PLEKHG5):c.1278G>A (p.Lys426=)
NM_020631.6(PLEKHG5):c.1281+14C>T
NM_020631.6(PLEKHG5):c.1281+19G>A
NM_020631.6(PLEKHG5):c.1281+19G>T
NM_020631.6(PLEKHG5):c.1281+19_1281+30del
NM_020631.6(PLEKHG5):c.1281+8C>G
NM_020631.6(PLEKHG5):c.1281+9G>A
NM_020631.6(PLEKHG5):c.1282-18T>G
NM_020631.6(PLEKHG5):c.1282-19_1282-18insG
NM_020631.6(PLEKHG5):c.1282-6G>T
NM_020631.6(PLEKHG5):c.1282-7G>C
NM_020631.6(PLEKHG5):c.1282-7G>T
NM_020631.6(PLEKHG5):c.1293C>G (p.Leu431=)
NM_020631.6(PLEKHG5):c.1296C>T (p.Phe432=)
NM_020631.6(PLEKHG5):c.1314C>T (p.Tyr438=)
NM_020631.6(PLEKHG5):c.1335C>T (p.Cys445=)
NM_020631.6(PLEKHG5):c.1344C>T (p.Tyr448=)
NM_020631.6(PLEKHG5):c.1350C>T (p.Arg450=)
NM_020631.6(PLEKHG5):c.1353C>T (p.Gly451=)
NM_020631.6(PLEKHG5):c.1354C>T (p.Leu452=)
NM_020631.6(PLEKHG5):c.1362C>T (p.Arg454=) rs1644560362
NM_020631.6(PLEKHG5):c.1374C>A (p.Leu458=)
NM_020631.6(PLEKHG5):c.1374C>T (p.Leu458=) rs1346162495
NM_020631.6(PLEKHG5):c.1377C>T (p.Phe459=)
NM_020631.6(PLEKHG5):c.1380G>A (p.Arg460=)
NM_020631.6(PLEKHG5):c.1392+10_1392+24del rs1064795162
NM_020631.6(PLEKHG5):c.1392+12C>T
NM_020631.6(PLEKHG5):c.1392+13G>C
NM_020631.6(PLEKHG5):c.1392+14_1392+34del
NM_020631.6(PLEKHG5):c.1392+15G>A rs1190288914
NM_020631.6(PLEKHG5):c.1392+16C>T
NM_020631.6(PLEKHG5):c.1392+17C>T
NM_020631.6(PLEKHG5):c.1392+20G>A
NM_020631.6(PLEKHG5):c.1392+9G>C
NM_020631.6(PLEKHG5):c.1393-11C>T
NM_020631.6(PLEKHG5):c.1393-14C>T
NM_020631.6(PLEKHG5):c.1393-15A>G
NM_020631.6(PLEKHG5):c.1393-20C>A
NM_020631.6(PLEKHG5):c.1393-4G>A
NM_020631.6(PLEKHG5):c.1393-6C>A
NM_020631.6(PLEKHG5):c.1393-9C>A
NM_020631.6(PLEKHG5):c.1393-9C>G
NM_020631.6(PLEKHG5):c.1407C>T (p.His469=)
NM_020631.6(PLEKHG5):c.1423C>T (p.Leu475=) rs2148582975
NM_020631.6(PLEKHG5):c.1434C>T (p.Ser478=)
NM_020631.6(PLEKHG5):c.1458G>A (p.Gln486=)
NM_020631.6(PLEKHG5):c.1476G>A (p.Pro492=)
NM_020631.6(PLEKHG5):c.1476G>T (p.Pro492=)
NM_020631.6(PLEKHG5):c.147A>G (p.Lys49=)
NM_020631.6(PLEKHG5):c.1482G>A (p.Leu494=)
NM_020631.6(PLEKHG5):c.149+13T>C
NM_020631.6(PLEKHG5):c.149+13T>G
NM_020631.6(PLEKHG5):c.149+20G>A
NM_020631.6(PLEKHG5):c.150-11C>T
NM_020631.6(PLEKHG5):c.150-12G>A
NM_020631.6(PLEKHG5):c.150-15_150-13del rs773870699
NM_020631.6(PLEKHG5):c.150-16C>T
NM_020631.6(PLEKHG5):c.150-19C>T
NM_020631.6(PLEKHG5):c.150-8C>T
NM_020631.6(PLEKHG5):c.1506C>A (p.Thr502=)
NM_020631.6(PLEKHG5):c.1515G>A (p.Pro505=)
NM_020631.6(PLEKHG5):c.1518C>T (p.Arg506=)
NM_020631.6(PLEKHG5):c.1533C>T (p.Val511=)
NM_020631.6(PLEKHG5):c.1542+10A>G
NM_020631.6(PLEKHG5):c.1542+16A>T
NM_020631.6(PLEKHG5):c.1542+18C>G
NM_020631.6(PLEKHG5):c.1542+18C>T
NM_020631.6(PLEKHG5):c.1542+19G>A
NM_020631.6(PLEKHG5):c.1542+19G>C
NM_020631.6(PLEKHG5):c.1542+8T>C
NM_020631.6(PLEKHG5):c.1542+9G>C
NM_020631.6(PLEKHG5):c.1543-11C>T
NM_020631.6(PLEKHG5):c.1543-16C>T
NM_020631.6(PLEKHG5):c.1543-4C>G
NM_020631.6(PLEKHG5):c.1543-4C>T
NM_020631.6(PLEKHG5):c.1543-5C>T rs1281567980
NM_020631.6(PLEKHG5):c.1543-6C>T
NM_020631.6(PLEKHG5):c.1545C>T (p.Ile515=) rs762389784
NM_020631.6(PLEKHG5):c.1548C>T (p.Gly516=)
NM_020631.6(PLEKHG5):c.154C>A (p.Arg52=)
NM_020631.6(PLEKHG5):c.1551C>T (p.Ser517=)
NM_020631.6(PLEKHG5):c.1566C>T (p.Ile522=)
NM_020631.6(PLEKHG5):c.1569C>T (p.His523=) rs967572264
NM_020631.6(PLEKHG5):c.1581G>A (p.Ala527=) rs773262365
NM_020631.6(PLEKHG5):c.1581G>T (p.Ala527=)
NM_020631.6(PLEKHG5):c.15G>A (p.Gly5=)
NM_020631.6(PLEKHG5):c.1602G>A (p.Glu534=)
NM_020631.6(PLEKHG5):c.1617G>A (p.Ala539=)
NM_020631.6(PLEKHG5):c.1617G>C (p.Ala539=)
NM_020631.6(PLEKHG5):c.1620C>T (p.Ala540=)
NM_020631.6(PLEKHG5):c.1623G>A (p.Val541=)
NM_020631.6(PLEKHG5):c.1626G>T (p.Val542=)
NM_020631.6(PLEKHG5):c.1635C>T (p.Ile545=) rs1569851488
NM_020631.6(PLEKHG5):c.1638C>T (p.Asp546=)
NM_020631.6(PLEKHG5):c.1644C>T (p.Tyr548=)
NM_020631.6(PLEKHG5):c.1650G>T (p.Val550=)
NM_020631.6(PLEKHG5):c.1653G>A (p.Val551=)
NM_020631.6(PLEKHG5):c.1659C>T (p.Ser553=)
NM_020631.6(PLEKHG5):c.1677C>T (p.Asp559=)
NM_020631.6(PLEKHG5):c.1680+13G>A
NM_020631.6(PLEKHG5):c.1680+17G>A
NM_020631.6(PLEKHG5):c.1680+18C>G
NM_020631.6(PLEKHG5):c.1680+18C>T rs758693239
NM_020631.6(PLEKHG5):c.1680+7G>A
NM_020631.6(PLEKHG5):c.1680+7G>C
NM_020631.6(PLEKHG5):c.1680+7G>T
NM_020631.6(PLEKHG5):c.1681-15G>A
NM_020631.6(PLEKHG5):c.1681-16C>T
NM_020631.6(PLEKHG5):c.1681-17A>G
NM_020631.6(PLEKHG5):c.1681-27_1681-3dup rs748372368
NM_020631.6(PLEKHG5):c.1681-4C>G
NM_020631.6(PLEKHG5):c.1681-5C>T
NM_020631.6(PLEKHG5):c.1681-6C>T
NM_020631.6(PLEKHG5):c.1681-8G>A
NM_020631.6(PLEKHG5):c.1681-9C>G rs373133607
NM_020631.6(PLEKHG5):c.1681-9C>T rs373133607
NM_020631.6(PLEKHG5):c.1686G>C (p.Leu562=) rs1416853157
NM_020631.6(PLEKHG5):c.1710G>A (p.Leu570=) rs1644528365
NM_020631.6(PLEKHG5):c.1716G>A (p.Ala572=)
NM_020631.6(PLEKHG5):c.1725T>A (p.Pro575=) rs1644527800
NM_020631.6(PLEKHG5):c.1728C>T (p.Gly576=)
NM_020631.6(PLEKHG5):c.1734C>T (p.Ser578=)
NM_020631.6(PLEKHG5):c.1737G>A (p.Pro579=)
NM_020631.6(PLEKHG5):c.1737G>T (p.Pro579=)
NM_020631.6(PLEKHG5):c.1743G>A (p.Glu581=) rs1401679164
NM_020631.6(PLEKHG5):c.1746G>A (p.Thr582=)
NM_020631.6(PLEKHG5):c.1752G>A (p.Gln584=)
NM_020631.6(PLEKHG5):c.1776G>A (p.Arg592=)
NM_020631.6(PLEKHG5):c.1782G>A (p.Lys594=) rs762805368
NM_020631.6(PLEKHG5):c.1800+10G>A
NM_020631.6(PLEKHG5):c.1800+16C>A
NM_020631.6(PLEKHG5):c.1800+19C>T
NM_020631.6(PLEKHG5):c.1801-10_1801-8del
NM_020631.6(PLEKHG5):c.1801-15C>G
NM_020631.6(PLEKHG5):c.1801-15C>T
NM_020631.6(PLEKHG5):c.1801-16C>A rs369955570
NM_020631.6(PLEKHG5):c.1801-16C>G
NM_020631.6(PLEKHG5):c.1801-16C>T rs369955570
NM_020631.6(PLEKHG5):c.1801-17C>A
NM_020631.6(PLEKHG5):c.1801-17C>G rs373357833
NM_020631.6(PLEKHG5):c.1801-17C>T
NM_020631.6(PLEKHG5):c.1801-18C>G
NM_020631.6(PLEKHG5):c.1801-20C>G
NM_020631.6(PLEKHG5):c.1809G>A (p.Val603=)
NM_020631.6(PLEKHG5):c.180C>T (p.Ser60=)
NM_020631.6(PLEKHG5):c.1812C>T (p.Tyr604=)
NM_020631.6(PLEKHG5):c.1815C>T (p.Cys605=)
NM_020631.6(PLEKHG5):c.1834C>T (p.Leu612=)
NM_020631.6(PLEKHG5):c.1842G>A (p.Val614=)
NM_020631.6(PLEKHG5):c.1845C>T (p.Thr615=)
NM_020631.6(PLEKHG5):c.1860G>A (p.Lys620=)
NM_020631.6(PLEKHG5):c.1869G>A (p.Arg623=)
NM_020631.6(PLEKHG5):c.1872C>G (p.Thr624=)
NM_020631.6(PLEKHG5):c.1878C>T (p.Val626=)
NM_020631.6(PLEKHG5):c.1884G>A (p.Arg628=)
NM_020631.6(PLEKHG5):c.1893G>A (p.Leu631=) rs2148579764
NM_020631.6(PLEKHG5):c.1933+10C>A
NM_020631.6(PLEKHG5):c.1933+11C>T
NM_020631.6(PLEKHG5):c.1933+12T>C rs2148579594
NM_020631.6(PLEKHG5):c.1933+14G>T
NM_020631.6(PLEKHG5):c.1933+19C>G
NM_020631.6(PLEKHG5):c.1933+9C>T
NM_020631.6(PLEKHG5):c.1934-17G>T
NM_020631.6(PLEKHG5):c.1934-9C>G rs373933352
NM_020631.6(PLEKHG5):c.1935G>T (p.Gly645=) rs147140763
NM_020631.6(PLEKHG5):c.1989G>A (p.Thr663=)
NM_020631.6(PLEKHG5):c.1998C>T (p.Ala666=)
NM_020631.6(PLEKHG5):c.2040C>T (p.Tyr680=)
NM_020631.6(PLEKHG5):c.2049+11A>G rs1557737418
NM_020631.6(PLEKHG5):c.2049+12G>A
NM_020631.6(PLEKHG5):c.2049+7G>A
NM_020631.6(PLEKHG5):c.2049+8C>G
NM_020631.6(PLEKHG5):c.2050-10T>A
NM_020631.6(PLEKHG5):c.2050-11C>G
NM_020631.6(PLEKHG5):c.2050-12C>T
NM_020631.6(PLEKHG5):c.2050-14A>G
NM_020631.6(PLEKHG5):c.2050-16C>T
NM_020631.6(PLEKHG5):c.2050-9T>G
NM_020631.6(PLEKHG5):c.2052C>T (p.Asn684=)
NM_020631.6(PLEKHG5):c.2056C>T (p.Leu686=) rs1569842648
NM_020631.6(PLEKHG5):c.2065C>T (p.Leu689=)
NM_020631.6(PLEKHG5):c.2076G>A (p.Gln692=)
NM_020631.6(PLEKHG5):c.207G>A (p.Thr69=)
NM_020631.6(PLEKHG5):c.2088C>T (p.Gly696=)
NM_020631.6(PLEKHG5):c.210+14C>G
NM_020631.6(PLEKHG5):c.210+15A>G
NM_020631.6(PLEKHG5):c.210+9C>T
NM_020631.6(PLEKHG5):c.211-16C>T
NM_020631.6(PLEKHG5):c.211-17C>T
NM_020631.6(PLEKHG5):c.211-22CCCACC[3]
NM_020631.6(PLEKHG5):c.211-23_211-14dup
NM_020631.6(PLEKHG5):c.211-4C>G
NM_020631.6(PLEKHG5):c.211-5C>A
NM_020631.6(PLEKHG5):c.211-5C>T
NM_020631.6(PLEKHG5):c.211-7C>A
NM_020631.6(PLEKHG5):c.2112G>A (p.Leu704=)
NM_020631.6(PLEKHG5):c.2130G>A (p.Glu710=)
NM_020631.6(PLEKHG5):c.2139G>A (p.Glu713=)
NM_020631.6(PLEKHG5):c.2148G>A (p.Glu716=) rs1569841449
NM_020631.6(PLEKHG5):c.2151G>A (p.Glu717=)
NM_020631.6(PLEKHG5):c.2154G>A (p.Glu718=) rs1410366410
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.6(PLEKHG5):c.2163delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu)
NM_020631.6(PLEKHG5):c.2199C>T (p.Ser733=)
NM_020631.6(PLEKHG5):c.2208C>G (p.Thr736=)
NM_020631.6(PLEKHG5):c.2217G>A (p.Arg739=)
NM_020631.6(PLEKHG5):c.2229C>T (p.Gly743=)
NM_020631.6(PLEKHG5):c.2232C>T (p.Ser744=)
NM_020631.6(PLEKHG5):c.2241T>C (p.Ser747=)
NM_020631.6(PLEKHG5):c.2244G>A (p.Gln748=) rs1569839599
NM_020631.6(PLEKHG5):c.2249+12C>T
NM_020631.6(PLEKHG5):c.2249+14T>C
NM_020631.6(PLEKHG5):c.2249+14T>G
NM_020631.6(PLEKHG5):c.2249+16A>G rs2148577839
NM_020631.6(PLEKHG5):c.2250-12C>G
NM_020631.6(PLEKHG5):c.2250-15C>T
NM_020631.6(PLEKHG5):c.2250-18C>G
NM_020631.6(PLEKHG5):c.2253C>T (p.Ala751=)
NM_020631.6(PLEKHG5):c.2265C>A (p.Ser755=)
NM_020631.6(PLEKHG5):c.2274C>A (p.Thr758=)
NM_020631.6(PLEKHG5):c.2280C>T (p.Ala760=) rs2148576793
NM_020631.6(PLEKHG5):c.2292A>G (p.Val764=)
NM_020631.6(PLEKHG5):c.2301G>C (p.Gly767=)
NM_020631.6(PLEKHG5):c.2316C>A (p.Ser772=)
NM_020631.6(PLEKHG5):c.2319C>G (p.Pro773=) rs80031446
NM_020631.6(PLEKHG5):c.2334T>G (p.Gly778=)
NM_020631.6(PLEKHG5):c.2352T>G (p.Ser784=) rs2148576624
NM_020631.6(PLEKHG5):c.2397C>T (p.Thr799=)
NM_020631.6(PLEKHG5):c.2400T>C (p.Ser800=)
NM_020631.6(PLEKHG5):c.2418T>C (p.Gly806=)
NM_020631.6(PLEKHG5):c.2421G>C (p.Pro807=)
NM_020631.6(PLEKHG5):c.2439C>T (p.Cys813=)
NM_020631.6(PLEKHG5):c.2442C>T (p.Ser814=)
NM_020631.6(PLEKHG5):c.2451T>C (p.Ser817=)
NM_020631.6(PLEKHG5):c.2454C>G (p.Ala818=)
NM_020631.6(PLEKHG5):c.2463C>G (p.Thr821=)
NM_020631.6(PLEKHG5):c.2472A>G (p.Pro824=)
NM_020631.6(PLEKHG5):c.2496C>A (p.Ala832=)
NM_020631.6(PLEKHG5):c.2496C>T (p.Ala832=)
NM_020631.6(PLEKHG5):c.249G>C (p.Leu83=)
NM_020631.6(PLEKHG5):c.2502C>T (p.Gly834=)
NM_020631.6(PLEKHG5):c.2505A>G (p.Pro835=)
NM_020631.6(PLEKHG5):c.2520G>A (p.Val840=) rs2148576118
NM_020631.6(PLEKHG5):c.2538C>A (p.Ser846=) rs776995250
NM_020631.6(PLEKHG5):c.2553C>T (p.Ser851=) rs2148575994
NM_020631.6(PLEKHG5):c.2562C>T (p.Pro854=)
NM_020631.6(PLEKHG5):c.2589T>C (p.Pro863=)
NM_020631.6(PLEKHG5):c.2596C>T (p.Leu866=)
NM_020631.6(PLEKHG5):c.2622C>G (p.Leu874=)
NM_020631.6(PLEKHG5):c.2646C>T (p.Leu882=)
NM_020631.6(PLEKHG5):c.2658G>A (p.Leu886=)
NM_020631.6(PLEKHG5):c.2679G>A (p.Gly893=)
NM_020631.6(PLEKHG5):c.2691C>G (p.Ala897=) rs755539639
NM_020631.6(PLEKHG5):c.2721G>A (p.Leu907=)
NM_020631.6(PLEKHG5):c.2733C>A (p.Ala911=)
NM_020631.6(PLEKHG5):c.2733C>T (p.Ala911=)
NM_020631.6(PLEKHG5):c.2736A>C (p.Pro912=)
NM_020631.6(PLEKHG5):c.2739T>C (p.Gly913=)
NM_020631.6(PLEKHG5):c.273C>A (p.Ile91=)
NM_020631.6(PLEKHG5):c.2745G>A (p.Arg915=)
NM_020631.6(PLEKHG5):c.2757C>G (p.Ser919=)
NM_020631.6(PLEKHG5):c.2759_2761del (p.Pro920del) rs536097668
NM_020631.6(PLEKHG5):c.2772G>T (p.Gly924=)
NM_020631.6(PLEKHG5):c.2793G>A (p.Gly931=)
NM_020631.6(PLEKHG5):c.2796C>G (p.Ala932=)
NM_020631.6(PLEKHG5):c.2799T>G (p.Pro933=) rs779825659
NM_020631.6(PLEKHG5):c.27C>T (p.Phe9=)
NM_020631.6(PLEKHG5):c.2838C>G (p.Ala946=) rs573561537
NM_020631.6(PLEKHG5):c.2868G>A (p.Arg956=)
NM_020631.6(PLEKHG5):c.2883C>T (p.Pro961=)
NM_020631.6(PLEKHG5):c.2886G>A (p.Ser962=) rs749015188
NM_020631.6(PLEKHG5):c.288G>T (p.Lys96Asn) rs575792064
NM_020631.6(PLEKHG5):c.291G>A (p.Lys97=)
NM_020631.6(PLEKHG5):c.2925G>A (p.Gly975=)
NM_020631.6(PLEKHG5):c.2958C>T (p.Ala986=)
NM_020631.6(PLEKHG5):c.2976G>A (p.Arg992=)
NM_020631.6(PLEKHG5):c.2982C>T (p.Thr994=)
NM_020631.6(PLEKHG5):c.2983C>T (p.Leu995=)
NM_020631.6(PLEKHG5):c.2986C>T (p.Leu996=) rs1249333557
NM_020631.6(PLEKHG5):c.298C>T (p.Leu100=) rs2148592587
NM_020631.6(PLEKHG5):c.2994C>T (p.Asn998=)
NM_020631.6(PLEKHG5):c.3000G>A (p.Thr1000=) rs770466036
NM_020631.6(PLEKHG5):c.3000G>C (p.Thr1000=)
NM_020631.6(PLEKHG5):c.3003C>T (p.Leu1001=)
NM_020631.6(PLEKHG5):c.3011+11T>C
NM_020631.6(PLEKHG5):c.3011+12G>A
NM_020631.6(PLEKHG5):c.3011+14A>G
NM_020631.6(PLEKHG5):c.3011+15C>A
NM_020631.6(PLEKHG5):c.3011+17G>A
NM_020631.6(PLEKHG5):c.3011+17G>T
NM_020631.6(PLEKHG5):c.3011+19G>A
NM_020631.6(PLEKHG5):c.3012-10C>T
NM_020631.6(PLEKHG5):c.3012-11C>G
NM_020631.6(PLEKHG5):c.3012-15C>G
NM_020631.6(PLEKHG5):c.3012-17C>T
NM_020631.6(PLEKHG5):c.3012-18C>T
NM_020631.6(PLEKHG5):c.3012-7C>T
NM_020631.6(PLEKHG5):c.3015G>A (p.Glu1005=)
NM_020631.6(PLEKHG5):c.302+11dup
NM_020631.6(PLEKHG5):c.303-12T>C
NM_020631.6(PLEKHG5):c.303-13G>C
NM_020631.6(PLEKHG5):c.303-16C>T rs2148591484
NM_020631.6(PLEKHG5):c.303-19C>G
NM_020631.6(PLEKHG5):c.303-19C>T
NM_020631.6(PLEKHG5):c.303-4G>A rs746297437
NM_020631.6(PLEKHG5):c.303-4G>T
NM_020631.6(PLEKHG5):c.303-7G>C rs1164371404
NM_020631.6(PLEKHG5):c.318T>C (p.Pro106=)
NM_020631.6(PLEKHG5):c.333G>A (p.Lys111=)
NM_020631.6(PLEKHG5):c.342G>A (p.Ala114=)
NM_020631.6(PLEKHG5):c.343C>T (p.Leu115=)
NM_020631.6(PLEKHG5):c.363C>T (p.Tyr121=)
NM_020631.6(PLEKHG5):c.369C>T (p.Asp123=)
NM_020631.6(PLEKHG5):c.36C>A (p.Pro12=) rs2148598115
NM_020631.6(PLEKHG5):c.372G>A (p.Gln124=)
NM_020631.6(PLEKHG5):c.39A>G (p.Pro13=) rs2148598086
NM_020631.6(PLEKHG5):c.417G>A (p.Gly139=)
NM_020631.6(PLEKHG5):c.420A>T (p.Gly140=)
NM_020631.6(PLEKHG5):c.426C>T (p.Tyr142=)
NM_020631.6(PLEKHG5):c.43+12C>T
NM_020631.6(PLEKHG5):c.43+13G>C
NM_020631.6(PLEKHG5):c.43+19C>T
NM_020631.6(PLEKHG5):c.43+20G>A rs200779049
NM_020631.6(PLEKHG5):c.43+7A>G
NM_020631.6(PLEKHG5):c.43+8_43+22del
NM_020631.6(PLEKHG5):c.439+17G>A
NM_020631.6(PLEKHG5):c.439+8G>A
NM_020631.6(PLEKHG5):c.439+9C>G
NM_020631.6(PLEKHG5):c.44-13G>A
NM_020631.6(PLEKHG5):c.44-5C>T
NM_020631.6(PLEKHG5):c.440-17G>A rs200894921
NM_020631.6(PLEKHG5):c.440-17G>C
NM_020631.6(PLEKHG5):c.440-18C>T
NM_020631.6(PLEKHG5):c.440-7_440-6inv
NM_020631.6(PLEKHG5):c.440-9C>T rs772633418
NM_020631.6(PLEKHG5):c.441C>A (p.Ala147=)
NM_020631.6(PLEKHG5):c.441C>T (p.Ala147=)
NM_020631.6(PLEKHG5):c.444A>G (p.Pro148=)
NM_020631.6(PLEKHG5):c.450G>A (p.Lys150=)
NM_020631.6(PLEKHG5):c.456A>G (p.Gly152=)
NM_020631.6(PLEKHG5):c.498C>T (p.Ser166=)
NM_020631.6(PLEKHG5):c.510G>C (p.Pro170=)
NM_020631.6(PLEKHG5):c.525T>G (p.Ala175=)
NM_020631.6(PLEKHG5):c.534G>T (p.Gly178=) rs1569875832
NM_020631.6(PLEKHG5):c.537C>A (p.Pro179=)
NM_020631.6(PLEKHG5):c.540C>A (p.Pro180=)
NM_020631.6(PLEKHG5):c.540C>G (p.Pro180=) rs372624847
NM_020631.6(PLEKHG5):c.540C>T (p.Pro180=) rs372624847
NM_020631.6(PLEKHG5):c.552T>G (p.Arg184=)
NM_020631.6(PLEKHG5):c.567C>T (p.Ser189=)
NM_020631.6(PLEKHG5):c.573G>A (p.Arg191=)
NM_020631.6(PLEKHG5):c.591+10dup
NM_020631.6(PLEKHG5):c.591+14G>C
NM_020631.6(PLEKHG5):c.591+14G>T
NM_020631.6(PLEKHG5):c.591+15G>A
NM_020631.6(PLEKHG5):c.591+4AGG[4]
NM_020631.6(PLEKHG5):c.591+9G>C rs372310391
NM_020631.6(PLEKHG5):c.591+9G>T
NM_020631.6(PLEKHG5):c.592-10C>T
NM_020631.6(PLEKHG5):c.592-13C>G
NM_020631.6(PLEKHG5):c.592-13C>T
NM_020631.6(PLEKHG5):c.592-15C>A
NM_020631.6(PLEKHG5):c.592-20G>A
NM_020631.6(PLEKHG5):c.592-4C>T
NM_020631.6(PLEKHG5):c.592-6G>C
NM_020631.6(PLEKHG5):c.592-8C>A
NM_020631.6(PLEKHG5):c.592-9C>T
NM_020631.6(PLEKHG5):c.594C>G (p.Ala198=) rs1557745612
NM_020631.6(PLEKHG5):c.594C>T (p.Ala198=)
NM_020631.6(PLEKHG5):c.600C>T (p.Gly200=)
NM_020631.6(PLEKHG5):c.627C>T (p.Phe209=)
NM_020631.6(PLEKHG5):c.633G>A (p.Gly211=)
NM_020631.6(PLEKHG5):c.633G>T (p.Gly211=) rs1365704916
NM_020631.6(PLEKHG5):c.657G>A (p.Glu219=)
NM_020631.6(PLEKHG5):c.663C>A (p.Pro221=)
NM_020631.6(PLEKHG5):c.663C>G (p.Pro221=)
NM_020631.6(PLEKHG5):c.666G>A (p.Thr222=)
NM_020631.6(PLEKHG5):c.66G>C (p.Val22=)
NM_020631.6(PLEKHG5):c.681T>C (p.Ser227=)
NM_020631.6(PLEKHG5):c.690C>T (p.Ser230=)
NM_020631.6(PLEKHG5):c.711C>T (p.Asn237=)
NM_020631.6(PLEKHG5):c.717C>T (p.Gly239=)
NM_020631.6(PLEKHG5):c.729G>A (p.Lys243=)
NM_020631.6(PLEKHG5):c.738G>A (p.Ala246=)
NM_020631.6(PLEKHG5):c.78A>G (p.Ser26=)
NM_020631.6(PLEKHG5):c.792C>T (p.Gly264=)
NM_020631.6(PLEKHG5):c.795+16T>A
NM_020631.6(PLEKHG5):c.795+20C>G
NM_020631.6(PLEKHG5):c.795+20C>T
NM_020631.6(PLEKHG5):c.796-12G>C
NM_020631.6(PLEKHG5):c.796-13G>A
NM_020631.6(PLEKHG5):c.796-13G>C rs377254091
NM_020631.6(PLEKHG5):c.796-17C>T
NM_020631.6(PLEKHG5):c.796-20T>C rs1344632009
NM_020631.6(PLEKHG5):c.796-6T>C
NM_020631.6(PLEKHG5):c.796-6T>G
NM_020631.6(PLEKHG5):c.807G>A (p.Lys269=)
NM_020631.6(PLEKHG5):c.819G>A (p.Leu273=) rs771904496
NM_020631.6(PLEKHG5):c.840C>T (p.Tyr280=)
NM_020631.6(PLEKHG5):c.870G>A (p.Arg290=)
NM_020631.6(PLEKHG5):c.873G>C (p.Gly291=)
NM_020631.6(PLEKHG5):c.879C>T (p.Arg293=)
NM_020631.6(PLEKHG5):c.885C>T (p.Asp295=)
NM_020631.6(PLEKHG5):c.906G>A (p.Glu302=)
NM_020631.6(PLEKHG5):c.90C>T (p.Arg30=)
NM_020631.6(PLEKHG5):c.915A>G (p.Glu305=)
NM_020631.6(PLEKHG5):c.921G>A (p.Glu307=)
NM_020631.6(PLEKHG5):c.927G>A (p.Glu309=)
NM_020631.6(PLEKHG5):c.940C>T (p.Leu314=)
NM_020631.6(PLEKHG5):c.966G>A (p.Glu322=)
NM_020631.6(PLEKHG5):c.969C>T (p.Leu323=)
NM_020631.6(PLEKHG5):c.984+14A>G
NM_020631.6(PLEKHG5):c.984+14A>T
NM_020631.6(PLEKHG5):c.984+15C>T
NM_020631.6(PLEKHG5):c.984+15_984+16del
NM_020631.6(PLEKHG5):c.984+17G>A
NM_020631.6(PLEKHG5):c.984+8C>A
NM_020631.6(PLEKHG5):c.984+8C>G
NM_020631.6(PLEKHG5):c.985-11C>T
NM_020631.6(PLEKHG5):c.985-18A>T
NM_020631.6(PLEKHG5):c.985-19C>T
NM_020631.6(PLEKHG5):c.985-19del
NM_020631.6(PLEKHG5):c.985-4C>G
NM_020631.6(PLEKHG5):c.985-4C>T
NM_020631.6(PLEKHG5):c.985-7C>A
NM_020631.6(PLEKHG5):c.990G>T (p.Leu330=)
NM_020631.6(PLEKHG5):c.993C>T (p.Thr331=)
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=) rs148232621
NM_020631.6(PLEKHG5):c.99C>A (p.Pro33=)
NM_020631.6(PLEKHG5):c.99C>G (p.Pro33=)
NM_021815.5(SLC5A7):c.1023T>C (p.Ser341=)
NM_021815.5(SLC5A7):c.1023T>G (p.Ser341=)
NM_021815.5(SLC5A7):c.102C>T (p.Ser34=) rs778941657
NM_021815.5(SLC5A7):c.1086C>T (p.Asn362=) rs761044523
NM_021815.5(SLC5A7):c.1113+13del rs2104379640
NM_021815.5(SLC5A7):c.1113+14C>A
NM_021815.5(SLC5A7):c.1113+14del
NM_021815.5(SLC5A7):c.1114-13C>A
NM_021815.5(SLC5A7):c.1114-16_1114-15del
NM_021815.5(SLC5A7):c.1161G>A (p.Val387=) rs2104382693
NM_021815.5(SLC5A7):c.1170A>G (p.Ala390=)
NM_021815.5(SLC5A7):c.1182C>T (p.Ala394=)
NM_021815.5(SLC5A7):c.1203T>A (p.Thr401=)
NM_021815.5(SLC5A7):c.1251C>T (p.Ile417=) rs1334655911
NM_021815.5(SLC5A7):c.1257C>T (p.Pro419=) rs557717267
NM_021815.5(SLC5A7):c.1266T>G (p.Leu422=) rs1553459987
NM_021815.5(SLC5A7):c.1269T>C (p.Cys423=) rs1678273384
NM_021815.5(SLC5A7):c.1290C>G (p.Thr430=) rs1573618054
NM_021815.5(SLC5A7):c.1302G>A (p.Gly434=) rs767552380
NM_021815.5(SLC5A7):c.1326C>T (p.Gly442=)
NM_021815.5(SLC5A7):c.1362G>C (p.Leu454=)
NM_021815.5(SLC5A7):c.1362G>T (p.Leu454=)
NM_021815.5(SLC5A7):c.1389T>C (p.Pro463=)
NM_021815.5(SLC5A7):c.1449C>T (p.Ala483=)
NM_021815.5(SLC5A7):c.1465T>C (p.Leu489=) rs2104383662
NM_021815.5(SLC5A7):c.1485C>T (p.Ser495=)
NM_021815.5(SLC5A7):c.1497G>A (p.Lys499=) rs2104383766
NM_021815.5(SLC5A7):c.1501C>T (p.Leu501=)
NM_021815.5(SLC5A7):c.1503A>G (p.Leu501=)
NM_021815.5(SLC5A7):c.1533A>G (p.Leu511=) rs748269839
NM_021815.5(SLC5A7):c.154T>C (p.Leu52=) rs894241313
NM_021815.5(SLC5A7):c.1569A>G (p.Glu523=)
NM_021815.5(SLC5A7):c.1596C>T (p.Val532=)
NM_021815.5(SLC5A7):c.1608T>C (p.Asn536=)
NM_021815.5(SLC5A7):c.1615T>C (p.Leu539=) rs904369740
NM_021815.5(SLC5A7):c.1629A>C (p.Ala543=)
NM_021815.5(SLC5A7):c.1659C>G (p.Leu553=) rs2104384314
NM_021815.5(SLC5A7):c.1659C>T (p.Leu553=) rs2104384314
NM_021815.5(SLC5A7):c.1677T>C (p.Asn559=) rs1678299598
NM_021815.5(SLC5A7):c.1725T>G (p.Thr575=) rs1678302888
NM_021815.5(SLC5A7):c.178+13G>A
NM_021815.5(SLC5A7):c.178+16G>A
NM_021815.5(SLC5A7):c.189C>T (p.Val63=) rs1573591981
NM_021815.5(SLC5A7):c.204C>T (p.Ile68=)
NM_021815.5(SLC5A7):c.21A>G (p.Gly7=)
NM_021815.5(SLC5A7):c.231A>C (p.Val77=)
NM_021815.5(SLC5A7):c.285G>C (p.Leu95=)
NM_021815.5(SLC5A7):c.292+11G>C rs777715689
NM_021815.5(SLC5A7):c.293-17A>T
NM_021815.5(SLC5A7):c.294T>C (p.Gly98=) rs2104342304
NM_021815.5(SLC5A7):c.297C>T (p.Gly99=)
NM_021815.5(SLC5A7):c.300G>A (p.Leu100=)
NM_021815.5(SLC5A7):c.324A>C (p.Ser108=)
NM_021815.5(SLC5A7):c.333T>C (p.Tyr111=) rs1573593406
NM_021815.5(SLC5A7):c.351G>C (p.Pro117=) rs368109143
NM_021815.5(SLC5A7):c.354T>C (p.Phe118=)
NM_021815.5(SLC5A7):c.36C>T (p.Ile12=)
NM_021815.5(SLC5A7):c.390G>A (p.Leu130=) rs1553457998
NM_021815.5(SLC5A7):c.39G>A (p.Val13=)
NM_021815.5(SLC5A7):c.402A>C (p.Ala134=)
NM_021815.5(SLC5A7):c.429A>G (p.Ala143=) rs2104342884
NM_021815.5(SLC5A7):c.441T>C (p.Ser147=)
NM_021815.5(SLC5A7):c.448+12C>T rs775806807
NM_021815.5(SLC5A7):c.448+16G>A
NM_021815.5(SLC5A7):c.448+17T>C
NM_021815.5(SLC5A7):c.448+7A>G
NM_021815.5(SLC5A7):c.448+9C>T rs759922183
NM_021815.5(SLC5A7):c.449-11G>A
NM_021815.5(SLC5A7):c.449-13T>C
NM_021815.5(SLC5A7):c.449-13_449-12del
NM_021815.5(SLC5A7):c.449-19A>G
NM_021815.5(SLC5A7):c.449-9_449-8del
NM_021815.5(SLC5A7):c.528A>G (p.Thr176=) rs780484840
NM_021815.5(SLC5A7):c.531G>T (p.Leu177=) rs1027922396
NM_021815.5(SLC5A7):c.540G>A (p.Gly180=) rs574474443
NM_021815.5(SLC5A7):c.540G>T (p.Gly180=) rs574474443
NM_021815.5(SLC5A7):c.543C>T (p.Leu181=)
NM_021815.5(SLC5A7):c.555C>T (p.Ala185=) rs1032544775
NM_021815.5(SLC5A7):c.567C>T (p.Val189=)
NM_021815.5(SLC5A7):c.591A>G (p.Val197=)
NM_021815.5(SLC5A7):c.594G>T (p.Gly198=)
NM_021815.5(SLC5A7):c.597+14C>T rs370808911
NM_021815.5(SLC5A7):c.598-18T>G rs892853771
NM_021815.5(SLC5A7):c.598-7G>A rs759555286
NM_021815.5(SLC5A7):c.598-7G>C
NM_021815.5(SLC5A7):c.630T>C (p.Pro210=)
NM_021815.5(SLC5A7):c.648G>C (p.Gly216=) rs1573607048
NM_021815.5(SLC5A7):c.714C>T (p.Tyr238=)
NM_021815.5(SLC5A7):c.741+11C>T
NM_021815.5(SLC5A7):c.741+8A>C
NM_021815.5(SLC5A7):c.742-10T>C rs2104373298
NM_021815.5(SLC5A7):c.742-15G>A
NM_021815.5(SLC5A7):c.742-17T>C
NM_021815.5(SLC5A7):c.742-5C>T rs1287734210
NM_021815.5(SLC5A7):c.742-6G>T
NM_021815.5(SLC5A7):c.747G>A (p.Leu249=) rs2104373334
NM_021815.5(SLC5A7):c.756C>T (p.Ile252=)
NM_021815.5(SLC5A7):c.759A>T (p.Pro253=) rs372145153
NM_021815.5(SLC5A7):c.768A>C (p.Ala256=)
NM_021815.5(SLC5A7):c.795C>T (p.Ser265=)
NM_021815.5(SLC5A7):c.840G>T (p.Gly280=)
NM_021815.5(SLC5A7):c.888A>C (p.Ala296=)
NM_021815.5(SLC5A7):c.895+12G>A
NM_021815.5(SLC5A7):c.895+17T>C
NM_021815.5(SLC5A7):c.895+17T>G
NM_021815.5(SLC5A7):c.895+19C>T
NM_021815.5(SLC5A7):c.895+20A>G
NM_021815.5(SLC5A7):c.896-13T>C
NM_021815.5(SLC5A7):c.896-17T>C
NM_021815.5(SLC5A7):c.896-18G>T
NM_021815.5(SLC5A7):c.903C>T (p.Asn301=) rs2104379044
NM_021815.5(SLC5A7):c.912A>C (p.Ala304=)
NM_021815.5(SLC5A7):c.939A>G (p.Thr313=) rs778842636
NM_021815.5(SLC5A7):c.963A>G (p.Pro321=)
NM_021815.5(SLC5A7):c.981C>T (p.Leu327=) rs1011037891
NM_177924.5(ASAH1):c.667C>T (p.Leu223=) rs371332103
NM_181503.3(EXOSC8):c.55-10_55-9del rs144158336
NM_205836.3(FBXO38):c.1008C>G (p.Val336=) rs2113563750
NM_205836.3(FBXO38):c.1062T>C (p.His354=)
NM_205836.3(FBXO38):c.1093+15A>C
NM_205836.3(FBXO38):c.1093+9del
NM_205836.3(FBXO38):c.1094-11G>A
NM_205836.3(FBXO38):c.1094-11G>T
NM_205836.3(FBXO38):c.1094-14del
NM_205836.3(FBXO38):c.1094-17T>A
NM_205836.3(FBXO38):c.1094-6T>C
NM_205836.3(FBXO38):c.1094-8C>G
NM_205836.3(FBXO38):c.1094-8C>T
NM_205836.3(FBXO38):c.1104T>C (p.Ala368=)
NM_205836.3(FBXO38):c.117C>T (p.Cys39=) rs2113505913
NM_205836.3(FBXO38):c.1203T>C (p.Cys401=) rs146977833
NM_205836.3(FBXO38):c.1233T>C (p.Pro411=) rs1581256311
NM_205836.3(FBXO38):c.1264+7C>A rs748117269
NM_205836.3(FBXO38):c.1265-18A>T
NM_205836.3(FBXO38):c.1265-20T>G
NM_205836.3(FBXO38):c.1265-7T>G
NM_205836.3(FBXO38):c.1275A>G (p.Arg425=) rs1753027554
NM_205836.3(FBXO38):c.128+11G>T
NM_205836.3(FBXO38):c.128+19G>A
NM_205836.3(FBXO38):c.128+9G>T rs1376941419
NM_205836.3(FBXO38):c.1284A>G (p.Arg428=) rs138223855
NM_205836.3(FBXO38):c.1284A>T (p.Arg428=)
NM_205836.3(FBXO38):c.129-17T>C
NM_205836.3(FBXO38):c.129-20A>G
NM_205836.3(FBXO38):c.1302A>T (p.Leu434=)
NM_205836.3(FBXO38):c.1328A>G (p.Asp443Gly)
NM_205836.3(FBXO38):c.1359C>T (p.Pro453=)
NM_205836.3(FBXO38):c.1407+10A>G
NM_205836.3(FBXO38):c.1407+12T>G
NM_205836.3(FBXO38):c.1407+14G>T rs2113584936
NM_205836.3(FBXO38):c.1407+16G>A
NM_205836.3(FBXO38):c.1407+8A>G
NM_205836.3(FBXO38):c.1408-12G>A
NM_205836.3(FBXO38):c.1408-17T>C
NM_205836.3(FBXO38):c.1408-20G>A
NM_205836.3(FBXO38):c.1416T>C (p.Ala472=)
NM_205836.3(FBXO38):c.1458A>G (p.Ser486=) rs751775711
NM_205836.3(FBXO38):c.1515T>C (p.Asn505=)
NM_205836.3(FBXO38):c.1518C>T (p.Ala506=) rs2113589139
NM_205836.3(FBXO38):c.1533C>T (p.Asn511=)
NM_205836.3(FBXO38):c.1554C>T (p.Asp518=)
NM_205836.3(FBXO38):c.1569T>C (p.Asn523=)
NM_205836.3(FBXO38):c.1585C>T (p.Leu529=)
NM_205836.3(FBXO38):c.1608T>C (p.Phe536=) rs2113589792
NM_205836.3(FBXO38):c.1618+16T>A
NM_205836.3(FBXO38):c.1619-13A>T
NM_205836.3(FBXO38):c.1619-15A>T
NM_205836.3(FBXO38):c.1619-6T>C
NM_205836.3(FBXO38):c.1619-7G>C
NM_205836.3(FBXO38):c.1619-8C>T
NM_205836.3(FBXO38):c.1638C>T (p.Asp546=) rs1214333274
NM_205836.3(FBXO38):c.1641C>T (p.Ile547=)
NM_205836.3(FBXO38):c.1643T>G (p.Val548Gly) rs1753582545
NM_205836.3(FBXO38):c.1660G>A (p.Val554Met)
NM_205836.3(FBXO38):c.1668C>T (p.Ala556=) rs778114879
NM_205836.3(FBXO38):c.1689A>T (p.Pro563=)
NM_205836.3(FBXO38):c.1690G>C (p.Ala564Pro) rs371915188
NM_205836.3(FBXO38):c.1738+7_1738+8del
NM_205836.3(FBXO38):c.1739-17C>G
NM_205836.3(FBXO38):c.1739-18C>T
NM_205836.3(FBXO38):c.1757G>C (p.Arg586Pro) rs369833842
NM_205836.3(FBXO38):c.1788T>C (p.His596=)
NM_205836.3(FBXO38):c.1815T>C (p.Asp605=)
NM_205836.3(FBXO38):c.1866C>T (p.Tyr622=)
NM_205836.3(FBXO38):c.1884A>G (p.Lys628=) rs1432315334
NM_205836.3(FBXO38):c.1893G>A (p.Glu631=) rs1293117799
NM_205836.3(FBXO38):c.1914G>A (p.Leu638=)
NM_205836.3(FBXO38):c.1918+10T>C
NM_205836.3(FBXO38):c.1918+19C>G rs2113622260
NM_205836.3(FBXO38):c.1918+8A>G
NM_205836.3(FBXO38):c.1918+9T>C
NM_205836.3(FBXO38):c.1941A>T (p.Pro647=)
NM_205836.3(FBXO38):c.1977G>A (p.Gln659=)
NM_205836.3(FBXO38):c.1995C>T (p.Leu665=)
NM_205836.3(FBXO38):c.2019C>T (p.Gly673=)
NM_205836.3(FBXO38):c.2025G>A (p.Gln675=)
NM_205836.3(FBXO38):c.2049C>T (p.Ala683=)
NM_205836.3(FBXO38):c.2052T>C (p.Asp684=) rs2113627556
NM_205836.3(FBXO38):c.2085A>G (p.Lys695=) rs2113627744
NM_205836.3(FBXO38):c.2157C>T (p.Asn719=)
NM_205836.3(FBXO38):c.216A>G (p.Arg72=) rs1751992559
NM_205836.3(FBXO38):c.2190G>A (p.Thr730=)
NM_205836.3(FBXO38):c.2196C>T (p.Asn732=) rs1436645762
NM_205836.3(FBXO38):c.2223T>A (p.Pro741=)
NM_205836.3(FBXO38):c.2223T>C (p.Pro741=)
NM_205836.3(FBXO38):c.2226A>T (p.Thr742=) rs201175127
NM_205836.3(FBXO38):c.2265T>G (p.Gly755=)
NM_205836.3(FBXO38):c.228C>T (p.Leu76=)
NM_205836.3(FBXO38):c.2295G>A (p.Glu765=)
NM_205836.3(FBXO38):c.2331C>T (p.Cys777=) rs1027047013
NM_205836.3(FBXO38):c.234A>G (p.Ala78=) rs2113522018
NM_205836.3(FBXO38):c.2421C>G (p.Gly807=) rs1581281621
NM_205836.3(FBXO38):c.2434A>C (p.Arg812=)
NM_205836.3(FBXO38):c.2439C>T (p.Ser813=)
NM_205836.3(FBXO38):c.2440G>A (p.Ala814Thr) rs201680339
NM_205836.3(FBXO38):c.2447C>T (p.Ser816Phe)
NM_205836.3(FBXO38):c.262+7G>A rs2113522185
NM_205836.3(FBXO38):c.263-13C>G
NM_205836.3(FBXO38):c.263-19A>G
NM_205836.3(FBXO38):c.263-8C>T rs2113531734
NM_205836.3(FBXO38):c.2654-20T>C
NM_205836.3(FBXO38):c.2700A>G (p.Thr900=)
NM_205836.3(FBXO38):c.2754+12dup rs778971526
NM_205836.3(FBXO38):c.2754+13C>A
NM_205836.3(FBXO38):c.2755-11T>A rs2113648657
NM_205836.3(FBXO38):c.2755-19C>T rs1754167640
NM_205836.3(FBXO38):c.2857+13G>T rs2113649139
NM_205836.3(FBXO38):c.2857+17A>G
NM_205836.3(FBXO38):c.2857+7A>G
NM_205836.3(FBXO38):c.2858-15G>A
NM_205836.3(FBXO38):c.2858-9A>C
NM_205836.3(FBXO38):c.2904A>G (p.Pro968=) rs2113663254
NM_205836.3(FBXO38):c.2955G>A (p.Gln985=) rs2113663411
NM_205836.3(FBXO38):c.2964C>T (p.Asp988=) rs1581309185
NM_205836.3(FBXO38):c.2982A>G (p.Pro994=)
NM_205836.3(FBXO38):c.2985C>G (p.Pro995=) rs144172824
NM_205836.3(FBXO38):c.2997C>T (p.Arg999=) rs1581309331
NM_205836.3(FBXO38):c.3021G>A (p.Gln1007=)
NM_205836.3(FBXO38):c.3025-18_3025-17del
NM_205836.3(FBXO38):c.3025-18_3025-17insA
NM_205836.3(FBXO38):c.3051G>A (p.Lys1017=) rs1422351313
NM_205836.3(FBXO38):c.3066C>T (p.Pro1022=) rs895981912
NM_205836.3(FBXO38):c.3069C>T (p.Tyr1023=)
NM_205836.3(FBXO38):c.30A>G (p.Thr10=)
NM_205836.3(FBXO38):c.3170+9C>T
NM_205836.3(FBXO38):c.3177C>T (p.Leu1059=)
NM_205836.3(FBXO38):c.3210A>C (p.Arg1070=)
NM_205836.3(FBXO38):c.3246C>T (p.Pro1082=) rs959005458
NM_205836.3(FBXO38):c.3264T>C (p.Tyr1088=)
NM_205836.3(FBXO38):c.3274+10T>C
NM_205836.3(FBXO38):c.3274+16T>C
NM_205836.3(FBXO38):c.3274+19T>G
NM_205836.3(FBXO38):c.3275-13A>G
NM_205836.3(FBXO38):c.3275-20A>G
NM_205836.3(FBXO38):c.3275-4T>C
NM_205836.3(FBXO38):c.3312C>T (p.Asp1104=) rs2113671150
NM_205836.3(FBXO38):c.333C>T (p.His111=)
NM_205836.3(FBXO38):c.3366C>T (p.Tyr1122=)
NM_205836.3(FBXO38):c.3369C>T (p.Asp1123=) rs2113671331
NM_205836.3(FBXO38):c.3384A>G (p.Glu1128=)
NM_205836.3(FBXO38):c.3388+12C>A rs2113671439
NM_205836.3(FBXO38):c.3388+20A>C
NM_205836.3(FBXO38):c.3388+7A>G rs2113671422
NM_205836.3(FBXO38):c.3423G>C (p.Leu1141=) rs1754712234
NM_205836.3(FBXO38):c.345T>G (p.Leu115=)
NM_205836.3(FBXO38):c.3519C>T (p.Ile1173=)
NM_205836.3(FBXO38):c.3528T>C (p.Cys1176=) rs1168641854
NM_205836.3(FBXO38):c.3555T>C (p.Asp1185=)
NM_205836.3(FBXO38):c.3558C>T (p.Asp1186=)
NM_205836.3(FBXO38):c.396A>G (p.Leu132=)
NM_205836.3(FBXO38):c.417A>T (p.Pro139=)
NM_205836.3(FBXO38):c.427-18T>C
NM_205836.3(FBXO38):c.432G>A (p.Val144=) rs911073783
NM_205836.3(FBXO38):c.451T>C (p.Leu151=) rs2113533109
NM_205836.3(FBXO38):c.474T>C (p.Tyr158=) rs2113533186
NM_205836.3(FBXO38):c.51T>C (p.Ile17=) rs751405536
NM_205836.3(FBXO38):c.525T>C (p.Phe175=)
NM_205836.3(FBXO38):c.534T>C (p.Pro178=)
NM_205836.3(FBXO38):c.547C>T (p.Leu183=)
NM_205836.3(FBXO38):c.592+9A>G
NM_205836.3(FBXO38):c.593-19T>C
NM_205836.3(FBXO38):c.593-19T>G
NM_205836.3(FBXO38):c.606T>G (p.Pro202=)
NM_205836.3(FBXO38):c.711C>T (p.Phe237=) rs199969692
NM_205836.3(FBXO38):c.712G>A (p.Val238Ile) rs144890577
NM_205836.3(FBXO38):c.730+14A>G
NM_205836.3(FBXO38):c.730+17A>G
NM_205836.3(FBXO38):c.730+8T>G
NM_205836.3(FBXO38):c.731-12T>C
NM_205836.3(FBXO38):c.731-20A>C
NM_205836.3(FBXO38):c.753T>C (p.Tyr251=)
NM_205836.3(FBXO38):c.783C>T (p.Ala261=) rs764322313
NM_205836.3(FBXO38):c.786A>G (p.Arg262=)
NM_205836.3(FBXO38):c.789C>T (p.Asn263=) rs2113547963
NM_205836.3(FBXO38):c.798C>T (p.His266=) rs2113547993
NM_205836.3(FBXO38):c.811C>A (p.Arg271=)
NM_205836.3(FBXO38):c.862A>C (p.Arg288=)
NM_205836.3(FBXO38):c.868+12_868+15del rs2113548210
NM_205836.3(FBXO38):c.868+15T>C
NM_205836.3(FBXO38):c.869-12C>A
NM_205836.3(FBXO38):c.888C>T (p.His296=)
NM_205836.3(FBXO38):c.933T>G (p.Leu311=)
NM_205836.3(FBXO38):c.942C>T (p.Leu314=)
NM_205836.3(FBXO38):c.962+12C>G
NM_205836.3(FBXO38):c.962+20T>C rs2113558593
NM_205836.3(FBXO38):c.963-16C>G
NM_213720.3(CHCHD10):c.129G>A (p.Gly43=)
NM_213720.3(CHCHD10):c.134T>A (p.Met45Lys)
NM_213720.3(CHCHD10):c.159A>G (p.Ala53=)
NM_213720.3(CHCHD10):c.162G>T (p.Gly54=)
NM_213720.3(CHCHD10):c.168C>G (p.Ala56=) rs13053635
NM_213720.3(CHCHD10):c.207G>A (p.Leu69=)
NM_213720.3(CHCHD10):c.21C>T (p.Ser7=) rs984321947
NM_213720.3(CHCHD10):c.228G>T (p.Gly76=)
NM_213720.3(CHCHD10):c.231C>T (p.Ser77=)
NM_213720.3(CHCHD10):c.234G>C (p.Ser78=)
NM_213720.3(CHCHD10):c.24G>A (p.Ala8=) rs1926992574
NM_213720.3(CHCHD10):c.261+10G>C
NM_213720.3(CHCHD10):c.261+17A>G rs754940184
NM_213720.3(CHCHD10):c.261+7A>G rs2145926622
NM_213720.3(CHCHD10):c.262-13A>G
NM_213720.3(CHCHD10):c.262-14C>T rs1419450340
NM_213720.3(CHCHD10):c.262-18C>T
NM_213720.3(CHCHD10):c.267C>T (p.Pro89=)
NM_213720.3(CHCHD10):c.354C>T (p.Asp118=)
NM_213720.3(CHCHD10):c.357G>T (p.Leu119=)
NM_213720.3(CHCHD10):c.361C>T (p.Leu121=)
NM_213720.3(CHCHD10):c.384C>T (p.Ala128=)
NM_213720.3(CHCHD10):c.409+11G>C
NM_213720.3(CHCHD10):c.409+15C>G
NM_213720.3(CHCHD10):c.409+17C>T
NM_213720.3(CHCHD10):c.409+18G>A
NM_213720.3(CHCHD10):c.41+17G>A
NM_213720.3(CHCHD10):c.41+8G>A
NM_213720.3(CHCHD10):c.41+9G>A
NM_213720.3(CHCHD10):c.410-10C>T
NM_213720.3(CHCHD10):c.410-13C>T
NM_213720.3(CHCHD10):c.410-15C>G
NM_213720.3(CHCHD10):c.410-8del rs759453467
NM_213720.3(CHCHD10):c.412C>T (p.Leu138=)
NM_213720.3(CHCHD10):c.42-10A>G
NM_213720.3(CHCHD10):c.42-15C>T
NM_213720.3(CHCHD10):c.42-18T>C
NM_213720.3(CHCHD10):c.42-4G>T
NM_213720.3(CHCHD10):c.42-5C>G rs868345557
NM_213720.3(CHCHD10):c.42-5C>T rs868345557
NM_213720.3(CHCHD10):c.42-5del rs1926955562
NM_213720.3(CHCHD10):c.42-9C>T
NM_213720.3(CHCHD10):c.421C>T (p.Leu141=)
NM_213720.3(CHCHD10):c.48A>T (p.Pro16=)
NM_213720.3(CHCHD10):c.54G>A (p.Ala18=) rs1344583612
NM_213720.3(CHCHD10):c.57C>T (p.Pro19=) rs1381948310
NM_213720.3(CHCHD10):c.69G>A (p.Pro23=)
NM_213720.3(CHCHD10):c.72C>A (p.Pro24=)
NM_213720.3(CHCHD10):c.75G>A (p.Ala25=)
NM_213720.3(CHCHD10):c.75G>C (p.Ala25=)
NM_213720.3(CHCHD10):c.84G>T (p.Pro28=)
NM_213720.3(CHCHD10):c.9G>A (p.Arg3=) rs1165025561

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