ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2086
Download table as spreadsheet
HGVS dbSNP
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000166.6(GJB1):c.*18C>G
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.261A>G (p.Pro87=) rs376994837
NM_000166.6(GJB1):c.30C>T (p.Leu10=) rs183702021
NM_000166.6(GJB1):c.441C>T (p.Ala147=) rs765686240
NM_000166.6(GJB1):c.462T>C (p.Tyr154=) rs879254098
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326
NM_000166.6(GJB1):c.627G>T (p.Val209=) rs376113695
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000166.6(GJB1):c.807C>T (p.Thr269=) rs750620543
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) rs748095080
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=) rs771833491
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) rs754413995
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=) rs1469438575
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=) rs202033889
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) rs114605439
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=) rs200029453
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) rs143938936
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=) rs140956564
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=) rs115550028
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=) rs113379621
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=) rs752971320
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=) rs149875730
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=) rs760741593
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=) rs146715254
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=) rs767268083
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267
NM_000263.4(NAGLU):c.282C>T (p.Arg94=) rs866267579
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.351G>T (p.Val117=) rs1436378685
NM_000263.4(NAGLU):c.383+7C>T rs768602711
NM_000263.4(NAGLU):c.48C>T (p.Ala16=) rs1312488945
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) rs375661192
NM_000263.4(NAGLU):c.708C>T (p.Phe236=) rs770221835
NM_000263.4(NAGLU):c.723G>A (p.Val241=) rs140945842
NM_000263.4(NAGLU):c.764+10C>T rs372400832
NM_000263.4(NAGLU):c.780C>T (p.Val260=) rs1411789843
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu) rs199625480
NM_000263.4(NAGLU):c.873C>T (p.Ile291=) rs146734024
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=) rs1599258507
NM_000263.4(NAGLU):c.9_14GGTGGC[3] (p.4_5VA[3]) rs1024697806
NM_000304.4(PMP22):c.*105_*109CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*1111G>T rs7415
NM_000304.4(PMP22):c.*1120T>C rs11654383
NM_000304.4(PMP22):c.*228G>A rs1804193
NM_000304.4(PMP22):c.*26T>C rs200563670
NM_000304.4(PMP22):c.*525_*526CT[1] rs71699667
NM_000304.4(PMP22):c.*577T>C rs7538
NM_000304.4(PMP22):c.*828G>A rs13027
NM_000304.4(PMP22):c.-141C>G rs560442424
NM_000304.4(PMP22):c.152A>G (p.His51Arg) rs368908933
NM_000304.4(PMP22):c.178+7C>A rs147885521
NM_000304.4(PMP22):c.320-4C>T rs377467465
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.354G>T (p.Thr118=)
NM_000304.4(PMP22):c.366G>A (p.Pro122=) rs372723732
NM_000304.4(PMP22):c.402C>T (p.Phe134=)
NM_000304.4(PMP22):c.477C>T (p.Arg159=)
NM_000304.4(PMP22):c.79-6C>T rs201682989
NM_000304.4(PMP22):c.87C>T (p.Ile29=) rs201192820
NM_000371.3(TTR):c.336+19G>A rs75517067
NM_000371.3(TTR):c.384C>T (p.Ala128=) rs143906738
NM_000371.3(TTR):c.70-19G>A rs548935944
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343
NM_000371.4(TTR):c.201-3T>C
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.4(TTR):c.337-13T>C rs762691667
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000371.4(TTR):c.75C>T (p.Thr25=)
NM_000399.5(EGR2):c.-1A>G rs553201646
NM_000399.5(EGR2):c.1242G>A (p.Lys414=) rs554456422
NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp) rs138967272
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.1395G>A (p.Pro465=) rs779811073
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014
NM_000399.5(EGR2):c.210G>A (p.Ser70=)
NM_000399.5(EGR2):c.222A>C (p.Pro74=)
NM_000399.5(EGR2):c.222A>G (p.Pro74=) rs201068734
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487
NM_000399.5(EGR2):c.645G>A (p.Thr215=)
NM_000399.5(EGR2):c.774G>A (p.Val258=)
NM_000399.5(EGR2):c.789T>C (p.Thr263=)
NM_000399.5(EGR2):c.816C>A (p.Thr272=) rs863224359
NM_000399.5(EGR2):c.843C>T (p.Thr281=)
NM_000530.8(MPZ):c.*1048A>T rs71639057
NM_000530.8(MPZ):c.*195G>T rs150182811
NM_000530.8(MPZ):c.*1C>T
NM_000530.8(MPZ):c.*52G>A rs774701563
NM_000530.8(MPZ):c.*568C>G rs60731755
NM_000530.8(MPZ):c.*743C>T rs140992541
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.174C>T (p.Val58=)
NM_000530.8(MPZ):c.24C>T (p.Ser8=) rs144841836
NM_000530.8(MPZ):c.42G>A (p.Leu14=)
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910
NM_000530.8(MPZ):c.531C>T (p.Tyr177=)
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.645+10A>G
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760
NM_001005360.2(DNM2):c.1071C>T (p.Ser357=) rs779241319
NM_001005360.2(DNM2):c.1095C>A (p.Ile365=) rs746959606
NM_001005360.2(DNM2):c.1101C>T (p.His367=) rs768651920
NM_001005360.2(DNM2):c.1377C>T (p.Ile459=) rs369345296
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala) rs201575500
NM_001005360.2(DNM2):c.1422+9C>T rs199952853
NM_001005360.2(DNM2):c.1437C>T (p.Ile479=) rs146506201
NM_001005360.2(DNM2):c.162-7C>T rs148318860
NM_001005360.2(DNM2):c.1773G>A (p.Thr591=) rs201604679
NM_001005360.2(DNM2):c.177C>T (p.Arg59=) rs762795230
NM_001005360.2(DNM2):c.1782-4G>A rs767424969
NM_001005360.2(DNM2):c.1782-4G>C rs767424969
NM_001005360.2(DNM2):c.1837G>A (p.Val613Met) rs748286191
NM_001005360.2(DNM2):c.2031G>A (p.Lys677=) rs768285660
NM_001005360.2(DNM2):c.2136G>T (p.Ser712=) rs1555716924
NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr) rs142963320
NM_001005360.2(DNM2):c.2253T>C (p.Pro751=) rs200155565
NM_001005360.2(DNM2):c.2313G>A (p.Pro771=) rs147463138
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) rs148790687
NM_001005360.2(DNM2):c.2418G>A (p.Ala806=) rs200968756
NM_001005360.2(DNM2):c.2562G>A (p.Ala854=) rs761141093
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=) rs373161548
NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn) rs375151459
NM_001005360.2(DNM2):c.33G>A (p.Pro11=) rs779502758
NM_001005360.2(DNM2):c.384C>T (p.His128=) rs201089328
NM_001005360.2(DNM2):c.480C>T (p.Ile160=) rs140036663
NM_001005360.2(DNM2):c.528C>T (p.Pro176=) rs147579870
NM_001005360.2(DNM2):c.555C>T (p.Asp185=) rs140788791
NM_001005360.2(DNM2):c.633C>T (p.Asp211=) rs200191870
NM_001005360.2(DNM2):c.645C>T (p.Asp215=) rs148900299
NM_001005360.2(DNM2):c.750A>G (p.Ala250=) rs202214529
NM_001005360.2(DNM2):c.81C>T (p.Cys27=) rs534605878
NM_001005360.2(DNM2):c.822G>A (p.Thr274=) rs201763720
NM_001005360.2(DNM2):c.839C>T (p.Thr280Met) rs202155679
NM_001005360.2(DNM2):c.876G>A (p.Ser292=) rs749140605
NM_001005360.2(DNM2):c.882G>A (p.Pro294=) rs144790170
NM_001005360.2(DNM2):c.90C>T (p.Asp30=) rs759919549
NM_001005361.3(DNM2):c.1188T>C (p.His396=) rs1039592560
NM_001005361.3(DNM2):c.1196+625C>T rs542089703
NM_001005361.3(DNM2):c.1196+628G>C rs374376619
NM_001005361.3(DNM2):c.1196+652C>T rs377319162
NM_001005361.3(DNM2):c.1423-8T>C rs1599583116
NM_001005361.3(DNM2):c.1558-9T>G rs748026953
NM_001005361.3(DNM2):c.1608C>T (p.Gly536=) rs774973372
NM_001005361.3(DNM2):c.161+12_161+29dup rs750378486
NM_001005361.3(DNM2):c.1965C>T (p.Thr655=) rs201972896
NM_001005361.3(DNM2):c.2312C>T (p.Pro771Leu) rs202060910
NM_001005361.3(DNM2):c.2514C>T (p.Ile838=) rs200782592
NM_001005361.3(DNM2):c.2607C>T (p.Leu869=) rs144472798
NM_001005361.3(DNM2):c.315C>T (p.Thr105=) rs111837150
NM_001005361.3(DNM2):c.453C>T (p.Asp151=) rs201681441
NM_001005361.3(DNM2):c.514C>T (p.Leu172=) rs1599530007
NM_001005361.3(DNM2):c.642C>G (p.Thr214=) rs752944817
NM_001005361.3(DNM2):c.807C>T (p.Ala269=) rs752361306
NM_001005361.3(DNM2):c.900A>G (p.Leu300=) rs1599552753
NM_001005361.3(DNM2):c.936G>A (p.Glu312=) rs949106319
NM_001136473.1(LITAF):c.*1978A>G rs759832566
NM_001136473.1(LITAF):c.*50C>T rs748118642
NM_001136473.1(LITAF):c.108T>G (p.Pro36=) rs140990446
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.147G>A (p.Thr49=) rs145659732
NM_001136473.1(LITAF):c.179C>T (p.Ser60Leu) rs765644026
NM_001136473.1(LITAF):c.221-16C>T
NM_001136473.1(LITAF):c.240C>T (p.Tyr80=) rs149184234
NM_001136473.1(LITAF):c.241G>A (p.Val81Met) rs201653834
NM_001136473.1(LITAF):c.27G>A (p.Ala9=) rs149518815
NM_001136473.1(LITAF):c.32C>T (p.Thr11Ile) rs200702853
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) rs139116481
NM_001136473.1(LITAF):c.351G>C (p.Leu117=) rs372220196
NM_001136473.1(LITAF):c.357C>T (p.Cys119=) rs549492447
NM_001136473.1(LITAF):c.377+13C>G rs200357430
NM_001136473.1(LITAF):c.377+3G>A
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.45A>G (p.Ser15=) rs112192052
NM_001136473.1(LITAF):c.51A>G (p.Pro17=) rs751525365
NM_001136473.1(LITAF):c.54C>T (p.Ser18=) rs150211233
NM_001136473.1(LITAF):c.6G>A (p.Ser2=) rs147187481
NM_001142386.3(PDK3):c.1083T>C (p.Leu361=) rs746261967
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782
NM_001142386.3(PDK3):c.249-8C>T rs1231289510
NM_001142386.3(PDK3):c.336G>C (p.Leu112=) rs372442017
NM_001142386.3(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142386.3(PDK3):c.751-10A>G rs372774822
NM_001243571.2(MTMR2):c.354+11T>C rs182582445
NM_001303256.3(MORC2):c.1308C>T (p.Tyr436=) rs768240412
NM_001303256.3(MORC2):c.153T>C (p.Tyr51=) rs566259942
NM_001303256.3(MORC2):c.1668G>A (p.Thr556=) rs759248549
NM_001303256.3(MORC2):c.1754G>A (p.Arg585His) rs137983239
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=) rs146972491
NM_001303256.3(MORC2):c.1929G>A (p.Lys643=) rs1555937681
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile) rs144493873
NM_001303256.3(MORC2):c.2232T>C (p.Asp744=) rs775654284
NM_001303256.3(MORC2):c.2319G>A (p.Ser773=) rs377574758
NM_001303256.3(MORC2):c.2319G>C (p.Ser773=) rs377574758
NM_001303256.3(MORC2):c.2381-7T>C rs754758325
NM_001303256.3(MORC2):c.2559A>G (p.Lys853=) rs773690053
NM_001303256.3(MORC2):c.2667C>T (p.Ser889=) rs565441094
NM_001303256.3(MORC2):c.2709C>T (p.Thr903=) rs141374674
NM_001303256.3(MORC2):c.2724C>T (p.Ile908=) rs147997704
NM_001303256.3(MORC2):c.276T>C (p.Pro92=) rs142640132
NM_001303256.3(MORC2):c.2928C>T (p.Ser976=) rs376140991
NM_001303256.3(MORC2):c.2949C>T (p.Ser983=) rs372404658
NM_001303256.3(MORC2):c.300C>T (p.Tyr100=) rs777775099
NM_001303256.3(MORC2):c.3015G>C (p.Leu1005=) rs765411579
NM_001303256.3(MORC2):c.3030+7C>T rs766942597
NM_001303256.3(MORC2):c.3030+8C>T rs376367685
NM_001303256.3(MORC2):c.3081C>A (p.Leu1027=) rs149110760
NM_001303256.3(MORC2):c.309G>A (p.Gly103=) rs372357681
NM_001303256.3(MORC2):c.342T>C (p.Asp114=) rs770837363
NM_001303256.3(MORC2):c.399G>A (p.Thr133=) rs141171446
NM_001303256.3(MORC2):c.405T>C (p.His135=) rs144582460
NM_001303256.3(MORC2):c.684G>A (p.Thr228=) rs534900451
NM_001303256.3(MORC2):c.732C>T (p.Ala244=) rs371351399
NM_001303256.3(MORC2):c.774T>C (p.His258=) rs747931761
NM_001303256.3(MORC2):c.870G>A (p.Gln290=) rs766060409
NM_001303256.3(MORC2):c.927A>G (p.Ala309=) rs1291021388
NM_001303256.3(MORC2):c.975G>A (p.Thr325=) rs201903402
NM_001365951.3(KIF1B):c.107-11T>G
NM_001365951.3(KIF1B):c.107-13T>C
NM_001365951.3(KIF1B):c.1180+13A>G
NM_001365951.3(KIF1B):c.1180+19G>A
NM_001365951.3(KIF1B):c.1435-9C>T
NM_001365951.3(KIF1B):c.1671-4T>C
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=)
NM_001365951.3(KIF1B):c.2043-4C>T
NM_001365951.3(KIF1B):c.2358+9C>T
NM_001365951.3(KIF1B):c.252C>T (p.His84=)
NM_001365951.3(KIF1B):c.2537+15A>G
NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=) rs200858074
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=) rs749154726
NM_001365951.3(KIF1B):c.3422+18T>C
NM_001365951.3(KIF1B):c.3688+7_3688+8dup
NM_001365951.3(KIF1B):c.3798-15G>A
NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=)
NM_001365951.3(KIF1B):c.4305-17T>A
NM_001365951.3(KIF1B):c.4524C>T (p.Thr1508=) rs373636782
NM_001365951.3(KIF1B):c.4946+10C>T
NM_001365951.3(KIF1B):c.4947-13C>G
NM_001365951.3(KIF1B):c.5097-11G>T
NM_001365951.3(KIF1B):c.5097-9C>T rs376873833
NM_001365951.3(KIF1B):c.522T>C (p.Leu174=)
NM_001365951.3(KIF1B):c.5409-16C>T
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=)
NM_001365951.3(KIF1B):c.608+14T>G
NM_001365951.3(KIF1B):c.609-10G>A
NM_001365951.3(KIF1B):c.654C>T (p.His218=)
NM_001365951.3(KIF1B):c.78C>T (p.Cys26=) rs772548887
NM_001376.5(DYNC1H1):c.-13C>G rs537857759
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.5(DYNC1H1):c.10083C>T (p.Asp3361=) rs772665813
NM_001376.5(DYNC1H1):c.10131C>T (p.Tyr3377=) rs1555411373
NM_001376.5(DYNC1H1):c.10198-4C>A rs1555411389
NM_001376.5(DYNC1H1):c.10212C>T (p.Asp3404=) rs371853975
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.5(DYNC1H1):c.1035G>A (p.Leu345=) rs993263559
NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=) rs184264124
NM_001376.5(DYNC1H1):c.10414-13G>A rs17541421
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=) rs138887857
NM_001376.5(DYNC1H1):c.10473A>G (p.Lys3491=) rs201109134
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=) rs548760128
NM_001376.5(DYNC1H1):c.10548C>T (p.Tyr3516=) rs760532492
NM_001376.5(DYNC1H1):c.10626+12G>A
NM_001376.5(DYNC1H1):c.10626+7A>G rs1427174553
NM_001376.5(DYNC1H1):c.1062A>G (p.Arg354=)
NM_001376.5(DYNC1H1):c.10650G>A (p.Thr3550=) rs143068719
NM_001376.5(DYNC1H1):c.10754+10C>T
NM_001376.5(DYNC1H1):c.10878A>G (p.Ala3626=) rs1407178236
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=) rs368621706
NM_001376.5(DYNC1H1):c.10995G>A (p.Gly3665=)
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500
NM_001376.5(DYNC1H1):c.11046G>A (p.Arg3682=) rs370397467
NM_001376.5(DYNC1H1):c.11112C>T (p.Thr3704=)
NM_001376.5(DYNC1H1):c.11139A>G (p.Leu3713=) rs143642514
NM_001376.5(DYNC1H1):c.11361G>A (p.Thr3787=) rs145320071
NM_001376.5(DYNC1H1):c.11365A>G (p.Ile3789Val)
NM_001376.5(DYNC1H1):c.11388C>T (p.Thr3796=) rs149806996
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) rs182767009
NM_001376.5(DYNC1H1):c.11424C>T (p.Cys3808=)
NM_001376.5(DYNC1H1):c.11460+12G>A rs17512790
NM_001376.5(DYNC1H1):c.11461-9_11461-8insG rs762712158
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=) rs200735835
NM_001376.5(DYNC1H1):c.11595+20C>T
NM_001376.5(DYNC1H1):c.11596-20G>A rs372623721
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873
NM_001376.5(DYNC1H1):c.11646C>G (p.Thr3882=)
NM_001376.5(DYNC1H1):c.11697C>T (p.Pro3899=) rs950073137
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) rs17540735
NM_001376.5(DYNC1H1):c.11802G>C (p.Ala3934=) rs151307859
NM_001376.5(DYNC1H1):c.11823T>G (p.Leu3941=) rs368243780
NM_001376.5(DYNC1H1):c.11862C>T (p.Asp3954=) rs140543419
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
NM_001376.5(DYNC1H1):c.11892C>T (p.Ser3964=) rs757869882
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519
NM_001376.5(DYNC1H1):c.12102+20C>T
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.5(DYNC1H1):c.12103-9T>C rs939623360
NM_001376.5(DYNC1H1):c.12117T>C (p.Thr4039=) rs368830742
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095
NM_001376.5(DYNC1H1):c.12264A>C (p.Val4088=) rs1041126638
NM_001376.5(DYNC1H1):c.12270G>A (p.Ser4090=) rs549895432
NM_001376.5(DYNC1H1):c.12276-17T>C
NM_001376.5(DYNC1H1):c.12276-5T>C rs1555412076
NM_001376.5(DYNC1H1):c.12276-6G>A rs1595631975
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=)
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=) rs1260546515
NM_001376.5(DYNC1H1):c.12441C>T (p.Phe4147=) rs146075696
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=) rs749647281
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=) rs200375220
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839
NM_001376.5(DYNC1H1):c.12513+17C>T rs368189529
NM_001376.5(DYNC1H1):c.12519C>T (p.Pro4173=) rs1489755183
NM_001376.5(DYNC1H1):c.12580T>C (p.Leu4194=) rs753248251
NM_001376.5(DYNC1H1):c.12584G>A (p.Arg4195Gln) rs140013253
NM_001376.5(DYNC1H1):c.12588C>T (p.Tyr4196=) rs749876358
NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=) rs143936619
NM_001376.5(DYNC1H1):c.12654G>A (p.Thr4218=) rs747207435
NM_001376.5(DYNC1H1):c.12663G>A (p.Thr4221=) rs145849008
NM_001376.5(DYNC1H1):c.12663G>T (p.Thr4221=) rs145849008
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293
NM_001376.5(DYNC1H1):c.12765C>T (p.Arg4255=) rs780271275
NM_001376.5(DYNC1H1):c.12849G>A (p.Lys4283=) rs751398567
NM_001376.5(DYNC1H1):c.12864C>T (p.Val4288=) rs1264893844
NM_001376.5(DYNC1H1):c.12939C>T (p.Pro4313=) rs151172467
NM_001376.5(DYNC1H1):c.12954C>G (p.Pro4318=) rs766459266
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=) rs767564445
NM_001376.5(DYNC1H1):c.1299G>A (p.Leu433=) rs1566997875
NM_001376.5(DYNC1H1):c.13059C>T (p.Asp4353=) rs773232010
NM_001376.5(DYNC1H1):c.13071C>T (p.Tyr4357=) rs763227557
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_001376.5(DYNC1H1):c.13113C>T (p.Asp4371=) rs372518648
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val)
NM_001376.5(DYNC1H1):c.13176C>T (p.Pro4392=) rs766805479
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055
NM_001376.5(DYNC1H1):c.13192C>T (p.Leu4398Phe) rs144570049
NM_001376.5(DYNC1H1):c.13203C>A (p.Thr4401=) rs138022242
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=) rs138022242
NM_001376.5(DYNC1H1):c.13218+18G>A
NM_001376.5(DYNC1H1):c.13260C>T (p.Gly4420=) rs777922418
NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys) rs142883042
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.5(DYNC1H1):c.13372+14C>T
NM_001376.5(DYNC1H1):c.13404G>T (p.Thr4468=)
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673
NM_001376.5(DYNC1H1):c.13470G>A (p.Gln4490=) rs780553042
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713
NM_001376.5(DYNC1H1):c.13515+9G>A rs374678076
NM_001376.5(DYNC1H1):c.13516-18G>C
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=) rs35546990
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg) rs761881469
NM_001376.5(DYNC1H1):c.13684+9A>G rs1475798561
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.13749C>T (p.Thr4583=) rs746971715
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834
NM_001376.5(DYNC1H1):c.13808G>T (p.Ser4603Ile) rs200731839
NM_001376.5(DYNC1H1):c.13867G>A (p.Asp4623Asn) rs750353606
NM_001376.5(DYNC1H1):c.13869C>T (p.Asp4623=)
NM_001376.5(DYNC1H1):c.13887G>A (p.Lys4629=) rs141961494
NM_001376.5(DYNC1H1):c.13899C>T (p.Arg4633=)
NM_001376.5(DYNC1H1):c.13920C>T (p.Val4640=) rs573332348
NM_001376.5(DYNC1H1):c.1410A>G (p.Arg470=) rs1060504508
NM_001376.5(DYNC1H1):c.150C>G (p.Ala50=) rs372404851
NM_001376.5(DYNC1H1):c.1695C>T (p.Thr565=) rs748689506
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810
NM_001376.5(DYNC1H1):c.1797G>A (p.Gly599=) rs1022735666
NM_001376.5(DYNC1H1):c.1860C>T (p.His620=) rs749887344
NM_001376.5(DYNC1H1):c.1911C>T (p.His637=) rs376398498
NM_001376.5(DYNC1H1):c.1929T>C (p.Pro643=) rs1555408339
NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=) rs140154194
NM_001376.5(DYNC1H1):c.2028C>T (p.His676=) rs758895614
NM_001376.5(DYNC1H1):c.2040G>A (p.Gln680=) rs1555408347
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu) rs745510694
NM_001376.5(DYNC1H1):c.2115G>A (p.Lys705=) rs1555408353
NM_001376.5(DYNC1H1):c.2133C>T (p.Leu711=) rs774360588
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.5(DYNC1H1):c.2277C>T (p.Arg759=) rs577000800
NM_001376.5(DYNC1H1):c.2346C>T (p.Ile782=) rs375810066
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963
NM_001376.5(DYNC1H1):c.2539-9T>C rs750362256
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=) rs1595601645
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=) rs75113705
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.5(DYNC1H1):c.2719-9_2719-7del rs566271356
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994
NM_001376.5(DYNC1H1):c.2778T>C (p.Leu926=) rs1277515928
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376.5(DYNC1H1):c.318C>T (p.Asp106=) rs752702437
NM_001376.5(DYNC1H1):c.3210C>T (p.Asn1070=) rs1595605306
NM_001376.5(DYNC1H1):c.3334-4T>C rs368422942
NM_001376.5(DYNC1H1):c.3378G>A (p.Glu1126=)
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=) rs772761222
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844
NM_001376.5(DYNC1H1):c.345-4T>G rs1060504510
NM_001376.5(DYNC1H1):c.3480G>A (p.Thr1160=) rs776275624
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313
NM_001376.5(DYNC1H1):c.355A>G (p.Ile119Val) rs953641294
NM_001376.5(DYNC1H1):c.369C>T (p.Pro123=) rs372944247
NM_001376.5(DYNC1H1):c.3804+9C>T rs377635872
NM_001376.5(DYNC1H1):c.4074+11A>T rs368040742
NM_001376.5(DYNC1H1):c.4075-5G>A rs750127672
NM_001376.5(DYNC1H1):c.4075-6C>T rs377411812
NM_001376.5(DYNC1H1):c.4095C>G (p.Ala1365=) rs753684857
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=) rs112261870
NM_001376.5(DYNC1H1):c.4296C>G (p.Gly1432=) rs150374820
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val) rs141561289
NM_001376.5(DYNC1H1):c.4341G>A (p.Lys1447=) rs780278262
NM_001376.5(DYNC1H1):c.438C>T (p.Tyr146=) rs764884119
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531
NM_001376.5(DYNC1H1):c.4428C>T (p.Asp1476=) rs756763142
NM_001376.5(DYNC1H1):c.4429T>C (p.Leu1477=) rs555992808
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188
NM_001376.5(DYNC1H1):c.4543-7C>T rs1555409395
NM_001376.5(DYNC1H1):c.457A>G (p.Ile153Val) rs140905741
NM_001376.5(DYNC1H1):c.4699C>A (p.Arg1567=) rs377013246
NM_001376.5(DYNC1H1):c.4732C>T (p.Leu1578=) rs143297786
NM_001376.5(DYNC1H1):c.4749C>T (p.Ser1583=) rs374033335
NM_001376.5(DYNC1H1):c.4866G>A (p.Glu1622=) rs376805489
NM_001376.5(DYNC1H1):c.501G>A (p.Glu167=) rs1555407893
NM_001376.5(DYNC1H1):c.5050-15T>C rs190979027
NM_001376.5(DYNC1H1):c.5146C>T (p.Leu1716=) rs1595611257
NM_001376.5(DYNC1H1):c.5166G>T (p.Thr1722=) rs369232191
NM_001376.5(DYNC1H1):c.519-17A>G
NM_001376.5(DYNC1H1):c.519-3dup
NM_001376.5(DYNC1H1):c.5292C>T (p.Thr1764=)
NM_001376.5(DYNC1H1):c.5294C>T (p.Ala1765Val) rs150687712
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853
NM_001376.5(DYNC1H1):c.5443T>C (p.Leu1815=) rs1445493379
NM_001376.5(DYNC1H1):c.546T>G (p.Val182=) rs762857766
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=) rs769577090
NM_001376.5(DYNC1H1):c.561A>G (p.Ala187=) rs774395446
NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=)
NM_001376.5(DYNC1H1):c.5668T>C (p.Leu1890=)
NM_001376.5(DYNC1H1):c.5698C>T (p.Leu1900=) rs371157224
NM_001376.5(DYNC1H1):c.5700G>A (p.Leu1900=) rs552313071
NM_001376.5(DYNC1H1):c.5721T>G (p.Pro1907=) rs1555409674
NM_001376.5(DYNC1H1):c.5874C>T (p.Asp1958=) rs142726284
NM_001376.5(DYNC1H1):c.5970C>T (p.Tyr1990=) rs751526144
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001376.5(DYNC1H1):c.6222-20C>A rs200368499
NM_001376.5(DYNC1H1):c.6228C>T (p.Cys2076=) rs201113072
NM_001376.5(DYNC1H1):c.6240C>G (p.Leu2080=)
NM_001376.5(DYNC1H1):c.6264C>T (p.Phe2088=) rs778348555
NM_001376.5(DYNC1H1):c.6267T>A (p.Gly2089=) rs374997831
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=) rs776544497
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=) rs759525537
NM_001376.5(DYNC1H1):c.6399A>G (p.Glu2133=) rs769782375
NM_001376.5(DYNC1H1):c.6406-4G>C rs374602014
NM_001376.5(DYNC1H1):c.646G>A (p.Val216Ile) rs1595597624
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=) rs147905977
NM_001376.5(DYNC1H1):c.6619-19G>A rs747037096
NM_001376.5(DYNC1H1):c.668G>A (p.Arg223His) rs561761105
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) rs200339812
NM_001376.5(DYNC1H1):c.6846C>T (p.His2282=) rs770017263
NM_001376.5(DYNC1H1):c.6857+10_6857+12del rs773209855
NM_001376.5(DYNC1H1):c.6909C>T (p.Phe2303=) rs138326082
NM_001376.5(DYNC1H1):c.6981G>A (p.Leu2327=) rs1555410008
NM_001376.5(DYNC1H1):c.7068G>T (p.Val2356=) rs188714917
NM_001376.5(DYNC1H1):c.7071G>A (p.Ser2357=) rs375808105
NM_001376.5(DYNC1H1):c.7135C>T (p.Leu2379=)
NM_001376.5(DYNC1H1):c.7179G>A (p.Glu2393=)
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=)
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=) rs587780330
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720
NM_001376.5(DYNC1H1):c.7275G>A (p.Pro2425=) rs141665695
NM_001376.5(DYNC1H1):c.7284G>A (p.Thr2428=) rs762065704
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) rs112811548
NM_001376.5(DYNC1H1):c.7296G>C (p.Leu2432=)
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530
NM_001376.5(DYNC1H1):c.7317C>T (p.His2439=) rs200197781
NM_001376.5(DYNC1H1):c.7404C>T (p.Asn2468=) rs1221226371
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr) rs766837403
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
NM_001376.5(DYNC1H1):c.7437C>T (p.Phe2479=) rs757950114
NM_001376.5(DYNC1H1):c.7566G>A (p.Thr2522=) rs747067301
NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=) rs201720217
NM_001376.5(DYNC1H1):c.7848+13G>A
NM_001376.5(DYNC1H1):c.78C>T (p.Asp26=) rs760083766
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) rs201272954
NM_001376.5(DYNC1H1):c.8097A>G (p.Thr2699=) rs772002773
NM_001376.5(DYNC1H1):c.8178-19C>T
NM_001376.5(DYNC1H1):c.8178-8G>C rs758234041
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) rs202023896
NM_001376.5(DYNC1H1):c.8262C>T (p.Ala2754=)
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.5(DYNC1H1):c.8343+9_8343+10del
NM_001376.5(DYNC1H1):c.8401A>C (p.Arg2801=) rs771269792
NM_001376.5(DYNC1H1):c.840C>T (p.Asn280=) rs775490854
NM_001376.5(DYNC1H1):c.8427G>A (p.Ala2809=) rs534435923
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=) rs146220233
NM_001376.5(DYNC1H1):c.8547C>T (p.Asn2849=) rs149526821
NM_001376.5(DYNC1H1):c.8551G>A (p.Asp2851Asn) rs780522040
NM_001376.5(DYNC1H1):c.8556G>A (p.Thr2852=) rs370808839
NM_001376.5(DYNC1H1):c.855A>G (p.Leu285=)
NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=)
NM_001376.5(DYNC1H1):c.8637+9C>T rs202042156
NM_001376.5(DYNC1H1):c.8638-7T>C rs201446705
NM_001376.5(DYNC1H1):c.8638-7dup
NM_001376.5(DYNC1H1):c.8754C>T (p.His2918=) rs758989267
NM_001376.5(DYNC1H1):c.8772-13C>T
NM_001376.5(DYNC1H1):c.8772-7G>A rs758936427
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.8862C>T (p.Asn2954=) rs755723273
NM_001376.5(DYNC1H1):c.9048+16G>A
NM_001376.5(DYNC1H1):c.9072C>T (p.Asp3024=)
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=) rs145208135
NM_001376.5(DYNC1H1):c.9108G>A (p.Gly3036=) rs1555410937
NM_001376.5(DYNC1H1):c.9171G>A (p.Gln3057=) rs201041097
NM_001376.5(DYNC1H1):c.9180C>T (p.Arg3060=) rs1555410949
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995
NM_001376.5(DYNC1H1):c.9249A>G (p.Pro3083=) rs1555410963
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762
NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=) rs371538443
NM_001376.5(DYNC1H1):c.939C>T (p.Thr313=) rs572233805
NM_001376.5(DYNC1H1):c.9402G>A (p.Pro3134=) rs145095254
NM_001376.5(DYNC1H1):c.9468+9A>G
NM_001376.5(DYNC1H1):c.9471G>T (p.Ala3157=)
NM_001376.5(DYNC1H1):c.9495C>T (p.Gly3165=) rs763139389
NM_001376.5(DYNC1H1):c.951C>T (p.Asp317=) rs1306216043
NM_001376.5(DYNC1H1):c.9564C>T (p.His3188=) rs202053613
NM_001376.5(DYNC1H1):c.9573G>A (p.Arg3191=) rs1555411131
NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=) rs2295445
NM_001376.5(DYNC1H1):c.9642+4C>A rs773101138
NM_001376.5(DYNC1H1):c.9654G>A (p.Leu3218=) rs1595624407
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350
NM_001376.5(DYNC1H1):c.9780C>T (p.Ile3260=) rs1486174617
NM_001376.5(DYNC1H1):c.9960G>A (p.Ala3320=) rs746026558
NM_001540.5(HSPB1):c.*20A>C
NM_001540.5(HSPB1):c.*22C>T
NM_001540.5(HSPB1):c.-19C>T rs199602956
NM_001540.5(HSPB1):c.-4C>T rs372833436
NM_001540.5(HSPB1):c.-5C>T
NM_001540.5(HSPB1):c.108C>G (p.Pro36=)
NM_001540.5(HSPB1):c.110G>C (p.Arg37Pro)
NM_001540.5(HSPB1):c.129G>A (p.Ser43=) rs764071304
NM_001540.5(HSPB1):c.138A>G (p.Leu46=) rs757180608
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.5(HSPB1):c.204G>C (p.Val68=) rs1554614462
NM_001540.5(HSPB1):c.240A>G (p.Gln80=) rs377246178
NM_001540.5(HSPB1):c.243C>T (p.Leu81=) rs1478776061
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) rs201769668
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) rs777201941
NM_001540.5(HSPB1):c.318G>C (p.Pro106=) rs750349055
NM_001540.5(HSPB1):c.339C>G (p.Thr113=) rs751064405
NM_001540.5(HSPB1):c.364+10C>A rs577343607
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364+9_364+20del
NM_001540.5(HSPB1):c.365-5C>T rs368936457
NM_001540.5(HSPB1):c.365-5del rs759570569
NM_001540.5(HSPB1):c.365-5dup
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.365-7C>G rs201897299
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.428+13G>T
NM_001540.5(HSPB1):c.429-7C>T rs375972376
NM_001540.5(HSPB1):c.438C>T (p.Pro146=) rs7805625
NM_001540.5(HSPB1):c.498G>A (p.Glu166=) rs148357753
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936
NM_001540.5(HSPB1):c.504C>T (p.Pro168=) rs866382696
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767
NM_001605.2(AARS1):c.*213C>T rs150625194
NM_001605.2(AARS1):c.1410C>T (p.Ile470=) rs79785372
NM_001605.2(AARS1):c.1509G>A (p.Val503=) rs138406510
NM_001605.2(AARS1):c.1671+10C>T rs184240527
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.2(AARS1):c.1824G>A (p.Thr608=) rs199644417
NM_001605.2(AARS1):c.2178-14G>A rs371633904
NM_001605.2(AARS1):c.2217C>T (p.Ile739=) rs770980206
NM_001605.2(AARS1):c.2459A>G (p.Lys820Arg) rs147319762
NM_001605.2(AARS1):c.2521-3C>T rs200586605
NM_001605.2(AARS1):c.2580G>A (p.Leu860=) rs145581652
NM_001605.2(AARS1):c.2700G>A (p.Thr900=) rs140814462
NM_001605.2(AARS1):c.2732A>G (p.Asn911Ser) rs746822330
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser) rs149377346
NM_001605.2(AARS1):c.2900A>T (p.Lys967Met) rs35744709
NM_001605.2(AARS1):c.600C>T (p.Ala200=) rs150080663
NM_001605.3(AARS1):c.1656T>C (p.Asp552=)
NM_001605.3(AARS1):c.2019G>C (p.Leu673=)
NM_001605.3(AARS1):c.2592C>T (p.Ser864=) rs11537665
NM_001605.3(AARS1):c.2730C>T (p.Ala910=) rs199839663
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr) rs147187788
NM_002047.4(GARS1):c.-14A>G
NM_002047.4(GARS1):c.-36C>A rs531483802
NM_002047.4(GARS1):c.1031+14T>G rs189589556
NM_002047.4(GARS1):c.1032-14G>A
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850
NM_002047.4(GARS1):c.1158C>T (p.Ser386=) rs373576697
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.129G>T (p.Pro43=)
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002047.4(GARS1):c.1644A>G (p.Thr548=)
NM_002047.4(GARS1):c.1700-13A>G
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239
NM_002047.4(GARS1):c.1737C>T (p.Phe579=) rs752464405
NM_002047.4(GARS1):c.1743G>C (p.Leu581=) rs370844461
NM_002047.4(GARS1):c.1809+13G>A
NM_002047.4(GARS1):c.1809+14T>C rs367739730
NM_002047.4(GARS1):c.1809+16C>T
NM_002047.4(GARS1):c.1809+8G>C
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731
NM_002047.4(GARS1):c.1904-18T>C rs41275991
NM_002047.4(GARS1):c.1904-19C>T
NM_002047.4(GARS1):c.1904-19del rs745958570
NM_002047.4(GARS1):c.1923T>C (p.His641=) rs182542046
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799
NM_002047.4(GARS1):c.282A>G (p.Ala94=)
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483
NM_002047.4(GARS1):c.428-17C>T rs370452042
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys) rs373326652
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968
NM_002047.4(GARS1):c.766G>C (p.Asp256His) rs201399681
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002047.4(GARS1):c.816A>G (p.Leu272=) rs777128525
NM_002047.4(GARS1):c.881+17G>A
NM_002047.4(GARS1):c.882-15T>G rs199741850
NM_002180.2(IGHMBP2):c.*6C>T rs117995705
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005
NM_002180.2(IGHMBP2):c.1032G>A (p.Ser344=) rs779452908
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231
NM_002180.2(IGHMBP2):c.1060+10C>T rs200170825
NM_002180.2(IGHMBP2):c.1060+8G>T rs201147313
NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146
NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831
NM_002180.2(IGHMBP2):c.1143C>T (p.Leu381=) rs145314949
NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202
NM_002180.2(IGHMBP2):c.1197C>T (p.Gly399=) rs377631839
NM_002180.2(IGHMBP2):c.1236-10C>T rs778515935
NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955
NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780
NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=) rs78807992
NM_002180.2(IGHMBP2):c.1418+11C>T rs201279838
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907
NM_002180.2(IGHMBP2):c.1482C>T (p.Ala494=) rs773180915
NM_002180.2(IGHMBP2):c.1515C>T (p.Asp505=) rs538496164
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002180.2(IGHMBP2):c.1551C>T (p.Leu517=) rs150549628
NM_002180.2(IGHMBP2):c.1596C>T (p.Ala532=) rs988590959
NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316
NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His) rs201692151
NM_002180.2(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061
NM_002180.2(IGHMBP2):c.1821C>T (p.His607=) rs34658653
NM_002180.2(IGHMBP2):c.1845T>A (p.Arg615=) rs370850999
NM_002180.2(IGHMBP2):c.1848T>C (p.Thr616=) rs1164401206
NM_002180.2(IGHMBP2):c.1932C>T (p.Asp644=) rs769397483
NM_002180.2(IGHMBP2):c.1938T>C (p.Ile646=) rs1555247978
NM_002180.2(IGHMBP2):c.1998C>T (p.Pro666=) rs1308205831
NM_002180.2(IGHMBP2):c.2139C>T (p.Asn713=) rs199879444
NM_002180.2(IGHMBP2):c.2157A>G (p.Gly719=) rs774145467
NM_002180.2(IGHMBP2):c.222C>T (p.Ser74=) rs139237340
NM_002180.2(IGHMBP2):c.2286C>T (p.Ala762=) rs149684358
NM_002180.2(IGHMBP2):c.2295C>T (p.His765=) rs149185954
NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772
NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765
NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153
NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=) rs371840404
NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.2(IGHMBP2):c.2545G>A (p.Ala849Thr) rs2228208
NM_002180.2(IGHMBP2):c.2611+7C>T rs1343219004
NM_002180.2(IGHMBP2):c.2612-14C>T rs200940488
NM_002180.2(IGHMBP2):c.2612-15G>A rs372230504
NM_002180.2(IGHMBP2):c.2612-16C>T rs200337900
NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179
NM_002180.2(IGHMBP2):c.2619G>A (p.Pro873=) rs373001247
NM_002180.2(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407
NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133
NM_002180.2(IGHMBP2):c.2715C>T (p.Gly905=) rs779293148
NM_002180.2(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105
NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138
NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp) rs373943338
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485
NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.2976G>A (p.Gly992=) rs755792559
NM_002180.2(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861
NM_002180.2(IGHMBP2):c.362C>T (p.Ser121Phe) rs2228205
NM_002180.2(IGHMBP2):c.548-10T>G rs139207271
NM_002180.2(IGHMBP2):c.548-20C>T rs368802434
NM_002180.2(IGHMBP2):c.639T>C (p.His213=) rs764495455
NM_002180.2(IGHMBP2):c.711+8G>A rs1403938196
NM_002180.2(IGHMBP2):c.714T>C (p.Val238=) rs755582766
NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=) rs147409148
NM_002180.2(IGHMBP2):c.87-19A>G rs183650590
NM_002180.2(IGHMBP2):c.954T>C (p.Asn318=) rs1482496537
NM_002180.3(IGHMBP2):c.*18C>T
NM_002180.3(IGHMBP2):c.1061-19G>A
NM_002180.3(IGHMBP2):c.1185C>T (p.Cys395=) rs756733490
NM_002180.3(IGHMBP2):c.1236-5C>T rs191443556
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=) rs370367228
NM_002180.3(IGHMBP2):c.1537+9G>C
NM_002180.3(IGHMBP2):c.1538-11_1538-8del
NM_002180.3(IGHMBP2):c.1538-19G>A
NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=) rs746241618
NM_002180.3(IGHMBP2):c.2070C>G (p.Ala690=)
NM_002180.3(IGHMBP2):c.243C>T (p.Asn81=) rs1594415602
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=) rs746248057
NM_002180.3(IGHMBP2):c.256+7G>A rs1312545588
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=)
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=)
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) rs145631247
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=)
NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=) rs150937080
NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=)
NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=) rs1594418098
NM_002180.3(IGHMBP2):c.450-13T>C
NM_002180.3(IGHMBP2):c.548-19G>A
NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=) rs770943023
NM_002180.3(IGHMBP2):c.86+7G>C rs527948004
NM_002180.3(IGHMBP2):c.993G>A (p.Lys331=) rs1594431729
NM_002529.3(NTRK1):c.574+1G>A rs1232901259
NM_002972.4(SBF1):c.219C>T (p.Ile73=) rs750211528
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) rs373529561
NM_002972.4(SBF1):c.3905-9C>T rs574807761
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=) rs570393243
NM_002972.4(SBF1):c.898-4G>A rs377428323
NM_003680.3(YARS1):c.1008G>A (p.Leu336=) rs140232925
NM_003680.3(YARS1):c.1079C>A (p.Pro360Gln) rs562054969
NM_003680.3(YARS1):c.1080A>G (p.Pro360=) rs752514117
NM_003680.3(YARS1):c.1141-9C>G rs761211081
NM_003680.3(YARS1):c.1179C>T (p.Asp393=) rs373909518
NM_003680.3(YARS1):c.1228G>A (p.Val410Met) rs146393022
NM_003680.3(YARS1):c.1246C>A (p.Gln416Lys) rs76611863
NM_003680.3(YARS1):c.1291A>T (p.Met431Leu) rs149620809
NM_003680.3(YARS1):c.1486A>G (p.Lys496Glu) rs200375230
NM_003680.3(YARS1):c.381-6C>T rs376982377
NM_003680.3(YARS1):c.471G>A (p.Glu157=) rs1569769936
NM_003680.3(YARS1):c.483G>C (p.Leu161=) rs780528629
NM_003680.3(YARS1):c.507G>A (p.Leu169=) rs200278380
NM_003680.3(YARS1):c.510+10G>C rs201272488
NM_003680.3(YARS1):c.511-10C>T rs376935793
NM_003680.3(YARS1):c.546A>G (p.Gln182=) rs751440666
NM_003680.3(YARS1):c.681A>G (p.Glu227=) rs370095798
NM_003680.3(YARS1):c.684+3A>G rs375332060
NM_003680.3(YARS1):c.946G>A (p.Ala316Thr) rs138454151
NM_004208.4(AIFM1):c.*20C>A
NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) rs781350745
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929
NM_004208.4(AIFM1):c.1574-20G>T
NM_004208.4(AIFM1):c.1782C>T (p.Asp594=)
NM_004208.4(AIFM1):c.249+1258T>C
NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys)
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) rs373609902
NM_004208.4(AIFM1):c.939C>T (p.Ser313=)
NM_004637.5(RAB7A):c.180+9A>G rs762831187
NM_004637.5(RAB7A):c.183A>C (p.Ile61=) rs376642691
NM_004637.5(RAB7A):c.213G>A (p.Gln71=) rs140299645
NM_004637.5(RAB7A):c.21G>A (p.Val7=) rs140857794
NM_004637.5(RAB7A):c.321C>T (p.Leu107=) rs749227632
NM_004637.5(RAB7A):c.414G>T (p.Arg138=) rs754928233
NM_004637.5(RAB7A):c.552C>T (p.Asn184=) rs143140848
NM_004637.5(RAB7A):c.87G>A (p.Val29=) rs145441548
NM_004637.6(RAB7A):c.*1026G>A
NM_004637.6(RAB7A):c.*1141C>T
NM_004637.6(RAB7A):c.180+7A>G rs1235702497
NM_004637.6(RAB7A):c.400-17C>G
NM_004637.6(RAB7A):c.529-11T>G
NM_004637.6(RAB7A):c.603G>A (p.Ser201=) rs61748098
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=)
NM_004945.3(DNM2):c.162-6del rs766449694
NM_004990.4(MARS1):c.1095C>T (p.Ile365=) rs1555167079
NM_004990.4(MARS1):c.110-10C>T rs113549256
NM_004990.4(MARS1):c.1294-5C>T rs149946100
NM_004990.4(MARS1):c.132C>T (p.Thr44=) rs1555165361
NM_004990.4(MARS1):c.1368+15C>T
NM_004990.4(MARS1):c.1369-14C>T
NM_004990.4(MARS1):c.1369-7A>C rs377050640
NM_004990.4(MARS1):c.1636-9T>C rs373186969
NM_004990.4(MARS1):c.1731G>A (p.Leu577=)
NM_004990.4(MARS1):c.1754-4C>A rs377361080
NM_004990.4(MARS1):c.2112C>T (p.Ala704=)
NM_004990.4(MARS1):c.2163G>C (p.Val721=) rs762587995
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165
NM_004990.4(MARS1):c.2204+10C>T rs376636502
NM_004990.4(MARS1):c.2256C>G (p.Leu752=) rs201540140
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721
NM_004990.4(MARS1):c.2392-8T>A
NM_004990.4(MARS1):c.2472G>A (p.Thr824=) rs1594838097
NM_004990.4(MARS1):c.2491G>A (p.Val831Ile) rs199773459
NM_004990.4(MARS1):c.2511C>G (p.Ala837=) rs780483586
NM_004990.4(MARS1):c.2557-12C>G
NM_004990.4(MARS1):c.2557-13C>A
NM_004990.4(MARS1):c.2557-13C>G
NM_004990.4(MARS1):c.2557-14C>T
NM_004990.4(MARS1):c.2613G>A (p.Ala871=) rs373439522
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser) rs35843015
NM_004990.4(MARS1):c.280-13C>T
NM_004990.4(MARS1):c.414+8G>A
NM_004990.4(MARS1):c.415-5C>A rs747351446
NM_004990.4(MARS1):c.42G>T (p.Pro14=) rs144002827
NM_004990.4(MARS1):c.496C>T (p.Leu166=) rs760702485
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588
NM_004990.4(MARS1):c.630C>T (p.Pro210=) rs143741525
NM_004990.4(MARS1):c.663+11G>A
NM_004990.4(MARS1):c.663+20C>T
NM_004990.4(MARS1):c.663+8A>C rs199843552
NM_004990.4(MARS1):c.66C>T (p.Ala22=) rs200471304
NM_004990.4(MARS1):c.680C>T (p.Thr227Ile) rs73344082
NM_004990.4(MARS1):c.747G>A (p.Pro249=) rs200490364
NM_004990.4(MARS1):c.771-15C>G rs201328384
NM_004990.4(MARS1):c.792G>A (p.Arg264=) rs141609469
NM_004990.4(MARS1):c.831T>C (p.Asn277=) rs367995771
NM_004990.4(MARS1):c.887+17G>A rs201259473
NM_004990.4(MARS1):c.887+17G>C
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) rs139661803
NM_004990.4(MARS1):c.915C>T (p.Thr305=) rs199641659
NM_005340.7(HINT1):c.111+6_111+7insC rs770851222
NM_005391.5(PDK3):c.249-14T>G
NM_005391.5(PDK3):c.249-9dup
NM_005391.5(PDK3):c.674-11T>C
NM_006070.6(TFG):c.1048G>A (p.Ala350Thr) rs543542721
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala) rs111356679
NM_006070.6(TFG):c.1116C>T (p.Thr372=) rs1576389880
NM_006070.6(TFG):c.1146G>A (p.Ala382=) rs761808737
NM_006070.6(TFG):c.1199G>A (p.Arg400Gln) rs963151000
NM_006070.6(TFG):c.185-10T>A rs79631225
NM_006070.6(TFG):c.185-9A>T rs778438842
NM_006070.6(TFG):c.457T>G (p.Ser153Ala) rs140466338
NM_006070.6(TFG):c.57G>A (p.Glu19=) rs1576353054
NM_006070.6(TFG):c.621C>T (p.Pro207=) rs141786985
NM_006070.6(TFG):c.663C>T (p.Gly221=) rs140669729
NM_006070.6(TFG):c.672A>C (p.Pro224=) rs141412018
NM_006070.6(TFG):c.741C>T (p.Tyr247=) rs1576379547
NM_006070.6(TFG):c.771G>A (p.Gln257=) rs374006808
NM_006070.6(TFG):c.774G>A (p.Pro258=) rs1367793822
NM_006070.6(TFG):c.908C>T (p.Ala303Val) rs1576389064
NM_006070.6(TFG):c.988A>G (p.Thr330Ala) rs145835282
NM_006096.3(NDRG1):c.*1473G>A rs187466317
NM_006096.3(NDRG1):c.*1622T>G rs7825439
NM_006096.3(NDRG1):c.*264C>G rs73711834
NM_006096.3(NDRG1):c.*653T>C rs147301529
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2]) rs751274009
NM_006096.3(NDRG1):c.1077_1106dup (p.340_349TRSRSHTSEG[4]) rs1554747463
NM_006096.3(NDRG1):c.1086C>T (p.Ser362=) rs1189614460
NM_006096.3(NDRG1):c.1101C>T (p.Ser367=) rs201959970
NM_006096.3(NDRG1):c.1134G>A (p.Ser378=) rs750369546
NM_006096.3(NDRG1):c.1152C>T (p.Ser384=) rs863224413
NM_006096.3(NDRG1):c.1155C>T (p.Ala385=) rs774605205
NM_006096.3(NDRG1):c.129T>C (p.Ser43=) rs758024351
NM_006096.3(NDRG1):c.199A>G (p.Met67Val) rs2233319
NM_006096.3(NDRG1):c.303C>T (p.Asp101=) rs765528167
NM_006096.3(NDRG1):c.306C>T (p.Gly102=) rs2233322
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) rs2233328
NM_006096.3(NDRG1):c.389+8C>T rs375532877
NM_006096.3(NDRG1):c.393G>A (p.Leu131=) rs149767690
NM_006096.3(NDRG1):c.507G>A (p.Ala169=) rs2233331
NM_006096.3(NDRG1):c.528C>G (p.Ala176=) rs191237702
NM_006096.3(NDRG1):c.594+8G>T rs767524421
NM_006096.3(NDRG1):c.660C>A (p.Asn220Lys) rs143549909
NM_006096.3(NDRG1):c.663C>T (p.Pro221=) rs377225752
NM_006096.3(NDRG1):c.69C>A (p.Ile23=) rs369862936
NM_006096.3(NDRG1):c.755+9C>T rs756756059
NM_006096.3(NDRG1):c.789G>A (p.Ser263=) rs61755062
NM_006096.3(NDRG1):c.813G>A (p.Glu271=) rs368468160
NM_006096.3(NDRG1):c.861G>A (p.Ala287=) rs150101908
NM_006096.3(NDRG1):c.879G>A (p.Pro293=) rs2233340
NM_006096.3(NDRG1):c.892-9C>G rs987790520
NM_006096.3(NDRG1):c.93T>C (p.Asp31=) rs773317729
NM_006096.3(NDRG1):c.944-13C>T rs753312340
NM_006096.3(NDRG1):c.973C>A (p.Arg325=) rs141078746
NM_006096.3(NDRG1):c.973C>T (p.Arg325Trp) rs141078746
NM_006096.4(NDRG1):c.*377G>A
NM_006096.4(NDRG1):c.-18-2_-18-1del
NM_006096.4(NDRG1):c.100-3C>T
NM_006096.4(NDRG1):c.1053A>C (p.Arg351=)
NM_006096.4(NDRG1):c.1062C>G (p.Ser354=)
NM_006096.4(NDRG1):c.1092G>A (p.Ser364=) rs578199680
NM_006096.4(NDRG1):c.135C>T (p.His45=) rs146924327
NM_006096.4(NDRG1):c.165C>T (p.Asn55=) rs368056707
NM_006096.4(NDRG1):c.195C>T (p.Ile65=) rs747826464
NM_006096.4(NDRG1):c.206-17T>G
NM_006096.4(NDRG1):c.285C>T (p.Asp95=) rs777855380
NM_006096.4(NDRG1):c.306C>A (p.Gly102=) rs2233322
NM_006096.4(NDRG1):c.30C>T (p.Leu10=) rs758205425
NM_006096.4(NDRG1):c.321C>T (p.Pro107=) rs1403681249
NM_006096.4(NDRG1):c.389+13G>C
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val) rs202118022
NM_006096.4(NDRG1):c.438A>C (p.Leu146=) rs772535207
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) rs150796527
NM_006096.4(NDRG1):c.453A>G (p.Leu151=) rs776744445
NM_006096.4(NDRG1):c.528C>T (p.Ala176=) rs191237702
NM_006096.4(NDRG1):c.594+10G>A rs751843731
NM_006096.4(NDRG1):c.594+9C>T rs373172944
NM_006096.4(NDRG1):c.698+9A>G rs754728870
NM_006096.4(NDRG1):c.699-16C>G
NM_006096.4(NDRG1):c.702G>A (p.Arg234=) rs547082017
NM_006096.4(NDRG1):c.72C>T (p.Thr24=)
NM_006096.4(NDRG1):c.756-13T>C
NM_006096.4(NDRG1):c.756-5_756-4delinsTG
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)
NM_006096.4(NDRG1):c.856-5C>T rs767437478
NM_006096.4(NDRG1):c.856-9C>T rs772996128
NM_006096.4(NDRG1):c.892-11G>A
NM_006096.4(NDRG1):c.906T>G (p.Ala302=) rs572270834
NM_006096.4(NDRG1):c.975G>A (p.Arg325=) rs375099070
NM_006096.4(NDRG1):c.987C>T (p.Ala329=) rs778770054
NM_006096.4(NDRG1):c.999C>T (p.Ser333=) rs201505193
NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) rs551896980
NM_006158.4(NEFL):c.1011G>A (p.Glu337=) rs761206907
NM_006158.4(NEFL):c.1080C>T (p.Thr360=) rs760765563
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) rs140532785
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.1458C>T (p.Ala486=) rs61726486
NM_006158.4(NEFL):c.1461G>A (p.Glu487=) rs763418924
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) rs377121179
NM_006158.4(NEFL):c.207G>A (p.Glu69=) rs367732440
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.321C>G (p.Arg107=) rs1198042093
NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.4(NEFL):c.352C>T (p.Leu118=) rs1254381816
NM_006158.4(NEFL):c.423G>A (p.Gln141=) rs59161567
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.4(NEFL):c.584C>T (p.Ala195Val) rs185200977
NM_006158.4(NEFL):c.621C>G (p.Ala207=) rs763294014
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.4(NEFL):c.780C>T (p.Asp260=) rs878854817
NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=) rs1060504999
NM_006158.4(NEFL):c.855C>T (p.Thr285=) rs1065083
NM_006158.4(NEFL):c.984G>T (p.Ala328=) rs759524661
NM_006158.5(NEFL):c.*436T>G
NM_006158.5(NEFL):c.1086G>A (p.Lys362=)
NM_006158.5(NEFL):c.1169+14G>A
NM_006158.5(NEFL):c.1170-19C>T
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)
NM_006158.5(NEFL):c.1611A>G (p.Gln537=)
NM_006158.5(NEFL):c.30C>T (p.Tyr10=) rs1484620251
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
NM_006158.5(NEFL):c.360C>T (p.Ala120=) rs368829273
NM_006158.5(NEFL):c.420G>A (p.Glu140=) rs1586128713
NM_006158.5(NEFL):c.558G>A (p.Glu186=)
NM_006158.5(NEFL):c.612C>T (p.Leu204=)
NM_006158.5(NEFL):c.630G>A (p.Glu210=)
NM_006158.5(NEFL):c.678G>T (p.Val226=)
NM_006158.5(NEFL):c.86T>C (p.Val29Ala)
NM_006329.3(FBLN5):c.*423T>C rs17731705
NM_006329.3(FBLN5):c.*647C>T rs10197
NM_006329.3(FBLN5):c.-411A>G rs143296045
NM_006329.3(FBLN5):c.-57G>A rs546827390
NM_006329.3(FBLN5):c.1113G>A (p.Thr371=) rs560780691
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006329.3(FBLN5):c.604G>A (p.Gly202Arg) rs80338765
NM_006329.3(FBLN5):c.620-8T>C rs147699855
NM_006329.3(FBLN5):c.621T>C (p.Asp207=) rs200178859
NM_006329.3(FBLN5):c.714T>A (p.Leu238=) rs141152607
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.1254+8del
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904
NM_006415.4(SPTLC1):c.387C>T (p.Gly129=) rs141265918
NM_006415.4(SPTLC1):c.483C>T (p.Ala161=)
NM_006415.4(SPTLC1):c.560+16G>A rs73512337
NM_006415.4(SPTLC1):c.58-19G>C
NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=) rs150756641
NM_006415.4(SPTLC1):c.993C>T (p.Ser331=)
NM_006736.6(DNAJB2):c.*17G>T
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=) rs116719245
NM_006736.6(DNAJB2):c.249A>G (p.Ala83=) rs576058376
NM_006736.6(DNAJB2):c.264T>C (p.Gly88=)
NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys) rs139406455
NM_006736.6(DNAJB2):c.352+20C>G
NM_006736.6(DNAJB2):c.353-9T>G
NM_006736.6(DNAJB2):c.444C>T (p.Ser148=)
NM_006736.6(DNAJB2):c.446-17C>G
NM_006736.6(DNAJB2):c.620-19G>A
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu) rs148615702
NM_006736.6(DNAJB2):c.759G>A (p.Glu253=) rs775630178
NM_006736.6(DNAJB2):c.787C>T (p.Leu263=) rs140805390
NM_006736.6(DNAJB2):c.966C>G (p.Leu322=)
NM_014365.2(HSPB8):c.210C>T (p.Pro70=) rs1211866770
NM_014365.2(HSPB8):c.233G>T (p.Arg78Met) rs55826713
NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014365.2(HSPB8):c.432-10T>A rs368810689
NM_014365.2(HSPB8):c.48G>A (p.Leu16=) rs755586270
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys) rs148514935
NM_014365.2(HSPB8):c.503C>T (p.Ala168Val) rs373049356
NM_014629.4(ARHGEF10):c.2259+8T>C rs1015159398
NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile) rs61752020
NM_014629.4(ARHGEF10):c.2909C>T (p.Thr970Met) rs35925274
NM_014629.4(ARHGEF10):c.38-10T>C rs138713415
NM_014845.5(FIG4):c.*14C>T rs114136062
NM_014845.5(FIG4):c.102G>A (p.Thr34=) rs145711919
NM_014845.5(FIG4):c.1040-4T>C rs374343214
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.1271+5A>G rs374583399
NM_014845.5(FIG4):c.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1305G>C (p.Val435=) rs145227623
NM_014845.5(FIG4):c.1435-8C>T rs754607430
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
NM_014845.5(FIG4):c.1740T>C (p.Asn580=) rs1554304608
NM_014845.5(FIG4):c.1755C>T (p.Ala585=) rs377111248
NM_014845.5(FIG4):c.1809G>A (p.Gly603=) rs148280593
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
NM_014845.5(FIG4):c.1949-15C>T rs778444771
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.2115C>T (p.Thr705=) rs201271644
NM_014845.5(FIG4):c.2154A>G (p.Pro718=) rs201138266
NM_014845.5(FIG4):c.2199A>G (p.Glu733=) rs537464083
NM_014845.5(FIG4):c.2241G>C (p.Pro747=) rs148589135
NM_014845.5(FIG4):c.2289G>A (p.Gly763=) rs756539176
NM_014845.5(FIG4):c.2382G>A (p.Val794=) rs1201567620
NM_014845.5(FIG4):c.2459+7T>G rs575271308
NM_014845.5(FIG4):c.2523G>A (p.Arg841=) rs1554309865
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.5(FIG4):c.300G>A (p.Arg100=) rs368831195
NM_014845.5(FIG4):c.33G>C (p.Ser11=) rs527523781
NM_014845.5(FIG4):c.366T>C (p.His122=) rs772376305
NM_014845.5(FIG4):c.446+9G>A rs190287033
NM_014845.5(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_014845.5(FIG4):c.66+10C>T rs200063827
NM_014845.5(FIG4):c.705G>T (p.Leu235=) rs1026195072
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) rs61729092
NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) rs138048706
NM_014845.5(FIG4):c.870C>T (p.Asn290=) rs1236653957
NM_014845.5(FIG4):c.918C>T (p.Cys306=) rs369159531
NM_014845.6(FIG4):c.105A>G (p.Lys35=)
NM_014845.6(FIG4):c.1272-10C>T rs201293291
NM_014845.6(FIG4):c.1341T>C (p.Phe447=)
NM_014845.6(FIG4):c.1356T>C (p.Asp452=)
NM_014845.6(FIG4):c.1386A>G (p.Glu462=) rs764699770
NM_014845.6(FIG4):c.1536G>T (p.Leu512=)
NM_014845.6(FIG4):c.1620C>T (p.Thr540=) rs746367416
NM_014845.6(FIG4):c.1750+11A>C
NM_014845.6(FIG4):c.2097-10C>T rs142482745
NM_014845.6(FIG4):c.2180+20C>T
NM_014845.6(FIG4):c.2232C>T (p.Ser744=) rs760578430
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2319T>C (p.Ser773=)
NM_014845.6(FIG4):c.2377-18T>C
NM_014845.6(FIG4):c.2377-20_2377-19insCT
NM_014845.6(FIG4):c.2406T>C (p.Tyr802=) rs765557108
NM_014845.6(FIG4):c.252G>A (p.Ser84=)
NM_014845.6(FIG4):c.2568G>A (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.2574T>C (p.Asp858=) rs1583785957
NM_014845.6(FIG4):c.289+10C>A rs778732368
NM_014845.6(FIG4):c.289+17C>T
NM_014845.6(FIG4):c.351G>A (p.Ala117=) rs375963892
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) rs571563767
NM_014845.6(FIG4):c.42G>A (p.Lys14=) rs552856153
NM_014845.6(FIG4):c.447-16delinsTT
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937
NM_014845.6(FIG4):c.66+18G>A
NM_014845.6(FIG4):c.744G>A (p.Leu248=)
NM_014845.6(FIG4):c.876+8G>A rs923581334
NM_014874.3(MFN2):c.*15G>A rs141339523
NM_014874.3(MFN2):c.*221_*222dup rs558848411
NM_014874.3(MFN2):c.-149-15T>G rs114306601
NM_014874.3(MFN2):c.-249T>A rs2180182
NM_014874.3(MFN2):c.-287C>T rs2180181
NM_014874.3(MFN2):c.-4-13G>T rs373679523
NM_014874.3(MFN2):c.1269G>A (p.Thr423=) rs145994616
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.150C>A (p.Ile50=) rs78841746
NM_014874.3(MFN2):c.159C>T (p.Ser53=) rs61733200
NM_014874.3(MFN2):c.1641C>T (p.Leu547=) rs140924661
NM_014874.3(MFN2):c.165C>T (p.Thr55=) rs77458527
NM_014874.3(MFN2):c.1724G>A (p.Arg575His) rs564375950
NM_014874.3(MFN2):c.1806C>T (p.Ser602=) rs201258935
NM_014874.3(MFN2):c.1818C>T (p.Gly606=) rs373843969
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.3(MFN2):c.2112C>T (p.Asp704=) rs374371748
NM_014874.3(MFN2):c.2145C>T (p.Ala715=) rs571011689
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.2157G>A (p.Lys719=) rs148441213
NM_014874.3(MFN2):c.408A>T (p.Val136=) rs78814413
NM_014874.3(MFN2):c.444C>T (p.Thr148=) rs373038884
NM_014874.3(MFN2):c.564C>T (p.Cys188=) rs536007087
NM_014874.3(MFN2):c.58C>T (p.His20Tyr) rs201715603
NM_014874.3(MFN2):c.723C>T (p.Phe241=) rs764912025
NM_014874.3(MFN2):c.756C>T (p.Asn252=) rs137960129
NM_014874.3(MFN2):c.809T>C (p.Met270Thr) rs771996573
NM_014874.3(MFN2):c.870C>T (p.Gly290=) rs368302487
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.4(MFN2):c.1476C>T (p.Thr492=)
NM_014874.4(MFN2):c.1495+10del
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) rs376598131
NM_014874.4(MFN2):c.1717-12T>G
NM_014874.4(MFN2):c.1717-15T>C
NM_014874.4(MFN2):c.1815C>T (p.Thr605=) rs751029047
NM_014874.4(MFN2):c.2028C>T (p.Val676=)
NM_014874.4(MFN2):c.205G>A (p.Val69Ile)
NM_014874.4(MFN2):c.2069+18A>G
NM_014874.4(MFN2):c.2070-11C>T
NM_014874.4(MFN2):c.2070-8C>T
NM_014874.4(MFN2):c.2130G>A (p.Leu710=)
NM_014874.4(MFN2):c.2204+13C>T
NM_014874.4(MFN2):c.318C>T (p.Ser106=)
NM_014874.4(MFN2):c.708+10C>T
NM_015074.3(KIF1B):c.*2T>C rs148690591
NM_015074.3(KIF1B):c.1419T>C (p.Asp473=) rs146364486
NM_015074.3(KIF1B):c.1905-10_1905-9del rs58344165
NM_015074.3(KIF1B):c.2107T>C (p.Trp703Arg) rs551543997
NM_015074.3(KIF1B):c.2466C>T (p.Asp822=) rs145846362
NM_015074.3(KIF1B):c.2736C>T (p.Asp912=) rs150831576
NM_015074.3(KIF1B):c.2847C>T (p.Ile949=) rs150904940
NM_015074.3(KIF1B):c.3121+9A>G rs149566646
NM_015074.3(KIF1B):c.3497C>T (p.Pro1166Leu) rs141224290
NM_015074.3(KIF1B):c.3498G>A (p.Pro1166=) rs140229905
NM_015074.3(KIF1B):c.3726+6A>C rs114266141
NM_015074.3(KIF1B):c.4530C>T (p.Ser1510=) rs765541693
NM_015074.3(KIF1B):c.4615-9C>T rs375366137
NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys) rs143669846
NM_015271.5(TRIM2):c.1050C>T (p.Ala350=) rs1433209136
NM_015271.5(TRIM2):c.1074G>A (p.Thr358=) rs145538082
NM_015271.5(TRIM2):c.1143C>T (p.Asp381=) rs116472166
NM_015271.5(TRIM2):c.1161C>T (p.Thr387=) rs144994337
NM_015271.5(TRIM2):c.1179C>T (p.Thr393=) rs376619155
NM_015271.5(TRIM2):c.1206C>T (p.Ser402=) rs770558554
NM_015271.5(TRIM2):c.122G>A (p.Arg41His) rs146705057
NM_015271.5(TRIM2):c.1434G>T (p.Val478=) rs751706975
NM_015271.5(TRIM2):c.1518A>G (p.Lys506=) rs773419235
NM_015271.5(TRIM2):c.1615-7C>G rs201299149
NM_015271.5(TRIM2):c.1671G>T (p.Pro557=) rs150231451
NM_015271.5(TRIM2):c.1698G>A (p.Val566=) rs747022098
NM_015271.5(TRIM2):c.1740T>C (p.Asp580=) rs756285274
NM_015271.5(TRIM2):c.189C>T (p.Leu63=) rs558845725
NM_015271.5(TRIM2):c.2055G>A (p.Lys685=) rs138490175
NM_015271.5(TRIM2):c.2085G>A (p.Gln695=) rs141479735
NM_015271.5(TRIM2):c.2139C>T (p.Ala713=) rs773958934
NM_015271.5(TRIM2):c.2169T>C (p.Phe723=) rs148412849
NM_015271.5(TRIM2):c.444C>T (p.His148=) rs771241708
NM_015271.5(TRIM2):c.519C>T (p.His173=) rs114900176
NM_015271.5(TRIM2):c.605+10C>A rs891133657
NM_015271.5(TRIM2):c.605+9C>A rs532381432
NM_015271.5(TRIM2):c.786+10G>A rs1268924136
NM_015271.5(TRIM2):c.816C>T (p.Leu272=) rs149607572
NM_015271.5(TRIM2):c.879G>A (p.Thr293=) rs115191942
NM_015271.5(TRIM2):c.927C>T (p.Asn309=) rs142242737
NM_015271.5(TRIM2):c.969C>T (p.Asn323=) rs116365246
NM_016156.5(MTMR2):c.*1089C>G rs147982779
NM_016156.5(MTMR2):c.*1684A>C rs79576160
NM_016156.5(MTMR2):c.*2187A>G rs141738388
NM_016156.5(MTMR2):c.*837G>A rs532069328
NM_016156.5(MTMR2):c.1303T>C (p.Leu435=) rs767737380
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) rs139369561
NM_016156.5(MTMR2):c.1488C>T (p.Thr496=) rs112327353
NM_016156.5(MTMR2):c.1551C>T (p.Phe517=) rs775961979
NM_016156.5(MTMR2):c.1634A>G (p.Asn545Ser) rs558018
NM_016156.5(MTMR2):c.1741A>G (p.Ile581Val) rs149476960
NM_016156.5(MTMR2):c.1757G>A (p.Arg586Gln) rs61735576
NM_016156.5(MTMR2):c.1770+7_1770+19delinsC rs1555056865
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113
NM_016156.5(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638
NM_016156.5(MTMR2):c.186+9A>G rs371081575
NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152
NM_016156.5(MTMR2):c.240A>C (p.Pro80=) rs201920176
NM_016156.5(MTMR2):c.279T>C (p.Tyr93=) rs372937811
NM_016156.5(MTMR2):c.297C>T (p.Gly99=) rs772347980
NM_016156.5(MTMR2):c.469-9C>A rs779741464
NM_016156.5(MTMR2):c.507G>A (p.Gly169=) rs753188177
NM_016156.5(MTMR2):c.624A>G (p.Leu208=) rs979063255
NM_016156.5(MTMR2):c.655-7C>T rs775390447
NM_016156.5(MTMR2):c.75G>A (p.Leu25=) rs1376231939
NM_016156.6(MTMR2):c.-16C>T
NM_016156.6(MTMR2):c.1281C>A (p.Leu427=) rs199542109
NM_016156.6(MTMR2):c.1387-19T>G
NM_016156.6(MTMR2):c.1480-4G>C rs1590971136
NM_016156.6(MTMR2):c.1594-20C>A
NM_016156.6(MTMR2):c.1770+7G>C rs908222470
NM_016156.6(MTMR2):c.1770+9_1770+20del rs958180213
NM_016156.6(MTMR2):c.33C>T (p.Gly11=) rs777455436
NM_016156.6(MTMR2):c.358-39_358-16del
NM_016156.6(MTMR2):c.358-42_358-18del
NM_016156.6(MTMR2):c.654+5G>A
NM_016156.6(MTMR2):c.655-19T>C
NM_016156.6(MTMR2):c.684A>G (p.Thr228=)
NM_016156.6(MTMR2):c.984T>C (p.Val328=) rs116691712
NM_018972.4(GDAP1):c.*1006C>T
NM_018972.4(GDAP1):c.*1162T>C rs113017051
NM_018972.4(GDAP1):c.*1639A>G rs145245478
NM_018972.4(GDAP1):c.*1639A>T
NM_018972.4(GDAP1):c.*1701T>C rs781146378
NM_018972.4(GDAP1):c.*1819T>C
NM_018972.4(GDAP1):c.*2408G>A rs11996204
NM_018972.4(GDAP1):c.*723G>A
NM_018972.4(GDAP1):c.-19C>T
NM_018972.4(GDAP1):c.1045T>C (p.Leu349=) rs368943246
NM_018972.4(GDAP1):c.117+12C>G rs202059380
NM_018972.4(GDAP1):c.118-16G>A
NM_018972.4(GDAP1):c.120G>A (p.Val40=) rs1031865271
NM_018972.4(GDAP1):c.123C>T (p.Arg41=)
NM_018972.4(GDAP1):c.216C>T (p.Asn72=) rs760859999
NM_018972.4(GDAP1):c.21G>A (p.Glu7=) rs199612265
NM_018972.4(GDAP1):c.225A>G (p.Gly75=) rs761890773
NM_018972.4(GDAP1):c.310+6del rs780828430
NM_018972.4(GDAP1):c.310+8del rs1279865642
NM_018972.4(GDAP1):c.311-7A>G
NM_018972.4(GDAP1):c.33C>G (p.Ser11Arg) rs202010117
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) rs149804782
NM_018972.4(GDAP1):c.474A>G (p.Thr158=) rs202215041
NM_018972.4(GDAP1):c.492T>C (p.Ile164=)
NM_018972.4(GDAP1):c.609G>A (p.Lys203=)
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785
NM_018972.4(GDAP1):c.720C>T (p.Cys240=) rs367790253
NM_018972.4(GDAP1):c.72T>C (p.Val24=) rs142674939
NM_018972.4(GDAP1):c.744C>T (p.Asp248=) rs370099528
NM_018972.4(GDAP1):c.75G>A (p.Lys25=)
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) rs374624466
NM_018972.4(GDAP1):c.894T>C (p.Asn298=)
NM_018972.4(GDAP1):c.90T>C (p.His30=) rs555369956
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910
NM_020631.5(PLEKHG5):c.1019C>T (p.Ala340Val) rs72861528
NM_020631.5(PLEKHG5):c.1023G>A (p.Val341=) rs199903533
NM_020631.5(PLEKHG5):c.1098C>G (p.Leu366=) rs1553174372
NM_020631.5(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275
NM_020631.5(PLEKHG5):c.1302C>T (p.Pro434=) rs755428930
NM_020631.5(PLEKHG5):c.1371C>T (p.Asp457=) rs776561735
NM_020631.5(PLEKHG5):c.1545C>T (p.Ile515=) rs762389784
NM_020631.5(PLEKHG5):c.1575G>C (p.Val525=) rs1488054852
NM_020631.5(PLEKHG5):c.1614G>T (p.Leu538=) rs754624083
NM_020631.5(PLEKHG5):c.1647G>A (p.Glu549=) rs770781624
NM_020631.5(PLEKHG5):c.1681-8G>C rs139041955
NM_020631.5(PLEKHG5):c.1707C>T (p.Asp569=) rs1033319065
NM_020631.5(PLEKHG5):c.186G>A (p.Lys62=) rs372405586
NM_020631.5(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744
NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400
NM_020631.5(PLEKHG5):c.2034C>T (p.Thr678=) rs755808760
NM_020631.5(PLEKHG5):c.2049+10G>A rs1478987550
NM_020631.5(PLEKHG5):c.2056C>T (p.Leu686=) rs1569842648
NM_020631.5(PLEKHG5):c.2070T>C (p.Arg690=) rs141100808
NM_020631.5(PLEKHG5):c.2124G>A (p.Glu708=) rs370521517
NM_020631.5(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.5(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894
NM_020631.5(PLEKHG5):c.2226C>T (p.Ser742=) rs370761668
NM_020631.5(PLEKHG5):c.2319C>G (p.Pro773=) rs80031446
NM_020631.5(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443
NM_020631.5(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412
NM_020631.5(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137
NM_020631.5(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521
NM_020631.5(PLEKHG5):c.2538C>A (p.Ser846=) rs776995250
NM_020631.5(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509
NM_020631.5(PLEKHG5):c.2677G>A (p.Gly893Arg) rs200407689
NM_020631.5(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639
NM_020631.5(PLEKHG5):c.288G>T (p.Lys96Asn) rs575792064
NM_020631.5(PLEKHG5):c.2892C>G (p.Ala964=) rs1388065890
NM_020631.5(PLEKHG5):c.2916C>G (p.Pro972=) rs923660925
NM_020631.5(PLEKHG5):c.3011+9C>T rs144809602
NM_020631.5(PLEKHG5):c.307G>A (p.Val103Met) rs141032388
NM_020631.5(PLEKHG5):c.33T>C (p.Leu11=) rs144859183
NM_020631.5(PLEKHG5):c.399C>T (p.Phe133=) rs369888151
NM_020631.5(PLEKHG5):c.414C>T (p.Phe138=) rs375075005
NM_020631.5(PLEKHG5):c.474G>A (p.Glu158=) rs751440606
NM_020631.5(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021
NM_020631.5(PLEKHG5):c.509C>T (p.Pro170Leu) rs59117380
NM_020631.5(PLEKHG5):c.639G>A (p.Ala213=) rs560366406
NM_020631.5(PLEKHG5):c.64G>A (p.Val22Met) rs112530241
NM_020631.5(PLEKHG5):c.765C>T (p.Ser255=) rs566596803
NM_020631.5(PLEKHG5):c.768C>T (p.Ser256=) rs780935962
NM_020631.5(PLEKHG5):c.783C>T (p.Ser261=) rs61738905
NM_020631.5(PLEKHG5):c.882C>T (p.Phe294=) rs370572859
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.5(PLEKHG5):c.918C>T (p.Asp306=) rs111624565
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399
NM_020631.5(PLEKHG5):c.984+8C>T rs373560661
NM_020631.5(PLEKHG5):c.985-6C>T rs1371350296
NM_020631.5(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670
NM_020956.2(PRX):c.*1028C>A rs200033507
NM_020956.2(PRX):c.*1141A>G rs752086513
NM_020956.2(PRX):c.*1198G>A rs146323928
NM_020956.2(PRX):c.*1231A>C rs150772010
NM_020956.2(PRX):c.*1334G>T rs754081921
NM_020956.2(PRX):c.*1420C>T rs377184301
NM_020956.2(PRX):c.*1486C>T rs76960467
NM_020956.2(PRX):c.*1574G>A rs142064826
NM_020956.2(PRX):c.*1666G>A rs757009052
NM_020956.2(PRX):c.*1705A>G rs777104457
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.*1783G>A rs567690884
NM_020956.2(PRX):c.*1829C>T rs201337455
NM_020956.2(PRX):c.*1830G>A rs139586219
NM_020956.2(PRX):c.*1856G>A rs61733448
NM_020956.2(PRX):c.*2032C>T rs751816156
NM_020956.2(PRX):c.*2041C>T rs574899855
NM_020956.2(PRX):c.*2140C>T rs763132536
NM_020956.2(PRX):c.*2169C>T rs118003416
NM_020956.2(PRX):c.*2248C>T rs56743160
NM_020956.2(PRX):c.*2306G>A rs116855701
NM_020956.2(PRX):c.*2434C>T rs144975214
NM_020956.2(PRX):c.*2459G>A rs147587689
NM_020956.2(PRX):c.*2497C>T rs142637195
NM_020956.2(PRX):c.*2512G>A rs148655811
NM_020956.2(PRX):c.*2699G>C rs116139153
NM_020956.2(PRX):c.*2846C>A rs375201649
NM_020956.2(PRX):c.*2935C>T rs878855283
NM_020956.2(PRX):c.*2980C>T rs201792838
NM_020956.2(PRX):c.*3037T>C rs145226687
NM_020956.2(PRX):c.*3121G>T rs1555800751
NM_020956.2(PRX):c.*3315A>G rs148600818
NM_020956.2(PRX):c.*3350G>A rs186086914
NM_020956.2(PRX):c.*3493C>A rs375122789
NM_020956.2(PRX):c.*3571G>A rs952933935
NM_020956.2(PRX):c.*3578G>A rs148939995
NM_020956.2(PRX):c.*3580C>T rs755560307
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_020956.2(PRX):c.*3754C>T rs367876251
NM_020956.2(PRX):c.*3907C>T rs139950446
NM_020956.2(PRX):c.*3913G>A rs202119177
NM_020956.2(PRX):c.*4007G>C rs146061247
NM_020956.2(PRX):c.*4009C>T rs553825184
NM_020956.2(PRX):c.*4036C>G rs577796628
NM_020956.2(PRX):c.*4043G>C rs146205352
NM_020956.2(PRX):c.*4051G>A rs143289108
NM_020956.2(PRX):c.*4072C>T rs759245840
NM_020956.2(PRX):c.*4144G>A rs140109585
NM_020956.2(PRX):c.*4152C>T rs142762689
NM_020956.2(PRX):c.*4249G>C rs76088917
NM_020956.2(PRX):c.*4264_*4266GGA[5] rs139624657
NM_020956.2(PRX):c.*4357G>A rs756887163
NM_020956.2(PRX):c.*4429C>G rs1555800370
NM_020956.2(PRX):c.*4522C>T rs372280596
NM_020956.2(PRX):c.*4735C>T rs189487790
NM_020956.2(PRX):c.*650G>A rs142436391
NM_020956.2(PRX):c.*698C>T rs555499679
NM_020956.2(PRX):c.*704C>T rs10425452
NM_020956.2(PRX):c.*745G>A rs371243093
NM_020956.2(PRX):c.*759G>A rs76756143
NM_020956.2(PRX):c.*785C>T rs45521038
NM_020956.2(PRX):c.*802C>G rs144157275
NM_020956.2(PRX):c.*802C>T rs144157275
NM_020956.2(PRX):c.*847C>A rs551628239
NM_020956.2(PRX):c.*924G>A rs77917609
NM_020956.2(PRX):c.*936C>T rs118071705
NM_020956.2(PRX):c.*952C>T rs3814289
NM_020956.2(PRX):c.*976C>T rs1555801357
NM_020956.2(PRX):c.*999G>T rs374837022
NM_020956.2(PRX):c.-20A>C rs780315081
NM_020956.2(PRX):c.-236G>A rs552436076
NM_020956.2(PRX):c.102A>C (p.Val34=) rs761347226
NM_020956.2(PRX):c.185-6C>T rs747043680
NM_020956.2(PRX):c.185-8G>A rs768814221
NM_020956.2(PRX):c.185-9C>T rs1555801635
NM_020956.2(PRX):c.27+8C>A rs769214562
NM_020956.2(PRX):c.336G>A (p.Val112=) rs369268369
NM_021625.4(TRPV4):c.1062C>T (p.Ala354=) rs115446386
NM_021625.4(TRPV4):c.1074C>T (p.Pro358=) rs140040335
NM_021625.4(TRPV4):c.1093G>A (p.Val365Met) rs570675468
NM_021625.4(TRPV4):c.1104C>T (p.Asn368=) rs768593770
NM_021625.4(TRPV4):c.1116G>A (p.Ser372=) rs369811541
NM_021625.4(TRPV4):c.1139C>T (p.Thr380Met) rs764949536
NM_021625.4(TRPV4):c.1278G>A (p.Thr426=) rs139179261
NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) rs141244183
NM_021625.4(TRPV4):c.1337G>T (p.Arg446Leu) rs143502097
NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547
NM_021625.4(TRPV4):c.1398C>T (p.Phe466=) rs146929022
NM_021625.4(TRPV4):c.1449C>G (p.Val483=) rs1060504550
NM_021625.4(TRPV4):c.1455C>T (p.Phe485=) rs189872222
NM_021625.4(TRPV4):c.1464C>T (p.Thr488=) rs146841400
NM_021625.4(TRPV4):c.1479G>T (p.Pro493=) rs1337838267
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.152C>T (p.Pro51Leu) rs115861965
NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) rs141295418
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) rs115976458
NM_021625.4(TRPV4):c.1566C>G (p.Val522=) rs765724064
NM_021625.4(TRPV4):c.1584+12G>T rs375908611
NM_021625.4(TRPV4):c.1584+13C>T rs199712027
NM_021625.4(TRPV4):c.1584+1G>A rs775922797
NM_021625.4(TRPV4):c.15C>T (p.Ser5=) rs751824781
NM_021625.4(TRPV4):c.1611C>T (p.Cys537=) rs1407714132
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021625.4(TRPV4):c.1658+15C>T rs200083069
NM_021625.4(TRPV4):c.1729G>A (p.Val577Met) rs140535889
NM_021625.4(TRPV4):c.1824+4C>T rs147259744
NM_021625.4(TRPV4):c.1825-15C>G rs200602134
NM_021625.4(TRPV4):c.1825-15C>T rs200602134
NM_021625.4(TRPV4):c.1885G>A (p.Ala629Thr) rs200838499
NM_021625.4(TRPV4):c.1899C>T (p.Val633=) rs753027239
NM_021625.4(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.2151C>A (p.Leu717=) rs1555205372
NM_021625.4(TRPV4):c.2244C>T (p.Phe748=) rs1340974810
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) rs148171058
NM_021625.4(TRPV4):c.2289C>T (p.Thr763=) rs202036871
NM_021625.4(TRPV4):c.2295C>G (p.Gly765=) rs753038628
NM_021625.4(TRPV4):c.2304G>A (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919
NM_021625.4(TRPV4):c.2472G>A (p.Ser824=) rs149988106
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946
NM_021625.4(TRPV4):c.2508G>A (p.Ser836=) rs201884175
NM_021625.4(TRPV4):c.2514G>A (p.Pro838=) rs576688961
NM_021625.4(TRPV4):c.2517C>T (p.Asp839=) rs546957932
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.28G>C (p.Ala10Pro) rs376436045
NM_021625.4(TRPV4):c.300G>A (p.Lys100=) rs370135765
NM_021625.4(TRPV4):c.336C>A (p.Thr112=) rs969086736
NM_021625.4(TRPV4):c.387-6C>T rs775634013
NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg) rs201241092
NM_021625.4(TRPV4):c.501C>T (p.Asp167=) rs77680510
NM_021625.4(TRPV4):c.549G>A (p.Glu183=) rs141908793
NM_021625.4(TRPV4):c.650C>T (p.Ala217Val) rs548909101
NM_021625.4(TRPV4):c.712+10C>T rs115657305
NM_021625.4(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) rs56217500
NM_021625.4(TRPV4):c.854-4G>A rs371733585
NM_021625.4(TRPV4):c.898A>G (p.Ile300Val) rs114612488
NM_021625.4(TRPV4):c.903C>G (p.Val301=) rs748103823
NM_021625.4(TRPV4):c.936G>A (p.Ala312=) rs202084699
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_021625.5(TRPV4):c.1152+12G>T
NM_021625.5(TRPV4):c.1152+15dup
NM_021625.5(TRPV4):c.1311G>C (p.Leu437=) rs148225182
NM_021625.5(TRPV4):c.1404C>T (p.Ala468=) rs138301077
NM_021625.5(TRPV4):c.1421A>G (p.Asn474Ser) rs150461804
NM_021625.5(TRPV4):c.1492-17C>T
NM_021625.5(TRPV4):c.1585-15C>A
NM_021625.5(TRPV4):c.1683C>T (p.Ile561=) rs780088701
NM_021625.5(TRPV4):c.1728C>T (p.Ala576=) rs149742074
NM_021625.5(TRPV4):c.1824+14G>A
NM_021625.5(TRPV4):c.1824+5G>A
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=) rs757493897
NM_021625.5(TRPV4):c.1884C>T (p.Tyr628=) rs369752162
NM_021625.5(TRPV4):c.1977G>A (p.Ser659=)
NM_021625.5(TRPV4):c.2092C>T (p.Leu698=) rs774321681
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=)
NM_021625.5(TRPV4):c.2336+10G>C
NM_021625.5(TRPV4):c.2349G>C (p.Val783=)
NM_021625.5(TRPV4):c.2610G>A (p.Pro870=)
NM_021625.5(TRPV4):c.396G>T (p.Pro132=)
NM_021625.5(TRPV4):c.615C>A (p.Gly205=)
NM_021625.5(TRPV4):c.732C>T (p.Ile244=) rs142647385
NM_021625.5(TRPV4):c.760G>C (p.Val254Leu) rs143548402
NM_021625.5(TRPV4):c.834G>A (p.Glu278=)
NM_021629.4(GNB4):c.195C>T (p.Tyr65=) rs768164095
NM_021629.4(GNB4):c.204-4C>G rs377746889
NM_021629.4(GNB4):c.27A>G (p.Gln9=) rs376598495
NM_021629.4(GNB4):c.594T>C (p.Thr198=) rs768745441
NM_021629.4(GNB4):c.668C>T (p.Thr223Met) rs144385061
NM_021629.4(GNB4):c.699+10T>C rs1433602623
NM_021629.4(GNB4):c.747T>G (p.Thr249=) rs774571998
NM_021629.4(GNB4):c.771A>G (p.Ala257=) rs878855069
NM_021629.4(GNB4):c.84A>C (p.Ala28=) rs770125763
NM_021629.4(GNB4):c.885T>C (p.Asn295=) rs550870195
NM_021629.4(GNB4):c.916+9A>G rs376068792
NM_021629.4(GNB4):c.96+9T>C rs1222924595
NM_022489.4(INF2):c.118C>A (p.Arg40=) rs761238349
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del) rs751555478
NM_022489.4(INF2):c.1305C>T (p.Ala435=) rs1396253816
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu) rs561201601
NM_022489.4(INF2):c.1605G>A (p.Glu535=) rs374316478
NM_022489.4(INF2):c.1736-6C>T rs371991103
NM_022489.4(INF2):c.1770C>T (p.Pro590=) rs549506051
NM_022489.4(INF2):c.1821C>A (p.Ser607=) rs751949801
NM_022489.4(INF2):c.1864C>G (p.Arg622Gly) rs539256832
NM_022489.4(INF2):c.18C>T (p.Gly6=) rs1032255653
NM_022489.4(INF2):c.1956C>T (p.Asn652=) rs767304781
NM_022489.4(INF2):c.1978C>T (p.Arg660Trp) rs138577569
NM_022489.4(INF2):c.2040C>T (p.Pro680=) rs373736329
NM_022489.4(INF2):c.2049C>T (p.His683=) rs760045317
NM_022489.4(INF2):c.2118C>T (p.Leu706=) rs1595173916
NM_022489.4(INF2):c.2145G>A (p.Gln715=) rs1228218526
NM_022489.4(INF2):c.2181G>A (p.Ala727=) rs370830904
NM_022489.4(INF2):c.2184C>T (p.Ala728=) rs564499884
NM_022489.4(INF2):c.2202G>A (p.Val734=) rs376146089
NM_022489.4(INF2):c.2240-9C>T rs759780715
NM_022489.4(INF2):c.2418+8G>A rs778305724
NM_022489.4(INF2):c.2419-8C>A rs372720253
NM_022489.4(INF2):c.246G>A (p.Ala82=) rs377173164
NM_022489.4(INF2):c.2498T>C (p.Leu833Pro) rs575569437
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys) rs201534539
NM_022489.4(INF2):c.2550C>T (p.Thr850=) rs771112980
NM_022489.4(INF2):c.2673G>A (p.Arg891=) rs938468023
NM_022489.4(INF2):c.2682C>T (p.Ala894=) rs770520588
NM_022489.4(INF2):c.2766C>T (p.Arg922=) rs201044782
NM_022489.4(INF2):c.2879-9G>A rs373139405
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg) rs551015347
NM_022489.4(INF2):c.3041-4C>T rs945997134
NM_022489.4(INF2):c.3102C>T (p.Pro1034=) rs375864368
NM_022489.4(INF2):c.3372C>T (p.Ala1124=) rs769591308
NM_022489.4(INF2):c.3474C>T (p.Ser1158=) rs1555375620
NM_022489.4(INF2):c.3501C>A (p.Gly1167=) rs776977547
NM_022489.4(INF2):c.3519C>T (p.Asp1173=) rs767075044
NM_022489.4(INF2):c.3537G>A (p.Thr1179=) rs758215424
NM_022489.4(INF2):c.354C>T (p.Ile118=) rs771038193
NM_022489.4(INF2):c.3591G>A (p.Ala1197=) rs765090867
NM_022489.4(INF2):c.3591G>T (p.Ala1197=) rs765090867
NM_022489.4(INF2):c.3638G>A (p.Arg1213Gln) rs199801767
NM_022489.4(INF2):c.363C>T (p.Asn121=) rs1174416960
NM_022489.4(INF2):c.3648G>T (p.Lys1216Asn) rs139196357
NM_022489.4(INF2):c.3654C>T (p.Thr1218=) rs557462297
NM_022489.4(INF2):c.366G>A (p.Gln122=) rs770186824
NM_022489.4(INF2):c.3744C>T (p.Ile1248=) rs765432583
NM_022489.4(INF2):c.37G>A (p.Ala13Thr) rs201383094
NM_022489.4(INF2):c.408C>T (p.Asn136=) rs767069639
NM_022489.4(INF2):c.519C>T (p.Ser173=) rs780247558
NM_022489.4(INF2):c.564C>T (p.Ser188=) rs746732992
NM_022489.4(INF2):c.570C>T (p.Asn190=) rs200662352
NM_022489.4(INF2):c.585C>T (p.Val195=) rs759408802
NM_022489.4(INF2):c.597C>T (p.Ser199=) rs372269719
NM_022489.4(INF2):c.639G>A (p.Ala213=) rs149858291
NM_022489.4(INF2):c.67T>A (p.Ser23Thr) rs746964937
NM_022489.4(INF2):c.744C>T (p.Phe248=) rs372799744
NM_022489.4(INF2):c.798C>G (p.Val266=) rs375005967
NM_022489.4(INF2):c.844-6G>A rs370399987
NM_022489.4(INF2):c.885G>A (p.Leu295=) rs370680236
NM_022489.4(INF2):c.942C>T (p.Ala314=) rs774989778
NM_022489.4(INF2):c.945G>A (p.Leu315=) rs1475991845
NM_022489.4(INF2):c.985+10C>T rs755849718
NM_024577.3(SH3TC2):c.*10875T>C rs184560843
NM_024577.3(SH3TC2):c.*11010A>G rs114735628
NM_024577.3(SH3TC2):c.*12108_*12110del rs35182601
NM_024577.3(SH3TC2):c.*12509T>C rs550901114
NM_024577.3(SH3TC2):c.*12637A>G rs536941130
NM_024577.3(SH3TC2):c.*12807G>A rs150317192
NM_024577.3(SH3TC2):c.*13230C>T rs138600983
NM_024577.3(SH3TC2):c.*13352G>A rs192178726
NM_024577.3(SH3TC2):c.*15489G>A rs115194965
NM_024577.3(SH3TC2):c.*16169G>A rs191600511
NM_024577.3(SH3TC2):c.*16378C>A rs144423228
NM_024577.3(SH3TC2):c.*16784C>T rs144720540
NM_024577.3(SH3TC2):c.*16900_*16901delCA rs71957589
NM_024577.3(SH3TC2):c.*16947C>T rs142551288
NM_024577.3(SH3TC2):c.*1750C>T rs146276637
NM_024577.3(SH3TC2):c.*18476T>C rs185251230
NM_024577.3(SH3TC2):c.*18606T>G rs182775401
NM_024577.3(SH3TC2):c.*19002A>G rs546701780
NM_024577.3(SH3TC2):c.*20142A>G rs189978591
NM_024577.3(SH3TC2):c.*20564A>T rs150905092
NM_024577.3(SH3TC2):c.*2081T>G rs543206033
NM_024577.3(SH3TC2):c.*21472A>G rs59731646
NM_024577.3(SH3TC2):c.*21482_*21485delAAAC rs146796490
NM_024577.3(SH3TC2):c.*21728T>C rs142485824
NM_024577.3(SH3TC2):c.*21786G>A rs6890482
NM_024577.3(SH3TC2):c.*22035G>A rs544954149
NM_024577.3(SH3TC2):c.*22212G>A rs149300520
NM_024577.3(SH3TC2):c.*22357T>C rs191754280
NM_024577.3(SH3TC2):c.*22553dup rs55932017
NM_024577.3(SH3TC2):c.*2341A>G rs531168193
NM_024577.3(SH3TC2):c.*2987C>T rs565331463
NM_024577.3(SH3TC2):c.*3061A>G rs138823547
NM_024577.3(SH3TC2):c.*3079G>A rs185297430
NM_024577.3(SH3TC2):c.*4279C>G rs74578025
NM_024577.3(SH3TC2):c.*4298C>T rs145849837
NM_024577.3(SH3TC2):c.*4446G>C rs186152591
NM_024577.3(SH3TC2):c.*4713G>A rs191742061
NM_024577.3(SH3TC2):c.*5020C>T rs371723580
NM_024577.3(SH3TC2):c.*6047T>A rs139490756
NM_024577.3(SH3TC2):c.*6301C>T rs188143654
NM_024577.3(SH3TC2):c.*6302T>A rs545169695
NM_024577.3(SH3TC2):c.*6350G>A rs184940808
NM_024577.3(SH3TC2):c.*6470T>C rs185164450
NM_024577.3(SH3TC2):c.*6820T>C rs60176324
NM_024577.3(SH3TC2):c.*6993T>C rs563203537
NM_024577.3(SH3TC2):c.*711A>C rs567593663
NM_024577.3(SH3TC2):c.*7939C>A rs144288040
NM_024577.3(SH3TC2):c.*8277G>A rs147532508
NM_024577.3(SH3TC2):c.*837G>A rs565462353
NM_024577.3(SH3TC2):c.*858_*861del rs5872107
NM_024577.3(SH3TC2):c.*8622del rs562125931
NM_024577.3(SH3TC2):c.*9361C>T rs573872364
NM_024577.3(SH3TC2):c.*9953C>T rs535186520
NM_024577.3(SH3TC2):c.1002-7G>A rs752528409
NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=) rs201779392
NM_024577.3(SH3TC2):c.1106G>A (p.Arg369His) rs551803988
NM_024577.3(SH3TC2):c.1177+10G>A rs139257109
NM_024577.3(SH3TC2):c.1177+9C>T rs375581325
NM_024577.3(SH3TC2):c.1178-8C>T rs202042438
NM_024577.3(SH3TC2):c.1178C>T (p.Ala393Val) rs148321018
NM_024577.3(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu) rs1554121791
NM_024577.3(SH3TC2):c.1195T>C (p.Phe399Leu) rs144764160
NM_024577.3(SH3TC2):c.1284G>A (p.Glu428=) rs367691494
NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) rs140904010
NM_024577.3(SH3TC2):c.1311C>T (p.Asp437=) rs749587305
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630
NM_024577.3(SH3TC2):c.1443C>T (p.Asp481=) rs146666910
NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=) rs200665714
NM_024577.3(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543
NM_024577.3(SH3TC2):c.1584C>T (p.Ala528=) rs762967613
NM_024577.3(SH3TC2):c.1767C>T (p.Ser589=) rs139898175
NM_024577.3(SH3TC2):c.1788T>A (p.Gly596=) rs141893132
NM_024577.3(SH3TC2):c.1794G>C (p.Leu598=) rs1554121710
NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His) rs186864272
NM_024577.3(SH3TC2):c.1839C>T (p.Leu613=) rs182893450
NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=) rs138411915
NM_024577.3(SH3TC2):c.1845G>A (p.Val615=) rs914238218
NM_024577.3(SH3TC2):c.1854C>T (p.Tyr618=) rs1483284949
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) rs143032801
NM_024577.3(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069
NM_024577.3(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075
NM_024577.3(SH3TC2):c.1947C>T (p.His649=) rs576049662
NM_024577.3(SH3TC2):c.2130G>A (p.Gln710=) rs763652479
NM_024577.3(SH3TC2):c.2199T>A (p.Ser733=) rs1220210982
NM_024577.3(SH3TC2):c.2254G>A (p.Asp752Asn) rs749008572
NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=) rs140829706
NM_024577.3(SH3TC2):c.2385C>T (p.Ser795=) rs145345364
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765
NM_024577.3(SH3TC2):c.2464C>T (p.Leu822=) rs752906301
NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753
NM_024577.3(SH3TC2):c.280-5C>T rs201937366
NM_024577.3(SH3TC2):c.285C>T (p.Leu95=) rs574669908
NM_024577.3(SH3TC2):c.2873-18T>C rs113514936
NM_024577.3(SH3TC2):c.2873-4T>A rs771093927
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) rs13436308
NM_024577.3(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710
NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602
NM_024577.3(SH3TC2):c.3168C>T (p.Leu1056=) rs200795092
NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=) rs375970910
NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291
NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433
NM_024577.3(SH3TC2):c.3479-8A>G rs147800229
NM_024577.3(SH3TC2):c.3644G>A (p.Arg1215His) rs145390629
NM_024577.3(SH3TC2):c.3676-9C>T rs748694034
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.3723G>A (p.Ala1241=) rs777895612
NM_024577.3(SH3TC2):c.3771G>A (p.Leu1257=) rs1472880531
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600
NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.529+8T>A rs780594631
NM_024577.3(SH3TC2):c.549C>T (p.Ala183=) rs147013935
NM_024577.3(SH3TC2):c.558C>T (p.Ser186=) rs141289653
NM_024577.3(SH3TC2):c.732-6T>C rs1554122676
NM_024577.3(SH3TC2):c.73G>T (p.Asp25Tyr) rs10066882
NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732
NM_024577.3(SH3TC2):c.794C>T (p.Ser265Phe) rs149873249
NM_024577.3(SH3TC2):c.831G>A (p.Thr277=) rs750308484
NM_024577.3(SH3TC2):c.894C>T (p.Ile298=) rs779808918
NM_024577.4(SH3TC2):c.*11427G>A
NM_024577.4(SH3TC2):c.*12189C>T
NM_024577.4(SH3TC2):c.*12550A>G
NM_024577.4(SH3TC2):c.*13204A>G
NM_024577.4(SH3TC2):c.*13645C>T
NM_024577.4(SH3TC2):c.*14188C>T
NM_024577.4(SH3TC2):c.*16395G>T
NM_024577.4(SH3TC2):c.*1765G>C
NM_024577.4(SH3TC2):c.*20099T>C
NM_024577.4(SH3TC2):c.*20512C>A
NM_024577.4(SH3TC2):c.*2269G>T
NM_024577.4(SH3TC2):c.*4052T>C
NM_024577.4(SH3TC2):c.*5536T>G
NM_024577.4(SH3TC2):c.*5947C>G
NM_024577.4(SH3TC2):c.*6600T>C
NM_024577.4(SH3TC2):c.*7810T>A
NM_024577.4(SH3TC2):c.*7918C>T
NM_024577.4(SH3TC2):c.*797A>G
NM_024577.4(SH3TC2):c.*8533A>G
NM_024577.4(SH3TC2):c.1002-8C>T rs748766254
NM_024577.4(SH3TC2):c.1136-12A>G
NM_024577.4(SH3TC2):c.1177+18T>A
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=)
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) rs372749343
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=)
NM_024577.4(SH3TC2):c.1995C>T (p.His665=) rs751912297
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=) rs117860293
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=)
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=)
NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val) rs567173388
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=)
NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser)
NM_024577.4(SH3TC2):c.280-4G>A
NM_024577.4(SH3TC2):c.2873-16C>T
NM_024577.4(SH3TC2):c.2873-17C>T
NM_024577.4(SH3TC2):c.2919G>A (p.Val973=) rs145528276
NM_024577.4(SH3TC2):c.3177A>G (p.Glu1059=) rs766282582
NM_024577.4(SH3TC2):c.3456C>T (p.Ala1152=) rs530810802
NM_024577.4(SH3TC2):c.3459C>G (p.Ala1153=) rs1030348232
NM_024577.4(SH3TC2):c.3479-20C>T
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) rs762263591
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=)
NM_024577.4(SH3TC2):c.3816G>T (p.Gly1272=) rs1038817068
NM_024577.4(SH3TC2):c.52+4A>G
NM_024577.4(SH3TC2):c.53-17del
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=) rs371302639
NM_024577.4(SH3TC2):c.660G>C (p.Val220=) rs202052720
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=)
NM_024577.4(SH3TC2):c.731+17C>A
NM_024577.4(SH3TC2):c.855T>C (p.Asp285=) rs773193703
NM_024577.4(SH3TC2):c.87G>A (p.Ser29=) rs148793803
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=)
NM_030962.3(SBF2):c.*1091G>A
NM_030962.3(SBF2):c.*112G>A rs144513995
NM_030962.3(SBF2):c.1071C>T (p.Ala357=) rs775272908
NM_030962.3(SBF2):c.1164C>T (p.His388=) rs959559753
NM_030962.3(SBF2):c.1296+7C>T rs774033750
NM_030962.3(SBF2):c.1297-13T>C
NM_030962.3(SBF2):c.1297-6T>C rs1554975593
NM_030962.3(SBF2):c.1368G>A (p.Arg456=)
NM_030962.3(SBF2):c.1395+8_1395+11del rs763174480
NM_030962.3(SBF2):c.141+9T>A rs760322801
NM_030962.3(SBF2):c.142-22dup
NM_030962.3(SBF2):c.1459C>A (p.Arg487=) rs120074139
NM_030962.3(SBF2):c.1491T>C (p.Asn497=) rs767806871
NM_030962.3(SBF2):c.1509A>G (p.Glu503=) rs143773975
NM_030962.3(SBF2):c.1601-20T>C
NM_030962.3(SBF2):c.1623G>A (p.Thr541=) rs184849947
NM_030962.3(SBF2):c.1711-8G>T rs1590619062
NM_030962.3(SBF2):c.1711-9T>C
NM_030962.3(SBF2):c.1725A>C (p.Ala575=) rs144514407
NM_030962.3(SBF2):c.1812C>T (p.Asp604=) rs765658939
NM_030962.3(SBF2):c.1854T>G (p.Thr618=) rs1224103000
NM_030962.3(SBF2):c.1893C>T (p.Ala631=) rs760154688
NM_030962.3(SBF2):c.1965G>A (p.Thr655=) rs143732754
NM_030962.3(SBF2):c.1971A>G (p.Val657=) rs368639697
NM_030962.3(SBF2):c.2070A>G (p.Glu690=) rs201247796
NM_030962.3(SBF2):c.2109T>C (p.Leu703=)
NM_030962.3(SBF2):c.2160A>G (p.Gln720=) rs1247703447
NM_030962.3(SBF2):c.2178C>A (p.Thr726=) rs1590234812
NM_030962.3(SBF2):c.2319G>A (p.Ala773=) rs201547070
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.2337C>T (p.Ser779=) rs140730386
NM_030962.3(SBF2):c.2536+16A>T
NM_030962.3(SBF2):c.258T>C (p.Tyr86=) rs778681306
NM_030962.3(SBF2):c.2598G>A (p.Pro866=) rs376372877
NM_030962.3(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.3(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.3(SBF2):c.2619T>C (p.Ile873=)
NM_030962.3(SBF2):c.2709A>C (p.Gly903=) rs140152705
NM_030962.3(SBF2):c.280-5T>C rs368118378
NM_030962.3(SBF2):c.2807-8A>G rs762580844
NM_030962.3(SBF2):c.291G>A (p.Lys97=) rs150056369
NM_030962.3(SBF2):c.3036C>T (p.Thr1012=) rs111967328
NM_030962.3(SBF2):c.3135A>G (p.Lys1045=) rs1554920965
NM_030962.3(SBF2):c.3257-10A>T rs1348371983
NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.3(SBF2):c.3450C>T (p.Cys1150=) rs377608130
NM_030962.3(SBF2):c.3456-22_3456-18del
NM_030962.3(SBF2):c.3474C>T (p.Val1158=) rs376295625
NM_030962.3(SBF2):c.354C>T (p.Pro118=) rs371771984
NM_030962.3(SBF2):c.3651C>T (p.Ala1217=) rs550913752
NM_030962.3(SBF2):c.3744C>G (p.Leu1248=) rs752703631
NM_030962.3(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) rs145351367
NM_030962.3(SBF2):c.3837T>G (p.Ser1279=) rs1554909254
NM_030962.3(SBF2):c.3843A>G (p.Thr1281=) rs147597665
NM_030962.3(SBF2):c.387T>C (p.Tyr129=) rs1590797444
NM_030962.3(SBF2):c.3888G>A (p.Ser1296=) rs375669985
NM_030962.3(SBF2):c.3969G>A (p.Ser1323=) rs77833016
NM_030962.3(SBF2):c.403-15T>G rs887143579
NM_030962.3(SBF2):c.4095C>T (p.Ile1365=) rs142904756
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577
NM_030962.3(SBF2):c.4101T>G (p.Thr1367=)
NM_030962.3(SBF2):c.4111G>C (p.Val1371Leu) rs149501654
NM_030962.3(SBF2):c.4128G>A (p.Ala1376=) rs191964053
NM_030962.3(SBF2):c.4263A>G (p.Thr1421=) rs368381654
NM_030962.3(SBF2):c.4290C>T (p.Pro1430=)
NM_030962.3(SBF2):c.4335G>A (p.Glu1445=) rs1370306059
NM_030962.3(SBF2):c.4509C>T (p.His1503=) rs138816399
NM_030962.3(SBF2):c.4512T>C (p.Tyr1504=) rs772156530
NM_030962.3(SBF2):c.4515G>A (p.Val1505=) rs144935862
NM_030962.3(SBF2):c.4533A>G (p.Thr1511=) rs79251068
NM_030962.3(SBF2):c.4539C>T (p.Leu1513=)
NM_030962.3(SBF2):c.4611A>G (p.Lys1537=) rs930093275
NM_030962.3(SBF2):c.4635T>A (p.Ile1545=)
NM_030962.3(SBF2):c.4659C>T (p.Pro1553=) rs368478401
NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) rs563878786
NM_030962.3(SBF2):c.4701T>G (p.Ala1567=) rs750656969
NM_030962.3(SBF2):c.4758G>A (p.Glu1586=)
NM_030962.3(SBF2):c.4799C>T (p.Thr1600Ile) rs183468503
NM_030962.3(SBF2):c.4809C>T (p.His1603=) rs199670153
NM_030962.3(SBF2):c.4839A>G (p.Gly1613=) rs759504729
NM_030962.3(SBF2):c.4872G>T (p.Val1624=) rs539369489
NM_030962.3(SBF2):c.48G>A (p.Glu16=) rs889453292
NM_030962.3(SBF2):c.4947G>A (p.Leu1649=) rs149659495
NM_030962.3(SBF2):c.5004C>G (p.Thr1668=) rs150598413
NM_030962.3(SBF2):c.5007G>A (p.Val1669=) rs918725972
NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del) rs572571832
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) rs200784979
NM_030962.3(SBF2):c.5038-9C>G
NM_030962.3(SBF2):c.5043A>G (p.Gln1681=)
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.5073G>T (p.Val1691=) rs373722394
NM_030962.3(SBF2):c.513+18A>T rs201201683
NM_030962.3(SBF2):c.5231+14C>T rs371184526
NM_030962.3(SBF2):c.5277T>G (p.Gly1759=)
NM_030962.3(SBF2):c.5451+8G>C
NM_030962.3(SBF2):c.5452-3T>C
NM_030962.3(SBF2):c.5469T>C (p.Arg1823=) rs373457270
NM_030962.3(SBF2):c.5472G>A (p.Val1824=) rs1353568885
NM_030962.3(SBF2):c.5493T>C (p.Asp1831=) rs779051883
NM_030962.3(SBF2):c.5526C>A (p.Ile1842=) rs376788960
NM_030962.3(SBF2):c.612G>A (p.Gln204=) rs1554990046
NM_030962.3(SBF2):c.620-9T>C rs199676895
NM_030962.3(SBF2):c.651A>G (p.Ala217=) rs200293270
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.753-16T>C rs7128234
NM_030962.3(SBF2):c.777G>A (p.Pro259=) rs142261202
NM_030962.3(SBF2):c.78A>G (p.Lys26=)
NM_030962.3(SBF2):c.861+9T>A
NM_030962.3(SBF2):c.936A>G (p.Pro312=) rs765770300
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_030962.3(SBF2):c.948A>C (p.Leu316=)
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_030973.3(MED25):c.1062C>T (p.Ser354=) rs140345077
NM_030973.3(MED25):c.1227A>G (p.Gln409=) rs769851706
NM_030973.3(MED25):c.1374+9C>T rs574703435
NM_030973.3(MED25):c.1377C>T (p.Thr459=) rs374928221
NM_030973.3(MED25):c.1434G>A (p.Lys478=) rs181389801
NM_030973.3(MED25):c.151C>T (p.Pro51Ser) rs147869920
NM_030973.3(MED25):c.1572C>T (p.Gly524=) rs559482732
NM_030973.3(MED25):c.2046G>A (p.Pro682=) rs755620011
NM_030973.3(MED25):c.2056C>T (p.Leu686=) rs201969940
NM_030973.3(MED25):c.228C>T (p.Cys76=) rs770196362
NM_030973.3(MED25):c.354C>T (p.Leu118=) rs145574885
NM_030973.3(MED25):c.396C>T (p.Arg132=) rs142353864
NM_030973.3(MED25):c.597C>A (p.Ala199=) rs149788020
NM_030973.3(MED25):c.664C>T (p.Leu222=) rs147538736
NM_030973.3(MED25):c.689-3C>T rs199623358
NM_030973.3(MED25):c.689T>C (p.Val230Ala) rs199982073
NM_030973.3(MED25):c.819+14C>T rs188257265
NM_030973.3(MED25):c.93C>T (p.Tyr31=) rs61742955
NM_030973.4(MED25):c.1044C>T (p.Ser348=)
NM_030973.4(MED25):c.1102-11C>G
NM_030973.4(MED25):c.1317-16del
NM_030973.4(MED25):c.134+19A>G
NM_030973.4(MED25):c.134+20C>T
NM_030973.4(MED25):c.1369C>T (p.Leu457=)
NM_030973.4(MED25):c.1482+17G>A
NM_030973.4(MED25):c.1533C>T (p.Leu511=)
NM_030973.4(MED25):c.1675-18C>T
NM_030973.4(MED25):c.168C>T (p.Asp56=)
NM_030973.4(MED25):c.1747-19_1747-18del
NM_030973.4(MED25):c.1764G>A (p.Pro588=)
NM_030973.4(MED25):c.186G>A (p.Gly62=)
NM_030973.4(MED25):c.1966-5C>T
NM_030973.4(MED25):c.2037G>A (p.Leu679=)
NM_030973.4(MED25):c.2146+19G>T
NM_030973.4(MED25):c.2146+6G>A
NM_030973.4(MED25):c.305+17T>G
NM_030973.4(MED25):c.558G>A (p.Arg186=)
NM_030973.4(MED25):c.580C>T (p.Leu194=)
NM_030973.4(MED25):c.688+17G>A
NM_138361.5(LRSAM1):c.*590T>C rs139260397
NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_138361.5(LRSAM1):c.102C>T (p.Leu34=) rs762785076
NM_138361.5(LRSAM1):c.1044-20T>C
NM_138361.5(LRSAM1):c.1083T>C (p.Asn361=)
NM_138361.5(LRSAM1):c.1141C>T (p.Arg381Trp)
NM_138361.5(LRSAM1):c.1152C>T (p.Asp384=) rs760074620
NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877
NM_138361.5(LRSAM1):c.1160-7C>T rs377144291
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.1236C>T (p.Asn412=) rs186139632
NM_138361.5(LRSAM1):c.1329C>T (p.Ile443=) rs771415278
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr)
NM_138361.5(LRSAM1):c.1382A>T (p.Gln461Leu) rs145382004
NM_138361.5(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346
NM_138361.5(LRSAM1):c.1440T>G (p.Thr480=)
NM_138361.5(LRSAM1):c.1504-5C>G rs377190920
NM_138361.5(LRSAM1):c.1515G>A (p.Ser505=) rs140066362
NM_138361.5(LRSAM1):c.1518G>A (p.Glu506=)
NM_138361.5(LRSAM1):c.1573C>A (p.Arg525=) rs1442123730
NM_138361.5(LRSAM1):c.1581A>G (p.Glu527=)
NM_138361.5(LRSAM1):c.1599+9_1599+10del rs1588134360
NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114
NM_138361.5(LRSAM1):c.1602G>A (p.Thr534=) rs766032321
NM_138361.5(LRSAM1):c.1746G>A (p.Ser582=) rs199997686
NM_138361.5(LRSAM1):c.175-18G>T
NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911
NM_138361.5(LRSAM1):c.1789C>T (p.Leu597=) rs1588137639
NM_138361.5(LRSAM1):c.1830+20A>G
NM_138361.5(LRSAM1):c.1836C>T (p.Gly612=) rs577254396
NM_138361.5(LRSAM1):c.1912+10C>T rs1473393318
NM_138361.5(LRSAM1):c.192G>A (p.Thr64=) rs778625125
NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_138361.5(LRSAM1):c.1941C>T (p.Val647=) rs1000632610
NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) rs199887448
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.1980G>A (p.Arg660=) rs147805183
NM_138361.5(LRSAM1):c.2028C>G (p.Val676=) rs566890772
NM_138361.5(LRSAM1):c.2028C>T (p.Val676=) rs566890772
NM_138361.5(LRSAM1):c.2046+16T>C
NM_138361.5(LRSAM1):c.2062C>A (p.Leu688Ile) rs765956865
NM_138361.5(LRSAM1):c.2094G>A (p.Gln698=) rs752678501
NM_138361.5(LRSAM1):c.2111G>A (p.Arg704His) rs140808447
NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=) rs373990000
NM_138361.5(LRSAM1):c.252+10C>T rs765686374
NM_138361.5(LRSAM1):c.253-9C>T rs199925705
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) rs570248730
NM_138361.5(LRSAM1):c.330C>T (p.Asn110=)
NM_138361.5(LRSAM1):c.406+15G>T rs201808404
NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) rs368689811
NM_138361.5(LRSAM1):c.469A>G (p.Ile157Val) rs150292099
NM_138361.5(LRSAM1):c.480C>T (p.Asn160=) rs147205387
NM_138361.5(LRSAM1):c.498G>A (p.Pro166=) rs140809697
NM_138361.5(LRSAM1):c.513C>T (p.His171=) rs757426906
NM_138361.5(LRSAM1):c.51C>T (p.Arg17=)
NM_138361.5(LRSAM1):c.528+15G>C
NM_138361.5(LRSAM1):c.529-6C>T rs754162095
NM_138361.5(LRSAM1):c.546C>T (p.Ala182=) rs956107977
NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210
NM_138361.5(LRSAM1):c.570G>A (p.Arg190=) rs545814024
NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394
NM_138361.5(LRSAM1):c.619+11G>A rs370502826
NM_138361.5(LRSAM1):c.619+14G>A rs770398029
NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179
NM_138361.5(LRSAM1):c.6G>A (p.Pro2=) rs572330792
NM_138361.5(LRSAM1):c.706G>A (p.Asp236Asn)
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.783A>G (p.Glu261=) rs1344070586
NM_138361.5(LRSAM1):c.786G>A (p.Gln262=) rs748439646
NM_138361.5(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922
NM_138361.5(LRSAM1):c.822G>A (p.Leu274=) rs146079606
NM_138361.5(LRSAM1):c.846C>G (p.Thr282=) rs548270854
NM_138361.5(LRSAM1):c.849G>A (p.Gln283=) rs375636993
NM_138361.5(LRSAM1):c.894G>A (p.Thr298=) rs771491533
NM_138361.5(LRSAM1):c.917T>G (p.Leu306Arg) rs140151379
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835
NM_138361.5(LRSAM1):c.954C>T (p.Asn318=) rs200527839
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_138773.4(SLC25A46):c.1101G>A (p.Glu367=) rs768641525
NM_138773.4(SLC25A46):c.1134G>A (p.Gln378=) rs1164068029
NM_138773.4(SLC25A46):c.1248T>C (p.Asn416=) rs776771749
NM_138773.4(SLC25A46):c.219C>T (p.Tyr73=) rs755840361
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys) rs200566665
NM_138773.4(SLC25A46):c.278G>A (p.Ser93Asn) rs73230112
NM_138773.4(SLC25A46):c.385-4A>G rs377289513
NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn) rs202123515
NM_138773.4(SLC25A46):c.52G>T (p.Ala18Ser) rs191332512
NM_138773.4(SLC25A46):c.558G>A (p.Leu186=) rs200143217
NM_138773.4(SLC25A46):c.631G>A (p.Val211Met) rs114859074
NM_138773.4(SLC25A46):c.742A>C (p.Ile248Leu) rs149585060
NM_138773.4(SLC25A46):c.780G>A (p.Pro260=) rs766154121
NM_138773.4(SLC25A46):c.81C>T (p.Ala27=) rs1323118441
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup) rs374899270
NM_139241.3(FGD4):c.*167G>A
NM_139241.3(FGD4):c.*2103A>G rs55963204
NM_139241.3(FGD4):c.*2638A>G rs193167910
NM_139241.3(FGD4):c.*3367G>T rs188648275
NM_139241.3(FGD4):c.*3676A>G rs189489067
NM_139241.3(FGD4):c.*3920del rs144034303
NM_139241.3(FGD4):c.*4014C>A
NM_139241.3(FGD4):c.*4028A>G
NM_139241.3(FGD4):c.*4497G>A rs367545740
NM_139241.3(FGD4):c.*4585T>A
NM_139241.3(FGD4):c.*4831C>T rs145433607
NM_139241.3(FGD4):c.*5244G>A rs186014657
NM_139241.3(FGD4):c.-484C>A rs79370524
NM_139241.3(FGD4):c.1191+7G>A
NM_139241.3(FGD4):c.1194G>A (p.Glu398=) rs746263549
NM_139241.3(FGD4):c.1198C>T (p.Leu400=)
NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) rs138160928
NM_139241.3(FGD4):c.1413T>G (p.Val471=)
NM_139241.3(FGD4):c.1511+11C>T
NM_139241.3(FGD4):c.1512-7A>G rs200542541
NM_139241.3(FGD4):c.1542+7C>T rs1408854259
NM_139241.3(FGD4):c.1543-8T>C rs115061722
NM_139241.3(FGD4):c.1560C>T (p.Ile520=) rs61748364
NM_139241.3(FGD4):c.1635+10A>G rs374150424
NM_139241.3(FGD4):c.1659C>A (p.Ala553=) rs188104446
NM_139241.3(FGD4):c.1659C>G (p.Ala553=) rs188104446
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
NM_139241.3(FGD4):c.1782C>T (p.Ser594=) rs147136365
NM_139241.3(FGD4):c.1920A>G (p.Val640=) rs909875227
NM_139241.3(FGD4):c.1950T>G (p.Leu650=) rs1358873743
NM_139241.3(FGD4):c.1962G>A (p.Glu654=) rs201822384
NM_139241.3(FGD4):c.201C>T (p.Leu67=) rs141920723
NM_139241.3(FGD4):c.2106C>T (p.Ser702=) rs777555137
NM_139241.3(FGD4):c.2149G>A (p.Val717Met) rs61753359
NM_139241.3(FGD4):c.2205C>T (p.Ile735=) rs759982135
NM_139241.3(FGD4):c.2220A>G (p.Thr740=)
NM_139241.3(FGD4):c.236C>T (p.Thr79Ile) rs145115430
NM_139241.3(FGD4):c.255A>T (p.Ala85=) rs139357821
NM_139241.3(FGD4):c.374C>T (p.Thr125Met) rs200732890
NM_139241.3(FGD4):c.417T>A (p.Pro139=) rs1295234161
NM_139241.3(FGD4):c.479G>A (p.Gly160Asp) rs201826412
NM_139241.3(FGD4):c.635A>G (p.Asn212Ser) rs147969494
NM_139241.3(FGD4):c.732G>A (p.Ser244=) rs34555341
NM_139241.3(FGD4):c.783T>C (p.Asn261=) rs201678865
NM_139241.3(FGD4):c.837-13A>G
NM_139241.3(FGD4):c.837-16dup rs368420700
NM_139241.3(FGD4):c.852A>G (p.Arg284=) rs773609461
NM_139241.3(FGD4):c.885C>T (p.Phe295=) rs151083690
NM_139241.3(FGD4):c.93-20C>G rs1592293275
NM_170707.4(LMNA):c.-128T>C rs80356803
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242
NM_170707.4(LMNA):c.1092C>T (p.Asp364=)
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1157+15C>T
NM_170707.4(LMNA):c.1157+19G>A rs757715731
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433
NM_170707.4(LMNA):c.1261C>T (p.Leu421=) rs1194745110
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958
NM_170707.4(LMNA):c.1314G>A (p.Gly438=) rs774817302
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816
NM_170707.4(LMNA):c.1488+14C>T rs377700689
NM_170707.4(LMNA):c.1488+8G>A rs762836610
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1489-16C>G
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_170707.4(LMNA):c.1699-8C>G rs727503137
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813
NM_170707.4(LMNA):c.1770C>T (p.Thr590=) rs397517896
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448
NM_170707.4(LMNA):c.1968+18dup
NM_170707.4(LMNA):c.1969-4T>C rs751715969
NM_170707.4(LMNA):c.486G>A (p.Leu162=) rs727503135
NM_170707.4(LMNA):c.572T>G (p.Val191Gly)
NM_170707.4(LMNA):c.579T>C (p.Ala193=) rs749728556
NM_170707.4(LMNA):c.810+12C>T rs746914371
NM_170707.4(LMNA):c.936+12C>T rs199881992
NM_170707.4(LMNA):c.937-7C>G rs267607681
NM_181882.3(PRX):c.1077C>G (p.Arg359=)
NM_181882.3(PRX):c.1113A>G (p.Glu371=) rs137930942
NM_181882.3(PRX):c.1308G>A (p.Val436=) rs771496284
NM_181882.3(PRX):c.1491C>G (p.Pro497=) rs1224453835
NM_181882.3(PRX):c.1638A>G (p.Val546=)
NM_181882.3(PRX):c.1647G>C (p.Pro549=) rs202113722
NM_181882.3(PRX):c.1695A>G (p.Pro565=)
NM_181882.3(PRX):c.1695A>T (p.Pro565=)
NM_181882.3(PRX):c.1818G>A (p.Pro606=)
NM_181882.3(PRX):c.1857A>G (p.Pro619=)
NM_181882.3(PRX):c.1950C>T (p.Pro650=)
NM_181882.3(PRX):c.1980G>T (p.Pro660=) rs777413169
NM_181882.3(PRX):c.1986C>T (p.Val662=)
NM_181882.3(PRX):c.2044G>A (p.Glu682Lys) rs761277865
NM_181882.3(PRX):c.2047G>A (p.Val683Met) rs575075163
NM_181882.3(PRX):c.2100C>T (p.Ala700=) rs757528702
NM_181882.3(PRX):c.2106C>T (p.Pro702=) rs183461864
NM_181882.3(PRX):c.2295C>T (p.Asp765=)
NM_181882.3(PRX):c.2400G>A (p.Lys800=)
NM_181882.3(PRX):c.2424G>A (p.Lys808=)
NM_181882.3(PRX):c.2425C>T (p.Leu809=) rs145272609
NM_181882.3(PRX):c.2649G>A (p.Glu883=)
NM_181882.3(PRX):c.2715C>A (p.Thr905=) rs188765166
NM_181882.3(PRX):c.2724G>T (p.Leu908=)
NM_181882.3(PRX):c.300G>A (p.Val100=)
NM_181882.3(PRX):c.3195C>T (p.Ser1065=)
NM_181882.3(PRX):c.3237T>C (p.Asp1079=) rs774823527
NM_181882.3(PRX):c.3294G>A (p.Glu1098=) rs1599651349
NM_181882.3(PRX):c.3423G>A (p.Ala1141=)
NM_181882.3(PRX):c.3519A>C (p.Thr1173=)
NM_181882.3(PRX):c.3531A>G (p.Ala1177=) rs1465687338
NM_181882.3(PRX):c.3588A>G (p.Gly1196=) rs372745419
NM_181882.3(PRX):c.3768G>T (p.Val1256=)
NM_181882.3(PRX):c.4059_4061GGA[8] (p.Glu1361dup) rs139624657
NM_181882.3(PRX):c.4146C>T (p.Gly1382=)
NM_181882.3(PRX):c.624C>T (p.Ala208=) rs777019611
NM_181882.3(PRX):c.717G>T (p.Pro239=) rs761293957
NM_181882.3(PRX):c.861C>T (p.Ala287=)
NM_181882.3(PRX):c.934C>T (p.Leu312=) rs369792380
Single allele

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