ClinVar Miner

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

Included ClinVar conditions (135):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1126
Download table as spreadsheet
HGVS dbSNP
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=)
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=)
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=)
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=)
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn)
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=)
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=)
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=)
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=)
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=)
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=)
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=)
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=)
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=)
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267
NM_000263.4(NAGLU):c.282C>T (p.Arg94=)
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.351G>T (p.Val117=)
NM_000263.4(NAGLU):c.383+7C>T
NM_000263.4(NAGLU):c.48C>T (p.Ala16=)
NM_000263.4(NAGLU):c.510C>T (p.Gly170=)
NM_000263.4(NAGLU):c.708C>T (p.Phe236=)
NM_000263.4(NAGLU):c.723G>A (p.Val241=)
NM_000263.4(NAGLU):c.764+10C>T
NM_000263.4(NAGLU):c.780C>T (p.Val260=)
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu)
NM_000263.4(NAGLU):c.873C>T (p.Ile291=)
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=)
NM_000263.4(NAGLU):c.9_14GGTGGC[3] (p.4_5VA[3]) rs1024697806
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.162-6del rs766449694
NM_001005360.2(DNM2):c.162-7C>T rs148318860
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.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=)
NM_001005361.3(DNM2):c.1196+625C>T
NM_001005361.3(DNM2):c.1196+628G>C
NM_001005361.3(DNM2):c.1196+652C>T
NM_001005361.3(DNM2):c.1423-8T>C
NM_001005361.3(DNM2):c.1558-9T>G
NM_001005361.3(DNM2):c.1608C>T (p.Gly536=)
NM_001005361.3(DNM2):c.161+12_161+29dup
NM_001005361.3(DNM2):c.1965C>T (p.Thr655=)
NM_001005361.3(DNM2):c.2312C>T (p.Pro771Leu)
NM_001005361.3(DNM2):c.2514C>T (p.Ile838=)
NM_001005361.3(DNM2):c.2607C>T (p.Leu869=)
NM_001005361.3(DNM2):c.315C>T (p.Thr105=)
NM_001005361.3(DNM2):c.453C>T (p.Asp151=)
NM_001005361.3(DNM2):c.514C>T (p.Leu172=)
NM_001005361.3(DNM2):c.642C>G (p.Thr214=)
NM_001005361.3(DNM2):c.807C>T (p.Ala269=)
NM_001005361.3(DNM2):c.900A>G (p.Leu300=)
NM_001005361.3(DNM2):c.936G>A (p.Glu312=)
NM_001136473.1(LITAF):c.*50C>T
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.179C>T (p.Ser60Leu) rs765644026
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)
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) rs139116481
NM_001136473.1(LITAF):c.351G>C (p.Leu117=)
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_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.751-10A>G rs372774822
NM_001303256.3(MORC2):c.1308C>T (p.Tyr436=) rs768240412
NM_001303256.3(MORC2):c.153T>C (p.Tyr51=)
NM_001303256.3(MORC2):c.1668G>A (p.Thr556=)
NM_001303256.3(MORC2):c.1754G>A (p.Arg585His)
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=)
NM_001303256.3(MORC2):c.2319G>A (p.Ser773=) rs377574758
NM_001303256.3(MORC2):c.2319G>C (p.Ser773=)
NM_001303256.3(MORC2):c.2381-7T>C rs754758325
NM_001303256.3(MORC2):c.2559A>G (p.Lys853=)
NM_001303256.3(MORC2):c.2667C>T (p.Ser889=) rs565441094
NM_001303256.3(MORC2):c.2709C>T (p.Thr903=)
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=)
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
NM_001303256.3(MORC2):c.3030+8C>T
NM_001303256.3(MORC2):c.3081C>A (p.Leu1027=) rs149110760
NM_001303256.3(MORC2):c.309G>A (p.Gly103=)
NM_001303256.3(MORC2):c.342T>C (p.Asp114=)
NM_001303256.3(MORC2):c.399G>A (p.Thr133=) rs141171446
NM_001303256.3(MORC2):c.405T>C (p.His135=)
NM_001303256.3(MORC2):c.684G>A (p.Thr228=)
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=)
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.1035G>A (p.Leu345=)
NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=)
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.10650G>A (p.Thr3550=) rs143068719
NM_001376.5(DYNC1H1):c.10878A>G (p.Ala3626=)
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=) rs368621706
NM_001376.5(DYNC1H1):c.11046G>A (p.Arg3682=) rs370397467
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.11461-9_11461-8insG rs762712158
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873
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=)
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=)
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519
NM_001376.5(DYNC1H1):c.12103-9T>C rs939623360
NM_001376.5(DYNC1H1):c.12117T>C (p.Thr4039=) rs368830742
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.12276-5T>C rs1555412076
NM_001376.5(DYNC1H1):c.12276-6G>A
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.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=)
NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=) rs143936619
NM_001376.5(DYNC1H1):c.12654G>A (p.Thr4218=)
NM_001376.5(DYNC1H1):c.12663G>A (p.Thr4221=) rs145849008
NM_001376.5(DYNC1H1):c.12663G>T (p.Thr4221=)
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
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=)
NM_001376.5(DYNC1H1):c.12939C>T (p.Pro4313=)
NM_001376.5(DYNC1H1):c.12954C>G (p.Pro4318=)
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
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.13113C>T (p.Asp4371=) rs372518648
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
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.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.13470G>A (p.Gln4490=)
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=) rs35546990
NM_001376.5(DYNC1H1):c.13684+9A>G
NM_001376.5(DYNC1H1):c.13749C>T (p.Thr4583=) rs746971715
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.13887G>A (p.Lys4629=) rs141961494
NM_001376.5(DYNC1H1):c.13920C>T (p.Val4640=)
NM_001376.5(DYNC1H1):c.1410A>G (p.Arg470=) rs1060504508
NM_001376.5(DYNC1H1):c.150C>G (p.Ala50=)
NM_001376.5(DYNC1H1):c.1695C>T (p.Thr565=)
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810
NM_001376.5(DYNC1H1):c.1797G>A (p.Gly599=)
NM_001376.5(DYNC1H1):c.1860C>T (p.His620=)
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=)
NM_001376.5(DYNC1H1):c.2040G>A (p.Gln680=) rs1555408347
NM_001376.5(DYNC1H1):c.2115G>A (p.Lys705=) rs1555408353
NM_001376.5(DYNC1H1):c.2133C>T (p.Leu711=)
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.5(DYNC1H1):c.2277C>T (p.Arg759=)
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.261C>T (p.Asp87=) rs75113705
NM_001376.5(DYNC1H1):c.2719-9_2719-7del rs566271356
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994
NM_001376.5(DYNC1H1):c.2778T>C (p.Leu926=)
NM_001376.5(DYNC1H1):c.318C>T (p.Asp106=)
NM_001376.5(DYNC1H1):c.3210C>T (p.Asn1070=)
NM_001376.5(DYNC1H1):c.3334-4T>C
NM_001376.5(DYNC1H1):c.345-4T>G rs1060504510
NM_001376.5(DYNC1H1):c.3480G>A (p.Thr1160=) rs776275624
NM_001376.5(DYNC1H1):c.355A>G (p.Ile119Val)
NM_001376.5(DYNC1H1):c.369C>T (p.Pro123=) rs372944247
NM_001376.5(DYNC1H1):c.3804+9C>T rs377635872
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.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.4341G>A (p.Lys1447=) rs780278262
NM_001376.5(DYNC1H1):c.4428C>T (p.Asp1476=) rs756763142
NM_001376.5(DYNC1H1):c.4429T>C (p.Leu1477=)
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=)
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=)
NM_001376.5(DYNC1H1):c.501G>A (p.Glu167=) rs1555407893
NM_001376.5(DYNC1H1):c.5146C>T (p.Leu1716=)
NM_001376.5(DYNC1H1):c.5166G>T (p.Thr1722=)
NM_001376.5(DYNC1H1):c.5294C>T (p.Ala1765Val) rs150687712
NM_001376.5(DYNC1H1):c.5443T>C (p.Leu1815=)
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=)
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.6228C>T (p.Cys2076=)
NM_001376.5(DYNC1H1):c.6264C>T (p.Phe2088=)
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.6399A>G (p.Glu2133=) rs769782375
NM_001376.5(DYNC1H1):c.6406-4G>C rs374602014
NM_001376.5(DYNC1H1):c.646G>A (p.Val216Ile)
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=) rs147905977
NM_001376.5(DYNC1H1):c.668G>A (p.Arg223His)
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=)
NM_001376.5(DYNC1H1):c.7071G>A (p.Ser2357=)
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226
NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=) rs587780330
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.7317C>T (p.His2439=) rs200197781
NM_001376.5(DYNC1H1):c.7404C>T (p.Asn2468=)
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr) rs766837403
NM_001376.5(DYNC1H1):c.7437C>T (p.Phe2479=)
NM_001376.5(DYNC1H1):c.7566G>A (p.Thr2522=) rs747067301
NM_001376.5(DYNC1H1):c.78C>T (p.Asp26=) rs760083766
NM_001376.5(DYNC1H1):c.8097A>G (p.Thr2699=) rs772002773
NM_001376.5(DYNC1H1):c.8178-8G>C rs758234041
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) rs202023896
NM_001376.5(DYNC1H1):c.8401A>C (p.Arg2801=) rs771269792
NM_001376.5(DYNC1H1):c.840C>T (p.Asn280=)
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=)
NM_001376.5(DYNC1H1):c.8637+9C>T rs202042156
NM_001376.5(DYNC1H1):c.8638-7T>C rs201446705
NM_001376.5(DYNC1H1):c.8754C>T (p.His2918=) rs758989267
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.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=)
NM_001376.5(DYNC1H1):c.939C>T (p.Thr313=)
NM_001376.5(DYNC1H1):c.9402G>A (p.Pro3134=) rs145095254
NM_001376.5(DYNC1H1):c.9495C>T (p.Gly3165=) rs763139389
NM_001376.5(DYNC1H1):c.951C>T (p.Asp317=)
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.9642+4C>A
NM_001376.5(DYNC1H1):c.9654G>A (p.Leu3218=)
NM_001376.5(DYNC1H1):c.9780C>T (p.Ile3260=) rs1486174617
NM_001376.5(DYNC1H1):c.9960G>A (p.Ala3320=)
NM_001540.5(HSPB1):c.129G>A (p.Ser43=)
NM_001540.5(HSPB1):c.138A>G (p.Leu46=)
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324
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=)
NM_001540.5(HSPB1):c.364+10C>A
NM_001540.5(HSPB1):c.365-5C>T rs368936457
NM_001540.5(HSPB1):c.365-5del
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.365-7C>G rs201897299
NM_001540.5(HSPB1):c.429-7C>T rs375972376
NM_001540.5(HSPB1):c.438C>T (p.Pro146=) rs7805625
NM_001540.5(HSPB1):c.504C>T (p.Pro168=)
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005
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.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.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.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.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.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.2618C>T (p.Pro873Leu) rs141903179
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.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.304G>T (p.Ala102Ser) rs35610053
NM_002180.2(IGHMBP2):c.362C>T (p.Ser121Phe) rs2228205
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.954T>C (p.Asn318=) rs1482496537
NM_002180.3(IGHMBP2):c.1185C>T (p.Cys395=)
NM_002180.3(IGHMBP2):c.1236-5C>T
NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=)
NM_002180.3(IGHMBP2):c.243C>T (p.Asn81=)
NM_002180.3(IGHMBP2):c.256+7G>A
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=)
NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=)
NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=)
NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=)
NM_002180.3(IGHMBP2):c.993G>A (p.Lys331=)
NM_003680.3(YARS1):c.1079C>A (p.Pro360Gln)
NM_003680.3(YARS1):c.1080A>G (p.Pro360=)
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)
NM_003680.3(YARS1):c.1291A>T (p.Met431Leu) rs149620809
NM_003680.3(YARS1):c.1486A>G (p.Lys496Glu)
NM_003680.3(YARS1):c.381-6C>T rs376982377
NM_003680.3(YARS1):c.471G>A (p.Glu157=)
NM_003680.3(YARS1):c.483G>C (p.Leu161=) rs780528629
NM_003680.3(YARS1):c.507G>A (p.Leu169=)
NM_003680.3(YARS1):c.510+10G>C rs201272488
NM_003680.3(YARS1):c.511-10C>T
NM_003680.3(YARS1):c.546A>G (p.Gln182=) rs751440666
NM_003680.3(YARS1):c.681A>G (p.Glu227=)
NM_004637.5(RAB7A):c.180+9A>G rs762831187
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_004637.6(RAB7A):c.180+7A>G
NM_004637.6(RAB7A):c.603G>A (p.Ser201=)
NM_004990.4(MARS1):c.1095C>T (p.Ile365=) rs1555167079
NM_004990.4(MARS1):c.110-10C>T rs113549256
NM_004990.4(MARS1):c.132C>T (p.Thr44=) rs1555165361
NM_004990.4(MARS1):c.1369-7A>C rs377050640
NM_004990.4(MARS1):c.1636-9T>C
NM_004990.4(MARS1):c.1754-4C>A rs377361080
NM_004990.4(MARS1):c.2163G>C (p.Val721=) rs762587995
NM_004990.4(MARS1):c.2204+10C>T rs376636502
NM_004990.4(MARS1):c.2256C>G (p.Leu752=) rs201540140
NM_004990.4(MARS1):c.2472G>A (p.Thr824=)
NM_004990.4(MARS1):c.2491G>A (p.Val831Ile)
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.415-5C>A rs747351446
NM_004990.4(MARS1):c.42G>T (p.Pro14=) rs144002827
NM_004990.4(MARS1):c.496C>T (p.Leu166=)
NM_004990.4(MARS1):c.630C>T (p.Pro210=)
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)
NM_004990.4(MARS1):c.747G>A (p.Pro249=) rs200490364
NM_004990.4(MARS1):c.831T>C (p.Asn277=) rs367995771
NM_004990.4(MARS1):c.915C>T (p.Thr305=) rs199641659
NM_005340.7(HINT1):c.111+6_111+7insC rs770851222
NM_006070.6(TFG):c.1048G>A (p.Ala350Thr)
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala) rs111356679
NM_006070.6(TFG):c.1116C>T (p.Thr372=)
NM_006070.6(TFG):c.1146G>A (p.Ala382=)
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
NM_006070.6(TFG):c.457T>G (p.Ser153Ala)
NM_006070.6(TFG):c.57G>A (p.Glu19=)
NM_006070.6(TFG):c.621C>T (p.Pro207=)
NM_006070.6(TFG):c.663C>T (p.Gly221=)
NM_006070.6(TFG):c.672A>C (p.Pro224=) rs141412018
NM_006070.6(TFG):c.741C>T (p.Tyr247=)
NM_006070.6(TFG):c.771G>A (p.Gln257=)
NM_006070.6(TFG):c.774G>A (p.Pro258=)
NM_006070.6(TFG):c.908C>T (p.Ala303Val)
NM_006070.6(TFG):c.988A>G (p.Thr330Ala) rs145835282
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.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.303C>T (p.Asp101=) rs765528167
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006096.3(NDRG1):c.389+8C>T rs375532877
NM_006096.3(NDRG1):c.393G>A (p.Leu131=) rs149767690
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.892-9C>G rs987790520
NM_006096.3(NDRG1):c.93T>C (p.Asp31=) rs773317729
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.1092G>A (p.Ser364=)
NM_006096.4(NDRG1):c.135C>T (p.His45=)
NM_006096.4(NDRG1):c.165C>T (p.Asn55=)
NM_006096.4(NDRG1):c.195C>T (p.Ile65=)
NM_006096.4(NDRG1):c.285C>T (p.Asp95=)
NM_006096.4(NDRG1):c.306C>A (p.Gly102=)
NM_006096.4(NDRG1):c.30C>T (p.Leu10=)
NM_006096.4(NDRG1):c.321C>T (p.Pro107=)
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val)
NM_006096.4(NDRG1):c.438A>C (p.Leu146=)
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)
NM_006096.4(NDRG1):c.453A>G (p.Leu151=)
NM_006096.4(NDRG1):c.528C>T (p.Ala176=)
NM_006096.4(NDRG1):c.594+10G>A
NM_006096.4(NDRG1):c.594+9C>T
NM_006096.4(NDRG1):c.698+9A>G
NM_006096.4(NDRG1):c.702G>A (p.Arg234=)
NM_006096.4(NDRG1):c.856-5C>T
NM_006096.4(NDRG1):c.975G>A (p.Arg325=)
NM_006096.4(NDRG1):c.987C>T (p.Ala329=)
NM_006096.4(NDRG1):c.999C>T (p.Ser333=)
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.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.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.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.984G>T (p.Ala328=) rs759524661
NM_006158.5(NEFL):c.30C>T (p.Tyr10=)
NM_006158.5(NEFL):c.360C>T (p.Ala120=)
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.432-10T>A rs368810689
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys) rs148514935
NM_014365.2(HSPB8):c.503C>T (p.Ala168Val) rs373049356
NM_014845.5(FIG4):c.102G>A (p.Thr34=) rs145711919
NM_014845.5(FIG4):c.1040-4T>C rs374343214
NM_014845.5(FIG4):c.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1305G>C (p.Val435=)
NM_014845.5(FIG4):c.1435-8C>T rs754607430
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.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.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.705G>T (p.Leu235=) rs1026195072
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.1272-10C>T
NM_014845.6(FIG4):c.1386A>G (p.Glu462=)
NM_014845.6(FIG4):c.1620C>T (p.Thr540=)
NM_014845.6(FIG4):c.2232C>T (p.Ser744=)
NM_014845.6(FIG4):c.2241G>A (p.Pro747=)
NM_014845.6(FIG4):c.2406T>C (p.Tyr802=)
NM_014845.6(FIG4):c.2568G>A (p.Ser856=)
NM_014845.6(FIG4):c.2574T>C (p.Asp858=)
NM_014845.6(FIG4):c.289+10C>A
NM_014845.6(FIG4):c.351G>A (p.Ala117=)
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser)
NM_014845.6(FIG4):c.42G>A (p.Lys14=)
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
NM_014845.6(FIG4):c.876+8G>A
NM_015271.5(TRIM2):c.1050C>T (p.Ala350=)
NM_015271.5(TRIM2):c.1074G>A (p.Thr358=)
NM_015271.5(TRIM2):c.1143C>T (p.Asp381=) rs116472166
NM_015271.5(TRIM2):c.1161C>T (p.Thr387=)
NM_015271.5(TRIM2):c.1179C>T (p.Thr393=)
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=)
NM_015271.5(TRIM2):c.1518A>G (p.Lys506=)
NM_015271.5(TRIM2):c.1615-7C>G rs201299149
NM_015271.5(TRIM2):c.1671G>T (p.Pro557=)
NM_015271.5(TRIM2):c.1698G>A (p.Val566=)
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=)
NM_015271.5(TRIM2):c.2085G>A (p.Gln695=)
NM_015271.5(TRIM2):c.2139C>T (p.Ala713=)
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=)
NM_015271.5(TRIM2):c.605+10C>A
NM_015271.5(TRIM2):c.605+9C>A
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=)
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.1303T>C (p.Leu435=) rs767737380
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1551C>T (p.Phe517=) rs775961979
NM_016156.5(MTMR2):c.1757G>A (p.Arg586Gln) rs61735576
NM_016156.5(MTMR2):c.184_186del (p.Arg62del) rs141498429
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.1281C>A (p.Leu427=)
NM_016156.6(MTMR2):c.1480-4G>C
NM_016156.6(MTMR2):c.1770+7G>C
NM_016156.6(MTMR2):c.1770+9_1770+20del
NM_016156.6(MTMR2):c.33C>T (p.Gly11=)
NM_016156.6(MTMR2):c.984T>C (p.Val328=)
NM_018972.4(GDAP1):c.1045T>C (p.Leu349=) rs368943246
NM_018972.4(GDAP1):c.120G>A (p.Val40=)
NM_018972.4(GDAP1):c.216C>T (p.Asn72=) rs760859999
NM_018972.4(GDAP1):c.21G>A (p.Glu7=)
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.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.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.840C>T (p.Tyr280=) rs374624466
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=)
NM_020631.5(PLEKHG5):c.1371C>T (p.Asp457=) rs776561735
NM_020631.5(PLEKHG5):c.1545C>T (p.Ile515=)
NM_020631.5(PLEKHG5):c.1575G>C (p.Val525=) rs1488054852
NM_020631.5(PLEKHG5):c.1614G>T (p.Leu538=)
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=)
NM_020631.5(PLEKHG5):c.2049+10G>A
NM_020631.5(PLEKHG5):c.2056C>T (p.Leu686=)
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)
NM_020631.5(PLEKHG5):c.2892C>G (p.Ala964=)
NM_020631.5(PLEKHG5):c.2916C>G (p.Pro972=)
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=)
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=)
NM_020631.5(PLEKHG5):c.768C>T (p.Ser256=)
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
NM_020631.5(PLEKHG5):c.985-6C>T
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.*1574G>A rs142064826
NM_020956.2(PRX):c.*1666G>A rs757009052
NM_020956.2(PRX):c.*1705A>G rs777104457
NM_020956.2(PRX):c.*1783G>A rs567690884
NM_020956.2(PRX):c.*1829C>T rs201337455
NM_020956.2(PRX):c.*1856G>A rs61733448
NM_020956.2(PRX):c.*2032C>T rs751816156
NM_020956.2(PRX):c.*2140C>T rs763132536
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.*2935C>T rs878855283
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.*3913G>A rs202119177
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.*4072C>T rs759245840
NM_020956.2(PRX):c.*4144G>A rs140109585
NM_020956.2(PRX):c.*4152C>T rs142762689
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.*650G>A rs142436391
NM_020956.2(PRX):c.*704C>T rs10425452
NM_020956.2(PRX):c.*745G>A rs371243093
NM_020956.2(PRX):c.*785C>T rs45521038
NM_020956.2(PRX):c.*802C>G rs144157275
NM_020956.2(PRX):c.*847C>A rs551628239
NM_020956.2(PRX):c.*924G>A rs77917609
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.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.1278G>A (p.Thr426=) rs139179261
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.1546A>G (p.Ile516Val) rs115976458
NM_021625.4(TRPV4):c.1566C>G (p.Val522=) rs765724064
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.1899C>T (p.Val633=) rs753027239
NM_021625.4(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636
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.2295C>G (p.Gly765=) rs753038628
NM_021625.4(TRPV4):c.2304G>A (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.2508G>A (p.Ser836=) rs201884175
NM_021625.4(TRPV4):c.2514G>A (p.Pro838=) rs576688961
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.501C>T (p.Asp167=) rs77680510
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.898A>G (p.Ile300Val) rs114612488
NM_021625.4(TRPV4):c.903C>G (p.Val301=) rs748103823
NM_021625.5(TRPV4):c.1311G>C (p.Leu437=)
NM_021625.5(TRPV4):c.1421A>G (p.Asn474Ser)
NM_021625.5(TRPV4):c.1683C>T (p.Ile561=)
NM_021625.5(TRPV4):c.1728C>T (p.Ala576=)
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=)
NM_021625.5(TRPV4):c.1884C>T (p.Tyr628=)
NM_021625.5(TRPV4):c.732C>T (p.Ile244=)
NM_021625.5(TRPV4):c.760G>C (p.Val254Leu)
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=)
NM_021629.4(GNB4):c.668C>T (p.Thr223Met)
NM_021629.4(GNB4):c.699+10T>C rs1433602623
NM_021629.4(GNB4):c.747T>G (p.Thr249=)
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=)
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=)
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del) rs751555478
NM_022489.4(INF2):c.1305C>T (p.Ala435=)
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu) rs561201601
NM_022489.4(INF2):c.1605G>A (p.Glu535=)
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=)
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=)
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
NM_022489.4(INF2):c.2419-8C>A rs372720253
NM_022489.4(INF2):c.246G>A (p.Ala82=)
NM_022489.4(INF2):c.2498T>C (p.Leu833Pro)
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=)
NM_022489.4(INF2):c.2682C>T (p.Ala894=)
NM_022489.4(INF2):c.2766C>T (p.Arg922=) rs201044782
NM_022489.4(INF2):c.2879-9G>A
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=)
NM_022489.4(INF2):c.3474C>T (p.Ser1158=) rs1555375620
NM_022489.4(INF2):c.3501C>A (p.Gly1167=)
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=)
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=)
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=)
NM_022489.4(INF2):c.570C>T (p.Asn190=)
NM_022489.4(INF2):c.585C>T (p.Val195=)
NM_022489.4(INF2):c.597C>T (p.Ser199=)
NM_022489.4(INF2):c.639G>A (p.Ala213=)
NM_022489.4(INF2):c.67T>A (p.Ser23Thr) rs746964937
NM_022489.4(INF2):c.744C>T (p.Phe248=)
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=)
NM_022489.4(INF2):c.945G>A (p.Leu315=)
NM_022489.4(INF2):c.985+10C>T rs755849718
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)
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.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.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.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.280-5C>T rs201937366
NM_024577.3(SH3TC2):c.285C>T (p.Leu95=) rs574669908
NM_024577.3(SH3TC2):c.2873-4T>A rs771093927
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.3315G>A (p.Val1105=) rs375970910
NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433
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.3813C>T (p.Ser1271=) rs140985600
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.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.1623G>A (p.Lys541=)
NM_024577.4(SH3TC2):c.1995C>T (p.His665=)
NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val)
NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser)
NM_024577.4(SH3TC2):c.2919G>A (p.Val973=)
NM_024577.4(SH3TC2):c.3177A>G (p.Glu1059=)
NM_024577.4(SH3TC2):c.3456C>T (p.Ala1152=)
NM_024577.4(SH3TC2):c.3459C>G (p.Ala1153=)
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=)
NM_024577.4(SH3TC2):c.3816G>T (p.Gly1272=)
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)
NM_024577.4(SH3TC2):c.855T>C (p.Asp285=)
NM_024577.4(SH3TC2):c.87G>A (p.Ser29=)
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.1297-6T>C rs1554975593
NM_030962.3(SBF2):c.1395+8_1395+11del rs763174480
NM_030962.3(SBF2):c.141+9T>A rs760322801
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.1623G>A (p.Thr541=)
NM_030962.3(SBF2):c.1711-8G>T
NM_030962.3(SBF2):c.1725A>C (p.Ala575=)
NM_030962.3(SBF2):c.1812C>T (p.Asp604=) rs765658939
NM_030962.3(SBF2):c.1854T>G (p.Thr618=)
NM_030962.3(SBF2):c.1893C>T (p.Ala631=) rs760154688
NM_030962.3(SBF2):c.1965G>A (p.Thr655=)
NM_030962.3(SBF2):c.1971A>G (p.Val657=) rs368639697
NM_030962.3(SBF2):c.2070A>G (p.Glu690=)
NM_030962.3(SBF2):c.2160A>G (p.Gln720=) rs1247703447
NM_030962.3(SBF2):c.2178C>A (p.Thr726=)
NM_030962.3(SBF2):c.2319G>A (p.Ala773=) rs201547070
NM_030962.3(SBF2):c.258T>C (p.Tyr86=)
NM_030962.3(SBF2):c.2598G>A (p.Pro866=) rs376372877
NM_030962.3(SBF2):c.2709A>C (p.Gly903=)
NM_030962.3(SBF2):c.280-5T>C rs368118378
NM_030962.3(SBF2):c.2807-8A>G
NM_030962.3(SBF2):c.291G>A (p.Lys97=) rs150056369
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.3450C>T (p.Cys1150=)
NM_030962.3(SBF2):c.3474C>T (p.Val1158=)
NM_030962.3(SBF2):c.354C>T (p.Pro118=)
NM_030962.3(SBF2):c.3651C>T (p.Ala1217=) rs550913752
NM_030962.3(SBF2):c.3744C>G (p.Leu1248=)
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=)
NM_030962.3(SBF2):c.3888G>A (p.Ser1296=) rs375669985
NM_030962.3(SBF2):c.3969G>A (p.Ser1323=)
NM_030962.3(SBF2):c.4095C>T (p.Ile1365=) rs142904756
NM_030962.3(SBF2):c.4263A>G (p.Thr1421=) rs368381654
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=)
NM_030962.3(SBF2):c.4515G>A (p.Val1505=) rs144935862
NM_030962.3(SBF2):c.4611A>G (p.Lys1537=)
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.4799C>T (p.Thr1600Ile) rs183468503
NM_030962.3(SBF2):c.4809C>T (p.His1603=) rs199670153
NM_030962.3(SBF2):c.4839A>G (p.Gly1613=)
NM_030962.3(SBF2):c.4872G>T (p.Val1624=) rs539369489
NM_030962.3(SBF2):c.48G>A (p.Glu16=)
NM_030962.3(SBF2):c.4947G>A (p.Leu1649=)
NM_030962.3(SBF2):c.5004C>G (p.Thr1668=)
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) rs200784979
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.5073G>T (p.Val1691=)
NM_030962.3(SBF2):c.5469T>C (p.Arg1823=)
NM_030962.3(SBF2):c.5472G>A (p.Val1824=)
NM_030962.3(SBF2):c.5493T>C (p.Asp1831=)
NM_030962.3(SBF2):c.5526C>A (p.Ile1842=)
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=)
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.936A>G (p.Pro312=)
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_138361.5(LRSAM1):c.102C>T (p.Leu34=)
NM_138361.5(LRSAM1):c.1152C>T (p.Asp384=)
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.1382A>T (p.Gln461Leu)
NM_138361.5(LRSAM1):c.1406G>A (p.Arg469Gln)
NM_138361.5(LRSAM1):c.1515G>A (p.Ser505=)
NM_138361.5(LRSAM1):c.1599+9_1599+10del
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.1772C>T (p.Ala591Val) rs139344911
NM_138361.5(LRSAM1):c.1789C>T (p.Leu597=)
NM_138361.5(LRSAM1):c.1836C>T (p.Gly612=) rs577254396
NM_138361.5(LRSAM1):c.1912+10C>T
NM_138361.5(LRSAM1):c.192G>A (p.Thr64=) rs778625125
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.1980G>A (p.Arg660=) rs147805183
NM_138361.5(LRSAM1):c.2028C>G (p.Val676=)
NM_138361.5(LRSAM1):c.2028C>T (p.Val676=) rs566890772
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
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.469A>G (p.Ile157Val) rs150292099
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.529-6C>T rs754162095
NM_138361.5(LRSAM1):c.546C>T (p.Ala182=)
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.685G>A (p.Glu229Lys) rs563259179
NM_138361.5(LRSAM1):c.6G>A (p.Pro2=)
NM_138361.5(LRSAM1):c.783A>G (p.Glu261=) rs1344070586
NM_138361.5(LRSAM1):c.786G>A (p.Gln262=)
NM_138361.5(LRSAM1):c.814C>T (p.Arg272Trp)
NM_138361.5(LRSAM1):c.822G>A (p.Leu274=)
NM_138361.5(LRSAM1):c.849G>A (p.Gln283=)
NM_138361.5(LRSAM1):c.894G>A (p.Thr298=) rs771491533
NM_138361.5(LRSAM1):c.917T>G (p.Leu306Arg)
NM_138773.4(SLC25A46):c.1101G>A (p.Glu367=)
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=)
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys) rs200566665
NM_138773.4(SLC25A46):c.278G>A (p.Ser93Asn)
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=)
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.767A>G (p.Lys256Arg) rs141213807
NM_138773.4(SLC25A46):c.780G>A (p.Pro260=)
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.1194G>A (p.Glu398=) rs746263549
NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) rs138160928
NM_139241.3(FGD4):c.1512-7A>G rs200542541
NM_139241.3(FGD4):c.1542+7C>T
NM_139241.3(FGD4):c.1635+10A>G
NM_139241.3(FGD4):c.1659C>A (p.Ala553=)
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=)
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=)
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=)
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.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.783T>C (p.Asn261=) rs201678865
NM_181882.3(PRX):c.1308G>A (p.Val436=)
NM_181882.3(PRX):c.1491C>G (p.Pro497=)
NM_181882.3(PRX):c.1647G>C (p.Pro549=)
NM_181882.3(PRX):c.1980G>T (p.Pro660=)
NM_181882.3(PRX):c.2044G>A (p.Glu682Lys)
NM_181882.3(PRX):c.2047G>A (p.Val683Met)
NM_181882.3(PRX):c.2100C>T (p.Ala700=)
NM_181882.3(PRX):c.2106C>T (p.Pro702=)
NM_181882.3(PRX):c.2425C>T (p.Leu809=)
NM_181882.3(PRX):c.2715C>A (p.Thr905=)
NM_181882.3(PRX):c.3237T>C (p.Asp1079=)
NM_181882.3(PRX):c.3294G>A (p.Glu1098=)
NM_181882.3(PRX):c.3531A>G (p.Ala1177=)
NM_181882.3(PRX):c.3588A>G (p.Gly1196=)
NM_181882.3(PRX):c.4059_4061GGA[8] (p.Glu1361dup)
NM_181882.3(PRX):c.624C>T (p.Ala208=)
NM_181882.3(PRX):c.717G>T (p.Pro239=)
NM_181882.3(PRX):c.934C>T (p.Leu312=)
Single allele

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