ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Revvity Omics, Revvity

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1714
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro) rs558084375 0.00362
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys) rs200611311 0.00131
NM_000036.3(AMPD1):c.381+1G>C rs143303736 0.00125
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp) rs61758863 0.00124
NM_005876.5(SPEG):c.2572C>T (p.Arg858Cys) rs199582765 0.00124
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr) rs145871645 0.00121
NM_005876.5(SPEG):c.4400G>A (p.Arg1467Gln) rs181222936 0.00113
NM_032608.7(MYO18B):c.445A>G (p.Arg149Gly) rs116601609 0.00113
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg) rs201036334 0.00103
NM_000231.3(SGCG):c.539A>T (p.Glu180Val) rs114160429 0.00101
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp) rs142582318 0.00093
NM_025207.5(FLAD1):c.683G>A (p.Arg228His) rs144986636 0.00093
NM_182914.3(SYNE2):c.3767G>A (p.Arg1256His) rs183356628 0.00084
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067 0.00083
NM_002206.3(ITGA7):c.2651A>T (p.Glu884Val) rs149963176 0.00081
NM_004320.6(ATP2A1):c.1370C>T (p.Thr457Met) rs138880727 0.00081
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser) rs138791086 0.00081
NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys) rs200367429 0.00080
NM_152328.5(ADSS1):c.372G>C (p.Trp124Cys) rs141465951 0.00078
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala) rs146977539 0.00076
NM_152490.5(B3GALNT2):c.1178G>A (p.Arg393Gln) rs140708018 0.00074
NM_182914.3(SYNE2):c.17033C>T (p.Thr5678Met) rs147365925 0.00073
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=) rs148105529 0.00072
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu) rs150645738 0.00070
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp) rs142169651 0.00070
NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn) rs150721350 0.00069
NM_031372.4(HNRNPDL):c.113T>C (p.Leu38Pro) rs373042980 0.00068
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His) rs200437377 0.00064
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_002206.3(ITGA7):c.340A>G (p.Met114Val) rs146565340 0.00063
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp) rs55916864 0.00063
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His) rs143341678 0.00063
NM_031372.4(HNRNPDL):c.110A>C (p.Gln37Pro) rs911762606 0.00062
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu) rs139690983 0.00054
NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile) rs115092288 0.00053
NM_017534.6(MYH2):c.2823G>T (p.Glu941Asp) rs138206136 0.00053
NM_004320.6(ATP2A1):c.1427G>A (p.Arg476His) rs150068594 0.00052
NM_017534.6(MYH2):c.5472+3G>T rs200691436 0.00052
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=) rs140527143 0.00052
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942 0.00052
NM_031372.4(HNRNPDL):c.274T>C (p.Ser92Pro) rs199543859 0.00051
NM_182914.3(SYNE2):c.3773A>G (p.Tyr1258Cys) rs370541277 0.00051
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln) rs182683822 0.00051
NM_000231.3(SGCG):c.*53C>A rs188804783 0.00050
NM_004320.6(ATP2A1):c.1208G>A (p.Arg403Gln) rs149009015 0.00049
NM_017534.6(MYH2):c.5003G>A (p.Arg1668Gln) rs143022667 0.00048
NM_182914.3(SYNE2):c.521A>G (p.Lys174Arg) rs139238702 0.00048
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_004320.6(ATP2A1):c.2458C>A (p.Pro820Thr) rs149282970 0.00046
NM_002206.3(ITGA7):c.284C>T (p.Pro95Leu) rs143749139 0.00044
NM_017534.6(MYH2):c.1898-3C>T rs370752980 0.00044
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln) rs199561218 0.00043
NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu) rs138705920 0.00042
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser) rs201176149 0.00042
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_001036.6(RYR3):c.6835G>A (p.Val2279Met) rs41279210 0.00041
NM_017534.6(MYH2):c.332C>T (p.Ala111Val) rs140468333 0.00040
NM_017534.6(MYH2):c.4583G>A (p.Arg1528His) rs142934668 0.00040
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe) rs138880406 0.00039
NM_021942.6(TRAPPC11):c.2145A>C (p.Glu715Asp) rs139034513 0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_001161403.3(LIMS2):c.882C>A (p.Asn294Lys) rs149101001 0.00038
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val) rs199743242 0.00038
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser) rs200319405 0.00037
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) rs200128474 0.00036
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu) rs140277551 0.00036
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00036
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00034
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_002206.3(ITGA7):c.671G>C (p.Gly224Ala) rs537950420 0.00033
NM_002206.3(ITGA7):c.1765A>C (p.Ile589Leu) rs200065922 0.00032
NM_152490.5(B3GALNT2):c.575G>A (p.Arg192His) rs201345883 0.00032
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe) rs185213208 0.00032
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val) rs189676187 0.00032
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000231.3(SGCG):c.8G>A (p.Arg3His) rs35105771 0.00031
NM_001161403.3(LIMS2):c.752A>G (p.Gln251Arg) rs146422285 0.00031
NM_032608.7(MYO18B):c.619G>A (p.Glu207Lys) rs1196149636 0.00031
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_182914.3(SYNE2):c.11047T>A (p.Ser3683Thr) rs199977941 0.00030
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His) rs142206385 0.00030
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg) rs150190849 0.00029
NM_000232.5(SGCB):c.151C>T (p.Arg51Cys) rs144743676 0.00029
NM_001199563.2(POPDC1):c.910G>A (p.Asp304Asn) rs147469762 0.00029
NM_002206.3(ITGA7):c.1681G>A (p.Val561Met) rs150089409 0.00029
NM_020451.3(SELENON):c.716G>A (p.Arg239His) rs199709671 0.00029
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr) rs149128439 0.00029
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_020451.3(SELENON):c.4G>T (p.Gly2Cys) rs982364753 0.00028
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys) rs148404730 0.00027
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_005876.5(SPEG):c.4861C>T (p.Arg1621Cys) rs55646900 0.00027
NM_032608.7(MYO18B):c.2147G>A (p.Arg716Gln) rs201070289 0.00027
NM_032608.7(MYO18B):c.4766G>A (p.Cys1589Tyr) rs375717740 0.00027
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr) rs200836164 0.00027
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala) rs540292629 0.00026
NM_017534.6(MYH2):c.1082A>T (p.His361Leu) rs139478967 0.00026
NM_021942.6(TRAPPC11):c.1901A>G (p.Asn634Ser) rs148567547 0.00026
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=) rs201868142 0.00026
NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe) rs200717164 0.00025
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile) rs116214830 0.00025
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529 0.00025
NM_002206.3(ITGA7):c.799A>G (p.Ile267Val) rs201469044 0.00025
NM_004320.6(ATP2A1):c.2000G>A (p.Arg667Gln) rs141250244 0.00025
NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser) rs149626892 0.00025
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00024
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr) rs181892289 0.00024
NM_001161403.3(LIMS2):c.971C>T (p.Ser324Leu) rs377574169 0.00024
NM_002206.3(ITGA7):c.2087C>T (p.Ser696Leu) rs76938320 0.00024
NM_032608.7(MYO18B):c.95T>C (p.Val32Ala) rs200574321 0.00024
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys) rs144702281 0.00023
NM_198271.5(LMOD3):c.1667C>A (p.Pro556Gln) rs201205115 0.00023
NM_017534.6(MYH2):c.4442G>A (p.Arg1481His) rs199751037 0.00022
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys) rs376507352 0.00022
NM_182914.3(SYNE2):c.9241C>T (p.Arg3081Trp) rs150085946 0.00022
NM_001161403.3(LIMS2):c.605G>A (p.Arg202His) rs148420126 0.00021
NM_017534.6(MYH2):c.5355G>T (p.Leu1785=) rs113280351 0.00021
NM_021942.6(TRAPPC11):c.3400T>C (p.Ter1134Arg) rs142222368 0.00021
NM_032608.7(MYO18B):c.22G>A (p.Ala8Thr) rs139296373 0.00021
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) rs557276019 0.00021
NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu) rs140393851 0.00021
NM_182914.3(SYNE2):c.19823A>T (p.Asp6608Val) rs372546949 0.00021
NM_001036.6(RYR3):c.12029G>A (p.Arg4010His) rs202140253 0.00020
NM_002206.3(ITGA7):c.1460G>A (p.Ser487Asn) rs140619961 0.00020
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg) rs398124359 0.00020
NM_182914.3(SYNE2):c.12377G>C (p.Ser4126Thr) rs113360430 0.00020
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His) rs538344879 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_002206.3(ITGA7):c.1317C>T (p.Phe439=) rs200714716 0.00019
NM_002206.3(ITGA7):c.3287C>T (p.Thr1096Met) rs200485048 0.00019
NM_002206.3(ITGA7):c.892C>T (p.Arg298Cys) rs201594532 0.00019
NM_005876.5(SPEG):c.52C>T (p.Pro18Ser) rs544959269 0.00019
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr) rs139691540 0.00019
NM_021942.6(TRAPPC11):c.2419G>A (p.Val807Met) rs139113789 0.00019
NM_152328.5(ADSS1):c.911G>A (p.Arg304His) rs375602969 0.00019
NM_152393.4(KLHL40):c.1681G>A (p.Ala561Thr) rs142487510 0.00019
NM_152490.5(B3GALNT2):c.400G>C (p.Asp134His) rs370993648 0.00019
NM_182914.3(SYNE2):c.20509G>A (p.Glu6837Lys) rs146398606 0.00019
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser) rs372150492 0.00019
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe) rs201466326 0.00019
NM_001161403.3(LIMS2):c.619G>A (p.Gly207Ser) rs141505120 0.00018
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln) rs141882853 0.00018
NM_000023.4(SGCA):c.172G>C (p.Val58Leu) rs141953249 0.00017
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) rs141801816 0.00017
NM_014254.3(RXYLT1):c.237C>G (p.His79Gln) rs200620643 0.00017
NM_017534.6(MYH2):c.3728C>T (p.Thr1243Met) rs150829316 0.00017
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His) rs150629598 0.00017
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys) rs145252144 0.00016
NM_000231.3(SGCG):c.196-3C>T rs765273430 0.00016
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln) rs200191311 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_001199563.2(POPDC1):c.574A>G (p.Asn192Asp) rs145098126 0.00016
NM_005876.5(SPEG):c.206C>T (p.Thr69Met) rs768017689 0.00016
NM_032608.7(MYO18B):c.4390C>T (p.Arg1464Trp) rs372963298 0.00016
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr) rs200887814 0.00016
NM_182914.3(SYNE2):c.3267T>G (p.Phe1089Leu) rs201858632 0.00016
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met) rs373690979 0.00016
NM_005876.5(SPEG):c.8110C>T (p.Arg2704Trp) rs370009561 0.00015
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe) rs146426896 0.00015
NM_017534.6(MYH2):c.1334G>A (p.Arg445His) rs201040489 0.00015
NM_018834.6(MATR3):c.2234C>T (p.Ala745Val) rs199797401 0.00015
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser) rs201165929 0.00015
NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly) rs139187222 0.00015
NM_182914.3(SYNE2):c.353A>T (p.Asp118Val) rs199860789 0.00015
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613 0.00015
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00014
NM_000036.3(AMPD1):c.785G>A (p.Arg262Gln) rs764094155 0.00014
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu) rs143110015 0.00014
NM_017534.6(MYH2):c.1300G>A (p.Val434Ile) rs143204063 0.00014
NM_021942.6(TRAPPC11):c.3086C>T (p.Ser1029Leu) rs201494083 0.00014
NM_032608.7(MYO18B):c.7024G>A (p.Glu2342Lys) rs370531504 0.00014
NM_058246.4(DNAJB6):c.410C>T (p.Thr137Met) rs149027078 0.00014
NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser) rs373880647 0.00014
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650 0.00014
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp) rs200137051 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000036.3(AMPD1):c.637G>A (p.Gly213Ser) rs373262677 0.00013
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln) rs201439705 0.00013
NM_001161403.3(LIMS2):c.278A>G (p.Asn93Ser) rs373800371 0.00013
NM_001161403.3(LIMS2):c.445G>A (p.Glu149Lys) rs148943578 0.00013
NM_002206.3(ITGA7):c.517C>T (p.Arg173Trp) rs368130279 0.00013
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_012470.4(TNPO3):c.857G>A (p.Arg286His) rs140709222 0.00013
NM_017534.6(MYH2):c.1174A>G (p.Ser392Gly) rs139212712 0.00013
NM_018116.4(MSTO1):c.706G>C (p.Asp236His) rs753488873 0.00013
NM_182914.3(SYNE2):c.17038C>T (p.Arg5680Trp) rs143377752 0.00013
NM_002206.3(ITGA7):c.3388G>A (p.Gly1130Arg) rs770066237 0.00012
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_032608.7(MYO18B):c.1675G>A (p.Glu559Lys) rs117243697 0.00012
NM_058246.4(DNAJB6):c.702C>G (p.Asp234Glu) rs568383912 0.00012
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys) rs201427580 0.00012
NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu) rs375497206 0.00012
NM_000036.3(AMPD1):c.2146C>T (p.Arg716Trp) rs143596876 0.00011
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_000232.5(SGCB):c.188A>G (p.Asn63Ser) rs377071680 0.00011
NM_002206.3(ITGA7):c.1589C>T (p.Ala530Val) rs200267194 0.00011
NM_002206.3(ITGA7):c.2534C>T (p.Thr845Met) rs55654066 0.00011
NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp) rs117350233 0.00011
NM_004320.6(ATP2A1):c.1561G>A (p.Val521Ile) rs200092983 0.00011
NM_015602.4(TOR1AIP1):c.1140A>C (p.Gln380His) rs139364730 0.00011
NM_017534.6(MYH2):c.2565G>A (p.Met855Ile) rs184494954 0.00011
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=) rs751186949 0.00011
NM_020451.3(SELENON):c.1388-3C>T rs754894330 0.00011
NM_032608.7(MYO18B):c.5854A>G (p.Ile1952Val) rs202126120 0.00011
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys) rs374565677 0.00011
NM_152328.5(ADSS1):c.709T>C (p.Tyr237His) rs755766738 0.00011
NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser) rs140056720 0.00011
NM_182914.3(SYNE2):c.10561G>A (p.Val3521Met) rs202224612 0.00011
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146 0.00011
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met) rs145018323 0.00011
NM_182914.3(SYNE2):c.18001G>A (p.Asp6001Asn) rs769737846 0.00011
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile) rs773841153 0.00011
NM_182914.3(SYNE2):c.7301G>A (p.Arg2434Gln) rs202200597 0.00011
NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn) rs146924667 0.00010
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379 0.00010
NM_001161403.3(LIMS2):c.533G>A (p.Arg178His) rs144584729 0.00010
NM_001199563.2(BVES):c.836A>G (p.His279Arg) rs767206976 0.00010
NM_004320.6(ATP2A1):c.109G>A (p.Gly37Ser) rs200428113 0.00010
NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr) rs765114036 0.00010
NM_017534.6(MYH2):c.1566C>T (p.Ala522=) rs142383679 0.00010
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn) rs202198533 0.00010
NM_017534.6(MYH2):c.5264G>A (p.Arg1755His) rs144414607 0.00010
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn) rs145874555 0.00010
NM_182914.3(SYNE2):c.7720T>A (p.Leu2574Ile) rs759148677 0.00010
NM_000023.4(SGCA):c.1051C>T (p.Arg351Cys) rs143365858 0.00009
NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp) rs369963978 0.00009
NM_000117.3(EMD):c.470G>A (p.Arg157Gln) rs148515772 0.00009
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys) rs148041867 0.00009
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln) rs776289036 0.00009
NM_000232.5(SGCB):c.97A>G (p.Asn33Asp) rs753684563 0.00009
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) rs150304121 0.00009
NM_001161403.3(LIMS2):c.635C>T (p.Ala212Val) rs138275119 0.00009
NM_001231.5(CASQ1):c.574G>C (p.Glu192Gln) rs182841353 0.00009
NM_002206.3(ITGA7):c.1249A>G (p.Ser417Gly) rs150004156 0.00009
NM_002206.3(ITGA7):c.3385G>A (p.Asp1129Asn) rs572158420 0.00009
NM_004320.6(ATP2A1):c.1766C>T (p.Thr589Met) rs200285714 0.00009
NM_005198.5(CHKB):c.668G>A (p.Gly223Asp) rs369606974 0.00009
NM_012470.4(TNPO3):c.1417G>A (p.Val473Ile) rs150330408 0.00009
NM_015602.4(TOR1AIP1):c.1319G>A (p.Arg440His) rs145065164 0.00009
NM_017534.6(MYH2):c.2546C>T (p.Ala849Val) rs374630865 0.00009
NM_017534.6(MYH2):c.772A>G (p.Thr258Ala) rs776266174 0.00009
NM_021942.6(TRAPPC11):c.1277T>C (p.Val426Ala) rs201263451 0.00009
NM_021942.6(TRAPPC11):c.1766A>G (p.Gln589Arg) rs146053783 0.00009
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser) rs372072916 0.00009
NM_152490.5(B3GALNT2):c.1373G>A (p.Ser458Asn) rs202067569 0.00009
NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile) rs151133469 0.00009
NM_182914.3(SYNE2):c.1060C>T (p.Arg354Trp) rs374073818 0.00009
NM_182914.3(SYNE2):c.12656C>T (p.Ala4219Val) rs767658277 0.00009
NM_182914.3(SYNE2):c.14969A>G (p.Asn4990Ser) rs577518631 0.00009
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp) rs761998546 0.00009
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His) rs367549881 0.00009
NM_182914.3(SYNE2):c.6056T>G (p.Met2019Arg) rs200404150 0.00009
NC_000001.11:g.114695547A>G rs377496676 0.00008
NM_000036.3(AMPD1):c.958A>G (p.Lys320Glu) rs376193713 0.00008
NM_000231.3(SGCG):c.142G>A (p.Val48Ile) rs369936288 0.00008
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile) rs201329880 0.00008
NM_002206.3(ITGA7):c.1396G>A (p.Ala466Thr) rs61733964 0.00008
NM_002206.3(ITGA7):c.3200G>A (p.Arg1067Gln) rs752159189 0.00008
NM_015602.4(TOR1AIP1):c.373C>G (p.Arg125Gly) rs201023108 0.00008
NM_017534.6(MYH2):c.1249G>A (p.Gly417Ser) rs148270782 0.00008
NM_017534.6(MYH2):c.3572A>G (p.His1191Arg) rs747186072 0.00008
NM_021942.6(TRAPPC11):c.2756G>A (p.Ser919Asn) rs753388968 0.00008
NM_031372.4(HNRNPDL):c.314C>T (p.Thr105Ile) rs763175161 0.00008
NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr) rs375911119 0.00008
NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn) rs138443370 0.00008
NM_182914.3(SYNE2):c.11843T>C (p.Val3948Ala) rs372848864 0.00008
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys) rs751734028 0.00008
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp) rs773994020 0.00008
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg) rs376121197 0.00008
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn) rs376789465 0.00007
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln) rs764507324 0.00007
NM_000231.3(SGCG):c.792C>G (p.Ile264Met) rs377620885 0.00007
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_002206.3(ITGA7):c.1625G>A (p.Arg542His) rs17854598 0.00007
NM_004320.6(ATP2A1):c.188G>A (p.Arg63Gln) rs774708450 0.00007
NM_017534.6(MYH2):c.3683G>A (p.Ser1228Asn) rs147439455 0.00007
NM_020451.3(SELENON):c.253A>G (p.Met85Val) rs761605974 0.00007
NM_021942.6(TRAPPC11):c.3211G>A (p.Gly1071Ser) rs141588557 0.00007
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly) rs375322787 0.00007
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu) rs753599819 0.00007
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641 0.00007
NM_000023.4(SGCA):c.1063C>T (p.Arg355Trp) rs766855169 0.00006
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile) rs199804735 0.00006
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000231.3(SGCG):c.302C>T (p.Ser101Leu) rs886042370 0.00006
NM_000231.3(SGCG):c.385G>A (p.Gly129Ser) rs747046381 0.00006
NM_000232.5(SGCB):c.29A>G (p.Glu10Gly) rs1452778513 0.00006
NM_001161403.3(LIMS2):c.145C>A (p.Pro49Thr) rs202166665 0.00006
NM_001161403.3(LIMS2):c.256C>T (p.Arg86Cys) rs757640443 0.00006
NM_002206.3(ITGA7):c.404G>T (p.Gly135Val) rs745534478 0.00006
NM_004320.6(ATP2A1):c.1601G>A (p.Arg534Gln) rs149334947 0.00006
NM_004320.6(ATP2A1):c.2777C>G (p.Pro926Arg) rs528721981 0.00006
NM_004320.6(ATP2A1):c.2879G>A (p.Arg960Gln) rs771772555 0.00006
NM_005198.5(CHKB):c.980C>T (p.Ser327Phe) rs371355721 0.00006
NM_005876.5(SPEG):c.4883C>T (p.Ala1628Val) rs199971371 0.00006
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) rs78633961 0.00006
NM_012470.4(TNPO3):c.965G>A (p.Arg322Gln) rs144794750 0.00006
NM_017534.6(MYH2):c.3067G>C (p.Val1023Leu) rs201925793 0.00006
NM_017534.6(MYH2):c.3403C>T (p.Arg1135Trp) rs200134368 0.00006
NM_017534.6(MYH2):c.3701T>C (p.Ile1234Thr) rs143809867 0.00006
NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe) rs138265883 0.00006
NM_017534.6(MYH2):c.5378A>C (p.Glu1793Ala) rs912089271 0.00006
NM_020451.3(SELENON):c.1078G>A (p.Gly360Ser) rs761873230 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly) rs200078740 0.00006
NM_021942.6(TRAPPC11):c.1244G>A (p.Gly415Glu) rs150383310 0.00006
NM_021942.6(TRAPPC11):c.1745A>G (p.Gln582Arg) rs533474499 0.00006
NM_021942.6(TRAPPC11):c.2651C>T (p.Thr884Ile) rs373484248 0.00006
NM_031372.4(HNRNPDL):c.1097G>C (p.Gly366Ala) rs200123403 0.00006
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu) rs558530329 0.00006
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met) rs747660857 0.00006
NM_152328.5(ADSS1):c.683T>C (p.Ile228Thr) rs141096426 0.00006
NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys) rs773864097 0.00006
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln) rs752900825 0.00006
NM_182914.3(SYNE2):c.11876C>T (p.Thr3959Ile) rs149790389 0.00006
NM_182914.3(SYNE2):c.12407C>T (p.Ser4136Leu) rs148970735 0.00006
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile) rs376207235 0.00006
NM_182914.3(SYNE2):c.17591A>G (p.Asn5864Ser) rs566886977 0.00006
NM_182914.3(SYNE2):c.20140G>A (p.Asp6714Asn) rs751000273 0.00006
NM_182914.3(SYNE2):c.4906G>A (p.Asp1636Asn) rs1030213853 0.00006
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu) rs80046702 0.00006
NM_182914.3(SYNE2):c.6172A>G (p.Lys2058Glu) rs762452734 0.00006
NM_182914.3(SYNE2):c.7300C>T (p.Arg2434Trp) rs570233690 0.00006
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000036.3(AMPD1):c.1111C>A (p.Arg371Ser) rs143303551 0.00005
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_001161403.3(LIMS2):c.289C>T (p.Pro97Ser) rs368536679 0.00005
NM_001161403.3(LIMS2):c.301C>T (p.Arg101Cys) rs201636855 0.00005
NM_001161403.3(LIMS2):c.616G>A (p.Glu206Lys) rs368003558 0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_002206.3(ITGA7):c.2357+1G>A rs200402328 0.00005
NM_002206.3(ITGA7):c.259C>T (p.Arg87Cys) rs140570573 0.00005
NM_002206.3(ITGA7):c.3263G>A (p.Arg1088Gln) rs754655315 0.00005
NM_004320.6(ATP2A1):c.2441T>C (p.Leu814Pro) rs746484055 0.00005
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln) rs750195772 0.00005
NM_015602.4(TOR1AIP1):c.638A>G (p.Asn213Ser) rs200495464 0.00005
NM_017534.6(MYH2):c.1535C>T (p.Thr512Met) rs376478405 0.00005
NM_017534.6(MYH2):c.3425G>A (p.Arg1142His) rs781136210 0.00005
NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln) rs756811670 0.00005
NM_017534.6(MYH2):c.4049G>A (p.Arg1350Gln) rs145438977 0.00005
NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val) rs377385495 0.00005
NM_020451.3(SELENON):c.989G>A (p.Arg330Gln) rs758037272 0.00005
NM_021942.6(TRAPPC11):c.1220C>A (p.Ser407Tyr) rs375379302 0.00005
NM_152490.5(B3GALNT2):c.664A>G (p.Thr222Ala) rs375121424 0.00005
NM_182914.3(SYNE2):c.15667T>A (p.Ser5223Thr) rs150361559 0.00005
NM_182914.3(SYNE2):c.18265G>A (p.Val6089Ile) rs759251568 0.00005
NM_182914.3(SYNE2):c.20177G>A (p.Arg6726Gln) rs200847772 0.00005
NM_182914.3(SYNE2):c.20413G>A (p.Glu6805Lys) rs199923651 0.00005
NM_182914.3(SYNE2):c.5045T>C (p.Leu1682Pro) rs199668814 0.00005
NM_000023.4(SGCA):c.467G>A (p.Arg156His) rs558473298 0.00004
NM_000023.4(SGCA):c.582A>C (p.Glu194Asp) rs199791980 0.00004
NM_000036.3(AMPD1):c.1192A>G (p.Ile398Val) rs1263217341 0.00004
NM_000036.3(AMPD1):c.1974+1G>A rs145328844 0.00004
NM_000036.3(AMPD1):c.53G>A (p.Arg18His) rs140601541 0.00004
NM_000036.3(AMPD1):c.784C>T (p.Arg262Trp) rs768332999 0.00004
NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys) rs139003085 0.00004
NM_000231.3(SGCG):c.270G>T (p.Leu90Phe) rs368524463 0.00004
NM_000231.3(SGCG):c.670A>G (p.Met224Val) rs372188878 0.00004
NM_000232.5(SGCB):c.137C>T (p.Pro46Leu) rs148525453 0.00004
NM_000232.5(SGCB):c.1_2del (p.Met1fs) rs886042503 0.00004
NM_000232.5(SGCB):c.838G>A (p.Gly280Ser) rs879945095 0.00004
NM_001101362.3(KBTBD13):c.1184C>T (p.Thr395Met) rs758995387 0.00004
NM_001161403.3(LIMS2):c.20C>T (p.Ser7Leu) rs369093987 0.00004
NM_001161403.3(LIMS2):c.290C>T (p.Pro97Leu) rs768056213 0.00004
NM_001161403.3(LIMS2):c.424C>T (p.Arg142Trp) rs780800196 0.00004
NM_001161403.3(LIMS2):c.49C>T (p.Arg17Cys) rs760929162 0.00004
NM_002206.3(ITGA7):c.1577A>G (p.Tyr526Cys) rs201280060 0.00004
NM_002206.3(ITGA7):c.1918G>A (p.Asp640Asn) rs751879922 0.00004
NM_002206.3(ITGA7):c.227A>G (p.Gln76Arg) rs767427150 0.00004
NM_002206.3(ITGA7):c.2467G>A (p.Val823Met) rs146163713 0.00004
NM_002206.3(ITGA7):c.260G>A (p.Arg87His) rs775800333 0.00004
NM_002206.3(ITGA7):c.2794A>G (p.Met932Val) rs779191862 0.00004
NM_002206.3(ITGA7):c.2963A>G (p.Tyr988Cys) rs1191095890 0.00004
NM_004320.6(ATP2A1):c.1466G>A (p.Arg489Gln) rs868448815 0.00004
NM_004320.6(ATP2A1):c.1913G>A (p.Arg638Gln) rs763141204 0.00004
NM_004320.6(ATP2A1):c.328C>T (p.Arg110Trp) rs368388257 0.00004
NM_005262.3(GFER):c.581G>A (p.Arg194His) rs121908192 0.00004
NM_005876.5(SPEG):c.7876T>C (p.Ser2626Pro) rs200008141 0.00004
NM_005876.5(SPEG):c.9016C>T (p.Arg3006Trp) rs781096883 0.00004
NM_005876.5(SPEG):c.9078C>T (p.His3026=) rs541299207 0.00004
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) rs373489115 0.00004
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu) rs756669574 0.00004
NM_012470.4(TNPO3):c.1402C>T (p.Arg468Cys) rs781140128 0.00004
NM_017534.6(MYH2):c.1160C>T (p.Ala387Val) rs527337606 0.00004
NM_017534.6(MYH2):c.5305G>A (p.Ala1769Thr) rs550869991 0.00004
NM_018116.4(MSTO1):c.1021A>G (p.Thr341Ala) rs757761857 0.00004
NM_018834.6(MATR3):c.1778+3A>G rs568895329 0.00004
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu) rs374819399 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_021942.6(TRAPPC11):c.1463G>T (p.Trp488Leu) rs779673117 0.00004
NM_021942.6(TRAPPC11):c.1664T>A (p.Ile555Asn) rs752315503 0.00004
NM_021942.6(TRAPPC11):c.2084C>T (p.Thr695Met) rs759325090 0.00004
NM_021942.6(TRAPPC11):c.2579del (p.Leu860fs) rs1216637259 0.00004
NM_021942.6(TRAPPC11):c.3194G>A (p.Arg1065Gln) rs567387885 0.00004
NM_021942.6(TRAPPC11):c.660+3G>A rs377549138 0.00004
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428 0.00004
NM_031229.4(RBCK1):c.940C>T (p.Arg314Cys) rs144105841 0.00004
NM_031229.4(RBCK1):c.941G>A (p.Arg314His) rs759203606 0.00004
NM_032608.7(MYO18B):c.2982A>G (p.Glu994=) rs199523038 0.00004
NM_032608.7(MYO18B):c.4146G>C (p.Trp1382Cys) rs753489293 0.00004
NM_032608.7(MYO18B):c.4318G>A (p.Ala1440Thr) rs769150604 0.00004
NM_058246.4(DNAJB6):c.404G>A (p.Arg135Gln) rs772121051 0.00004
NM_145064.3(STAC3):c.1022C>T (p.Ala341Val) rs753014378 0.00004
NM_152490.5(B3GALNT2):c.31T>G (p.Cys11Gly) rs953296331 0.00004
NM_152490.5(B3GALNT2):c.500A>G (p.Asn167Ser) rs144123418 0.00004
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn) rs753340395 0.00004
NM_182914.3(SYNE2):c.10556A>G (p.Glu3519Gly) rs75146753 0.00004
NM_182914.3(SYNE2):c.11665G>A (p.Ala3889Thr) rs759802358 0.00004
NM_182914.3(SYNE2):c.12238A>G (p.Arg4080Gly) rs769301000 0.00004
NM_182914.3(SYNE2):c.14479C>T (p.Arg4827Cys) rs146052780 0.00004
NM_182914.3(SYNE2):c.15028A>G (p.Ser5010Gly) rs754937863 0.00004
NM_182914.3(SYNE2):c.16313A>G (p.Asp5438Gly) rs374348890 0.00004
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His) rs200137127 0.00004
NM_182914.3(SYNE2):c.17504A>G (p.Asp5835Gly) rs147097998 0.00004
NM_182914.3(SYNE2):c.17713G>A (p.Val5905Met) rs778679729 0.00004
NM_182914.3(SYNE2):c.1844T>C (p.Phe615Ser) rs369877790 0.00004
NM_182914.3(SYNE2):c.19726T>C (p.Leu6576=) rs772308280 0.00004
NM_182914.3(SYNE2):c.20045C>T (p.Ser6682Leu) rs201256334 0.00004
NM_182914.3(SYNE2):c.2296A>G (p.Met766Val) rs556342048 0.00004
NM_182914.3(SYNE2):c.2347C>T (p.Leu783Phe) rs766796829 0.00004
NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu) rs201327410 0.00004
NM_182914.3(SYNE2):c.9976A>C (p.Lys3326Gln) rs747991604 0.00004
NM_198271.5(LMOD3):c.332G>A (p.Arg111His) rs370401036 0.00004
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.307A>G (p.Ile103Val) rs370819630 0.00003
NM_000023.4(SGCA):c.34G>A (p.Val12Met) rs766209304 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr) rs759284746 0.00003
NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln) rs886045093 0.00003
NM_000117.3(EMD):c.671C>T (p.Pro224Leu) rs782559230 0.00003
NM_001161403.3(LIMS2):c.11+1305G>A rs991541495 0.00003
NM_001161403.3(LIMS2):c.433C>G (p.Leu145Val) rs746614706 0.00003
NM_001161403.3(LIMS2):c.628G>A (p.Val210Ile) rs575987494 0.00003
NM_001378030.1(CCDC78):c.70C>T (p.Arg24Ter) rs887921636 0.00003
NM_002206.3(ITGA7):c.1040G>A (p.Arg347His) rs775063840 0.00003
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter) rs141365537 0.00003
NM_002206.3(ITGA7):c.2399G>A (p.Arg800His) rs143929243 0.00003
NM_002206.3(ITGA7):c.3309C>G (p.Asn1103Lys) rs768823556 0.00003
NM_002206.3(ITGA7):c.485G>A (p.Arg162His) rs781445250 0.00003
NM_004320.6(ATP2A1):c.1333C>A (p.Leu445Ile) rs748412702 0.00003
NM_004320.6(ATP2A1):c.1910G>A (p.Arg637Gln) rs182084601 0.00003
NM_006790.3(MYOT):c.17G>A (p.Arg6His) rs387906882 0.00003
NM_006790.3(MYOT):c.182A>C (p.His61Pro) rs372276337 0.00003
NM_015602.4(TOR1AIP1):c.305G>A (p.Ser102Asn) rs375448136 0.00003
NM_017534.6(MYH2):c.2704G>A (p.Glu902Lys) rs781514305 0.00003
NM_017534.6(MYH2):c.4376T>C (p.Leu1459Pro) rs765135888 0.00003
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter) rs750232956 0.00003
NM_017534.6(MYH2):c.5405G>A (p.Arg1802His) rs777282924 0.00003
NM_017534.6(MYH2):c.731C>T (p.Ser244Phe) rs201044964 0.00003
NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys) rs757346695 0.00003
NM_018834.6(MATR3):c.2282A>G (p.Asn761Ser) rs758675030 0.00003
NM_020451.3(SELENON):c.1339G>A (p.Val447Met) rs746942226 0.00003
NM_020451.3(SELENON):c.1535C>T (p.Ala512Val) rs202167521 0.00003
NM_020451.3(SELENON):c.545G>A (p.Arg182His) rs200224030 0.00003
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys) rs368074297 0.00003
NM_021942.6(TRAPPC11):c.43C>T (p.Arg15Trp) rs532605756 0.00003
NM_021942.6(TRAPPC11):c.899A>T (p.Asp300Val) rs768253464 0.00003
NM_032608.7(MYO18B):c.6223C>T (p.Arg2075Trp) rs565221932 0.00003
NM_032608.7(MYO18B):c.7601C>T (p.Ala2534Val) rs532589500 0.00003
NM_058246.4(DNAJB6):c.304G>A (p.Glu102Lys) rs1286507533 0.00003
NM_058246.4(DNAJB6):c.857C>T (p.Pro286Leu) rs886044476 0.00003
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu) rs368616652 0.00003
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser) rs200124094 0.00003
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu) rs587783342 0.00003
NM_152328.5(ADSS1):c.880G>A (p.Val294Met) rs781702955 0.00003
NM_182914.3(SYNE2):c.11323T>A (p.Cys3775Ser) rs753899883 0.00003
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu) rs747348017 0.00003
NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln) rs554186246 0.00003
NM_182914.3(SYNE2):c.17177T>C (p.Val5726Ala) rs944538946 0.00003
NM_182914.3(SYNE2):c.19394C>T (p.Ala6465Val) rs762635611 0.00003
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys) rs35763782 0.00003
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys) rs138789938 0.00003
NM_182914.3(SYNE2):c.2558C>G (p.Ser853Cys) rs763133096 0.00003
NM_182914.3(SYNE2):c.5174A>G (p.Asn1725Ser) rs200554446 0.00003
NM_182914.3(SYNE2):c.6064T>C (p.Tyr2022His) rs1264331455 0.00003
NM_182914.3(SYNE2):c.8905C>G (p.Leu2969Val) rs773914389 0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr) rs375692868 0.00002
NM_000023.4(SGCA):c.197T>A (p.Leu66His) rs767928766 0.00002
NM_000023.4(SGCA):c.199C>G (p.Gln67Glu) rs753180048 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000023.4(SGCA):c.724G>A (p.Val242Ile) rs200166783 0.00002
NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys) rs777802711 0.00002
NM_000036.3(AMPD1):c.296T>C (p.Ile99Thr) rs765248906 0.00002
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166 0.00002
NM_000117.3(EMD):c.422C>T (p.Ser141Phe) rs1262954618 0.00002
NM_000117.3(EMD):c.610C>T (p.Arg204Cys) rs782299893 0.00002
NM_000231.3(SGCG):c.407A>G (p.Gln136Arg) rs569816696 0.00002
NM_000231.3(SGCG):c.535G>A (p.Val179Met) rs139072866 0.00002
NM_000231.3(SGCG):c.623G>T (p.Gly208Val) rs778119056 0.00002
NM_000232.5(SGCB):c.14C>A (p.Ala5Glu) rs886158091 0.00002
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_001161403.3(LIMS2):c.108C>A (p.Tyr36Ter) rs752899664 0.00002
NM_001161403.3(LIMS2):c.79C>T (p.Arg27Cys) rs375142763 0.00002
NM_001231.5(CASQ1):c.143G>A (p.Arg48His) rs368579149 0.00002
NM_001378030.1(CCDC78):c.574C>T (p.Arg192Trp) rs754019798 0.00002
NM_002206.3(ITGA7):c.1673C>T (p.Ser558Leu) rs548594784 0.00002
NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter) rs201217202 0.00002
NM_002206.3(ITGA7):c.1982C>T (p.Thr661Met) rs749679578 0.00002
NM_002206.3(ITGA7):c.1994C>T (p.Pro665Leu) rs544984385 0.00002
NM_002206.3(ITGA7):c.2452C>T (p.Leu818Phe) rs137872276 0.00002
NM_002206.3(ITGA7):c.2722A>G (p.Ser908Gly) rs771994045 0.00002
NM_002206.3(ITGA7):c.3254G>A (p.Arg1085Gln) rs757690460 0.00002
NM_002206.3(ITGA7):c.571C>T (p.His191Tyr) rs984817118 0.00002
NM_002206.3(ITGA7):c.5C>T (p.Ala2Val) rs867336411 0.00002
NM_002206.3(ITGA7):c.911G>A (p.Arg304His) rs768455364 0.00002
NM_002206.3(ITGA7):c.922G>A (p.Glu308Lys) rs746101495 0.00002
NM_004320.6(ATP2A1):c.1015G>A (p.Val339Ile) rs770299228 0.00002
NM_004320.6(ATP2A1):c.1285G>A (p.Glu429Lys) rs762220295 0.00002
NM_004320.6(ATP2A1):c.1418C>T (p.Ser473Leu) rs41292392 0.00002
NM_004320.6(ATP2A1):c.2212G>A (p.Asp738Asn) rs769732457 0.00002
NM_004320.6(ATP2A1):c.2455C>T (p.Arg819Cys) rs768177407 0.00002
NM_004320.6(ATP2A1):c.2653G>A (p.Gly885Ser) rs1312245541 0.00002
NM_004320.6(ATP2A1):c.2710C>G (p.Leu904Val) rs772242880 0.00002
NM_004320.6(ATP2A1):c.871G>A (p.Gly291Arg) rs761201498 0.00002
NM_004320.6(ATP2A1):c.971G>A (p.Arg324His) rs751166692 0.00002
NM_004643.4(PABPN1):c.169C>T (p.Pro57Ser) rs886042198 0.00002
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu) rs140135928 0.00002
NM_017534.6(MYH2):c.182C>T (p.Thr61Met) rs145979297 0.00002
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys) rs376357016 0.00002
NM_017534.6(MYH2):c.4205G>A (p.Arg1402Gln) rs781252325 0.00002
NM_017534.6(MYH2):c.5153G>A (p.Arg1718His) rs755776701 0.00002
NM_017534.6(MYH2):c.979G>A (p.Asp327Asn) rs200893594 0.00002
NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr) rs749235364 0.00002
NM_020451.3(SELENON):c.1312G>A (p.Asp438Asn) rs200146431 0.00002
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter) rs377215510 0.00002
NM_020451.3(SELENON):c.430G>A (p.Glu144Lys) rs761068133 0.00002
NM_020451.3(SELENON):c.500C>T (p.Pro167Leu) rs747408056 0.00002
NM_021942.6(TRAPPC11):c.2242A>G (p.Ile748Val) rs368432060 0.00002
NM_021942.6(TRAPPC11):c.2786C>G (p.Ser929Cys) rs1275717721 0.00002
NM_021942.6(TRAPPC11):c.3221A>C (p.Gln1074Pro) rs368699954 0.00002
NM_031372.4(HNRNPDL):c.47C>T (p.Pro16Leu) rs1165100198 0.00002
NM_032608.7(MYO18B):c.7429A>G (p.Thr2477Ala) rs1280344801 0.00002
NM_058246.4(DNAJB6):c.721G>A (p.Glu241Lys) rs886043824 0.00002
NM_058246.4(DNAJB6):c.791G>A (p.Arg264Gln) rs969715884 0.00002
NM_058246.4(DNAJB6):c.932A>G (p.Lys311Arg) rs775708476 0.00002
NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro) rs778022582 0.00002
NM_182914.3(SYNE2):c.10163C>T (p.Ser3388Leu) rs759908590 0.00002
NM_182914.3(SYNE2):c.11906G>A (p.Arg3969Gln) rs563332131 0.00002
NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu) rs139959852 0.00002
NM_182914.3(SYNE2):c.15058G>C (p.Glu5020Gln) rs747472621 0.00002
NM_182914.3(SYNE2):c.17191C>T (p.Arg5731Cys) rs376008959 0.00002
NM_182914.3(SYNE2):c.3368G>A (p.Arg1123Lys) rs748431472 0.00002
NM_182914.3(SYNE2):c.4394A>G (p.His1465Arg) rs537177665 0.00002
NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln) rs764036360 0.00002
NM_182914.3(SYNE2):c.892A>C (p.Lys298Gln) rs866911879 0.00002
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg) rs540254057 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000023.4(SGCA):c.1108C>T (p.Arg370Trp) rs368243053 0.00001
NM_000023.4(SGCA):c.1121G>A (p.Arg374His) rs150524482 0.00001
NM_000023.4(SGCA):c.131C>T (p.Thr44Met) rs770516658 0.00001
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) rs60407644 0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr) rs759692350 0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349 0.00001
NM_000023.4(SGCA):c.354G>A (p.Gln118=) rs772233387 0.00001
NM_000023.4(SGCA):c.37+3A>G rs1370709181 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn) rs771485989 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000023.4(SGCA):c.585-1G>A rs1342189589 0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00001
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn) rs760608643 0.00001
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser) rs886042858 0.00001
NM_000023.4(SGCA):c.957-11C>G rs1391089933 0.00001
NM_000036.3(AMPD1):c.1708C>T (p.Arg570Ter) rs377185948 0.00001
NM_000036.3(AMPD1):c.40G>A (p.Asp14Asn) rs866261066 0.00001
NM_000036.3(AMPD1):c.793A>G (p.Lys265Glu) rs886044350 0.00001
NM_000036.3(AMPD1):c.950G>A (p.Arg317His) rs142123340 0.00001
NM_000117.3(EMD):c.103G>A (p.Glu35Lys) rs782222974 0.00001
NM_000117.3(EMD):c.400G>A (p.Val134Met) rs201250825 0.00001
NM_000117.3(EMD):c.403C>T (p.His135Tyr) rs782110153 0.00001
NM_000231.3(SGCG):c.236G>A (p.Arg79His) rs375766013 0.00001
NM_000231.3(SGCG):c.34G>A (p.Gly12Ser) rs761027747 0.00001
NM_000231.3(SGCG):c.352T>C (p.Ser118Pro) rs766126721 0.00001
NM_000231.3(SGCG):c.392A>G (p.Lys131Arg) rs544414698 0.00001
NM_000231.3(SGCG):c.440G>A (p.Gly147Asp) rs767605031 0.00001
NM_000231.3(SGCG):c.579-2A>G rs754415994 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.833G>A (p.Gly278Asp) rs748255972 0.00001
NM_000231.3(SGCG):c.87dup (p.Gly30fs) rs762777463 0.00001
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.370A>G (p.Lys124Glu) rs760596229 0.00001
NM_000232.5(SGCB):c.429+5G>A rs794727477 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000232.5(SGCB):c.502A>G (p.Met168Val) rs754465904 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000232.5(SGCB):c.67C>T (p.Arg23Cys) rs529566743 0.00001
NM_001017980.4(VMA21):c.223G>A (p.Ala75Thr) rs1464563401 0.00001
NM_001161403.3(LIMS2):c.661C>T (p.His221Tyr) rs1490885244 0.00001
NM_001378030.1(CCDC78):c.923G>A (p.Arg308His) rs151049173 0.00001
NM_001843.4(CNTN1):c.2005G>A (p.Val669Met) rs777561409 0.00001
NM_001953.5(TYMP):c.647C>T (p.Ala216Val) rs1064792855 0.00001
NM_002206.3(ITGA7):c.1091A>T (p.His364Leu) rs772387657 0.00001
NM_002206.3(ITGA7):c.1267G>A (p.Ala423Thr) rs779666592 0.00001
NM_002206.3(ITGA7):c.1511A>G (p.Asp504Gly) rs750220462 0.00001
NM_002206.3(ITGA7):c.1610G>A (p.Arg537Gln) rs752569950 0.00001
NM_002206.3(ITGA7):c.1771G>A (p.Val591Met) rs774213412 0.00001
NM_002206.3(ITGA7):c.1969C>T (p.Arg657Trp) rs528020122 0.00001
NM_002206.3(ITGA7):c.214G>C (p.Val72Leu) rs766173576 0.00001
NM_002206.3(ITGA7):c.2278G>A (p.Val760Ile) rs773004449 0.00001
NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter) rs755438542 0.00001
NM_002206.3(ITGA7):c.2470G>T (p.Val824Leu) rs763739936 0.00001
NM_002206.3(ITGA7):c.2476G>A (p.Gly826Ser) rs761965919 0.00001
NM_002206.3(ITGA7):c.247C>T (p.Gln83Ter) rs1055839662 0.00001
NM_002206.3(ITGA7):c.277G>A (p.Ala93Thr) rs777338785 0.00001
NM_002206.3(ITGA7):c.2905C>T (p.Arg969Cys) rs17857368 0.00001
NM_002206.3(ITGA7):c.3064G>C (p.Val1022Leu) rs1292181810 0.00001
NM_002206.3(ITGA7):c.3236A>G (p.His1079Arg) rs749520789 0.00001
NM_002206.3(ITGA7):c.341T>C (p.Met114Thr) rs761095619 0.00001
NM_002206.3(ITGA7):c.428G>A (p.Arg143Gln) rs537937026 0.00001
NM_002206.3(ITGA7):c.446G>A (p.Arg149Gln) rs758978382 0.00001
NM_002206.3(ITGA7):c.7G>A (p.Gly3Arg) rs544939783 0.00001
NM_004320.6(ATP2A1):c.1184+1G>A rs551660089 0.00001
NM_004320.6(ATP2A1):c.1216C>T (p.Gln406Ter) rs760995377 0.00001
NM_004320.6(ATP2A1):c.1369A>G (p.Thr457Ala) rs1203169806 0.00001
NM_004320.6(ATP2A1):c.150G>A (p.Trp50Ter) rs756940046 0.00001
NM_004320.6(ATP2A1):c.1552C>T (p.Pro518Ser) rs1258517686 0.00001
NM_004320.6(ATP2A1):c.1600C>T (p.Arg534Trp) rs376651574 0.00001
NM_004320.6(ATP2A1):c.1606C>T (p.Pro536Ser) rs200872921 0.00001
NM_004320.6(ATP2A1):c.2025C>A (p.Cys675Ter) rs121918114 0.00001
NM_004320.6(ATP2A1):c.2230G>A (p.Val744Ile) rs866421756 0.00001
NM_004320.6(ATP2A1):c.245A>G (p.Glu82Gly) rs764640218 0.00001
NM_004320.6(ATP2A1):c.2524G>A (p.Gly842Ser) rs751510265 0.00001
NM_004320.6(ATP2A1):c.2545G>A (p.Val849Met) rs748956350 0.00001
NM_004320.6(ATP2A1):c.2560T>C (p.Trp854Arg) rs780556969 0.00001
NM_004320.6(ATP2A1):c.2630C>T (p.Thr877Ile) rs779823220 0.00001
NM_004320.6(ATP2A1):c.2758C>T (p.Gln920Ter) rs897301304 0.00001
NM_004320.6(ATP2A1):c.2980G>A (p.Gly994Arg) rs1964150293 0.00001
NM_004320.6(ATP2A1):c.706C>T (p.Arg236Ter) rs745337023 0.00001
NM_004320.6(ATP2A1):c.857G>A (p.Gly286Asp) rs771239706 0.00001
NM_005876.5(SPEG):c.1149C>T (p.Arg383=) rs1295142218 0.00001
NM_005876.5(SPEG):c.1612C>T (p.Arg538Trp) rs1381276826 0.00001
NM_005876.5(SPEG):c.2763G>T (p.Glu921Asp) rs956843160 0.00001
NM_005876.5(SPEG):c.7442C>T (p.Ser2481Leu) rs1343314943 0.00001
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn) rs201903235 0.00001
NM_006790.3(MYOT):c.1126C>T (p.Pro376Ser) rs777061001 0.00001
NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg) rs769872126 0.00001
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly) rs727504026 0.00001
NM_006790.3(MYOT):c.143C>T (p.Thr48Ile) rs770515990 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser) rs1755029530 0.00001
NM_006790.3(MYOT):c.372del (p.Ala125fs) rs781353247 0.00001
NM_006790.3(MYOT):c.392C>A (p.Ala131Glu) rs982468554 0.00001
NM_006790.3(MYOT):c.424A>G (p.Ile142Val) rs771238896 0.00001
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn) rs193920888 0.00001
NM_006790.3(MYOT):c.752G>A (p.Arg251His) rs1477747475 0.00001
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile) rs758194318 0.00001
NM_012470.4(TNPO3):c.1562A>G (p.Lys521Arg) rs755030982 0.00001
NM_012470.4(TNPO3):c.1585G>C (p.Val529Leu) rs750192462 0.00001
NM_012470.4(TNPO3):c.160C>T (p.Arg54Trp) rs758601463 0.00001
NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val) rs886043402 0.00001
NM_012470.4(TNPO3):c.1874T>C (p.Ile625Thr) rs200950202 0.00001
NM_012470.4(TNPO3):c.2185T>G (p.Cys729Gly) rs781724504 0.00001
NM_012470.4(TNPO3):c.2333A>G (p.Gln778Arg) rs1339666918 0.00001
NM_012470.4(TNPO3):c.2545A>G (p.Thr849Ala) rs566110160 0.00001
NM_012470.4(TNPO3):c.525C>G (p.Phe175Leu) rs1249604129 0.00001
NM_012470.4(TNPO3):c.713C>T (p.Ser238Leu) rs748952773 0.00001
NM_012470.4(TNPO3):c.856C>T (p.Arg286Cys) rs745576236 0.00001
NM_012470.4(TNPO3):c.964C>T (p.Arg322Ter) rs751304152 0.00001
NM_012470.4(TNPO3):c.975G>C (p.Glu325Asp) rs1415790123 0.00001
NM_014254.3(RXYLT1):c.1332A>C (p.Ter444Tyr) rs922693472 0.00001
NM_015602.4(TOR1AIP1):c.371C>T (p.Thr124Met) rs377375784 0.00001
NM_015602.4(TOR1AIP1):c.404C>T (p.Ser135Leu) rs760733600 0.00001
NM_015602.4(TOR1AIP1):c.455G>A (p.Arg152Gln) rs773422033 0.00001
NM_015602.4(TOR1AIP1):c.907A>G (p.Asn303Asp) rs770895707 0.00001
NM_017534.6(MYH2):c.1267G>A (p.Val423Met) rs1433670000 0.00001
NM_017534.6(MYH2):c.1306G>A (p.Glu436Lys) rs756281353 0.00001
NM_017534.6(MYH2):c.1492G>A (p.Val498Met) rs374726398 0.00001
NM_017534.6(MYH2):c.1546T>G (p.Phe516Val) rs894307740 0.00001
NM_017534.6(MYH2):c.1741G>A (p.Ala581Thr) rs757972369 0.00001
NM_017534.6(MYH2):c.1879G>T (p.Ala627Ser) rs778516827 0.00001
NM_017534.6(MYH2):c.1975-1G>C rs201082272 0.00001
NM_017534.6(MYH2):c.2045A>G (p.Asn682Ser) rs761148856 0.00001
NM_017534.6(MYH2):c.2390G>T (p.Arg797Met) rs771139007 0.00001
NM_017534.6(MYH2):c.2654C>T (p.Thr885Met) rs150566222 0.00001
NM_017534.6(MYH2):c.2800G>A (p.Asp934Asn) rs201945489 0.00001
NM_017534.6(MYH2):c.2806G>A (p.Glu936Lys) rs1373237213 0.00001
NM_017534.6(MYH2):c.3046C>G (p.Leu1016Val) rs771807032 0.00001
NM_017534.6(MYH2):c.3395G>A (p.Arg1132Gln) rs778993350 0.00001
NM_017534.6(MYH2):c.3518G>A (p.Arg1173Gln) rs886043621 0.00001
NM_017534.6(MYH2):c.3653G>A (p.Arg1218Gln) rs139755852 0.00001
NM_017534.6(MYH2):c.3745-3T>C rs1305490194 0.00001
NM_017534.6(MYH2):c.3950A>C (p.Gln1317Pro) rs1380534578 0.00001
NM_017534.6(MYH2):c.4117G>A (p.Glu1373Lys) rs374190003 0.00001
NM_017534.6(MYH2):c.4199C>T (p.Ala1400Val) rs770023922 0.00001
NM_017534.6(MYH2):c.4261G>A (p.Glu1421Lys) rs368304404 0.00001
NM_017534.6(MYH2):c.4537+1G>A rs567336764 0.00001
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys) rs529367667 0.00001
NM_017534.6(MYH2):c.5095G>C (p.Glu1699Gln) rs1321342402 0.00001
NM_017534.6(MYH2):c.52C>T (p.Arg18Ter) rs769712128 0.00001
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser) rs948428305 0.00001
NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys) rs764645698 0.00001
NM_020451.3(SELENON):c.1082A>G (p.Tyr361Cys) rs749968347 0.00001
NM_020451.3(SELENON):c.1498C>G (p.Gln500Glu) rs763724398 0.00001
NM_020451.3(SELENON):c.1765C>T (p.Gln589Ter) rs374398346 0.00001
NM_020451.3(SELENON):c.372G>A (p.Trp124Ter) rs934913626 0.00001
NM_020451.3(SELENON):c.446_447del (p.Pro149fs) rs1192828749 0.00001
NM_020451.3(SELENON):c.482G>A (p.Arg161Gln) rs765749301 0.00001
NM_020451.3(SELENON):c.784C>T (p.Arg262Trp) rs746994841 0.00001
NM_021942.6(TRAPPC11):c.1208G>A (p.Ser403Asn) rs761391260 0.00001
NM_021942.6(TRAPPC11):c.1396G>A (p.Ala466Thr) rs756747035 0.00001
NM_021942.6(TRAPPC11):c.1735A>G (p.Ile579Val) rs368529822 0.00001
NM_021942.6(TRAPPC11):c.2071C>G (p.Leu691Val) rs777107611 0.00001
NM_021942.6(TRAPPC11):c.212C>T (p.Ser71Leu) rs774887816 0.00001
NM_021942.6(TRAPPC11):c.2531G>A (p.Arg844His) rs781082721 0.00001
NM_021942.6(TRAPPC11):c.2708A>G (p.Glu903Gly) rs1398795151 0.00001
NM_021942.6(TRAPPC11):c.2761T>G (p.Ser921Ala) rs755600230 0.00001
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu) rs764158202 0.00001
NM_021942.6(TRAPPC11):c.3189+1G>A rs1170374164 0.00001
NM_021942.6(TRAPPC11):c.3253G>T (p.Ala1085Ser) rs1319124548 0.00001
NM_021942.6(TRAPPC11):c.44G>A (p.Arg15Gln) rs368097747 0.00001
NM_021942.6(TRAPPC11):c.660+5G>A rs770891745 0.00001
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs) rs730880330 0.00001
NM_031372.4(HNRNPDL):c.397G>A (p.Ala133Thr) rs1037537699 0.00001
NM_032608.7(MYO18B):c.169C>T (p.Gln57Ter) rs1443918598 0.00001
NM_032608.7(MYO18B):c.2488A>G (p.Ile830Val) rs544705080 0.00001
NM_032608.7(MYO18B):c.7039C>T (p.Gln2347Ter) rs572116317 0.00001
NM_058246.4(DNAJB6):c.133A>G (p.Lys45Glu) rs749917279 0.00001
NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile) rs387907150 0.00001
NM_058246.4(DNAJB6):c.577A>G (p.Thr193Ala) rs770053224 0.00001
NM_058246.4(DNAJB6):c.608T>C (p.Ile203Thr) rs781071853 0.00001
NM_058246.4(DNAJB6):c.676T>G (p.Ser226Ala) rs1801013122 0.00001
NM_058246.4(DNAJB6):c.709G>C (p.Ala237Pro) rs753856844 0.00001
NM_138638.5(CFL2):c.73A>G (p.Thr25Ala) rs1004680147 0.00001
NM_139343.3(BIN1):c.1114G>A (p.Val372Met) rs749198133 0.00001
NM_139343.3(BIN1):c.1461+1G>A rs764951306 0.00001
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val) rs774321875 0.00001
NM_139343.3(BIN1):c.784A>C (p.Asn262His) rs1331854784 0.00001
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu) rs754707833 0.00001
NM_145064.3(STAC3):c.517C>T (p.Arg173Cys) rs1404488985 0.00001
NM_145064.3(STAC3):c.521A>G (p.Asn174Ser) rs1038718298 0.00001
NM_152328.5(ADSS1):c.193-2del rs774425831 0.00001
NM_152328.5(ADSS1):c.193-4988T>A rs769086716 0.00001
NM_152328.5(ADSS1):c.794-2A>G rs111588752 0.00001
NM_152393.4(KLHL40):c.557T>A (p.Leu186His) rs777496833 0.00001
NM_152490.5(B3GALNT2):c.1208C>T (p.Pro403Leu) rs369378819 0.00001
NM_152490.5(B3GALNT2):c.1311+1G>C rs1379052702 0.00001
NM_152490.5(B3GALNT2):c.1324A>T (p.Ser442Cys) rs1041647688 0.00001
NM_152490.5(B3GALNT2):c.1368+1G>A rs1479230229 0.00001
NM_152490.5(B3GALNT2):c.205G>A (p.Val69Met) rs534508633 0.00001
NM_152490.5(B3GALNT2):c.434T>C (p.Val145Ala) rs1684704696 0.00001
NM_152490.5(B3GALNT2):c.43G>A (p.Ala15Thr) rs997345764 0.00001
NM_152490.5(B3GALNT2):c.463A>G (p.Ile155Val) rs753582080 0.00001
NM_152490.5(B3GALNT2):c.493G>A (p.Asp165Asn) rs377646173 0.00001
NM_152490.5(B3GALNT2):c.694G>A (p.Gly232Ser) rs775573521 0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072 0.00001
NM_152490.5(B3GALNT2):c.989G>A (p.Arg330His) rs771483345 0.00001
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) rs768892432 0.00001
NM_182914.3(SYNE2):c.10195C>T (p.Arg3399Cys) rs528064472 0.00001
NM_182914.3(SYNE2):c.1063G>T (p.Asp355Tyr) rs765413747 0.00001
NM_182914.3(SYNE2):c.11539G>A (p.Asp3847Asn) rs376684112 0.00001
NM_182914.3(SYNE2):c.11702C>T (p.Ser3901Leu) rs1311942649 0.00001
NM_182914.3(SYNE2):c.11956G>A (p.Glu3986Lys) rs779441612 0.00001
NM_182914.3(SYNE2):c.12769G>A (p.Val4257Met) rs765323829 0.00001
NM_182914.3(SYNE2):c.13030A>G (p.Thr4344Ala) rs776545846 0.00001
NM_182914.3(SYNE2):c.13534G>A (p.Ala4512Thr) rs758884582 0.00001
NM_182914.3(SYNE2):c.13695_13707+2dup rs758985012 0.00001
NM_182914.3(SYNE2):c.14063G>A (p.Arg4688Gln) rs188252400 0.00001
NM_182914.3(SYNE2):c.14393C>T (p.Ala4798Val) rs770006520 0.00001
NM_182914.3(SYNE2):c.15187A>C (p.Lys5063Gln) rs746864967 0.00001
NM_182914.3(SYNE2):c.15484-3T>C rs370197641 0.00001
NM_182914.3(SYNE2):c.15859G>A (p.Asp5287Asn) rs188953744 0.00001
NM_182914.3(SYNE2):c.16730G>A (p.Arg5577Gln) rs143231145 0.00001
NM_182914.3(SYNE2):c.18013C>A (p.His6005Asn) rs780648179 0.00001
NM_182914.3(SYNE2):c.18031G>A (p.Gly6011Arg) rs145257568 0.00001
NM_182914.3(SYNE2):c.18694C>T (p.Arg6232Trp) rs772056587 0.00001
NM_182914.3(SYNE2):c.18695G>A (p.Arg6232Gln) rs549549436 0.00001
NM_182914.3(SYNE2):c.19234G>A (p.Val6412Met) rs755527635 0.00001
NM_182914.3(SYNE2):c.20073G>C (p.Gln6691His) rs1555559928 0.00001
NM_182914.3(SYNE2):c.2300A>T (p.Glu767Val) rs138419017 0.00001
NM_182914.3(SYNE2):c.3806C>T (p.Ala1269Val) rs757090585 0.00001
NM_182914.3(SYNE2):c.4231T>C (p.Ser1411Pro) rs748414819 0.00001
NM_182914.3(SYNE2):c.7569A>T (p.Arg2523Ser) rs763858839 0.00001
NM_182914.3(SYNE2):c.8171A>T (p.Glu2724Val) rs759977701 0.00001
NM_182914.3(SYNE2):c.8348A>T (p.Glu2783Val) rs773304417 0.00001
NM_182914.3(SYNE2):c.8417A>G (p.Asn2806Ser) rs765407182 0.00001
NM_182914.3(SYNE2):c.9717G>T (p.Gln3239His) rs1428818552 0.00001
NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter) rs1274380766 0.00001
NM_000023.4(SGCA):c.13C>G (p.Leu5Val) rs2144488329
NM_000023.4(SGCA):c.157G>T (p.Ala53Ser)
NM_000023.4(SGCA):c.158-2A>G rs1057516300
NM_000023.4(SGCA):c.183dup (p.Tyr62fs) rs886044688
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter) rs766400853
NM_000023.4(SGCA):c.194A>C (p.His65Pro)
NM_000023.4(SGCA):c.212A>T (p.Asp71Val)
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys) rs398123098
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys) rs890921874
NM_000023.4(SGCA):c.28C>T (p.Leu10Phe)
NM_000023.4(SGCA):c.304G>T (p.Val102Phe)
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.319G>A (p.Ala107Thr)
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000023.4(SGCA):c.37+1G>C rs111386656
NM_000023.4(SGCA):c.37+6T>C rs751466815
NM_000023.4(SGCA):c.376G>A (p.Asp126Asn) rs1905070029
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.466C>A (p.Arg156Ser)
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys) rs574376340
NM_000023.4(SGCA):c.542G>A (p.Arg181His)
NM_000023.4(SGCA):c.558_559del (p.Leu187fs)
NM_000023.4(SGCA):c.584+5G>A
NM_000023.4(SGCA):c.635T>C (p.Met212Thr)
NM_000023.4(SGCA):c.662G>C (p.Arg221Pro) rs138254713
NM_000023.4(SGCA):c.722G>A (p.Arg241His)
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.748-10C>A rs886042777
NM_000023.4(SGCA):c.749T>G (p.Val250Gly)
NM_000023.4(SGCA):c.754_755del (p.Lys252fs) rs1057517377
NM_000023.4(SGCA):c.760G>T (p.Val254Leu)
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) rs137852623
NM_000023.4(SGCA):c.904del (p.Leu302fs) rs2144501172
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.985A>T (p.Ile329Phe)
NM_000036.3(AMPD1):c.1096C>T (p.Arg366Cys)
NM_000036.3(AMPD1):c.1163G>A (p.Arg388Gln)
NM_000036.3(AMPD1):c.124G>A (p.Asp42Asn)
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
NM_000036.3(AMPD1):c.1619C>G (p.Ser540Cys)
NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter)
NM_000036.3(AMPD1):c.1931T>A (p.Ile644Asn)
NM_000036.3(AMPD1):c.2063T>C (p.Leu688Ser)
NM_000036.3(AMPD1):c.2171G>A (p.Arg724His)
NM_000036.3(AMPD1):c.2183G>A (p.Arg728His)
NM_000036.3(AMPD1):c.236G>A (p.Arg79Gln) rs200543002
NM_000036.3(AMPD1):c.304T>C (p.Tyr102His)
NM_000036.3(AMPD1):c.329A>C (p.Gln110Pro)
NM_000036.3(AMPD1):c.35-2A>G
NM_000036.3(AMPD1):c.587G>A (p.Arg196Gln)
NM_000036.3(AMPD1):c.5del (p.Pro2fs) rs557878856
NM_000036.3(AMPD1):c.640G>T (p.Val214Leu)
NM_000036.3(AMPD1):c.659A>G (p.Asn220Ser)
NM_000036.3(AMPD1):c.773C>G (p.Thr258Ser)
NM_000036.3(AMPD1):c.788G>A (p.Arg263His)
NM_000036.3(AMPD1):c.810G>A (p.Lys270=)
NM_000036.3(AMPD1):c.942T>A (p.His314Gln)
NM_000036.3(AMPD1):c.988G>A (p.Val330Met)
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) rs782507902
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.3(EMD):c.321G>T (p.Glu107Asp)
NM_000117.3(EMD):c.450-2A>G rs398123158
NM_000117.3(EMD):c.455G>A (p.Arg152His)
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys) rs2067884177
NM_000117.3(EMD):c.524G>A (p.Ser175Asn)
NM_000117.3(EMD):c.553T>C (p.Ser185Pro)
NM_000117.3(EMD):c.571A>G (p.Met191Val) rs397515752
NM_000117.3(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.3(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000117.3(EMD):c.674del (p.Leu225fs)
NM_000117.3(EMD):c.82+3A>G
NM_000183.3(HADHB):c.1252A>G (p.Asn418Asp)
NM_000183.3(HADHB):c.1399A>C (p.Met467Leu)
NM_000183.3(HADHB):c.527C>G (p.Ser176Ter) rs951478194
NM_000183.3(HADHB):c.685C>T (p.Arg229Ter) rs759136382
NM_000231.3(SGCG):c.117T>A (p.Phe39Leu) rs1877867873
NM_000231.3(SGCG):c.121CTT[1] (p.Leu44del) rs1349925286
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
NM_000231.3(SGCG):c.177dup (p.Val60fs) rs2137501584
NM_000231.3(SGCG):c.195+3A>T
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)
NM_000231.3(SGCG):c.229G>A (p.Gly77Arg)
NM_000231.3(SGCG):c.256T>G (p.Phe86Val)
NM_000231.3(SGCG):c.275C>A (p.Ala92Asp) rs886044395
NM_000231.3(SGCG):c.361G>T (p.Glu121Ter)
NM_000231.3(SGCG):c.369dup (p.Gly124fs)
NM_000231.3(SGCG):c.385+2T>G rs200206447
NM_000231.3(SGCG):c.385G>C (p.Gly129Arg)
NM_000231.3(SGCG):c.386-2A>G rs886042757
NM_000231.3(SGCG):c.434A>G (p.Asn145Ser) rs1451332880
NM_000231.3(SGCG):c.462T>A (p.Asp154Glu)
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter) rs1881865054
NM_000231.3(SGCG):c.517G>A (p.Ala173Thr) rs886042216
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.526G>T (p.Glu176Ter) rs768134426
NM_000231.3(SGCG):c.563C>T (p.Pro188Leu) rs753806016
NM_000231.3(SGCG):c.575T>G (p.Leu192Arg) rs1555245351
NM_000231.3(SGCG):c.655G>A (p.Glu219Lys)
NM_000231.3(SGCG):c.659C>T (p.Ala220Val)
NM_000231.3(SGCG):c.684del (p.His229fs) rs2137528312
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg) rs875989949
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs) rs1553940963
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.102del (p.Glu35fs) rs2109376007
NM_000232.5(SGCB):c.111C>T (p.Asn37=) rs2109376000
NM_000232.5(SGCB):c.112A>C (p.Ser38Arg) rs1456517729
NM_000232.5(SGCB):c.11C>T (p.Ala4Val)
NM_000232.5(SGCB):c.121A>G (p.Lys41Glu)
NM_000232.5(SGCB):c.199T>C (p.Cys67Arg)
NM_000232.5(SGCB):c.243+1548T>C
NM_000232.5(SGCB):c.243+1G>T rs1553940663
NM_000232.5(SGCB):c.253_254del (p.Val85fs) rs1553940274
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu) rs104893869
NM_000232.5(SGCB):c.275T>C (p.Ile92Thr)
NM_000232.5(SGCB):c.278G>A (p.Gly93Glu)
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala) rs1018529334
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg) rs104893870
NM_000232.5(SGCB):c.34-1G>A rs1484409119
NM_000232.5(SGCB):c.346A>G (p.Met116Val) rs752168132
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer) rs1578126090
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
NM_000232.5(SGCB):c.377C>T (p.Thr126Ile)
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer) rs751427729
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter) rs1013015106
NM_000232.5(SGCB):c.413C>T (p.Thr138Ile)
NM_000232.5(SGCB):c.416G>A (p.Gly139Asp) rs1560567653
NM_000232.5(SGCB):c.460A>G (p.Ser154Gly)
NM_000232.5(SGCB):c.479C>T (p.Thr160Ile)
NM_000232.5(SGCB):c.539del (p.Phe180fs) rs1737176330
NM_000232.5(SGCB):c.572T>G (p.Leu191Trp)
NM_000232.5(SGCB):c.630C>A (p.Ser210Arg)
NM_000232.5(SGCB):c.644A>T (p.Asp215Val)
NM_000232.5(SGCB):c.650del (p.Asn217fs) rs1553940079
NM_000232.5(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000232.5(SGCB):c.718G>A (p.Glu240Lys)
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter) rs771814273
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_000232.5(SGCB):c.881C>T (p.Thr294Met)
NM_000232.5(SGCB):c.947A>G (p.Asn316Ser)
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
NM_001036.6(RYR3):c.11914G>T (p.Asp3972Tyr)
NM_001036.6(RYR3):c.11G>C (p.Gly4Ala) rs375998723
NM_001036.6(RYR3):c.12785C>A (p.Thr4262Asn)
NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)
NM_001101362.3(KBTBD13):c.166G>A (p.Gly56Arg)
NM_001101362.3(KBTBD13):c.176_177delinsAG (p.Arg59Gln)
NM_001101362.3(KBTBD13):c.238C>T (p.Gln80Ter) rs886051333
NM_001101362.3(KBTBD13):c.350G>C (p.Gly117Ala)
NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro) rs777916743
NM_001101362.3(KBTBD13):c.581C>T (p.Pro194Leu) rs1481658087
NM_001101362.3(KBTBD13):c.634_638del (p.Tyr212fs) rs748327666
NM_001101362.3(KBTBD13):c.718G>A (p.Glu240Lys) rs1293899823
NM_001161403.3(LIMS2):c.1025_*22del (p.Ter342Xaa)
NM_001161403.3(LIMS2):c.107A>G (p.Tyr36Cys)
NM_001161403.3(LIMS2):c.11+1287G>T
NM_001161403.3(LIMS2):c.11+1291C>G
NM_001161403.3(LIMS2):c.11+1332_11+1333dup rs140836565
NM_001161403.3(LIMS2):c.143G>A (p.Arg48Gln)
NM_001161403.3(LIMS2):c.155A>G (p.Glu52Gly)
NM_001161403.3(LIMS2):c.158G>A (p.Gly53Glu)
NM_001161403.3(LIMS2):c.182G>A (p.Arg61Gln)
NM_001161403.3(LIMS2):c.345GAA[1] (p.Lys116del) rs762526323
NM_001161403.3(LIMS2):c.386G>A (p.Arg129His)
NM_001161403.3(LIMS2):c.386G>T (p.Arg129Leu)
NM_001161403.3(LIMS2):c.40G>A (p.Val14Met)
NM_001161403.3(LIMS2):c.458T>C (p.Met153Thr)
NM_001161403.3(LIMS2):c.566G>A (p.Cys189Tyr)
NM_001161403.3(LIMS2):c.583G>A (p.Val195Ile)
NM_001161403.3(LIMS2):c.584T>C (p.Val195Ala)
NM_001161403.3(LIMS2):c.623G>A (p.Arg208Gln)
NM_001161403.3(LIMS2):c.634G>A (p.Ala212Thr)
NM_001161403.3(LIMS2):c.661-2A>C rs766965539
NM_001161403.3(LIMS2):c.665_666del (p.Phe222fs) rs750940675
NM_001161403.3(LIMS2):c.669_672del (p.Cys224fs) rs746910960
NM_001161403.3(LIMS2):c.703C>T (p.Arg235Trp)
NM_001161403.3(LIMS2):c.704G>A (p.Arg235Gln)
NM_001161403.3(LIMS2):c.73G>A (p.Ala25Thr) rs201527546
NM_001161403.3(LIMS2):c.754-2A>G
NM_001161403.3(LIMS2):c.799G>A (p.Asp267Asn)
NM_001161403.3(LIMS2):c.809C>T (p.Ser270Leu)
NM_001161403.3(LIMS2):c.884A>G (p.Lys295Arg)
NM_001161403.3(LIMS2):c.898G>C (p.Asp300His)
NM_001161403.3(LIMS2):c.940C>A (p.Leu314Met) rs1682159709
NM_001161403.3(LIMS2):c.958_969dup (p.Leu320_Leu323dup) rs752066748
NM_001195518.2(MICU1):c.40del (p.Ala14fs) rs749124658
NM_001195518.2(MICU1):c.765dup (p.Met256fs)
NM_001199563.2(BVES):c.1033G>A (p.Val345Ile)
NM_001199563.2(BVES):c.1073A>G (p.Gln358Arg)
NM_001199563.2(BVES):c.184C>G (p.Leu62Val)
NM_001199563.2(BVES):c.199A>G (p.Ile67Val)
NM_001199563.2(BVES):c.244G>A (p.Val82Ile)
NM_001199563.2(BVES):c.263G>A (p.Arg88Gln)
NM_001199563.2(BVES):c.386G>A (p.Arg129Gln)
NM_001199563.2(BVES):c.467A>G (p.Lys156Arg)
NM_001199563.2(BVES):c.515G>A (p.Arg172His)
NM_001199563.2(BVES):c.551C>T (p.Ser184Phe)
NM_001199563.2(BVES):c.569T>C (p.Leu190Pro)
NM_001199563.2(BVES):c.572A>G (p.His191Arg)
NM_001199563.2(BVES):c.64G>C (p.Glu22Gln)
NM_001199563.2(BVES):c.74T>C (p.Ile25Thr)
NM_001199563.2(BVES):c.758T>C (p.Ile253Thr)
NM_001199563.2(BVES):c.771C>G (p.Ile257Met)
NM_001199563.2(BVES):c.807A>T (p.Leu269Phe)
NM_001199563.2(BVES):c.841C>G (p.Leu281Val)
NM_001199563.2(BVES):c.876G>A (p.Met292Ile)
NM_001199563.2(BVES):c.931C>T (p.Arg311Trp)
NM_001199563.2(BVES):c.937A>G (p.Thr313Ala)
NM_001199563.2(BVES):c.938C>T (p.Thr313Ile)
NM_001199563.2(BVES):c.938_939insT (p.Ser314fs)
NM_001199563.2(POPDC1):c.471G>T (p.Lys157Asn)
NM_001199563.2(POPDC1):c.602C>T (p.Ser201Phe) rs869025337
NM_001199563.2(POPDC1):c.932G>A (p.Arg311Gln)
NM_001231.5(CASQ1):c.1176TGA[2] (p.Asp395_Asp396del) rs754288969
NM_001231.5(CASQ1):c.134G>T (p.Gly45Val) rs138101305
NM_001231.5(CASQ1):c.142C>T (p.Arg48Cys)
NM_001231.5(CASQ1):c.429G>C (p.Glu143Asp)
NM_001231.5(CASQ1):c.46del (p.Arg16fs)
NM_001231.5(CASQ1):c.592G>A (p.Glu198Lys)
NM_001231.5(CASQ1):c.715C>G (p.Pro239Ala)
NM_001231.5(CASQ1):c.748GAG[1] (p.Glu251del) rs557262712
NM_001231.5(CASQ1):c.984+2T>G
NM_001378030.1(CCDC78):c.1015G>A (p.Val339Met)
NM_001378030.1(CCDC78):c.1053+1G>A
NM_001378030.1(CCDC78):c.1114G>A (p.Gly372Arg) rs780209156
NM_001378030.1(CCDC78):c.267+1G>C
NM_001378030.1(CCDC78):c.548T>C (p.Leu183Pro)
NM_001843.4(CNTN1):c.2396C>T (p.Ala799Val)
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer) rs764792655
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859
NM_001953.5(TYMP):c.809T>C (p.Leu270Pro) rs1178421926
NM_001953.5(TYMP):c.928+1G>A rs1064792876
NM_002206.3(ITGA7):c.1064T>G (p.Val355Gly)
NM_002206.3(ITGA7):c.1071delinsAT (p.Tyr358fs) rs2136033955
NM_002206.3(ITGA7):c.1087G>C (p.Gly363Arg)
NM_002206.3(ITGA7):c.1088dup (p.His364fs) rs587780362
NM_002206.3(ITGA7):c.1127C>T (p.Ser376Phe)
NM_002206.3(ITGA7):c.1238T>A (p.Ile413Asn)
NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs) rs1474512248
NM_002206.3(ITGA7):c.1465G>A (p.Asp489Asn)
NM_002206.3(ITGA7):c.1474C>T (p.Gln492Ter) rs2136025217
NM_002206.3(ITGA7):c.1499C>G (p.Ser500Trp)
NM_002206.3(ITGA7):c.1568C>G (p.Ala523Gly)
NM_002206.3(ITGA7):c.1588G>T (p.Ala530Ser) rs1872768511
NM_002206.3(ITGA7):c.1592_1593delinsGG (p.Asp531Gly)
NM_002206.3(ITGA7):c.1601G>A (p.Arg534Gln) rs774516318
NM_002206.3(ITGA7):c.171_181del (p.Leu58fs) rs2136102011
NM_002206.3(ITGA7):c.1793A>C (p.Gln598Pro)
NM_002206.3(ITGA7):c.1816G>T (p.Ala606Ser)
NM_002206.3(ITGA7):c.1825C>T (p.Gln609Ter) rs148136365
NM_002206.3(ITGA7):c.1A>G (p.Met1Val)
NM_002206.3(ITGA7):c.2053A>G (p.Ile685Val)
NM_002206.3(ITGA7):c.2121T>G (p.Asp707Glu)
NM_002206.3(ITGA7):c.2143G>A (p.Val715Ile)
NM_002206.3(ITGA7):c.2269G>A (p.Gly757Ser)
NM_002206.3(ITGA7):c.226C>T (p.Gln76Ter) rs2136073462
NM_002206.3(ITGA7):c.2281A>G (p.Thr761Ala)
NM_002206.3(ITGA7):c.2282C>G (p.Thr761Ser) rs550342721
NM_002206.3(ITGA7):c.2286C>A (p.Phe762Leu)
NM_002206.3(ITGA7):c.2357C>T (p.Thr786Met)
NM_002206.3(ITGA7):c.2428G>C (p.Ala810Pro) rs1387658204
NM_002206.3(ITGA7):c.253G>A (p.Ala85Thr)
NM_002206.3(ITGA7):c.2813C>G (p.Ser938Cys)
NM_002206.3(ITGA7):c.2861C>T (p.Thr954Met) rs142361411
NM_002206.3(ITGA7):c.2980C>G (p.Leu994Val)
NM_002206.3(ITGA7):c.2988_2989inv (p.Ile997Leu)
NM_002206.3(ITGA7):c.2996G>A (p.Arg999Gln)
NM_002206.3(ITGA7):c.3010G>A (p.Val1004Met) rs776269261
NM_002206.3(ITGA7):c.3060C>G (p.Ile1020Met)
NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter) rs754699820
NM_002206.3(ITGA7):c.3113G>T (p.Trp1038Leu)
NM_002206.3(ITGA7):c.3158C>G (p.Ala1053Gly) rs1239418668
NM_002206.3(ITGA7):c.3373G>A (p.Glu1125Lys) rs371203166
NM_002206.3(ITGA7):c.380G>C (p.Ser127Thr)
NM_002206.3(ITGA7):c.467C>A (p.Thr156Lys) rs375671999
NM_002206.3(ITGA7):c.632A>G (p.Tyr211Cys)
NM_002206.3(ITGA7):c.668A>G (p.Lys223Arg) rs1263731616
NM_002206.3(ITGA7):c.680T>G (p.Phe227Cys)
NM_002206.3(ITGA7):c.832G>A (p.Glu278Lys)
NM_002206.3(ITGA7):c.943C>T (p.Arg315Cys)
NM_002206.3(ITGA7):c.944G>C (p.Arg315Pro)
NM_003418.5(CNBP):c.156C>A (p.Asp52Glu)
NM_004320.6(ATP2A1):c.1051G>A (p.Asp351Asn)
NM_004320.6(ATP2A1):c.1106T>C (p.Ile369Thr)
NM_004320.6(ATP2A1):c.1168G>A (p.Ala390Thr)
NM_004320.6(ATP2A1):c.1253C>T (p.Ala418Val) rs2152209408
NM_004320.6(ATP2A1):c.1430A>G (p.Gln477Arg)
NM_004320.6(ATP2A1):c.1526G>A (p.Gly509Asp)
NM_004320.6(ATP2A1):c.1603G>A (p.Val535Met) rs1433734726
NM_004320.6(ATP2A1):c.1636A>G (p.Met546Val)
NM_004320.6(ATP2A1):c.1637T>C (p.Met546Thr)
NM_004320.6(ATP2A1):c.1667G>A (p.Arg556Gln)
NM_004320.6(ATP2A1):c.1672_1673dup (p.Leu559fs) rs1433893346
NM_004320.6(ATP2A1):c.1676T>C (p.Leu559Pro)
NM_004320.6(ATP2A1):c.1710C>A (p.Pro570=)
NM_004320.6(ATP2A1):c.1764_1764+2delinsTGG rs1596682330
NM_004320.6(ATP2A1):c.1778T>A (p.Phe593Tyr)
NM_004320.6(ATP2A1):c.1780G>C (p.Val594Leu) rs142091964
NM_004320.6(ATP2A1):c.1810C>T (p.Arg604Cys) rs765984663
NM_004320.6(ATP2A1):c.1813A>G (p.Lys605Glu)
NM_004320.6(ATP2A1):c.185T>G (p.Val62Gly)
NM_004320.6(ATP2A1):c.1936G>C (p.Glu646Gln)
NM_004320.6(ATP2A1):c.1957T>C (p.Tyr653His)
NM_004320.6(ATP2A1):c.1961C>A (p.Thr654Lys) rs148957878
NM_004320.6(ATP2A1):c.2012G>A (p.Arg671Gln)
NM_004320.6(ATP2A1):c.2089A>G (p.Ile697Val)
NM_004320.6(ATP2A1):c.2113G>A (p.Val705Ile)
NM_004320.6(ATP2A1):c.2122G>A (p.Ala708Thr)
NM_004320.6(ATP2A1):c.2248G>A (p.Gly750Ser)
NM_004320.6(ATP2A1):c.2323A>C (p.Ile775Leu)
NM_004320.6(ATP2A1):c.2431C>A (p.Pro811Thr)
NM_004320.6(ATP2A1):c.2464del (p.Arg822fs) rs751365374
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs) rs751365374
NM_004320.6(ATP2A1):c.2480C>T (p.Pro827Leu)
NM_004320.6(ATP2A1):c.2506C>T (p.Arg836Cys)
NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter) rs368234110
NM_004320.6(ATP2A1):c.2574C>G (p.Tyr858Ter) rs368234110
NM_004320.6(ATP2A1):c.2682del (p.Glu895fs) rs2152215136
NM_004320.6(ATP2A1):c.2959G>C (p.Val987Leu) rs200445830
NM_004320.6(ATP2A1):c.324+1G>A rs1963456518
NM_004320.6(ATP2A1):c.401G>A (p.Arg134His)
NM_004320.6(ATP2A1):c.436G>A (p.Val146Ile)
NM_004320.6(ATP2A1):c.520C>T (p.Arg174Trp)
NM_004320.6(ATP2A1):c.527A>T (p.Asp176Val) rs1263551630
NM_004320.6(ATP2A1):c.554T>C (p.Val185Ala)
NM_004320.6(ATP2A1):c.562A>G (p.Ile188Val)
NM_004320.6(ATP2A1):c.580G>T (p.Val194Phe) rs201515814
NM_004320.6(ATP2A1):c.58G>A (p.Glu20Lys)
NM_004320.6(ATP2A1):c.592del (p.Arg198fs) rs1187948767
NM_004320.6(ATP2A1):c.632G>T (p.Gly211Val)
NM_004320.6(ATP2A1):c.649G>A (p.Gly217Ser)
NM_004320.6(ATP2A1):c.671C>G (p.Ala224Gly)
NM_004320.6(ATP2A1):c.678_679inv (p.Gly227Ser)
NM_004320.6(ATP2A1):c.691G>A (p.Glu231Lys) rs778514898
NM_004320.6(ATP2A1):c.730C>A (p.Gln244Lys)
NM_004320.6(ATP2A1):c.766T>G (p.Phe256Val) rs2152203938
NM_004320.6(ATP2A1):c.790A>G (p.Ile264Val)
NM_004320.6(ATP2A1):c.856G>A (p.Gly286Ser)
NM_004320.6(ATP2A1):c.958G>T (p.Ala320Ser) rs766101847
NM_004320.6(ATP2A1):c.973C>T (p.Arg325Trp)
NM_004320.6(ATP2A1):c.98T>A (p.Leu33Gln) rs1409431511
NM_004409.5(DMPK):c.1178C>T (p.Pro393Leu)
NM_004409.5(DMPK):c.1580T>G (p.Leu527Arg)
NM_004409.5(DMPK):c.161-131G>T
NM_004409.5(DMPK):c.1685C>T (p.Pro562Leu)
NM_004409.5(DMPK):c.1754T>C (p.Leu585Pro)
NM_004409.5(DMPK):c.628C>T (p.Arg210Cys)
NM_004409.5(DMPK):c.983G>A (p.Gly328Asp)
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla) rs193922941
NM_004643.4(PABPN1):c.-1G>T
NM_004643.4(PABPN1):c.18_26dup (p.Ala11_Gly12insAlaAlaAla) rs1888252890
NM_004643.4(PABPN1):c.198_203dup (p.Glu71_Glu72insProGlu)
NM_004643.4(PABPN1):c.21_26dup (p.Ala11_Gly12insAlaAla)
NM_004643.4(PABPN1):c.242C>G (p.Pro81Arg)
NM_004643.4(PABPN1):c.24AGC[4] (p.Ala11_Gly12insAla) rs1401656265
NM_004643.4(PABPN1):c.269C>T (p.Ser90Leu)
NM_004643.4(PABPN1):c.26C>T (p.Ala9Val)
NM_004643.4(PABPN1):c.31G>A (p.Ala11Thr) rs1045060319
NM_004643.4(PABPN1):c.35G>C (p.Gly12Ala) rs104894466
NM_004643.4(PABPN1):c.37G>C (p.Ala13Pro)
NM_004643.4(PABPN1):c.3GGC[6] (p.Ala11del)
NM_004643.4(PABPN1):c.3GGC[8] (p.Ala11_Gly12insAla) rs193922941
NM_004643.4(PABPN1):c.481A>G (p.Met161Val)
NM_004643.4(PABPN1):c.624_625dup (p.Ser209fs)
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val) rs104894269
NM_005198.5(CHKB):c.1005AGA[1] (p.Glu336del)
NM_005198.5(CHKB):c.856T>C (p.Tyr286His) rs764474062
NM_005876.5(SPEG):c.1114C>G (p.Arg372Gly)
NM_005876.5(SPEG):c.1625C>A (p.Pro542His) rs927960851
NM_005876.5(SPEG):c.2372G>A (p.Ser791Asn)
NM_005876.5(SPEG):c.257C>G (p.Pro86Arg)
NM_005876.5(SPEG):c.3074A>G (p.Lys1025Arg)
NM_005876.5(SPEG):c.340C>T (p.Arg114Trp) rs570323054
NM_005876.5(SPEG):c.4117C>G (p.Pro1373Ala) rs200713879
NM_005876.5(SPEG):c.4362G>T (p.Val1454=)
NM_005876.5(SPEG):c.4377G>A (p.Met1459Ile)
NM_005876.5(SPEG):c.4660G>A (p.Val1554Ile)
NM_005876.5(SPEG):c.5707C>T (p.Arg1903Trp)
NM_005876.5(SPEG):c.6415C>G (p.Arg2139Gly)
NM_005876.5(SPEG):c.6422G>C (p.Arg2141Pro)
NM_005876.5(SPEG):c.6697C>A (p.Gln2233Lys) rs587777672
NM_005876.5(SPEG):c.6739_6740delinsTT (p.Gln2247Leu) rs2125558050
NM_005876.5(SPEG):c.7262_7280dup (p.Ala2428fs)
NM_005876.5(SPEG):c.7447C>T (p.Arg2483Cys)
NM_005876.5(SPEG):c.7847_7849del (p.Ser2616del)
NM_005876.5(SPEG):c.7940C>A (p.Ala2647Glu)
NM_005876.5(SPEG):c.8009G>A (p.Cys2670Tyr)
NM_005876.5(SPEG):c.8047C>T (p.Pro2683Ser)
NM_005876.5(SPEG):c.851C>T (p.Pro284Leu)
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_005876.5(SPEG):c.9346A>G (p.Arg3116Gly)
NM_006063.3(KLHL41):c.1416dup (p.Gly473fs) rs749464576
NM_006063.3(KLHL41):c.1432C>G (p.Leu478Val)
NM_006063.3(KLHL41):c.1666G>A (p.Glu556Lys)
NM_006063.3(KLHL41):c.215del (p.Lys72fs) rs775513051
NM_006063.3(KLHL41):c.427C>T (p.Leu143Phe)
NM_006790.3(MYOT):c.1084G>A (p.Glu362Lys)
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.3(MYOT):c.1234G>C (p.Asp412His)
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) rs145427063
NM_006790.3(MYOT):c.1418T>C (p.Val473Ala) rs748921791
NM_006790.3(MYOT):c.151A>G (p.Arg51Gly) rs2149978850
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_006790.3(MYOT):c.170del (p.Thr57fs)
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) rs121908458
NM_006790.3(MYOT):c.225G>C (p.Gln75His)
NM_006790.3(MYOT):c.280G>A (p.Ala94Thr)
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.3(MYOT):c.392C>T (p.Ala131Val)
NM_006790.3(MYOT):c.409G>A (p.Ala137Thr)
NM_006790.3(MYOT):c.508A>C (p.Thr170Pro)
NM_006790.3(MYOT):c.556G>T (p.Ala186Ser)
NM_006790.3(MYOT):c.563G>A (p.Arg188Lys)
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu) rs1561660796
NM_006790.3(MYOT):c.680_683del (p.Val227fs) rs775014749
NM_006790.3(MYOT):c.775A>G (p.Met259Val)
NM_006790.3(MYOT):c.866C>G (p.Thr289Arg)
NM_006876.3(B4GAT1):c.612T>G (p.Asn204Lys)
NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val)
NM_012470.4(TNPO3):c.1249A>G (p.Met417Val)
NM_012470.4(TNPO3):c.1423dup (p.Thr475fs)
NM_012470.4(TNPO3):c.1525G>C (p.Gly509Arg)
NM_012470.4(TNPO3):c.1592G>A (p.Arg531Gln)
NM_012470.4(TNPO3):c.1616A>G (p.Asn539Ser)
NM_012470.4(TNPO3):c.1632T>G (p.Ile544Met)
NM_012470.4(TNPO3):c.163C>T (p.Gln55Ter) rs1804050408
NM_012470.4(TNPO3):c.1722G>C (p.Leu574Phe)
NM_012470.4(TNPO3):c.1735G>A (p.Glu579Lys)
NM_012470.4(TNPO3):c.1969C>T (p.Arg657Trp)
NM_012470.4(TNPO3):c.201G>C (p.Met67Ile)
NM_012470.4(TNPO3):c.2080G>A (p.Val694Ile)
NM_012470.4(TNPO3):c.2145A>T (p.Glu715Asp)
NM_012470.4(TNPO3):c.2431-2A>C rs886043142
NM_012470.4(TNPO3):c.2441A>G (p.Asp814Gly)
NM_012470.4(TNPO3):c.2537C>G (p.Pro846Arg)
NM_012470.4(TNPO3):c.472del (p.Ser158fs)
NM_012470.4(TNPO3):c.481A>G (p.Ile161Val)
NM_012470.4(TNPO3):c.533G>A (p.Ser178Asn)
NM_012470.4(TNPO3):c.619A>G (p.Ser207Gly)
NM_012470.4(TNPO3):c.643G>A (p.Asp215Asn)
NM_012470.4(TNPO3):c.668_672del (p.Lys223fs)
NM_012470.4(TNPO3):c.761A>G (p.Tyr254Cys)
NM_012470.4(TNPO3):c.788T>G (p.Leu263Trp)
NM_012470.4(TNPO3):c.7G>A (p.Gly3Arg)
NM_012470.4(TNPO3):c.831G>C (p.Glu277Asp)
NM_012470.4(TNPO3):c.862G>C (p.Asp288His) rs758890890
NM_012470.4(TNPO3):c.991G>T (p.Ala331Ser) rs1801818228
NM_014254.3(RXYLT1):c.233A>G (p.Gln78Arg)
NM_014254.3(RXYLT1):c.992C>T (p.Pro331Leu)
NM_015602.4(TOR1AIP1):c.1133dup (p.Tyr379fs)
NM_015602.4(TOR1AIP1):c.1199G>A (p.Ser400Asn)
NM_015602.4(TOR1AIP1):c.11A>G (p.Asp4Gly)
NM_015602.4(TOR1AIP1):c.1211G>A (p.Arg404Gln)
NM_015602.4(TOR1AIP1):c.1419G>T (p.Gln473His)
NM_015602.4(TOR1AIP1):c.1609A>G (p.Lys537Glu) rs1558048637
NM_015602.4(TOR1AIP1):c.326G>A (p.Arg109Lys)
NM_015602.4(TOR1AIP1):c.351G>C (p.Gln117His)
NM_015602.4(TOR1AIP1):c.507C>A (p.Ser169Arg)
NM_015602.4(TOR1AIP1):c.65G>A (p.Arg22Lys)
NM_015602.4(TOR1AIP1):c.666A>T (p.Glu222Asp)
NM_015602.4(TOR1AIP1):c.7G>A (p.Gly3Ser)
NM_016474.5(CCDC174):c.1089G>T (p.Glu363Asp)
NM_016532.4(INPP5K):c.32G>A (p.Gly11Asp)
NM_017534.6(MYH2):c.1275C>G (p.Asn425Lys) rs151000841
NM_017534.6(MYH2):c.1395T>C (p.Ile465=)
NM_017534.6(MYH2):c.1518G>T (p.Lys506Asn)
NM_017534.6(MYH2):c.1565C>T (p.Ala522Val)
NM_017534.6(MYH2):c.1776C>G (p.Asn592Lys) rs763994556
NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys) rs1555571267
NM_017534.6(MYH2):c.1796A>G (p.Lys599Arg)
NM_017534.6(MYH2):c.18A>T (p.Glu6Asp)
NM_017534.6(MYH2):c.2536T>G (p.Leu846Val)
NM_017534.6(MYH2):c.2542A>C (p.Ser848Arg)
NM_017534.6(MYH2):c.2609C>T (p.Ala870Val) rs1567731278
NM_017534.6(MYH2):c.2666A>G (p.Glu889Gly)
NM_017534.6(MYH2):c.3005A>G (p.Lys1002Arg) rs1324293373
NM_017534.6(MYH2):c.3011C>A (p.Ala1004Asp)
NM_017534.6(MYH2):c.3019G>T (p.Glu1007Ter) rs1226690028
NM_017534.6(MYH2):c.3169G>A (p.Ala1057Thr)
NM_017534.6(MYH2):c.3404G>A (p.Arg1135Gln)
NM_017534.6(MYH2):c.3475G>T (p.Ala1159Ser)
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=) rs767243766
NM_017534.6(MYH2):c.3777G>A (p.Glu1259=)
NM_017534.6(MYH2):c.380A>G (p.Asn127Ser)
NM_017534.6(MYH2):c.4000G>T (p.Ala1334Ser) rs779257410
NM_017534.6(MYH2):c.4180G>T (p.Glu1394Ter)
NM_017534.6(MYH2):c.4360A>G (p.Asn1454Asp)
NM_017534.6(MYH2):c.4570G>A (p.Glu1524Lys)
NM_017534.6(MYH2):c.5026C>G (p.Gln1676Glu)
NM_017534.6(MYH2):c.5074G>A (p.Glu1692Lys)
NM_017534.6(MYH2):c.5084G>A (p.Arg1695Gln)
NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr) rs147813930
NM_017534.6(MYH2):c.5513G>A (p.Arg1838His)
NM_017534.6(MYH2):c.5527G>C (p.Val1843Leu)
NM_017534.6(MYH2):c.5555G>A (p.Arg1852Gln)
NM_017534.6(MYH2):c.5664_5668dup (p.Glu1890fs)
NM_017534.6(MYH2):c.5673+1G>C rs1400481053
NM_017534.6(MYH2):c.70C>T (p.Arg24Cys)
NM_017534.6(MYH2):c.710A>G (p.Lys237Arg)
NM_017534.6(MYH2):c.71G>A (p.Arg24His)
NM_017534.6(MYH2):c.736C>T (p.Arg246Cys)
NM_017534.6(MYH2):c.824G>T (p.Arg275Ile)
NM_018116.4(MSTO1):c.1034G>A (p.Arg345His)
NM_018116.4(MSTO1):c.1259del (p.Gly420fs) rs1248439783
NM_018116.4(MSTO1):c.220+5G>C
NM_018116.4(MSTO1):c.767G>A (p.Arg256Gln)
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser) rs368217486
NM_018834.6(MATR3):c.2521C>G (p.Arg841Gly)
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_018834.6(MATR3):c.358A>G (p.Arg120Gly)
NM_020451.3(SELENON):c.-11_81del (p.Met1fs) rs1557813850
NM_020451.3(SELENON):c.1109C>T (p.Thr370Met)
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del) rs770747626
NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)
NM_020451.3(SELENON):c.125_136dup (p.Ala42_Ala45dup) rs999744359
NM_020451.3(SELENON):c.1297T>G (p.Phe433Val)
NM_020451.3(SELENON):c.1350C>G (p.Ile450Met) rs797045949
NM_020451.3(SELENON):c.1351C>G (p.Leu451Val) rs200431320
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) rs767530943
NM_020451.3(SELENON):c.1450G>A (p.Glu484Lys) rs727504149
NM_020451.3(SELENON):c.1510_1512del (p.Glu504del) rs1247672340
NM_020451.3(SELENON):c.1567G>A (p.Val523Met)
NM_020451.3(SELENON):c.1730T>C (p.Leu577Pro)
NM_020451.3(SELENON):c.184-3C>T rs1035976243
NM_020451.3(SELENON):c.200C>A (p.Thr67Asn)
NM_020451.3(SELENON):c.257A>G (p.Tyr86Cys) rs1019702401
NM_020451.3(SELENON):c.273G>C (p.Glu91Asp)
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.559G>A (p.Gly187Ser)
NM_020451.3(SELENON):c.58C>T (p.Pro20Ser) rs1329648911
NM_020451.3(SELENON):c.635C>T (p.Pro212Leu)
NM_020451.3(SELENON):c.650T>C (p.Leu217Pro)
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.728C>T (p.Pro243Leu) rs745856385
NM_020451.3(SELENON):c.748-2_760del rs758934983
NM_020451.3(SELENON):c.760C>T (p.Arg254Trp) rs374195814
NM_020451.3(SELENON):c.816G>C (p.Gln272His)
NM_020451.3(SELENON):c.821C>G (p.Ala274Gly)
NM_020451.3(SELENON):c.863_864del (p.Val288fs) rs1184282261
NM_021942.6(TRAPPC11):c.1079G>A (p.Arg360Gln)
NM_021942.6(TRAPPC11):c.1081A>C (p.Lys361Gln)
NM_021942.6(TRAPPC11):c.1113+2T>G rs2111348918
NM_021942.6(TRAPPC11):c.1170C>G (p.Asp390Glu) rs1328121937
NM_021942.6(TRAPPC11):c.1322C>T (p.Ala441Val)
NM_021942.6(TRAPPC11):c.1353G>T (p.Met451Ile)
NM_021942.6(TRAPPC11):c.1366+1G>A
NM_021942.6(TRAPPC11):c.1451G>A (p.Arg484Gln)
NM_021942.6(TRAPPC11):c.1493C>G (p.Thr498Arg)
NM_021942.6(TRAPPC11):c.1681G>T (p.Ala561Ser)
NM_021942.6(TRAPPC11):c.16T>C (p.Trp6Arg) rs981293069
NM_021942.6(TRAPPC11):c.1724A>G (p.Asn575Ser)
NM_021942.6(TRAPPC11):c.1893+3A>G rs886041053
NM_021942.6(TRAPPC11):c.190A>G (p.Lys64Glu) rs1734713616
NM_021942.6(TRAPPC11):c.2014G>C (p.Val672Leu) rs1415116624
NM_021942.6(TRAPPC11):c.208A>G (p.Thr70Ala)
NM_021942.6(TRAPPC11):c.2112G>C (p.Gln704His)
NM_021942.6(TRAPPC11):c.2123G>A (p.Gly708Glu)
NM_021942.6(TRAPPC11):c.2170A>G (p.Lys724Glu)
NM_021942.6(TRAPPC11):c.2393A>G (p.Asp798Gly)
NM_021942.6(TRAPPC11):c.2436_2440del (p.Glu813fs) rs2111068286
NM_021942.6(TRAPPC11):c.2530C>T (p.Arg844Cys) rs149626892
NM_021942.6(TRAPPC11):c.2593G>A (p.Val865Ile)
NM_021942.6(TRAPPC11):c.2609T>C (p.Ile870Thr)
NM_021942.6(TRAPPC11):c.2776A>G (p.Thr926Ala) rs1219763538
NM_021942.6(TRAPPC11):c.2875G>A (p.Ala959Thr)
NM_021942.6(TRAPPC11):c.2966C>T (p.Thr989Ile)
NM_021942.6(TRAPPC11):c.2989A>G (p.Ile997Val)
NM_021942.6(TRAPPC11):c.301T>C (p.Tyr101His)
NM_021942.6(TRAPPC11):c.3032A>C (p.Asn1011Thr)
NM_021942.6(TRAPPC11):c.3040C>T (p.Leu1014Phe) rs79057512
NM_021942.6(TRAPPC11):c.3104A>T (p.His1035Leu) rs762555782
NM_021942.6(TRAPPC11):c.3242A>C (p.Tyr1081Ser)
NM_021942.6(TRAPPC11):c.3254C>T (p.Ala1085Val)
NM_021942.6(TRAPPC11):c.329G>T (p.Trp110Leu)
NM_021942.6(TRAPPC11):c.3340A>G (p.Thr1114Ala) rs866236252
NM_021942.6(TRAPPC11):c.3377A>G (p.Asp1126Gly)
NM_021942.6(TRAPPC11):c.533C>T (p.Thr178Ile)
NM_021942.6(TRAPPC11):c.728C>T (p.Ala243Val)
NM_021942.6(TRAPPC11):c.830A>G (p.Lys277Arg)
NM_021942.6(TRAPPC11):c.895A>G (p.Ile299Val)
NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg) rs533000838
NM_021942.6(TRAPPC11):c.964C>T (p.Gln322Ter) rs1483190866
NM_031372.4(HNRNPDL):c.101C>G (p.Pro34Arg)
NM_031372.4(HNRNPDL):c.101_109del (p.Pro34_Arg36del) rs759911561
NM_031372.4(HNRNPDL):c.110_113delinsCGCC (p.Gln37_Leu38delinsProPro)
NM_031372.4(HNRNPDL):c.1132G>A (p.Asp378Asn) rs587777669
NM_031372.4(HNRNPDL):c.1132G>C (p.Asp378His) rs587777669
NM_031372.4(HNRNPDL):c.128C>T (p.Pro43Leu) rs748553069
NM_031372.4(HNRNPDL):c.169G>A (p.Ala57Thr) rs775253636
NM_031372.4(HNRNPDL):c.209C>T (p.Ala70Val)
NM_031372.4(HNRNPDL):c.244C>T (p.Arg82Cys)
NM_031372.4(HNRNPDL):c.245G>T (p.Arg82Leu) rs200595389
NM_031372.4(HNRNPDL):c.248C>A (p.Pro83Gln)
NM_031372.4(HNRNPDL):c.266_300del (p.His89fs)
NM_031372.4(HNRNPDL):c.294CGC[4] (p.Ala104dup) rs776181176
NM_031372.4(HNRNPDL):c.316C>G (p.Arg106Gly)
NM_031372.4(HNRNPDL):c.324_341del (p.Arg109_Ala114del) rs760683509
NM_031372.4(HNRNPDL):c.42G>C (p.Leu14Phe) rs753174711
NM_031372.4(HNRNPDL):c.814_815delinsAT (p.Glu272Ile) rs2110028841
NM_031372.4(HNRNPDL):c.88T>G (p.Trp30Gly)
NM_031372.4(HNRNPDL):c.92GGCCGC[3] (p.31RP[3]) rs1447722708
NM_032608.7(MYO18B):c.1195del (p.Gln399fs) rs2145587855
NM_032608.7(MYO18B):c.1225C>T (p.Arg409Trp)
NM_032608.7(MYO18B):c.136G>A (p.Glu46Lys)
NM_032608.7(MYO18B):c.2183C>T (p.Thr728Ile)
NM_032608.7(MYO18B):c.2191A>G (p.Ile731Val)
NM_032608.7(MYO18B):c.2396C>T (p.Ala799Val)
NM_032608.7(MYO18B):c.2503G>A (p.Ala835Thr)
NM_032608.7(MYO18B):c.2545T>C (p.Phe849Leu)
NM_032608.7(MYO18B):c.3065G>A (p.Arg1022His)
NM_032608.7(MYO18B):c.3166C>T (p.Arg1056Cys)
NM_032608.7(MYO18B):c.3174_3175dup (p.Ala1059fs) rs2145951020
NM_032608.7(MYO18B):c.3389T>C (p.Phe1130Ser)
NM_032608.7(MYO18B):c.3991C>A (p.Gln1331Lys)
NM_032608.7(MYO18B):c.4399C>T (p.Arg1467Trp)
NM_032608.7(MYO18B):c.4796del (p.Asn1599fs) rs1191610314
NM_032608.7(MYO18B):c.5971-1045_5971-1042delinsGCCA
NM_032608.7(MYO18B):c.6182C>T (p.Ala2061Val)
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) rs756408696
NM_032608.7(MYO18B):c.699dup (p.Gly234fs)
NM_032608.7(MYO18B):c.7579C>T (p.Arg2527Ter)
NM_058246.4(DNAJB6):c.114del (p.Asn38fs) rs1799690248
NM_058246.4(DNAJB6):c.122A>C (p.Glu41Ala) rs201730743
NM_058246.4(DNAJB6):c.149C>T (p.Ala50Val) rs575604496
NM_058246.4(DNAJB6):c.172G>C (p.Asp58His)
NM_058246.4(DNAJB6):c.230G>T (p.Gly77Val) rs372973038
NM_058246.4(DNAJB6):c.236-1G>C
NM_058246.4(DNAJB6):c.236-3C>G
NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu) rs387907150
NM_058246.4(DNAJB6):c.271T>C (p.Phe91Leu) rs869320701
NM_058246.4(DNAJB6):c.274A>C (p.Thr92Pro)
NM_058246.4(DNAJB6):c.277T>C (p.Phe93Leu) rs387907046
NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu) rs149278319
NM_058246.4(DNAJB6):c.376C>T (p.Arg126Ter)
NM_058246.4(DNAJB6):c.425C>T (p.Ser142Phe)
NM_058246.4(DNAJB6):c.488C>T (p.Ser163Leu)
NM_058246.4(DNAJB6):c.499C>G (p.Leu167Val)
NM_058246.4(DNAJB6):c.512G>T (p.Gly171Val) rs1584927273
NM_058246.4(DNAJB6):c.725G>T (p.Arg242Leu)
NM_058246.4(DNAJB6):c.731G>A (p.Arg244Gln) rs1353253340
NM_058246.4(DNAJB6):c.761C>G (p.Pro254Arg)
NM_058246.4(DNAJB6):c.779C>T (p.Pro260Leu)
NM_058246.4(DNAJB6):c.838G>A (p.Glu280Lys)
NM_058246.4(DNAJB6):c.844G>A (p.Glu282Lys) rs911721201
NM_058246.4(DNAJB6):c.866C>G (p.Pro289Arg)
NM_058246.4(DNAJB6):c.868G>A (p.Gly290Arg)
NM_058246.4(DNAJB6):c.868G>C (p.Gly290Arg) rs886044456
NM_058246.4(DNAJB6):c.869G>A (p.Gly290Glu) rs765439077
NM_058246.4(DNAJB6):c.947C>G (p.Ser316Trp) rs371304535
NM_058246.4(DNAJB6):c.947C>T (p.Ser316Leu) rs371304535
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
NM_138638.5(CFL2):c.230T>G (p.Leu77Arg)
NM_138638.5(CFL2):c.327A>G (p.Ala109=)
NM_138638.5(CFL2):c.500A>G (p.Ter167=)
NM_139343.3(BIN1):c.1002+2T>C rs1553458019
NM_139343.3(BIN1):c.1264-11_1270del rs776737413
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)
NM_139343.3(BIN1):c.1352C>A (p.Ala451Asp)
NM_139343.3(BIN1):c.1399G>A (p.Gly467Arg)
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)
NM_139343.3(BIN1):c.1620G>T (p.Gln540His)
NM_139343.3(BIN1):c.1778C>T (p.Pro593Leu)
NM_139343.3(BIN1):c.196C>T (p.Arg66Trp)
NM_139343.3(BIN1):c.239A>G (p.Lys80Arg)
NM_139343.3(BIN1):c.376A>G (p.Met126Val)
NM_139343.3(BIN1):c.785A>G (p.Asn262Ser)
NM_139343.3(BIN1):c.908C>T (p.Ser303Phe)
NM_145064.3(STAC3):c.772T>C (p.Phe258Leu)
NM_152328.5(ADSS1):c.1223G>A (p.Gly408Glu)
NM_152328.5(ADSS1):c.1265T>A (p.Leu422Gln)
NM_152328.5(ADSS1):c.1364A>T (p.Gln455Leu)
NM_152328.5(ADSS1):c.193-4994A>C
NM_152328.5(ADSS1):c.193-5037G>T
NM_152328.5(ADSS1):c.193-5103del
NM_152328.5(ADSS1):c.201C>G (p.Asn67Lys)
NM_152328.5(ADSS1):c.409G>C (p.Val137Leu)
NM_152328.5(ADSS1):c.548G>T (p.Cys183Phe)
NM_152328.5(ADSS1):c.750C>G (p.Ile250Met) rs1891336595
NM_152328.5(ADSS1):c.823T>G (p.Cys275Gly)
NM_152393.4(KLHL40):c.1327G>A (p.Gly443Ser)
NM_152393.4(KLHL40):c.460G>A (p.Asp154Asn)
NM_152393.4(KLHL40):c.601_615del (p.Trp201_Gly205del)
NM_152393.4(KLHL40):c.632C>T (p.Ala211Val)
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033
NM_152490.5(B3GALNT2):c.1013A>G (p.Asn338Ser) rs1553343724
NM_152490.5(B3GALNT2):c.1020_1021dup (p.Arg341fs) rs1276205801
NM_152490.5(B3GALNT2):c.1088T>G (p.Leu363Arg)
NM_152490.5(B3GALNT2):c.1177C>T (p.Arg393Ter) rs1300792331
NM_152490.5(B3GALNT2):c.1368+1G>C rs1479230229
NM_152490.5(B3GALNT2):c.185A>G (p.Asn62Ser)
NM_152490.5(B3GALNT2):c.215G>A (p.Ser72Asn)
NM_152490.5(B3GALNT2):c.23T>G (p.Leu8Arg) rs1437958242
NM_152490.5(B3GALNT2):c.280A>G (p.Ile94Val)
NM_152490.5(B3GALNT2):c.356A>T (p.Asn119Ile)
NM_152490.5(B3GALNT2):c.37C>T (p.Leu13Phe)
NM_152490.5(B3GALNT2):c.652-1G>C rs2102815577
NM_152490.5(B3GALNT2):c.670G>A (p.Val224Met)
NM_152490.5(B3GALNT2):c.701T>C (p.Val234Ala)
NM_152490.5(B3GALNT2):c.73T>C (p.Ser25Pro) rs1685725563
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.903dup (p.Asn302fs) rs1469279569
NM_152490.5(B3GALNT2):c.922G>A (p.Ala308Thr)
NM_152490.5(B3GALNT2):c.974T>C (p.Val325Ala)
NM_178554.6(KY):c.1895C>G (p.Ala632Gly)
NM_178554.6(KY):c.21C>G (p.Ile7Met)
NM_178554.6(KY):c.76del (p.Ala26fs)
NM_182914.3(SYNE2):c.10029G>A (p.Met3343Ile)
NM_182914.3(SYNE2):c.10046C>T (p.Ala3349Val)
NM_182914.3(SYNE2):c.10090T>G (p.Tyr3364Asp)
NM_182914.3(SYNE2):c.10139C>T (p.Thr3380Ile)
NM_182914.3(SYNE2):c.10348T>C (p.Trp3450Arg) rs375398029
NM_182914.3(SYNE2):c.10442A>G (p.Glu3481Gly)
NM_182914.3(SYNE2):c.10639G>A (p.Ala3547Thr)
NM_182914.3(SYNE2):c.1067T>C (p.Leu356Pro)
NM_182914.3(SYNE2):c.10724A>C (p.Lys3575Thr)
NM_182914.3(SYNE2):c.10948T>C (p.Tyr3650His)
NM_182914.3(SYNE2):c.11011A>G (p.Ile3671Val)
NM_182914.3(SYNE2):c.1129-3C>A
NM_182914.3(SYNE2):c.11324G>A (p.Cys3775Tyr)
NM_182914.3(SYNE2):c.11498del (p.Asp3833fs)
NM_182914.3(SYNE2):c.11545G>A (p.Glu3849Lys)
NM_182914.3(SYNE2):c.11549_11550delinsGA (p.Asp3850Gly) rs1555473349
NM_182914.3(SYNE2):c.1168C>T (p.Pro390Ser)
NM_182914.3(SYNE2):c.1171C>A (p.Pro391Thr)
NM_182914.3(SYNE2):c.11876C>G (p.Thr3959Arg)
NM_182914.3(SYNE2):c.11977-4A>G
NM_182914.3(SYNE2):c.12061C>T (p.Leu4021Phe)
NM_182914.3(SYNE2):c.12167T>G (p.Leu4056Arg) rs2153635602
NM_182914.3(SYNE2):c.12215A>G (p.Lys4072Arg)
NM_182914.3(SYNE2):c.12229G>A (p.Gly4077Arg)
NM_182914.3(SYNE2):c.12244A>G (p.Arg4082Gly)
NM_182914.3(SYNE2):c.12307-2A>G
NM_182914.3(SYNE2):c.12356T>G (p.Val4119Gly) rs932903871
NM_182914.3(SYNE2):c.12413A>T (p.Gln4138Leu)
NM_182914.3(SYNE2):c.12485T>C (p.Ile4162Thr)
NM_182914.3(SYNE2):c.1248C>G (p.His416Gln)
NM_182914.3(SYNE2):c.124A>G (p.Asn42Asp)
NM_182914.3(SYNE2):c.1269A>G (p.Ile423Met)
NM_182914.3(SYNE2):c.1294-3C>T
NM_182914.3(SYNE2):c.12965T>C (p.Val4322Ala)
NM_182914.3(SYNE2):c.13159G>C (p.Val4387Leu) rs764515386
NM_182914.3(SYNE2):c.1338C>T (p.Thr446=)
NM_182914.3(SYNE2):c.13562T>C (p.Met4521Thr)
NM_182914.3(SYNE2):c.1388T>G (p.Leu463Trp)
NM_182914.3(SYNE2):c.13945C>T (p.Leu4649Phe)
NM_182914.3(SYNE2):c.14239A>C (p.Met4747Leu)
NM_182914.3(SYNE2):c.14257A>G (p.Ile4753Val) rs886042776
NM_182914.3(SYNE2):c.14292_14296del (p.Lys4764fs)
NM_182914.3(SYNE2):c.1460A>G (p.Tyr487Cys)
NM_182914.3(SYNE2):c.14797G>C (p.Asp4933His)
NM_182914.3(SYNE2):c.14986A>G (p.Lys4996Glu)
NM_182914.3(SYNE2):c.14993T>G (p.Val4998Gly) rs1463128504
NM_182914.3(SYNE2):c.15115A>G (p.Met5039Val)
NM_182914.3(SYNE2):c.15274T>C (p.Ser5092Pro)
NM_182914.3(SYNE2):c.15277C>G (p.Gln5093Glu)
NM_182914.3(SYNE2):c.15307G>C (p.Glu5103Gln)
NM_182914.3(SYNE2):c.15316A>G (p.Met5106Val) rs376851893
NM_182914.3(SYNE2):c.15763T>C (p.Phe5255Leu)
NM_182914.3(SYNE2):c.15779G>C (p.Ser5260Thr)
NM_182914.3(SYNE2):c.1595T>C (p.Leu532Pro)
NM_182914.3(SYNE2):c.16094+1G>A
NM_182914.3(SYNE2):c.16169A>G (p.Tyr5390Cys)
NM_182914.3(SYNE2):c.16302G>T (p.Glu5434Asp)
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del) rs751691446
NM_182914.3(SYNE2):c.16364G>T (p.Arg5455Leu)
NM_182914.3(SYNE2):c.16451T>C (p.Met5484Thr)
NM_182914.3(SYNE2):c.16595A>T (p.Asp5532Val)
NM_182914.3(SYNE2):c.16729C>T (p.Arg5577Trp)
NM_182914.3(SYNE2):c.16736C>T (p.Thr5579Met)
NM_182914.3(SYNE2):c.16922T>C (p.Val5641Ala)
NM_182914.3(SYNE2):c.16981A>T (p.Thr5661Ser)
NM_182914.3(SYNE2):c.1700T>C (p.Val567Ala)
NM_182914.3(SYNE2):c.17026A>G (p.Lys5676Glu)
NM_182914.3(SYNE2):c.17083G>A (p.Val5695Ile)
NM_182914.3(SYNE2):c.17150C>G (p.Thr5717Ser)
NM_182914.3(SYNE2):c.17189A>G (p.Glu5730Gly)
NM_182914.3(SYNE2):c.17592C>G (p.Asn5864Lys)
NM_182914.3(SYNE2):c.17618C>A (p.Ala5873Glu) rs563482043
NM_182914.3(SYNE2):c.17653A>G (p.Met5885Val)
NM_182914.3(SYNE2):c.17768A>G (p.Asn5923Ser)
NM_182914.3(SYNE2):c.17953A>G (p.Asn5985Asp)
NM_182914.3(SYNE2):c.18039-3T>C
NM_182914.3(SYNE2):c.18103C>A (p.Arg6035Ser)
NM_182914.3(SYNE2):c.1816A>C (p.Lys606Gln)
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr) rs182079744
NM_182914.3(SYNE2):c.18326C>T (p.Thr6109Ile) rs1248550076
NM_182914.3(SYNE2):c.18497A>T (p.Glu6166Val)
NM_182914.3(SYNE2):c.18601C>T (p.Arg6201Trp)
NM_182914.3(SYNE2):c.18614G>A (p.Arg6205Gln)
NM_182914.3(SYNE2):c.18661G>A (p.Glu6221Lys)
NM_182914.3(SYNE2):c.18796C>G (p.Leu6266Val)
NM_182914.3(SYNE2):c.18826G>A (p.Glu6276Lys)
NM_182914.3(SYNE2):c.18877A>G (p.Ile6293Val)
NM_182914.3(SYNE2):c.18922G>A (p.Glu6308Lys)
NM_182914.3(SYNE2):c.18941G>T (p.Ser6314Ile) rs548600640
NM_182914.3(SYNE2):c.18991C>T (p.Arg6331Cys)
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=) rs772092387
NM_182914.3(SYNE2):c.19336G>A (p.Val6446Ile)
NM_182914.3(SYNE2):c.19403-1G>C
NM_182914.3(SYNE2):c.19465C>T (p.His6489Tyr)
NM_182914.3(SYNE2):c.19568C>T (p.Thr6523Met)
NM_182914.3(SYNE2):c.19628G>T (p.Gly6543Val)
NM_182914.3(SYNE2):c.19802A>G (p.Lys6601Arg)
NM_182914.3(SYNE2):c.19861G>A (p.Glu6621Lys)
NM_182914.3(SYNE2):c.19933C>G (p.Gln6645Glu)
NM_182914.3(SYNE2):c.19946C>T (p.Pro6649Leu)
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala) rs140676416
NM_182914.3(SYNE2):c.20102C>T (p.Ala6701Val) rs769553105
NM_182914.3(SYNE2):c.20144C>T (p.Pro6715Leu)
NM_182914.3(SYNE2):c.20470-1G>T
NM_182914.3(SYNE2):c.20500G>A (p.Glu6834Lys)
NM_182914.3(SYNE2):c.20533C>T (p.Arg6845Trp)
NM_182914.3(SYNE2):c.20551C>T (p.Leu6851Phe) rs564532190
NM_182914.3(SYNE2):c.20570C>T (p.Ala6857Val)
NM_182914.3(SYNE2):c.20635G>C (p.Glu6879Gln)
NM_182914.3(SYNE2):c.20675G>A (p.Arg6892Gln) rs774785412
NM_182914.3(SYNE2):c.20711C>T (p.Pro6904Leu)
NM_182914.3(SYNE2):c.2119G>C (p.Glu707Gln)
NM_182914.3(SYNE2):c.2151+1G>T
NM_182914.3(SYNE2):c.2313+1G>A rs2096627723
NM_182914.3(SYNE2):c.2386C>G (p.Gln796Glu)
NM_182914.3(SYNE2):c.2429C>G (p.Thr810Ser)
NM_182914.3(SYNE2):c.2431G>A (p.Gly811Arg)
NM_182914.3(SYNE2):c.2472G>T (p.Gln824His) rs760909392
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly) rs200503488
NM_182914.3(SYNE2):c.2563A>G (p.Lys855Glu)
NM_182914.3(SYNE2):c.2591C>T (p.Ala864Val)
NM_182914.3(SYNE2):c.2596C>A (p.Gln866Lys)
NM_182914.3(SYNE2):c.2644A>G (p.Lys882Glu)
NM_182914.3(SYNE2):c.2647-2A>G
NM_182914.3(SYNE2):c.2650G>A (p.Ala884Thr)
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp) rs370800852
NM_182914.3(SYNE2):c.2950T>G (p.Ser984Ala)
NM_182914.3(SYNE2):c.3190C>T (p.Pro1064Ser)
NM_182914.3(SYNE2):c.3319G>T (p.Asp1107Tyr)
NM_182914.3(SYNE2):c.3334A>G (p.Ile1112Val)
NM_182914.3(SYNE2):c.3361A>G (p.Thr1121Ala)
NM_182914.3(SYNE2):c.3407G>T (p.Arg1136Met)
NM_182914.3(SYNE2):c.3416C>T (p.Ser1139Phe)
NM_182914.3(SYNE2):c.3550G>C (p.Val1184Leu)
NM_182914.3(SYNE2):c.359A>G (p.Asn120Ser)
NM_182914.3(SYNE2):c.361C>A (p.Pro121Thr)
NM_182914.3(SYNE2):c.3643G>A (p.Glu1215Lys)
NM_182914.3(SYNE2):c.3809A>G (p.Lys1270Arg)
NM_182914.3(SYNE2):c.3824G>A (p.Cys1275Tyr) rs1309435421
NM_182914.3(SYNE2):c.419T>G (p.Leu140Arg)
NM_182914.3(SYNE2):c.4278C>G (p.Asn1426Lys)
NM_182914.3(SYNE2):c.4396C>T (p.Arg1466Trp)
NM_182914.3(SYNE2):c.4457A>G (p.His1486Arg)
NM_182914.3(SYNE2):c.4597G>T (p.Val1533Phe)
NM_182914.3(SYNE2):c.4607T>C (p.Leu1536Pro)
NM_182914.3(SYNE2):c.4651A>G (p.Ile1551Val)
NM_182914.3(SYNE2):c.475G>T (p.Val159Phe) rs1323596481
NM_182914.3(SYNE2):c.4861A>C (p.Asn1621His) rs746284520
NM_182914.3(SYNE2):c.4864ATT[1] (p.Ile1623del) rs1430734342
NM_182914.3(SYNE2):c.4936G>C (p.Ala1646Pro)
NM_182914.3(SYNE2):c.4967A>C (p.Asn1656Thr)
NM_182914.3(SYNE2):c.5107A>G (p.Ile1703Val)
NM_182914.3(SYNE2):c.5240C>T (p.Thr1747Ile)
NM_182914.3(SYNE2):c.5503C>A (p.His1835Asn)
NM_182914.3(SYNE2):c.5894A>C (p.Lys1965Thr)
NM_182914.3(SYNE2):c.6153T>G (p.His2051Gln)
NM_182914.3(SYNE2):c.652G>A (p.Ala218Thr)
NM_182914.3(SYNE2):c.6553T>C (p.Tyr2185His)
NM_182914.3(SYNE2):c.6557A>C (p.Lys2186Thr)
NM_182914.3(SYNE2):c.6569A>G (p.Lys2190Arg)
NM_182914.3(SYNE2):c.6579A>T (p.Gln2193His) rs373963217
NM_182914.3(SYNE2):c.6658G>A (p.Glu2220Lys)
NM_182914.3(SYNE2):c.6728A>C (p.Asn2243Thr)
NM_182914.3(SYNE2):c.6766G>A (p.Val2256Ile)
NM_182914.3(SYNE2):c.6829G>C (p.Asp2277His)
NM_182914.3(SYNE2):c.6830A>T (p.Asp2277Val)
NM_182914.3(SYNE2):c.690G>C (p.Met230Ile) rs2096220312
NM_182914.3(SYNE2):c.6992A>G (p.Asp2331Gly)
NM_182914.3(SYNE2):c.7112G>T (p.Gly2371Val)
NM_182914.3(SYNE2):c.7166C>T (p.Ser2389Phe)
NM_182914.3(SYNE2):c.7768G>C (p.Asp2590His) rs1555452706
NM_182914.3(SYNE2):c.7821G>C (p.Trp2607Cys)
NM_182914.3(SYNE2):c.7858C>T (p.Gln2620Ter)
NM_182914.3(SYNE2):c.7880A>G (p.Glu2627Gly) rs1440652896
NM_182914.3(SYNE2):c.7943A>G (p.His2648Arg)
NM_182914.3(SYNE2):c.8067G>C (p.Gln2689His)
NM_182914.3(SYNE2):c.8080T>A (p.Trp2694Arg)
NM_182914.3(SYNE2):c.8097GAA[1] (p.Lys2700del)
NM_182914.3(SYNE2):c.8260A>G (p.Ile2754Val)
NM_182914.3(SYNE2):c.8308G>A (p.Val2770Met)
NM_182914.3(SYNE2):c.8372A>G (p.Asp2791Gly)
NM_182914.3(SYNE2):c.8405G>A (p.Ser2802Asn)
NM_182914.3(SYNE2):c.8513A>G (p.Asn2838Ser)
NM_182914.3(SYNE2):c.8621A>G (p.His2874Arg)
NM_182914.3(SYNE2):c.865C>T (p.Pro289Ser) rs1459614876
NM_182914.3(SYNE2):c.886C>A (p.Gln296Lys)
NM_182914.3(SYNE2):c.8960G>A (p.Arg2987Lys)
NM_182914.3(SYNE2):c.9085A>G (p.Lys3029Glu)
NM_182914.3(SYNE2):c.9189G>C (p.Lys3063Asn)
NM_182914.3(SYNE2):c.9328A>G (p.Thr3110Ala)
NM_182914.3(SYNE2):c.9345C>G (p.Phe3115Leu) rs768731460
NM_182914.3(SYNE2):c.9925C>T (p.His3309Tyr)
NM_182914.3(SYNE2):c.9926A>T (p.His3309Leu) rs8010699
NM_182914.3(SYNE2):c.9962C>G (p.Ser3321Cys)
NM_198271.5(LMOD3):c.1020_1023del (p.Thr341fs) rs778840325
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) rs727502799
NM_198271.5(LMOD3):c.1342C>T (p.Gln448Ter) rs2092391598
NM_198271.5(LMOD3):c.1368C>G (p.Asn456Lys)
NM_198271.5(LMOD3):c.1418C>A (p.Ser473Ter)
NM_198271.5(LMOD3):c.214G>A (p.Val72Ile)
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs) rs769824247
NM_213595.4(ISCU):c.314C>G (p.Ala105Gly)
NM_213595.4(ISCU):c.368_369del (p.Thr123fs)
NM_213595.4(ISCU):c.484G>T (p.Gly162Ter)

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