ClinVar Miner

List of variants studied for congenital myopathy by Natera, Inc.

Included ClinVar conditions (317):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1488
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg) rs6710212 0.97529
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His) rs6711382 0.81103
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=) rs6709886 0.62301
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_001164508.2(NEB):c.13628A>C (p.Lys4543Thr) rs200125713 0.20353
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_001164508.2(NEB):c.11077-4G>T rs878924060 0.11336
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.10205
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=) rs6717213 0.08304
NM_001164508.2(NEB):c.16450G>A (p.Ala5484Thr) rs536508687 0.08083
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435 0.07143
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_024120.5(NDUFAF5):c.849G>A (p.Ala283=) rs34901599 0.04132
NM_001164508.2(NEB):c.20598C>G (p.Gly6866=) rs16830192 0.04050
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=) rs13031275 0.03886
NM_001164508.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368 0.03610
NM_000252.3(MTM1):c.232-28C>T rs73620649 0.03576
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_001164508.2(NEB):c.21382T>C (p.Leu7128=) rs114218081 0.02752
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02379
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_001953.5(TYMP):c.204C>T (p.Gly68=) rs34375653 0.01755
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01691
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_001164508.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191 0.01369
NM_001164508.2(NEB):c.195G>A (p.Pro65=) rs79524813 0.01367
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=) rs61730772 0.01264
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=) rs34555492 0.01234
NM_001164508.2(NEB):c.3775-6T>C rs80232472 0.01222
NM_001164508.2(NEB):c.23511G>A (p.Thr7837=) rs35808744 0.01201
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236 0.01192
NM_001164508.2(NEB):c.8646C>T (p.Asp2882=) rs61730773 0.01142
NM_001164508.2(NEB):c.3147+5G>A rs74859201 0.01118
NM_001164508.2(NEB):c.5772C>T (p.Tyr1924=) rs77547727 0.01117
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601 0.01102
NM_001164508.2(NEB):c.5763+4C>T rs78916288 0.01075
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814 0.01071
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=) rs145252235 0.00972
NM_001164508.2(NEB):c.21519C>T (p.Ser7173=) rs16830170 0.00961
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164 0.00935
NM_001164508.2(NEB):c.8335A>G (p.Ile2779Val) rs114853127 0.00920
NM_001164508.2(NEB):c.11769T>C (p.Ile3923=) rs80320923 0.00914
NM_001164508.2(NEB):c.19311C>T (p.Ser6437=) rs16830216 0.00914
NM_001164508.2(NEB):c.10338T>C (p.Asn3446=) rs147569843 0.00870
NM_001164508.2(NEB):c.10344C>T (p.Asn3448=) rs145052299 0.00870
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=) rs140186806 0.00856
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00714
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949 0.00646
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796 0.00550
NM_001164508.2(NEB):c.5802C>T (p.Gly1934=) rs139963368 0.00547
NM_001164508.2(NEB):c.17304G>A (p.Leu5768=) rs35273905 0.00526
NM_001164508.2(NEB):c.17049G>T (p.Ala5683=) rs140688592 0.00517
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) rs139219896 0.00468
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=) rs149639365 0.00441
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_001164508.2(NEB):c.2640C>T (p.Arg880=) rs114959904 0.00433
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_001164508.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883 0.00426
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser) rs148341631 0.00406
NM_001164508.2(NEB):c.1981C>T (p.Leu661=) rs146460133 0.00395
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567 0.00393
NM_001164508.2(NEB):c.6166A>G (p.Arg2056Gly) rs115350357 0.00379
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643 0.00369
NM_001164508.2(NEB):c.1413C>T (p.Phe471=) rs112958786 0.00363
NM_000252.3(MTM1):c.232-54A>T rs143312552 0.00356
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001164508.2(NEB):c.22904G>A (p.Gly7635Glu) rs3732309 0.00351
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684 0.00348
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449 0.00346
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00336
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00333
NM_025215.6(PUS1):c.345C>T (p.Asp115=) rs145798848 0.00332
NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609 0.00327
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622 0.00323
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692 0.00320
NM_025215.6(PUS1):c.621G>A (p.Thr207=) rs142044204 0.00320
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_004553.6(NDUFS6):c.96C>A (p.Val32=) rs140619622 0.00311
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878 0.00292
NM_001164508.2(NEB):c.13081G>A (p.Glu4361Lys) rs202017360 0.00261
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654 0.00257
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) rs149378338 0.00233
NM_001164508.2(NEB):c.6615C>G (p.Arg2205=) rs200018782 0.00226
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_001164508.2(NEB):c.3348C>T (p.Asn1116=) rs149162847 0.00217
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_025215.6(PUS1):c.1197C>T (p.Phe399=) rs35461276 0.00193
NM_001164508.2(NEB):c.10452+9A>G rs117270796 0.00190
NM_001164508.2(NEB):c.11004G>A (p.Thr3668=) rs117018177 0.00190
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser) rs143602832 0.00177
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) rs570574111 0.00173
NM_001164508.2(NEB):c.23599A>C (p.Lys7867Gln) rs118191309 0.00171
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602 0.00162
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183 0.00158
NM_001164508.2(NEB):c.19377C>T (p.Asp6459=) rs187211085 0.00156
NM_001164508.2(NEB):c.16449C>T (p.Ser5483=) rs546992311 0.00148
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His) rs576918934 0.00147
NM_001164508.2(NEB):c.2318A>G (p.Tyr773Cys) rs77151072 0.00146
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=) rs190336010 0.00140
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_001164508.2(NEB):c.1206C>T (p.Cys402=) rs199695976 0.00134
NM_001164508.2(NEB):c.24874-8C>T rs200902944 0.00134
NM_025215.6(PUS1):c.545-7C>T rs201541270 0.00128
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_001164508.2(NEB):c.9072G>A (p.Ala3024=) rs369897667 0.00125
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_001164508.2(NEB):c.12640-4A>G rs549888246 0.00122
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001164508.2(NEB):c.17601G>A (p.Val5867=) rs58263509 0.00118
NM_001164508.2(NEB):c.8202C>T (p.Val2734=) rs144595998 0.00117
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=) rs6709752 0.00116
NM_001164508.2(NEB):c.469A>G (p.Ile157Val) rs188718613 0.00115
NM_001164508.2(NEB):c.177G>A (p.Gln59=) rs200990309 0.00112
NM_024120.5(NDUFAF5):c.190G>A (p.Glu64Lys) rs147117631 0.00111
NM_001164508.2(NEB):c.2283C>T (p.Ala761=) rs373946448 0.00109
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_001164508.2(NEB):c.13078C>G (p.Leu4360Val) rs761799512 0.00107
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021 0.00106
NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=) rs146052819 0.00106
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) rs150955045 0.00104
NM_001164508.2(NEB):c.8553G>A (p.Gly2851=) rs200624735 0.00101
NM_001164508.2(NEB):c.2603T>C (p.Leu868Pro) rs143123053 0.00083
NM_001164508.2(NEB):c.18783G>A (p.Gln6261=) rs148095660 0.00081
NM_001164508.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960 0.00079
NM_001164508.2(NEB):c.1258-7C>G rs371265681 0.00077
NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr) rs200112795 0.00077
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883 0.00076
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00075
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) rs201400523 0.00072
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728 0.00066
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg) rs138217855 0.00066
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln) rs200963111 0.00064
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg) rs34504204 0.00061
NM_025215.6(PUS1):c.1020C>T (p.Phe340=) rs202059921 0.00061
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=) rs186244044 0.00058
NM_001164508.2(NEB):c.8499G>A (p.Lys2833=) rs183998406 0.00058
NM_025215.6(PUS1):c.1047C>T (p.Asn349=) rs145061048 0.00057
NM_001953.5(TYMP):c.1295G>A (p.Arg432His) rs551975117 0.00056
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His) rs150874422 0.00055
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
NM_000252.3(MTM1):c.615G>A (p.Pro205=) rs144517020 0.00053
NM_001164508.2(NEB):c.984C>T (p.Thr328=) rs199969138 0.00052
NM_001164508.2(NEB):c.3468C>T (p.Val1156=) rs373258662 0.00051
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys) rs184516994 0.00050
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095 0.00049
NM_001164508.2(NEB):c.19315-10T>C rs201473873 0.00048
NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln) rs373587647 0.00048
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390 0.00047
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln) rs369153778 0.00046
NM_001164508.2(NEB):c.12905A>T (p.Asn4302Ile) rs886038429 0.00046
NM_001164508.2(NEB):c.23557-3C>G rs374499643 0.00044
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) rs199901350 0.00044
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207 0.00043
NM_001164508.2(NEB):c.5031+4T>C rs370999716 0.00041
NM_001953.5(TYMP):c.1189C>T (p.Leu397=) rs777564992 0.00041
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315 0.00039
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_025215.6(PUS1):c.821G>A (p.Arg274Gln) rs138561555 0.00039
NM_001164508.2(NEB):c.13175G>A (p.Arg4392His) rs772352938 0.00038
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys) rs201419564 0.00038
NM_025215.6(PUS1):c.987C>T (p.Pro329=) rs150880557 0.00038
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile) rs189609282 0.00037
NM_001953.5(TYMP):c.858G>A (p.Glu286=) rs372421189 0.00037
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val) rs532986882 0.00036
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) rs146837138 0.00036
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg) rs201714437 0.00035
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His) rs147159176 0.00034
NM_001164508.2(NEB):c.5712T>C (p.Pro1904=) rs35946547 0.00034
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu) rs185496567 0.00034
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile) rs368637389 0.00033
NM_001164508.2(NEB):c.18742C>T (p.Pro6248Ser) rs189541265 0.00032
NM_001164508.2(NEB):c.6704A>C (p.His2235Pro) rs372800812 0.00031
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00031
NM_001164508.2(NEB):c.12597G>A (p.Pro4199=) rs763783436 0.00030
NM_001953.5(TYMP):c.1159+5G>A rs748559929 0.00030
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_001164508.2(NEB):c.12492A>C (p.Pro4164=) rs1462106212 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514 0.00029
NM_001164508.2(NEB):c.21522T>C (p.Asp7174=) rs185169373 0.00029
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) rs370873040 0.00029
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374 0.00029
NM_004553.6(NDUFS6):c.257C>T (p.Ala86Val) rs192286856 0.00028
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320 0.00028
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=) rs372540293 0.00027
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly) rs183354017 0.00027
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp) rs202145313 0.00026
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183 0.00026
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu) rs149471462 0.00026
NM_001164508.2(NEB):c.17838G>A (p.Gln5946=) rs376199241 0.00025
NM_001164508.2(NEB):c.18948T>A (p.Asp6316Glu) rs370206339 0.00025
NM_001164508.2(NEB):c.19157A>G (p.Glu6386Gly) rs200056050 0.00025
NM_025215.6(PUS1):c.1065G>T (p.Pro355=) rs147555676 0.00025
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala) rs200304547 0.00024
NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu) rs202191938 0.00024
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191 0.00023
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946 0.00023
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_001164508.2(NEB):c.17845-5G>A rs373390654 0.00022
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566 0.00022
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn) rs147168910 0.00022
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile) rs189232206 0.00021
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr) rs191722579 0.00021
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys) rs202050860 0.00021
NM_001164508.2(NEB):c.9178A>G (p.Met3060Val) rs538524863 0.00021
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
NM_004553.6(NDUFS6):c.198C>T (p.Asn66=) rs140887831 0.00021
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu) rs368912483 0.00020
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286 0.00020
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met) rs201462794 0.00019
NM_001164508.2(NEB):c.25359A>C (p.Gln8453His) rs377748897 0.00019
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser) rs199903114 0.00019
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=) rs148794372 0.00019
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met) rs377375638 0.00019
NM_001164508.2(NEB):c.9866G>A (p.Gly3289Asp) rs371490023 0.00019
NM_001164508.2(NEB):c.10258C>T (p.Arg3420Cys) rs201596787 0.00018
NM_001164508.2(NEB):c.19550G>A (p.Arg6517His) rs149596493 0.00018
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys) rs115623365 0.00018
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu) rs199957886 0.00018
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser) rs376611641 0.00018
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro) rs183667452 0.00018
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735 0.00018
NM_024120.5(NDUFAF5):c.245G>A (p.Arg82His) rs376456360 0.00018
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys) rs770023115 0.00017
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys) rs200555425 0.00017
NM_001164508.2(NEB):c.6807+10T>C rs375723456 0.00017
NM_001164508.2(NEB):c.7778T>C (p.Phe2593Ser) rs370615288 0.00017
NM_025215.6(PUS1):c.1076C>T (p.Ala359Val) rs142072030 0.00017
NM_001164508.2(NEB):c.11221G>A (p.Gly3741Ser) rs375657086 0.00016
NM_001164508.2(NEB):c.19745C>T (p.Ala6582Val) rs375646776 0.00016
NM_001164508.2(NEB):c.20440C>T (p.Arg6814Cys) rs765806782 0.00016
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=) rs368887173 0.00016
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala) rs200269437 0.00016
NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp) rs200165006 0.00016
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=) rs375569766 0.00016
NM_001164508.2(NEB):c.3879+8G>A rs376511134 0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626 0.00016
NM_001164508.2(NEB):c.8071C>T (p.Arg2691Cys) rs202044707 0.00016
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=) rs368217121 0.00016
NM_001164508.2(NEB):c.9578A>G (p.Glu3193Gly) rs369985728 0.00016
NM_001953.5(TYMP):c.1242G>A (p.Pro414=) rs1013301590 0.00016
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His) rs199584268 0.00015
NM_001164508.2(NEB):c.20941G>A (p.Val6981Met) rs374961597 0.00015
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155 0.00015
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu) rs376609115 0.00015
NM_001164508.2(NEB):c.4305G>A (p.Val1435=) rs111241479 0.00015
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745 0.00014
NM_001164508.2(NEB):c.1187C>T (p.Ala396Val) rs369957704 0.00014
NM_001164508.2(NEB):c.11900A>G (p.Asn3967Ser) rs376194864 0.00014
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg) rs368150737 0.00014
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu) rs202211102 0.00014
NM_001164508.2(NEB):c.19358C>T (p.Thr6453Met) rs370810654 0.00014
NM_001164508.2(NEB):c.19378G>A (p.Asp6460Asn) rs562175196 0.00014
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu) rs201976154 0.00014
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 0.00014
NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr) rs200199681 0.00014
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg) rs371568550 0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001164508.2(NEB):c.17898G>A (p.Pro5966=) rs376655029 0.00013
NM_001164508.2(NEB):c.2639G>A (p.Arg880His) rs202026890 0.00013
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_001164508.2(NEB):c.642C>A (p.Asp214Glu) rs373133009 0.00013
NM_004553.6(NDUFS6):c.25C>T (p.Arg9Trp) rs376509886 0.00013
NM_001164508.2(NEB):c.10348C>T (p.Arg3450Cys) rs200462308 0.00012
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr) rs375294508 0.00012
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg) rs199594449 0.00012
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro) rs184723737 0.00012
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln) rs372804439 0.00012
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu) rs886038447 0.00012
NM_001164508.2(NEB):c.25055C>T (p.Thr8352Ile) rs372762302 0.00012
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu) rs201473194 0.00012
NM_001164508.2(NEB):c.780A>G (p.Pro260=) rs80255720 0.00012
NM_001164508.2(NEB):c.7896A>G (p.Thr2632=) rs377015178 0.00012
NM_001164508.2(NEB):c.853A>G (p.Ile285Val) rs773114380 0.00012
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) rs587783806 0.00011
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) rs782217375 0.00011
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609 0.00011
NM_001164508.2(NEB):c.12247C>T (p.Arg4083Cys) rs368383341 0.00011
NM_001164508.2(NEB):c.12298C>G (p.Gln4100Glu) rs373829936 0.00011
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021 0.00011
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp) rs546869744 0.00011
NM_001164508.2(NEB):c.17518G>A (p.Ala5840Thr) rs376277385 0.00011
NM_001164508.2(NEB):c.18488C>T (p.Ala6163Val) rs201529683 0.00011
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His) rs200195063 0.00011
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn) rs144168709 0.00011
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558 0.00011
NM_001164508.2(NEB):c.20212G>A (p.Asp6738Asn) rs201337732 0.00011
NM_001164508.2(NEB):c.21056G>A (p.Arg7019His) rs377443184 0.00011
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu) rs202137113 0.00011
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val) rs551649582 0.00011
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp) rs373551215 0.00011
NM_001164508.2(NEB):c.2773A>G (p.Ser925Gly) rs928041091 0.00011
NM_001164508.2(NEB):c.5554A>G (p.Met1852Val) rs370172690 0.00011
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys) rs201758329 0.00011
NM_001164508.2(NEB):c.6807+5A>G rs746481799 0.00011
NM_001164508.2(NEB):c.8647G>A (p.Val2883Ile) rs369283016 0.00011
NM_001164508.2(NEB):c.9620G>A (p.Arg3207His) rs111841612 0.00011
NM_001953.5(TYMP):c.437G>A (p.Arg146His) rs188802138 0.00011
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val) rs755222875 0.00011
NM_024120.5(NDUFAF5):c.9G>A (p.Arg3=) rs201860210 0.00011
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_001164508.2(NEB):c.10141G>A (p.Asp3381Asn) rs374760449 0.00010
NM_001164508.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104 0.00010
NM_001164508.2(NEB):c.1182A>C (p.Thr394=) rs186233985 0.00010
NM_001164508.2(NEB):c.13G>A (p.Glu5Lys) rs374390581 0.00010
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His) rs773239926 0.00010
NM_001164508.2(NEB):c.18224A>C (p.His6075Pro) rs768813228 0.00010
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys) rs374606967 0.00010
NM_001164508.2(NEB):c.19406G>A (p.Arg6469Gln) rs556624010 0.00010
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644 0.00010
NM_001164508.2(NEB):c.21525C>T (p.Ile7175=) rs369183371 0.00010
NM_001164508.2(NEB):c.23055G>A (p.Gly7685=) rs563896790 0.00010
NM_001164508.2(NEB):c.24873G>A (p.Thr8291=) rs779321695 0.00010
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile) rs117861109 0.00010
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val) rs372217127 0.00010
NM_001164508.2(NEB):c.2630A>G (p.Gln877Arg) rs373892420 0.00010
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534 0.00010
NM_001164508.2(NEB):c.4938C>T (p.Asn1646=) rs765208384 0.00010
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr) rs751494785 0.00010
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=) rs540542570 0.00010
NM_001164508.2(NEB):c.8019C>T (p.Leu2673=) rs755883171 0.00010
NM_001164508.2(NEB):c.9271G>A (p.Asp3091Asn) rs764110936 0.00010
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_025215.6(PUS1):c.111C>T (p.Pro37=) rs543944505 0.00010
NM_001164508.2(NEB):c.10026G>C (p.Lys3342Asn) rs117636679 0.00009
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958 0.00009
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156 0.00009
NM_001164508.2(NEB):c.1152+5G>A rs111404077 0.00009
NM_001164508.2(NEB):c.11540C>A (p.Thr3847Asn) rs766876980 0.00009
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=) rs369429046 0.00009
NM_001164508.2(NEB):c.12200T>C (p.Ile4067Thr) rs746008098 0.00009
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=) rs367638234 0.00009
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023 0.00009
NM_001164508.2(NEB):c.17215G>A (p.Asp5739Asn) rs200672818 0.00009
NM_001164508.2(NEB):c.17844+7C>T rs373259828 0.00009
NM_001164508.2(NEB):c.18278A>T (p.Asn6093Ile) rs370695020 0.00009
NM_001164508.2(NEB):c.18866G>A (p.Arg6289Gln) rs575958060 0.00009
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys) rs745791097 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001164508.2(NEB):c.23017-3T>C rs111314898 0.00009
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00009
NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser) rs369602540 0.00009
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys) rs372117694 0.00009
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His) rs139333406 0.00009
NM_001164508.2(NEB):c.403G>A (p.Val135Ile) rs373729655 0.00009
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu) rs78420579 0.00009
NM_001164508.2(NEB):c.7914C>T (p.Ser2638=) rs373353657 0.00009
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys) rs771598053 0.00009
NM_001164508.2(NEB):c.9345C>T (p.His3115=) rs367739638 0.00009
NM_001164508.2(NEB):c.9878G>C (p.Gly3293Ala) rs199890164 0.00009
NM_025215.6(PUS1):c.1166A>G (p.Gln389Arg) rs753674809 0.00009
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_025215.6(PUS1):c.904G>A (p.Val302Met) rs148057665 0.00009
NM_001164507.2(NEB):c.21396C>T (p.Thr7132=) rs759637718 0.00008
NM_001164508.2(NEB):c.10196T>C (p.Ile3399Thr) rs377734027 0.00008
NM_001164508.2(NEB):c.12511G>A (p.Ala4171Thr) rs1420479305 0.00008
NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr) rs577939684 0.00008
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr) rs202111641 0.00008
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val) rs541672313 0.00008
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser) rs751724804 0.00008
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp) rs200559481 0.00008
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403 0.00008
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala) rs182207224 0.00008
NM_001164508.2(NEB):c.4431T>C (p.Asp1477=) rs140558263 0.00008
NM_001164508.2(NEB):c.8039G>A (p.Arg2680Gln) rs201746137 0.00008
NM_001164508.2(NEB):c.8356A>G (p.Arg2786Gly) rs201747395 0.00008
NM_001164508.2(NEB):c.9373G>A (p.Asp3125Asn) rs375811851 0.00008
NM_001164508.2(NEB):c.9619-9C>T rs778009768 0.00008
NM_001164508.2(NEB):c.10005G>A (p.Met3335Ile) rs375830667 0.00007
NM_001164508.2(NEB):c.105G>A (p.Thr35=) rs368075131 0.00007
NM_001164508.2(NEB):c.11034G>A (p.Pro3678=) rs528974814 0.00007
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val) rs199551865 0.00007
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328 0.00007
NM_001164508.2(NEB):c.16875C>T (p.Val5625=) rs757882235 0.00007
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys) rs547231033 0.00007
NM_001164508.2(NEB):c.19732-8C>T rs137934821 0.00007
NM_001164508.2(NEB):c.22004C>T (p.Thr7335Met) rs767584361 0.00007
NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr) rs536677256 0.00007
NM_001164508.2(NEB):c.368G>A (p.Arg123His) rs546250852 0.00007
NM_001164508.2(NEB):c.4978C>A (p.Pro1660Thr) rs776231831 0.00007
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys) rs956309067 0.00007
NM_001164508.2(NEB):c.6482G>A (p.Arg2161His) rs373778424 0.00007
NM_001164508.2(NEB):c.9146T>C (p.Ile3049Thr) rs776759120 0.00007
NM_001953.5(TYMP):c.1185G>A (p.Leu395=) rs748898877 0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_004553.6(NDUFS6):c.229G>A (p.Val77Met) rs187737486 0.00007
NM_000252.3(MTM1):c.1455T>C (p.Ala485=) rs141358705 0.00006
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr) rs148195763 0.00006
NM_000252.3(MTM1):c.481G>A (p.Val161Met) rs782744530 0.00006
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984 0.00006
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=) rs727504033 0.00006
NM_001164508.2(NEB):c.10419G>A (p.Met3473Ile) rs368842783 0.00006
NM_001164508.2(NEB):c.10821C>T (p.Pro3607=) rs375814899 0.00006
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
NM_001164508.2(NEB):c.17118C>T (p.Asp5706=) rs769476760 0.00006
NM_001164508.2(NEB):c.17628C>T (p.Leu5876=) rs377183242 0.00006
NM_001164508.2(NEB):c.18746A>G (p.Asn6249Ser) rs550191566 0.00006
NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg) rs757621444 0.00006
NM_001164508.2(NEB):c.19477G>A (p.Val6493Met) rs1233717326 0.00006
NM_001164508.2(NEB):c.19576G>A (p.Asp6526Asn) rs201731351 0.00006
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=) rs201515651 0.00006
NM_001164508.2(NEB):c.20127C>T (p.His6709=) rs368328496 0.00006
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile) rs775553284 0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His) rs755370356 0.00006
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His) rs773584363 0.00006
NM_001164508.2(NEB):c.21337A>G (p.Met7113Val) rs750039342 0.00006
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala) rs754959175 0.00006
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg) rs201548700 0.00006
NM_001164508.2(NEB):c.22832G>A (p.Arg7611Gln) rs766072117 0.00006
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr) rs374941096 0.00006
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His) rs372699411 0.00006
NM_001164508.2(NEB):c.2354A>G (p.His785Arg) rs370296542 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001164508.2(NEB):c.2415T>C (p.Asp805=) rs566989836 0.00006
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile) rs758996758 0.00006
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=) rs754365974 0.00006
NM_001164508.2(NEB):c.25368G>A (p.Thr8456=) rs200083849 0.00006
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_001164508.2(NEB):c.3520G>A (p.Ala1174Thr) rs756135837 0.00006
NM_001164508.2(NEB):c.4103G>A (p.Arg1368His) rs201984572 0.00006
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749 0.00006
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu) rs370000978 0.00006
NM_001164508.2(NEB):c.5410G>A (p.Ala1804Thr) rs369275207 0.00006
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223 0.00006
NM_001164508.2(NEB):c.6119A>G (p.Tyr2040Cys) rs756926807 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001164508.2(NEB):c.7696C>T (p.Arg2566Trp) rs368232288 0.00006
NM_001164508.2(NEB):c.78+6G>A rs376085885 0.00006
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg) rs201119402 0.00006
NM_001164508.2(NEB):c.9055G>A (p.Ala3019Thr) rs370738668 0.00006
NM_001164508.2(NEB):c.9468T>C (p.Ile3156=) rs751747575 0.00006
NM_001164508.2(NEB):c.9529C>T (p.Arg3177Cys) rs758363933 0.00006
NM_001164508.2(NEB):c.9883C>T (p.Arg3295Trp) rs750990726 0.00006
NM_004553.6(NDUFS6):c.336C>T (p.Cys112=) rs149406977 0.00006
NM_004553.6(NDUFS6):c.9G>A (p.Ala3=) rs765884582 0.00006
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919 0.00006
NM_025215.6(PUS1):c.972C>T (p.Asp324=) rs200065515 0.00006
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser) rs587783785 0.00005
NM_000252.3(MTM1):c.1793A>G (p.His598Arg) rs201373390 0.00005
NM_000252.3(MTM1):c.546T>C (p.His182=) rs782217349 0.00005
NM_000252.3(MTM1):c.620G>A (p.Arg207His) rs187357952 0.00005
NM_001164508.2(NEB):c.10075G>A (p.Glu3359Lys) rs374359052 0.00005
NM_001164508.2(NEB):c.10463G>A (p.Arg3488His) rs371605774 0.00005
NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu) rs573693040 0.00005
NM_001164508.2(NEB):c.10988G>A (p.Arg3663His) rs550715282 0.00005
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=) rs199789085 0.00005
NM_001164508.2(NEB):c.11182-8T>A rs183088493 0.00005
NM_001164508.2(NEB):c.11712G>A (p.Lys3904=) rs767231395 0.00005
NM_001164508.2(NEB):c.12596C>T (p.Pro4199Leu) rs1365594299 0.00005
NM_001164508.2(NEB):c.12769C>T (p.Arg4257Cys) rs1376744526 0.00005
NM_001164508.2(NEB):c.13044C>T (p.Tyr4348=) rs1167279039 0.00005
NM_001164508.2(NEB):c.13059+4C>T rs1253831275 0.00005
NM_001164508.2(NEB):c.1675-4C>G rs369915027 0.00005
NM_001164508.2(NEB):c.17024G>A (p.Arg5675His) rs373850451 0.00005
NM_001164508.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle) rs765184893 0.00005
NM_001164508.2(NEB):c.17832C>T (p.Asp5944=) rs544453966 0.00005
NM_001164508.2(NEB):c.17900C>T (p.Thr5967Met) rs778982089 0.00005
NM_001164508.2(NEB):c.18694-3T>C rs370200484 0.00005
NM_001164508.2(NEB):c.19899C>T (p.Thr6633=) rs370742146 0.00005
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala) rs371704528 0.00005
NM_001164508.2(NEB):c.22131C>G (p.His7377Gln) rs777069125 0.00005
NM_001164508.2(NEB):c.2249C>T (p.Thr750Met) rs757505325 0.00005
NM_001164508.2(NEB):c.23555C>T (p.Ser7852Leu) rs200454939 0.00005
NM_001164508.2(NEB):c.24044G>A (p.Gly8015Glu) rs772083580 0.00005
NM_001164508.2(NEB):c.24820T>C (p.Leu8274=) rs372203426 0.00005
NM_001164508.2(NEB):c.252C>T (p.Pro84=) rs201735545 0.00005
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr) rs753428817 0.00005
NM_001164508.2(NEB):c.2739C>T (p.Ser913=) rs185674525 0.00005
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile) rs201541240 0.00005
NM_001164508.2(NEB):c.4612G>C (p.Ala1538Pro) rs781263453 0.00005
NM_001164508.2(NEB):c.6614G>A (p.Arg2205His) rs752349680 0.00005
NM_001164508.2(NEB):c.7185C>T (p.Asn2395=) rs775336786 0.00005
NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn) rs781745506 0.00005
NM_001164508.2(NEB):c.863A>G (p.Lys288Arg) rs202035863 0.00005
NM_001164508.2(NEB):c.9768C>T (p.Tyr3256=) rs747458739 0.00005
NM_001953.5(TYMP):c.495T>C (p.Asn165=) rs372889443 0.00005
NM_001953.5(TYMP):c.516+9C>T rs201884709 0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_004553.6(NDUFS6):c.117C>G (p.Val39=) rs556405335 0.00005
NM_024120.5(NDUFAF5):c.1020G>A (p.Pro340=) rs745871040 0.00005
NM_024120.5(NDUFAF5):c.189C>G (p.Pro63=) rs143178200 0.00005
NM_025215.6(PUS1):c.564C>T (p.Gly188=) rs369250859 0.00005
NM_000252.3(MTM1):c.1383A>G (p.Gln461=) rs782410861 0.00004
NM_000252.3(MTM1):c.1695C>T (p.Asp565=) rs140744506 0.00004
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) rs782640338 0.00004
NM_000252.3(MTM1):c.66G>A (p.Thr22=) rs781793926 0.00004
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp) rs186686151 0.00004
NM_001164508.2(NEB):c.10074C>T (p.His3358=) rs896373241 0.00004
NM_001164508.2(NEB):c.10092C>T (p.Pro3364=) rs768708852 0.00004
NM_001164508.2(NEB):c.1015G>A (p.Ala339Thr) rs762993577 0.00004
NM_001164508.2(NEB):c.10268C>T (p.Pro3423Leu) rs753198978 0.00004
NM_001164508.2(NEB):c.10986C>T (p.Tyr3662=) rs373365702 0.00004
NM_001164508.2(NEB):c.11005C>A (p.Leu3669Met) rs775362248 0.00004
NM_001164508.2(NEB):c.11697C>A (p.Ile3899=) rs755871388 0.00004
NM_001164508.2(NEB):c.12537A>G (p.Lys4179=) rs753569565 0.00004
NM_001164508.2(NEB):c.12790A>G (p.Met4264Val) rs1363996930 0.00004
NM_001164508.2(NEB):c.1386C>T (p.Tyr462=) rs376911383 0.00004
NM_001164508.2(NEB):c.16790C>G (p.Ala5597Gly) rs777969701 0.00004
NM_001164508.2(NEB):c.17048C>T (p.Ala5683Val) rs761829162 0.00004
NM_001164508.2(NEB):c.17183A>T (p.Asp5728Val) rs756098317 0.00004
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831 0.00004
NM_001164508.2(NEB):c.17845-6C>T rs376370460 0.00004
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn) rs377076154 0.00004
NM_001164508.2(NEB):c.18885G>A (p.Leu6295=) rs141925015 0.00004
NM_001164508.2(NEB):c.19110T>C (p.Tyr6370=) rs771969348 0.00004
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys) rs368240939 0.00004
NM_001164508.2(NEB):c.19430G>A (p.Arg6477His) rs762108795 0.00004
NM_001164508.2(NEB):c.19476C>T (p.Ile6492=) rs113068669 0.00004
NM_001164508.2(NEB):c.19989A>T (p.Arg6663Ser) rs755153044 0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln) rs781250495 0.00004
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys) rs776334631 0.00004
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro) rs767873861 0.00004
NM_001164508.2(NEB):c.20577+6G>A rs775513148 0.00004
NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu) rs376157878 0.00004
NM_001164508.2(NEB):c.20940G>A (p.Thr6980=) rs369611234 0.00004
NM_001164508.2(NEB):c.20945A>T (p.Lys6982Ile) rs776012642 0.00004
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly) rs747282707 0.00004
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile) rs1396168176 0.00004
NM_001164508.2(NEB):c.22264C>A (p.Gln7422Lys) rs369642754 0.00004
NM_001164508.2(NEB):c.22349C>T (p.Thr7450Ile) rs575499014 0.00004
NM_001164508.2(NEB):c.23346+5G>A rs778663301 0.00004
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=) rs770713773 0.00004
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His) rs369514998 0.00004
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys) rs758166991 0.00004
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn) rs760905651 0.00004
NM_001164508.2(NEB):c.23928G>A (p.Ser7976=) rs558657964 0.00004
NM_001164508.2(NEB):c.24485C>T (p.Ser8162Leu) rs541908352 0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His) rs201291446 0.00004
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu) rs746031384 0.00004
NM_001164508.2(NEB):c.24842G>A (p.Arg8281Gln) rs770024830 0.00004
NM_001164508.2(NEB):c.25009G>A (p.Val8337Ile) rs377336846 0.00004
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His) rs778972474 0.00004
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His) rs796797375 0.00004
NM_001164508.2(NEB):c.25130G>A (p.Arg8377Gln) rs369174368 0.00004
NM_001164508.2(NEB):c.25239A>G (p.Glu8413=) rs576696191 0.00004
NM_001164508.2(NEB):c.25240G>A (p.Ala8414Thr) rs563173814 0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_001164508.2(NEB):c.25415G>A (p.Arg8472His) rs368346105 0.00004
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln) rs368642083 0.00004
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val) rs370976402 0.00004
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile) rs767493706 0.00004
NM_001164508.2(NEB):c.4119C>G (p.Asn1373Lys) rs377653217 0.00004
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met) rs372694084 0.00004
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys) rs771779312 0.00004
NM_001164508.2(NEB):c.4414T>C (p.Tyr1472His) rs748121656 0.00004
NM_001164508.2(NEB):c.4593C>T (p.Asn1531=) rs373328073 0.00004
NM_001164508.2(NEB):c.47A>T (p.Glu16Val) rs748679499 0.00004
NM_001164508.2(NEB):c.491C>T (p.Ser164Leu) rs747225286 0.00004
NM_001164508.2(NEB):c.5095C>G (p.Leu1699Val) rs1000847538 0.00004
NM_001164508.2(NEB):c.5174T>C (p.Phe1725Ser) rs368270996 0.00004
NM_001164508.2(NEB):c.5229C>T (p.Asn1743=) rs769446481 0.00004
NM_001164508.2(NEB):c.5452-4A>G rs376623225 0.00004
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg) rs758655350 0.00004
NM_001164508.2(NEB):c.6011T>C (p.Val2004Ala) rs764064217 0.00004
NM_001164508.2(NEB):c.6075+3A>C rs986325764 0.00004
NM_001164508.2(NEB):c.7134C>T (p.Asp2378=) rs752098313 0.00004
NM_001164508.2(NEB):c.7387A>T (p.Met2463Leu) rs777231395 0.00004
NM_001164508.2(NEB):c.7677C>T (p.Leu2559=) rs371565168 0.00004
NM_001164508.2(NEB):c.7864G>A (p.Val2622Met) rs905660353 0.00004
NM_001164508.2(NEB):c.7906G>A (p.Asp2636Asn) rs760643814 0.00004
NM_001164508.2(NEB):c.8104C>T (p.Leu2702Phe) rs372248515 0.00004
NM_001164508.2(NEB):c.8265+3A>T rs374475460 0.00004
NM_001164508.2(NEB):c.8635G>A (p.Asp2879Asn) rs767512294 0.00004
NM_001164508.2(NEB):c.8683G>A (p.Asp2895Asn) rs779416595 0.00004
NM_001164508.2(NEB):c.8834T>C (p.Val2945Ala) rs748120166 0.00004
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg) rs760903716 0.00004
NM_001164508.2(NEB):c.9112A>G (p.Lys3038Glu) rs780293943 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_001953.5(TYMP):c.1301-9G>A rs548524392 0.00004
NM_001953.5(TYMP):c.177C>T (p.Ala59=) rs137930991 0.00004
NM_001953.5(TYMP):c.215-1G>C rs767245071 0.00004
NM_001953.5(TYMP):c.647-9C>G rs549324764 0.00004
NM_024120.5(NDUFAF5):c.130C>T (p.Leu44=) rs768309175 0.00004
NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile) rs572478240 0.00004
NM_025215.6(PUS1):c.1134C>T (p.Ile378=) rs570364615 0.00004
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428 0.00004
NM_000252.3(MTM1):c.508G>C (p.Val170Leu) rs782274835 0.00003
NM_001164508.2(NEB):c.10029G>C (p.Lys3343Asn) rs183321773 0.00003
NM_001164508.2(NEB):c.10127A>G (p.Tyr3376Cys) rs754298562 0.00003
NM_001164508.2(NEB):c.10231G>A (p.Ala3411Thr) rs727504034 0.00003
NM_001164508.2(NEB):c.104C>T (p.Thr35Met) rs749153659 0.00003
NM_001164508.2(NEB):c.10847G>A (p.Arg3616Gln) rs774454536 0.00003
NM_001164508.2(NEB):c.10860C>A (p.Asp3620Glu) rs748243107 0.00003
NM_001164508.2(NEB):c.10872C>T (p.Asp3624=) rs781328083 0.00003
NM_001164508.2(NEB):c.10913G>T (p.Gly3638Val) rs370161504 0.00003
NM_001164508.2(NEB):c.10925T>C (p.Ile3642Thr) rs201614105 0.00003
NM_001164508.2(NEB):c.11234G>T (p.Arg3745Leu) rs765379397 0.00003
NM_001164508.2(NEB):c.11570A>G (p.Gln3857Arg) rs760525587 0.00003
NM_001164508.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717 0.00003
NM_001164508.2(NEB):c.11671G>A (p.Glu3891Lys) rs753450456 0.00003
NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly) rs1015014078 0.00003
NM_001164508.2(NEB):c.11806-7C>A rs779713133 0.00003
NM_001164508.2(NEB):c.12010G>A (p.Ala4004Thr) rs750705899 0.00003
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His) rs376019368 0.00003
NM_001164508.2(NEB):c.12288C>T (p.Asn4096=) rs755521679 0.00003
NM_001164508.2(NEB):c.1230T>C (p.Asp410=) rs78892743 0.00003
NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys) rs756162358 0.00003
NM_001164508.2(NEB):c.12666C>T (p.Asp4222=) rs1310326732 0.00003
NM_001164508.2(NEB):c.12747+4C>T rs1436792470 0.00003
NM_001164508.2(NEB):c.1339A>G (p.Met447Val) rs774284999 0.00003
NM_001164508.2(NEB):c.16823C>T (p.Thr5608Met) rs200952733 0.00003
NM_001164508.2(NEB):c.16954A>G (p.Ile5652Val) rs767425744 0.00003
NM_001164508.2(NEB):c.17101A>G (p.Arg5701Gly) rs1332674015 0.00003
NM_001164508.2(NEB):c.17129A>G (p.Lys5710Arg) rs200501968 0.00003
NM_001164508.2(NEB):c.17677A>G (p.Thr5893Ala) rs762095177 0.00003
NM_001164508.2(NEB):c.18074G>A (p.Arg6025His) rs751957350 0.00003
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001164508.2(NEB):c.18693+5G>A rs377482159 0.00003
NM_001164508.2(NEB):c.19082G>A (p.Ser6361Asn) rs768390701 0.00003
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His) rs185999504 0.00003
NM_001164508.2(NEB):c.19801G>A (p.Val6601Met) rs553079055 0.00003
NM_001164508.2(NEB):c.19836C>T (p.Asp6612=) rs371194689 0.00003
NM_001164508.2(NEB):c.20154C>T (p.Ser6718=) rs753253128 0.00003
NM_001164508.2(NEB):c.20227C>T (p.Arg6743Cys) rs762552898 0.00003
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val) rs370764959 0.00003
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His) rs781020561 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys) rs755165133 0.00003
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys) rs200826420 0.00003
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg) rs200250294 0.00003
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=) rs539800267 0.00003
NM_001164508.2(NEB):c.22433G>A (p.Arg7478His) rs767207985 0.00003
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln) rs766321668 0.00003
NM_001164508.2(NEB):c.23189A>G (p.Asn7730Ser) rs775756899 0.00003
NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu) rs750689059 0.00003
NM_001164508.2(NEB):c.23425C>T (p.Arg7809Trp) rs762220487 0.00003
NM_001164508.2(NEB):c.24275A>G (p.Lys8092Arg) rs200761405 0.00003
NM_001164508.2(NEB):c.24299C>T (p.Ser8100Leu) rs759261311 0.00003
NM_001164508.2(NEB):c.24350C>T (p.Pro8117Leu) rs541150975 0.00003
NM_001164508.2(NEB):c.24649C>T (p.Arg8217Cys) rs542275170 0.00003
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu) rs571935637 0.00003
NM_001164508.2(NEB):c.24812C>T (p.Ala8271Val) rs749977606 0.00003
NM_001164508.2(NEB):c.24999G>C (p.Gln8333His) rs774663967 0.00003
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys) rs371600800 0.00003
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln) rs749034995 0.00003
NM_001164508.2(NEB):c.25184G>A (p.Arg8395Gln) rs779983347 0.00003
NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr) rs775823432 0.00003
NM_001164508.2(NEB):c.3246G>A (p.Ala1082=) rs372664114 0.00003
NM_001164508.2(NEB):c.339C>T (p.Tyr113=) rs546510007 0.00003
NM_001164508.2(NEB):c.3567T>A (p.Asp1189Glu) rs781515499 0.00003
NM_001164508.2(NEB):c.3640G>A (p.Glu1214Lys) rs764769462 0.00003
NM_001164508.2(NEB):c.3658G>A (p.Gly1220Ser) rs1320792762 0.00003
NM_001164508.2(NEB):c.4204A>G (p.Asn1402Asp) rs1219268531 0.00003
NM_001164508.2(NEB):c.4341C>T (p.Ile1447=) rs576286059 0.00003
NM_001164508.2(NEB):c.448G>A (p.Val150Ile) rs376288418 0.00003
NM_001164508.2(NEB):c.5121A>G (p.Ala1707=) rs371962475 0.00003
NM_001164508.2(NEB):c.5182G>A (p.Ala1728Thr) rs371639863 0.00003
NM_001164508.2(NEB):c.5623A>G (p.Met1875Val) rs201940342 0.00003
NM_001164508.2(NEB):c.5671G>A (p.Ala1891Thr) rs1553484895 0.00003
NM_001164508.2(NEB):c.5828T>C (p.Leu1943Pro) rs531692437 0.00003
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val) rs200649387 0.00003
NM_001164508.2(NEB):c.6067A>G (p.Met2023Val) rs779481792 0.00003
NM_001164508.2(NEB):c.6244G>A (p.Glu2082Lys) rs372667149 0.00003
NM_001164508.2(NEB):c.6325A>G (p.Thr2109Ala) rs578023308 0.00003
NM_001164508.2(NEB):c.6400A>G (p.Asn2134Asp) rs751935179 0.00003
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600 0.00003
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384 0.00003
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=) rs371570995 0.00003
NM_001164508.2(NEB):c.7627C>T (p.Arg2543Trp) rs368148074 0.00003
NM_001164508.2(NEB):c.7808C>T (p.Pro2603Leu) rs1259492469 0.00003
NM_001164508.2(NEB):c.8738T>C (p.Ile2913Thr) rs368373064 0.00003
NM_001164508.2(NEB):c.8873C>T (p.Ala2958Val) rs768058972 0.00003
NM_001164508.2(NEB):c.9154C>T (p.Arg3052Trp) rs375216659 0.00003
NM_001164508.2(NEB):c.9473C>G (p.Ser3158Cys) rs377606986 0.00003
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702 0.00003
NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn) rs780275367 0.00003
NM_001953.5(TYMP):c.1087G>A (p.Gly363Arg) rs863224253 0.00003
NM_001953.5(TYMP):c.586G>A (p.Gly196Arg) rs367723039 0.00003
NM_001953.5(TYMP):c.683C>G (p.Ser228Cys) rs763471000 0.00003
NM_004553.6(NDUFS6):c.102G>A (p.Pro34=) rs763463147 0.00003
NM_024120.5(NDUFAF5):c.750A>G (p.Gly250=) rs767277509 0.00003
NM_025215.6(PUS1):c.75-5C>T rs1363622622 0.00003
NM_025215.6(PUS1):c.789C>G (p.Ile263Met) rs755760215 0.00003
NM_000252.3(MTM1):c.1692C>T (p.Arg564=) rs1557415136 0.00002
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331 0.00002
NM_000252.3(MTM1):c.175A>G (p.Ile59Val) rs782451760 0.00002
NM_000252.3(MTM1):c.233A>T (p.Asp78Val) rs782215492 0.00002
NM_000252.3(MTM1):c.297G>A (p.Ala99=) rs781784303 0.00002
NM_000252.3(MTM1):c.528+7T>C rs782460237 0.00002
NM_000252.3(MTM1):c.741C>T (p.Val247=) rs374360983 0.00002
NM_001164507.2(NEB):c.21346G>A (p.Asp7116Asn) rs372827767 0.00002
NM_001164507.2(NEB):c.21348T>A (p.Asp7116Glu) rs199934793 0.00002
NM_001164508.2(NEB):c.10082C>T (p.Thr3361Met) rs745706462 0.00002
NM_001164508.2(NEB):c.10452+5G>A rs370685957 0.00002
NM_001164508.2(NEB):c.10471A>G (p.Met3491Val) rs761174573 0.00002
NM_001164508.2(NEB):c.10544G>A (p.Arg3515Gln) rs748799656 0.00002
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu) rs551261559 0.00002
NM_001164508.2(NEB):c.11457G>A (p.Val3819=) rs780152095 0.00002
NM_001164508.2(NEB):c.11575C>T (p.Arg3859Trp) rs562669490 0.00002
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.11716C>T (p.Arg3906Cys) rs759419548 0.00002
NM_001164508.2(NEB):c.11754C>T (p.Thr3918=) rs368230090 0.00002
NM_001164508.2(NEB):c.1213C>A (p.Pro405Thr) rs1008850251 0.00002
NM_001164508.2(NEB):c.12278C>T (p.Pro4093Leu) rs749270501 0.00002
NM_001164508.2(NEB):c.12732A>G (p.Arg4244=) rs1396568234 0.00002
NM_001164508.2(NEB):c.12947G>A (p.Cys4316Tyr) rs1192654922 0.00002
NM_001164508.2(NEB):c.12961A>G (p.Ser4321Gly) rs1447644538 0.00002
NM_001164508.2(NEB):c.12976C>T (p.Arg4326Cys) rs1270122330 0.00002
NM_001164508.2(NEB):c.13018G>A (p.Asp4340Asn) rs1462818722 0.00002
NM_001164508.2(NEB):c.1504T>C (p.Phe502Leu) rs759653954 0.00002
NM_001164508.2(NEB):c.16828G>T (p.Val5610Leu) rs759755890 0.00002
NM_001164508.2(NEB):c.16995T>C (p.Asn5665=) rs761988373 0.00002
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met) rs746737604 0.00002
NM_001164508.2(NEB):c.17185G>A (p.Asp5729Asn) rs374867405 0.00002
NM_001164508.2(NEB):c.17200T>C (p.Trp5734Arg) rs369065324 0.00002
NM_001164508.2(NEB):c.17369C>T (p.Thr5790Ile) rs752014573 0.00002
NM_001164508.2(NEB):c.17380G>A (p.Asp5794Asn) rs765593110 0.00002
NM_001164508.2(NEB):c.17389G>A (p.Asp5797Asn) rs375143141 0.00002
NM_001164508.2(NEB):c.17401G>A (p.Ala5801Thr) rs1204919597 0.00002
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr) rs1267739726 0.00002
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys) rs533393007 0.00002
NM_001164508.2(NEB):c.18255G>A (p.Met6085Ile) rs553375465 0.00002
NM_001164508.2(NEB):c.1829G>A (p.Gly610Glu) rs139125293 0.00002
NM_001164508.2(NEB):c.18366+9G>A rs759834773 0.00002
NM_001164508.2(NEB):c.18693+9_18693+10del rs756671954 0.00002
NM_001164508.2(NEB):c.1872G>T (p.Leu624Phe) rs775430225 0.00002
NM_001164508.2(NEB):c.18830C>T (p.Thr6277Met) rs371689870 0.00002
NM_001164508.2(NEB):c.19121A>G (p.Tyr6374Cys) rs1177490619 0.00002
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln) rs375182306 0.00002
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys) rs765363585 0.00002
NM_001164508.2(NEB):c.19544G>A (p.Arg6515His) rs757278862 0.00002
NM_001164508.2(NEB):c.1954A>G (p.Thr652Ala) rs752227497 0.00002
NM_001164508.2(NEB):c.19621A>C (p.Ser6541Arg) rs779842159 0.00002
NM_001164508.2(NEB):c.19913G>A (p.Arg6638Gln) rs375307136 0.00002
NM_001164508.2(NEB):c.20099T>C (p.Leu6700Pro) rs560109089 0.00002
NM_001164508.2(NEB):c.20144A>G (p.Asn6715Ser) rs536934629 0.00002
NM_001164508.2(NEB):c.20728G>A (p.Ala6910Thr) rs750152377 0.00002
NM_001164508.2(NEB):c.21689C>T (p.Ala7230Val) rs368315910 0.00002
NM_001164508.2(NEB):c.21916G>A (p.Ala7306Thr) rs1289511955 0.00002
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val) rs374581669 0.00002
NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr) rs373852098 0.00002
NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu) rs372387518 0.00002
NM_001164508.2(NEB):c.23637C>G (p.Asp7879Glu) rs374029795 0.00002
NM_001164508.2(NEB):c.23650-5T>G rs773618223 0.00002
NM_001164508.2(NEB):c.2382C>T (p.Ile794=) rs532547534 0.00002
NM_001164508.2(NEB):c.23928+4T>C rs768465696 0.00002
NM_001164508.2(NEB):c.24358G>A (p.Glu8120Lys) rs969631939 0.00002
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His) rs759962661 0.00002
NM_001164508.2(NEB):c.24742C>T (p.Arg8248Cys) rs748561855 0.00002
NM_001164508.2(NEB):c.2490G>A (p.Leu830=) rs1259136731 0.00002
NM_001164508.2(NEB):c.25256T>C (p.Leu8419Pro) rs370819880 0.00002
NM_001164508.2(NEB):c.2638C>T (p.Arg880Cys) rs371027084 0.00002
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile) rs769233880 0.00002
NM_001164508.2(NEB):c.3239G>A (p.Arg1080Lys) rs1377050628 0.00002
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val) rs752809792 0.00002
NM_001164508.2(NEB):c.3370C>T (p.Arg1124Trp) rs758590520 0.00002
NM_001164508.2(NEB):c.3491C>A (p.Ser1164Tyr) rs944276562 0.00002
NM_001164508.2(NEB):c.3497A>T (p.His1166Leu) rs765273968 0.00002
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn) rs779673816 0.00002
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=) rs763075598 0.00002
NM_001164508.2(NEB):c.4105G>A (p.Glu1369Lys) rs779213215 0.00002
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120 0.00002
NM_001164508.2(NEB):c.4343G>C (p.Gly1448Ala) rs756000690 0.00002
NM_001164508.2(NEB):c.4376A>T (p.Lys1459Met) rs975412307 0.00002
NM_001164508.2(NEB):c.4392C>T (p.Gly1464=) rs771527086 0.00002
NM_001164508.2(NEB):c.4528G>A (p.Glu1510Lys) rs370064863 0.00002
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655 0.00002
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys) rs183333679 0.00002
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621 0.00002
NM_001164508.2(NEB):c.4883C>A (p.Pro1628His) rs771495234 0.00002
NM_001164508.2(NEB):c.5177C>T (p.Thr1726Ile) rs552140238 0.00002
NM_001164508.2(NEB):c.5697C>T (p.Thr1899=) rs761341951 0.00002
NM_001164508.2(NEB):c.5868T>C (p.Ser1956=) rs374717947 0.00002
NM_001164508.2(NEB):c.5882G>A (p.Arg1961His) rs767185795 0.00002
NM_001164508.2(NEB):c.6145A>G (p.Ile2049Val) rs755853362 0.00002
NM_001164508.2(NEB):c.6225G>T (p.Met2075Ile) rs760968740 0.00002
NM_001164508.2(NEB):c.6390C>T (p.Ala2130=) rs974601635 0.00002
NM_001164508.2(NEB):c.6392A>T (p.Asn2131Ile) rs781202038 0.00002
NM_001164508.2(NEB):c.674C>T (p.Pro225Leu) rs770322824 0.00002
NM_001164508.2(NEB):c.6893C>T (p.Ala2298Val) rs1280388530 0.00002
NM_001164508.2(NEB):c.6967C>T (p.Arg2323Trp) rs1204576083 0.00002
NM_001164508.2(NEB):c.734G>T (p.Gly245Val) rs765569689 0.00002
NM_001164508.2(NEB):c.7761G>C (p.Arg2587Ser) rs869312958 0.00002
NM_001164508.2(NEB):c.7860C>T (p.Ser2620=) rs753267809 0.00002
NM_001164508.2(NEB):c.8224G>C (p.Glu2742Gln) rs772837483 0.00002
NM_001164508.2(NEB):c.8319G>T (p.Arg2773=) rs746644593 0.00002
NM_001164508.2(NEB):c.8556G>A (p.Val2852=) rs368155040 0.00002
NM_001164508.2(NEB):c.8690T>C (p.Met2897Thr) rs747466015 0.00002
NM_001164508.2(NEB):c.8968A>G (p.Arg2990Gly) rs765940770 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001164508.2(NEB):c.9133C>T (p.Leu3045Phe) rs533898172 0.00002
NM_001164508.2(NEB):c.9853C>T (p.Arg3285Cys) rs370572955 0.00002
NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr) rs186634689 0.00002
NM_001164508.2(NEB):c.992C>G (p.Pro331Arg) rs763822076 0.00002
NM_001164508.2(NEB):c.994G>A (p.Glu332Lys) rs748518353 0.00002
NM_001953.5(TYMP):c.1266G>A (p.Glu422=) rs932099850 0.00002
NM_001953.5(TYMP):c.594A>G (p.Leu198=) rs753241194 0.00002
NM_004553.6(NDUFS6):c.165G>T (p.Arg55=) rs147278612 0.00002
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) rs118203929 0.00002
NM_025215.6(PUS1):c.127C>T (p.Pro43Ser) rs928144275 0.00002
NM_025215.6(PUS1):c.136C>T (p.Arg46Trp) rs765257355 0.00002
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588 0.00002
NM_025215.6(PUS1):c.841G>A (p.Val281Met) rs776626629 0.00002
NM_000252.3(MTM1):c.1080A>G (p.Val360=) rs782202285 0.00001
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) rs373788741 0.00001
NM_000252.3(MTM1):c.1290C>T (p.Thr430=) rs374725419 0.00001
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys) rs782664128 0.00001
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln) rs782032230 0.00001
NM_000252.3(MTM1):c.447A>G (p.Pro149=) rs782149231 0.00001
NM_000252.3(MTM1):c.65C>T (p.Thr22Met) rs781886721 0.00001
NM_000252.3(MTM1):c.783C>T (p.Leu261=) rs187394611 0.00001
NM_000252.3(MTM1):c.931A>G (p.Ile311Val) rs782444216 0.00001
NM_001164507.2(NEB):c.21327T>G (p.Ala7109=) rs777930884 0.00001
NM_001164507.2(NEB):c.21359T>C (p.Leu7120Pro) rs762447469 0.00001
NM_001164507.2(NEB):c.21402C>T (p.Gly7134=) rs774372075 0.00001
NM_001164508.2(NEB):c.10016T>G (p.Val3339Gly) rs778763661 0.00001
NM_001164508.2(NEB):c.10037C>T (p.Thr3346Ile) rs1560628791 0.00001
NM_001164508.2(NEB):c.10112A>G (p.His3371Arg) rs372053480 0.00001
NM_001164508.2(NEB):c.10154A>G (p.Lys3385Arg) rs186278440 0.00001
NM_001164508.2(NEB):c.10560T>C (p.Asp3520=) rs368803600 0.00001
NM_001164508.2(NEB):c.10676G>A (p.Arg3559His) rs376558062 0.00001
NM_001164508.2(NEB):c.10856A>G (p.Tyr3619Cys) rs1049205301 0.00001
NM_001164508.2(NEB):c.10910T>C (p.Ile3637Thr) rs2098276722 0.00001
NM_001164508.2(NEB):c.10922C>T (p.Pro3641Leu) rs377027708 0.00001
NM_001164508.2(NEB):c.10940T>C (p.Val3647Ala) rs1316575607 0.00001
NM_001164508.2(NEB):c.10992G>C (p.Gln3664His) rs1386975124 0.00001
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=) rs547109690 0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_001164508.2(NEB):c.11181+3A>G rs1448725511 0.00001
NM_001164508.2(NEB):c.11300A>G (p.Lys3767Arg) rs761139484 0.00001
NM_001164508.2(NEB):c.11429A>G (p.Lys3810Arg) rs562419268 0.00001
NM_001164508.2(NEB):c.114G>A (p.Arg38=) rs1578040445 0.00001
NM_001164508.2(NEB):c.11506G>T (p.Asp3836Tyr) rs758723038 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.11533G>C (p.Glu3845Gln) rs755390933 0.00001
NM_001164508.2(NEB):c.11589C>T (p.Asp3863=) rs372772607 0.00001
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr) rs772235127 0.00001
NM_001164508.2(NEB):c.11828A>G (p.Asp3943Gly) rs371102558 0.00001
NM_001164508.2(NEB):c.11843C>T (p.Ser3948Phe) rs757175445 0.00001
NM_001164508.2(NEB):c.11884A>C (p.Lys3962Gln) rs1194302071 0.00001
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys) rs745504838 0.00001
NM_001164508.2(NEB):c.11974A>G (p.Ile3992Val) rs1465332264 0.00001
NM_001164508.2(NEB):c.11982C>G (p.Ile3994Met) rs780157705 0.00001
NM_001164508.2(NEB):c.12171G>T (p.Lys4057Asn) rs747847680 0.00001
NM_001164508.2(NEB):c.12176C>G (p.Ser4059Cys) rs1475951452 0.00001
NM_001164508.2(NEB):c.12234T>A (p.Thr4078=) rs752937326 0.00001
NM_001164508.2(NEB):c.12239T>C (p.Ile4080Thr) rs557283717 0.00001
NM_001164508.2(NEB):c.1225C>T (p.Leu409Phe) rs373883986 0.00001
NM_001164508.2(NEB):c.12640-10C>T rs1264692800 0.00001
NM_001164508.2(NEB):c.1312T>G (p.Phe438Val) rs959840049 0.00001
NM_001164508.2(NEB):c.13132A>G (p.Arg4378Gly) rs1189557869 0.00001
NM_001164508.2(NEB):c.13251A>C (p.Val4417=) rs1246456851 0.00001
NM_001164508.2(NEB):c.1365+2T>C rs770797137 0.00001
NM_001164508.2(NEB):c.1365+5G>T rs1553607969 0.00001
NM_001164508.2(NEB):c.1366A>G (p.Lys456Glu) rs1484438248 0.00001
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val) rs772070576 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.1528G>T (p.Val510Phe) rs749473348 0.00001
NM_001164508.2(NEB):c.1613A>G (p.His538Arg) rs925195870 0.00001
NM_001164508.2(NEB):c.1614T>C (p.His538=) rs769074908 0.00001
NM_001164508.2(NEB):c.1621C>G (p.Pro541Ala) rs1324280943 0.00001
NM_001164508.2(NEB):c.1648A>G (p.Lys550Glu) rs756920047 0.00001
NM_001164508.2(NEB):c.16814T>C (p.Val5605Ala) rs527672223 0.00001
NM_001164508.2(NEB):c.16958T>C (p.Met5653Thr) rs763012000 0.00001
NM_001164508.2(NEB):c.16967C>T (p.Thr5656Ile) rs1353681047 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.17156A>T (p.His5719Leu) rs776095941 0.00001
NM_001164508.2(NEB):c.1718T>C (p.Phe573Ser) rs767710795 0.00001
NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys) rs1000108046 0.00001
NM_001164508.2(NEB):c.17243G>A (p.Arg5748Gln) rs773983252 0.00001
NM_001164508.2(NEB):c.17347C>T (p.Arg5783Cys) rs1037281077 0.00001
NM_001164508.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422 0.00001
NM_001164508.2(NEB):c.17573C>T (p.Thr5858Met) rs747699601 0.00001
NM_001164508.2(NEB):c.17644C>T (p.Arg5882Trp) rs769673154 0.00001
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln) rs558345996 0.00001
NM_001164508.2(NEB):c.17913T>A (p.Asp5971Glu) rs1167894918 0.00001
NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn) rs752928207 0.00001
NM_001164508.2(NEB):c.18083T>C (p.Leu6028Ser) rs1221212842 0.00001
NM_001164508.2(NEB):c.18144C>T (p.Asp6048=) rs1319860549 0.00001
NM_001164508.2(NEB):c.1826T>C (p.Ile609Thr) rs748239538 0.00001
NM_001164508.2(NEB):c.1828G>A (p.Gly610Arg) rs1166853973 0.00001
NM_001164508.2(NEB):c.18330T>G (p.Ile6110Met) rs2096323080 0.00001
NM_001164508.2(NEB):c.18375T>C (p.Tyr6125=) rs1300207920 0.00001
NM_001164508.2(NEB):c.1839C>T (p.Ser613=) rs751976783 0.00001
NM_001164508.2(NEB):c.18439C>T (p.His6147Tyr) rs1577779523 0.00001
NM_001164508.2(NEB):c.18531C>T (p.Arg6177=) rs541088387 0.00001
NM_001164508.2(NEB):c.18542T>C (p.Ile6181Thr) rs764500250 0.00001
NM_001164508.2(NEB):c.18709C>G (p.His6237Asp) rs750141196 0.00001
NM_001164508.2(NEB):c.18762C>T (p.His6254=) rs748339284 0.00001
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met) rs781706876 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.18904G>A (p.Asp6302Asn) rs766403303 0.00001
NM_001164508.2(NEB):c.1896T>A (p.Asp632Glu) rs978952705 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001164508.2(NEB):c.19242C>T (p.Ala6414=) rs773178453 0.00001
NM_001164508.2(NEB):c.192G>A (p.Lys64=) rs761189437 0.00001
NM_001164508.2(NEB):c.19313A>G (p.His6438Arg) rs1015281617 0.00001
NM_001164508.2(NEB):c.19324C>T (p.Arg6442Trp) rs746394316 0.00001
NM_001164508.2(NEB):c.19372G>C (p.Val6458Leu) rs774608228 0.00001
NM_001164508.2(NEB):c.19426G>A (p.Asp6476Asn) rs752626000 0.00001
NM_001164508.2(NEB):c.19486A>G (p.Met6496Val) rs1354087086 0.00001
NM_001164508.2(NEB):c.1957C>T (p.Pro653Ser) rs759215923 0.00001
NM_001164508.2(NEB):c.19613A>T (p.Asp6538Val) rs747034126 0.00001
NM_001164508.2(NEB):c.19628T>C (p.Ile6543Thr) rs756123091 0.00001
NM_001164508.2(NEB):c.19732-5G>A rs779841022 0.00001
NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn) rs534519331 0.00001
NM_001164508.2(NEB):c.19939A>G (p.Ser6647Gly) rs1559830688 0.00001
NM_001164508.2(NEB):c.19944+7A>G rs201751179 0.00001
NM_001164508.2(NEB):c.1998+5G>A rs1015618560 0.00001
NM_001164508.2(NEB):c.1999G>A (p.Ala667Thr) rs750186349 0.00001
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His) rs1487589344 0.00001
NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val) rs753409626 0.00001
NM_001164508.2(NEB):c.20371A>G (p.Lys6791Glu) rs758370711 0.00001
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys) rs1014627144 0.00001
NM_001164508.2(NEB):c.20437G>A (p.Val6813Ile) rs951646007 0.00001
NM_001164508.2(NEB):c.20727C>T (p.His6909=) rs779779886 0.00001
NM_001164508.2(NEB):c.20777T>C (p.Met6926Thr) rs763737123 0.00001
NM_001164508.2(NEB):c.20846C>T (p.Thr6949Met) rs767461697 0.00001
NM_001164508.2(NEB):c.20897G>A (p.Arg6966His) rs767230683 0.00001
NM_001164508.2(NEB):c.20971C>T (p.Arg6991Cys) rs901568718 0.00001
NM_001164508.2(NEB):c.20977G>A (p.Val6993Ile) rs779881258 0.00001
NM_001164508.2(NEB):c.21042G>A (p.Arg7014=) rs778067687 0.00001
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=) rs767655200 0.00001
NM_001164508.2(NEB):c.21077G>A (p.Arg7026Gln) rs1487630736 0.00001
NM_001164508.2(NEB):c.21196C>A (p.Leu7066Ile) rs1428589113 0.00001
NM_001164508.2(NEB):c.21312+5G>A rs778363526 0.00001
NM_001164508.2(NEB):c.21497C>T (p.Thr7166Ile) rs766520487 0.00001
NM_001164508.2(NEB):c.2162C>T (p.Thr721Ile) rs749168085 0.00001
NM_001164508.2(NEB):c.21706G>C (p.Ala7236Pro) rs777945797 0.00001
NM_001164508.2(NEB):c.21735T>C (p.Asn7245=) rs568248647 0.00001
NM_001164508.2(NEB):c.21761C>A (p.Ala7254Asp) rs778063345 0.00001
NM_001164508.2(NEB):c.21841-6T>A rs767466501 0.00001
NM_001164508.2(NEB):c.21906C>T (p.Asn7302=) rs757845188 0.00001
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln) rs756646859 0.00001
NM_001164508.2(NEB):c.21976A>C (p.Arg7326=) rs780790042 0.00001
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu) rs780299519 0.00001
NM_001164508.2(NEB):c.22022C>T (p.Ala7341Val) rs550296441 0.00001
NM_001164508.2(NEB):c.22051-3C>A rs1172424440 0.00001
NM_001164508.2(NEB):c.22067A>G (p.His7356Arg) rs1447292730 0.00001
NM_001164508.2(NEB):c.22091G>A (p.Gly7364Asp) rs376684415 0.00001
NM_001164508.2(NEB):c.2211+5G>T rs797045736 0.00001
NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp) rs779004876 0.00001
NM_001164508.2(NEB):c.22268G>A (p.Ser7423Asn) rs759974940 0.00001
NM_001164508.2(NEB):c.22374+6G>A rs749050869 0.00001
NM_001164508.2(NEB):c.22396C>T (p.Arg7466Cys) rs768826001 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu) rs376495046 0.00001
NM_001164508.2(NEB):c.22629C>T (p.Pro7543=) rs373263895 0.00001
NM_001164508.2(NEB):c.22663C>T (p.His7555Tyr) rs746454129 0.00001
NM_001164508.2(NEB):c.22672A>T (p.Asn7558Tyr) rs771643485 0.00001
NM_001164508.2(NEB):c.22750G>A (p.Asp7584Asn) rs758761216 0.00001
NM_001164508.2(NEB):c.22774A>C (p.Lys7592Gln) rs903199022 0.00001
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) rs555582398 0.00001
NM_001164508.2(NEB):c.22986T>C (p.His7662=) rs149606244 0.00001
NM_001164508.2(NEB):c.23054G>A (p.Gly7685Glu) rs768880396 0.00001
NM_001164508.2(NEB):c.23127+2T>C rs112610938 0.00001
NM_001164508.2(NEB):c.23551A>T (p.Ser7851Cys) rs371991383 0.00001
NM_001164508.2(NEB):c.23596G>A (p.Gly7866Arg) rs1480807112 0.00001
NM_001164508.2(NEB):c.2366A>G (p.Asp789Gly) rs201498216 0.00001
NM_001164508.2(NEB):c.23764G>A (p.Gly7922Arg) rs762094581 0.00001
NM_001164508.2(NEB):c.23765G>C (p.Gly7922Ala) rs1253296856 0.00001
NM_001164508.2(NEB):c.23803A>G (p.Arg7935Gly) rs1318564274 0.00001
NM_001164508.2(NEB):c.23816A>G (p.Asn7939Ser) rs1461067378 0.00001
NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln) rs767969927 0.00001
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys) rs1202510810 0.00001
NM_001164508.2(NEB):c.24020C>T (p.Ser8007Leu) rs763365852 0.00001
NM_001164508.2(NEB):c.24021+8G>A rs1361035933 0.00001
NM_001164508.2(NEB):c.24115G>T (p.Val8039Leu) rs1037262755 0.00001
NM_001164508.2(NEB):c.24306A>C (p.Leu8102Phe) rs1217235799 0.00001
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp) rs960735572 0.00001
NM_001164508.2(NEB):c.24393+1G>A rs775631800 0.00001
NM_001164508.2(NEB):c.24393G>A (p.Ser8131=) rs527744844 0.00001
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs) rs762133567 0.00001
NM_001164508.2(NEB):c.24413T>C (p.Met8138Thr) rs1320244420 0.00001
NM_001164508.2(NEB):c.24486G>A (p.Ser8162=) rs1230102324 0.00001
NM_001164508.2(NEB):c.24493T>C (p.Tyr8165His) rs775139388 0.00001
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu) rs398124169 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001164508.2(NEB):c.24873+7C>T rs372378614 0.00001
NM_001164508.2(NEB):c.249C>T (p.Thr83=) rs200936927 0.00001
NM_001164508.2(NEB):c.25089G>A (p.Ser8363=) rs766453942 0.00001
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=) rs763433145 0.00001
NM_001164508.2(NEB):c.25150+3G>A rs556224656 0.00001
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu) rs949111967 0.00001
NM_001164508.2(NEB):c.2533A>G (p.Lys845Glu) rs772154599 0.00001
NM_001164508.2(NEB):c.2579G>A (p.Ser860Asn) rs1368018193 0.00001
NM_001164508.2(NEB):c.2755C>G (p.His919Asp) rs373168257 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.2892T>C (p.Phe964=) rs762595663 0.00001
NM_001164508.2(NEB):c.2909A>T (p.Glu970Val) rs1337927808 0.00001
NM_001164508.2(NEB):c.2923G>A (p.Ala975Thr) rs917645712 0.00001
NM_001164508.2(NEB):c.2931C>T (p.Asp977=) rs1576205507 0.00001
NM_001164508.2(NEB):c.2954G>A (p.Arg985His) rs769987120 0.00001
NM_001164508.2(NEB):c.2968A>G (p.Thr990Ala) rs1043417027 0.00001
NM_001164508.2(NEB):c.2979T>C (p.Phe993=) rs780408206 0.00001
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser) rs763910385 0.00001
NM_001164508.2(NEB):c.3131C>G (p.Ala1044Gly) rs748741238 0.00001
NM_001164508.2(NEB):c.3165C>T (p.Asp1055=) rs1448712345 0.00001
NM_001164508.2(NEB):c.3224C>A (p.Ala1075Asp) rs574309369 0.00001
NM_001164508.2(NEB):c.3224C>T (p.Ala1075Val) rs574309369 0.00001
NM_001164508.2(NEB):c.3349G>A (p.Val1117Met) rs1404806019 0.00001
NM_001164508.2(NEB):c.3439G>A (p.Val1147Met) rs757659868 0.00001
NM_001164508.2(NEB):c.3547A>G (p.Met1183Val) rs371816204 0.00001
NM_001164508.2(NEB):c.3568-10A>G rs774345653 0.00001
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu) rs537769519 0.00001
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met) rs767433330 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.4079A>G (p.Asn1360Ser) rs774219262 0.00001
NM_001164508.2(NEB):c.4109A>G (p.Tyr1370Cys) rs1230970164 0.00001
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln) rs747423578 0.00001
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg) rs762809955 0.00001
NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn) rs534646949 0.00001
NM_001164508.2(NEB):c.4218A>G (p.Lys1406=) rs754513702 0.00001
NM_001164508.2(NEB):c.422G>T (p.Gly141Val) rs973669056 0.00001
NM_001164508.2(NEB):c.4243C>T (p.Leu1415=) rs749514411 0.00001
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=) rs755877926 0.00001
NM_001164508.2(NEB):c.4555G>A (p.Asp1519Asn) rs781655186 0.00001
NM_001164508.2(NEB):c.4653C>G (p.Gly1551=) rs1471553322 0.00001
NM_001164508.2(NEB):c.4655A>G (p.Tyr1552Cys) rs1257025966 0.00001
NM_001164508.2(NEB):c.4693A>G (p.Lys1565Glu) rs767580883 0.00001
NM_001164508.2(NEB):c.4736C>A (p.Ala1579Asp) rs751602407 0.00001
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser) rs772492791 0.00001
NM_001164508.2(NEB):c.4894G>A (p.Val1632Ile) rs1575593044 0.00001
NM_001164508.2(NEB):c.5087T>C (p.Ile1696Thr) rs937014596 0.00001
NM_001164508.2(NEB):c.5091G>C (p.Glu1697Asp) rs1349969572 0.00001
NM_001164508.2(NEB):c.5123G>A (p.Gly1708Glu) rs971655417 0.00001
NM_001164508.2(NEB):c.5326C>A (p.Gln1776Lys) rs1306269352 0.00001
NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu) rs541641039 0.00001
NM_001164508.2(NEB):c.5434A>G (p.Arg1812Gly) rs1466182533 0.00001
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp) rs755791156 0.00001
NM_001164508.2(NEB):c.5571A>G (p.Glu1857=) rs201539560 0.00001
NM_001164508.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019 0.00001
NM_001164508.2(NEB):c.5761G>T (p.Asp1921Tyr) rs763408172 0.00001
NM_001164508.2(NEB):c.5768A>G (p.Gln1923Arg) rs755003638 0.00001
NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355 0.00001
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=) rs757546480 0.00001
NM_001164508.2(NEB):c.5912C>T (p.Thr1971Ile) rs762592136 0.00001
NM_001164508.2(NEB):c.5972A>G (p.His1991Arg) rs750070644 0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790 0.00001
NM_001164508.2(NEB):c.6235C>T (p.Arg2079Cys) rs753064438 0.00001
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile) rs747729019 0.00001
NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp) rs756398214 0.00001
NM_001164508.2(NEB):c.6388G>A (p.Ala2130Thr) rs756130763 0.00001
NM_001164508.2(NEB):c.6479A>G (p.Asn2160Ser) rs774148469 0.00001
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu) rs752328965 0.00001
NM_001164508.2(NEB):c.6732T>G (p.Asp2244Glu) rs765096308 0.00001
NM_001164508.2(NEB):c.6815A>G (p.Tyr2272Cys) rs762107662 0.00001
NM_001164508.2(NEB):c.6868G>A (p.Ala2290Thr) rs777601721 0.00001
NM_001164508.2(NEB):c.6968G>A (p.Arg2323Gln) rs369456343 0.00001
NM_001164508.2(NEB):c.6A>T (p.Ala2=) rs778187569 0.00001
NM_001164508.2(NEB):c.7025G>T (p.Ser2342Ile) rs372132667 0.00001
NM_001164508.2(NEB):c.718-6C>T rs371791129 0.00001
NM_001164508.2(NEB):c.7209T>A (p.Val2403=) rs778083630 0.00001
NM_001164508.2(NEB):c.7374C>T (p.Ser2458=) rs1318587515 0.00001
NM_001164508.2(NEB):c.739G>A (p.Ala247Thr) rs571451076 0.00001
NM_001164508.2(NEB):c.7610A>C (p.Lys2537Thr) rs375216853 0.00001
NM_001164508.2(NEB):c.761C>T (p.Thr254Met) rs376835458 0.00001
NM_001164508.2(NEB):c.7628G>A (p.Arg2543Gln) rs758589097 0.00001
NM_001164508.2(NEB):c.7691G>T (p.Gly2564Val) rs1334008702 0.00001
NM_001164508.2(NEB):c.7722G>T (p.Met2574Ile) rs748066063 0.00001
NM_001164508.2(NEB):c.7788G>T (p.Trp2596Cys) rs377602828 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001164508.2(NEB):c.7834G>A (p.Ala2612Thr) rs779023599 0.00001
NM_001164508.2(NEB):c.7863C>T (p.Asp2621=) rs1419803549 0.00001
NM_001164508.2(NEB):c.7908C>T (p.Asp2636=) rs774348830 0.00001
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys) rs369224273 0.00001
NM_001164508.2(NEB):c.8152A>T (p.Met2718Leu) rs767511888 0.00001
NM_001164508.2(NEB):c.8162G>A (p.Arg2721His) rs753996512 0.00001
NM_001164508.2(NEB):c.8257T>C (p.Tyr2753His) rs548343514 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001164508.2(NEB):c.8393A>G (p.Tyr2798Cys) rs750799792 0.00001
NM_001164508.2(NEB):c.8467G>A (p.Val2823Met) rs757497327 0.00001
NM_001164508.2(NEB):c.8537C>T (p.Pro2846Leu) rs765207403 0.00001
NM_001164508.2(NEB):c.8545A>T (p.Met2849Leu) rs764499750 0.00001
NM_001164508.2(NEB):c.8775T>C (p.Thr2925=) rs761257246 0.00001
NM_001164508.2(NEB):c.877C>T (p.Pro293Ser) rs200672688 0.00001
NM_001164508.2(NEB):c.8949A>C (p.Thr2983=) rs774786443 0.00001
NM_001164508.2(NEB):c.9007C>G (p.Leu3003Val) rs1415513452 0.00001
NM_001164508.2(NEB):c.901A>G (p.Arg301Gly) rs756396449 0.00001
NM_001164508.2(NEB):c.9051C>T (p.Ser3017=) rs777722290 0.00001
NM_001164508.2(NEB):c.9196G>A (p.Val3066Ile) rs755604172 0.00001
NM_001164508.2(NEB):c.9329A>G (p.Tyr3110Cys) rs778306283 0.00001
NM_001164508.2(NEB):c.9425A>G (p.Lys3142Arg) rs771774138 0.00001
NM_001164508.2(NEB):c.9465C>G (p.Pro3155=) rs1021985219 0.00001
NM_001164508.2(NEB):c.9504C>T (p.Thr3168=) rs770587751 0.00001
NM_001164508.2(NEB):c.9540G>A (p.Pro3180=) rs373833313 0.00001
NM_001164508.2(NEB):c.9568G>T (p.Asp3190Tyr) rs781238222 0.00001
NM_001164508.2(NEB):c.9689T>C (p.Met3230Thr) rs760551196 0.00001
NM_001164508.2(NEB):c.9796G>A (p.Val3266Met) rs564504601 0.00001
NM_001164508.2(NEB):c.9827G>A (p.Ser3276Asn) rs1168444365 0.00001
NM_001164508.2(NEB):c.9964T>A (p.Phe3322Ile) rs369385033 0.00001
NM_001164508.2(NEB):c.9986T>A (p.Phe3329Tyr) rs776107526 0.00001
NM_001953.5(TYMP):c.1030G>C (p.Glu344Gln) rs1085307802 0.00001
NM_001953.5(TYMP):c.1209G>A (p.Glu403=) rs752674133 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.5(TYMP):c.1404C>T (p.Ala468=) rs1159355069 0.00001
NM_001953.5(TYMP):c.198G>A (p.Ala66=) rs1172184794 0.00001
NM_001953.5(TYMP):c.281C>T (p.Ala94Val) rs863224249 0.00001
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) rs121913038 0.00001
NM_001953.5(TYMP):c.762G>A (p.Thr254=) rs373478014 0.00001
NM_004553.6(NDUFS6):c.306C>T (p.Asn102=) rs773991515 0.00001
NM_004553.6(NDUFS6):c.353A>G (p.Gln118Arg) rs748728259 0.00001
NM_024120.5(NDUFAF5):c.263+8G>A rs200867652 0.00001
NM_024120.5(NDUFAF5):c.672C>T (p.Asp224=) rs1199767012 0.00001
NM_025215.6(PUS1):c.41G>A (p.Arg14Gln) rs146103500 0.00001
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893 0.00001
NM_025215.6(PUS1):c.966G>A (p.Lys322=) rs746905159 0.00001
NM_025215.6(PUS1):c.973G>A (p.Val325Met) rs1156671661 0.00001
NM_000252.3(MTM1):c.1054-9_1054-6del rs782691958
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.1667G>A (p.Arg556His) rs372735301
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala) rs1195705222
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly) rs964287315
NM_000252.3(MTM1):c.912C>T (p.Ala304=) rs782504569
NM_001164508.2(NEB):c.10021G>T (p.Ala3341Ser) rs1574279999
NM_001164508.2(NEB):c.10275G>A (p.Lys3425=) rs1205545857
NM_001164508.2(NEB):c.10289G>A (p.Ser3430Asn) rs1370385550
NM_001164508.2(NEB):c.10393A>G (p.Ile3465Val) rs535926481
NM_001164508.2(NEB):c.10462C>T (p.Arg3488Cys) rs765175171
NM_001164508.2(NEB):c.10591T>C (p.Leu3531=) rs2098336175
NM_001164508.2(NEB):c.10706A>G (p.Lys3569Arg) rs371572709
NM_001164508.2(NEB):c.1070G>A (p.Gly357Glu) rs1221725692
NM_001164508.2(NEB):c.1074A>G (p.Lys358=) rs2099709094
NM_001164508.2(NEB):c.10819C>A (p.Pro3607Thr) rs2098331597
NM_001164508.2(NEB):c.10872C>A (p.Asp3624Glu) rs781328083
NM_001164508.2(NEB):c.10955G>A (p.Arg3652Lys) rs1553908653
NM_001164508.2(NEB):c.11032C>G (p.Pro3678Ala) rs879255369
NM_001164508.2(NEB):c.11312G>T (p.Arg3771Leu) rs374486286
NM_001164508.2(NEB):c.11467G>C (p.Gly3823Arg) rs1489953672
NM_001164508.2(NEB):c.1152+1G>T rs398124167
NM_001164508.2(NEB):c.1162A>G (p.Lys388Glu) rs1159204491
NM_001164508.2(NEB):c.11636G>A (p.Gly3879Asp) rs199766288
NM_001164508.2(NEB):c.11654T>A (p.Ile3885Asn) rs1367960856
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn) rs201483656
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr) rs201483656
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.11826G>C (p.Trp3942Cys) rs759613419
NM_001164508.2(NEB):c.11980A>G (p.Ile3994Val) rs751650751
NM_001164508.2(NEB):c.1209G>T (p.Glu403Asp) rs1576715880
NM_001164508.2(NEB):c.12160del (p.Trp4054fs) rs1319778592
NM_001164508.2(NEB):c.12251A>G (p.Asn4084Ser) rs761668198
NM_001164508.2(NEB):c.12260A>G (p.His4087Arg) rs199683595
NM_001164508.2(NEB):c.12278C>G (p.Pro4093Arg) rs749270501
NM_001164508.2(NEB):c.12288C>A (p.Asn4096Lys) rs755521679
NM_001164508.2(NEB):c.12362G>A (p.Arg4121His) rs1310133597
NM_001164508.2(NEB):c.12369C>T (p.Ile4123=) rs1277282343
NM_001164508.2(NEB):c.12370G>A (p.Gly4124Ser) rs1227592399
NM_001164508.2(NEB):c.12406G>A (p.Val4136Met) rs1553877868
NM_001164508.2(NEB):c.12426C>T (p.Leu4142=) rs1320574868
NM_001164508.2(NEB):c.12443A>G (p.Tyr4148Cys) rs1553877721
NM_001164508.2(NEB):c.12474C>T (p.Thr4158=) rs1579059705
NM_001164508.2(NEB):c.12483C>T (p.Val4161=) rs876657539
NM_001164508.2(NEB):c.12490C>T (p.Pro4164Ser) rs1553877565
NM_001164508.2(NEB):c.12529A>T (p.Ser4177Cys) rs1553877493
NM_001164508.2(NEB):c.12534+3A>G rs2097772131
NM_001164508.2(NEB):c.12535-10C>T rs2097760296
NM_001164508.2(NEB):c.12550G>A (p.Ala4184Thr) rs1553877049
NM_001164508.2(NEB):c.12601A>T (p.Met4201Leu) rs1553876833
NM_001164508.2(NEB):c.12615C>T (p.His4205=) rs1579048021
NM_001164508.2(NEB):c.12638A>G (p.Asn4213Ser) rs2097758270
NM_001164508.2(NEB):c.12662A>G (p.Asn4221Ser) rs1553875590
NM_001164508.2(NEB):c.12686A>G (p.Asp4229Gly) rs1553875409
NM_001164508.2(NEB):c.12720C>T (p.Ala4240=) rs1579015882
NM_001164508.2(NEB):c.12723G>A (p.Lys4241=) rs772682280
NM_001164508.2(NEB):c.12747+5G>A rs1251007091
NM_001164508.2(NEB):c.12784C>T (p.His4262Tyr) rs2097628697
NM_001164508.2(NEB):c.12800G>A (p.Arg4267His) rs1049044616
NM_001164508.2(NEB):c.12832G>T (p.Ala4278Ser) rs1578941825
NM_001164508.2(NEB):c.12873G>A (p.Lys4291=) rs1578940609
NM_001164508.2(NEB):c.128A>C (p.Glu43Ala) rs752660824
NM_001164508.2(NEB):c.12902A>T (p.His4301Leu) rs1553872062
NM_001164508.2(NEB):c.12911C>T (p.Pro4304Leu) rs1456001729
NM_001164508.2(NEB):c.12922A>G (p.Met4308Val) rs1553871982
NM_001164508.2(NEB):c.12977G>A (p.Arg4326His) rs1429486273
NM_001164508.2(NEB):c.12998C>A (p.Thr4333Lys) rs1319674362
NM_001164508.2(NEB):c.12999G>A (p.Thr4333=) rs1384738774
NM_001164508.2(NEB):c.13056C>A (p.Ser4352Arg) rs1468240932
NM_001164508.2(NEB):c.13056C>T (p.Ser4352=) rs1468240932
NM_001164508.2(NEB):c.13060-2A>G rs2097571378
NM_001164508.2(NEB):c.13105C>T (p.Leu4369=) rs147579763
NM_001164508.2(NEB):c.1310G>A (p.Ser437Asn) rs1466400136
NM_001164508.2(NEB):c.1314C>G (p.Phe438Leu) rs765769921
NM_001164508.2(NEB):c.1314C>T (p.Phe438=) rs765769921
NM_001164508.2(NEB):c.13185T>C (p.Pro4395=) rs1344892267
NM_001164508.2(NEB):c.13218C>A (p.Thr4406=) rs1553867144
NM_001164508.2(NEB):c.13236A>G (p.Ala4412=) rs1578890458
NM_001164508.2(NEB):c.13263+8C>T rs1553866957
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.13317T>C (p.Ala4439=) rs1578873204
NM_001164508.2(NEB):c.13327C>T (p.Leu4443=) rs1578872999
NM_001164508.2(NEB):c.1333C>T (p.His445Tyr) rs771832822
NM_001164508.2(NEB):c.13367A>G (p.Asn4456Ser) rs2097549978
NM_001164508.2(NEB):c.13368+6A>G rs886038433
NM_001164508.2(NEB):c.13369-14CT[2] rs1553865749
NM_001164508.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001164508.2(NEB):c.13406C>T (p.Thr4469Ile) rs1192545815
NM_001164508.2(NEB):c.13456T>A (p.Ser4486Thr) rs886038434
NM_001164508.2(NEB):c.13457C>T (p.Ser4486Phe) rs2097548401
NM_001164508.2(NEB):c.13466T>C (p.Ile4489Thr) rs1433188091
NM_001164508.2(NEB):c.13476+1G>A rs1578868550
NM_001164508.2(NEB):c.13477-2A>G rs2153903681
NM_001164508.2(NEB):c.13477-7C>T rs1328191142
NM_001164508.2(NEB):c.13520T>C (p.Ile4507Thr) rs1553862732
NM_001164508.2(NEB):c.13533C>T (p.Ser4511=) rs1168966918
NM_001164508.2(NEB):c.13548T>G (p.Pro4516=) rs1578803539
NM_001164508.2(NEB):c.13593G>C (p.Arg4531Ser) rs2097451987
NM_001164508.2(NEB):c.13615G>A (p.Asp4539Asn) rs1578802735
NM_001164508.2(NEB):c.13626C>G (p.Ala4542=) rs201225445
NM_001164508.2(NEB):c.13651G>A (p.Val4551Met) rs1553862399
NM_001164508.2(NEB):c.13651G>C (p.Val4551Leu) rs1553862399
NM_001164508.2(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001164508.2(NEB):c.13717C>T (p.His4573Tyr) rs1553862206
NM_001164508.2(NEB):c.13721A>G (p.His4574Arg) rs876657542
NM_001164508.2(NEB):c.13737C>T (p.Pro4579=) rs1578801445
NM_001164508.2(NEB):c.13753A>G (p.Ile4585Val) rs886038440
NM_001164508.2(NEB):c.13754T>C (p.Ile4585Thr) rs1553862132
NM_001164508.2(NEB):c.13785C>T (p.Ser4595=) rs1578800572
NM_001164508.2(NEB):c.1434A>G (p.Glu478=) rs2149351968
NM_001164508.2(NEB):c.14827-14CT[2] rs536426422
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1]) rs757726895
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3]) rs377452683
NM_001164508.2(NEB):c.16789G>A (p.Ala5597Thr) rs749713442
NM_001164508.2(NEB):c.168A>G (p.Ala56=) rs200297299
NM_001164508.2(NEB):c.16934A>G (p.Lys5645Arg) rs2096805812
NM_001164508.2(NEB):c.1700A>T (p.Lys567Met) rs1360278350
NM_001164508.2(NEB):c.17012A>G (p.Asn5671Ser) rs1390168520
NM_001164508.2(NEB):c.17023C>G (p.Arg5675Gly) rs547231033
NM_001164508.2(NEB):c.17049G>A (p.Ala5683=) rs140688592
NM_001164508.2(NEB):c.17198G>A (p.Arg5733His) rs371681892
NM_001164508.2(NEB):c.17234G>A (p.Arg5745Gln) rs773556106
NM_001164508.2(NEB):c.1729G>A (p.Val577Met) rs1419317928
NM_001164508.2(NEB):c.17341G>C (p.Asp5781His) rs897368602
NM_001164508.2(NEB):c.17396T>C (p.Ile5799Thr) rs1262861131
NM_001164508.2(NEB):c.17404AAG[1] (p.Lys5803del) rs1553787578
NM_001164508.2(NEB):c.17491G>A (p.Val5831Met) rs772168965
NM_001164508.2(NEB):c.17619C>T (p.Gly5873=) rs767518298
NM_001164508.2(NEB):c.17635-3del rs3214503
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001164508.2(NEB):c.1763A>G (p.Asn588Ser) rs2099581808
NM_001164508.2(NEB):c.17738A>G (p.Tyr5913Cys) rs2096492304
NM_001164508.2(NEB):c.17980C>G (p.His5994Asp) rs764985237
NM_001164508.2(NEB):c.18008C>G (p.Pro6003Arg) rs2096449520
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001164508.2(NEB):c.18096G>A (p.Met6032Ile) rs764679933
NM_001164508.2(NEB):c.18161T>C (p.Val6054Ala) rs1362288800
NM_001164508.2(NEB):c.18261+5G>A rs375167899
NM_001164508.2(NEB):c.18408T>C (p.Tyr6136=) rs757188494
NM_001164508.2(NEB):c.18425C>A (p.Thr6142Lys) rs377179553
NM_001164508.2(NEB):c.18656T>G (p.Val6219Gly) rs753261774
NM_001164508.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001164508.2(NEB):c.1883A>G (p.Lys628Arg) rs1176664285
NM_001164508.2(NEB):c.18852T>C (p.Asn6284=) rs1362922636
NM_001164508.2(NEB):c.18918G>T (p.Trp6306Cys) rs1559952676
NM_001164508.2(NEB):c.18997-10T>C rs4544436
NM_001164508.2(NEB):c.1900T>C (p.Leu634=) rs1576526817
NM_001164508.2(NEB):c.19097G>A (p.Ser6366Asn) rs191579691
NM_001164508.2(NEB):c.1916A>G (p.Tyr639Cys) rs1559315113
NM_001164508.2(NEB):c.19406G>C (p.Arg6469Pro) rs556624010
NM_001164508.2(NEB):c.19428+8C>A rs773614835
NM_001164508.2(NEB):c.19429C>T (p.Arg6477Cys) rs765181095
NM_001164508.2(NEB):c.19912C>T (p.Arg6638Trp) rs771483221
NM_001164508.2(NEB):c.20018A>C (p.His6673Pro) rs763237724
NM_001164508.2(NEB):c.20158-6A>G rs1553715636
NM_001164508.2(NEB):c.20359A>G (p.Thr6787Ala) rs1028441065
NM_001164508.2(NEB):c.2038C>A (p.His680Asn) rs773702715
NM_001164508.2(NEB):c.2062C>G (p.Pro688Ala) rs750276279
NM_001164508.2(NEB):c.2062C>T (p.Pro688Ser) rs750276279
NM_001164508.2(NEB):c.20968C>T (p.His6990Tyr) rs1383294380
NM_001164508.2(NEB):c.21028T>C (p.Leu7010=) rs750374820
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly) rs1279646895
NM_001164508.2(NEB):c.2136T>G (p.Asp712Glu) rs1359338282
NM_001164508.2(NEB):c.21418-6del rs56026241
NM_001164508.2(NEB):c.21520G>A (p.Asp7174Asn) rs1227689355
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=) rs149510427
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299
NM_001164508.2(NEB):c.21859C>G (p.Arg7287Gly) rs376072545
NM_001164508.2(NEB):c.22007C>T (p.Pro7336Leu) rs1559547106
NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser) rs750642580
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile) rs764524918
NM_001164508.2(NEB):c.2234A>G (p.Asp745Gly) rs1436329266
NM_001164508.2(NEB):c.22372G>A (p.Glu7458Lys) rs2084187419
NM_001164508.2(NEB):c.23010A>T (p.Ala7670=) rs2076734268
NM_001164508.2(NEB):c.23050C>T (p.Arg7684Cys) rs762019205
NM_001164508.2(NEB):c.23315A>G (p.His7772Arg) rs776379234
NM_001164508.2(NEB):c.23350A>G (p.Lys7784Glu) rs2070773602
NM_001164508.2(NEB):c.23405C>A (p.Thr7802Asn) rs780379101
NM_001164508.2(NEB):c.23500G>T (p.Val7834Phe) rs1553601424
NM_001164508.2(NEB):c.23743-1G>C rs797045098
NM_001164508.2(NEB):c.23754_23759dup (p.Lys7918_Glu7919dup) rs778176240
NM_001164508.2(NEB):c.23957G>C (p.Gly7986Ala) rs2064473141
NM_001164508.2(NEB):c.24082A>G (p.Arg8028Gly) rs2062685891
NM_001164508.2(NEB):c.24095A>G (p.Asn8032Ser) rs946188918
NM_001164508.2(NEB):c.24114G>T (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24208-7C>A rs113048349
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup) rs781667543
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs) rs747564597
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs) rs747564597
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup) rs780724946
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup) rs1344099907
NM_001164508.2(NEB):c.24486+10G>A rs755064162
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) rs755863625
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24636G>A (p.Met8212Ile) rs770656983
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24710C>T (p.Thr8237Ile) rs369083039
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.24859C>T (p.Arg8287Trp) rs200804762
NM_001164508.2(NEB):c.25105C>G (p.Pro8369Ala) rs1038960610
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter) rs760200697
NM_001164508.2(NEB):c.25236A>G (p.Ser8412=) rs1574544943
NM_001164508.2(NEB):c.25297+4C>T rs1410859190
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr) rs376984481
NM_001164508.2(NEB):c.25534G>A (p.Gly8512Ser) rs751394716
NM_001164508.2(NEB):c.2569G>A (p.Gly857Arg) rs1559253666
NM_001164508.2(NEB):c.2630A>T (p.Gln877Leu) rs373892420
NM_001164508.2(NEB):c.2762T>C (p.Leu921Ser) rs2099480203
NM_001164508.2(NEB):c.2822C>T (p.Ala941Val) rs765478068
NM_001164508.2(NEB):c.2833G>T (p.Asp945Tyr) rs549231016
NM_001164508.2(NEB):c.2836-2A>G rs1208297049
NM_001164508.2(NEB):c.2904A>G (p.Glu968=) rs2099429615
NM_001164508.2(NEB):c.2987T>C (p.Ile996Thr) rs753691207
NM_001164508.2(NEB):c.3028G>C (p.Ala1010Pro) rs770003609
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001164508.2(NEB):c.3209C>G (p.Ala1070Gly) rs371710158
NM_001164508.2(NEB):c.3209C>T (p.Ala1070Val) rs371710158
NM_001164508.2(NEB):c.3253G>A (p.Asp1085Asn) rs2099400725
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu) rs200637566
NM_001164508.2(NEB):c.3713C>T (p.Thr1238Ile) rs1311528896
NM_001164508.2(NEB):c.3774+4A>C rs1026503983
NM_001164508.2(NEB):c.3862G>A (p.Ala1288Thr) rs775943165
NM_001164508.2(NEB):c.394C>T (p.Leu132Phe) rs2099787743
NM_001164508.2(NEB):c.402+4G>A rs1162289427
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4160T>C (p.Met1387Thr) rs760822809
NM_001164508.2(NEB):c.4244T>A (p.Leu1415Gln) rs2099312411
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001164508.2(NEB):c.43A>G (p.Thr15Ala) rs918736685
NM_001164508.2(NEB):c.4432A>G (p.Thr1478Ala) rs2099279650
NM_001164508.2(NEB):c.4507-3del rs767772701
NM_001164508.2(NEB):c.4611T>C (p.Asp1537=) rs2099254265
NM_001164508.2(NEB):c.4652G>A (p.Gly1551Asp) rs2099240158
NM_001164508.2(NEB):c.4736C>T (p.Ala1579Val) rs751602407
NM_001164508.2(NEB):c.4835G>T (p.Arg1612Leu) rs534531948
NM_001164508.2(NEB):c.4843A>G (p.Lys1615Glu) rs1237432906
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001164508.2(NEB):c.4964A>G (p.His1655Arg) rs2099214775
NM_001164508.2(NEB):c.4978C>T (p.Pro1660Ser) rs776231831
NM_001164508.2(NEB):c.5055C>A (p.Thr1685=) rs1575578013
NM_001164508.2(NEB):c.5074G>A (p.Gly1692Ser) rs764638678
NM_001164508.2(NEB):c.508-6G>A rs374227241
NM_001164508.2(NEB):c.5153A>T (p.Gln1718Leu) rs1064796520
NM_001164508.2(NEB):c.5419G>T (p.Ala1807Ser) rs374677022
NM_001164508.2(NEB):c.5437G>A (p.Asp1813Asn) rs2099187269
NM_001164508.2(NEB):c.5561C>T (p.Ser1854Leu) rs1553485582
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001164508.2(NEB):c.5771A>G (p.Tyr1924Cys) rs747326135
NM_001164508.2(NEB):c.5806G>A (p.Gly1936Arg) rs997951612
NM_001164508.2(NEB):c.5816C>T (p.Pro1939Leu) rs1486289467
NM_001164508.2(NEB):c.5828T>A (p.Leu1943Gln) rs531692437
NM_001164508.2(NEB):c.585C>T (p.Ala195=) rs374538366
NM_001164508.2(NEB):c.5945A>C (p.Gln1982Pro) rs1212716508
NM_001164508.2(NEB):c.6032C>T (p.Pro2011Leu) rs2099118243
NM_001164508.2(NEB):c.6075+3A>T rs986325764
NM_001164508.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001164508.2(NEB):c.6086A>T (p.Lys2029Ile) rs747575539
NM_001164508.2(NEB):c.6299G>A (p.Arg2100Gln) rs752836728
NM_001164508.2(NEB):c.6493G>A (p.Asp2165Asn) rs1234273631
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val) rs373439650
NM_001164508.2(NEB):c.6578A>G (p.Lys2193Arg) rs2099081977
NM_001164508.2(NEB):c.6583G>A (p.Ala2195Thr) rs2099081952
NM_001164508.2(NEB):c.6629A>G (p.Asn2210Ser) rs768864684
NM_001164508.2(NEB):c.662A>G (p.Tyr221Cys) rs571230045
NM_001164508.2(NEB):c.682A>T (p.Arg228Trp) rs1363435897
NM_001164508.2(NEB):c.6931G>A (p.Gly2311Ser) rs757526825
NM_001164508.2(NEB):c.6961G>A (p.Gly2321Arg) rs1575132924
NM_001164508.2(NEB):c.7135_7140del (p.Val2379_Asp2380del) rs1326831435
NM_001164508.2(NEB):c.7158T>C (p.His2386=) rs1051050497
NM_001164508.2(NEB):c.7160A>G (p.Gln2387Arg) rs2099020273
NM_001164508.2(NEB):c.7197A>C (p.Gln2399His) rs2099020027
NM_001164508.2(NEB):c.728A>G (p.Lys243Arg) rs1031592589
NM_001164508.2(NEB):c.7644A>G (p.Glu2548=) rs916950454
NM_001164508.2(NEB):c.764C>G (p.Pro255Arg) rs1553663195
NM_001164508.2(NEB):c.778C>T (p.Pro260Ser) rs1425616065
NM_001164508.2(NEB):c.7831T>C (p.Leu2611=) rs772164378
NM_001164508.2(NEB):c.7983G>T (p.Trp2661Cys) rs756956766
NM_001164508.2(NEB):c.8111A>C (p.Asp2704Ala) rs2098907855
NM_001164508.2(NEB):c.8146A>G (p.Ile2716Val) rs1574917037
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys) rs570763682
NM_001164508.2(NEB):c.8203C>G (p.His2735Asp) rs759848500
NM_001164508.2(NEB):c.8341G>T (p.Ala2781Ser) rs1160244999
NM_001164508.2(NEB):c.8434C>A (p.Arg2812Ser) rs747131655
NM_001164508.2(NEB):c.8469G>A (p.Val2823=) rs1574818802
NM_001164508.2(NEB):c.8493G>T (p.Glu2831Asp) rs2098833761
NM_001164508.2(NEB):c.8554G>T (p.Val2852Leu) rs1256097684
NM_001164508.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001164508.2(NEB):c.8659C>T (p.Arg2887Trp) rs748618562
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser) rs753718572
NM_001164508.2(NEB):c.8789A>G (p.Asp2930Gly) rs979095688
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001164508.2(NEB):c.8972T>G (p.Met2991Arg) rs539367087
NM_001164508.2(NEB):c.8994+1G>A rs2098817648
NM_001164508.2(NEB):c.9002A>G (p.Tyr3001Cys) rs1574635522
NM_001164508.2(NEB):c.9118G>A (p.Gly3040Ser) rs758739517
NM_001164508.2(NEB):c.9281G>C (p.Gly3094Ala) rs896120572
NM_001164508.2(NEB):c.9346G>A (p.Glu3116Lys) rs193042896
NM_001164508.2(NEB):c.938A>G (p.Gln313Arg) rs1559506055
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001164508.2(NEB):c.9467T>C (p.Ile3156Thr) rs145770770
NM_001164508.2(NEB):c.9479A>C (p.Asp3160Ala) rs1574428058
NM_001164508.2(NEB):c.9542A>C (p.Asp3181Ala) rs767042929
NM_001164508.2(NEB):c.955A>G (p.Met319Val) rs1269690979
NM_001164508.2(NEB):c.9619C>T (p.Arg3207Cys) rs200351671
NM_001164508.2(NEB):c.9679C>G (p.Pro3227Ala) rs778571060
NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln) rs200930670
NM_001164508.2(NEB):c.9921G>A (p.Met3307Ile) rs756185799
NM_001164508.2(NEB):c.9959A>T (p.Lys3320Met) rs373285394
NM_001164508.2(NEB):c.9972G>T (p.Lys3324Asn) rs747709979
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1040dup (p.Ala348fs) rs1603441848
NM_001953.5(TYMP):c.1217C>A (p.Ala406Asp) rs2069353068
NM_001953.5(TYMP):c.1219G>C (p.Gly407Arg) rs863224254
NM_001953.5(TYMP):c.1225A>G (p.Ser409Gly) rs2069352300
NM_001953.5(TYMP):c.1273G>A (p.Val425Ile) rs2069348232
NM_001953.5(TYMP):c.131G>C (p.Arg44Pro) rs28931613
NM_001953.5(TYMP):c.1321C>T (p.His441Tyr) rs781153870
NM_001953.5(TYMP):c.135C>T (p.Asp45=) rs1035604323
NM_001953.5(TYMP):c.1439C>G (p.Pro480Arg) rs863224256
NM_001953.5(TYMP):c.194G>A (p.Ser65Asn) rs570047465
NM_001953.5(TYMP):c.402G>C (p.Ala134=) rs747718279
NM_001953.5(TYMP):c.418-7C>T rs2069479747
NM_001953.5(TYMP):c.516+2T>A rs797044454
NM_001953.5(TYMP):c.647-6C>G rs1323542953
NM_001953.5(TYMP):c.910G>A (p.Asp304Asn) rs570438867
NM_004553.6(NDUFS6):c.67C>T (p.Leu23=) rs1014264454
NM_024120.5(NDUFAF5):c.114C>A (p.Ser38Arg) rs369277594
NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[5] rs749228752
NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly) rs768566143
NM_024120.5(NDUFAF5):c.92C>T (p.Ser31Phe) rs375461797
NM_025215.6(PUS1):c.1065G>A (p.Pro355=) rs147555676
NM_025215.6(PUS1):c.110C>G (p.Pro37Arg) rs561744467
NM_025215.6(PUS1):c.190C>T (p.His64Tyr) rs770669291
NM_025215.6(PUS1):c.454dup (p.Ala152fs) rs1555268564
NM_025215.6(PUS1):c.737A>G (p.His246Arg) rs1891063731

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