ClinVar Miner

List of variants studied for autosomal recessive degenerative and progressive cerebellar ataxia

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 624
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HGVS dbSNP gnomAD frequency
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90284
NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala) rs17855830 0.63679
NM_014053.4(FLVCR1):c.*1151A>G rs6682947 0.60512
NM_014053.4(FLVCR1):c.*339T>G rs12074192 0.60505
NM_014053.4(FLVCR1):c.*1609A>G rs12405742 0.59824
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_014053.4(FLVCR1):c.-86C>T rs2201603 0.45780
NM_014053.4(FLVCR1):c.*2813G>A rs1284854 0.45117
NM_014053.4(FLVCR1):c.*2578G>A rs1284856 0.42748
NM_014053.4(FLVCR1):c.*2709T>C rs1284855 0.42731
NM_014053.4(FLVCR1):c.*2419G>A rs10864027 0.41090
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_014053.4(FLVCR1):c.*1826C>T rs12567976 0.38865
NM_014053.4(FLVCR1):c.*1793C>T rs12567975 0.38742
NM_017791.3(FLVCR2):c.648C>G (p.Ser216=) rs2287017 0.37676
NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala) rs2287015 0.37653
NM_014053.4(FLVCR1):c.*788C>T rs6670064 0.36556
NM_014053.4(FLVCR1):c.*626T>A rs11582817 0.36511
NM_017791.3(FLVCR2):c.-96T>C rs11845734 0.36446
NM_021830.5(TWNK):c.-605G>T rs3740484 0.35155
NM_021830.5(TWNK):c.*766A>T rs3740488 0.28823
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_014053.4(FLVCR1):c.*844T>C rs12565125 0.22460
NM_014053.4(FLVCR1):c.*931C>T rs12567713 0.21766
NM_014053.4(FLVCR1):c.1307+19T>A rs2291772 0.21660
NM_014053.4(FLVCR1):c.*1106C>T rs12567728 0.21651
NM_014053.4(FLVCR1):c.*673G>A rs41301027 0.21642
NM_014053.4(FLVCR1):c.1593+9T>C rs17019870 0.21623
NM_014053.4(FLVCR1):c.*2968G>A rs10902 0.21622
NM_014053.4(FLVCR1):c.*2908G>A rs1284853 0.21097
NM_014053.4(FLVCR1):c.*3313G>T rs15903 0.21069
NM_004715.5(CTDP1):c.978G>A (p.Thr326=) rs599554 0.20817
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=) rs2126082 0.18278
NM_017791.3(FLVCR2):c.376C>T (p.Leu126=) rs8011292 0.17455
NM_014053.4(FLVCR1):c.*1600G>A rs55793082 0.16870
NM_014053.4(FLVCR1):c.*1940G>A rs6697126 0.08778
NM_017791.3(FLVCR2):c.-71C>T rs11849590 0.08526
NM_014053.4(FLVCR1):c.*353A>G rs6679775 0.08452
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08029
NM_022464.5(SIL1):c.-6C>G rs11555154 0.06144
NM_014053.4(FLVCR1):c.*1566A>T rs113327053 0.05268
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_014053.4(FLVCR1):c.*1751C>T rs187971996 0.02794
NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=) rs17677416 0.02755
NM_014053.4(FLVCR1):c.*377T>C rs41258034 0.02608
NM_022464.5(SIL1):c.1029+6T>C rs57028146 0.02536
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln) rs61745568 0.02524
NM_014053.4(FLVCR1):c.*891A>G rs41301029 0.02342
NM_014053.4(FLVCR1):c.*855T>C rs564661630 0.01999
NM_017791.3(FLVCR2):c.*991T>C rs117346030 0.01931
NM_017791.3(FLVCR2):c.*1040C>T rs8017131 0.01752
NM_017791.3(FLVCR2):c.1441G>A (p.Ala481Thr) rs35126362 0.01730
NM_014053.4(FLVCR1):c.-156del rs373452417 0.01681
NM_004715.5(CTDP1):c.492+7C>T rs115851227 0.01593
NM_017791.3(FLVCR2):c.*1098C>A rs8017287 0.01484
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01328
NM_014053.4(FLVCR1):c.*2059T>C rs6688825 0.01209
NM_017791.3(FLVCR2):c.*187T>C rs75002047 0.01000
NM_017791.3(FLVCR2):c.-111T>C rs80001297 0.00973
NM_014053.4(FLVCR1):c.*1544A>G rs6685793 0.00936
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser) rs45479302 0.00830
NM_021830.5(TWNK):c.-241C>T rs113159821 0.00734
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768 0.00706
NM_014053.4(FLVCR1):c.*2860C>A rs138737189 0.00702
NM_022464.5(SIL1):c.454-6C>T rs58624842 0.00601
NM_014053.4(FLVCR1):c.*500G>A rs41301023 0.00597
NM_017791.3(FLVCR2):c.*573C>T rs116699854 0.00556
NM_017791.3(FLVCR2):c.953-14G>A rs115200097 0.00554
NM_014053.4(FLVCR1):c.*3241C>T rs113198161 0.00493
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_017791.3(FLVCR2):c.*254T>C rs115212564 0.00463
NM_021830.5(TWNK):c.*455C>T rs148810959 0.00460
NM_021830.5(TWNK):c.-650A>G rs187213541 0.00454
NM_014053.4(FLVCR1):c.*1739C>T rs191112278 0.00444
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710 0.00413
NM_014053.4(FLVCR1):c.-87G>A rs41296692 0.00410
NM_022464.5(SIL1):c.900C>T (p.Phe300=) rs35080367 0.00410
NM_014053.4(FLVCR1):c.*1317A>G rs145011972 0.00394
NM_014053.4(FLVCR1):c.*166G>A rs41301017 0.00347
NM_014053.4(FLVCR1):c.*3032G>T rs76321605 0.00330
NM_014053.4(FLVCR1):c.*2540T>C rs79275553 0.00322
NM_022464.5(SIL1):c.152C>T (p.Thr51Ile) rs144192049 0.00310
NM_017791.3(FLVCR2):c.*756A>G rs78654241 0.00279
NM_014053.4(FLVCR1):c.*2164G>A rs143656000 0.00270
NM_021830.5(TWNK):c.*301C>T rs41291468 0.00264
NM_004715.5(CTDP1):c.2070C>T (p.Gly690=) rs145726709 0.00262
NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn) rs139175550 0.00251
NM_021830.5(TWNK):c.*419A>T rs187553791 0.00223
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251 0.00222
NM_014053.4(FLVCR1):c.*3226T>C rs114795134 0.00221
NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys) rs41297444 0.00210
NM_022464.5(SIL1):c.1030-14G>A rs184154914 0.00148
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_014053.4(FLVCR1):c.738+9T>C rs41296696 0.00133
NM_014053.4(FLVCR1):c.*1627T>G rs529311781 0.00130
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00126
NM_021830.5(TWNK):c.1735-14C>A rs201795189 0.00121
NM_022464.5(SIL1):c.865-7C>T rs141796576 0.00121
NM_017791.3(FLVCR2):c.*1517T>C rs114442666 0.00113
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg) rs149090172 0.00103
NM_014053.4(FLVCR1):c.*1300A>G rs186133334 0.00096
NM_014053.4(FLVCR1):c.*279T>C rs17019875 0.00084
NM_014053.4(FLVCR1):c.*284G>A rs41301021 0.00080
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_014053.4(FLVCR1):c.*1454G>A rs565177366 0.00070
NM_014053.4(FLVCR1):c.*32T>C rs374779364 0.00068
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) rs149887215 0.00064
NM_017791.3(FLVCR2):c.*18C>T rs369026585 0.00059
NM_014053.4(FLVCR1):c.*2443C>T rs117380165 0.00056
NM_014053.4(FLVCR1):c.*1920T>A rs115914498 0.00052
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_021830.5(TWNK):c.*709C>G rs41291470 0.00046
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00041
NM_014053.4(FLVCR1):c.*1954A>G rs567288372 0.00040
NM_021830.5(TWNK):c.*453G>A rs769950933 0.00040
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666 0.00040
NM_017791.3(FLVCR2):c.*1070T>C rs533763314 0.00039
NM_017791.3(FLVCR2):c.*1071G>T rs553617789 0.00039
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00033
NM_022464.5(SIL1):c.1161G>A (p.Ala387=) rs140171020 0.00033
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) rs149834738 0.00032
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457 0.00029
NM_017791.3(FLVCR2):c.421G>A (p.Val141Met) rs193042691 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272 0.00028
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_022464.5(SIL1):c.1206C>T (p.Gly402=) rs146164392 0.00028
NM_014053.4(FLVCR1):c.595C>T (p.Leu199Phe) rs41296694 0.00026
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_017791.3(FLVCR2):c.*910C>A rs549933844 0.00021
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072 0.00021
NM_014053.4(FLVCR1):c.*2189G>A rs183774878 0.00020
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604 0.00020
NM_017791.3(FLVCR2):c.*155C>T rs562468033 0.00019
NM_017791.3(FLVCR2):c.905C>A (p.Ala302Asp) rs183200579 0.00019
NM_022464.5(SIL1):c.192C>T (p.Ala64=) rs148651377 0.00019
NM_017791.3(FLVCR2):c.286A>G (p.Met96Val) rs199805789 0.00018
NM_022464.5(SIL1):c.310C>G (p.Leu104Val) rs150892227 0.00018
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877 0.00017
NM_017791.3(FLVCR2):c.*1633A>C rs552943781 0.00016
NM_017791.3(FLVCR2):c.953-15C>T rs188707531 0.00016
NM_022464.5(SIL1):c.424G>C (p.Ala142Pro) rs142987777 0.00016
NM_021830.5(TWNK):c.-418C>T rs750659283 0.00015
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080 0.00015
NM_014053.4(FLVCR1):c.*2409C>T rs1015419064 0.00014
NM_014053.4(FLVCR1):c.*3260T>C rs183392554 0.00014
NM_021830.5(TWNK):c.*341G>A rs1007423847 0.00014
NM_014053.4(FLVCR1):c.*569C>G rs185115842 0.00013
NM_014053.4(FLVCR1):c.*657A>G rs758210046 0.00013
NM_021830.5(TWNK):c.-290G>C rs62626270 0.00013
NM_014053.4(FLVCR1):c.*2887C>T rs186854246 0.00011
NM_014053.4(FLVCR1):c.1525+12C>T rs372644357 0.00011
NM_017791.3(FLVCR2):c.727C>T (p.Arg243Trp) rs146668840 0.00011
NM_022464.5(SIL1):c.103C>G (p.Leu35Val) rs759591537 0.00011
NM_014053.4(FLVCR1):c.*2218C>T rs886045939 0.00010
NM_017791.3(FLVCR2):c.*675A>G rs1025714059 0.00010
NM_022464.5(SIL1):c.1326C>T (p.Asp442=) rs375567857 0.00010
NM_022464.5(SIL1):c.724G>A (p.Val242Met) rs545999438 0.00010
NM_022464.5(SIL1):c.849C>T (p.Leu283=) rs372816951 0.00010
NM_014053.4(FLVCR1):c.*2480T>G rs886045941 0.00009
NM_017791.3(FLVCR2):c.*510A>G rs182904017 0.00009
NM_021830.5(TWNK):c.-470G>A rs886046626 0.00009
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_022464.5(SIL1):c.142A>C (p.Thr48Pro) rs185697854 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_022464.5(SIL1):c.993C>T (p.Arg331=) rs201009798 0.00009
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly) rs751144474 0.00008
NM_022464.5(SIL1):c.1022C>T (p.Thr341Met) rs372399027 0.00008
NM_022464.5(SIL1):c.1029+7G>A rs371041584 0.00008
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu) rs758618193 0.00006
NM_014053.4(FLVCR1):c.*114C>T rs184177347 0.00006
NM_021830.5(TWNK):c.-644A>T rs886046623 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_022464.5(SIL1):c.1030-9G>A rs370290043 0.00006
NM_014053.4(FLVCR1):c.*1422T>A rs138620842 0.00005
NM_014053.4(FLVCR1):c.*1549A>G rs1332609883 0.00005
NM_014053.4(FLVCR1):c.*3264T>C rs374214375 0.00005
NM_014053.4(FLVCR1):c.1525+13G>A rs377087497 0.00005
NM_017791.3(FLVCR2):c.766A>G (p.Ile256Val) rs559975316 0.00005
NM_022464.5(SIL1):c.1125A>G (p.Glu375=) rs149424114 0.00005
NM_000144.5(FXN):c.146C>A (p.Thr49Asn) rs995690945 0.00004
NM_000144.5(FXN):c.389G>T (p.Gly130Val) rs104894107 0.00004
NM_014053.4(FLVCR1):c.*8G>A rs886045929 0.00004
NM_014053.4(FLVCR1):c.-104G>A rs1195891357 0.00004
NM_014053.4(FLVCR1):c.-36G>A rs886045922 0.00004
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) rs1468358104 0.00004
NM_017791.3(FLVCR2):c.*1588A>C rs764448107 0.00004
NM_017791.3(FLVCR2):c.*1672G>A rs569521792 0.00004
NM_017791.3(FLVCR2):c.164C>T (p.Pro55Leu) rs372243784 0.00004
NM_021830.5(TWNK):c.*234T>G rs886046633 0.00004
NM_021830.5(TWNK):c.*438G>C rs886046634 0.00004
NM_021830.5(TWNK):c.*561C>T rs901722933 0.00004
NM_021830.5(TWNK):c.*574C>T rs886046636 0.00004
NM_021830.5(TWNK):c.-549G>A rs886046625 0.00004
NM_021830.5(TWNK):c.1572C>T (p.His524=) rs774091248 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) rs771310512 0.00004
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe) rs775046032 0.00004
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) rs767175342 0.00004
NM_021830.5(TWNK):c.672T>C (p.Ala224=) rs368863664 0.00004
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro) rs563414935 0.00004
NM_022464.5(SIL1):c.623A>C (p.Asp208Ala) rs145709743 0.00004
NM_022464.5(SIL1):c.902C>T (p.Pro301Leu) rs1478296366 0.00004
NM_014053.4(FLVCR1):c.*1174C>T rs886045936 0.00003
NM_014053.4(FLVCR1):c.*1543C>G rs1665346561 0.00003
NM_014053.4(FLVCR1):c.*1548T>C rs1572032740 0.00003
NM_014053.4(FLVCR1):c.*2371A>G rs886045940 0.00003
NM_014053.4(FLVCR1):c.*3739G>A rs865806240 0.00003
NM_014053.4(FLVCR1):c.*839T>G rs886045932 0.00003
NM_014053.4(FLVCR1):c.*923T>C rs886045935 0.00003
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter) rs538343832 0.00003
NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp) rs267606820 0.00003
NM_014053.4(FLVCR1):c.42C>T (p.Pro14=) rs886045923 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014053.4(FLVCR1):c.962A>G (p.Tyr321Cys) rs142749772 0.00003
NM_017791.3(FLVCR2):c.*1319C>T rs541678412 0.00003
NM_021830.5(TWNK):c.492C>T (p.Leu164=) rs775463083 0.00003
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln) rs761095369 0.00003
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys) rs779649580 0.00003
NM_022464.5(SIL1):c.355C>G (p.Leu119Val) rs758512287 0.00003
NM_022464.5(SIL1):c.930C>T (p.Leu310=) rs147797471 0.00003
NM_022464.5(SIL1):c.987C>T (p.Ala329=) rs758596676 0.00003
NM_004715.5(CTDP1):c.440C>T (p.Thr147Met) rs143464787 0.00002
NM_014053.3(FLVCR1):c.-181A>G rs886045921 0.00002
NM_014053.4(FLVCR1):c.1059G>A (p.Thr353=) rs550517136 0.00002
NM_014053.4(FLVCR1):c.832T>C (p.Phe278Leu) rs766483912 0.00002
NM_014053.4(FLVCR1):c.835T>A (p.Tyr279Asn) rs755239032 0.00002
NM_017791.3(FLVCR2):c.1278T>C (p.Ala426=) rs762529599 0.00002
NM_021830.5(TWNK):c.*552G>C rs111434414 0.00002
NM_021830.5(TWNK):c.*769G>A rs919556945 0.00002
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465 0.00002
NM_000144.5(FXN):c.3G>T (p.Met1Ile) rs104894108 0.00001
NM_014053.4(FLVCR1):c.*123T>C rs1355815695 0.00001
NM_014053.4(FLVCR1):c.*1738G>A rs541110364 0.00001
NM_014053.4(FLVCR1):c.*2188C>T rs552491316 0.00001
NM_014053.4(FLVCR1):c.*2954T>C rs930665650 0.00001
NM_014053.4(FLVCR1):c.*3228T>C rs886045943 0.00001
NM_014053.4(FLVCR1):c.*344T>C rs886045930 0.00001
NM_014053.4(FLVCR1):c.*665C>T rs1226910181 0.00001
NM_014053.4(FLVCR1):c.1019C>T (p.Thr340Ile) rs754655924 0.00001
NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=) rs1391075754 0.00001
NM_014053.4(FLVCR1):c.1521A>G (p.Leu507=) rs74607124 0.00001
NM_014053.4(FLVCR1):c.241C>T (p.Leu81=) rs1251133617 0.00001
NM_014053.4(FLVCR1):c.385A>G (p.Ser129Gly) rs781057835 0.00001
NM_014053.4(FLVCR1):c.82G>A (p.Gly28Ser) rs746296931 0.00001
NM_014053.4(FLVCR1):c.981C>T (p.Asn327=) rs886045928 0.00001
NM_017791.3(FLVCR2):c.*893T>C rs1890444124 0.00001
NM_017791.3(FLVCR2):c.*952T>G rs747845375 0.00001
NM_017791.3(FLVCR2):c.1157_1158del (p.Leu386fs) rs779784201 0.00001
NM_017791.3(FLVCR2):c.1474C>T (p.Arg492Trp) rs139495418 0.00001
NM_017791.3(FLVCR2):c.277T>C (p.Cys93Arg) rs767398242 0.00001
NM_017791.3(FLVCR2):c.329_334del (p.Asn110_Phe112delinsIle) rs746459536 0.00001
NM_017791.3(FLVCR2):c.604G>A (p.Ala202Thr) rs886050786 0.00001
NM_017791.3(FLVCR2):c.69G>A (p.Ala23=) rs1888525051 0.00001
NM_017791.3(FLVCR2):c.78C>A (p.Ser26Arg) rs768707435 0.00001
NM_017791.3(FLVCR2):c.839C>G (p.Pro280Arg) rs267606823 0.00001
NM_017791.3(FLVCR2):c.947C>G (p.Thr316Ser) rs779117746 0.00001
NM_021830.5(TWNK):c.*367A>G rs62626296 0.00001
NM_021830.5(TWNK):c.*619G>A rs886046637 0.00001
NM_021830.5(TWNK):c.*763T>C rs886046639 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1244-14C>T rs758757135 0.00001
NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe) rs1382315425 0.00001
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) rs80356544 0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021830.5(TWNK):c.913G>A (p.Val305Ile) rs753457416 0.00001
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr) rs80356542 0.00001
NM_022464.5(SIL1):c.1005G>A (p.Leu335=) rs751082361 0.00001
NM_022464.5(SIL1):c.1115G>A (p.Gly372Asp) rs727504153 0.00001
NM_022464.5(SIL1):c.1347G>A (p.Leu449=) rs1458642130 0.00001
NM_022464.5(SIL1):c.599A>G (p.Glu200Gly) rs879437180 0.00001
NM_022464.5(SIL1):c.648G>C (p.Met216Ile) rs538181924 0.00001
NM_022464.5(SIL1):c.69C>T (p.Ala23=) rs756893810 0.00001
NM_022464.5(SIL1):c.741G>A (p.Ala247=) rs773520401 0.00001
NM_022464.5(SIL1):c.795C>T (p.Ile265=) rs746589509 0.00001
NM_022464.5(SIL1):c.807C>T (p.Ala269=) rs200359743 0.00001
NG_008845.2:g.6725GAA[(200_900)]
NG_008845.2:g.6743_6746delinsGAAGGA[66]GAAG
NM_000144.5(FXN):c.157del (p.Arg53fs) rs141935559
NM_000144.5(FXN):c.165+1338AAG[180] rs193922938
NM_000144.5(FXN):c.166-5T>G rs2133102338
NM_000144.5(FXN):c.317T>G (p.Leu106Ter) rs104894105
NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr) rs886037630
NM_000144.5(FXN):c.385-2A>G rs140987490
NM_000144.5(FXN):c.438C>G (p.Asn146Lys) rs146818694
NM_000144.5(FXN):c.460A>T (p.Ile154Phe) rs104894106
NM_000144.5(FXN):c.517T>G (p.Trp173Gly) rs56214919
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=) rs2086667654
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_014053.3(FLVCR1):c.*4085_*4086delTT rs148146820
NM_014053.4(FLVCR1):c.*1021A>G rs551356467
NM_014053.4(FLVCR1):c.*1246T>C rs1665339009
NM_014053.4(FLVCR1):c.*1880TAAA[10] rs141272551
NM_014053.4(FLVCR1):c.*1880TAAA[7] rs141272551
NM_014053.4(FLVCR1):c.*1880TAAA[9] rs141272551
NM_014053.4(FLVCR1):c.*1952C>A rs886045938
NM_014053.4(FLVCR1):c.*2061CA[11] rs139242973
NM_014053.4(FLVCR1):c.*2061CA[12] rs139242973
NM_014053.4(FLVCR1):c.*2061CA[13] rs139242973
NM_014053.4(FLVCR1):c.*2061CA[20] rs139242973
NM_014053.4(FLVCR1):c.*2495C>T rs1665380437
NM_014053.4(FLVCR1):c.*2591G>C rs904043805
NM_014053.4(FLVCR1):c.*2672_*2673del rs557446640
NM_014053.4(FLVCR1):c.*2704T>G rs1665384723
NM_014053.4(FLVCR1):c.*2949G>A rs756936130
NM_014053.4(FLVCR1):c.*3127_*3128insGATA rs1553266731
NM_014053.4(FLVCR1):c.*3129A>T rs202125545
NM_014053.4(FLVCR1):c.*3130_*3131insAATT rs10655434
NM_014053.4(FLVCR1):c.*326T>C rs1665314385
NM_014053.4(FLVCR1):c.*3337G>C rs1665402320
NM_014053.4(FLVCR1):c.*3482C>G rs12142813
NM_014053.4(FLVCR1):c.*3598G>C rs886045944
NM_014053.4(FLVCR1):c.*3756C>T rs1175866801
NM_014053.4(FLVCR1):c.*384T>C rs886045931
NM_014053.4(FLVCR1):c.*422G>A rs1665316878
NM_014053.4(FLVCR1):c.*740T>G rs1665325309
NM_014053.4(FLVCR1):c.*785C>T rs1665326608
NM_014053.4(FLVCR1):c.*838CT[2] rs549002753
NM_014053.4(FLVCR1):c.*847T>C rs1665329642
NM_014053.4(FLVCR1):c.*855del rs752835859
NM_014053.4(FLVCR1):c.*855dup rs752835859
NM_014053.4(FLVCR1):c.-154G>T rs554048351
NM_014053.4(FLVCR1):c.-166G>C rs1664078764
NM_014053.4(FLVCR1):c.-168C>G rs1572000804
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala) rs775587493
NM_014053.4(FLVCR1):c.1394T>G (p.Leu465Arg) rs1665115556
NM_014053.4(FLVCR1):c.1413+82TTG[6] rs41300975
NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg) rs1558121050
NM_014053.4(FLVCR1):c.1516A>T (p.Ile506Leu) rs1665131014
NM_014053.4(FLVCR1):c.1594-13_1594-10dup rs41301015
NM_014053.4(FLVCR1):c.236C>T (p.Ala79Val) rs767746826
NM_014053.4(FLVCR1):c.270C>A (p.Thr90=) rs534403116
NM_014053.4(FLVCR1):c.375G>A (p.Trp125Ter)
NM_014053.4(FLVCR1):c.51G>C (p.Pro17=) rs886045924
NM_014053.4(FLVCR1):c.534G>C (p.Leu178=) rs886045925
NM_014053.4(FLVCR1):c.611T>G (p.Met204Arg) rs886045926
NM_014053.4(FLVCR1):c.641A>G (p.Gln214Arg)
NM_014053.4(FLVCR1):c.673G>A (p.Ala225Thr)
NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr) rs267606819
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_014053.4(FLVCR1):c.779T>C (p.Val260Ala) rs1664320715
NM_014053.4(FLVCR1):c.782C>T (p.Pro261Leu) rs886045927
NM_014053.4(FLVCR1):c.886T>G (p.Phe296Val) rs1294845921
NM_014889.4(PITRM1):c.2236-1dup rs2132393459
NM_017791.3(FLVCR2):c.*1003G>A rs549464206
NM_017791.3(FLVCR2):c.*1322G>A rs1566800405
NM_017791.3(FLVCR2):c.*1613C>T rs1890460668
NM_017791.3(FLVCR2):c.*379T>C rs886050789
NM_017791.3(FLVCR2):c.*513A>G rs1890435742
NM_017791.3(FLVCR2):c.*517C>T rs188459017
NM_017791.3(FLVCR2):c.*644G>A rs1890438951
NM_017791.3(FLVCR2):c.*856T>C rs1890443552
NM_017791.3(FLVCR2):c.*98T>C rs886050788
NM_017791.3(FLVCR2):c.1326C>T (p.Leu442=) rs886050787
NM_017791.3(FLVCR2):c.1580G>T (p.Ter527Leu) rs1566799791
NM_017791.3(FLVCR2):c.1581A>C (p.Ter527Cys) rs1566799795
NM_017791.3(FLVCR2):c.360C>G (p.Ala120=) rs906645811
NM_017791.3(FLVCR2):c.543G>A (p.Val181=) rs2287016
NM_017791.3(FLVCR2):c.669+8G>C rs769337002
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His) rs757778790
NM_021830.5(TWNK):c.*248G>A rs1851850715
NM_021830.5(TWNK):c.*346A>C rs1851852761
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.-304G>A rs200599543
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-584G>C rs1564806518
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-622C>T rs993449080
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) rs28937887
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) rs758026634
NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu) rs781016340
NM_021830.5(TWNK):c.1287C>T (p.Ala429=) rs80356541
NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys) rs1366090807
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) rs1590020571
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) rs753386843
NM_021830.5(TWNK):c.1729_1732del (p.Ala577fs)
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) rs1274226715
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) rs1426435572
NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser) rs1851842282
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) rs386834147
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.333del (p.Leu112fs) rs886037832
NM_021830.5(TWNK):c.49del (p.Leu17fs) rs779142717
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) rs1564807938
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) rs764669712
NM_021954.4(GJA3):c.56C>T (p.Thr19Met) rs1114167307
NM_022464.5(SIL1):c.*105C>T
NM_022464.5(SIL1):c.*265C>G
NM_022464.5(SIL1):c.*30C>T
NM_022464.5(SIL1):c.*349T>C
NM_022464.5(SIL1):c.*68del
NM_022464.5(SIL1):c.*80G>C
NM_022464.5(SIL1):c.-10-18951A>G
NM_022464.5(SIL1):c.-106G>C
NM_022464.5(SIL1):c.-11+21922C>T
NM_022464.5(SIL1):c.-1T>C
NM_022464.5(SIL1):c.-29C>G
NM_022464.5(SIL1):c.-92T>A
NM_022464.5(SIL1):c.-94G>C
NM_022464.5(SIL1):c.-98C>T
NM_022464.5(SIL1):c.1007T>C (p.Leu336Pro)
NM_022464.5(SIL1):c.1008C>G (p.Leu336=)
NM_022464.5(SIL1):c.1010A>G (p.Tyr337Cys)
NM_022464.5(SIL1):c.1011C>T (p.Tyr337=)
NM_022464.5(SIL1):c.1012G>A (p.Asp338Asn)
NM_022464.5(SIL1):c.1017G>C (p.Leu339=) rs769587333
NM_022464.5(SIL1):c.1023G>A (p.Thr341=)
NM_022464.5(SIL1):c.1025_1027delAGA (p.Lys343del)
NM_022464.5(SIL1):c.1029+12_1029+17del
NM_022464.5(SIL1):c.1029+14C>T
NM_022464.5(SIL1):c.1029+15C>T
NM_022464.5(SIL1):c.1029+1G>A
NM_022464.5(SIL1):c.1029G>A (p.Lys343=)
NM_022464.5(SIL1):c.1030-10C>T
NM_022464.5(SIL1):c.1030-18G>A
NM_022464.5(SIL1):c.1030-6T>G
NM_022464.5(SIL1):c.1030-9G>T
NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)
NM_022464.5(SIL1):c.1035del (p.Phe345fs)
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr) rs377150029
NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)
NM_022464.5(SIL1):c.1038C>T (p.Ala346=)
NM_022464.5(SIL1):c.1038del (p.Glu347fs)
NM_022464.5(SIL1):c.105+20A>G
NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter)
NM_022464.5(SIL1):c.1066A>G (p.Met356Val)
NM_022464.5(SIL1):c.1071C>T (p.Ser357=)
NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)
NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
NM_022464.5(SIL1):c.1095C>T (p.Arg365=)
NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)
NM_022464.5(SIL1):c.1117del (p.Leu373fs)
NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg) rs1021273983
NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys)
NM_022464.5(SIL1):c.1138G>A (p.Glu380Lys)
NM_022464.5(SIL1):c.1145C>T (p.Thr382Met)
NM_022464.5(SIL1):c.1146G>A (p.Thr382=)
NM_022464.5(SIL1):c.1156C>T (p.Leu386=)
NM_022464.5(SIL1):c.115G>T (p.Ala39Ser)
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)
NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)
NM_022464.5(SIL1):c.1218C>A (p.Thr406=)
NM_022464.5(SIL1):c.1218C>T (p.Thr406=)
NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)
NM_022464.5(SIL1):c.1231C>T (p.Arg411Cys)
NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
NM_022464.5(SIL1):c.1238G>T (p.Arg413Leu)
NM_022464.5(SIL1):c.1247C>A (p.Pro416His)
NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser) rs398124389
NM_022464.5(SIL1):c.125A>C (p.Asn42Thr)
NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala)
NM_022464.5(SIL1):c.1263A>G (p.Thr421=) rs1157233880
NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser)
NM_022464.5(SIL1):c.1286A>T (p.Tyr429Phe)
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter) rs119456966
NM_022464.5(SIL1):c.1316A>G (p.Asp439Gly)
NM_022464.5(SIL1):c.1317T>C (p.Asp439=)
NM_022464.5(SIL1):c.1321G>T (p.Glu441Ter)
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.1330G>T (p.Gly444Cys)
NM_022464.5(SIL1):c.1331G>T (p.Gly444Val)
NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)
NM_022464.5(SIL1):c.135G>A (p.Lys45=)
NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn)
NM_022464.5(SIL1):c.1368G>A (p.Leu456=)
NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)
NM_022464.5(SIL1):c.1380G>C (p.Leu460=)
NM_022464.5(SIL1):c.152_153inv (p.Thr51Met)
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
NM_022464.5(SIL1):c.164A>G (p.Glu55Gly)
NM_022464.5(SIL1):c.166A>G (p.Thr56Ala)
NM_022464.5(SIL1):c.175G>A (p.Glu59Lys)
NM_022464.5(SIL1):c.181G>A (p.Glu61Lys)
NM_022464.5(SIL1):c.185T>A (p.Leu62Gln)
NM_022464.5(SIL1):c.191C>T (p.Ala64Val)
NM_022464.5(SIL1):c.193G>A (p.Glu65Lys)
NM_022464.5(SIL1):c.195_217del (p.Glu65fs)
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
NM_022464.5(SIL1):c.199C>T (p.Leu67=)
NM_022464.5(SIL1):c.1A>G (p.Met1Val) rs573588795
NM_022464.5(SIL1):c.205G>A (p.Val69Met)
NM_022464.5(SIL1):c.211C>T (p.His71Tyr)
NM_022464.5(SIL1):c.212dup (p.His71fs)
NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)
NM_022464.5(SIL1):c.216G>A (p.Pro72=)
NM_022464.5(SIL1):c.218C>T (p.Thr73Met)
NM_022464.5(SIL1):c.219G>A (p.Thr73=)
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
NM_022464.5(SIL1):c.238C>A (p.Gln80Lys)
NM_022464.5(SIL1):c.244+11del
NM_022464.5(SIL1):c.244+17T>C
NM_022464.5(SIL1):c.244+8G>A
NM_022464.5(SIL1):c.245-15C>A
NM_022464.5(SIL1):c.255C>T (p.Val85=)
NM_022464.5(SIL1):c.261A>G (p.Ala87=)
NM_022464.5(SIL1):c.267C>A (p.Ser89=)
NM_022464.5(SIL1):c.271G>A (p.Val91Ile)
NM_022464.5(SIL1):c.275G>A (p.Arg92Gln)
NM_022464.5(SIL1):c.276G>A (p.Arg92=)
NM_022464.5(SIL1):c.31A>G (p.Met11Val)
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
NM_022464.5(SIL1):c.348C>G (p.Gly116=)
NM_022464.5(SIL1):c.353+12A>G
NM_022464.5(SIL1):c.353+19G>A
NM_022464.5(SIL1):c.353+1G>T
NM_022464.5(SIL1):c.354-3C>A
NM_022464.5(SIL1):c.355C>T (p.Leu119=)
NM_022464.5(SIL1):c.388G>A (p.Asp130Asn)
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
NM_022464.5(SIL1):c.432G>T (p.Met144Ile)
NM_022464.5(SIL1):c.435G>C (p.Glu145Asp)
NM_022464.5(SIL1):c.453+14T>C
NM_022464.5(SIL1):c.454-10C>G
NM_022464.5(SIL1):c.454-8C>T
NM_022464.5(SIL1):c.458G>C (p.Arg153Thr)
NM_022464.5(SIL1):c.46A>C (p.Met16Leu)
NM_022464.5(SIL1):c.471A>T (p.Val157=)
NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)
NM_022464.5(SIL1):c.476G>A (p.Arg159Gln)
NM_022464.5(SIL1):c.477G>C (p.Arg159=)
NM_022464.5(SIL1):c.484C>T (p.Arg162Cys)
NM_022464.5(SIL1):c.487C>A (p.Pro163Thr)
NM_022464.5(SIL1):c.487C>T (p.Pro163Ser)
NM_022464.5(SIL1):c.506_509dup (p.Asp170fs)
NM_022464.5(SIL1):c.516T>C (p.Asp172=)
NM_022464.5(SIL1):c.526G>T (p.Val176Phe)
NM_022464.5(SIL1):c.550A>G (p.Ile184Val)
NM_022464.5(SIL1):c.554T>C (p.Met185Thr)
NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)
NM_022464.5(SIL1):c.570C>G (p.Asn190Lys)
NM_022464.5(SIL1):c.585C>T (p.Ser195=)
NM_022464.5(SIL1):c.599A>C (p.Glu200Ala)
NM_022464.5(SIL1):c.59T>C (p.Leu20Pro)
NM_022464.5(SIL1):c.603_607del (p.Glu201fs)
NM_022464.5(SIL1):c.614C>T (p.Ala205Val)
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
NM_022464.5(SIL1):c.618C>T (p.Leu206=)
NM_022464.5(SIL1):c.624T>A (p.Asp208Glu)
NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys)
NM_022464.5(SIL1):c.63G>A (p.Leu21=)
NM_022464.5(SIL1):c.643_645+21del
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
NM_022464.5(SIL1):c.645+15C>T
NM_022464.5(SIL1):c.645+16G>A
NM_022464.5(SIL1):c.645+16G>T
NM_022464.5(SIL1):c.645+1G>A
NM_022464.5(SIL1):c.645+2T>C
NM_022464.5(SIL1):c.653A>G (p.Asn218Ser)
NM_022464.5(SIL1):c.666G>T (p.Leu222=)
NM_022464.5(SIL1):c.670T>A (p.Ser224Thr)
NM_022464.5(SIL1):c.674T>C (p.Phe225Ser)
NM_022464.5(SIL1):c.685dup (p.Gln229fs)
NM_022464.5(SIL1):c.694A>G (p.Ile232Val)
NM_022464.5(SIL1):c.697A>G (p.Asn233Asp)
NM_022464.5(SIL1):c.698A>G (p.Asn233Ser)
NM_022464.5(SIL1):c.714A>G (p.Thr238=) rs1581036406
NM_022464.5(SIL1):c.729G>A (p.Lys243=)
NM_022464.5(SIL1):c.72C>T (p.Ala24=)
NM_022464.5(SIL1):c.753C>T (p.Gly251=)
NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)
NM_022464.5(SIL1):c.766A>G (p.Ser256Gly)
NM_022464.5(SIL1):c.767+18C>T
NM_022464.5(SIL1):c.767+19G>A
NM_022464.5(SIL1):c.767+1G>A
NM_022464.5(SIL1):c.768-15G>T
NM_022464.5(SIL1):c.773C>T (p.Pro258Leu)
NM_022464.5(SIL1):c.810G>A (p.Leu270=) rs1244661386
NM_022464.5(SIL1):c.815A>G (p.Lys272Arg)
NM_022464.5(SIL1):c.819G>A (p.Leu273=) rs778802859
NM_022464.5(SIL1):c.829C>T (p.Leu277=)
NM_022464.5(SIL1):c.82T>C (p.Phe28Leu)
NM_022464.5(SIL1):c.836C>T (p.Thr279Met) rs535287958
NM_022464.5(SIL1):c.837G>A (p.Thr279=)
NM_022464.5(SIL1):c.845C>T (p.Pro282Leu)
NM_022464.5(SIL1):c.846G>A (p.Pro282=)
NM_022464.5(SIL1):c.846G>C (p.Pro282=)
NM_022464.5(SIL1):c.864+11A>C
NM_022464.5(SIL1):c.864+14C>A
NM_022464.5(SIL1):c.864+20C>G
NM_022464.5(SIL1):c.865-14G>T
NM_022464.5(SIL1):c.88del (p.Leu30fs)
NM_022464.5(SIL1):c.907G>A (p.Ala303Thr)
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
NM_022464.5(SIL1):c.914G>A (p.Arg305Gln)
NM_022464.5(SIL1):c.91A>G (p.Ser31Gly)
NM_022464.5(SIL1):c.921C>T (p.Phe307=)
NM_022464.5(SIL1):c.931G>A (p.Gly311Arg)
NM_022464.5(SIL1):c.936del (p.Leu313fs)
NM_022464.5(SIL1):c.936dup (p.Leu313fs)
NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)
NM_022464.5(SIL1):c.945C>A (p.Val315=)
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
NM_022464.5(SIL1):c.975G>A (p.Thr325=) rs1187845475
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)
NM_022464.5(SIL1):c.986C>G (p.Ala329Gly)
NM_022464.5(SIL1):c.988G>A (p.Val330Met)
NM_022464.5(SIL1):c.9C>G (p.Pro3=)
NM_022464.5:c.454-6721_768-23561del
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
NR_002717.2(ATXN8OS):n.1103CTG[15_40]

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