ClinVar Miner

List of variants in gene MTO1 studied for Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 627
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HGVS dbSNP gnomAD frequency
NM_012123.4(MTO1):c.1180T>C (p.Leu394=) rs2036039 0.20359
NM_012123.4(MTO1):c.1918-7T>G rs73452515 0.04248
NM_012123.4(MTO1):c.1894C>T (p.Leu632=) rs117757245 0.00506
NM_012123.4(MTO1):c.1368T>C (p.Thr456=) rs115654622 0.00454
NM_012123.4(MTO1):c.1086C>G (p.Ile362Met) rs147329295 0.00309
NM_012123.4(MTO1):c.1051A>G (p.Met351Val) rs144075994 0.00261
NM_012123.4(MTO1):c.620C>T (p.Thr207Met) rs139334277 0.00255
NM_012123.4(MTO1):c.922A>G (p.Thr308Ala) rs145043138 0.00200
NM_012123.4(MTO1):c.1549G>A (p.Val517Met) rs139608228 0.00155
NM_012123.4(MTO1):c.1082T>C (p.Met361Thr) rs145658455 0.00086
NM_012123.4(MTO1):c.176G>C (p.Gly59Ala) rs201279883 0.00085
NM_012123.4(MTO1):c.1129+246G>A rs118010902 0.00049
NM_012123.4(MTO1):c.1996C>T (p.Arg666Ter) rs200217371 0.00036
NM_012123.4(MTO1):c.1637+16A>G rs201990339 0.00034
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686 0.00028
NM_012123.4(MTO1):c.49A>G (p.Lys17Glu) rs145625396 0.00026
NM_012123.4(MTO1):c.1137T>C (p.Gly379=) rs141477592 0.00016
NM_012123.4(MTO1):c.1940C>T (p.Pro647Leu) rs151330992 0.00016
NM_012123.4(MTO1):c.1147G>A (p.Asp383Asn) rs145163085 0.00015
NM_012123.4(MTO1):c.691G>C (p.Val231Leu) rs150037981 0.00014
NM_012123.4(MTO1):c.726A>G (p.Arg242=) rs754401804 0.00014
NM_012123.4(MTO1):c.1667T>C (p.Val556Ala) rs185347132 0.00011
NM_012123.4(MTO1):c.868A>G (p.Arg290Gly) rs573039001 0.00011
NM_012123.4(MTO1):c.939-13T>C rs371809371 0.00011
NM_012123.4(MTO1):c.1480G>A (p.Gly494Ser) rs139449947 0.00010
NM_012123.4(MTO1):c.1501T>C (p.Tyr501His) rs143378575 0.00010
NM_012123.4(MTO1):c.2011A>G (p.Met671Val) rs374410917 0.00010
NM_012123.4(MTO1):c.2006C>T (p.Ser669Leu) rs377512595 0.00008
NM_012123.4(MTO1):c.2044T>C (p.Cys682Arg) rs140592470 0.00008
NM_012123.4(MTO1):c.961A>G (p.Lys321Glu) rs148667065 0.00008
NM_012123.4(MTO1):c.1324C>T (p.Arg442Ter) rs200583827 0.00007
NM_012123.4(MTO1):c.418-6T>C rs752852300 0.00007
NM_012123.4(MTO1):c.992A>G (p.Gln331Arg) rs151280054 0.00007
NM_012123.4(MTO1):c.1281C>T (p.Asn427=) rs372077081 0.00006
NM_012123.4(MTO1):c.1918-11T>C rs760795915 0.00006
NM_012123.4(MTO1):c.307A>G (p.Ile103Val) rs574980280 0.00006
NM_012123.4(MTO1):c.429G>A (p.Leu143=) rs763318672 0.00006
NM_012123.4(MTO1):c.547A>G (p.Thr183Ala) rs779108851 0.00006
NM_012123.4(MTO1):c.742A>G (p.Ile248Val) rs139801695 0.00006
NM_012123.4(MTO1):c.970C>T (p.Arg324Cys) rs759192206 0.00006
NM_012123.4(MTO1):c.983G>A (p.Arg328His) rs142148270 0.00006
NM_012123.4(MTO1):c.1031T>C (p.Ile344Thr) rs373659157 0.00005
NM_012123.4(MTO1):c.1306C>T (p.Pro436Ser) rs144134827 0.00005
NM_012123.4(MTO1):c.1334G>T (p.Gly445Val) rs202008685 0.00005
NM_012123.4(MTO1):c.520A>G (p.Ser174Gly) rs564804488 0.00005
NM_012123.4(MTO1):c.1058T>C (p.Leu353Pro) rs373065217 0.00004
NM_012123.4(MTO1):c.1163G>A (p.Arg388His) rs947813456 0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004
NM_012123.4(MTO1):c.1222A>G (p.Ile408Val) rs149407452 0.00004
NM_012123.4(MTO1):c.1235C>T (p.Thr412Ile) rs943998709 0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539 0.00004
NM_012123.4(MTO1):c.1609A>G (p.Ile537Val) rs149727324 0.00004
NM_012123.4(MTO1):c.1696C>G (p.Pro566Ala) rs139647877 0.00004
NM_012123.4(MTO1):c.1846T>C (p.Tyr616His) rs751088619 0.00004
NM_012123.4(MTO1):c.1917+12G>A rs183977797 0.00004
NM_012123.4(MTO1):c.1917+17G>A rs372865741 0.00004
NM_012123.4(MTO1):c.1967A>G (p.Asn656Ser) rs759983774 0.00004
NM_012123.4(MTO1):c.253G>A (p.Gly85Arg) rs1054967842 0.00004
NM_012123.4(MTO1):c.552A>G (p.Val184=) rs746213747 0.00004
NM_012123.4(MTO1):c.593G>C (p.Arg198Thr) rs139496338 0.00004
NM_012123.4(MTO1):c.623A>G (p.His208Arg) rs560308812 0.00004
NM_012123.4(MTO1):c.78C>G (p.Ser26Arg) rs924867881 0.00004
NM_012123.4(MTO1):c.97C>T (p.Arg33Trp) rs769059204 0.00004
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_012123.4(MTO1):c.1465+4A>T rs555094677 0.00003
NM_012123.4(MTO1):c.1594A>G (p.Ile532Val) rs1327925744 0.00003
NM_012123.4(MTO1):c.1633G>A (p.Val545Ile) rs764677221 0.00003
NM_012123.4(MTO1):c.1717A>T (p.Thr573Ser) rs774500449 0.00003
NM_012123.4(MTO1):c.1902T>C (p.Phe634=) rs567020916 0.00003
NM_012123.4(MTO1):c.1957G>A (p.Ala653Thr) rs749086310 0.00003
NM_012123.4(MTO1):c.24C>T (p.Gly8=) rs773306512 0.00003
NM_012123.4(MTO1):c.258G>A (p.Lys86=) rs777174074 0.00003
NM_012123.4(MTO1):c.514C>T (p.Arg172Cys) rs370046018 0.00003
NM_012123.4(MTO1):c.693G>T (p.Val231=) rs558715877 0.00003
NM_012123.4(MTO1):c.806A>G (p.Asn269Ser) rs76335462 0.00003
NM_012123.4(MTO1):c.830A>G (p.Glu277Gly) rs368675393 0.00003
NM_012123.4(MTO1):c.94C>T (p.Pro32Ser) rs372395838 0.00003
NM_012123.4(MTO1):c.976C>G (p.Pro326Ala) rs1012000476 0.00003
NM_012123.4(MTO1):c.1026C>T (p.Asp342=) rs780123184 0.00002
NM_012123.4(MTO1):c.1055C>T (p.Thr352Met) rs775003861 0.00002
NM_012123.4(MTO1):c.1129+13A>G rs199879600 0.00002
NM_012123.4(MTO1):c.1172C>G (p.Thr391Ser) rs377702561 0.00002
NM_012123.4(MTO1):c.1260+17T>G rs780859448 0.00002
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847 0.00002
NM_012123.4(MTO1):c.1335T>C (p.Gly445=) rs539098813 0.00002
NM_012123.4(MTO1):c.1340T>C (p.Ile447Thr) rs755027057 0.00002
NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys) rs1459252796 0.00002
NM_012123.4(MTO1):c.1391G>A (p.Arg464His) rs141970072 0.00002
NM_012123.4(MTO1):c.1418G>A (p.Arg473His) rs1472294844 0.00002
NM_012123.4(MTO1):c.1462C>T (p.Arg488Ter) rs771939280 0.00002
NM_012123.4(MTO1):c.146C>T (p.Thr49Ile) rs753822562 0.00002
NM_012123.4(MTO1):c.1650T>C (p.Val550=) rs755205490 0.00002
NM_012123.4(MTO1):c.1702C>G (p.Pro568Ala) rs200759516 0.00002
NM_012123.4(MTO1):c.1917G>A (p.Thr639=) rs142253409 0.00002
NM_012123.4(MTO1):c.1956C>T (p.Ala652=) rs777048417 0.00002
NM_012123.4(MTO1):c.1995A>G (p.Gln665=) rs146878659 0.00002
NM_012123.4(MTO1):c.210C>T (p.Asp70=) rs138494495 0.00002
NM_012123.4(MTO1):c.252C>T (p.Ile84=) rs374384468 0.00002
NM_012123.4(MTO1):c.286T>A (p.Leu96Met) rs145131490 0.00002
NM_012123.4(MTO1):c.313G>A (p.Asp105Asn) rs1008930519 0.00002
NM_012123.4(MTO1):c.339A>G (p.Val113=) rs776394925 0.00002
NM_012123.4(MTO1):c.553T>C (p.Tyr185His) rs772474195 0.00002
NM_012123.4(MTO1):c.634C>T (p.Arg212Cys) rs147346536 0.00002
NM_012123.4(MTO1):c.687G>T (p.Gly229=) rs748233496 0.00002
NM_012123.4(MTO1):c.774G>A (p.Pro258=) rs748667460 0.00002
NM_012123.4(MTO1):c.951C>A (p.Ser317=) rs777680736 0.00002
NM_012123.4(MTO1):c.969G>A (p.Leu323=) rs752977187 0.00002
NM_012123.4(MTO1):c.1044G>T (p.Gly348=) rs770890953 0.00001
NM_012123.4(MTO1):c.1056G>A (p.Thr352=) rs200078197 0.00001
NM_012123.4(MTO1):c.1067A>C (p.Glu356Ala) rs921979740 0.00001
NM_012123.4(MTO1):c.1123C>G (p.Gln375Glu) rs753603538 0.00001
NM_012123.4(MTO1):c.1129+14C>G rs757783161 0.00001
NM_012123.4(MTO1):c.1129+9G>T rs377448878 0.00001
NM_012123.4(MTO1):c.1134C>T (p.Tyr378=) rs779895347 0.00001
NM_012123.4(MTO1):c.1152C>T (p.Tyr384=) rs747803200 0.00001
NM_012123.4(MTO1):c.1194G>T (p.Leu398Phe) rs772209676 0.00001
NM_012123.4(MTO1):c.1226A>G (p.Asn409Ser) rs767029283 0.00001
NM_012123.4(MTO1):c.1261-5T>G rs1275100093 0.00001
NM_012123.4(MTO1):c.1261-9C>T rs1771508479 0.00001
NM_012123.4(MTO1):c.1272C>T (p.Ala424=) rs184320231 0.00001
NM_012123.4(MTO1):c.1273G>A (p.Gly425Arg) rs779264207 0.00001
NM_012123.4(MTO1):c.1284C>T (p.Ala428=) rs1771510990 0.00001
NM_012123.4(MTO1):c.1291C>T (p.Arg431Trp) rs748328322 0.00001
NM_012123.4(MTO1):c.1292G>A (p.Arg431Gln) rs367815963 0.00001
NM_012123.4(MTO1):c.1300C>T (p.Arg434Cys) rs535420006 0.00001
NM_012123.4(MTO1):c.1301G>A (p.Arg434His) rs775350046 0.00001
NM_012123.4(MTO1):c.1312T>C (p.Phe438Leu) rs753473168 0.00001
NM_012123.4(MTO1):c.1339A>G (p.Ile447Val) rs747475822 0.00001
NM_012123.4(MTO1):c.1367C>G (p.Thr456Ser) rs1771517793 0.00001
NM_012123.4(MTO1):c.1389C>T (p.Tyr463=) rs747803452 0.00001
NM_012123.4(MTO1):c.139G>A (p.Ala47Thr) rs1049905319 0.00001
NM_012123.4(MTO1):c.1401C>T (p.Thr467=) rs761354670 0.00001
NM_012123.4(MTO1):c.1405C>T (p.Arg469Ter) rs764848745 0.00001
NM_012123.4(MTO1):c.1463G>A (p.Arg488Gln) rs552919722 0.00001
NM_012123.4(MTO1):c.1466-11C>T rs1177539865 0.00001
NM_012123.4(MTO1):c.1498C>T (p.Arg500Ter) rs372842922 0.00001
NM_012123.4(MTO1):c.1510G>A (p.Ala504Thr) rs761290955 0.00001
NM_012123.4(MTO1):c.1515T>C (p.Cys505=) rs986939142 0.00001
NM_012123.4(MTO1):c.1541G>C (p.Gly514Ala) rs1392884488 0.00001
NM_012123.4(MTO1):c.1599A>G (p.Pro533=) rs1167772743 0.00001
NM_012123.4(MTO1):c.1616C>T (p.Thr539Ile) rs770538630 0.00001
NM_012123.4(MTO1):c.1626T>C (p.Ser542=) rs759376061 0.00001
NM_012123.4(MTO1):c.1638-12A>G rs762987532 0.00001
NM_012123.4(MTO1):c.1642C>G (p.Leu548Val) rs755838326 0.00001
NM_012123.4(MTO1):c.1757C>G (p.Ala586Gly) rs749806427 0.00001
NM_012123.4(MTO1):c.175G>T (p.Gly59Cys) rs376887969 0.00001
NM_012123.4(MTO1):c.187C>G (p.Leu63Val) rs371275324 0.00001
NM_012123.4(MTO1):c.1885C>T (p.Arg629Ter) rs752295415 0.00001
NM_012123.4(MTO1):c.1918-20C>T rs1227268741 0.00001
NM_012123.4(MTO1):c.1929T>A (p.Ala643=) rs779392966 0.00001
NM_012123.4(MTO1):c.192C>T (p.Leu64=) rs749354721 0.00001
NM_012123.4(MTO1):c.1933C>A (p.Arg645Ser) rs746382157 0.00001
NM_012123.4(MTO1):c.1934G>A (p.Arg645His) rs758448974 0.00001
NM_012123.4(MTO1):c.2002C>T (p.Gln668Ter) rs1235728877 0.00001
NM_012123.4(MTO1):c.2004G>A (p.Gln668=) rs1274349883 0.00001
NM_012123.4(MTO1):c.2007G>A (p.Ser669=) rs760282169 0.00001
NM_012123.4(MTO1):c.2036A>G (p.Gln679Arg) rs1418465267 0.00001
NM_012123.4(MTO1):c.2056A>G (p.Arg686Gly) rs780656358 0.00001
NM_012123.4(MTO1):c.2064A>G (p.Gln688=) rs372208655 0.00001
NM_012123.4(MTO1):c.2071G>C (p.Glu691Gln) rs748394297 0.00001
NM_012123.4(MTO1):c.2077T>C (p.Ter693Gln) rs770798772 0.00001
NM_012123.4(MTO1):c.208G>A (p.Asp70Asn) rs1346321637 0.00001
NM_012123.4(MTO1):c.218-8_218-6del rs776822646 0.00001
NM_012123.4(MTO1):c.228A>G (p.Ser76=) rs1770981132 0.00001
NM_012123.4(MTO1):c.304C>T (p.Arg102Cys) rs201570582 0.00001
NM_012123.4(MTO1):c.346C>T (p.Arg116Trp) rs770260720 0.00001
NM_012123.4(MTO1):c.347G>A (p.Arg116Gln) rs148202739 0.00001
NM_012123.4(MTO1):c.37G>A (p.Val13Ile) rs866899975 0.00001
NM_012123.4(MTO1):c.386T>C (p.Ile129Thr) rs1201307484 0.00001
NM_012123.4(MTO1):c.405A>G (p.Lys135=) rs1170291540 0.00001
NM_012123.4(MTO1):c.417+2T>C rs1030161382 0.00001
NM_012123.4(MTO1):c.433A>G (p.Thr145Ala) rs747033959 0.00001
NM_012123.4(MTO1):c.448G>C (p.Val150Leu) rs767983065 0.00001
NM_012123.4(MTO1):c.476T>C (p.Ile159Thr) rs1184680964 0.00001
NM_012123.4(MTO1):c.521G>A (p.Ser174Asn) rs200547196 0.00001
NM_012123.4(MTO1):c.526G>A (p.Val176Ile) rs1009189949 0.00001
NM_012123.4(MTO1):c.535+5G>A rs1405997705 0.00001
NM_012123.4(MTO1):c.556G>A (p.Ala186Thr) rs780534174 0.00001
NM_012123.4(MTO1):c.561G>C (p.Glu187Asp) rs1168041486 0.00001
NM_012123.4(MTO1):c.621G>A (p.Thr207=) rs763650850 0.00001
NM_012123.4(MTO1):c.635G>A (p.Arg212His) rs750101940 0.00001
NM_012123.4(MTO1):c.656T>C (p.Ile219Thr) rs747465085 0.00001
NM_012123.4(MTO1):c.70C>T (p.Arg24Trp) rs368723563 0.00001
NM_012123.4(MTO1):c.731C>T (p.Ala244Val) rs761373532 0.00001
NM_012123.4(MTO1):c.736G>C (p.Glu246Gln) rs750020202 0.00001
NM_012123.4(MTO1):c.764A>G (p.Lys255Arg) rs1279483238 0.00001
NM_012123.4(MTO1):c.768T>C (p.His256=) rs781712108 0.00001
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu) rs1025884753 0.00001
NM_012123.4(MTO1):c.82G>A (p.Asp28Asn) rs780242649 0.00001
NM_012123.4(MTO1):c.840G>A (p.Leu280=) rs749351702 0.00001
NM_012123.4(MTO1):c.933A>G (p.Gly311=) rs1264684764 0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032 0.00001
NM_012123.4(MTO1):c.939-7A>T rs769685212 0.00001
NM_012123.4(MTO1):c.956A>G (p.Glu319Gly) rs376396609 0.00001
NM_012123.4(MTO1):c.96C>T (p.Pro32=) rs938648582 0.00001
NM_012123.4(MTO1):c.988C>T (p.His330Tyr) rs544282554 0.00001
NC_000006.11:g.(?_74171578)_(74171814_?)del
NC_000006.11:g.(?_74171578)_(74171814_?)dup
NC_000006.11:g.(?_74171578)_(74192363_?)del
NC_000006.11:g.(?_74171578)_(74202095_?)dup
NC_000006.11:g.(?_74171578)_(74210458_?)del
NC_000006.11:g.(?_74175912)_(74176349_?)dup
NC_000006.11:g.(?_74175912)_(74183397_?)del
NC_000006.11:g.(?_74183068)_(74183397_?)del
NC_000006.11:g.(?_74183068)_(74183397_?)dup
NC_000006.11:g.(?_74183068)_(74210458_?)dup
NC_000006.11:g.(?_74189435)_(74192363_?)del
NC_000006.11:g.(?_74189435)_(74207639_?)del
NC_000006.11:g.(?_74191743)_(74192363_?)dup
NC_000006.11:g.(?_74201937)_(74210458_?)del
NC_000006.11:g.(?_74207439)_(74210458_?)del
NC_000006.12:g.(?_73461845)_(73462081_?)dup
NM_012123.4(MTO1):c.*7A>G
NM_012123.4(MTO1):c.-4C>T
NM_012123.4(MTO1):c.1000T>A (p.Leu334Met)
NM_012123.4(MTO1):c.1002G>A (p.Leu334=) rs2150035828
NM_012123.4(MTO1):c.1013G>A (p.Gly338Glu) rs1771440211
NM_012123.4(MTO1):c.103C>G (p.Pro35Ala)
NM_012123.4(MTO1):c.1044G>A (p.Gly348=)
NM_012123.4(MTO1):c.1046T>C (p.Leu349Ser)
NM_012123.4(MTO1):c.1047A>G (p.Leu349=)
NM_012123.4(MTO1):c.104C>T (p.Pro35Leu) rs777113004
NM_012123.4(MTO1):c.1059A>G (p.Leu353=) rs201656868
NM_012123.4(MTO1):c.105G>A (p.Pro35=)
NM_012123.4(MTO1):c.1062A>C (p.Pro354=) rs1060504378
NM_012123.4(MTO1):c.1066G>A (p.Glu356Lys) rs1012440521
NM_012123.4(MTO1):c.1089A>C (p.Thr363=)
NM_012123.4(MTO1):c.108C>G (p.His36Gln) rs1454178328
NM_012123.4(MTO1):c.1090T>A (p.Cys364Ser) rs755211627
NM_012123.4(MTO1):c.1091G>A (p.Cys364Tyr) rs2150035920
NM_012123.4(MTO1):c.10T>C (p.Phe4Leu)
NM_012123.4(MTO1):c.1100G>T (p.Gly367Val) rs1771444030
NM_012123.4(MTO1):c.1104G>A (p.Leu368=)
NM_012123.4(MTO1):c.1107G>A (p.Glu369=)
NM_012123.4(MTO1):c.1117G>A (p.Val373Met)
NM_012123.4(MTO1):c.111C>T (p.Phe37=)
NM_012123.4(MTO1):c.1126C>A (p.Pro376Thr)
NM_012123.4(MTO1):c.1129+12C>T rs778706192
NM_012123.4(MTO1):c.1129+13A>C
NM_012123.4(MTO1):c.1129+15A>G
NM_012123.4(MTO1):c.1129+17G>A
NM_012123.4(MTO1):c.1129+209C>T
NM_012123.4(MTO1):c.1129+8_1129+10del rs758510777
NM_012123.4(MTO1):c.1130-20T>C
NM_012123.4(MTO1):c.1135G>A (p.Gly379Ser) rs746493463
NM_012123.4(MTO1):c.1136del (p.Gly379fs)
NM_012123.4(MTO1):c.1141C>G (p.Gln381Glu) rs1771463297
NM_012123.4(MTO1):c.114C>T (p.Asp38=)
NM_012123.4(MTO1):c.115G>A (p.Val39Met) rs766653154
NM_012123.4(MTO1):c.1160C>T (p.Pro387Leu)
NM_012123.4(MTO1):c.1170C>T (p.Ile390=)
NM_012123.4(MTO1):c.1177T>C (p.Ser393Pro) rs1172201357
NM_012123.4(MTO1):c.1178C>T (p.Ser393Phe)
NM_012123.4(MTO1):c.1189C>A (p.His397Asn) rs1771465246
NM_012123.4(MTO1):c.1198C>G (p.Gln400Glu)
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
NM_012123.4(MTO1):c.1225A>G (p.Asn409Asp)
NM_012123.4(MTO1):c.122T>G (p.Val41Gly) rs1770831602
NM_012123.4(MTO1):c.1230C>T (p.Gly410=) rs2150036324
NM_012123.4(MTO1):c.1232C>T (p.Thr411Ile) rs398122419
NM_012123.4(MTO1):c.123C>G (p.Val41=)
NM_012123.4(MTO1):c.1246del (p.Glu416fs) rs1250411982
NM_012123.4(MTO1):c.1257T>C (p.Ala419=)
NM_012123.4(MTO1):c.1260+191G>A rs1241914180
NM_012123.4(MTO1):c.1260+193C>A rs1554149118
NM_012123.4(MTO1):c.1260+9_1260+13del rs935181583
NM_012123.4(MTO1):c.1261-12G>A
NM_012123.4(MTO1):c.1261-12G>T
NM_012123.4(MTO1):c.1261-18A>G
NM_012123.4(MTO1):c.1261-4G>C
NM_012123.4(MTO1):c.1268T>C (p.Ile423Thr)
NM_012123.4(MTO1):c.1274del (p.Gly425fs)
NM_012123.4(MTO1):c.1287T>C (p.Ser429=)
NM_012123.4(MTO1):c.1288C>G (p.Leu430Val) rs2150037092
NM_012123.4(MTO1):c.128G>T (p.Gly43Val) rs2150024439
NM_012123.4(MTO1):c.1290T>C (p.Leu430=) rs148227552
NM_012123.4(MTO1):c.1293G>A (p.Arg431=)
NM_012123.4(MTO1):c.1294G>A (p.Val432Ile) rs774315947
NM_012123.4(MTO1):c.1298G>A (p.Ser433Asn)
NM_012123.4(MTO1):c.1299T>C (p.Ser433=)
NM_012123.4(MTO1):c.129T>C (p.Gly43=)
NM_012123.4(MTO1):c.12C>T (p.Phe4=)
NM_012123.4(MTO1):c.1311C>G (p.Pro437=) rs763521200
NM_012123.4(MTO1):c.1314T>C (p.Phe438=) rs2150037121
NM_012123.4(MTO1):c.1317G>C (p.Val439=)
NM_012123.4(MTO1):c.1323C>T (p.Ser441=)
NM_012123.4(MTO1):c.1327A>T (p.Thr443Ser)
NM_012123.4(MTO1):c.1347C>G (p.Val449=)
NM_012123.4(MTO1):c.1353T>C (p.Ile451=) rs557440944
NM_012123.4(MTO1):c.1353T>G (p.Ile451Met)
NM_012123.4(MTO1):c.135A>G (p.Gly45=)
NM_012123.4(MTO1):c.1362C>T (p.Leu454=)
NM_012123.4(MTO1):c.1372G>A (p.Gly458Ser)
NM_012123.4(MTO1):c.137dup (p.His46fs)
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu) rs141970072
NM_012123.4(MTO1):c.1393A>G (p.Met465Val) rs1000432861
NM_012123.4(MTO1):c.1406G>A (p.Arg469Gln) rs750141214
NM_012123.4(MTO1):c.1413G>T (p.Glu471Asp)
NM_012123.4(MTO1):c.1417C>T (p.Arg473Cys)
NM_012123.4(MTO1):c.1421dup (p.Leu474fs)
NM_012123.4(MTO1):c.1429C>T (p.Arg477Cys) rs1033653237
NM_012123.4(MTO1):c.142G>A (p.Gly48Arg)
NM_012123.4(MTO1):c.1431C>T (p.Arg477=)
NM_012123.4(MTO1):c.1434T>C (p.Pro478=)
NM_012123.4(MTO1):c.1436A>G (p.Asp479Gly)
NM_012123.4(MTO1):c.1440T>C (p.Asn480=)
NM_012123.4(MTO1):c.1443T>C (p.Ala481=) rs2150037243
NM_012123.4(MTO1):c.1446C>G (p.Asp482Glu) rs2150037248
NM_012123.4(MTO1):c.1451G>A (p.Arg484Gln)
NM_012123.4(MTO1):c.1455C>T (p.Leu485=)
NM_012123.4(MTO1):c.1458A>G (p.Thr486=) rs1771522951
NM_012123.4(MTO1):c.1459C>T (p.Leu487=)
NM_012123.4(MTO1):c.1465+15A>T
NM_012123.4(MTO1):c.1465+18C>T
NM_012123.4(MTO1):c.1465+19C>T
NM_012123.4(MTO1):c.1466-10C>G
NM_012123.4(MTO1):c.1466-12T>G
NM_012123.4(MTO1):c.1466-17C>T
NM_012123.4(MTO1):c.1466-17_1466-16del rs751535994
NM_012123.4(MTO1):c.1466-4C>G
NM_012123.4(MTO1):c.1466-6C>G
NM_012123.4(MTO1):c.146C>G (p.Thr49Ser) rs753822562
NM_012123.4(MTO1):c.1477G>A (p.Ala493Thr)
NM_012123.4(MTO1):c.147T>C (p.Thr49=)
NM_012123.4(MTO1):c.1483T>C (p.Cys495Arg)
NM_012123.4(MTO1):c.1485T>C (p.Cys495=)
NM_012123.4(MTO1):c.1491C>T (p.Ser497=)
NM_012123.4(MTO1):c.1493A>G (p.Gln498Arg)
NM_012123.4(MTO1):c.1495C>T (p.Gln499Ter)
NM_012123.4(MTO1):c.1497A>G (p.Gln499=)
NM_012123.4(MTO1):c.1499G>A (p.Arg500Gln) rs770464521
NM_012123.4(MTO1):c.1499G>C (p.Arg500Pro)
NM_012123.4(MTO1):c.1503T>C (p.Tyr501=)
NM_012123.4(MTO1):c.1504G>A (p.Glu502Lys)
NM_012123.4(MTO1):c.1512T>A (p.Ala504=)
NM_012123.4(MTO1):c.152C>T (p.Ala51Val)
NM_012123.4(MTO1):c.1533_1536del (p.Glu512fs)
NM_012123.4(MTO1):c.153_174del (p.Thr53fs) rs1770832882
NM_012123.4(MTO1):c.1548T>C (p.Ser516=)
NM_012123.4(MTO1):c.1561A>G (p.Ile521Val)
NM_012123.4(MTO1):c.1563T>G (p.Ile521Met) rs2150037480
NM_012123.4(MTO1):c.1566G>A (p.Glu522=)
NM_012123.4(MTO1):c.1570T>C (p.Leu524=)
NM_012123.4(MTO1):c.1574G>C (p.Ser525Thr)
NM_012123.4(MTO1):c.1585A>C (p.Lys529Gln)
NM_012123.4(MTO1):c.1591T>A (p.Leu531Ile)
NM_012123.4(MTO1):c.159C>G (p.Thr53=) rs761813265
NM_012123.4(MTO1):c.159C>T (p.Thr53=)
NM_012123.4(MTO1):c.1616C>A (p.Thr539Asn)
NM_012123.4(MTO1):c.1619G>A (p.Ser540Asn) rs773811434
NM_012123.4(MTO1):c.1619G>T (p.Ser540Ile) rs773811434
NM_012123.4(MTO1):c.1621A>G (p.Arg541Gly)
NM_012123.4(MTO1):c.1629G>T (p.Leu543=)
NM_012123.4(MTO1):c.1637+14A>G
NM_012123.4(MTO1):c.1637+3A>G
NM_012123.4(MTO1):c.1637G>C (p.Arg546Thr)
NM_012123.4(MTO1):c.1638-10A>G
NM_012123.4(MTO1):c.1638-14T>C
NM_012123.4(MTO1):c.1638-15_1638-14del
NM_012123.4(MTO1):c.1638-16T>G
NM_012123.4(MTO1):c.1638-20A>C
NM_012123.4(MTO1):c.1639G>A (p.Ala547Thr) rs1771829402
NM_012123.4(MTO1):c.1640C>T (p.Ala547Val) rs751843868
NM_012123.4(MTO1):c.1643dup (p.Asp549fs)
NM_012123.4(MTO1):c.1644C>G (p.Leu548=)
NM_012123.4(MTO1):c.1644C>T (p.Leu548=)
NM_012123.4(MTO1):c.1645G>A (p.Asp549Asn)
NM_012123.4(MTO1):c.1648_1650dup (p.Val550dup) rs2150042260
NM_012123.4(MTO1):c.1658A>G (p.Tyr553Cys)
NM_012123.4(MTO1):c.165C>G (p.Ala55=)
NM_012123.4(MTO1):c.166G>A (p.Ala56Thr) rs1770833571
NM_012123.4(MTO1):c.1672A>G (p.Met558Val)
NM_012123.4(MTO1):c.1676A>G (p.Asp559Gly)
NM_012123.4(MTO1):c.1680A>C (p.Ser560=) rs1215865193
NM_012123.4(MTO1):c.1680A>G (p.Ser560=)
NM_012123.4(MTO1):c.1687A>G (p.Lys563Glu) rs577810557
NM_012123.4(MTO1):c.1692del (p.Val565fs) rs2150042284
NM_012123.4(MTO1):c.1720A>G (p.Lys574Glu) rs2150042299
NM_012123.4(MTO1):c.1725T>G (p.Cys575Trp) rs1771835062
NM_012123.4(MTO1):c.1750dup (p.Ile584fs) rs2150042308
NM_012123.4(MTO1):c.1756+16del rs1305339840
NM_012123.4(MTO1):c.1756+17G>A rs1393237455
NM_012123.4(MTO1):c.1756+19C>T
NM_012123.4(MTO1):c.1756+2T>C
NM_012123.4(MTO1):c.1756+5A>T
NM_012123.4(MTO1):c.1757-11T>C
NM_012123.4(MTO1):c.1757-14A>T
NM_012123.4(MTO1):c.1757-20A>T
NM_012123.4(MTO1):c.1759A>G (p.Thr587Ala)
NM_012123.4(MTO1):c.1777T>C (p.Phe593Leu) rs2150044944
NM_012123.4(MTO1):c.1780C>T (p.His594Tyr) rs2150044948
NM_012123.4(MTO1):c.1789C>T (p.Gln597Ter) rs2150044955
NM_012123.4(MTO1):c.1790A>C (p.Gln597Pro) rs2150044958
NM_012123.4(MTO1):c.1791A>G (p.Gln597=)
NM_012123.4(MTO1):c.1799A>G (p.Lys600Arg)
NM_012123.4(MTO1):c.1814A>G (p.Asp605Gly)
NM_012123.4(MTO1):c.1815T>C (p.Asp605=)
NM_012123.4(MTO1):c.1822del (p.Leu608fs) rs1561954433
NM_012123.4(MTO1):c.1827A>G (p.Gln609=) rs1554150837
NM_012123.4(MTO1):c.1833A>C (p.Pro611=)
NM_012123.4(MTO1):c.183G>T (p.Arg61=) rs1582666277
NM_012123.4(MTO1):c.1840C>G (p.Leu614Val)
NM_012123.4(MTO1):c.1840C>T (p.Leu614=) rs2150044988
NM_012123.4(MTO1):c.1848T>G (p.Tyr616Ter) rs2150044996
NM_012123.4(MTO1):c.1849T>A (p.Leu617Met)
NM_012123.4(MTO1):c.1849T>G (p.Leu617Val)
NM_012123.4(MTO1):c.1858dup (p.Arg620fs) rs397518449
NM_012123.4(MTO1):c.1860G>A (p.Arg620=)
NM_012123.4(MTO1):c.1866G>C (p.Val622=)
NM_012123.4(MTO1):c.1868C>T (p.Ser623Phe) rs1772032922
NM_012123.4(MTO1):c.187C>T (p.Leu63=)
NM_012123.4(MTO1):c.1882G>A (p.Val628Ile) rs1772033614
NM_012123.4(MTO1):c.1886G>T (p.Arg629Leu) rs894440027
NM_012123.4(MTO1):c.1896del (p.His633fs) rs2150045040
NM_012123.4(MTO1):c.1906C>T (p.Arg636Cys) rs1582701948
NM_012123.4(MTO1):c.1907G>A (p.Arg636His) rs751695333
NM_012123.4(MTO1):c.1910C>T (p.Pro637Leu)
NM_012123.4(MTO1):c.1911A>C (p.Pro637=)
NM_012123.4(MTO1):c.1911A>G (p.Pro637=)
NM_012123.4(MTO1):c.1916C>T (p.Thr639Met)
NM_012123.4(MTO1):c.1917+10T>C
NM_012123.4(MTO1):c.1917+11A>G rs2150045068
NM_012123.4(MTO1):c.1917+17_1917+19del rs760158320
NM_012123.4(MTO1):c.1917+2_1917+3insGAGAAAGTACATTTTAGTCGTCCACAGACGGT rs1207289132
NM_012123.4(MTO1):c.1918-14G>T rs2150046222
NM_012123.4(MTO1):c.1918-15_1918-13del rs2150046218
NM_012123.4(MTO1):c.1918-19T>C rs1554151114
NM_012123.4(MTO1):c.1918-20del
NM_012123.4(MTO1):c.1918-6_1918-5insCTAAAT
NM_012123.4(MTO1):c.1920C>G (p.Ile640Met) rs201198672
NM_012123.4(MTO1):c.1920C>T (p.Ile640=)
NM_012123.4(MTO1):c.1926T>A (p.Ala642=)
NM_012123.4(MTO1):c.1941C>T (p.Pro647=)
NM_012123.4(MTO1):c.1942G>A (p.Gly648Arg)
NM_012123.4(MTO1):c.1943G>A (p.Gly648Glu)
NM_012123.4(MTO1):c.1949C>T (p.Thr650Ile)
NM_012123.4(MTO1):c.1963A>G (p.Ile655Val)
NM_012123.4(MTO1):c.1966A>C (p.Asn656His)
NM_012123.4(MTO1):c.1986G>A (p.Lys662=)
NM_012123.4(MTO1):c.1989C>T (p.Thr663=)
NM_012123.4(MTO1):c.1994A>G (p.Gln665Arg)
NM_012123.4(MTO1):c.1997G>A (p.Arg666Gln)
NM_012123.4(MTO1):c.1997G>C (p.Arg666Pro) rs1772134598
NM_012123.4(MTO1):c.1999A>C (p.Arg667=)
NM_012123.4(MTO1):c.2026A>G (p.Lys676Glu)
NM_012123.4(MTO1):c.202C>T (p.Arg68Cys)
NM_012123.4(MTO1):c.2035C>G (p.Gln679Glu) rs927196297
NM_012123.4(MTO1):c.2038T>C (p.Tyr680His)
NM_012123.4(MTO1):c.203G>A (p.Arg68His) rs1251952926
NM_012123.4(MTO1):c.2062_2067del (p.Gln688_Glu689del)
NM_012123.4(MTO1):c.2064dup (p.Glu689fs)
NM_012123.4(MTO1):c.2065G>A (p.Glu689Lys)
NM_012123.4(MTO1):c.2070_2073del (p.Arg690fs)
NM_012123.4(MTO1):c.2072_2073del (p.Glu691fs) rs759445569
NM_012123.4(MTO1):c.216C>G (p.Ile72Met)
NM_012123.4(MTO1):c.216C>T (p.Ile72=)
NM_012123.4(MTO1):c.217+19G>A
NM_012123.4(MTO1):c.217+20T>G
NM_012123.4(MTO1):c.218-11A>G rs1403769450
NM_012123.4(MTO1):c.218-13C>A
NM_012123.4(MTO1):c.218-14T>G
NM_012123.4(MTO1):c.218-15G>T
NM_012123.4(MTO1):c.218-16_218-15insA
NM_012123.4(MTO1):c.223A>G (p.Met75Val)
NM_012123.4(MTO1):c.22G>T (p.Gly8Cys) rs2150024316
NM_012123.4(MTO1):c.235C>A (p.Pro79Thr) rs2150027197
NM_012123.4(MTO1):c.238T>C (p.Ser80Pro) rs1408974756
NM_012123.4(MTO1):c.239_242del (p.Ser80fs)
NM_012123.4(MTO1):c.240C>T (p.Ser80=)
NM_012123.4(MTO1):c.242T>G (p.Phe81Cys)
NM_012123.4(MTO1):c.25C>G (p.Arg9Gly) rs763245762
NM_012123.4(MTO1):c.260G>A (p.Gly87Glu) rs751029705
NM_012123.4(MTO1):c.270G>A (p.Met90Ile)
NM_012123.4(MTO1):c.273G>A (p.Arg91=)
NM_012123.4(MTO1):c.276A>G (p.Glu92=) rs755181300
NM_012123.4(MTO1):c.277del (p.Glu92_Val93insTer)
NM_012123.4(MTO1):c.27T>C (p.Arg9=) rs1327873376
NM_012123.4(MTO1):c.282T>C (p.Asp94=)
NM_012123.4(MTO1):c.285C>T (p.Ala95=)
NM_012123.4(MTO1):c.300T>C (p.Cys100=)
NM_012123.4(MTO1):c.301T>C (p.Ser101Pro) rs1235731820
NM_012123.4(MTO1):c.305G>A (p.Arg102His)
NM_012123.4(MTO1):c.312T>C (p.Cys104=)
NM_012123.4(MTO1):c.332A>G (p.Tyr111Cys)
NM_012123.4(MTO1):c.33C>T (p.Val11=) rs1430945976
NM_012123.4(MTO1):c.344del (p.Asn115fs) rs1297994959
NM_012123.4(MTO1):c.345C>G (p.Asn115Lys)
NM_012123.4(MTO1):c.366G>A (p.Val122=)
NM_012123.4(MTO1):c.36G>T (p.Ala12=)
NM_012123.4(MTO1):c.375G>A (p.Leu125=)
NM_012123.4(MTO1):c.377G>C (p.Arg126Thr)
NM_012123.4(MTO1):c.384G>A (p.Gln128=)
NM_012123.4(MTO1):c.38T>C (p.Val13Ala)
NM_012123.4(MTO1):c.390T>C (p.Asp130=)
NM_012123.4(MTO1):c.392G>A (p.Arg131Lys)
NM_012123.4(MTO1):c.399C>G (p.Leu133=) rs994257546
NM_012123.4(MTO1):c.402_403del (p.Tyr134_Lys135delinsTer) rs769532203
NM_012123.4(MTO1):c.408G>A (p.Gln136=)
NM_012123.4(MTO1):c.413T>C (p.Met138Thr)
NM_012123.4(MTO1):c.413del (p.Met138fs)
NM_012123.4(MTO1):c.416A>C (p.Gln139Pro)
NM_012123.4(MTO1):c.417+12G>C
NM_012123.4(MTO1):c.417+14A>G
NM_012123.4(MTO1):c.417+17A>G
NM_012123.4(MTO1):c.417+7A>C
NM_012123.4(MTO1):c.417+7A>G rs199515593
NM_012123.4(MTO1):c.417+8T>C rs1367881712
NM_012123.4(MTO1):c.417+8T>G rs1367881712
NM_012123.4(MTO1):c.418-13T>A
NM_012123.4(MTO1):c.418-15A>G rs2150027379
NM_012123.4(MTO1):c.429_444del (p.Asn144fs) rs2150027394
NM_012123.4(MTO1):c.447T>G (p.Thr149=)
NM_012123.4(MTO1):c.451C>G (p.Gln151Glu)
NM_012123.4(MTO1):c.453G>A (p.Gln151=)
NM_012123.4(MTO1):c.458G>A (p.Gly153Glu)
NM_012123.4(MTO1):c.45C>T (p.Phe15=)
NM_012123.4(MTO1):c.464T>C (p.Val155Ala)
NM_012123.4(MTO1):c.469G>T (p.Asp157Tyr)
NM_012123.4(MTO1):c.478_480del (p.Leu160del) rs761485089
NM_012123.4(MTO1):c.496G>A (p.Glu166Lys) rs989384303
NM_012123.4(MTO1):c.49A>C (p.Lys17Gln)
NM_012123.4(MTO1):c.502A>T (p.Thr168Ser)
NM_012123.4(MTO1):c.515G>A (p.Arg172His)
NM_012123.4(MTO1):c.515G>C (p.Arg172Pro)
NM_012123.4(MTO1):c.525_526del (p.Val176fs)
NM_012123.4(MTO1):c.530T>C (p.Val177Ala) rs1771005240
NM_012123.4(MTO1):c.535+17G>A
NM_012123.4(MTO1):c.535+1G>A
NM_012123.4(MTO1):c.535+4C>T
NM_012123.4(MTO1):c.535+5G>T rs1405997705
NM_012123.4(MTO1):c.536-10T>G
NM_012123.4(MTO1):c.536-11T>G
NM_012123.4(MTO1):c.536-19_536-18del rs2150031332
NM_012123.4(MTO1):c.536-3dup
NM_012123.4(MTO1):c.536-4T>G
NM_012123.4(MTO1):c.536-9G>A
NM_012123.4(MTO1):c.549A>C (p.Thr183=)
NM_012123.4(MTO1):c.567_569del (p.Ile190del)
NM_012123.4(MTO1):c.598A>C (p.Met200Leu)
NM_012123.4(MTO1):c.59T>C (p.Phe20Ser) rs1770828389
NM_012123.4(MTO1):c.605T>C (p.Val202Ala) rs1206431304
NM_012123.4(MTO1):c.60_61delinsAA (p.Phe20_Pro21delinsLeuThr) rs2150024353
NM_012123.4(MTO1):c.612A>C (p.Gly204=)
NM_012123.4(MTO1):c.613T>C (p.Leu205=) rs1464415140
NM_012123.4(MTO1):c.61C>G (p.Pro21Ala) rs753873871
NM_012123.4(MTO1):c.61C>T (p.Pro21Ser) rs753873871
NM_012123.4(MTO1):c.620C>G (p.Thr207Arg)
NM_012123.4(MTO1):c.621G>T (p.Thr207=)
NM_012123.4(MTO1):c.630A>G (p.Ala210=) rs2150031442
NM_012123.4(MTO1):c.639A>C (p.Leu213Phe)
NM_012123.4(MTO1):c.641G>A (p.Gly214Glu)
NM_012123.4(MTO1):c.648G>C (p.Gln216His)
NM_012123.4(MTO1):c.648del (p.Gln216fs)
NM_012123.4(MTO1):c.652T>C (p.Ser218Pro)
NM_012123.4(MTO1):c.660A>G (p.Gly220=)
NM_012123.4(MTO1):c.666T>C (p.Ala222=)
NM_012123.4(MTO1):c.667C>G (p.Gln223Glu)
NM_012123.4(MTO1):c.667C>T (p.Gln223Ter) rs2150031480
NM_012123.4(MTO1):c.672A>G (p.Thr224=)
NM_012123.4(MTO1):c.674T>G (p.Leu225Arg) rs1327928200
NM_012123.4(MTO1):c.681G>A (p.Lys227=) rs781586985
NM_012123.4(MTO1):c.681G>T (p.Lys227Asn) rs781586985
NM_012123.4(MTO1):c.694G>T (p.Val232Leu)
NM_012123.4(MTO1):c.708G>A (p.Lys236=)
NM_012123.4(MTO1):c.718C>T (p.Pro240Ser) rs1192411843
NM_012123.4(MTO1):c.71G>A (p.Arg24Gln) rs200417760
NM_012123.4(MTO1):c.724del (p.Arg242fs)
NM_012123.4(MTO1):c.725G>A (p.Arg242Gln)
NM_012123.4(MTO1):c.734_735del (p.Lys245fs) rs755954353
NM_012123.4(MTO1):c.762C>T (p.Asn254=) rs1771216320
NM_012123.4(MTO1):c.765G>C (p.Lys255Asn)
NM_012123.4(MTO1):c.767A>G (p.His256Arg) rs1771216675
NM_012123.4(MTO1):c.773C>T (p.Pro258Leu) rs868497455
NM_012123.4(MTO1):c.774G>T (p.Pro258=) rs748667460
NM_012123.4(MTO1):c.783A>G (p.Pro261=)
NM_012123.4(MTO1):c.79A>T (p.Ser27Cys) rs1240435216
NM_012123.4(MTO1):c.80G>T (p.Ser27Ile) rs2150024378
NM_012123.4(MTO1):c.813A>G (p.Thr271=)
NM_012123.4(MTO1):c.818G>C (p.Trp273Ser) rs2150031602
NM_012123.4(MTO1):c.825+10_825+29del rs1177694932
NM_012123.4(MTO1):c.825+11T>C
NM_012123.4(MTO1):c.825+14C>T
NM_012123.4(MTO1):c.826-10T>C
NM_012123.4(MTO1):c.828A>G (p.Pro276=)
NM_012123.4(MTO1):c.83A>C (p.Asp28Ala) rs1770829413
NM_012123.4(MTO1):c.840G>T (p.Leu280=) rs749351702
NM_012123.4(MTO1):c.846T>C (p.Cys282=)
NM_012123.4(MTO1):c.850T>C (p.Leu284=)
NM_012123.4(MTO1):c.85A>T (p.Ser29Cys) rs2150024386
NM_012123.4(MTO1):c.862A>C (p.Asn288His)
NM_012123.4(MTO1):c.874G>A (p.Asp292Asn)
NM_012123.4(MTO1):c.882T>A (p.Ile294=)
NM_012123.4(MTO1):c.886C>T (p.Leu296Phe)
NM_012123.4(MTO1):c.89_90dup (p.Ala31fs)
NM_012123.4(MTO1):c.8A>C (p.Tyr3Ser)
NM_012123.4(MTO1):c.8A>G (p.Tyr3Cys)
NM_012123.4(MTO1):c.901C>T (p.Leu301Phe)
NM_012123.4(MTO1):c.911A>C (p.His304Pro) rs1771433572
NM_012123.4(MTO1):c.913G>A (p.Val305Ile) rs1457365776
NM_012123.4(MTO1):c.917A>G (p.Lys306Arg) rs1582684383
NM_012123.4(MTO1):c.919G>A (p.Glu307Lys) rs138469662
NM_012123.4(MTO1):c.923C>T (p.Thr308Met)
NM_012123.4(MTO1):c.924G>A (p.Thr308=) rs962712902
NM_012123.4(MTO1):c.937C>T (p.Arg313Ter)
NM_012123.4(MTO1):c.938+14G>A
NM_012123.4(MTO1):c.938+20G>T
NM_012123.4(MTO1):c.938+7= rs7766570
NM_012123.4(MTO1):c.939-10T>C
NM_012123.4(MTO1):c.939-10del rs1064794699
NM_012123.4(MTO1):c.939-6T>G
NM_012123.4(MTO1):c.93G>A (p.Ala31=)
NM_012123.4(MTO1):c.961A>T (p.Lys321Ter) rs148667065
NM_012123.4(MTO1):c.963A>C (p.Lys321Asn) rs1554148965
NM_012123.4(MTO1):c.967_968del (p.Leu323fs) rs2150035785
NM_012123.4(MTO1):c.96C>G (p.Pro32=) rs938648582
NM_012123.4(MTO1):c.970del (p.Arg324fs)
NM_012123.4(MTO1):c.971G>A (p.Arg324His)
NM_012123.4(MTO1):c.979A>T (p.Asn327Tyr)
NM_012123.4(MTO1):c.97C>G (p.Arg33Gly) rs769059204
NM_012123.4(MTO1):c.97del (p.Arg33fs) rs1582666067
NM_012123.4(MTO1):c.982C>T (p.Arg328Cys)
NM_012123.4(MTO1):c.983G>T (p.Arg328Leu) rs142148270
NM_012123.4(MTO1):c.986T>A (p.Leu329Gln) rs2150035811
NM_012123.4(MTO1):c.987A>G (p.Leu329=)
NM_012123.4(MTO1):c.990T>A (p.His330Gln) rs2150035817
NM_012123.4(MTO1):c.994G>A (p.Val332Ile) rs1173140501
NM_012123.4(MTO1):c.9C>T (p.Tyr3=)

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