ClinVar Miner

List of variants studied for sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 729
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HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.124-216A>G rs3008822 0.50249
NM_001358530.2(MOCS1):c.*1893G>C rs3008816 0.07361
NM_001358530.2(MOCS1):c.*824C>G rs11968491 0.06790
NM_001358530.2(MOCS1):c.583+10T>A rs34757428 0.06768
NM_001358530.2(MOCS1):c.716T>A (p.Leu239His) rs7762875 0.06302
NM_001358530.2(MOCS1):c.*451C>T rs41273136 0.06093
NM_001358530.2(MOCS1):c.*1334A>C rs3749999 0.05702
NM_001358530.2(MOCS1):c.698C>T (p.Ala233Val) rs35825585 0.05422
NM_001358530.2(MOCS1):c.*987C>T rs7758412 0.04471
NM_001358530.2(MOCS1):c.*378G>A rs11968529 0.04433
NM_001358530.2(MOCS1):c.1800C>T (p.Ala600=) rs41273138 0.03810
NM_001358530.2(MOCS1):c.1169C>A (p.Pro390His) rs11969769 0.03639
NM_001358530.2(MOCS1):c.*1928C>G rs73414848 0.03274
NM_001358530.2(MOCS1):c.583+6C>T rs111409017 0.03125
NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) rs61746375 0.02544
NM_001358530.2(MOCS1):c.*734C>G rs1063171 0.02273
NM_001358530.2(MOCS1):c.645+9G>C rs73732319 0.02256
NM_001358530.2(MOCS1):c.1316G>A (p.Arg439Gln) rs41273142 0.02099
NM_001358530.2(MOCS1):c.*1909A>G rs73732316 0.02000
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) rs41273140 0.01571
NM_001358530.2(MOCS1):c.*1136A>C rs60326448 0.01180
NM_001358530.2(MOCS1):c.*1002C>T rs115706925 0.01175
NM_001358530.2(MOCS1):c.*826A>C rs56355907 0.00844
NM_001358530.2(MOCS1):c.*578C>T rs147395035 0.00739
NM_001358530.2(MOCS1):c.*1405G>C rs3749998 0.00676
NM_001358530.2(MOCS1):c.*1113T>G rs3828937 0.00672
NM_001358530.2(MOCS1):c.*1911C>A rs188855912 0.00654
NM_020806.5(GPHN):c.800A>G (p.Asn267Ser) rs41285470 0.00586
NM_001358530.2(MOCS1):c.*120C>T rs188611081 0.00377
NM_001358530.2(MOCS1):c.*990T>C rs192141515 0.00355
NM_001358530.2(MOCS1):c.*1424C>G rs151159237 0.00270
NM_001358530.2(MOCS1):c.124-69G>A rs45487695 0.00266
NM_001358530.2(MOCS1):c.1668C>T (p.His556=) rs149233109 0.00240
NM_001358530.2(MOCS1):c.*1445C>T rs575187638 0.00223
NM_001358530.2(MOCS1):c.*477C>T rs184315150 0.00200
NM_001358530.2(MOCS1):c.*135T>G rs370974142 0.00198
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) rs143912353 0.00159
NM_001358530.2(MOCS1):c.*523T>C rs11963579 0.00151
NM_001358530.2(MOCS1):c.519T>G (p.Ser173Arg) rs61732596 0.00142
NM_001358530.2(MOCS1):c.455G>A (p.Gly152Asp) rs116035280 0.00128
NM_020806.5(GPHN):c.26C>G (p.Thr9Ser) rs150226537 0.00100
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_001358530.2(MOCS1):c.870+19G>A rs370411582 0.00068
NM_001358530.2(MOCS1):c.1744C>T (p.Arg582Trp) rs146849119 0.00061
NM_001358530.2(MOCS1):c.*762G>A rs115429345 0.00058
NM_001358530.2(MOCS1):c.124-167C>T rs189991561 0.00058
NM_001358530.2(MOCS1):c.282G>A (p.Pro94=) rs145146059 0.00056
NM_001358530.2(MOCS1):c.*1003G>A rs374341048 0.00055
NM_001358530.2(MOCS1):c.758-3C>T rs113678603 0.00045
NM_001358530.2(MOCS1):c.981+12C>T rs377628500 0.00045
NM_001358530.2(MOCS1):c.*659A>G rs142815887 0.00044
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043
NM_001358530.2(MOCS1):c.82A>T (p.Thr28Ser) rs202233034 0.00043
NM_001358530.2(MOCS1):c.*84A>G rs752606397 0.00042
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) rs377167949 0.00041
NM_001358530.2(MOCS1):c.431G>A (p.Arg144Gln) rs138822116 0.00041
NM_001358530.2(MOCS1):c.267C>T (p.Pro89=) rs142042550 0.00039
NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp) rs146944225 0.00038
NM_001358530.2(MOCS1):c.602A>G (p.Glu201Gly) rs186335243 0.00036
NM_001358530.2(MOCS1):c.96C>T (p.Pro32=) rs746347427 0.00036
NM_001358530.2(MOCS1):c.1752G>A (p.Arg584=) rs77225343 0.00035
NM_001358530.2(MOCS1):c.11G>A (p.Arg4Gln) rs760690355 0.00032
NM_001358530.2(MOCS1):c.357C>T (p.Ile119=) rs191519805 0.00029
NM_001358530.2(MOCS1):c.1016G>A (p.Arg339Gln) rs142478972 0.00027
NM_001358530.2(MOCS1):c.*400C>T rs764443066 0.00026
NM_001358530.2(MOCS1):c.*1857G>A rs193217053 0.00025
NM_001358530.2(MOCS1):c.264G>A (p.Met88Ile) rs144238782 0.00024
NM_001358530.2(MOCS1):c.942C>T (p.Thr314=) rs142940300 0.00024
NM_001358530.2(MOCS1):c.*1808G>A rs752267060 0.00022
NM_001358530.2(MOCS1):c.1322G>T (p.Gly441Val) rs751709940 0.00020
NM_001358530.2(MOCS1):c.4G>A (p.Ala2Thr) rs553972916 0.00019
NM_001358530.2(MOCS1):c.981+13T>G rs771833995 0.00017
NM_001358530.2(MOCS1):c.419C>T (p.Ala140Val) rs548898048 0.00016
NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr) rs143573353 0.00016
NM_001358530.2(MOCS1):c.61T>C (p.Cys21Arg) rs571518668 0.00016
NM_001358530.2(MOCS1):c.*633C>T rs757366588 0.00015
NM_001358530.2(MOCS1):c.645+7C>T rs112994296 0.00014
NM_001358530.2(MOCS1):c.758-9C>T rs368402544 0.00014
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=) rs745789021 0.00012
NM_001358530.2(MOCS1):c.1751G>A (p.Arg584Gln) rs764926640 0.00012
NM_001358530.2(MOCS1):c.*1954G>A rs189856931 0.00011
NM_001358530.2(MOCS1):c.*756A>C rs745583636 0.00011
NM_001358530.2(MOCS1):c.583+12T>C rs199797027 0.00011
NM_001358530.2(MOCS1):c.646G>A (p.Val216Met) rs201334190 0.00011
NM_001358530.2(MOCS1):c.675C>T (p.Asn225=) rs138960787 0.00011
NM_001358530.2(MOCS1):c.628G>A (p.Gly210Ser) rs181091882 0.00010
NM_001358530.2(MOCS1):c.645+20G>A rs376501822 0.00010
NM_001358530.2(MOCS1):c.*1628C>T rs766403739 0.00009
NM_001358530.2(MOCS1):c.1098T>G (p.His366Gln) rs372068922 0.00009
NM_001358530.2(MOCS1):c.171C>T (p.Phe57=) rs56286052 0.00009
NM_001358530.2(MOCS1):c.398C>T (p.Pro133Leu) rs139431867 0.00009
NM_001358530.2(MOCS1):c.*888C>T rs201675490 0.00008
NM_001358530.2(MOCS1):c.1023C>T (p.His341=) rs372034477 0.00008
NM_001358530.2(MOCS1):c.1315C>T (p.Arg439Trp) rs772101270 0.00008
NM_001358530.2(MOCS1):c.1801G>A (p.Ala601Thr) rs537163552 0.00008
NM_001358530.2(MOCS1):c.306G>C (p.Leu102=) rs374895706 0.00008
NM_001358530.2(MOCS1):c.451A>G (p.Ile151Val) rs760464651 0.00008
NM_001358530.2(MOCS1):c.937G>A (p.Gly313Arg) rs370710723 0.00008
NM_001358530.2(MOCS1):c.*326C>T rs554733904 0.00007
NM_001358530.2(MOCS1):c.399G>A (p.Pro133=) rs146296750 0.00007
NM_001358530.2(MOCS1):c.*1067A>C rs754337805 0.00006
NM_001358530.2(MOCS1):c.*142C>G rs751006327 0.00006
NM_001358530.2(MOCS1):c.*1832G>A rs757660047 0.00006
NM_001358530.2(MOCS1):c.1106T>A (p.Met369Lys) rs200072824 0.00006
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp) rs201889779 0.00006
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) rs104893970 0.00006
NM_001358530.2(MOCS1):c.335G>A (p.Arg112Gln) rs751538238 0.00006
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp) rs372246702 0.00006
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_001358530.2(MOCS1):c.484C>T (p.Arg162Trp) rs746138504 0.00006
NM_001358530.2(MOCS1):c.*1884G>A rs764874736 0.00005
NM_001358530.2(MOCS1):c.123+10C>G rs1320825546 0.00005
NM_001358530.2(MOCS1):c.162G>A (p.Ala54=) rs200316862 0.00005
NM_001358530.2(MOCS1):c.610C>T (p.His204Tyr) rs373030876 0.00005
NM_001358530.2(MOCS1):c.746T>A (p.Met249Lys) rs147564001 0.00005
NM_001358530.2(MOCS1):c.871-11C>T rs775232366 0.00005
NM_001358530.2(MOCS1):c.*1307A>G rs1038982726 0.00004
NM_001358530.2(MOCS1):c.*327G>A rs112129067 0.00004
NM_001358530.2(MOCS1):c.*664T>C rs148100667 0.00004
NM_001358530.2(MOCS1):c.1372A>G (p.Asn458Asp) rs558877176 0.00004
NM_001358530.2(MOCS1):c.13C>T (p.Pro5Ser) rs1278428185 0.00004
NM_001358530.2(MOCS1):c.1497G>A (p.Lys499=) rs748969310 0.00004
NM_001358530.2(MOCS1):c.1687C>G (p.Gln563Glu) rs777476892 0.00004
NM_001358530.2(MOCS1):c.1714C>T (p.Arg572Cys) rs574721812 0.00004
NM_001358530.2(MOCS1):c.176C>T (p.Ala59Val) rs542659659 0.00004
NM_001358530.2(MOCS1):c.196G>A (p.Gly66Ser) rs150364145 0.00004
NM_001358530.2(MOCS1):c.218G>A (p.Arg73Gln) rs757729598 0.00004
NM_001358530.2(MOCS1):c.575G>A (p.Arg192His) rs564888351 0.00004
NM_001358530.2(MOCS1):c.583+7G>A rs150131853 0.00004
NM_001358530.2(MOCS1):c.646-7C>T rs752335102 0.00004
NM_001358530.2(MOCS1):c.*1502A>G rs966816102 0.00003
NM_001358530.2(MOCS1):c.*1942C>T rs764671362 0.00003
NM_001358530.2(MOCS1):c.*2074A>G rs527715928 0.00003
NM_001358530.2(MOCS1):c.*638C>G rs886061386 0.00003
NM_001358530.2(MOCS1):c.100G>C (p.Glu34Gln) rs1444302015 0.00003
NM_001358530.2(MOCS1):c.106G>A (p.Ala36Thr) rs1421717640 0.00003
NM_001358530.2(MOCS1):c.1089G>A (p.Lys363=) rs979940090 0.00003
NM_001358530.2(MOCS1):c.1149C>T (p.Ile383=) rs367767625 0.00003
NM_001358530.2(MOCS1):c.1211C>T (p.Pro404Leu) rs570962724 0.00003
NM_001358530.2(MOCS1):c.123+12C>T rs777151395 0.00003
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=) rs771259156 0.00003
NM_001358530.2(MOCS1):c.156G>C (p.Glu52Asp) rs766904353 0.00003
NM_001358530.2(MOCS1):c.1722C>T (p.Ala574=) rs376513113 0.00003
NM_001358530.2(MOCS1):c.1809C>G (p.Thr603=) rs764538311 0.00003
NM_001358530.2(MOCS1):c.200G>A (p.Arg67Gln) rs766961404 0.00003
NM_001358530.2(MOCS1):c.331G>A (p.Ala111Thr) rs200517455 0.00003
NM_001358530.2(MOCS1):c.33G>A (p.Arg11=) rs958923547 0.00003
NM_001358530.2(MOCS1):c.372C>T (p.Leu124=) rs1380324846 0.00003
NM_001358530.2(MOCS1):c.574C>T (p.Arg192Cys) rs768205504 0.00003
NM_001358530.2(MOCS1):c.5C>A (p.Ala2Glu) rs533996841 0.00003
NM_001358530.2(MOCS1):c.630C>T (p.Gly210=) rs755466122 0.00003
NM_001358530.2(MOCS1):c.644A>G (p.Lys215Arg) rs887485143 0.00003
NM_001358530.2(MOCS1):c.707C>T (p.Thr236Ile) rs201036100 0.00003
NM_001358530.2(MOCS1):c.*1063T>A rs886061383 0.00002
NM_001358530.2(MOCS1):c.*1436C>T rs886061380 0.00002
NM_001358530.2(MOCS1):c.*1752C>G rs1291765153 0.00002
NM_001358530.2(MOCS1):c.*803C>T rs990062943 0.00002
NM_001358530.2(MOCS1):c.1028G>A (p.Arg343Gln) rs781187745 0.00002
NM_001358530.2(MOCS1):c.1102+12G>A rs781436380 0.00002
NM_001358530.2(MOCS1):c.1133G>A (p.Arg378Gln) rs200653737 0.00002
NM_001358530.2(MOCS1):c.124-19C>T rs748716557 0.00002
NM_001358530.2(MOCS1):c.136C>T (p.Arg46Trp) rs777830465 0.00002
NM_001358530.2(MOCS1):c.1469G>A (p.Arg490Gln) rs774068685 0.00002
NM_001358530.2(MOCS1):c.174C>T (p.Ser58=) rs776528157 0.00002
NM_001358530.2(MOCS1):c.1806C>T (p.Leu602=) rs752035322 0.00002
NM_001358530.2(MOCS1):c.1822T>C (p.Cys608Arg) rs753497618 0.00002
NM_001358530.2(MOCS1):c.268G>A (p.Glu90Lys) rs147580725 0.00002
NM_001358530.2(MOCS1):c.294A>T (p.Lys98Asn) rs373489919 0.00002
NM_001358530.2(MOCS1):c.334C>T (p.Arg112Trp) rs757431407 0.00002
NM_001358530.2(MOCS1):c.395G>A (p.Arg132Gln) rs887802302 0.00002
NM_001358530.2(MOCS1):c.419-73_419-4dup rs1562092911 0.00002
NM_001358530.2(MOCS1):c.430C>T (p.Arg144Trp) rs767641674 0.00002
NM_001358530.2(MOCS1):c.485G>A (p.Arg162Gln) rs374575232 0.00002
NM_001358530.2(MOCS1):c.619A>T (p.Ile207Phe) rs772313342 0.00002
NM_001358530.2(MOCS1):c.639T>G (p.Pro213=) rs1260936028 0.00002
NM_001358530.2(MOCS1):c.646-6G>A rs764778534 0.00002
NM_001358530.2(MOCS1):c.777G>C (p.Lys259Asn) rs763792241 0.00002
NM_001358530.2(MOCS1):c.870+15G>T rs781292954 0.00002
NM_001358530.2(MOCS1):c.882C>A (p.Ile294=) rs770541281 0.00002
NM_001358530.2(MOCS1):c.*1835T>G rs1466775644 0.00001
NM_001358530.2(MOCS1):c.*2A>G rs767003803 0.00001
NM_001358530.2(MOCS1):c.1010C>T (p.Ser337Phe) rs774245261 0.00001
NM_001358530.2(MOCS1):c.1014G>A (p.Leu338=) rs933989155 0.00001
NM_001358530.2(MOCS1):c.1035G>A (p.Gly345=) rs1767219129 0.00001
NM_001358530.2(MOCS1):c.1062C>A (p.Ile354=) rs1488815619 0.00001
NM_001358530.2(MOCS1):c.1080C>T (p.Gly360=) rs766980859 0.00001
NM_001358530.2(MOCS1):c.1091G>A (p.Arg364Gln) rs774298259 0.00001
NM_001358530.2(MOCS1):c.1102+2T>C rs1345407391 0.00001
NM_001358530.2(MOCS1):c.112G>C (p.Ala38Pro) rs532400782 0.00001
NM_001358530.2(MOCS1):c.1131C>T (p.Asn377=) rs755322625 0.00001
NM_001358530.2(MOCS1):c.1150+20G>A rs752653792 0.00001
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831 0.00001
NM_001358530.2(MOCS1):c.1222C>T (p.Gln408Ter) rs775830396 0.00001
NM_001358530.2(MOCS1):c.123+13C>T rs188194144 0.00001
NM_001358530.2(MOCS1):c.124-20T>G rs768260551 0.00001
NM_001358530.2(MOCS1):c.1282A>G (p.Arg428Gly) rs886061389 0.00001
NM_001358530.2(MOCS1):c.1367A>T (p.Asp456Val) rs143730711 0.00001
NM_001358530.2(MOCS1):c.161C>T (p.Ala54Val) rs374766990 0.00001
NM_001358530.2(MOCS1):c.164C>T (p.Ala55Val) rs1045854458 0.00001
NM_001358530.2(MOCS1):c.1735G>A (p.Ala579Thr) rs1766956058 0.00001
NM_001358530.2(MOCS1):c.175G>A (p.Ala59Thr) rs770756364 0.00001
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=) rs200764011 0.00001
NM_001358530.2(MOCS1):c.195C>T (p.Phe65=) rs765581108 0.00001
NM_001358530.2(MOCS1):c.199C>T (p.Arg67Trp) rs754441164 0.00001
NM_001358530.2(MOCS1):c.216G>T (p.Leu72=) rs1166882020 0.00001
NM_001358530.2(MOCS1):c.250+16G>T rs540414106 0.00001
NM_001358530.2(MOCS1):c.339C>A (p.Leu113=) rs762810343 0.00001
NM_001358530.2(MOCS1):c.344T>C (p.Val115Ala) rs372613479 0.00001
NM_001358530.2(MOCS1):c.352G>A (p.Gly118Ser) rs150060706 0.00001
NM_001358530.2(MOCS1):c.367C>T (p.Arg123Trp) rs779592342 0.00001
NM_001358530.2(MOCS1):c.368G>A (p.Arg123Gln) rs567945725 0.00001
NM_001358530.2(MOCS1):c.403G>A (p.Val135Met) rs1345203104 0.00001
NM_001358530.2(MOCS1):c.412A>G (p.Ile138Val) rs772515216 0.00001
NM_001358530.2(MOCS1):c.418+11C>T rs367871851 0.00001
NM_001358530.2(MOCS1):c.419-19C>T rs778681614 0.00001
NM_001358530.2(MOCS1):c.421C>G (p.Gln141Glu) rs368942024 0.00001
NM_001358530.2(MOCS1):c.426C>T (p.Leu142=) rs375882259 0.00001
NM_001358530.2(MOCS1):c.452T>C (p.Ile151Thr) rs772980797 0.00001
NM_001358530.2(MOCS1):c.529A>G (p.Ile177Val) rs767025683 0.00001
NM_001358530.2(MOCS1):c.554C>T (p.Ala185Val) rs1277403704 0.00001
NM_001358530.2(MOCS1):c.583+3G>A rs775383707 0.00001
NM_001358530.2(MOCS1):c.584-18C>T rs778935827 0.00001
NM_001358530.2(MOCS1):c.621C>G (p.Ile207Met) rs766223142 0.00001
NM_001358530.2(MOCS1):c.631T>C (p.Tyr211His) rs369792221 0.00001
NM_001358530.2(MOCS1):c.645+19C>T rs776612520 0.00001
NM_001358530.2(MOCS1):c.645+6G>T rs1767487620 0.00001
NM_001358530.2(MOCS1):c.646-10C>T rs1263767455 0.00001
NM_001358530.2(MOCS1):c.713G>T (p.Gly238Val) rs778501170 0.00001
NM_001358530.2(MOCS1):c.719C>T (p.Pro240Leu) rs753336008 0.00001
NM_001358530.2(MOCS1):c.730C>T (p.Arg244Cys) rs951951184 0.00001
NM_001358530.2(MOCS1):c.815G>A (p.Arg272Gln) rs368776652 0.00001
NM_001358530.2(MOCS1):c.831G>T (p.Glu277Asp) rs1767422040 0.00001
NM_001358530.2(MOCS1):c.863C>T (p.Thr288Ile) rs769378717 0.00001
NM_001358530.2(MOCS1):c.871-16A>G rs753117525 0.00001
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) rs104893969 0.00001
NM_001358530.2(MOCS1):c.981+1G>A rs759311241 0.00001
NM_001358530.2(MOCS1):c.982-18G>A rs760233322 0.00001
NM_176806.4(MOCS2):c.16C>T (p.Gln6Ter) rs121908607 0.00001
NC_000006.11:g.(?_39874133)_(39902156_?)del
NC_000006.11:g.(?_39876803)_(39902176_?)dup
NC_000006.11:g.(?_39877569)_(39902156_?)dup
NC_000006.11:g.(?_39881041)_(39902176_?)dup
NC_000006.11:g.(?_39881498)_(39883996_?)dup
NC_000006.11:g.(?_39892062)_39895188del
NC_000006.11:g.(?_39893402)_(39895317_?)dup
NC_000006.11:g.(?_39893548)_(39895439_?)del
NC_000006.11:g.(?_39895048)_(39895317_?)dup
NC_000006.11:g.(?_39902014)_(39902156_?)del
NC_000006.12:g.39907116CT[1]
NM_001075098.3(MOCS1):c.[853G>A;c.1015C>T]
NM_001358530.2(MOCS1):c.*1046A>T rs1766803869
NM_001358530.2(MOCS1):c.*1117A>C rs886061381
NM_001358530.2(MOCS1):c.*1305C>T rs7744483
NM_001358530.2(MOCS1):c.*1341T>A rs1766761624
NM_001358530.2(MOCS1):c.*1629G>A rs3793137
NM_001358530.2(MOCS1):c.*1629G>T rs3793137
NM_001358530.2(MOCS1):c.*1878G>A rs886061378
NM_001358530.2(MOCS1):c.*282T>C rs200673409
NM_001358530.2(MOCS1):c.*739C>T rs886061385
NM_001358530.2(MOCS1):c.*76T>C rs1766923347
NM_001358530.2(MOCS1):c.1000dup (p.Ser334fs) rs1767224356
NM_001358530.2(MOCS1):c.1001_1002del (p.Asn333_Ser334insTer) rs1562086521
NM_001358530.2(MOCS1):c.1004dup (p.Val336fs)
NM_001358530.2(MOCS1):c.1027C>T (p.Arg343Ter)
NM_001358530.2(MOCS1):c.1029A>G (p.Arg343=) rs757327636
NM_001358530.2(MOCS1):c.1036G>A (p.Ala346Thr)
NM_001358530.2(MOCS1):c.1036G>C (p.Ala346Pro) rs746533600
NM_001358530.2(MOCS1):c.1050G>A (p.Glu350=)
NM_001358530.2(MOCS1):c.1054C>T (p.Leu352=)
NM_001358530.2(MOCS1):c.1065T>C (p.Ile355=) rs2149400339
NM_001358530.2(MOCS1):c.1069G>T (p.Ala357Ser) rs1318933448
NM_001358530.2(MOCS1):c.106del (p.Ala36fs)
NM_001358530.2(MOCS1):c.1081A>G (p.Arg361Gly)
NM_001358530.2(MOCS1):c.1085A>G (p.Lys362Arg) rs1767214486
NM_001358530.2(MOCS1):c.108G>C (p.Ala36=)
NM_001358530.2(MOCS1):c.1097A>G (p.His366Arg)
NM_001358530.2(MOCS1):c.109C>T (p.Arg37Ter)
NM_001358530.2(MOCS1):c.1102+14G>T
NM_001358530.2(MOCS1):c.1102+1G>A rs146075796
NM_001358530.2(MOCS1):c.1102+1_1102+2del rs1562086288
NM_001358530.2(MOCS1):c.1102+20G>A
NM_001358530.2(MOCS1):c.1103-13T>G
NM_001358530.2(MOCS1):c.1103-17T>A
NM_001358530.2(MOCS1):c.1103-19C>T
NM_001358530.2(MOCS1):c.1103-19del
NM_001358530.2(MOCS1):c.1103-1G>A
NM_001358530.2(MOCS1):c.1103-1G>C
NM_001358530.2(MOCS1):c.1103-37_1103-19dup
NM_001358530.2(MOCS1):c.1103-4C>T
NM_001358530.2(MOCS1):c.1103-8C>T rs776730566
NM_001358530.2(MOCS1):c.1112G>T (p.Ser371Ile)
NM_001358530.2(MOCS1):c.1122G>C (p.Gln374His)
NM_001358530.2(MOCS1):c.1126A>T (p.Lys376Ter) rs1562085332
NM_001358530.2(MOCS1):c.112G>T (p.Ala38Ser) rs532400782
NM_001358530.2(MOCS1):c.1132C>G (p.Arg378Gly) rs149586823
NM_001358530.2(MOCS1):c.1132C>T (p.Arg378Trp) rs149586823
NM_001358530.2(MOCS1):c.1141A>G (p.Ile381Val) rs1767130999
NM_001358530.2(MOCS1):c.1150+10C>T
NM_001358530.2(MOCS1):c.1150+19C>G
NM_001358530.2(MOCS1):c.1150+19C>T
NM_001358530.2(MOCS1):c.1150+1G>T rs2149398895
NM_001358530.2(MOCS1):c.1150+21T>C
NM_001358530.2(MOCS1):c.1150+3dup rs2149398883
NM_001358530.2(MOCS1):c.1150G>T (p.Glu384Ter)
NM_001358530.2(MOCS1):c.1151-12C>T
NM_001358530.2(MOCS1):c.1151-20C>G
NM_001358530.2(MOCS1):c.1151-4G>A
NM_001358530.2(MOCS1):c.1158T>C (p.Phe386=)
NM_001358530.2(MOCS1):c.1160dup (p.Leu387fs)
NM_001358530.2(MOCS1):c.1162A>G (p.Met388Val)
NM_001358530.2(MOCS1):c.1167C>T (p.Phe389=)
NM_001358530.2(MOCS1):c.116C>T (p.Ala39Val)
NM_001358530.2(MOCS1):c.1170C>T (p.Pro390=)
NM_001358530.2(MOCS1):c.1170del (p.Asn391fs)
NM_001358530.2(MOCS1):c.1175C>T (p.Ser392Phe) rs1404897954
NM_001358530.2(MOCS1):c.1182A>G (p.Pro394=)
NM_001358530.2(MOCS1):c.1183_1186del (p.Ala395fs)
NM_001358530.2(MOCS1):c.1185C>A (p.Ala395=)
NM_001358530.2(MOCS1):c.1198T>G (p.Phe400Val)
NM_001358530.2(MOCS1):c.1204T>G (p.Trp402Gly)
NM_001358530.2(MOCS1):c.1206G>A (p.Trp402Ter)
NM_001358530.2(MOCS1):c.1211del (p.Pro404fs)
NM_001358530.2(MOCS1):c.1212G>A (p.Pro404=) rs11969233
NM_001358530.2(MOCS1):c.1212G>C (p.Pro404=) rs11969233
NM_001358530.2(MOCS1):c.1226G>A (p.Gly409Asp) rs1767003395
NM_001358530.2(MOCS1):c.123+13C>A
NM_001358530.2(MOCS1):c.123+13C>G
NM_001358530.2(MOCS1):c.123+14G>A rs530177835
NM_001358530.2(MOCS1):c.123+17T>G rs1301471457
NM_001358530.2(MOCS1):c.123+19C>T
NM_001358530.2(MOCS1):c.123+20G>A
NM_001358530.2(MOCS1):c.123+3G>A
NM_001358530.2(MOCS1):c.123+6C>G
NM_001358530.2(MOCS1):c.123+8C>T
NM_001358530.2(MOCS1):c.1230A>G (p.Leu410=)
NM_001358530.2(MOCS1):c.124-101G>A
NM_001358530.2(MOCS1):c.124-118G>T
NM_001358530.2(MOCS1):c.124-122_124-121insA
NM_001358530.2(MOCS1):c.124-123_124-122del
NM_001358530.2(MOCS1):c.124-124_124-123del
NM_001358530.2(MOCS1):c.124-12C>A
NM_001358530.2(MOCS1):c.124-176A>T rs1768410085
NM_001358530.2(MOCS1):c.124-1G>A
NM_001358530.2(MOCS1):c.124-1G>C
NM_001358530.2(MOCS1):c.124-26_124-25delinsA
NM_001358530.2(MOCS1):c.124-32del
NM_001358530.2(MOCS1):c.124-39A>G
NM_001358530.2(MOCS1):c.124-42G>T
NM_001358530.2(MOCS1):c.124-43del
NM_001358530.2(MOCS1):c.124-47A>G
NM_001358530.2(MOCS1):c.124-4G>A rs781034678
NM_001358530.2(MOCS1):c.124-4G>C rs781034678
NM_001358530.2(MOCS1):c.124-4G>T
NM_001358530.2(MOCS1):c.124-63C>A
NM_001358530.2(MOCS1):c.124-6T>G
NM_001358530.2(MOCS1):c.124-71G>T
NM_001358530.2(MOCS1):c.124-84A>G
NM_001358530.2(MOCS1):c.124-96G>T
NM_001358530.2(MOCS1):c.124-99A>T
NM_001358530.2(MOCS1):c.1242G>T (p.Met414Ile)
NM_001358530.2(MOCS1):c.1253G>C (p.Ser418Thr)
NM_001358530.2(MOCS1):c.1256A>T (p.Gln419Leu)
NM_001358530.2(MOCS1):c.1258G>T (p.Val420Leu)
NM_001358530.2(MOCS1):c.126G>A (p.Glu42=)
NM_001358530.2(MOCS1):c.1275del (p.Gly426fs)
NM_001358530.2(MOCS1):c.1276G>T (p.Gly426Ter)
NM_001358530.2(MOCS1):c.1278A>T (p.Gly426=)
NM_001358530.2(MOCS1):c.1290C>G (p.Pro430=)
NM_001358530.2(MOCS1):c.1299T>C (p.Pro433=)
NM_001358530.2(MOCS1):c.1308C>T (p.Ala436=)
NM_001358530.2(MOCS1):c.1323G>A (p.Gly441=)
NM_001358530.2(MOCS1):c.1332del (p.Gln446fs)
NM_001358530.2(MOCS1):c.1333T>C (p.Phe445Leu)
NM_001358530.2(MOCS1):c.1338_1341dup (p.His448fs)
NM_001358530.2(MOCS1):c.1338del (p.Arg447fs)
NM_001358530.2(MOCS1):c.133A>G (p.Arg45Gly)
NM_001358530.2(MOCS1):c.1340_1341del (p.Arg447fs)
NM_001358530.2(MOCS1):c.1343A>G (p.His448Arg)
NM_001358530.2(MOCS1):c.1347C>T (p.Tyr449=)
NM_001358530.2(MOCS1):c.1355G>T (p.Arg452Leu) rs11969206
NM_001358530.2(MOCS1):c.1357G>A (p.Ala453Thr)
NM_001358530.2(MOCS1):c.1374C>T (p.Asn458=)
NM_001358530.2(MOCS1):c.137G>A (p.Arg46Gln) rs752673279
NM_001358530.2(MOCS1):c.137G>C (p.Arg46Pro)
NM_001358530.2(MOCS1):c.1389C>T (p.Ser463=) rs2149396390
NM_001358530.2(MOCS1):c.1400G>A (p.Trp467Ter) rs780148535
NM_001358530.2(MOCS1):c.1404T>G (p.Ala468=)
NM_001358530.2(MOCS1):c.1407T>C (p.Ser469=)
NM_001358530.2(MOCS1):c.1414C>T (p.Pro472Ser)
NM_001358530.2(MOCS1):c.1416C>T (p.Pro472=)
NM_001358530.2(MOCS1):c.1423C>A (p.Pro475Thr) rs756972656
NM_001358530.2(MOCS1):c.1425C>T (p.Pro475=)
NM_001358530.2(MOCS1):c.1428G>A (p.Gln476=)
NM_001358530.2(MOCS1):c.142C>T (p.Gln48Ter)
NM_001358530.2(MOCS1):c.1446_1449dup (p.His484fs)
NM_001358530.2(MOCS1):c.1451_1452del (p.His484fs)
NM_001358530.2(MOCS1):c.1452T>C (p.His484=)
NM_001358530.2(MOCS1):c.1460C>T (p.Ser487Leu)
NM_001358530.2(MOCS1):c.1461G>A (p.Ser487=)
NM_001358530.2(MOCS1):c.1477A>G (p.Met493Val) rs2149396227
NM_001358530.2(MOCS1):c.1488G>A (p.Val496=)
NM_001358530.2(MOCS1):c.148C>T (p.Leu50=)
NM_001358530.2(MOCS1):c.1501_1504del (p.Asp501fs)
NM_001358530.2(MOCS1):c.1506A>G (p.Thr502=)
NM_001358530.2(MOCS1):c.1507G>A (p.Glu503Lys)
NM_001358530.2(MOCS1):c.1508A>G (p.Glu503Gly)
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs) rs397518419
NM_001358530.2(MOCS1):c.1510C>T (p.Arg504Trp)
NM_001358530.2(MOCS1):c.1511G>T (p.Arg504Leu)
NM_001358530.2(MOCS1):c.151C>T (p.Arg51Trp)
NM_001358530.2(MOCS1):c.152G>A (p.Arg51Gln)
NM_001358530.2(MOCS1):c.152G>T (p.Arg51Leu) rs754387991
NM_001358530.2(MOCS1):c.1530C>T (p.Ala510=)
NM_001358530.2(MOCS1):c.1546C>T (p.Pro516Ser)
NM_001358530.2(MOCS1):c.1547C>T (p.Pro516Leu)
NM_001358530.2(MOCS1):c.1548G>A (p.Pro516=)
NM_001358530.2(MOCS1):c.1570C>G (p.Gln524Glu)
NM_001358530.2(MOCS1):c.1589G>A (p.Gly530Glu)
NM_001358530.2(MOCS1):c.158A>G (p.His53Arg)
NM_001358530.2(MOCS1):c.1594G>T (p.Ala532Ser)
NM_001358530.2(MOCS1):c.159T>C (p.His53=)
NM_001358530.2(MOCS1):c.15A>G (p.Pro5=) rs2149429559
NM_001358530.2(MOCS1):c.1609C>T (p.Gln537Ter)
NM_001358530.2(MOCS1):c.1617T>C (p.Ala539=)
NM_001358530.2(MOCS1):c.1628C>A (p.Ala543Glu) rs886061388
NM_001358530.2(MOCS1):c.163G>T (p.Ala55Ser) rs762546266
NM_001358530.2(MOCS1):c.1650G>A (p.Leu550=)
NM_001358530.2(MOCS1):c.1657C>T (p.Leu553=)
NM_001358530.2(MOCS1):c.1665C>T (p.His555=)
NM_001358530.2(MOCS1):c.1669G>A (p.Val557Met)
NM_001358530.2(MOCS1):c.166C>T (p.Pro56Ser) rs1768383623
NM_001358530.2(MOCS1):c.1677G>C (p.Leu559=)
NM_001358530.2(MOCS1):c.167C>T (p.Pro56Leu)
NM_001358530.2(MOCS1):c.1692G>A (p.Val564=)
NM_001358530.2(MOCS1):c.1716C>T (p.Arg572=)
NM_001358530.2(MOCS1):c.1723G>A (p.Val575Met) rs938403965
NM_001358530.2(MOCS1):c.1745G>A (p.Arg582Gln)
NM_001358530.2(MOCS1):c.1745G>T (p.Arg582Leu)
NM_001358530.2(MOCS1):c.1746G>C (p.Arg582=)
NM_001358530.2(MOCS1):c.1749T>C (p.Ala583=)
NM_001358530.2(MOCS1):c.1750C>T (p.Arg584Trp)
NM_001358530.2(MOCS1):c.1752G>C (p.Arg584=)
NM_001358530.2(MOCS1):c.1752G>T (p.Arg584=)
NM_001358530.2(MOCS1):c.175G>T (p.Ala59Ser) rs770756364
NM_001358530.2(MOCS1):c.1761C>G (p.Thr587=) rs773157529
NM_001358530.2(MOCS1):c.1761C>T (p.Thr587=)
NM_001358530.2(MOCS1):c.1764G>A (p.Gly588=)
NM_001358530.2(MOCS1):c.1780C>G (p.Leu594Val)
NM_001358530.2(MOCS1):c.1785C>G (p.Thr595=)
NM_001358530.2(MOCS1):c.1790C>T (p.Ala597Val)
NM_001358530.2(MOCS1):c.1797G>A (p.Val599=)
NM_001358530.2(MOCS1):c.17_18delinsCT (p.Leu6Pro) rs2149429551
NM_001358530.2(MOCS1):c.1805T>C (p.Leu602Pro)
NM_001358530.2(MOCS1):c.1815T>C (p.Tyr605=)
NM_001358530.2(MOCS1):c.1817A>G (p.Asp606Gly)
NM_001358530.2(MOCS1):c.1823G>A (p.Cys608Tyr)
NM_001358530.2(MOCS1):c.1845C>A (p.Ile615=)
NM_001358530.2(MOCS1):c.1848G>A (p.Val616=)
NM_001358530.2(MOCS1):c.1848G>T (p.Val616=)
NM_001358530.2(MOCS1):c.1852GAG[1] (p.Glu619del)
NM_001358530.2(MOCS1):c.1853A>G (p.Glu618Gly)
NM_001358530.2(MOCS1):c.1854G>A (p.Glu618=)
NM_001358530.2(MOCS1):c.1860C>A (p.Ile620=) rs1766939352
NM_001358530.2(MOCS1):c.1868T>C (p.Ile623Thr)
NM_001358530.2(MOCS1):c.1879GGT[3] (p.Gly628_Gln629insGly)
NM_001358530.2(MOCS1):c.1881T>C (p.Gly627=)
NM_001358530.2(MOCS1):c.1881T>G (p.Gly627=)
NM_001358530.2(MOCS1):c.1888C>T (p.Arg630Trp)
NM_001358530.2(MOCS1):c.1889G>A (p.Arg630Gln)
NM_001358530.2(MOCS1):c.1889G>C (p.Arg630Pro)
NM_001358530.2(MOCS1):c.1891G>A (p.Gly631Arg)
NM_001358530.2(MOCS1):c.1894G>A (p.Asp632Asn)
NM_001358530.2(MOCS1):c.1894dup (p.Asp632fs) rs747994218
NM_001358530.2(MOCS1):c.1902T>C (p.His634=)
NM_001358530.2(MOCS1):c.1904G>A (p.Arg635Gln)
NM_001358530.2(MOCS1):c.1907C>T (p.Ala636Val)
NM_001358530.2(MOCS1):c.1908T>G (p.Ala636=)
NM_001358530.2(MOCS1):c.1A>C (p.Met1Leu) rs567333444
NM_001358530.2(MOCS1):c.200G>C (p.Arg67Pro)
NM_001358530.2(MOCS1):c.20C>G (p.Ser7Cys) rs2149429547
NM_001358530.2(MOCS1):c.214C>T (p.Leu72=) rs2149421879
NM_001358530.2(MOCS1):c.219G>T (p.Arg73=)
NM_001358530.2(MOCS1):c.21C>G (p.Ser7=)
NM_001358530.2(MOCS1):c.21C>T (p.Ser7=)
NM_001358530.2(MOCS1):c.226C>G (p.Leu76Val) rs763820136
NM_001358530.2(MOCS1):c.22C>G (p.Arg8Gly)
NM_001358530.2(MOCS1):c.22C>T (p.Arg8Trp)
NM_001358530.2(MOCS1):c.237G>A (p.Lys79=) rs1412619494
NM_001358530.2(MOCS1):c.238T>G (p.Cys80Gly)
NM_001358530.2(MOCS1):c.248G>A (p.Arg83Lys)
NM_001358530.2(MOCS1):c.250+14C>T
NM_001358530.2(MOCS1):c.250+5G>A
NM_001358530.2(MOCS1):c.250+7C>T
NM_001358530.2(MOCS1):c.250T>C (p.Cys84Arg) rs935994999
NM_001358530.2(MOCS1):c.251-11C>A rs377424990
NM_001358530.2(MOCS1):c.251-11C>T
NM_001358530.2(MOCS1):c.251-14C>T rs371002300
NM_001358530.2(MOCS1):c.251-18C>T
NM_001358530.2(MOCS1):c.251-19C>G
NM_001358530.2(MOCS1):c.251-2A>G
NM_001358530.2(MOCS1):c.251-7C>T rs2149419642
NM_001358530.2(MOCS1):c.252_256delinsG (p.Cys84fs)
NM_001358530.2(MOCS1):c.255G>A (p.Gln85=)
NM_001358530.2(MOCS1):c.255_264delinsTCCTT (p.Gln85fs)
NM_001358530.2(MOCS1):c.263T>A (p.Met88Lys)
NM_001358530.2(MOCS1):c.263T>G (p.Met88Arg)
NM_001358530.2(MOCS1):c.265C>G (p.Pro89Ala)
NM_001358530.2(MOCS1):c.268G>T (p.Glu90Ter) rs147580725
NM_001358530.2(MOCS1):c.26T>G (p.Met9Arg) rs2149429524
NM_001358530.2(MOCS1):c.271del (p.Glu91fs) rs2149419593
NM_001358530.2(MOCS1):c.277G>A (p.Val93Ile)
NM_001358530.2(MOCS1):c.277G>T (p.Val93Phe)
NM_001358530.2(MOCS1):c.277del (p.Val93fs)
NM_001358530.2(MOCS1):c.278T>A (p.Val93Asp) rs2149419575
NM_001358530.2(MOCS1):c.278dup (p.Leu95fs)
NM_001358530.2(MOCS1):c.27G>A (p.Met9Ile) rs1173913012
NM_001358530.2(MOCS1):c.281C>T (p.Pro94Leu) rs769807132
NM_001358530.2(MOCS1):c.288C>G (p.Thr96=)
NM_001358530.2(MOCS1):c.291del (p.Ala99fs) rs755808099
NM_001358530.2(MOCS1):c.293A>T (p.Lys98Ile)
NM_001358530.2(MOCS1):c.297C>T (p.Ala99=)
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=) rs111640560
NM_001358530.2(MOCS1):c.301del (p.Leu101fs)
NM_001358530.2(MOCS1):c.303G>A (p.Leu101=)
NM_001358530.2(MOCS1):c.304C>T (p.Leu102=)
NM_001358530.2(MOCS1):c.306G>A (p.Leu102=) rs374895706
NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs)
NM_001358530.2(MOCS1):c.30G>A (p.Leu10=)
NM_001358530.2(MOCS1):c.315G>A (p.Glu105=)
NM_001358530.2(MOCS1):c.331G>T (p.Ala111Ser)
NM_001358530.2(MOCS1):c.333C>T (p.Ala111=)
NM_001358530.2(MOCS1):c.336G>C (p.Arg112=)
NM_001358530.2(MOCS1):c.339C>G (p.Leu113=) rs762810343
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=) rs762810343
NM_001358530.2(MOCS1):c.342T>C (p.Phe114=)
NM_001358530.2(MOCS1):c.343del (p.Phe114_Val115insTer) rs2149419438
NM_001358530.2(MOCS1):c.347A>G (p.Lys116Arg)
NM_001358530.2(MOCS1):c.348G>A (p.Lys116=)
NM_001358530.2(MOCS1):c.34C>T (p.Arg12Trp) rs1425959654
NM_001358530.2(MOCS1):c.350A>T (p.Glu117Val)
NM_001358530.2(MOCS1):c.358G>A (p.Asp120Asn) rs368420298
NM_001358530.2(MOCS1):c.358G>C (p.Asp120His) rs368420298
NM_001358530.2(MOCS1):c.359A>G (p.Asp120Gly) rs773683592
NM_001358530.2(MOCS1):c.360C>A (p.Asp120Glu)
NM_001358530.2(MOCS1):c.367del (p.Arg123fs)
NM_001358530.2(MOCS1):c.36G>C (p.Arg12=)
NM_001358530.2(MOCS1):c.36G>T (p.Arg12=) rs1194576122
NM_001358530.2(MOCS1):c.376G>A (p.Gly126Ser)
NM_001358530.2(MOCS1):c.377G>T (p.Gly126Val)
NM_001358530.2(MOCS1):c.378T>C (p.Gly126=)
NM_001358530.2(MOCS1):c.379G>A (p.Gly127Arg) rs1321268099
NM_001358530.2(MOCS1):c.37C>T (p.Leu13Phe) rs2149429501
NM_001358530.2(MOCS1):c.386C>G (p.Pro129Arg) rs777815200
NM_001358530.2(MOCS1):c.387G>A (p.Pro129=)
NM_001358530.2(MOCS1):c.391A>C (p.Ile131Leu)
NM_001358530.2(MOCS1):c.391A>T (p.Ile131Phe) rs528340821
NM_001358530.2(MOCS1):c.397C>T (p.Pro133Ser)
NM_001358530.2(MOCS1):c.3G>A (p.Met1Ile) rs2149429593
NM_001358530.2(MOCS1):c.402C>T (p.Asp134=)
NM_001358530.2(MOCS1):c.414T>A (p.Ile138=)
NM_001358530.2(MOCS1):c.414T>C (p.Ile138=)
NM_001358530.2(MOCS1):c.418+10A>G
NM_001358530.2(MOCS1):c.418+12G>A rs533403673
NM_001358530.2(MOCS1):c.418+13A>G rs2149419190
NM_001358530.2(MOCS1):c.418+19A>G
NM_001358530.2(MOCS1):c.418+20T>C
NM_001358530.2(MOCS1):c.418+20T>G
NM_001358530.2(MOCS1):c.418+3G>A rs1378867002
NM_001358530.2(MOCS1):c.418+5G>A
NM_001358530.2(MOCS1):c.418+6T>C rs780678363
NM_001358530.2(MOCS1):c.418+9G>A
NM_001358530.2(MOCS1):c.418+9G>T
NM_001358530.2(MOCS1):c.419-13G>A
NM_001358530.2(MOCS1):c.419-16del
NM_001358530.2(MOCS1):c.419-20C>G
NM_001358530.2(MOCS1):c.419-3C>A
NM_001358530.2(MOCS1):c.419-4A>G rs2149407369
NM_001358530.2(MOCS1):c.421C>T (p.Gln141Ter)
NM_001358530.2(MOCS1):c.427C>T (p.Gln143Ter)
NM_001358530.2(MOCS1):c.432G>A (p.Arg144=)
NM_001358530.2(MOCS1):c.439G>A (p.Gly147Arg) rs1582817556
NM_001358530.2(MOCS1):c.455G>T (p.Gly152Val) rs116035280
NM_001358530.2(MOCS1):c.455del (p.Gly152fs)
NM_001358530.2(MOCS1):c.478C>T (p.Leu160=)
NM_001358530.2(MOCS1):c.484del (p.Arg162fs)
NM_001358530.2(MOCS1):c.485G>T (p.Arg162Leu) rs374575232
NM_001358530.2(MOCS1):c.486del (p.Leu163fs)
NM_001358530.2(MOCS1):c.48C>T (p.Ser16=)
NM_001358530.2(MOCS1):c.48del (p.Ser17fs) rs2149429492
NM_001358530.2(MOCS1):c.518G>C (p.Ser173Thr) rs1767645451
NM_001358530.2(MOCS1):c.519del (p.Ser173fs)
NM_001358530.2(MOCS1):c.51C>T (p.Ser17=)
NM_001358530.2(MOCS1):c.524T>A (p.Ile175Asn)
NM_001358530.2(MOCS1):c.544C>A (p.Leu182Met) rs1767642521
NM_001358530.2(MOCS1):c.544del (p.Leu182fs)
NM_001358530.2(MOCS1):c.558G>C (p.Lys186Asn) rs1767641412
NM_001358530.2(MOCS1):c.564G>A (p.Glu188=) rs780263625
NM_001358530.2(MOCS1):c.564G>T (p.Glu188Asp) rs780263625
NM_001358530.2(MOCS1):c.577_583+6del
NM_001358530.2(MOCS1):c.579G>A (p.Arg193=)
NM_001358530.2(MOCS1):c.583+10T>C rs34757428
NM_001358530.2(MOCS1):c.583+5G>A
NM_001358530.2(MOCS1):c.583+6C>A rs111409017
NM_001358530.2(MOCS1):c.584-5C>T rs372597577
NM_001358530.2(MOCS1):c.584-9C>G
NM_001358530.2(MOCS1):c.594G>A (p.Lys198=)
NM_001358530.2(MOCS1):c.595G>A (p.Val199Ile)
NM_001358530.2(MOCS1):c.596T>A (p.Val199Asp) rs2149404743
NM_001358530.2(MOCS1):c.601G>T (p.Glu201Ter)
NM_001358530.2(MOCS1):c.605_606delinsCT (p.Gly202Ala)
NM_001358530.2(MOCS1):c.607A>G (p.Ile203Val)
NM_001358530.2(MOCS1):c.609C>A (p.Ile203=)
NM_001358530.2(MOCS1):c.609C>T (p.Ile203=)
NM_001358530.2(MOCS1):c.60C>A (p.Ser20Arg) rs1208715055
NM_001358530.2(MOCS1):c.614A>G (p.Lys205Arg) rs1468443174
NM_001358530.2(MOCS1):c.616G>A (p.Ala206Thr) rs1767492682
NM_001358530.2(MOCS1):c.61T>A (p.Cys21Ser) rs571518668
NM_001358530.2(MOCS1):c.622G>A (p.Glu208Lys)
NM_001358530.2(MOCS1):c.624G>A (p.Glu208=) rs554596404
NM_001358530.2(MOCS1):c.631dup (p.Tyr211fs)
NM_001358530.2(MOCS1):c.632A>G (p.Tyr211Cys) rs1242005289
NM_001358530.2(MOCS1):c.635A>G (p.Asn212Ser)
NM_001358530.2(MOCS1):c.63C>T (p.Cys21=)
NM_001358530.2(MOCS1):c.642G>C (p.Val214=) rs1352324176
NM_001358530.2(MOCS1):c.645+11G>A
NM_001358530.2(MOCS1):c.645+18C>T rs759529600
NM_001358530.2(MOCS1):c.645+20G>T
NM_001358530.2(MOCS1):c.645+8C>T
NM_001358530.2(MOCS1):c.645+9G>A rs73732319
NM_001358530.2(MOCS1):c.646-8C>T
NM_001358530.2(MOCS1):c.646G>T (p.Val216Leu)
NM_001358530.2(MOCS1):c.649A>T (p.Asn217Tyr) rs1157838581
NM_001358530.2(MOCS1):c.64_93dup (p.Ser22_Cys31dup) rs2149429441
NM_001358530.2(MOCS1):c.652T>C (p.Cys218Arg)
NM_001358530.2(MOCS1):c.656T>C (p.Val219Ala)
NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter)
NM_001358530.2(MOCS1):c.669C>T (p.Gly223=)
NM_001358530.2(MOCS1):c.676G>A (p.Glu226Lys)
NM_001358530.2(MOCS1):c.690G>A (p.Leu230=)
NM_001358530.2(MOCS1):c.693C>T (p.Asp231=) rs554765057
NM_001358530.2(MOCS1):c.699G>A (p.Ala233=) rs1304693840
NM_001358530.2(MOCS1):c.711G>C (p.Glu237Asp)
NM_001358530.2(MOCS1):c.717C>A (p.Leu239=) rs1554189419
NM_001358530.2(MOCS1):c.720C>A (p.Pro240=)
NM_001358530.2(MOCS1):c.720C>G (p.Pro240=)
NM_001358530.2(MOCS1):c.721del (p.Leu241fs) rs1767453857
NM_001358530.2(MOCS1):c.722T>G (p.Leu241Arg) rs1767453228
NM_001358530.2(MOCS1):c.722del (p.Leu241fs) rs397518418
NM_001358530.2(MOCS1):c.729G>A (p.Val243=) rs886061390
NM_001358530.2(MOCS1):c.731G>A (p.Arg244His)
NM_001358530.2(MOCS1):c.740A>T (p.Glu247Val) rs2149404000
NM_001358530.2(MOCS1):c.741G>A (p.Glu247=)
NM_001358530.2(MOCS1):c.748C>G (p.Pro250Ala)
NM_001358530.2(MOCS1):c.750del (p.Phe251fs)
NM_001358530.2(MOCS1):c.757+17G>T
NM_001358530.2(MOCS1):c.757+19G>A
NM_001358530.2(MOCS1):c.757+4A>C rs1176487418
NM_001358530.2(MOCS1):c.757+5G>T
NM_001358530.2(MOCS1):c.758-16C>T
NM_001358530.2(MOCS1):c.758-17C>T rs2149403705
NM_001358530.2(MOCS1):c.758-6A>G
NM_001358530.2(MOCS1):c.758-8G>A
NM_001358530.2(MOCS1):c.759C>A (p.Gly253=)
NM_001358530.2(MOCS1):c.762C>G (p.Asn254Lys)
NM_001358530.2(MOCS1):c.763A>C (p.Lys255Gln) rs2149403668
NM_001358530.2(MOCS1):c.768G>A (p.Trp256Ter)
NM_001358530.2(MOCS1):c.774C>T (p.Phe258=) rs1338318870
NM_001358530.2(MOCS1):c.776del (p.Lys259fs)
NM_001358530.2(MOCS1):c.777G>T (p.Lys259Asn) rs763792241
NM_001358530.2(MOCS1):c.77C>A (p.Pro26Gln) rs749631517
NM_001358530.2(MOCS1):c.77C>T (p.Pro26Leu) rs749631517
NM_001358530.2(MOCS1):c.783G>C (p.Met261Ile) rs2149403637
NM_001358530.2(MOCS1):c.78G>T (p.Pro26=)
NM_001358530.2(MOCS1):c.791A>G (p.Tyr264Cys)
NM_001358530.2(MOCS1):c.793A>G (p.Lys265Glu) rs1269381010
NM_001358530.2(MOCS1):c.7G>A (p.Ala3Thr)
NM_001358530.2(MOCS1):c.7G>T (p.Ala3Ser) rs371890945
NM_001358530.2(MOCS1):c.802C>T (p.Leu268=)
NM_001358530.2(MOCS1):c.807C>T (p.Asp269=)
NM_001358530.2(MOCS1):c.809C>T (p.Thr270Ile)
NM_001358530.2(MOCS1):c.823T>A (p.Trp275Arg)
NM_001358530.2(MOCS1):c.823T>C (p.Trp275Arg) rs779576648
NM_001358530.2(MOCS1):c.825G>T (p.Trp275Cys) rs2149403578
NM_001358530.2(MOCS1):c.829G>A (p.Glu277Lys) rs1767422241
NM_001358530.2(MOCS1):c.840G>A (p.Lys280=)
NM_001358530.2(MOCS1):c.853G>C (p.Glu285Gln) rs140243105
NM_001358530.2(MOCS1):c.861C>A (p.Ser287Arg)
NM_001358530.2(MOCS1):c.868A>C (p.Lys290Gln) rs1767419049
NM_001358530.2(MOCS1):c.870+13G>C rs1476653498
NM_001358530.2(MOCS1):c.870+16G>A rs2149403493
NM_001358530.2(MOCS1):c.870+17G>A
NM_001358530.2(MOCS1):c.870+1G>T
NM_001358530.2(MOCS1):c.871-1G>A
NM_001358530.2(MOCS1):c.871-8C>G rs2149403004
NM_001358530.2(MOCS1):c.879A>G (p.Lys293=)
NM_001358530.2(MOCS1):c.896G>T (p.Gly299Val) rs2149402956
NM_001358530.2(MOCS1):c.8C>T (p.Ala3Val)
NM_001358530.2(MOCS1):c.902T>A (p.Ile301Asn)
NM_001358530.2(MOCS1):c.909C>T (p.Phe303=)
NM_001358530.2(MOCS1):c.920T>C (p.Met307Thr) rs1172609934
NM_001358530.2(MOCS1):c.925G>T (p.Glu309Ter)
NM_001358530.2(MOCS1):c.926A>T (p.Glu309Val) rs758233425
NM_001358530.2(MOCS1):c.929A>C (p.His310Pro)
NM_001358530.2(MOCS1):c.939G>C (p.Gly313=)
NM_001358530.2(MOCS1):c.945C>T (p.Cys315=)
NM_001358530.2(MOCS1):c.948C>T (p.Asn316=)
NM_001358530.2(MOCS1):c.949C>T (p.Arg317Cys)
NM_001358530.2(MOCS1):c.950G>A (p.Arg317His)
NM_001358530.2(MOCS1):c.950G>T (p.Arg317Leu) rs756158164
NM_001358530.2(MOCS1):c.955C>T (p.Arg319Ter) rs774902198
NM_001358530.2(MOCS1):c.962C>T (p.Thr321Ile) rs1304465015
NM_001358530.2(MOCS1):c.965C>G (p.Ala322Gly)
NM_001358530.2(MOCS1):c.969T>C (p.Asp323=)
NM_001358530.2(MOCS1):c.971G>A (p.Gly324Glu)
NM_001358530.2(MOCS1):c.975C>T (p.Asn325=)
NM_001358530.2(MOCS1):c.981+12C>G
NM_001358530.2(MOCS1):c.981+19_981+27del
NM_001358530.2(MOCS1):c.981+6C>T rs1249720881
NM_001358530.2(MOCS1):c.982-1G>A
NM_001358530.2(MOCS1):c.982-20T>C rs766069221
NM_001358530.2(MOCS1):c.982-3T>C rs1248247549
NM_001358530.2(MOCS1):c.982-4G>A rs2149400474
NM_001358530.2(MOCS1):c.982-4G>T
NM_001358530.2(MOCS1):c.982-6A>G rs1482016729
NM_001358530.2(MOCS1):c.982-763_1036del
NM_001358530.2(MOCS1):c.986G>C (p.Cys329Ser) rs2149400459
NM_001358530.2(MOCS1):c.993del (p.Phe331fs)
NM_001358530.2(MOCS1):c.994G>T (p.Gly332Ter)
NM_001358530.2(MOCS1):c.997A>T (p.Asn333Tyr) rs2149400451

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