ClinVar Miner

List of variants in gene MECOM studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 402
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HGVS dbSNP gnomAD frequency
NM_004991.4(MECOM):c.614-5C>G rs114414421 0.00322
NM_004991.4(MECOM):c.822T>C (p.Asp274=) rs142578153 0.00277
NM_004991.4(MECOM):c.3012C>T (p.Asn1004=) rs116736168 0.00188
NM_004991.4(MECOM):c.1707C>A (p.Pro569=) rs141081950 0.00172
NM_004991.4(MECOM):c.2771+9A>G rs377390952 0.00098
NM_004991.4(MECOM):c.2590G>A (p.Asp864Asn) rs75041628 0.00067
NM_004991.4(MECOM):c.2492T>C (p.Val831Ala) rs200965422 0.00048
NM_004991.4(MECOM):c.3636A>C (p.Thr1212=) rs148539966 0.00037
NM_004991.4(MECOM):c.1355A>C (p.Asp452Ala) rs145677287 0.00024
NM_004991.4(MECOM):c.3570A>G (p.Arg1190=) rs146055772 0.00022
NM_004991.4(MECOM):c.180G>A (p.Glu60=) rs188488402 0.00019
NM_004991.4(MECOM):c.2219C>T (p.Ser740Phe) rs201320721 0.00014
NM_004991.4(MECOM):c.2489+7G>A rs202201605 0.00014
NM_004991.4(MECOM):c.2571C>A (p.His857Gln) rs371991943 0.00009
NM_004991.4(MECOM):c.3717A>G (p.Val1239=) rs369748515 0.00008
NM_004991.4(MECOM):c.1413C>T (p.Gly471=) rs780755663 0.00006
NM_004991.4(MECOM):c.2611G>A (p.Ala871Thr) rs371057960 0.00006
NM_004991.4(MECOM):c.757G>A (p.Glu253Lys) rs371291867 0.00006
NM_004991.4(MECOM):c.1029C>T (p.Val343=) rs772780683 0.00005
NM_004991.4(MECOM):c.951G>T (p.Lys317Asn) rs373255348 0.00005
NM_004991.4(MECOM):c.2771+4A>G rs773749114 0.00004
NM_004991.4(MECOM):c.580T>G (p.Tyr194Asp) rs745797691 0.00004
NM_004991.4(MECOM):c.3683C>T (p.Ala1228Val) rs779316050 0.00003
NM_004991.4(MECOM):c.2415C>T (p.Val805=) rs756402551 0.00002
NM_004991.4(MECOM):c.3446A>G (p.His1149Arg) rs779967808 0.00002
NM_004991.4(MECOM):c.756C>T (p.Ser252=) rs539169252 0.00002
NM_004991.4(MECOM):c.2352T>C (p.Ser784=) rs370860789 0.00001
NM_004991.4(MECOM):c.3106C>T (p.Arg1036Ter) rs1560118923 0.00001
NM_004991.4(MECOM):c.3585+8T>G rs761498391 0.00001
GRCh37/hg19 3q26.2(chr3:168665376-168815209)x1
NM_004991.4(MECOM):c.1007G>A (p.Arg336Gln)
NM_004991.4(MECOM):c.1046C>A (p.Ala349Glu)
NM_004991.4(MECOM):c.1052C>T (p.Pro351Leu)
NM_004991.4(MECOM):c.1053G>A (p.Pro351=)
NM_004991.4(MECOM):c.1059T>C (p.Cys353=)
NM_004991.4(MECOM):c.1068G>A (p.Thr356=)
NM_004991.4(MECOM):c.1080G>A (p.Ser360=)
NM_004991.4(MECOM):c.1080G>T (p.Ser360=)
NM_004991.4(MECOM):c.1089C>T (p.Leu363=)
NM_004991.4(MECOM):c.1105A>G (p.Ile369Val)
NM_004991.4(MECOM):c.1107C>T (p.Ile369=)
NM_004991.4(MECOM):c.1130T>C (p.Ile377Thr)
NM_004991.4(MECOM):c.1170C>T (p.Asn390=)
NM_004991.4(MECOM):c.1187G>A (p.Arg396His)
NM_004991.4(MECOM):c.1189A>C (p.Met397Leu)
NM_004991.4(MECOM):c.1212A>C (p.Gln404His)
NM_004991.4(MECOM):c.1224A>C (p.Lys408Asn)
NM_004991.4(MECOM):c.1236A>T (p.Gln412His)
NM_004991.4(MECOM):c.1250C>T (p.Thr417Met)
NM_004991.4(MECOM):c.1270AGG[1] (p.Arg425del)
NM_004991.4(MECOM):c.1275G>A (p.Arg425=)
NM_004991.4(MECOM):c.1289A>C (p.Lys430Thr)
NM_004991.4(MECOM):c.1301C>T (p.Ala434Val)
NM_004991.4(MECOM):c.1302G>A (p.Ala434=)
NM_004991.4(MECOM):c.1314T>A (p.Phe438Leu)
NM_004991.4(MECOM):c.1317T>G (p.Phe439Leu)
NM_004991.4(MECOM):c.1322A>G (p.Gln441Arg)
NM_004991.4(MECOM):c.1332A>T (p.Ser444=)
NM_004991.4(MECOM):c.1343C>G (p.Thr448Ser)
NM_004991.4(MECOM):c.1350T>C (p.Ala450=)
NM_004991.4(MECOM):c.1351A>G (p.Met451Val)
NM_004991.4(MECOM):c.1360A>T (p.Thr454Ser)
NM_004991.4(MECOM):c.1361C>A (p.Thr454Lys)
NM_004991.4(MECOM):c.1361C>T (p.Thr454Met)
NM_004991.4(MECOM):c.1362G>A (p.Thr454=)
NM_004991.4(MECOM):c.1366A>G (p.Met456Val)
NM_004991.4(MECOM):c.1373A>C (p.Asn458Thr)
NM_004991.4(MECOM):c.1381C>T (p.His461Tyr)
NM_004991.4(MECOM):c.1386C>A (p.Ala462=)
NM_004991.4(MECOM):c.1391C>G (p.Pro464Arg)
NM_004991.4(MECOM):c.1391C>T (p.Pro464Leu)
NM_004991.4(MECOM):c.1392G>A (p.Pro464=)
NM_004991.4(MECOM):c.1414G>A (p.Ala472Thr)
NM_004991.4(MECOM):c.1418A>G (p.Asn473Ser)
NM_004991.4(MECOM):c.1426C>T (p.Pro476Ser)
NM_004991.4(MECOM):c.1427C>T (p.Pro476Leu)
NM_004991.4(MECOM):c.142T>C (p.Ser48Pro)
NM_004991.4(MECOM):c.1446A>G (p.Pro482=)
NM_004991.4(MECOM):c.1453C>A (p.Pro485Thr)
NM_004991.4(MECOM):c.1459T>C (p.Phe487Leu)
NM_004991.4(MECOM):c.1467T>G (p.Phe489Leu)
NM_004991.4(MECOM):c.1475C>T (p.Pro492Leu)
NM_004991.4(MECOM):c.1491C>T (p.Ser497=)
NM_004991.4(MECOM):c.1492G>A (p.Gly498Ser)
NM_004991.4(MECOM):c.1494C>T (p.Gly498=)
NM_004991.4(MECOM):c.1502A>G (p.His501Arg)
NM_004991.4(MECOM):c.1503C>G (p.His501Gln) rs145851161
NM_004991.4(MECOM):c.1503C>T (p.His501=)
NM_004991.4(MECOM):c.1515G>A (p.Leu505=)
NM_004991.4(MECOM):c.1534G>A (p.Val512Ile)
NM_004991.4(MECOM):c.1539A>G (p.Lys513=)
NM_004991.4(MECOM):c.1562C>A (p.Thr521Lys)
NM_004991.4(MECOM):c.1605G>T (p.Leu535=)
NM_004991.4(MECOM):c.1611T>C (p.Ala537=)
NM_004991.4(MECOM):c.1615C>G (p.Gln539Glu)
NM_004991.4(MECOM):c.1619A>G (p.Asp540Gly)
NM_004991.4(MECOM):c.1651G>C (p.Val551Leu)
NM_004991.4(MECOM):c.1654G>A (p.Gly552Arg)
NM_004991.4(MECOM):c.1663A>C (p.Lys555Gln)
NM_004991.4(MECOM):c.1683C>T (p.Pro561=)
NM_004991.4(MECOM):c.1684G>C (p.Glu562Gln)
NM_004991.4(MECOM):c.1685A>G (p.Glu562Gly)
NM_004991.4(MECOM):c.1691C>G (p.Ser564Cys)
NM_004991.4(MECOM):c.1692C>T (p.Ser564=)
NM_004991.4(MECOM):c.1692del (p.Ser565fs) rs2149078493
NM_004991.4(MECOM):c.1701G>C (p.Glu567Asp)
NM_004991.4(MECOM):c.1706C>T (p.Pro569Leu)
NM_004991.4(MECOM):c.1707C>T (p.Pro569=)
NM_004991.4(MECOM):c.1726C>A (p.Gln576Lys)
NM_004991.4(MECOM):c.1732G>A (p.Glu578Lys)
NM_004991.4(MECOM):c.1736G>A (p.Ser579Asn)
NM_004991.4(MECOM):c.1743C>T (p.Asp581=)
NM_004991.4(MECOM):c.1752T>A (p.Asp584Glu)
NM_004991.4(MECOM):c.1753G>A (p.Val585Ile)
NM_004991.4(MECOM):c.1807A>G (p.Ser603Gly)
NM_004991.4(MECOM):c.1834T>C (p.Phe612Leu)
NM_004991.4(MECOM):c.1834T>G (p.Phe612Val)
NM_004991.4(MECOM):c.1852A>G (p.Met618Val)
NM_004991.4(MECOM):c.1869A>G (p.Val623=)
NM_004991.4(MECOM):c.1872C>T (p.Ser624=)
NM_004991.4(MECOM):c.1890T>C (p.Ala630=)
NM_004991.4(MECOM):c.1916G>A (p.Ser639Asn)
NM_004991.4(MECOM):c.1918A>G (p.Asn640Asp)
NM_004991.4(MECOM):c.1923T>C (p.His641=)
NM_004991.4(MECOM):c.1925C>G (p.Ser642Cys)
NM_004991.4(MECOM):c.1945G>C (p.Glu649Gln)
NM_004991.4(MECOM):c.1950G>A (p.Glu650=)
NM_004991.4(MECOM):c.1958C>T (p.Ala653Val)
NM_004991.4(MECOM):c.1977T>A (p.Asn659Lys)
NM_004991.4(MECOM):c.1984A>G (p.Ile662Val)
NM_004991.4(MECOM):c.2013A>G (p.Lys671=)
NM_004991.4(MECOM):c.2023T>C (p.Ser675Pro)
NM_004991.4(MECOM):c.2028A>T (p.Thr676=)
NM_004991.4(MECOM):c.2055A>C (p.Lys685Asn)
NM_004991.4(MECOM):c.2063C>A (p.Ala688Asp)
NM_004991.4(MECOM):c.2067A>C (p.Leu689Phe)
NM_004991.4(MECOM):c.2068C>A (p.Pro690Thr) rs1728985243
NM_004991.4(MECOM):c.2074C>G (p.Pro692Ala)
NM_004991.4(MECOM):c.2080A>G (p.Met694Val)
NM_004991.4(MECOM):c.2094A>G (p.Pro698=)
NM_004991.4(MECOM):c.2103A>G (p.Pro701=)
NM_004991.4(MECOM):c.2109C>G (p.Phe703Leu)
NM_004991.4(MECOM):c.2117_2120del (p.Ser706fs)
NM_004991.4(MECOM):c.2165T>C (p.Met722Thr)
NM_004991.4(MECOM):c.2172C>T (p.Pro724=)
NM_004991.4(MECOM):c.2175A>G (p.Gln725=)
NM_004991.4(MECOM):c.2178A>T (p.Ser726=)
NM_004991.4(MECOM):c.2180C>T (p.Pro727Leu)
NM_004991.4(MECOM):c.2182G>A (p.Gly728Ser)
NM_004991.4(MECOM):c.2197C>T (p.Leu733=)
NM_004991.4(MECOM):c.2240A>G (p.Lys747Arg)
NM_004991.4(MECOM):c.2242C>A (p.Arg748=)
NM_004991.4(MECOM):c.2243G>A (p.Arg748Gln)
NM_004991.4(MECOM):c.2262G>C (p.Leu754Phe) rs572906212
NM_004991.4(MECOM):c.2268A>G (p.Pro756=)
NM_004991.4(MECOM):c.2273C>T (p.Pro758Leu)
NM_004991.4(MECOM):c.2274C>T (p.Pro758=)
NM_004991.4(MECOM):c.2278A>C (p.Lys760Gln)
NM_004991.4(MECOM):c.2286A>G (p.Pro762=)
NM_004991.4(MECOM):c.2303G>A (p.Ser768Asn)
NM_004991.4(MECOM):c.2335A>T (p.Ser779Cys)
NM_004991.4(MECOM):c.2338A>G (p.Arg780Gly)
NM_004991.4(MECOM):c.2342G>A (p.Ser781Asn)
NM_004991.4(MECOM):c.2370G>A (p.Glu790=)
NM_004991.4(MECOM):c.2375G>A (p.Arg792Gln)
NM_004991.4(MECOM):c.2386G>A (p.Val796Met)
NM_004991.4(MECOM):c.2388G>A (p.Val796=)
NM_004991.4(MECOM):c.2399A>G (p.Lys800Arg)
NM_004991.4(MECOM):c.2409C>T (p.Ser803=)
NM_004991.4(MECOM):c.2412C>T (p.Asn804=)
NM_004991.4(MECOM):c.2413G>A (p.Val805Ile)
NM_004991.4(MECOM):c.2435A>G (p.Asp812Gly)
NM_004991.4(MECOM):c.2448G>A (p.Gln816=)
NM_004991.4(MECOM):c.2454A>G (p.Ala818=)
NM_004991.4(MECOM):c.2468T>C (p.Phe823Ser)
NM_004991.4(MECOM):c.2471T>C (p.Phe824Ser)
NM_004991.4(MECOM):c.2471T>G (p.Phe824Cys)
NM_004991.4(MECOM):c.2473A>G (p.Met825Val)
NM_004991.4(MECOM):c.2479C>T (p.Pro827Ser)
NM_004991.4(MECOM):c.2489+6C>T
NM_004991.4(MECOM):c.2490-20A>G
NM_004991.4(MECOM):c.2502A>G (p.Arg834=)
NM_004991.4(MECOM):c.2510C>T (p.Thr837Ile)
NM_004991.4(MECOM):c.2522A>G (p.Glu841Gly)
NM_004991.4(MECOM):c.2540A>T (p.Tyr847Phe)
NM_004991.4(MECOM):c.2548C>A (p.Pro850Thr)
NM_004991.4(MECOM):c.2577+10T>C
NM_004991.4(MECOM):c.2577+16T>A
NM_004991.4(MECOM):c.2577+20G>A
NM_004991.4(MECOM):c.2578-10T>G
NM_004991.4(MECOM):c.2578-19dup
NM_004991.4(MECOM):c.2578-4C>T
NM_004991.4(MECOM):c.2578-7C>A
NM_004991.4(MECOM):c.2578-9T>C
NM_004991.4(MECOM):c.2580C>T (p.Phe860=)
NM_004991.4(MECOM):c.2604+17T>C
NM_004991.4(MECOM):c.2604+19T>A
NM_004991.4(MECOM):c.2605-11T>C
NM_004991.4(MECOM):c.2605-8C>T
NM_004991.4(MECOM):c.2634G>T (p.Lys878Asn)
NM_004991.4(MECOM):c.2662G>A (p.Glu888Lys)
NM_004991.4(MECOM):c.2664G>C (p.Glu888Asp)
NM_004991.4(MECOM):c.2665_2666delinsAG (p.Ala889Ser)
NM_004991.4(MECOM):c.2666C>G (p.Ala889Gly)
NM_004991.4(MECOM):c.2674C>A (p.Leu892Ile)
NM_004991.4(MECOM):c.2701A>C (p.Asn901His)
NM_004991.4(MECOM):c.2707A>G (p.Arg903Gly)
NM_004991.4(MECOM):c.2708G>A (p.Arg903Lys)
NM_004991.4(MECOM):c.2711C>T (p.Ala904Val)
NM_004991.4(MECOM):c.2712G>A (p.Ala904=)
NM_004991.4(MECOM):c.2720A>G (p.Asn907Ser)
NM_004991.4(MECOM):c.2730A>G (p.Pro910=)
NM_004991.4(MECOM):c.2732A>G (p.Glu911Gly)
NM_004991.4(MECOM):c.2742G>C (p.Leu914=)
NM_004991.4(MECOM):c.2743C>A (p.Arg915=)
NM_004991.4(MECOM):c.2743C>T (p.Arg915Trp)
NM_004991.4(MECOM):c.2744G>A (p.Arg915Gln)
NM_004991.4(MECOM):c.2759G>A (p.Arg920His)
NM_004991.4(MECOM):c.2771+10C>T
NM_004991.4(MECOM):c.2771+3A>G
NM_004991.4(MECOM):c.2772-7A>G
NM_004991.4(MECOM):c.2784G>A (p.Lys928=)
NM_004991.4(MECOM):c.2803A>G (p.Asn935Asp)
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) rs864309724
NM_004991.4(MECOM):c.2813G>A (p.Arg938Gln)
NM_004991.4(MECOM):c.2820G>A (p.Leu940=)
NM_004991.4(MECOM):c.2821A>C (p.Arg941=)
NM_004991.4(MECOM):c.2849+11G>T
NM_004991.4(MECOM):c.2849+18G>C
NM_004991.4(MECOM):c.2850A>T (p.Arg950Ser)
NM_004991.4(MECOM):c.2852G>A (p.Cys951Tyr)
NM_004991.4(MECOM):c.2861G>A (p.Cys954Tyr)
NM_004991.4(MECOM):c.2880A>G (p.Ile960Met)
NM_004991.4(MECOM):c.2881T>C (p.Ser961Pro)
NM_004991.4(MECOM):c.2886T>C (p.Ser962=)
NM_004991.4(MECOM):c.2906G>T (p.Arg969Leu) rs2148891008
NM_004991.4(MECOM):c.2917A>C (p.Asn973His)
NM_004991.4(MECOM):c.2917A>G (p.Asn973Asp)
NM_004991.4(MECOM):c.2940T>C (p.Cys980=) rs1379047485
NM_004991.4(MECOM):c.2941C>T (p.His981Tyr)
NM_004991.4(MECOM):c.2952T>C (p.Asp984=)
NM_004991.4(MECOM):c.2956T>C (p.Cys986Arg)
NM_004991.4(MECOM):c.2963G>T (p.Gly988Val)
NM_004991.4(MECOM):c.2994G>T (p.Lys998Asn)
NM_004991.4(MECOM):c.2998C>T (p.His1000Tyr)
NM_004991.4(MECOM):c.3008G>A (p.Gly1003Glu)
NM_004991.4(MECOM):c.3012C>A (p.Asn1004Lys)
NM_004991.4(MECOM):c.3013A>G (p.Met1005Val)
NM_004991.4(MECOM):c.3018C>T (p.Ser1006=)
NM_004991.4(MECOM):c.3019+10A>T rs770417491
NM_004991.4(MECOM):c.3019+16T>A
NM_004991.4(MECOM):c.3019+20A>G
NM_004991.4(MECOM):c.3019+4C>T
NM_004991.4(MECOM):c.3020-14T>C
NM_004991.4(MECOM):c.3031T>G (p.Ser1011Ala)
NM_004991.4(MECOM):c.3033G>A (p.Ser1011=)
NM_004991.4(MECOM):c.3036G>A (p.Ser1012=)
NM_004991.4(MECOM):c.3053A>G (p.Glu1018Gly)
NM_004991.4(MECOM):c.3065C>G (p.Ala1022Gly)
NM_004991.4(MECOM):c.3066G>A (p.Ala1022=)
NM_004991.4(MECOM):c.3080A>G (p.Lys1027Arg)
NM_004991.4(MECOM):c.3103A>T (p.Ile1035Phe)
NM_004991.4(MECOM):c.3106C>G (p.Arg1036Gly)
NM_004991.4(MECOM):c.3107G>A (p.Arg1036Gln)
NM_004991.4(MECOM):c.3115A>C (p.Ile1039Leu)
NM_004991.4(MECOM):c.3115A>T (p.Ile1039Phe)
NM_004991.4(MECOM):c.3116T>C (p.Ile1039Thr)
NM_004991.4(MECOM):c.3123C>T (p.Asn1041=)
NM_004991.4(MECOM):c.3125G>A (p.Ser1042Asn)
NM_004991.4(MECOM):c.3131A>G (p.His1044Arg)
NM_004991.4(MECOM):c.3132T>C (p.His1044=)
NM_004991.4(MECOM):c.3141A>G (p.Gln1047=)
NM_004991.4(MECOM):c.3147C>G (p.Pro1049=)
NM_004991.4(MECOM):c.3153T>C (p.Asn1051=)
NM_004991.4(MECOM):c.3164+11C>T
NM_004991.4(MECOM):c.3165-15del
NM_004991.4(MECOM):c.3165-15dup
NM_004991.4(MECOM):c.3165-17T>G
NM_004991.4(MECOM):c.3166A>G (p.Met1056Val)
NM_004991.4(MECOM):c.3171T>C (p.Asn1057=)
NM_004991.4(MECOM):c.3175A>G (p.Ser1059Gly)
NM_004991.4(MECOM):c.3178C>T (p.His1060Tyr)
NM_004991.4(MECOM):c.3203T>C (p.Val1068Ala)
NM_004991.4(MECOM):c.3206C>G (p.Thr1069Ser)
NM_004991.4(MECOM):c.3240A>T (p.Glu1080Asp)
NM_004991.4(MECOM):c.3243T>C (p.Val1081=)
NM_004991.4(MECOM):c.3274G>A (p.Glu1092Lys)
NM_004991.4(MECOM):c.3284A>G (p.Asp1095Gly)
NM_004991.4(MECOM):c.3303A>G (p.Gly1101=)
NM_004991.4(MECOM):c.330G>A (p.Val110=)
NM_004991.4(MECOM):c.3314T>C (p.Val1105Ala) rs386352330
NM_004991.4(MECOM):c.3322A>G (p.Asn1108Asp)
NM_004991.4(MECOM):c.3353A>G (p.Tyr1118Cys)
NM_004991.4(MECOM):c.3383G>A (p.Cys1128Tyr)
NM_004991.4(MECOM):c.3392C>T (p.Ser1131Phe)
NM_004991.4(MECOM):c.3393C>G (p.Ser1131=)
NM_004991.4(MECOM):c.3394C>T (p.Pro1132Ser)
NM_004991.4(MECOM):c.3397G>A (p.Val1133Met)
NM_004991.4(MECOM):c.3401+10T>G
NM_004991.4(MECOM):c.3401+17A>C
NM_004991.4(MECOM):c.3401+19T>C
NM_004991.4(MECOM):c.3402-10T>C
NM_004991.4(MECOM):c.3402-15G>A
NM_004991.4(MECOM):c.3402-15G>C
NM_004991.4(MECOM):c.3402-16C>T
NM_004991.4(MECOM):c.3402-16_3402-15delinsTT
NM_004991.4(MECOM):c.3402-4T>C
NM_004991.4(MECOM):c.3412G>A (p.Glu1138Lys)
NM_004991.4(MECOM):c.3420T>C (p.Tyr1140=)
NM_004991.4(MECOM):c.3430C>G (p.Leu1144Val)
NM_004991.4(MECOM):c.3448A>G (p.Ile1150Val)
NM_004991.4(MECOM):c.3452G>A (p.Arg1151Lys)
NM_004991.4(MECOM):c.3482A>G (p.Lys1161Arg)
NM_004991.4(MECOM):c.3484A>G (p.Met1162Val)
NM_004991.4(MECOM):c.3496C>A (p.Gln1166Lys)
NM_004991.4(MECOM):c.3504T>G (p.Ser1168=)
NM_004991.4(MECOM):c.3510T>C (p.Ala1170=)
NM_004991.4(MECOM):c.3513G>A (p.Glu1171=)
NM_004991.4(MECOM):c.3537T>C (p.His1179=)
NM_004991.4(MECOM):c.3538G>A (p.Val1180Met)
NM_004991.4(MECOM):c.3549A>G (p.Glu1183=)
NM_004991.4(MECOM):c.3560C>T (p.Pro1187Leu)
NM_004991.4(MECOM):c.3561G>A (p.Pro1187=)
NM_004991.4(MECOM):c.3565C>A (p.His1189Asn)
NM_004991.4(MECOM):c.3565C>T (p.His1189Tyr)
NM_004991.4(MECOM):c.3584A>G (p.Gln1195Arg)
NM_004991.4(MECOM):c.3585+12C>G
NM_004991.4(MECOM):c.3585+3A>G
NM_004991.4(MECOM):c.3585+7A>C
NM_004991.4(MECOM):c.3586-13C>T
NM_004991.4(MECOM):c.3586-18C>T
NM_004991.4(MECOM):c.3586-1G>C
NM_004991.4(MECOM):c.3591T>C (p.Tyr1197=)
NM_004991.4(MECOM):c.3600_3601delinsTA (p.Met1200_Leu1201delinsIleMet)
NM_004991.4(MECOM):c.3601C>T (p.Leu1201=)
NM_004991.4(MECOM):c.3609G>C (p.Leu1203=)
NM_004991.4(MECOM):c.3619G>C (p.Glu1207Gln)
NM_004991.4(MECOM):c.3635C>T (p.Thr1212Ile)
NM_004991.4(MECOM):c.3653A>G (p.Asn1218Ser)
NM_004991.4(MECOM):c.3655G>A (p.Val1219Met)
NM_004991.4(MECOM):c.3655G>C (p.Val1219Leu)
NM_004991.4(MECOM):c.3655G>T (p.Val1219Leu)
NM_004991.4(MECOM):c.3662A>T (p.His1221Leu)
NM_004991.4(MECOM):c.3666T>G (p.Ser1222Arg)
NM_004991.4(MECOM):c.3680C>T (p.Ala1227Val)
NM_004991.4(MECOM):c.3681G>A (p.Ala1227=)
NM_004991.4(MECOM):c.3703T>A (p.Ser1235Thr)
NM_004991.4(MECOM):c.3714C>T (p.His1238=)
NM_004991.4(MECOM):c.3715G>A (p.Val1239Ile)
NM_004991.4(MECOM):c.3720A>T (p.Ter1240Cys)
NM_004991.4(MECOM):c.375+118100T>G
NM_004991.4(MECOM):c.510G>T (p.Gln170His)
NM_004991.4(MECOM):c.54T>C (p.Tyr18=)
NM_004991.4(MECOM):c.577G>T (p.Asp193Tyr)
NM_004991.4(MECOM):c.603G>A (p.Pro201=)
NM_004991.4(MECOM):c.613+16G>A
NM_004991.4(MECOM):c.613+1G>C
NM_004991.4(MECOM):c.613+3T>G
NM_004991.4(MECOM):c.633C>A (p.Cys211Ter)
NM_004991.4(MECOM):c.633C>T (p.Cys211=)
NM_004991.4(MECOM):c.634G>A (p.Glu212Lys)
NM_004991.4(MECOM):c.665C>T (p.Ala222Val)
NM_004991.4(MECOM):c.678T>C (p.Asp226=)
NM_004991.4(MECOM):c.692C>T (p.Pro231Leu)
NM_004991.4(MECOM):c.700A>G (p.Thr234Ala)
NM_004991.4(MECOM):c.702T>C (p.Thr234=)
NM_004991.4(MECOM):c.718T>C (p.Ser240Pro)
NM_004991.4(MECOM):c.740A>G (p.Gln247Arg)
NM_004991.4(MECOM):c.743A>C (p.Gln248Pro)
NM_004991.4(MECOM):c.750C>T (p.Leu250=)
NM_004991.4(MECOM):c.751G>A (p.Glu251Lys)
NM_004991.4(MECOM):c.755G>A (p.Ser252Asn)
NM_004991.4(MECOM):c.782C>G (p.Thr261Arg)
NM_004991.4(MECOM):c.782C>T (p.Thr261Met)
NM_004991.4(MECOM):c.783G>A (p.Thr261=)
NM_004991.4(MECOM):c.791A>T (p.Glu264Val)
NM_004991.4(MECOM):c.796A>G (p.Lys266Glu)
NM_004991.4(MECOM):c.798G>A (p.Lys266=)
NM_004991.4(MECOM):c.79G>T (p.Glu27Ter) rs757020094
NM_004991.4(MECOM):c.805G>A (p.Asp269Asn)
NM_004991.4(MECOM):c.831-11T>C
NM_004991.4(MECOM):c.831-13G>A
NM_004991.4(MECOM):c.831-17T>A
NM_004991.4(MECOM):c.840A>T (p.Lys280Asn)
NM_004991.4(MECOM):c.856A>G (p.Thr286Ala)
NM_004991.4(MECOM):c.880G>C (p.Asp294His)
NM_004991.4(MECOM):c.884A>G (p.Gln295Arg)
NM_004991.4(MECOM):c.891C>G (p.Pro297=)
NM_004991.4(MECOM):c.907A>G (p.Lys303Glu)
NM_004991.4(MECOM):c.922C>T (p.Arg308Cys)
NM_004991.4(MECOM):c.923G>A (p.Arg308His)
NM_004991.4(MECOM):c.927C>T (p.His309=)
NM_004991.4(MECOM):c.955T>C (p.Tyr319His)
NM_004991.4(MECOM):c.960A>C (p.Glu320Asp)
NM_004991.4(MECOM):c.978+11T>C
NM_004991.4(MECOM):c.978+5A>G
NM_004991.4(MECOM):c.979-18G>A
NM_004991.4(MECOM):c.979-8C>T
NM_004991.4(MECOM):c.985A>G (p.Thr329Ala)
NM_004991.4(MECOM):c.986C>T (p.Thr329Met)
NM_004991.4(MECOM):c.993T>C (p.Pro331=)
NM_004991.4(MECOM):c.999C>T (p.Asn333=)

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