ClinVar Miner

List of variants in gene MET studied for carcinoma

Included ClinVar conditions (242):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2856
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.*1428G>A rs1621 0.63315
NM_000245.4(MET):c.*2240G>A rs6566 0.34157
NM_000245.4(MET):c.4092G>A (p.Pro1364=) rs41737 0.34093
NM_000245.4(MET):c.*1028A>G rs41738 0.34071
NM_000245.4(MET):c.4017G>A (p.Ala1339=) rs2023748 0.34017
NM_000245.4(MET):c.*1326A>G rs41739 0.34010
NM_000245.4(MET):c.3858C>T (p.Asp1286=) rs41736 0.33828
NM_000245.4(MET):c.1944A>G (p.Gln648=) rs13223756 0.16754
NM_000245.4(MET):c.534C>T (p.Ser178=) rs35775721 0.07211
NM_000245.4(MET):c.*684G>A rs12540703 0.05662
NM_000245.4(MET):c.1131C>T (p.Ile377=) rs28444388 0.05590
NM_000245.4(MET):c.144G>A (p.Ala48=) rs11762213 0.03399
NM_000245.4(MET):c.*216C>A rs149188493 0.02223
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_000245.4(MET):c.-14-13C>T rs36080330 0.00978
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000245.4(MET):c.1085T>C (p.Met362Thr) rs77523018 0.00742
NM_000245.4(MET):c.390C>T (p.Leu130=) rs150588908 0.00740
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_000245.4(MET):c.*2202G>A rs14456 0.00515
NM_000245.4(MET):c.*1987C>T rs76322625 0.00499
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_000245.4(MET):c.*1220G>A rs139535303 0.00336
NM_000245.4(MET):c.-14-4G>A rs144126521 0.00331
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000245.4(MET):c.*787G>A rs143472935 0.00290
NM_000245.4(MET):c.*231T>G rs59399612 0.00287
NM_000245.4(MET):c.*1010G>T rs150534017 0.00272
NM_000245.4(MET):c.*87G>A rs41281081 0.00250
NM_000245.4(MET):c.3522T>C (p.His1174=) rs146651797 0.00243
NM_000245.4(MET):c.2365-21G>C rs140853140 0.00242
NM_000245.4(MET):c.*385G>A rs181068390 0.00235
NM_000245.4(MET):c.*201C>T rs1129355 0.00192
NM_000245.4(MET):c.1715G>A (p.Ser572Asn) rs199771406 0.00188
NM_000245.4(MET):c.2662C>T (p.His888Tyr) rs115574135 0.00166
NM_000245.4(MET):c.*2100C>T rs190739281 0.00165
NM_000245.4(MET):c.654G>A (p.Arg218=) rs35284565 0.00153
NM_000245.4(MET):c.*1871G>A rs139377965 0.00152
NM_000245.4(MET):c.*1224C>T rs149713628 0.00150
NM_000245.4(MET):c.2584-9T>C rs74994656 0.00119
NM_000245.4(MET):c.*656G>A rs531456758 0.00104
NM_000245.4(MET):c.*602C>T rs147343288 0.00093
NM_000245.4(MET):c.*1886T>A rs536185931 0.00076
NM_000245.4(MET):c.*944A>G rs565768785 0.00076
NM_000245.4(MET):c.3549C>T (p.Gly1183=) rs371165052 0.00074
NM_000245.4(MET):c.798G>A (p.Arg266=) rs185301166 0.00073
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_000245.4(MET):c.467C>T (p.Ser156Leu) rs56311081 0.00061
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_000245.4(MET):c.*1636C>T rs186175651 0.00057
NM_000245.4(MET):c.71G>A (p.Gly24Glu) rs180985111 0.00055
NM_000245.4(MET):c.3523-12C>G rs186524917 0.00053
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145 0.00053
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110 0.00045
NM_000245.4(MET):c.103A>T (p.Met35Leu) rs375353223 0.00041
NM_000245.4(MET):c.3521A>G (p.His1174Arg) rs372830789 0.00041
NM_000245.4(MET):c.2715C>T (p.Ser905=) rs45572835 0.00039
NM_000245.4(MET):c.3810C>T (p.Gly1270=) rs200865810 0.00039
NM_000245.4(MET):c.901A>G (p.Thr301Ala) rs201687037 0.00038
NM_000245.4(MET):c.2198C>T (p.Thr733Ile) rs201271860 0.00029
NM_000245.4(MET):c.3028+11G>T rs369191825 0.00029
NM_000245.4(MET):c.1191C>T (p.Cys397=) rs35763409 0.00028
NM_000245.4(MET):c.1966-17T>C rs555288487 0.00027
NM_000245.4(MET):c.*1637G>A rs534514626 0.00026
NM_000245.4(MET):c.*655C>T rs563978117 0.00026
NM_000245.4(MET):c.*2079G>A rs757859772 0.00024
NM_000245.4(MET):c.1932C>T (p.His644=) rs45520237 0.00024
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_000245.4(MET):c.*1784T>A rs554029534 0.00023
NM_000245.4(MET):c.1076G>A (p.Arg359Gln) rs201274041 0.00022
NM_000245.4(MET):c.3632+42C>G rs376183825 0.00021
NM_000245.4(MET):c.4105T>C (p.Leu1369=) rs45575438 0.00021
NM_000245.4(MET):c.*1593G>A rs764929802 0.00020
NM_000245.4(MET):c.2568T>C (p.Asn856=) rs118057172 0.00020
NM_000245.4(MET):c.3522+12G>T rs200624981 0.00019
NM_000245.4(MET):c.665C>T (p.Thr222Met) rs200776610 0.00019
NM_000245.4(MET):c.2133C>A (p.Thr711=) rs747803111 0.00017
NM_000245.4(MET):c.4091C>T (p.Pro1364Leu) rs752791731 0.00017
NM_000245.4(MET):c.1201-14A>G rs762306750 0.00016
NM_000245.4(MET):c.1263C>T (p.Thr421=) rs45499391 0.00016
NM_000245.4(MET):c.1412G>A (p.Gly471Glu) rs373312981 0.00016
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr) rs45578433 0.00016
NM_000245.4(MET):c.1771C>T (p.Arg591Trp) rs45602940 0.00015
NM_000245.4(MET):c.40C>T (p.Leu14Phe) rs763344951 0.00015
NM_000245.4(MET):c.1233G>A (p.Ala411=) rs374081963 0.00014
NM_000245.4(MET):c.1270T>C (p.Leu424=) rs372229471 0.00014
NM_000245.4(MET):c.1975A>T (p.Ile659Leu) rs753958204 0.00014
NM_000245.4(MET):c.2365-14G>T rs769247886 0.00013
NM_000245.4(MET):c.289C>G (p.Pro97Ala) rs199736573 0.00012
NM_000245.4(MET):c.3798+5T>C rs368150874 0.00012
NM_000245.4(MET):c.2378G>A (p.Arg793His) rs199643166 0.00011
NM_000245.4(MET):c.2548A>G (p.Ile850Val) rs200524064 0.00011
NM_000245.4(MET):c.2684C>T (p.Thr895Met) rs199502137 0.00011
NM_000245.4(MET):c.2110A>G (p.Asn704Asp) rs373030463 0.00010
NM_000245.4(MET):c.*1714C>A rs747850853 0.00009
NM_000245.4(MET):c.110T>C (p.Val37Ala) rs201315884 0.00009
NM_000245.4(MET):c.1863-12T>G rs35189619 0.00009
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000245.4(MET):c.3236A>G (p.His1079Arg) rs758292223 0.00009
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251 0.00008
NM_000245.4(MET):c.2543T>C (p.Val848Ala) rs587782205 0.00008
NM_000245.4(MET):c.280G>C (p.Asp94His) rs899151863 0.00008
NM_000245.4(MET):c.3497G>A (p.Arg1166Gln) rs199763277 0.00008
NM_000245.4(MET):c.*1878A>G rs770910579 0.00007
NM_000245.4(MET):c.1862C>T (p.Thr621Ile) rs375951814 0.00007
NM_000245.4(MET):c.1989G>A (p.Ser663=) rs201180585 0.00007
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu) rs370529693 0.00007
NM_000245.4(MET):c.345C>T (p.Asn115=) rs774038166 0.00007
NM_000245.4(MET):c.803C>T (p.Thr268Ile) rs757427533 0.00007
NM_000245.4(MET):c.960G>A (p.Ala320=) rs191198682 0.00007
NM_000245.4(MET):c.*803T>A rs1001801655 0.00006
NM_000245.4(MET):c.105G>C (p.Met35Ile) rs376244358 0.00006
NM_000245.4(MET):c.12C>T (p.Pro4=) rs772251895 0.00006
NM_000245.4(MET):c.22G>A (p.Ala8Thr) rs758564871 0.00006
NM_000245.4(MET):c.3168T>C (p.Ser1056=) rs376069508 0.00006
NM_000245.4(MET):c.3477C>T (p.Tyr1159=) rs372238373 0.00006
NM_000245.4(MET):c.36C>T (p.Leu12=) rs188625702 0.00006
NM_000245.4(MET):c.3811G>A (p.Val1271Met) rs751186512 0.00006
NM_000245.4(MET):c.4075G>A (p.Val1359Ile) rs752669237 0.00006
NM_000245.4(MET):c.4134G>A (p.Glu1378=) rs879254328 0.00006
NM_000245.4(MET):c.818C>A (p.Thr273Asn) rs368144654 0.00006
NM_000245.4(MET):c.900C>T (p.Leu300=) rs540354779 0.00006
NM_000245.4(MET):c.100G>A (p.Glu34Lys) rs764246939 0.00005
NM_000245.4(MET):c.1063G>A (p.Glu355Lys) rs561295443 0.00005
NM_000245.4(MET):c.1392+17A>G rs747447086 0.00005
NM_000245.4(MET):c.1659C>T (p.Ser553=) rs377284387 0.00005
NM_000245.4(MET):c.1956C>T (p.Phe652=) rs756154521 0.00005
NM_000245.4(MET):c.1988C>T (p.Ser663Leu) rs376459715 0.00005
NM_000245.4(MET):c.2674G>A (p.Val892Ile) rs761243391 0.00005
NM_000245.4(MET):c.3065G>A (p.Arg1022Gln) rs45612435 0.00005
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln) rs369312680 0.00005
NM_000245.4(MET):c.632T>G (p.Leu211Trp) rs45483396 0.00005
NM_000245.4(MET):c.789G>A (p.Thr263=) rs554190225 0.00005
NM_000245.4(MET):c.*221G>A rs886061946 0.00004
NM_000245.4(MET):c.*76C>T rs527496385 0.00004
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00004
NM_000245.4(MET):c.1030G>A (p.Gly344Arg) rs761768345 0.00004
NM_000245.4(MET):c.1038C>T (p.Phe346=) rs376235685 0.00004
NM_000245.4(MET):c.1062C>T (p.Ala354=) rs755166920 0.00004
NM_000245.4(MET):c.1132G>A (p.Val378Ile) rs749738523 0.00004
NM_000245.4(MET):c.1278C>T (p.Arg426=) rs748508881 0.00004
NM_000245.4(MET):c.1320A>G (p.Thr440=) rs763726060 0.00004
NM_000245.4(MET):c.1359T>C (p.Ala453=) rs755985210 0.00004
NM_000245.4(MET):c.1374A>G (p.Ser458=) rs755165691 0.00004
NM_000245.4(MET):c.1392+14G>A rs529823741 0.00004
NM_000245.4(MET):c.142G>A (p.Ala48Thr) rs374050750 0.00004
NM_000245.4(MET):c.1528-13C>A rs751613983 0.00004
NM_000245.4(MET):c.1863-10T>C rs758048261 0.00004
NM_000245.4(MET):c.1881T>C (p.Gly627=) rs200050499 0.00004
NM_000245.4(MET):c.1984A>G (p.Ile662Val) rs765244598 0.00004
NM_000245.4(MET):c.1992G>A (p.Pro664=) rs373842614 0.00004
NM_000245.4(MET):c.2103-4T>C rs753740913 0.00004
NM_000245.4(MET):c.2113A>G (p.Ser705Gly) rs781110968 0.00004
NM_000245.4(MET):c.2342A>C (p.Glu781Ala) rs771231484 0.00004
NM_000245.4(MET):c.2583+6A>G rs769647929 0.00004
NM_000245.4(MET):c.2584-8C>G rs370833501 0.00004
NM_000245.4(MET):c.2677T>A (p.Leu893Ile) rs376104371 0.00004
NM_000245.4(MET):c.2825C>T (p.Ser942Leu) rs375576430 0.00004
NM_000245.4(MET):c.2909G>A (p.Arg970His) rs45607832 0.00004
NM_000245.4(MET):c.2913C>T (p.Tyr971=) rs371379572 0.00004
NM_000245.4(MET):c.3118T>C (p.Ser1040Pro) rs771328219 0.00004
NM_000245.4(MET):c.341A>T (p.Asp114Val) rs773659883 0.00004
NM_000245.4(MET):c.3459G>A (p.Pro1153=) rs201245213 0.00004
NM_000245.4(MET):c.3489A>T (p.Gly1163=) rs753101831 0.00004
NM_000245.4(MET):c.3842C>G (p.Ala1281Gly) rs750337451 0.00004
NM_000245.4(MET):c.4016C>T (p.Ala1339Val) rs1453842331 0.00004
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr) rs768188910 0.00004
NM_000245.4(MET):c.428G>A (p.Arg143Gln) rs35469582 0.00004
NM_000245.4(MET):c.510C>G (p.Ser170Arg) rs587778442 0.00004
NM_000245.4(MET):c.739A>G (p.Ile247Val) rs749728359 0.00004
NM_000245.4(MET):c.*2051C>T rs886061951 0.00003
NM_000245.4(MET):c.*296G>C rs1237383281 0.00003
NM_000245.4(MET):c.*397A>G rs559231345 0.00003
NM_000245.4(MET):c.1235G>A (p.Arg412His) rs371463233 0.00003
NM_000245.4(MET):c.1279G>A (p.Val427Ile) rs376364468 0.00003
NM_000245.4(MET):c.1291A>G (p.Met431Val) rs766929091 0.00003
NM_000245.4(MET):c.1408T>A (p.Ser470Thr) rs1484724510 0.00003
NM_000245.4(MET):c.1414C>T (p.Pro472Ser) rs376589619 0.00003
NM_000245.4(MET):c.1510G>T (p.Val504Phe) rs587780735 0.00003
NM_000245.4(MET):c.1626C>T (p.His542=) rs762898756 0.00003
NM_000245.4(MET):c.1643C>T (p.Ser548Leu) rs767715328 0.00003
NM_000245.4(MET):c.1701+14A>G rs768638354 0.00003
NM_000245.4(MET):c.1723C>A (p.Leu575Ile) rs587778445 0.00003
NM_000245.4(MET):c.1810C>G (p.Leu604Val) rs201861645 0.00003
NM_000245.4(MET):c.1853C>T (p.Thr618Met) rs753407699 0.00003
NM_000245.4(MET):c.1854G>A (p.Thr618=) rs367764141 0.00003
NM_000245.4(MET):c.1972G>A (p.Val658Ile) rs587778446 0.00003
NM_000245.4(MET):c.2055G>A (p.Gly685=) rs766401668 0.00003
NM_000245.4(MET):c.2271G>A (p.Gly757=) rs755816605 0.00003
NM_000245.4(MET):c.2325G>T (p.Met775Ile) rs748086754 0.00003
NM_000245.4(MET):c.2555T>A (p.Met852Lys) rs369758288 0.00003
NM_000245.4(MET):c.2658C>T (p.His886=) rs748950533 0.00003
NM_000245.4(MET):c.2769A>C (p.Val923=) rs371015065 0.00003
NM_000245.4(MET):c.2888-16T>C rs1035141881 0.00003
NM_000245.4(MET):c.2971C>T (p.Pro991Ser) rs768678989 0.00003
NM_000245.4(MET):c.3221G>A (p.Ser1074Asn) rs752641437 0.00003
NM_000245.4(MET):c.3230T>C (p.Ile1077Thr) rs1177400289 0.00003
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala) rs201037977 0.00003
NM_000245.4(MET):c.3522+15A>G rs748010112 0.00003
NM_000245.4(MET):c.3633-4G>C rs1477354447 0.00003
NM_000245.4(MET):c.37G>A (p.Val13Met) rs781777052 0.00003
NM_000245.4(MET):c.4086C>T (p.Val1362=) rs753757242 0.00003
NM_000245.4(MET):c.4100C>G (p.Ser1367Cys) rs747239403 0.00003
NM_000245.4(MET):c.4117G>C (p.Asp1373His) rs398123570 0.00003
NM_000245.4(MET):c.617T>C (p.Phe206Ser) rs746295363 0.00003
NM_000245.4(MET):c.639G>A (p.Ser213=) rs587780738 0.00003
NM_000245.4(MET):c.666G>A (p.Thr222=) rs1444020594 0.00003
NM_000245.4(MET):c.682T>C (p.Phe228Leu) rs921083171 0.00003
NM_000245.4(MET):c.690G>A (p.Thr230=) rs200138253 0.00003
NM_000245.4(MET):c.762A>C (p.Glu254Asp) rs760278126 0.00003
NM_000245.4(MET):c.788C>T (p.Thr263Met) rs764052874 0.00003
NM_000245.4(MET):c.900C>G (p.Leu300=) rs540354779 0.00003
NM_000245.4(MET):c.*530G>A rs185897782 0.00002
NM_000245.4(MET):c.1027T>C (p.Phe343Leu) rs774022115 0.00002
NM_000245.4(MET):c.1081G>T (p.Ala361Ser) rs786202310 0.00002
NM_000245.4(MET):c.1201-15C>T rs1392417542 0.00002
NM_000245.4(MET):c.1234C>T (p.Arg412Cys) rs367628460 0.00002
NM_000245.4(MET):c.1343G>A (p.Gly448Glu) rs750256779 0.00002
NM_000245.4(MET):c.1382G>A (p.Arg461His) rs544274181 0.00002
NM_000245.4(MET):c.1398G>A (p.Val466=) rs779091695 0.00002
NM_000245.4(MET):c.13G>A (p.Ala5Thr) rs765444467 0.00002
NM_000245.4(MET):c.1532C>T (p.Thr511Met) rs371124109 0.00002
NM_000245.4(MET):c.1533G>A (p.Thr511=) rs866306366 0.00002
NM_000245.4(MET):c.1617C>T (p.Gly539=) rs776490266 0.00002
NM_000245.4(MET):c.1636G>A (p.Val546Met) rs774462373 0.00002
NM_000245.4(MET):c.1640G>A (p.Arg547Gln) rs761951444 0.00002
NM_000245.4(MET):c.1749A>G (p.Ile583Met) rs776805376 0.00002
NM_000245.4(MET):c.1766G>T (p.Gly589Val) rs943753621 0.00002
NM_000245.4(MET):c.1906A>G (p.Met636Val) rs761183186 0.00002
NM_000245.4(MET):c.1965+14T>C rs543293293 0.00002
NM_000245.4(MET):c.2102+12T>G rs199685502 0.00002
NM_000245.4(MET):c.2215C>T (p.Arg739Cys) rs45587940 0.00002
NM_000245.4(MET):c.2216G>A (p.Arg739His) rs45553236 0.00002
NM_000245.4(MET):c.2264+12C>T rs1220756470 0.00002
NM_000245.4(MET):c.2319G>A (p.Pro773=) rs141733128 0.00002
NM_000245.4(MET):c.2326G>C (p.Val776Leu) rs771976817 0.00002
NM_000245.4(MET):c.232C>T (p.Leu78Phe) rs766815155 0.00002
NM_000245.4(MET):c.2344G>A (p.Ala782Thr) rs1262601648 0.00002
NM_000245.4(MET):c.2373A>G (p.Gln791=) rs760294359 0.00002
NM_000245.4(MET):c.2377C>T (p.Arg793Cys) rs45440991 0.00002
NM_000245.4(MET):c.2437C>A (p.Leu813Ile) rs745345346 0.00002
NM_000245.4(MET):c.2455G>A (p.Ala819Thr) rs786203672 0.00002
NM_000245.4(MET):c.2562T>C (p.Asn854=) rs1060504946 0.00002
NM_000245.4(MET):c.2585G>C (p.Gly862Ala) rs1394626435 0.00002
NM_000245.4(MET):c.2702T>C (p.Leu901Pro) rs755194593 0.00002
NM_000245.4(MET):c.2723A>G (p.Asn908Ser) rs1478309975 0.00002
NM_000245.4(MET):c.2731-8A>T rs538856434 0.00002
NM_000245.4(MET):c.2755G>A (p.Val919Ile) rs759522148 0.00002
NM_000245.4(MET):c.2787G>C (p.Gln929His) rs908653562 0.00002
NM_000245.4(MET):c.3034T>C (p.Phe1012Leu) rs376243090 0.00002
NM_000245.4(MET):c.3054C>T (p.Asn1018=) rs369148519 0.00002
NM_000245.4(MET):c.3199C>A (p.Gln1067Lys) rs45628136 0.00002
NM_000245.4(MET):c.3259+18G>C rs746091644 0.00002
NM_000245.4(MET):c.3296A>G (p.Asp1099Gly) rs780431412 0.00002
NM_000245.4(MET):c.3355G>A (p.Gly1119Arg) rs1191752014 0.00002
NM_000245.4(MET):c.3378C>T (p.Thr1126=) rs201111132 0.00002
NM_000245.4(MET):c.3451G>A (p.Gly1151Arg) rs534974144 0.00002
NM_000245.4(MET):c.3474A>G (p.Pro1158=) rs200659843 0.00002
NM_000245.4(MET):c.34C>T (p.Leu12Phe) rs764455004 0.00002
NM_000245.4(MET):c.3522+14C>T rs1353133879 0.00002
NM_000245.4(MET):c.3702C>T (p.Tyr1234=) rs201747580 0.00002
NM_000245.4(MET):c.3705T>C (p.Tyr1235=) rs754467674 0.00002
NM_000245.4(MET):c.3880G>A (p.Val1294Ile) rs1263785859 0.00002
NM_000245.4(MET):c.4011A>G (p.Ile1337Met) rs376418811 0.00002
NM_000245.4(MET):c.4057A>G (p.Asn1353Asp) rs374383028 0.00002
NM_000245.4(MET):c.4060G>A (p.Ala1354Thr) rs761522694 0.00002
NM_000245.4(MET):c.4074C>T (p.Asn1358=) rs772860611 0.00002
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser) rs765332671 0.00002
NM_000245.4(MET):c.4127A>C (p.Asp1376Ala) rs760339018 0.00002
NM_000245.4(MET):c.4140C>T (p.Asp1380=) rs370368651 0.00002
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln) rs752694306 0.00002
NM_000245.4(MET):c.535G>A (p.Ala179Thr) rs753697730 0.00002
NM_000245.4(MET):c.623A>G (p.Asp208Gly) rs587782086 0.00002
NM_000245.4(MET):c.743A>T (p.Lys248Met) rs769181927 0.00002
NM_000245.4(MET):c.781T>C (p.Phe261Leu) rs765061513 0.00002
NM_000245.4(MET):c.852A>G (p.Ile284Met) rs759227622 0.00002
NM_000245.4(MET):c.86C>T (p.Ala29Val) rs775439897 0.00002
NM_000245.4(MET):c.939G>A (p.Val313=) rs375716972 0.00002
NM_000245.4(MET):c.*1477C>T rs750893461 0.00001
NM_000245.4(MET):c.*41A>G rs771518812 0.00001
NM_000245.4(MET):c.-7T>C rs863224376 0.00001
NM_000245.4(MET):c.1029C>G (p.Phe343Leu) rs56340719 0.00001
NM_000245.4(MET):c.102G>C (p.Glu34Asp) rs1296330997 0.00001
NM_000245.4(MET):c.1033G>T (p.Val345Leu) rs1232896056 0.00001
NM_000245.4(MET):c.1068A>G (p.Pro356=) rs934426317 0.00001
NM_000245.4(MET):c.107A>G (p.Asn36Ser) rs1282716584 0.00001
NM_000245.4(MET):c.1099A>G (p.Ile367Val) rs774146015 0.00001
NM_000245.4(MET):c.109G>T (p.Val37Leu) rs863224692 0.00001
NM_000245.4(MET):c.1101C>A (p.Ile367=) rs747940150 0.00001
NM_000245.4(MET):c.1113C>T (p.Asn371=) rs772014416 0.00001
NM_000245.4(MET):c.1137C>T (p.Asn379=) rs1060504942 0.00001
NM_000245.4(MET):c.1159C>T (p.Gln387Ter) rs757846126 0.00001
NM_000245.4(MET):c.1161G>A (p.Gln387=) rs1476181476 0.00001
NM_000245.4(MET):c.1171G>A (p.Gly391Arg) rs587778443 0.00001
NM_000245.4(MET):c.1173A>G (p.Gly391=) rs753309112 0.00001
NM_000245.4(MET):c.1178A>G (p.Asn393Ser) rs754635450 0.00001
NM_000245.4(MET):c.1183G>A (p.Glu395Lys) rs778469367 0.00001
NM_000245.4(MET):c.1185G>A (p.Glu395=) rs1369230650 0.00001
NM_000245.4(MET):c.1200+8A>G rs879254331 0.00001
NM_000245.4(MET):c.1218A>T (p.Ser406=) rs1358705636 0.00001
NM_000245.4(MET):c.1221A>G (p.Ser407=) rs200003116 0.00001
NM_000245.4(MET):c.1222G>A (p.Gly408Ser) rs1289461217 0.00001
NM_000245.4(MET):c.1224C>G (p.Gly408=) rs965135961 0.00001
NM_000245.4(MET):c.1232C>T (p.Ala411Val) rs201154533 0.00001
NM_000245.4(MET):c.1237C>T (p.Arg413Cys) rs201980687 0.00001
NM_000245.4(MET):c.1238G>A (p.Arg413His) rs375391602 0.00001
NM_000245.4(MET):c.1241A>C (p.Asp414Ala) rs1554388638 0.00001
NM_000245.4(MET):c.1242T>A (p.Asp414Glu) rs1230741853 0.00001
NM_000245.4(MET):c.1266A>G (p.Thr422=) rs1407970053 0.00001
NM_000245.4(MET):c.1277G>A (p.Arg426His) rs986139438 0.00001
NM_000245.4(MET):c.1303A>G (p.Ser435Gly) rs1186230260 0.00001
NM_000245.4(MET):c.1305C>T (p.Ser435=) rs762520351 0.00001
NM_000245.4(MET):c.1306G>A (p.Glu436Lys) rs200740468 0.00001
NM_000245.4(MET):c.1336A>G (p.Ile446Val) rs779022887 0.00001
NM_000245.4(MET):c.1365T>G (p.Leu455=) rs369639118 0.00001
NM_000245.4(MET):c.1371A>G (p.Thr457=) rs201632219 0.00001
NM_000245.4(MET):c.1392+12C>T rs201184739 0.00001
NM_000245.4(MET):c.1392+5G>C rs386833405 0.00001
NM_000245.4(MET):c.1393-6G>A rs202194405 0.00001
NM_000245.4(MET):c.1393-9G>A rs1474428051 0.00001
NM_000245.4(MET):c.1406G>A (p.Arg469Gln) rs752842662 0.00001
NM_000245.4(MET):c.141C>T (p.Thr47=) rs864622222 0.00001
NM_000245.4(MET):c.143C>G (p.Ala48Gly) rs80256822 0.00001
NM_000245.4(MET):c.1444G>A (p.Asp482Asn) rs863224694 0.00001
NM_000245.4(MET):c.1450C>T (p.His484Tyr) rs771272439 0.00001
NM_000245.4(MET):c.1451A>G (p.His484Arg) rs781545528 0.00001
NM_000245.4(MET):c.146A>G (p.Glu49Gly) rs370499060 0.00001
NM_000245.4(MET):c.1477G>C (p.Glu493Gln) rs965319455 0.00001
NM_000245.4(MET):c.147A>G (p.Glu49=) rs398123567 0.00001
NM_000245.4(MET):c.1490A>G (p.Asn497Ser) rs753713629 0.00001
NM_000245.4(MET):c.1497T>C (p.Asn499=) rs199922867 0.00001
NM_000245.4(MET):c.150A>G (p.Thr50=) rs199898841 0.00001
NM_000245.4(MET):c.1527+13C>T rs751742182 0.00001
NM_000245.4(MET):c.1527+6C>T rs1793387165 0.00001
NM_000245.4(MET):c.1528-13C>T rs751613983 0.00001
NM_000245.4(MET):c.1528-9T>C rs767768257 0.00001
NM_000245.4(MET):c.154A>G (p.Ile52Val) rs777336138 0.00001
NM_000245.4(MET):c.1552T>A (p.Leu518Met) rs780293990 0.00001
NM_000245.4(MET):c.1562G>A (p.Arg521Lys) rs1404664878 0.00001
NM_000245.4(MET):c.1572G>A (p.Gln524=) rs201878238 0.00001
NM_000245.4(MET):c.1584A>G (p.Gln528=) rs55755322 0.00001
NM_000245.4(MET):c.1596C>T (p.Ala532=) rs746546046 0.00001
NM_000245.4(MET):c.1604T>C (p.Phe535Ser) rs1402713307 0.00001
NM_000245.4(MET):c.162T>C (p.Asn54=) rs1791464380 0.00001
NM_000245.4(MET):c.1635T>C (p.Cys545=) rs1465559829 0.00001
NM_000245.4(MET):c.1639C>A (p.Arg547=) rs1047795344 0.00001
NM_000245.4(MET):c.1644G>A (p.Ser548=) rs750584257 0.00001
NM_000245.4(MET):c.1660G>A (p.Gly554Arg) rs200218511 0.00001
NM_000245.4(MET):c.1662G>A (p.Gly554=) rs779328011 0.00001
NM_000245.4(MET):c.1663A>G (p.Thr555Ala) rs370883654 0.00001
NM_000245.4(MET):c.1677G>T (p.Gln559His) rs1290346524 0.00001
NM_000245.4(MET):c.1693A>G (p.Ile565Val) rs745479104 0.00001
NM_000245.4(MET):c.1697A>G (p.Tyr566Cys) rs1445578353 0.00001
NM_000245.4(MET):c.1699A>G (p.Lys567Glu) rs769592729 0.00001
NM_000245.4(MET):c.1701+7A>T rs749081367 0.00001
NM_000245.4(MET):c.1702-20G>A rs201975734 0.00001
NM_000245.4(MET):c.1702-3T>C rs754686930 0.00001
NM_000245.4(MET):c.1706T>C (p.Phe569Ser) rs778626291 0.00001
NM_000245.4(MET):c.1719A>G (p.Ala573=) rs199776656 0.00001
NM_000245.4(MET):c.1739G>A (p.Arg580Lys) rs201975130 0.00001
NM_000245.4(MET):c.173A>G (p.His58Arg) rs374578653 0.00001
NM_000245.4(MET):c.1772G>A (p.Arg591Gln) rs775965879 0.00001
NM_000245.4(MET):c.1786T>A (p.Phe596Ile) rs879254332 0.00001
NM_000245.4(MET):c.180T>A (p.His60Gln) rs745740862 0.00001
NM_000245.4(MET):c.1812C>T (p.Leu604=) rs1412870024 0.00001
NM_000245.4(MET):c.1839T>G (p.Thr613=) rs373586966 0.00001
NM_000245.4(MET):c.1858A>G (p.Asn620Asp) rs372116735 0.00001
NM_000245.4(MET):c.1862+19T>C rs752484484 0.00001
NM_000245.4(MET):c.1862+7A>G rs1305399003 0.00001
NM_000245.4(MET):c.1862+8T>G rs1366709635 0.00001
NM_000245.4(MET):c.1863-3C>T rs1160304097 0.00001
NM_000245.4(MET):c.1863-6T>C rs1168220004 0.00001
NM_000245.4(MET):c.1887C>T (p.Ala629=) rs1191956704 0.00001
NM_000245.4(MET):c.1898A>G (p.His633Arg) rs45586239 0.00001
NM_000245.4(MET):c.1902C>T (p.Phe634=) rs772450441 0.00001
NM_000245.4(MET):c.1904A>G (p.Asn635Ser) rs773826297 0.00001
NM_000245.4(MET):c.1907T>A (p.Met636Lys) rs775011117 0.00001
NM_000245.4(MET):c.1937C>A (p.Thr646Lys) rs751307227 0.00001
NM_000245.4(MET):c.1966-9C>T rs750268644 0.00001
NM_000245.4(MET):c.196G>T (p.Ala66Ser) rs770341307 0.00001
NM_000245.4(MET):c.1986T>G (p.Ile662Met) rs1408351682 0.00001
NM_000245.4(MET):c.1998C>T (p.Tyr666=) rs566540058 0.00001
NM_000245.4(MET):c.199A>G (p.Thr67Ala) rs202047059 0.00001
NM_000245.4(MET):c.2046A>G (p.Leu682=) rs760609715 0.00001
NM_000245.4(MET):c.2073A>G (p.Ser691=) rs765318603 0.00001
NM_000245.4(MET):c.2076T>G (p.Ile692Met) rs752740791 0.00001
NM_000245.4(MET):c.2097A>G (p.Leu699=) rs199585804 0.00001
NM_000245.4(MET):c.2102+6G>A rs757561412 0.00001
NM_000245.4(MET):c.2102+7T>C rs1584941903 0.00001
NM_000245.4(MET):c.2102+9A>T rs201495740 0.00001
NM_000245.4(MET):c.2103-15A>T rs1471890312 0.00001
NM_000245.4(MET):c.2103-7T>G rs953588907 0.00001
NM_000245.4(MET):c.2118T>C (p.Ile706=) rs958023403 0.00001
NM_000245.4(MET):c.2124A>G (p.Glu708=) rs769757694 0.00001
NM_000245.4(MET):c.2128T>C (p.Tyr710His) rs1794273981 0.00001
NM_000245.4(MET):c.2130T>C (p.Tyr710=) rs775235138 0.00001
NM_000245.4(MET):c.2136A>G (p.Pro712=) rs774439479 0.00001
NM_000245.4(MET):c.2152A>C (p.Thr718Pro) rs1794275099 0.00001
NM_000245.4(MET):c.215T>C (p.Val72Ala) rs973796037 0.00001
NM_000245.4(MET):c.2191C>A (p.Arg731=) rs377336878 0.00001
NM_000245.4(MET):c.2192G>A (p.Arg731Gln) rs45446492 0.00001
NM_000245.4(MET):c.2196G>A (p.Glu732=) rs1376208948 0.00001
NM_000245.4(MET):c.2260A>G (p.Ile754Val) rs1060503539 0.00001
NM_000245.4(MET):c.2264+5G>A rs745547523 0.00001
NM_000245.4(MET):c.2265-23A>G rs750004615 0.00001
NM_000245.4(MET):c.2265-26G>A rs552953455 0.00001
NM_000245.4(MET):c.2265-71G>T rs1794306386 0.00001
NM_000245.4(MET):c.2278A>G (p.Ile760Val) rs786202191 0.00001
NM_000245.4(MET):c.2303A>G (p.Asn768Ser) rs749126070 0.00001
NM_000245.4(MET):c.230A>C (p.Asp77Ala) rs761221409 0.00001
NM_000245.4(MET):c.2333A>C (p.Asn778Thr) rs1205392044 0.00001
NM_000245.4(MET):c.2339A>G (p.His780Arg) rs375523121 0.00001
NM_000245.4(MET):c.2357T>C (p.Phe786Ser) rs1794313226 0.00001
NM_000245.4(MET):c.2362G>A (p.Val788Met) rs1489302008 0.00001
NM_000245.4(MET):c.2364+17A>G rs1169406106 0.00001
NM_000245.4(MET):c.2364+19G>T rs765711111 0.00001
NM_000245.4(MET):c.2365-11T>C rs1367439751 0.00001
NM_000245.4(MET):c.2365-12G>A rs986494432 0.00001
NM_000245.4(MET):c.2365-16T>C rs763349755 0.00001
NM_000245.4(MET):c.2370T>C (p.Cys790=) rs942322578 0.00001
NM_000245.4(MET):c.2381C>G (p.Ser794Cys) rs371939364 0.00001
NM_000245.4(MET):c.2393T>G (p.Ile798Arg) rs764960693 0.00001
NM_000245.4(MET):c.2414C>T (p.Ser805Phe) rs1410859976 0.00001
NM_000245.4(MET):c.241G>T (p.Val81Phe) rs757883355 0.00001
NM_000245.4(MET):c.2435A>C (p.Gln812Pro) rs777833095 0.00001
NM_000245.4(MET):c.2439C>T (p.Leu813=) rs757296777 0.00001
NM_000245.4(MET):c.2440C>A (p.Pro814Thr) rs1052270861 0.00001
NM_000245.4(MET):c.2441C>T (p.Pro814Leu) rs781452657 0.00001
NM_000245.4(MET):c.2466G>A (p.Met822Ile) rs780538636 0.00001
NM_000245.4(MET):c.2471A>G (p.Asp824Gly) rs1446482547 0.00001
NM_000245.4(MET):c.2493T>G (p.Phe831Leu) rs749730267 0.00001
NM_000245.4(MET):c.2496T>C (p.Asp832=) rs769035394 0.00001
NM_000245.4(MET):c.249G>C (p.Glu83Asp) rs751158831 0.00001
NM_000245.4(MET):c.2501T>C (p.Ile834Thr) rs1215872095 0.00001
NM_000245.4(MET):c.2527C>G (p.Pro843Ala) rs905891313 0.00001
NM_000245.4(MET):c.2528C>G (p.Pro843Arg) rs762228405 0.00001
NM_000245.4(MET):c.2547G>C (p.Met849Ile) rs747989932 0.00001
NM_000245.4(MET):c.2554A>G (p.Met852Val) rs762863861 0.00001
NM_000245.4(MET):c.255G>A (p.Lys85=) rs1327946446 0.00001
NM_000245.4(MET):c.2583+11C>T rs780485505 0.00001
NM_000245.4(MET):c.2583+7A>T rs756403758 0.00001
NM_000245.4(MET):c.2591A>G (p.Asp864Gly) rs778309347 0.00001
NM_000245.4(MET):c.2600C>G (p.Pro867Arg) rs983062105 0.00001
NM_000245.4(MET):c.2613A>C (p.Lys871Asn) rs1385709850 0.00001
NM_000245.4(MET):c.2667T>G (p.Ser889=) rs1794770224 0.00001
NM_000245.4(MET):c.2673C>T (p.Ala891=) rs561131509 0.00001
NM_000245.4(MET):c.2685G>A (p.Thr895=) rs760722037 0.00001
NM_000245.4(MET):c.268C>T (p.Leu90=) rs376966336 0.00001
NM_000245.4(MET):c.2693A>G (p.Asn898Ser) rs766430458 0.00001
NM_000245.4(MET):c.2698C>G (p.Leu900Val) rs1398243931 0.00001
NM_000245.4(MET):c.2710A>T (p.Asn904Tyr) rs1313347428 0.00001
NM_000245.4(MET):c.2714G>A (p.Ser905Asn) rs753091019 0.00001
NM_000245.4(MET):c.2716G>A (p.Glu906Lys) rs778115147 0.00001
NM_000245.4(MET):c.2731-10T>C rs1360184564 0.00001
NM_000245.4(MET):c.2731-9C>G rs1794829593 0.00001
NM_000245.4(MET):c.2754C>T (p.Thr918=) rs770886012 0.00001
NM_000245.4(MET):c.2795C>T (p.Thr932Ile) rs758486777 0.00001
NM_000245.4(MET):c.279A>C (p.Pro93=) rs780928472 0.00001
NM_000245.4(MET):c.2802G>C (p.Leu934Phe) rs1361155132 0.00001
NM_000245.4(MET):c.2805T>A (p.Ile935=) rs763131600 0.00001
NM_000245.4(MET):c.280G>T (p.Asp94Tyr) rs899151863 0.00001
NM_000245.4(MET):c.281A>G (p.Asp94Gly) rs368328347 0.00001
NM_000245.4(MET):c.2851T>C (p.Phe951Leu) rs756670611 0.00001
NM_000245.4(MET):c.2870A>G (p.Lys957Arg) rs1794836962 0.00001
NM_000245.4(MET):c.2888-17T>C rs767063578 0.00001
NM_000245.4(MET):c.2905G>C (p.Val969Leu) rs757925979 0.00001
NM_000245.4(MET):c.2914G>A (p.Asp972Asn) rs756031094 0.00001
NM_000245.4(MET):c.291A>G (p.Pro97=) rs1584876383 0.00001
NM_000245.4(MET):c.2974A>G (p.Thr992Ala) rs774433287 0.00001
NM_000245.4(MET):c.2977A>G (p.Thr993Ala) rs587778441 0.00001
NM_000245.4(MET):c.297G>A (p.Gln99=) rs1584876390 0.00001
NM_000245.4(MET):c.2986G>A (p.Val996Ile) rs773447798 0.00001
NM_000245.4(MET):c.302G>A (p.Cys101Tyr) rs1791473684 0.00001
NM_000245.4(MET):c.3030T>A (p.Asp1010Glu) rs565938550 0.00001
NM_000245.4(MET):c.305G>A (p.Ser102Asn) rs779897466 0.00001
NM_000245.4(MET):c.306C>G (p.Ser102Arg) rs749383450 0.00001
NM_000245.4(MET):c.308G>A (p.Ser103Asn) rs768675699 0.00001
NM_000245.4(MET):c.3091A>G (p.Met1031Val) rs45564937 0.00001
NM_000245.4(MET):c.3095C>T (p.Ser1032Phe) rs1201989602 0.00001
NM_000245.4(MET):c.3107C>T (p.Thr1036Ile) rs758440368 0.00001
NM_000245.4(MET):c.3133C>A (p.Pro1045Thr) rs1794949971 0.00001
NM_000245.4(MET):c.3134C>G (p.Pro1045Arg) rs1554398862 0.00001
NM_000245.4(MET):c.3149C>G (p.Thr1050Ser) rs1179812872 0.00001
NM_000245.4(MET):c.3152T>C (p.Val1051Ala) rs1319458719 0.00001
NM_000245.4(MET):c.3155A>G (p.His1052Arg) rs763398740 0.00001
NM_000245.4(MET):c.3157A>T (p.Ile1053Phe) rs1278254320 0.00001
NM_000245.4(MET):c.315C>T (p.Ala105=) rs1428685262 0.00001
NM_000245.4(MET):c.3192G>C (p.Gln1064His) rs974352099 0.00001
NM_000245.4(MET):c.3195A>G (p.Ala1065=) rs1794952295 0.00001
NM_000245.4(MET):c.319T>G (p.Leu107Val) rs1791474714 0.00001
NM_000245.4(MET):c.3200A>G (p.Gln1067Arg) rs1554398900 0.00001
NM_000245.4(MET):c.3208G>A (p.Val1070Met) rs760285693 0.00001
NM_000245.4(MET):c.3217C>T (p.Pro1073Ser) rs398123569 0.00001
NM_000245.4(MET):c.3220A>G (p.Ser1074Gly) rs764947837 0.00001
NM_000245.4(MET):c.3231T>A (p.Ile1077=) rs1251215478 0.00001
NM_000245.4(MET):c.3239T>C (p.Phe1080Ser) rs1794954978 0.00001
NM_000245.4(MET):c.3242A>G (p.Asn1081Ser) rs764213589 0.00001
NM_000245.4(MET):c.3250A>G (p.Ile1084Val) rs757539632 0.00001
NM_000245.4(MET):c.3260-4A>G rs864622521 0.00001
NM_000245.4(MET):c.3261G>A (p.Gly1087=) rs1422966258 0.00001
NM_000245.4(MET):c.3274G>A (p.Val1092Ile) rs786202724 0.00001
NM_000245.4(MET):c.3276A>T (p.Val1092=) rs757338659 0.00001
NM_000245.4(MET):c.3281A>G (p.His1094Arg) rs121913243 0.00001
NM_000245.4(MET):c.3289T>C (p.Leu1097=) rs45583838 0.00001
NM_000245.4(MET):c.3292T>C (p.Leu1098=) rs978734201 0.00001
NM_000245.4(MET):c.3318C>T (p.His1106=) rs755500683 0.00001
NM_000245.4(MET):c.331G>A (p.Val111Ile) rs368750834 0.00001
NM_000245.4(MET):c.3341-12T>C rs1235902821 0.00001
NM_000245.4(MET):c.3377C>A (p.Thr1126Asn) rs367634278 0.00001
NM_000245.4(MET):c.3397G>C (p.Asp1133His) rs745437003 0.00001
NM_000245.4(MET):c.3403A>T (p.Ser1135Cys) rs1394199299 0.00001
NM_000245.4(MET):c.3422C>T (p.Ser1141Leu) rs375395179 0.00001
NM_000245.4(MET):c.3423G>A (p.Ser1141=) rs567551556 0.00001
NM_000245.4(MET):c.3427C>T (p.Leu1143=) rs774334135 0.00001
NM_000245.4(MET):c.3430G>A (p.Gly1144Arg) rs1795070539 0.00001
NM_000245.4(MET):c.3442C>A (p.Arg1148=) rs879254336 0.00001
NM_000245.4(MET):c.3443G>A (p.Arg1148Gln) rs761808213 0.00001
NM_000245.4(MET):c.3495T>C (p.Leu1165=) rs758902071 0.00001
NM_000245.4(MET):c.3508C>T (p.Arg1170Ter) rs200754673 0.00001
NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) rs369838973 0.00001
NM_000245.4(MET):c.3517A>G (p.Thr1173Ala) rs779636840 0.00001
NM_000245.4(MET):c.3539A>T (p.Asp1180Val) rs751961995 0.00001
NM_000245.4(MET):c.356C>T (p.Ala119Val) rs904162290 0.00001
NM_000245.4(MET):c.3586G>A (p.Ala1196Thr) rs970206545 0.00001
NM_000245.4(MET):c.3594A>G (p.Lys1198=) rs199883640 0.00001
NM_000245.4(MET):c.3597G>A (p.Lys1199=) rs1795174174 0.00001
NM_000245.4(MET):c.362T>C (p.Val121Ala) rs879254339 0.00001
NM_000245.4(MET):c.3633-11C>T rs1424157003 0.00001
NM_000245.4(MET):c.3633-7T>C rs863224379 0.00001
NM_000245.4(MET):c.3633-8T>C rs1405684941 0.00001
NM_000245.4(MET):c.3633-9_3633-8insC rs1562935745 0.00001
NM_000245.4(MET):c.366C>T (p.Val122=) rs202026780 0.00001
NM_000245.4(MET):c.3672T>C (p.Gly1224=) rs762218595 0.00001
NM_000245.4(MET):c.3684C>T (p.Asp1228=) rs786201612 0.00001
NM_000245.4(MET):c.3685A>G (p.Met1229Val) rs768125521 0.00001
NM_000245.4(MET):c.3686T>C (p.Met1229Thr) rs1193542215 0.00001
NM_000245.4(MET):c.3727G>A (p.Ala1243Thr) rs752351789 0.00001
NM_000245.4(MET):c.3735G>A (p.Leu1245=) rs1323787899 0.00001
NM_000245.4(MET):c.377A>G (p.Tyr126Cys) rs542267057 0.00001
NM_000245.4(MET):c.3798+16T>A rs780154942 0.00001
NM_000245.4(MET):c.3799-10G>A rs1270863054 0.00001
NM_000245.4(MET):c.3799-5A>G rs1340355638 0.00001
NM_000245.4(MET):c.3804C>G (p.Ser1268=) rs764822445 0.00001
NM_000245.4(MET):c.3859G>A (p.Val1287Ile) rs780102059 0.00001
NM_000245.4(MET):c.3864C>T (p.Asn1288=) rs768627036 0.00001
NM_000245.4(MET):c.3878C>G (p.Thr1293Ser) rs779121848 0.00001
NM_000245.4(MET):c.3916G>A (p.Glu1306Lys) rs1436537175 0.00001
NM_000245.4(MET):c.391A>G (p.Ile131Val) rs1309236031 0.00001
NM_000245.4(MET):c.3935+15T>C rs375531399 0.00001
NM_000245.4(MET):c.3935+6T>C rs1301383613 0.00001
NM_000245.4(MET):c.3937T>C (p.Tyr1313His) rs1290917552 0.00001
NM_000245.4(MET):c.3949C>T (p.Leu1317=) rs1219703716 0.00001
NM_000245.4(MET):c.3950T>A (p.Leu1317Gln) rs1159812687 0.00001
NM_000245.4(MET):c.3960G>A (p.Trp1320Ter) rs1174194833 0.00001
NM_000245.4(MET):c.3966T>A (p.Pro1322=) rs372608840 0.00001
NM_000245.4(MET):c.3972C>T (p.Ala1324=) rs201519623 0.00001
NM_000245.4(MET):c.3973G>A (p.Glu1325Lys) rs587778444 0.00001
NM_000245.4(MET):c.3980G>A (p.Arg1327His) rs1443741792 0.00001
NM_000245.4(MET):c.3997C>G (p.Leu1333Val) rs758738756 0.00001
NM_000245.4(MET):c.4008G>A (p.Arg1336=) rs373857586 0.00001
NM_000245.4(MET):c.400G>A (p.Gly134Ser) rs1584876675 0.00001
NM_000245.4(MET):c.4018A>G (p.Ile1340Val) rs1060503543 0.00001
NM_000245.4(MET):c.4042C>A (p.His1348Asn) rs773772398 0.00001
NM_000245.4(MET):c.405C>T (p.Ser135=) rs200494620 0.00001
NM_000245.4(MET):c.4068T>C (p.Tyr1356=) rs767214353 0.00001
NM_000245.4(MET):c.4082G>A (p.Cys1361Tyr) rs766190061 0.00001
NM_000245.4(MET):c.4097C>A (p.Pro1366His) rs778084120 0.00001
NM_000245.4(MET):c.4119T>C (p.Asp1373=) rs771571698 0.00001
NM_000245.4(MET):c.4122C>T (p.Asn1374=) rs370767911 0.00001
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr) rs758486336 0.00001
NM_000245.4(MET):c.4151C>G (p.Ala1384Gly) rs202166889 0.00001
NM_000245.4(MET):c.4154C>A (p.Ser1385Tyr) rs764303128 0.00001
NM_000245.4(MET):c.427C>T (p.Arg143Ter) rs779093896 0.00001
NM_000245.4(MET):c.433G>A (p.Val145Ile) rs1410705895 0.00001
NM_000245.4(MET):c.446A>G (p.Asn149Ser) rs772398152 0.00001
NM_000245.4(MET):c.447T>G (p.Asn149Lys) rs974448652 0.00001
NM_000245.4(MET):c.448C>T (p.His150Tyr) rs1436957498 0.00001
NM_000245.4(MET):c.462A>G (p.Ile154Met) rs771146873 0.00001
NM_000245.4(MET):c.481A>G (p.Ile161Val) rs1584876914 0.00001
NM_000245.4(MET):c.490C>G (p.Pro164Ala) rs765759353 0.00001
NM_000245.4(MET):c.508A>C (p.Ser170Arg) rs750102016 0.00001
NM_000245.4(MET):c.50C>T (p.Thr17Ile) rs747777018 0.00001
NM_000245.4(MET):c.527T>C (p.Val176Ala) rs1343674412 0.00001
NM_000245.4(MET):c.531G>A (p.Val177=) rs755804127 0.00001
NM_000245.4(MET):c.541G>A (p.Gly181Arg) rs779040487 0.00001
NM_000245.4(MET):c.543A>C (p.Gly181=) rs1316581869 0.00001
NM_000245.4(MET):c.546C>A (p.Ala182=) rs570036369 0.00001
NM_000245.4(MET):c.553C>A (p.Leu185Ile) rs376097698 0.00001
NM_000245.4(MET):c.572G>A (p.Arg191Gln) rs879254342 0.00001
NM_000245.4(MET):c.573G>T (p.Arg191=) rs1433702089 0.00001
NM_000245.4(MET):c.585C>T (p.Phe195=) rs587780737 0.00001
NM_000245.4(MET):c.599C>A (p.Thr200Asn) rs786202727 0.00001
NM_000245.4(MET):c.600C>G (p.Thr200=) rs1225303075 0.00001
NM_000245.4(MET):c.620C>G (p.Pro207Arg) rs1246281148 0.00001
NM_000245.4(MET):c.624T>C (p.Asp208=) rs1285814811 0.00001
NM_000245.4(MET):c.625C>T (p.His209Tyr) rs866183824 0.00001
NM_000245.4(MET):c.62G>A (p.Arg21Lys) rs964356368 0.00001
NM_000245.4(MET):c.630A>G (p.Pro210=) rs770257335 0.00001
NM_000245.4(MET):c.631T>C (p.Leu211=) rs1584877307 0.00001
NM_000245.4(MET):c.65G>T (p.Ser22Ile) rs587780739 0.00001
NM_000245.4(MET):c.669A>G (p.Lys223=) rs863224380 0.00001
NM_000245.4(MET):c.670G>T (p.Asp224Tyr) rs765257726 0.00001
NM_000245.4(MET):c.675T>C (p.Gly225=) rs368249740 0.00001
NM_000245.4(MET):c.689C>T (p.Thr230Met) rs587780740 0.00001
NM_000245.4(MET):c.704T>C (p.Ile235Thr) rs1060503530 0.00001
NM_000245.4(MET):c.716C>T (p.Pro239Leu) rs45551737 0.00001
NM_000245.4(MET):c.738C>T (p.Pro246=) rs1461455526 0.00001
NM_000245.4(MET):c.753T>C (p.His251=) rs1392829448 0.00001
NM_000245.4(MET):c.768C>T (p.Asn256=) rs1221580502 0.00001
NM_000245.4(MET):c.769A>G (p.Asn257Asp) rs776407390 0.00001
NM_000245.4(MET):c.776T>C (p.Ile259Thr) rs587780548 0.00001
NM_000245.4(MET):c.800A>G (p.Glu267Gly) rs751564290 0.00001
NM_000245.4(MET):c.805C>T (p.Leu269=) rs781257386 0.00001
NM_000245.4(MET):c.808G>C (p.Asp270His) rs1060503542 0.00001
NM_000245.4(MET):c.821T>C (p.Phe274Ser) rs758569834 0.00001
NM_000245.4(MET):c.828A>G (p.Thr276=) rs779512046 0.00001
NM_000245.4(MET):c.840G>T (p.Arg280Ser) rs1207381066 0.00001
NM_000245.4(MET):c.866A>G (p.His289Arg) rs1584877845 0.00001
NM_000245.4(MET):c.874A>C (p.Met292Leu) rs1395827839 0.00001
NM_000245.4(MET):c.88C>T (p.Leu30=) rs1060504939 0.00001
NM_000245.4(MET):c.912A>G (p.Arg304=) rs762885066 0.00001
NM_000245.4(MET):c.965T>C (p.Val322Ala) rs1306040798 0.00001
NM_000245.4(MET):c.974C>T (p.Pro325Leu) rs780802614 0.00001
NM_000245.4(MET):c.983A>G (p.Gln328Arg) rs1165913241 0.00001
NM_000245.4(MET):c.99C>T (p.Ser33=) rs1363905218 0.00001
NC_000007.13:g.(?_116339129)_(116340348_?)dup
NC_000007.13:g.(?_116339133)_(116399550_?)dup
NC_000007.13:g.(?_116339139)_(116411718_?)dup
NC_000007.13:g.(?_116339139)_(116436178_?)del
NC_000007.13:g.(?_116339139)_(116436178_?)dup
NC_000007.13:g.(?_116371712)_(116436178_?)dup
NC_000007.13:g.(?_116380902)_(116403184_?)del
NC_000007.13:g.(?_116395399)_(116395579_?)dup
NC_000007.13:g.(?_116417433)_(116436178_?)dup
NC_000007.13:g.(?_116435699)_(116436178_?)dup
NC_000007.14:g.(?_116699075)_(116796134_?)dup
NC_000007.14:g.(?_116699085)_(116700294_?)dup
NC_000007.14:g.(?_116740842)_(116796134_?)dup
NC_000007.14:g.(?_116740846)_(116741031_?)del
NM_000245.4(MET):c.*105C>A rs886061945
NM_000245.4(MET):c.*1233G>A rs560568639
NM_000245.4(MET):c.*1244G>A rs144559852
NM_000245.4(MET):c.*1244G>T rs144559852
NM_000245.4(MET):c.*1359T>C rs1795712500
NM_000245.4(MET):c.*1460C>G rs886061949
NM_000245.4(MET):c.*1809C>T rs868554436
NM_000245.4(MET):c.*1882G>T rs886061950
NM_000245.4(MET):c.*1909A>G rs1795730503
NM_000245.4(MET):c.*1929A>G rs1321841621
NM_000245.4(MET):c.*2134T>A rs144156652
NM_000245.4(MET):c.*2147T>C rs1795737615
NM_000245.4(MET):c.*2202G>T rs14456
NM_000245.4(MET):c.*2245G>T rs1447240969
NM_000245.4(MET):c.*27C>A rs1795669540
NM_000245.4(MET):c.*2G>T rs1795668471
NM_000245.4(MET):c.*359G>A rs1795682838
NM_000245.4(MET):c.*376G>T rs553602374
NM_000245.4(MET):c.*422T>A rs886061947
NM_000245.4(MET):c.*438T>A rs955990225
NM_000245.4(MET):c.*480T>C rs1207133647
NM_000245.4(MET):c.*493A>C rs1795687373
NM_000245.4(MET):c.*786C>T rs935854365
NM_000245.4(MET):c.*984C>T rs573510587
NM_000245.4(MET):c.*995G>T rs886061948
NM_000245.4(MET):c.-12_17del (p.Met1fs) rs1562882716
NM_000245.4(MET):c.1001G>A (p.Gly334Glu) rs2116603002
NM_000245.4(MET):c.1005C>T (p.Ala335=)
NM_000245.4(MET):c.1008C>G (p.Ser336Arg) rs1584878137
NM_000245.4(MET):c.1009C>A (p.Leu337Met) rs1246936382
NM_000245.4(MET):c.100G>C (p.Glu34Gln) rs764246939
NM_000245.4(MET):c.1010T>A (p.Leu337Gln) rs2116603244
NM_000245.4(MET):c.1011G>A (p.Leu337=) rs886061942
NM_000245.4(MET):c.1014T>C (p.Asn338=) rs2116603344
NM_000245.4(MET):c.1015G>A (p.Asp339Asn) rs1463245808
NM_000245.4(MET):c.1017T>C (p.Asp339=) rs2116603439
NM_000245.4(MET):c.1018G>A (p.Asp340Asn) rs769544894
NM_000245.4(MET):c.1018G>C (p.Asp340His) rs769544894
NM_000245.4(MET):c.1021A>G (p.Ile341Val) rs1791513686
NM_000245.4(MET):c.1021A>T (p.Ile341Phe)
NM_000245.4(MET):c.1024C>A (p.Leu342Ile)
NM_000245.4(MET):c.1024C>G (p.Leu342Val) rs749082043
NM_000245.4(MET):c.1029C>A (p.Phe343Leu)
NM_000245.4(MET):c.1029C>T (p.Phe343=) rs56340719
NM_000245.4(MET):c.1032G>T (p.Gly344=) rs1457756402
NM_000245.4(MET):c.1033G>A (p.Val345Met) rs1232896056
NM_000245.4(MET):c.1033del (p.Val345fs) rs1791514332
NM_000245.4(MET):c.1035G>T (p.Val345=)
NM_000245.4(MET):c.1036T>C (p.Phe346Leu) rs1791514789
NM_000245.4(MET):c.1039G>T (p.Ala347Ser)
NM_000245.4(MET):c.1041A>C (p.Ala347=) rs1791515202
NM_000245.4(MET):c.1043A>T (p.Gln348Leu)
NM_000245.4(MET):c.1046G>A (p.Ser349Asn) rs1584878246
NM_000245.4(MET):c.1048A>C (p.Lys350Gln) rs201191014
NM_000245.4(MET):c.1048A>G (p.Lys350Glu)
NM_000245.4(MET):c.104T>C (p.Met35Thr)
NM_000245.4(MET):c.1050G>A (p.Lys350=) rs1060504940
NM_000245.4(MET):c.1051C>G (p.Pro351Ala) rs587782807
NM_000245.4(MET):c.1051C>T (p.Pro351Ser) rs587782807
NM_000245.4(MET):c.1052C>T (p.Pro351Leu)
NM_000245.4(MET):c.1054G>A (p.Asp352Asn)
NM_000245.4(MET):c.1055A>T (p.Asp352Val)
NM_000245.4(MET):c.1056T>G (p.Asp352Glu) rs2116604421
NM_000245.4(MET):c.1058C>T (p.Ser353Phe) rs1791516755
NM_000245.4(MET):c.105G>A (p.Met35Ile) rs376244358
NM_000245.4(MET):c.1062C>A (p.Ala354=)
NM_000245.4(MET):c.1063G>T (p.Glu355Ter) rs561295443
NM_000245.4(MET):c.1065A>G (p.Glu355=) rs1584878304
NM_000245.4(MET):c.1066C>A (p.Pro356Thr)
NM_000245.4(MET):c.1066C>T (p.Pro356Ser)
NM_000245.4(MET):c.1067C>T (p.Pro356Leu)
NM_000245.4(MET):c.1069A>G (p.Met357Val) rs1554379058
NM_000245.4(MET):c.1071G>A (p.Met357Ile) rs1246645896
NM_000245.4(MET):c.1072G>C (p.Asp358His) rs758919662
NM_000245.4(MET):c.1073A>C (p.Asp358Ala) rs1326405747
NM_000245.4(MET):c.1074T>C (p.Asp358=) rs1584878345
NM_000245.4(MET):c.1075C>T (p.Arg359Ter)
NM_000245.4(MET):c.1076G>T (p.Arg359Leu) rs201274041
NM_000245.4(MET):c.1077A>G (p.Arg359=)
NM_000245.4(MET):c.1079C>T (p.Ser360Phe) rs2116604992
NM_000245.4(MET):c.1081G>A (p.Ala361Thr)
NM_000245.4(MET):c.1081G>C (p.Ala361Pro) rs786202310
NM_000245.4(MET):c.1082C>T (p.Ala361Val) rs949765512
NM_000245.4(MET):c.1083C>G (p.Ala361=)
NM_000245.4(MET):c.1083C>T (p.Ala361=) rs1044616410
NM_000245.4(MET):c.1084A>C (p.Met362Leu) rs1791519202
NM_000245.4(MET):c.1084A>G (p.Met362Val)
NM_000245.4(MET):c.1086G>A (p.Met362Ile) rs779724665
NM_000245.4(MET):c.1086G>C (p.Met362Ile) rs779724665
NM_000245.4(MET):c.1086G>T (p.Met362Ile)
NM_000245.4(MET):c.1087T>C (p.Cys363Arg)
NM_000245.4(MET):c.1088G>A (p.Cys363Tyr) rs1472858680
NM_000245.4(MET):c.108T>C (p.Asn36=) rs2116580390
NM_000245.4(MET):c.1090G>A (p.Ala364Thr) rs200016433
NM_000245.4(MET):c.1091C>T (p.Ala364Val)
NM_000245.4(MET):c.1092A>G (p.Ala364=)
NM_000245.4(MET):c.1096C>G (p.Pro366Ala)
NM_000245.4(MET):c.1100T>A (p.Ile367Asn)
NM_000245.4(MET):c.1104A>G (p.Lys368=)
NM_000245.4(MET):c.1106A>G (p.Tyr369Cys) rs370314484
NM_000245.4(MET):c.1107T>C (p.Tyr369=) rs1554379127
NM_000245.4(MET):c.1108G>A (p.Val370Ile)
NM_000245.4(MET):c.1108G>T (p.Val370Phe)
NM_000245.4(MET):c.1113C>A (p.Asn371Lys) rs772014416
NM_000245.4(MET):c.1113C>G (p.Asn371Lys) rs772014416
NM_000245.4(MET):c.1114G>A (p.Asp372Asn) rs773200558
NM_000245.4(MET):c.1123A>G (p.Asn375Asp) rs1375932394
NM_000245.4(MET):c.1125C>A (p.Asn375Lys) rs776693512
NM_000245.4(MET):c.1125C>G (p.Asn375Lys) rs776693512
NM_000245.4(MET):c.1125C>T (p.Asn375=) rs776693512
NM_000245.4(MET):c.1127A>G (p.Lys376Arg)
NM_000245.4(MET):c.1129A>G (p.Ile377Val) rs1554379158
NM_000245.4(MET):c.1130T>G (p.Ile377Ser) rs1791521654
NM_000245.4(MET):c.1131C>A (p.Ile377=) rs28444388
NM_000245.4(MET):c.1131C>G (p.Ile377Met) rs28444388
NM_000245.4(MET):c.1133T>G (p.Val378Gly) rs2116606225
NM_000245.4(MET):c.1134C>G (p.Val378=) rs1290039988
NM_000245.4(MET):c.1136A>G (p.Asn379Ser) rs1320718414
NM_000245.4(MET):c.1142A>G (p.Asn381Ser)
NM_000245.4(MET):c.1143C>T (p.Asn381=) rs764685570
NM_000245.4(MET):c.1144A>T (p.Asn382Tyr) rs1791522873
NM_000245.4(MET):c.1145A>T (p.Asn382Ile) rs2116606480
NM_000245.4(MET):c.1146T>C (p.Asn382=)
NM_000245.4(MET):c.1149G>A (p.Val383=) rs1033586067
NM_000245.4(MET):c.114T>A (p.Asn38Lys) rs863224693
NM_000245.4(MET):c.1152A>G (p.Arg384=) rs2116606658
NM_000245.4(MET):c.1153T>A (p.Cys385Ser) rs1562884601
NM_000245.4(MET):c.1155T>C (p.Cys385=)
NM_000245.4(MET):c.1157T>A (p.Leu386His) rs1554379180
NM_000245.4(MET):c.1157T>G (p.Leu386Arg) rs1554379180
NM_000245.4(MET):c.1158C>A (p.Leu386=)
NM_000245.4(MET):c.1158C>G (p.Leu386=)
NM_000245.4(MET):c.1158C>T (p.Leu386=) rs1554379184
NM_000245.4(MET):c.1160A>G (p.Gln387Arg) rs1791523699
NM_000245.4(MET):c.1164T>A (p.His388Gln) rs1791523904
NM_000245.4(MET):c.116T>A (p.Met39Lys) rs879254330
NM_000245.4(MET):c.116T>C (p.Met39Thr) rs879254330
NM_000245.4(MET):c.1170C>T (p.Tyr390=) rs45552236
NM_000245.4(MET):c.1172G>T (p.Gly391Val) rs1584878602
NM_000245.4(MET):c.1174C>A (p.Pro392Thr) rs886061943
NM_000245.4(MET):c.1175C>A (p.Pro392His)
NM_000245.4(MET):c.1179T>A (p.Asn393Lys)
NM_000245.4(MET):c.1179T>C (p.Asn393=)
NM_000245.4(MET):c.117G>A (p.Met39Ile)
NM_000245.4(MET):c.1180C>A (p.His394Asn) rs201628326
NM_000245.4(MET):c.1185_1186delinsAT (p.His396Tyr) rs1584878668
NM_000245.4(MET):c.1187A>C (p.His396Pro) rs2116607543
NM_000245.4(MET):c.1188C>T (p.His396=)
NM_000245.4(MET):c.1190G>A (p.Cys397Tyr)
NM_000245.4(MET):c.1192T>C (p.Phe398Leu)
NM_000245.4(MET):c.1197T>C (p.Asn399=) rs1791526414
NM_000245.4(MET):c.1199G>A (p.Arg400Lys) rs2116607774
NM_000245.4(MET):c.119A>T (p.Lys40Met) rs1210616219
NM_000245.4(MET):c.1200+10A>G rs746880479
NM_000245.4(MET):c.1200+10A>T rs746880479
NM_000245.4(MET):c.1200+12C>T
NM_000245.4(MET):c.1200+14G>A rs1791529199
NM_000245.4(MET):c.1200+20C>T
NM_000245.4(MET):c.1200+2T>C
NM_000245.4(MET):c.1200+3A>G
NM_000245.4(MET):c.1200+6T>A
NM_000245.4(MET):c.1200+9C>T
NM_000245.4(MET):c.1201-12A>C rs2116778819
NM_000245.4(MET):c.1201-18G>A
NM_000245.4(MET):c.1201-20A>C
NM_000245.4(MET):c.1201-20A>G
NM_000245.4(MET):c.1201-7A>T
NM_000245.4(MET):c.1201-8T>C
NM_000245.4(MET):c.1201-8T>G rs2116778881
NM_000245.4(MET):c.1201-9T>G rs768133322
NM_000245.4(MET):c.1204C>A (p.Leu402Ile) rs45441497
NM_000245.4(MET):c.1207C>A (p.Leu403Met) rs202236031
NM_000245.4(MET):c.1208T>C (p.Leu403Pro) rs761254993
NM_000245.4(MET):c.1215T>C (p.Asn405=) rs2116779466
NM_000245.4(MET):c.1217C>T (p.Ser406Leu)
NM_000245.4(MET):c.1218A>C (p.Ser406=) rs1358705636
NM_000245.4(MET):c.1220C>T (p.Ser407Leu) rs764580322
NM_000245.4(MET):c.1222G>T (p.Gly408Cys)
NM_000245.4(MET):c.1226G>A (p.Cys409Tyr)
NM_000245.4(MET):c.1228G>A (p.Glu410Lys) rs1793009396
NM_000245.4(MET):c.122A>G (p.Tyr41Cys) rs780358093
NM_000245.4(MET):c.1231G>A (p.Ala411Thr) rs752281264
NM_000245.4(MET):c.1238G>C (p.Arg413Pro) rs375391602
NM_000245.4(MET):c.1238G>T (p.Arg413Leu) rs375391602
NM_000245.4(MET):c.1245A>G (p.Glu415=) rs2116780402
NM_000245.4(MET):c.1248T>C (p.Tyr416=) rs745726656
NM_000245.4(MET):c.1249C>A (p.Arg417=)
NM_000245.4(MET):c.1249C>T (p.Arg417Ter)
NM_000245.4(MET):c.1250G>A (p.Arg417Gln) rs2116780504
NM_000245.4(MET):c.1250G>C (p.Arg417Pro) rs2116780504
NM_000245.4(MET):c.1253C>T (p.Thr418Ile) rs2116780591
NM_000245.4(MET):c.1254A>G (p.Thr418=)
NM_000245.4(MET):c.1263C>A (p.Thr421=) rs45499391
NM_000245.4(MET):c.1265C>T (p.Thr422Ile) rs1793012257
NM_000245.4(MET):c.1267G>A (p.Ala423Thr) rs922296506
NM_000245.4(MET):c.1268C>A (p.Ala423Asp)
NM_000245.4(MET):c.1272G>A (p.Leu424=) rs1342295714
NM_000245.4(MET):c.1274A>G (p.Gln425Arg) rs1793013042
NM_000245.4(MET):c.1276C>T (p.Arg426Cys) rs774779741
NM_000245.4(MET):c.1280T>C (p.Val427Ala) rs773626056
NM_000245.4(MET):c.1281T>A (p.Val427=)
NM_000245.4(MET):c.1283A>G (p.Asp428Gly)
NM_000245.4(MET):c.1285T>A (p.Leu429Ile) rs911380470
NM_000245.4(MET):c.1286T>C (p.Leu429Ser)
NM_000245.4(MET):c.1287A>C (p.Leu429Phe) rs1793014361
NM_000245.4(MET):c.1288T>C (p.Phe430Leu) rs2116781526
NM_000245.4(MET):c.128T>C (p.Leu43Pro) rs1487106127
NM_000245.4(MET):c.1290C>G (p.Phe430Leu) rs1194542748
NM_000245.4(MET):c.1295G>A (p.Gly432Asp) rs2116781776
NM_000245.4(MET):c.1296T>C (p.Gly432=) rs200255054
NM_000245.4(MET):c.1296T>G (p.Gly432=) rs200255054
NM_000245.4(MET):c.1297C>G (p.Gln433Glu) rs1584914144
NM_000245.4(MET):c.1298A>G (p.Gln433Arg) rs774952152
NM_000245.4(MET):c.1299A>G (p.Gln433=) rs201326561
NM_000245.4(MET):c.129T>C (p.Leu43=)
NM_000245.4(MET):c.12C>G (p.Pro4=) rs772251895
NM_000245.4(MET):c.1302C>T (p.Phe434=) rs2116782064
NM_000245.4(MET):c.1303A>T (p.Ser435Cys) rs1186230260
NM_000245.4(MET):c.1304G>A (p.Ser435Asn) rs199761604
NM_000245.4(MET):c.1306G>C (p.Glu436Gln) rs200740468
NM_000245.4(MET):c.1309G>A (p.Val437Ile) rs1584914185
NM_000245.4(MET):c.130C>T (p.Pro44Ser) rs1474436542
NM_000245.4(MET):c.1310T>C (p.Val437Ala)
NM_000245.4(MET):c.1311C>G (p.Val437=)
NM_000245.4(MET):c.1312C>G (p.Leu438Val) rs587780733
NM_000245.4(MET):c.1314C>T (p.Leu438=) rs2116782411
NM_000245.4(MET):c.1317A>G (p.Leu439=) rs2116782479
NM_000245.4(MET):c.1318A>C (p.Thr440Pro) rs1793016615
NM_000245.4(MET):c.131C>A (p.Pro44His) rs1554378225
NM_000245.4(MET):c.1322C>G (p.Ser441Cys) rs751158986
NM_000245.4(MET):c.1330A>G (p.Thr444Ala) rs2116782829
NM_000245.4(MET):c.1331C>T (p.Thr444Ile) rs1793017472
NM_000245.4(MET):c.1333T>C (p.Phe445Leu)
NM_000245.4(MET):c.1333T>G (p.Phe445Val) rs1793017605
NM_000245.4(MET):c.1336A>C (p.Ile446Leu)
NM_000245.4(MET):c.1336A>T (p.Ile446Phe)
NM_000245.4(MET):c.133A>G (p.Asn45Asp)
NM_000245.4(MET):c.1340A>G (p.Lys447Arg) rs1584914259
NM_000245.4(MET):c.1344A>T (p.Gly448=)
NM_000245.4(MET):c.1347C>A (p.Asp449Glu) rs2116783251
NM_000245.4(MET):c.1348C>G (p.Leu450Val)
NM_000245.4(MET):c.1348C>T (p.Leu450Phe) rs1793018571
NM_000245.4(MET):c.134A>G (p.Asn45Ser) rs77651398
NM_000245.4(MET):c.1350C>T (p.Leu450=) rs2116783338
NM_000245.4(MET):c.1354A>G (p.Ile452Val) rs1793018926
NM_000245.4(MET):c.1357G>A (p.Ala453Thr) rs1793019219
NM_000245.4(MET):c.135C>G (p.Asn45Lys) rs1562883006
NM_000245.4(MET):c.135C>T (p.Asn45=)
NM_000245.4(MET):c.1360A>C (p.Asn454His) rs1793019649
NM_000245.4(MET):c.1361A>G (p.Asn454Ser)
NM_000245.4(MET):c.1361A>T (p.Asn454Ile) rs587780734
NM_000245.4(MET):c.1362T>C (p.Asn454=)
NM_000245.4(MET):c.1363C>A (p.Leu455Ile) rs780077898
NM_000245.4(MET):c.1363C>T (p.Leu455Phe) rs780077898
NM_000245.4(MET):c.1364T>C (p.Leu455Pro)
NM_000245.4(MET):c.1366G>A (p.Gly456Arg) rs1793020405
NM_000245.4(MET):c.1367_1370del (p.Gly456fs) rs1793020534
NM_000245.4(MET):c.1370C>T (p.Thr457Ile)
NM_000245.4(MET):c.1377G>A (p.Glu459=)
NM_000245.4(MET):c.1378G>A (p.Gly460Ser)
NM_000245.4(MET):c.1381C>A (p.Arg461Ser)
NM_000245.4(MET):c.1381C>G (p.Arg461Gly)
NM_000245.4(MET):c.1381C>T (p.Arg461Cys) rs1584914359
NM_000245.4(MET):c.1388T>C (p.Met463Thr)
NM_000245.4(MET):c.1388T>G (p.Met463Arg) rs1584914382
NM_000245.4(MET):c.1392+10T>G rs2116784727
NM_000245.4(MET):c.1392+13T>G
NM_000245.4(MET):c.1392+17A>T rs747447086
NM_000245.4(MET):c.1392+18G>C rs2116784901
NM_000245.4(MET):c.1392+19T>C rs2116784923
NM_000245.4(MET):c.1392+1G>T rs1584914409
NM_000245.4(MET):c.1392+3A>C
NM_000245.4(MET):c.1392+3A>G
NM_000245.4(MET):c.1392+5G>A rs386833405
NM_000245.4(MET):c.1392+6T>C
NM_000245.4(MET):c.1392+6T>G rs1793022563
NM_000245.4(MET):c.1392+7G>A
NM_000245.4(MET):c.1392+9T>C rs2116784701
NM_000245.4(MET):c.1393-10T>C rs2116825333
NM_000245.4(MET):c.1393-12T>C
NM_000245.4(MET):c.1393-18A>G
NM_000245.4(MET):c.1393-19T>C rs995271235
NM_000245.4(MET):c.1393-1G>T rs1584921909
NM_000245.4(MET):c.1393-2A>T rs1584921898
NM_000245.4(MET):c.1393-6G>C rs202194405
NM_000245.4(MET):c.1393-8C>G rs2116825376
NM_000245.4(MET):c.1393G>A (p.Val465Ile) rs754969545
NM_000245.4(MET):c.1397T>C (p.Val466Ala)
NM_000245.4(MET):c.1399G>A (p.Val467Ile) rs1004264326
NM_000245.4(MET):c.1399G>T (p.Val467Phe) rs1004264326
NM_000245.4(MET):c.139A>T (p.Thr47Ser)
NM_000245.4(MET):c.1401T>G (p.Val467=) rs2116825709
NM_000245.4(MET):c.1403C>G (p.Ser468Cys) rs1793378040
NM_000245.4(MET):c.1403C>T (p.Ser468Phe) rs1793378040
NM_000245.4(MET):c.1405C>T (p.Arg469Ter) rs2116825789
NM_000245.4(MET):c.1406G>C (p.Arg469Pro) rs752842662
NM_000245.4(MET):c.1408T>C (p.Ser470Pro)
NM_000245.4(MET):c.140C>A (p.Thr47Asn) rs2116581323
NM_000245.4(MET):c.140C>T (p.Thr47Ile)
NM_000245.4(MET):c.1411G>A (p.Gly471Arg) rs1207715563
NM_000245.4(MET):c.1412G>C (p.Gly471Ala)
NM_000245.4(MET):c.1415C>T (p.Pro472Leu) rs1793379533
NM_000245.4(MET):c.1416A>G (p.Pro472=)
NM_000245.4(MET):c.1417T>C (p.Ser473Pro) rs2116826038
NM_000245.4(MET):c.141C>A (p.Thr47=) rs864622222
NM_000245.4(MET):c.141C>G (p.Thr47=) rs864622222
NM_000245.4(MET):c.1420A>G (p.Thr474Ala) rs1793379665
NM_000245.4(MET):c.1421C>A (p.Thr474Asn) rs1554390902
NM_000245.4(MET):c.1421C>T (p.Thr474Ile) rs1554390902
NM_000245.4(MET):c.1422C>T (p.Thr474=)
NM_000245.4(MET):c.1424C>T (p.Pro475Leu) rs1793380035
NM_000245.4(MET):c.1427A>G (p.His476Arg)
NM_000245.4(MET):c.1428T>A (p.His476Gln) rs1432416607
NM_000245.4(MET):c.1428T>C (p.His476=) rs1432416607
NM_000245.4(MET):c.1430T>A (p.Val477Glu) rs1197127761
NM_000245.4(MET):c.1430T>G (p.Val477Gly)
NM_000245.4(MET):c.1431G>A (p.Val477=)
NM_000245.4(MET):c.1436T>C (p.Phe479Ser) rs1793380587
NM_000245.4(MET):c.1439T>C (p.Leu480Pro)
NM_000245.4(MET):c.143C>T (p.Ala48Val) rs80256822
NM_000245.4(MET):c.1441C>A (p.Leu481Met) rs1012909374
NM_000245.4(MET):c.1444G>T (p.Asp482Tyr)
NM_000245.4(MET):c.1445A>G (p.Asp482Gly)
NM_000245.4(MET):c.1447T>C (p.Ser483Pro) rs1584922011
NM_000245.4(MET):c.1449C>T (p.Ser483=) rs1458827441
NM_000245.4(MET):c.1453C>T (p.Pro485Ser) rs1451954069
NM_000245.4(MET):c.1455A>G (p.Pro485=) rs1554390925
NM_000245.4(MET):c.1456G>C (p.Val486Leu) rs746334800
NM_000245.4(MET):c.145G>A (p.Glu49Lys) rs1060503528
NM_000245.4(MET):c.1465G>A (p.Glu489Lys) rs1391853762
NM_000245.4(MET):c.1469T>A (p.Val490Glu)
NM_000245.4(MET):c.146A>C (p.Glu49Ala) rs370499060
NM_000245.4(MET):c.1470G>C (p.Val490=) rs1281860482
NM_000245.4(MET):c.1472T>C (p.Ile491Thr) rs561588772
NM_000245.4(MET):c.1476G>T (p.Val492=) rs528788133
NM_000245.4(MET):c.1477G>A (p.Glu493Lys) rs965319455
NM_000245.4(MET):c.1479G>A (p.Glu493=) rs1793383550
NM_000245.4(MET):c.1483A>C (p.Thr495Pro) rs1793383674
NM_000245.4(MET):c.1484C>A (p.Thr495Lys) rs45585831
NM_000245.4(MET):c.1484C>G (p.Thr495Arg) rs45585831
NM_000245.4(MET):c.1484C>T (p.Thr495Ile)
NM_000245.4(MET):c.1485A>C (p.Thr495=) rs760256871
NM_000245.4(MET):c.1485A>G (p.Thr495=) rs760256871
NM_000245.4(MET):c.1488A>G (p.Leu496=) rs2116827541
NM_000245.4(MET):c.1489A>G (p.Asn497Asp) rs766209435
NM_000245.4(MET):c.1496A>C (p.Asn499Thr) rs1253878709
NM_000245.4(MET):c.1496A>G (p.Asn499Ser) rs1253878709
NM_000245.4(MET):c.1498G>A (p.Gly500Ser)
NM_000245.4(MET):c.1503C>T (p.Tyr501=) rs2116827932
NM_000245.4(MET):c.1505C>T (p.Thr502Ile) rs2116827998
NM_000245.4(MET):c.1506A>T (p.Thr502=)
NM_000245.4(MET):c.1507C>G (p.Leu503Val) rs1417433919
NM_000245.4(MET):c.1508T>A (p.Leu503Gln) rs1562908826
NM_000245.4(MET):c.1513A>T (p.Ile505Phe) rs1584922200
NM_000245.4(MET):c.1515C>T (p.Ile505=) rs1424420830
NM_000245.4(MET):c.1518T>C (p.Thr506=) rs902884572
NM_000245.4(MET):c.151C>T (p.Pro51Ser) rs758016814
NM_000245.4(MET):c.1522A>G (p.Lys508Glu)
NM_000245.4(MET):c.1523A>G (p.Lys508Arg)
NM_000245.4(MET):c.1523A>T (p.Lys508Met)
NM_000245.4(MET):c.1526A>T (p.Lys509Met)
NM_000245.4(MET):c.1527+11C>T
NM_000245.4(MET):c.1527+15C>A rs757455983
NM_000245.4(MET):c.1527+15C>T rs757455983
NM_000245.4(MET):c.1527+17G>A rs746281781
NM_000245.4(MET):c.1527+18G>A
NM_000245.4(MET):c.1527+1G>A rs1584922241
NM_000245.4(MET):c.1527+4A>G rs1793387054
NM_000245.4(MET):c.1527+5G>A
NM_000245.4(MET):c.1527+6C>A rs1793387165
NM_000245.4(MET):c.1527+6C>G rs1793387165
NM_000245.4(MET):c.1528-10C>G rs757448894
NM_000245.4(MET):c.1528-11T>C
NM_000245.4(MET):c.1528-13del
NM_000245.4(MET):c.1528-14C>T rs2116833406
NM_000245.4(MET):c.1528-16C>T
NM_000245.4(MET):c.1528-19C>T
NM_000245.4(MET):c.1528-20T>C
NM_000245.4(MET):c.1528-20T>G
NM_000245.4(MET):c.1528-7T>G
NM_000245.4(MET):c.1528-8C>T
NM_000245.4(MET):c.1528-9T>A
NM_000245.4(MET):c.1531A>T (p.Thr511Ser) rs1181927481
NM_000245.4(MET):c.1533G>C (p.Thr511=)
NM_000245.4(MET):c.1535A>C (p.Lys512Thr) rs1793417875
NM_000245.4(MET):c.1538T>A (p.Ile513Asn) rs1584923080
NM_000245.4(MET):c.1538T>C (p.Ile513Thr) rs1584923080
NM_000245.4(MET):c.1539C>A (p.Ile513=)
NM_000245.4(MET):c.1540C>G (p.Pro514Ala) rs756526057
NM_000245.4(MET):c.1540C>T (p.Pro514Ser)
NM_000245.4(MET):c.1541C>A (p.Pro514Gln) rs1793418567
NM_000245.4(MET):c.1542A>G (p.Pro514=) rs1584923096
NM_000245.4(MET):c.1545G>C (p.Leu515Phe) rs1554391227
NM_000245.4(MET):c.1547A>G (p.Asn516Ser)
NM_000245.4(MET):c.1548T>C (p.Asn516=) rs1554391232
NM_000245.4(MET):c.1550G>C (p.Gly517Ala)
NM_000245.4(MET):c.1552T>C (p.Leu518=) rs780293990
NM_000245.4(MET):c.1553T>C (p.Leu518Ser) rs2116834331
NM_000245.4(MET):c.1555G>A (p.Gly519Ser)
NM_000245.4(MET):c.1560C>A (p.Cys520Ter) rs1584923132
NM_000245.4(MET):c.1561A>G (p.Arg521Gly) rs1176112251
NM_000245.4(MET):c.1563A>G (p.Arg521=) rs755470995
NM_000245.4(MET):c.1568T>C (p.Phe523Ser) rs1793420216
NM_000245.4(MET):c.1568T>G (p.Phe523Cys) rs1793420216
NM_000245.4(MET):c.1569C>G (p.Phe523Leu)
NM_000245.4(MET):c.1570C>G (p.Gln524Glu) rs2116834835
NM_000245.4(MET):c.1571A>T (p.Gln524Leu) rs1584923162
NM_000245.4(MET):c.1572G>C (p.Gln524His)
NM_000245.4(MET):c.157C>A (p.Gln53Lys)
NM_000245.4(MET):c.1580G>A (p.Ser527Asn) rs1328454755
NM_000245.4(MET):c.1582C>T (p.Gln528Ter)
NM_000245.4(MET):c.1587C>T (p.Cys529=)
NM_000245.4(MET):c.158A>G (p.Gln53Arg) rs1002286461
NM_000245.4(MET):c.1590C>A (p.Leu530=)
NM_000245.4(MET):c.1590C>G (p.Leu530=)
NM_000245.4(MET):c.1593T>G (p.Ser531=)
NM_000245.4(MET):c.1594G>A (p.Ala532Thr) rs1793421596
NM_000245.4(MET):c.1597C>A (p.Pro533Thr) rs1793422040
NM_000245.4(MET):c.1598C>T (p.Pro533Leu) rs2116835610
NM_000245.4(MET):c.159G>A (p.Gln53=)
NM_000245.4(MET):c.159G>C (p.Gln53His) rs1791464303
NM_000245.4(MET):c.1600C>T (p.Pro534Ser) rs200283364
NM_000245.4(MET):c.1601C>T (p.Pro534Leu) rs1793422444
NM_000245.4(MET):c.1602C>A (p.Pro534=) rs1554391268
NM_000245.4(MET):c.1602C>T (p.Pro534=)
NM_000245.4(MET):c.1603T>C (p.Phe535Leu) rs1793422722
NM_000245.4(MET):c.1610A>G (p.Gln537Arg)
NM_000245.4(MET):c.1611G>A (p.Gln537=)
NM_000245.4(MET):c.1612T>C (p.Cys538Arg)
NM_000245.4(MET):c.1617C>G (p.Gly539=) rs776490266
NM_000245.4(MET):c.161A>G (p.Asn54Ser)
NM_000245.4(MET):c.1622G>C (p.Cys541Ser) rs2116836106
NM_000245.4(MET):c.1623C>G (p.Cys541Trp)
NM_000245.4(MET):c.1625A>G (p.His542Arg)
NM_000245.4(MET):c.1626C>A (p.His542Gln) rs762898756
NM_000245.4(MET):c.1627G>A (p.Asp543Asn) rs763991073
NM_000245.4(MET):c.1627G>C (p.Asp543His)
NM_000245.4(MET):c.1629C>T (p.Asp543=) rs2116836336
NM_000245.4(MET):c.1634G>A (p.Cys545Tyr)
NM_000245.4(MET):c.1636G>C (p.Val546Leu)
NM_000245.4(MET):c.1637T>A (p.Val546Glu) rs993463693
NM_000245.4(MET):c.1638G>A (p.Val546=) rs1240760202
NM_000245.4(MET):c.1639C>T (p.Arg547Ter) rs1047795344
NM_000245.4(MET):c.1640G>C (p.Arg547Pro) rs761951444
NM_000245.4(MET):c.1641A>C (p.Arg547=) rs1554391313
NM_000245.4(MET):c.1643C>G (p.Ser548Trp)
NM_000245.4(MET):c.1645G>A (p.Glu549Lys)
NM_000245.4(MET):c.1646A>G (p.Glu549Gly)
NM_000245.4(MET):c.1647G>A (p.Glu549=) rs1584923365
NM_000245.4(MET):c.1650A>G (p.Glu550=) rs2116836870
NM_000245.4(MET):c.1654C>T (p.Leu552=)
NM_000245.4(MET):c.1655T>C (p.Leu552Pro) rs2116837022
NM_000245.4(MET):c.1656G>A (p.Leu552=)
NM_000245.4(MET):c.1657A>T (p.Ser553Cys)
NM_000245.4(MET):c.1661G>C (p.Gly554Ala)
NM_000245.4(MET):c.1665A>G (p.Thr555=) rs1554391336
NM_000245.4(MET):c.1665A>T (p.Thr555=) rs1554391336
NM_000245.4(MET):c.166A>G (p.Ile56Val) rs746806941
NM_000245.4(MET):c.1670C>T (p.Thr557Ile) rs1584923423
NM_000245.4(MET):c.1671T>C (p.Thr557=) rs2116837479
NM_000245.4(MET):c.1676A>G (p.Gln559Arg) rs45460604
NM_000245.4(MET):c.1677G>A (p.Gln559=) rs1290346524
NM_000245.4(MET):c.1678A>G (p.Ile560Val) rs1351634349
NM_000245.4(MET):c.1682G>C (p.Cys561Ser)
NM_000245.4(MET):c.1686G>C (p.Leu562=) rs2116837926
NM_000245.4(MET):c.1687C>T (p.Pro563Ser)
NM_000245.4(MET):c.1689T>C (p.Pro563=) rs1282444375
NM_000245.4(MET):c.1692A>C (p.Ala564=)
NM_000245.4(MET):c.1692A>G (p.Ala564=) rs780855618
NM_000245.4(MET):c.1694T>C (p.Ile565Thr) rs1584923517
NM_000245.4(MET):c.1696T>G (p.Tyr566Asp)
NM_000245.4(MET):c.16G>A (p.Val6Met)
NM_000245.4(MET):c.16G>T (p.Val6Leu) rs1395233386
NM_000245.4(MET):c.1700A>G (p.Lys567Arg) rs1793429138
NM_000245.4(MET):c.1701+11_1701+12del rs2116838472
NM_000245.4(MET):c.1701+12T>C rs2116838554
NM_000245.4(MET):c.1701+14dup rs1295548832
NM_000245.4(MET):c.1701+15C>T
NM_000245.4(MET):c.1701+16A>G
NM_000245.4(MET):c.1701+18C>T
NM_000245.4(MET):c.1701+20G>A
NM_000245.4(MET):c.1701+3A>C rs779880717
NM_000245.4(MET):c.1701+58dup rs112241458
NM_000245.4(MET):c.1701+59G>T rs759007523
NM_000245.4(MET):c.1701G>C (p.Lys567Asn) rs1793429265
NM_000245.4(MET):c.1701G>T (p.Lys567Asn)
NM_000245.4(MET):c.1702-10G>A rs2116908387
NM_000245.4(MET):c.1702-11T>C
NM_000245.4(MET):c.1702-11del
NM_000245.4(MET):c.1702-13G>A
NM_000245.4(MET):c.1702-15A>C rs200635057
NM_000245.4(MET):c.1702-15A>G
NM_000245.4(MET):c.1702-17C>G
NM_000245.4(MET):c.1702-17C>T
NM_000245.4(MET):c.1702-18T>A
NM_000245.4(MET):c.1702-18T>G
NM_000245.4(MET):c.1702-1G>C rs747390610
NM_000245.4(MET):c.1702-5T>A
NM_000245.4(MET):c.1702-8C>T rs1554394916
NM_000245.4(MET):c.1703T>C (p.Val568Ala)
NM_000245.4(MET):c.1713T>C (p.Asn571=)
NM_000245.4(MET):c.1715G>T (p.Ser572Ile)
NM_000245.4(MET):c.1716T>C (p.Ser572=) rs1382410716
NM_000245.4(MET):c.1717G>A (p.Ala573Thr)
NM_000245.4(MET):c.1718C>T (p.Ala573Val) rs1429917144
NM_000245.4(MET):c.1719A>C (p.Ala573=) rs199776656
NM_000245.4(MET):c.1722C>A (p.Pro574=) rs1562920359
NM_000245.4(MET):c.1722C>T (p.Pro574=) rs1562920359
NM_000245.4(MET):c.172C>A (p.His58Asn) rs1791464742
NM_000245.4(MET):c.1730G>A (p.Gly577Glu)
NM_000245.4(MET):c.1731A>C (p.Gly577=) rs2116909048
NM_000245.4(MET):c.1732G>A (p.Gly578Arg) rs1584939128
NM_000245.4(MET):c.1734G>A (p.Gly578=) rs2116909104
NM_000245.4(MET):c.1735A>G (p.Thr579Ala)
NM_000245.4(MET):c.1736C>T (p.Thr579Ile)
NM_000245.4(MET):c.1740G>T (p.Arg580Ser) rs1182994959
NM_000245.4(MET):c.1741C>G (p.Leu581Val)
NM_000245.4(MET):c.1741C>T (p.Leu581=) rs1584939151
NM_000245.4(MET):c.1745C>T (p.Thr582Ile)
NM_000245.4(MET):c.1746C>T (p.Thr582=) rs2116909310
NM_000245.4(MET):c.1747A>G (p.Ile583Val)
NM_000245.4(MET):c.174T>C (p.His58=) rs1554378291
NM_000245.4(MET):c.174T>G (p.His58Gln) rs1554378291
NM_000245.4(MET):c.1752T>C (p.Cys584=) rs2116909383
NM_000245.4(MET):c.1758G>T (p.Trp586Cys) rs1562920414
NM_000245.4(MET):c.1764T>C (p.Phe588=) rs2116909571
NM_000245.4(MET):c.1765G>C (p.Gly589Arg)
NM_000245.4(MET):c.176A>G (p.Glu59Gly) rs1554378297
NM_000245.4(MET):c.1770T>G (p.Phe590Leu) rs199542598
NM_000245.4(MET):c.1773G>A (p.Arg591=)
NM_000245.4(MET):c.1776G>C (p.Arg592Ser)
NM_000245.4(MET):c.1780A>G (p.Asn594Asp) rs1794141895
NM_000245.4(MET):c.1784A>C (p.Lys595Thr) rs1584939204
NM_000245.4(MET):c.1787T>A (p.Phe596Tyr) rs1330648228
NM_000245.4(MET):c.1789G>C (p.Asp597His) rs769073123
NM_000245.4(MET):c.1789G>T (p.Asp597Tyr) rs769073123
NM_000245.4(MET):c.1791T>C (p.Asp597=)
NM_000245.4(MET):c.1794A>G (p.Leu598=) rs2116910054
NM_000245.4(MET):c.1795A>G (p.Lys599Glu) rs2116910086
NM_000245.4(MET):c.1798A>G (p.Lys600Glu)
NM_000245.4(MET):c.1799A>C (p.Lys600Thr)
NM_000245.4(MET):c.179A>G (p.His60Arg) rs776426414
NM_000245.4(MET):c.17T>G (p.Val6Gly)
NM_000245.4(MET):c.1801A>G (p.Thr601Ala) rs1216005099
NM_000245.4(MET):c.1803T>C (p.Thr601=) rs763481809
NM_000245.4(MET):c.1805G>A (p.Arg602Lys) rs1484732727
NM_000245.4(MET):c.1807G>A (p.Val603Ile) rs2116910262
NM_000245.4(MET):c.1810C>A (p.Leu604Ile) rs201861645
NM_000245.4(MET):c.1812_1814del (p.Leu605del) rs1060503535
NM_000245.4(MET):c.1813C>T (p.Leu605Phe) rs774945178
NM_000245.4(MET):c.1819A>C (p.Asn607His)
NM_000245.4(MET):c.181C>G (p.His61Asp) rs368942722
NM_000245.4(MET):c.1820A>G (p.Asn607Ser) rs2116910444
NM_000245.4(MET):c.1821T>A (p.Asn607Lys) rs762389147
NM_000245.4(MET):c.1821T>C (p.Asn607=)
NM_000245.4(MET):c.1822G>A (p.Glu608Lys) rs2116910480
NM_000245.4(MET):c.1824G>A (p.Glu608=) rs2116910513
NM_000245.4(MET):c.1824G>C (p.Glu608Asp)
NM_000245.4(MET):c.1825A>G (p.Ser609Gly)
NM_000245.4(MET):c.1826G>A (p.Ser609Asn) rs1554394973
NM_000245.4(MET):c.1832C>A (p.Thr611Asn)
NM_000245.4(MET):c.1833C>A (p.Thr611=) rs924927810
NM_000245.4(MET):c.1838C>A (p.Thr613Asn) rs1258088041
NM_000245.4(MET):c.1844G>A (p.Ser615Asn) rs1794144964
NM_000245.4(MET):c.1845T>C (p.Ser615=) rs2116910884
NM_000245.4(MET):c.1848G>C (p.Glu616Asp) rs2116910921
NM_000245.4(MET):c.1848_1849delinsTT (p.Glu616_Ser617delinsAspCys) rs1794145066
NM_000245.4(MET):c.1849A>G (p.Ser617Gly)
NM_000245.4(MET):c.1850G>A (p.Ser617Asn) rs1481812764
NM_000245.4(MET):c.1857G>A (p.Met619Ile)
NM_000245.4(MET):c.1859A>G (p.Asn620Ser) rs2116911133
NM_000245.4(MET):c.1860T>C (p.Asn620=)
NM_000245.4(MET):c.1862+12A>G
NM_000245.4(MET):c.1862+15dup rs768074029
NM_000245.4(MET):c.1862+1G>A rs1013431413
NM_000245.4(MET):c.1862+7A>C
NM_000245.4(MET):c.1862+8T>A
NM_000245.4(MET):c.1862+8T>C
NM_000245.4(MET):c.1863-11T>C rs2116919514
NM_000245.4(MET):c.1863-13G>C rs764856420
NM_000245.4(MET):c.1863-13G>T
NM_000245.4(MET):c.1863-16T>C rs759151928
NM_000245.4(MET):c.1863-17_1863-16del
NM_000245.4(MET):c.1863-18T>C
NM_000245.4(MET):c.1863-19C>T
NM_000245.4(MET):c.1863-2A>G rs1370688649
NM_000245.4(MET):c.1863-5T>C rs751421114
NM_000245.4(MET):c.1863-5del rs766900241
NM_000245.4(MET):c.1863-5dup rs766900241
NM_000245.4(MET):c.1863-7T>C rs763829971
NM_000245.4(MET):c.1863-7T>G rs763829971
NM_000245.4(MET):c.1863A>G (p.Thr621=) rs1794219866
NM_000245.4(MET):c.1865T>G (p.Leu622Trp) rs1794220084
NM_000245.4(MET):c.1866G>C (p.Leu622Phe) rs1562921668
NM_000245.4(MET):c.1868A>G (p.Lys623Arg) rs2116919726
NM_000245.4(MET):c.1869A>G (p.Lys623=)
NM_000245.4(MET):c.186T>A (p.Ile62=) rs2116582418
NM_000245.4(MET):c.1871G>T (p.Cys624Phe) rs1794220294
NM_000245.4(MET):c.1872C>T (p.Cys624=)
NM_000245.4(MET):c.1874C>T (p.Thr625Ile)
NM_000245.4(MET):c.1875A>T (p.Thr625=)
NM_000245.4(MET):c.1877T>C (p.Val626Ala)
NM_000245.4(MET):c.1879G>T (p.Gly627Cys) rs2116919915
NM_000245.4(MET):c.1880G>A (p.Gly627Asp)
NM_000245.4(MET):c.1881T>G (p.Gly627=) rs200050499
NM_000245.4(MET):c.1890G>A (p.Met630Ile)
NM_000245.4(MET):c.1890G>T (p.Met630Ile) rs756209410
NM_000245.4(MET):c.1891A>G (p.Asn631Asp)
NM_000245.4(MET):c.1892A>G (p.Asn631Ser)
NM_000245.4(MET):c.1893T>G (p.Asn631Lys) rs1250868411
NM_000245.4(MET):c.1896G>A (p.Lys632=) rs749484691
NM_000245.4(MET):c.1896G>T (p.Lys632Asn) rs749484691
NM_000245.4(MET):c.1897C>T (p.His633Tyr)
NM_000245.4(MET):c.1898A>T (p.His633Leu) rs45586239
NM_000245.4(MET):c.1902C>G (p.Phe634Leu) rs772450441
NM_000245.4(MET):c.190C>G (p.Leu64Val) rs1791466070
NM_000245.4(MET):c.1911C>T (p.Ser637=) rs2116920428
NM_000245.4(MET):c.1912A>G (p.Ile638Val) rs1060503536
NM_000245.4(MET):c.1912A>T (p.Ile638Leu) rs1060503536
NM_000245.4(MET):c.1913T>C (p.Ile638Thr) rs1554395371
NM_000245.4(MET):c.1923A>G (p.Ser641=)
NM_000245.4(MET):c.1924A>C (p.Asn642His)
NM_000245.4(MET):c.1927G>T (p.Gly643Cys)
NM_000245.4(MET):c.1928G>A (p.Gly643Asp)
NM_000245.4(MET):c.1933G>A (p.Gly645Arg) rs763849125
NM_000245.4(MET):c.1934G>A (p.Gly645Glu)
NM_000245.4(MET):c.1936A>G (p.Thr646Ala)
NM_000245.4(MET):c.1937C>T (p.Thr646Ile) rs751307227
NM_000245.4(MET):c.1938A>G (p.Thr646=) rs2116920903
NM_000245.4(MET):c.1938A>T (p.Thr646=)
NM_000245.4(MET):c.1939A>G (p.Thr647Ala)
NM_000245.4(MET):c.1944_1945delinsGC (p.Tyr649His)
NM_000245.4(MET):c.1945T>C (p.Tyr649His)
NM_000245.4(MET):c.1952C>T (p.Thr651Ile) rs2116921189
NM_000245.4(MET):c.1953A>G (p.Thr651=) rs2116921218
NM_000245.4(MET):c.1958C>T (p.Ser653Phe) rs1554395395
NM_000245.4(MET):c.1958_1960del (p.Ser653del) rs1430652609
NM_000245.4(MET):c.1961A>G (p.Tyr654Cys) rs1554395399
NM_000245.4(MET):c.1965+10_1965+11insAA rs754083112
NM_000245.4(MET):c.1965+11T>C
NM_000245.4(MET):c.1965+11T>G rs780230492
NM_000245.4(MET):c.1965+19_1965+20insTACCAAAA
NM_000245.4(MET):c.1965+20A>G rs587777952
NM_000245.4(MET):c.1965+4A>C rs1362532895
NM_000245.4(MET):c.1965+7A>G rs2116921524
NM_000245.4(MET):c.1965+9G>A rs2116921566
NM_000245.4(MET):c.1966-11C>T rs2116922731
NM_000245.4(MET):c.1966-13A>T rs767305539
NM_000245.4(MET):c.1966-16T>C
NM_000245.4(MET):c.1966-3C>T
NM_000245.4(MET):c.1966-7C>A
NM_000245.4(MET):c.1966-7C>T
NM_000245.4(MET):c.1966-8C>G
NM_000245.4(MET):c.1968T>A (p.Asp656Glu)
NM_000245.4(MET):c.1968T>C (p.Asp656=)
NM_000245.4(MET):c.196G>A (p.Ala66Thr)
NM_000245.4(MET):c.1971T>C (p.Pro657=)
NM_000245.4(MET):c.1972G>C (p.Val658Leu) rs587778446
NM_000245.4(MET):c.1973T>C (p.Val658Ala) rs1584941533
NM_000245.4(MET):c.1974A>G (p.Val658=)
NM_000245.4(MET):c.1977A>G (p.Ile659Met) rs1794236479
NM_000245.4(MET):c.1979C>A (p.Thr660Lys)
NM_000245.4(MET):c.1979C>T (p.Thr660Ile) rs1584941563
NM_000245.4(MET):c.1982G>A (p.Ser661Asn) rs755139610
NM_000245.4(MET):c.1989G>C (p.Ser663=)
NM_000245.4(MET):c.1989G>T (p.Ser663=) rs201180585
NM_000245.4(MET):c.1990C>T (p.Pro664Ser)
NM_000245.4(MET):c.1991C>T (p.Pro664Leu) rs1367341975
NM_000245.4(MET):c.1992G>T (p.Pro664=)
NM_000245.4(MET):c.1994A>T (p.Lys665Ile)
NM_000245.4(MET):c.1995A>G (p.Lys665=) rs2116923469
NM_000245.4(MET):c.1998C>A (p.Tyr666Ter) rs566540058
NM_000245.4(MET):c.1998C>G (p.Tyr666Ter)
NM_000245.4(MET):c.1999G>A (p.Gly667Ser)
NM_000245.4(MET):c.1999_2018del (p.Gly667fs) rs2116923507
NM_000245.4(MET):c.199A>T (p.Thr67Ser) rs202047059
NM_000245.4(MET):c.2005A>G (p.Met669Val) rs1344902873
NM_000245.4(MET):c.2007G>T (p.Met669Ile)
NM_000245.4(MET):c.200_201delinsAC (p.Thr67Asn)
NM_000245.4(MET):c.2015G>A (p.Gly672Asp) rs2116923826
NM_000245.4(MET):c.2016C>T (p.Gly672=) rs768149852
NM_000245.4(MET):c.2018C>G (p.Thr673Ser) rs1401138460
NM_000245.4(MET):c.2018C>T (p.Thr673Ile)
NM_000245.4(MET):c.2027C>A (p.Thr676Asn) rs2116924095
NM_000245.4(MET):c.2027C>T (p.Thr676Ile)
NM_000245.4(MET):c.2034T>G (p.Thr678=) rs773107496
NM_000245.4(MET):c.2037A>G (p.Gly679=)
NM_000245.4(MET):c.2043C>G (p.Tyr681Ter) rs1354964885
NM_000245.4(MET):c.2045T>G (p.Leu682Arg)
NM_000245.4(MET):c.2046A>C (p.Leu682=) rs760609715
NM_000245.4(MET):c.204C>T (p.Asn68=)
NM_000245.4(MET):c.2050A>G (p.Ser684Gly) rs1554395462
NM_000245.4(MET):c.2055G>T (p.Gly685=) rs766401668
NM_000245.4(MET):c.2059T>C (p.Ser687Pro) rs1562922167
NM_000245.4(MET):c.2061T>C (p.Ser687=) rs776651937
NM_000245.4(MET):c.2062A>G (p.Arg688Gly) rs1584941772
NM_000245.4(MET):c.2065C>T (p.His689Tyr) rs1794244388
NM_000245.4(MET):c.2070T>C (p.Ile690=) rs759396158
NM_000245.4(MET):c.2071T>G (p.Ser691Ala)
NM_000245.4(MET):c.2074A>G (p.Ile692Val)
NM_000245.4(MET):c.2075T>C (p.Ile692Thr) rs1183432579
NM_000245.4(MET):c.2078G>A (p.Gly693Asp)
NM_000245.4(MET):c.2079T>A (p.Gly693=) rs1584941818
NM_000245.4(MET):c.2079T>C (p.Gly693=) rs1584941818
NM_000245.4(MET):c.207C>T (p.Tyr69=) rs1454856933
NM_000245.4(MET):c.2080G>A (p.Gly694Arg) rs2116925025
NM_000245.4(MET):c.2081G>A (p.Gly694Glu) rs1584941830
NM_000245.4(MET):c.2082A>C (p.Gly694=) rs1156480798
NM_000245.4(MET):c.2082A>T (p.Gly694=)
NM_000245.4(MET):c.2086del (p.Thr696fs) rs1794245712
NM_000245.4(MET):c.2087C>T (p.Thr696Ile)
NM_000245.4(MET):c.2088A>G (p.Thr696=) rs201378674
NM_000245.4(MET):c.2088A>T (p.Thr696=) rs201378674
NM_000245.4(MET):c.208A>G (p.Ile70Val) rs2116582927
NM_000245.4(MET):c.2091T>C (p.Cys697=)
NM_000245.4(MET):c.2092A>G (p.Thr698Ala) rs1794246284
NM_000245.4(MET):c.2099A>G (p.Lys700Arg) rs751907602
NM_000245.4(MET):c.2100A>C (p.Lys700Asn) rs1794246923
NM_000245.4(MET):c.2101A>C (p.Ser701Arg)
NM_000245.4(MET):c.2102+16T>G
NM_000245.4(MET):c.2102+20del
NM_000245.4(MET):c.2102+4T>C rs200601372
NM_000245.4(MET):c.2102+5T>A rs1794247110
NM_000245.4(MET):c.2102+5T>G rs1794247110
NM_000245.4(MET):c.2102+6G>T rs757561412
NM_000245.4(MET):c.2102+9A>C
NM_000245.4(MET):c.2103-15del rs1164805994
NM_000245.4(MET):c.2103-16A>G
NM_000245.4(MET):c.2103-16_2103-11dup
NM_000245.4(MET):c.2103-1G>T rs1336351205
NM_000245.4(MET):c.2103-20_2103-17del rs2116929536
NM_000245.4(MET):c.2103-2A>T rs1470403316
NM_000245.4(MET):c.2103-3C>T rs1431679847
NM_000245.4(MET):c.2103-6G>A rs1475118987
NM_000245.4(MET):c.2103-7del rs761227260
NM_000245.4(MET):c.2103-7dup rs761227260
NM_000245.4(MET):c.2103-8_2103-7del rs761227260
NM_000245.4(MET):c.2103-9T>C
NM_000245.4(MET):c.2103-9T>G rs763948315
NM_000245.4(MET):c.2103T>C (p.Ser701=) rs1554395656
NM_000245.4(MET):c.2104G>C (p.Val702Leu) rs1485891606
NM_000245.4(MET):c.2105T>C (p.Val702Ala)
NM_000245.4(MET):c.2110A>T (p.Asn704Tyr)
NM_000245.4(MET):c.2111A>G (p.Asn704Ser) rs1794272939
NM_000245.4(MET):c.2112C>A (p.Asn704Lys) rs1458912347
NM_000245.4(MET):c.2114G>A (p.Ser705Asn) rs1003586623
NM_000245.4(MET):c.2120T>C (p.Leu707Pro)
NM_000245.4(MET):c.2122G>A (p.Glu708Lys) rs2116930184
NM_000245.4(MET):c.2126G>A (p.Cys709Tyr) rs1554395668
NM_000245.4(MET):c.212A>G (p.Tyr71Cys) rs1260635670
NM_000245.4(MET):c.2134C>G (p.Pro712Ala)
NM_000245.4(MET):c.2137G>A (p.Ala713Thr)
NM_000245.4(MET):c.2144C>A (p.Thr715Asn) rs1554395680
NM_000245.4(MET):c.2145C>A (p.Thr715=) rs1584942689
NM_000245.4(MET):c.2145C>T (p.Thr715=) rs1584942689
NM_000245.4(MET):c.2146A>G (p.Ile716Val)
NM_000245.4(MET):c.2147T>C (p.Ile716Thr)
NM_000245.4(MET):c.214G>A (p.Val72Ile) rs762253815
NM_000245.4(MET):c.2153C>G (p.Thr718Ser)
NM_000245.4(MET):c.2157G>A (p.Glu719=) rs2116930988
NM_000245.4(MET):c.2159T>A (p.Phe720Tyr) rs2116931016
NM_000245.4(MET):c.2160T>A (p.Phe720Leu)
NM_000245.4(MET):c.2160T>C (p.Phe720=)
NM_000245.4(MET):c.2161G>T (p.Ala721Ser)
NM_000245.4(MET):c.2163T>A (p.Ala721=) rs2116931078
NM_000245.4(MET):c.2166T>G (p.Val722=) rs2116931135
NM_000245.4(MET):c.2168A>C (p.Lys723Thr) rs1554395688
NM_000245.4(MET):c.2169A>G (p.Lys723=)
NM_000245.4(MET):c.2175A>G (p.Lys725=)
NM_000245.4(MET):c.2176A>G (p.Ile726Val) rs1794275336
NM_000245.4(MET):c.2178T>C (p.Ile726=)
NM_000245.4(MET):c.2180A>C (p.Asp727Ala)
NM_000245.4(MET):c.2181C>T (p.Asp727=) rs1487292146
NM_000245.4(MET):c.2185G>A (p.Ala729Thr)
NM_000245.4(MET):c.2189A>T (p.Asn730Ile)
NM_000245.4(MET):c.2190C>G (p.Asn730Lys) rs2116931541
NM_000245.4(MET):c.2191C>T (p.Arg731Ter) rs377336878
NM_000245.4(MET):c.2195A>C (p.Glu732Ala) rs1794276426
NM_000245.4(MET):c.21T>G (p.Leu7=) rs2116578054
NM_000245.4(MET):c.2200A>C (p.Ser734Arg) rs754228039
NM_000245.4(MET):c.2200A>G (p.Ser734Gly) rs754228039
NM_000245.4(MET):c.2201G>A (p.Ser734Asn)
NM_000245.4(MET):c.2202C>T (p.Ser734=)
NM_000245.4(MET):c.2203A>G (p.Ile735Val) rs1398648043
NM_000245.4(MET):c.2204dup (p.Phe736fs) rs2116931908
NM_000245.4(MET):c.2205C>T (p.Ile735=) rs1584942785
NM_000245.4(MET):c.2209A>G (p.Ser737Gly) rs755571526
NM_000245.4(MET):c.2210G>A (p.Ser737Asn) rs879254333
NM_000245.4(MET):c.2213A>C (p.Tyr738Ser) rs2116932101
NM_000245.4(MET):c.2214C>T (p.Tyr738=)
NM_000245.4(MET):c.2215C>G (p.Arg739Gly) rs45587940
NM_000245.4(MET):c.2216G>T (p.Arg739Leu)
NM_000245.4(MET):c.2218G>C (p.Glu740Gln)
NM_000245.4(MET):c.2220A>C (p.Glu740Asp) rs1554395720
NM_000245.4(MET):c.2220A>G (p.Glu740=) rs1554395720
NM_000245.4(MET):c.2225C>T (p.Pro742Leu)
NM_000245.4(MET):c.2227A>C (p.Ile743Leu)
NM_000245.4(MET):c.222T>A (p.Asn74Lys) rs767934760
NM_000245.4(MET):c.222T>C (p.Asn74=) rs767934760
NM_000245.4(MET):c.2231T>C (p.Val744Ala)
NM_000245.4(MET):c.2232C>G (p.Val744=) rs1060504944
NM_000245.4(MET):c.2234A>G (p.Tyr745Cys)
NM_000245.4(MET):c.2234A>T (p.Tyr745Phe) rs1794278950
NM_000245.4(MET):c.2238A>T (p.Glu746Asp) rs2116932511
NM_000245.4(MET):c.2242C>A (p.His748Asn) rs2116932590
NM_000245.4(MET):c.2243A>G (p.His748Arg)
NM_000245.4(MET):c.2244T>C (p.His748=) rs2116932632
NM_000245.4(MET):c.2245C>G (p.Pro749Ala) rs1584942863
NM_000245.4(MET):c.2246C>T (p.Pro749Leu) rs1794279427
NM_000245.4(MET):c.2248A>C (p.Thr750Pro)
NM_000245.4(MET):c.2248A>G (p.Thr750Ala) rs1060503531
NM_000245.4(MET):c.2253A>G (p.Lys751=)
NM_000245.4(MET):c.2255C>A (p.Ser752Tyr)
NM_000245.4(MET):c.2259T>C (p.Phe753=) rs2116932790
NM_000245.4(MET):c.2263A>C (p.Ser755Arg) rs981401332
NM_000245.4(MET):c.2264+10A>C
NM_000245.4(MET):c.2264+15C>T
NM_000245.4(MET):c.2264+17G>A rs1794280747
NM_000245.4(MET):c.2264+18A>G rs1449726871
NM_000245.4(MET):c.2264+20G>A
NM_000245.4(MET):c.2264+9A>C
NM_000245.4(MET):c.2265-10G>T rs1355716761
NM_000245.4(MET):c.2265-118del rs1794304820
NM_000245.4(MET):c.2265-15A>C rs201304108
NM_000245.4(MET):c.2265-15A>G rs201304108
NM_000245.4(MET):c.2265-18T>C
NM_000245.4(MET):c.2265-18del rs761305394
NM_000245.4(MET):c.2265-1G>A
NM_000245.4(MET):c.2265-25T>G
NM_000245.4(MET):c.2265-29A>C
NM_000245.4(MET):c.2265-29A>G
NM_000245.4(MET):c.2265-29A>T rs2116937133
NM_000245.4(MET):c.2265-2A>C
NM_000245.4(MET):c.2265-2A>G rs1397775000
NM_000245.4(MET):c.2265-30C>T rs2116937120
NM_000245.4(MET):c.2265-31A>G rs370237186
NM_000245.4(MET):c.2265-33C>A rs2116937074
NM_000245.4(MET):c.2265-35C>T
NM_000245.4(MET):c.2265-37C>G
NM_000245.4(MET):c.2265-3C>T
NM_000245.4(MET):c.2265-41G>A rs1554395868
NM_000245.4(MET):c.2265-46G>A
NM_000245.4(MET):c.2265-46G>T rs1584943653
NM_000245.4(MET):c.2265-48G>A
NM_000245.4(MET):c.2265-48G>T rs587780540
NM_000245.4(MET):c.2265-49G>C rs1196543273
NM_000245.4(MET):c.2265-55G>C
NM_000245.4(MET):c.2265-57C>T rs1562923455
NM_000245.4(MET):c.2265-59T>C
NM_000245.4(MET):c.2265-60T>A
NM_000245.4(MET):c.2265-63C>G rs2116936690
NM_000245.4(MET):c.2265-64T>C
NM_000245.4(MET):c.2265-65C>G rs2116936655
NM_000245.4(MET):c.2265-65C>T rs2116936655
NM_000245.4(MET):c.2265-66C>T
NM_000245.4(MET):c.2265-68T>G
NM_000245.4(MET):c.2265-71G>A
NM_000245.4(MET):c.2265-72T>C
NM_000245.4(MET):c.2265-73T>C rs1794306292
NM_000245.4(MET):c.2265-9C>T rs2116937381
NM_000245.4(MET):c.2266G>A (p.Gly756Ser)
NM_000245.4(MET):c.2267G>A (p.Gly756Asp) rs1794309303
NM_000245.4(MET):c.2271G>T (p.Gly757=)
NM_000245.4(MET):c.2273G>A (p.Ser758Asn) rs2116937610
NM_000245.4(MET):c.2276C>A (p.Thr759Lys) rs1794309783
NM_000245.4(MET):c.2276C>T (p.Thr759Ile)
NM_000245.4(MET):c.2277A>G (p.Thr759=) rs1584943719
NM_000245.4(MET):c.227A>T (p.Glu76Val)
NM_000245.4(MET):c.2280A>T (p.Ile760=) rs2116937734
NM_000245.4(MET):c.2284G>A (p.Gly762Ser) rs1794310272
NM_000245.4(MET):c.2285G>A (p.Gly762Asp) rs1060503541
NM_000245.4(MET):c.2285G>C (p.Gly762Ala) rs1060503541
NM_000245.4(MET):c.2287G>A (p.Val763Ile) rs2116937873
NM_000245.4(MET):c.228A>G (p.Glu76=)
NM_000245.4(MET):c.2293A>G (p.Lys765Glu) rs1554395889
NM_000245.4(MET):c.2299C>G (p.Leu767Val)
NM_000245.4(MET):c.229G>A (p.Asp77Asn) rs372320153
NM_000245.4(MET):c.2304T>C (p.Asn768=) rs2116938117
NM_000245.4(MET):c.2307A>G (p.Ser769=) rs2116938175
NM_000245.4(MET):c.2308G>A (p.Val770Ile)
NM_000245.4(MET):c.2311A>G (p.Ser771Gly)
NM_000245.4(MET):c.2311_2314del (p.Val772fs) rs2116938280
NM_000245.4(MET):c.2312_2315del (p.Ser771fs) rs2116938318
NM_000245.4(MET):c.2317C>T (p.Pro773Ser) rs2116938395
NM_000245.4(MET):c.231C>T (p.Asp77=)
NM_000245.4(MET):c.2320A>C (p.Arg774=) rs2116938453
NM_000245.4(MET):c.2322A>G (p.Arg774=)
NM_000245.4(MET):c.2323A>G (p.Met775Val) rs1794311390
NM_000245.4(MET):c.2326G>A (p.Val776Ile)
NM_000245.4(MET):c.2328C>T (p.Val776=)
NM_000245.4(MET):c.2334T>G (p.Asn778Lys) rs2116938738
NM_000245.4(MET):c.2335G>A (p.Val779Met) rs1562923583
NM_000245.4(MET):c.2337G>A (p.Val779=) rs863224377
NM_000245.4(MET):c.2339A>C (p.His780Pro)
NM_000245.4(MET):c.2347G>C (p.Gly783Arg) rs879254334
NM_000245.4(MET):c.2351G>A (p.Arg784Lys) rs1794313115
NM_000245.4(MET):c.2354A>T (p.Asn785Ile)
NM_000245.4(MET):c.2355C>A (p.Asn785Lys)
NM_000245.4(MET):c.2359A>G (p.Thr787Ala) rs1180556775
NM_000245.4(MET):c.2360C>T (p.Thr787Ile) rs2116939286
NM_000245.4(MET):c.2361A>G (p.Thr787=) rs1027607387
NM_000245.4(MET):c.2363T>C (p.Val788Ala) rs786204142
NM_000245.4(MET):c.2363T>G (p.Val788Gly)
NM_000245.4(MET):c.2364+11T>G rs2116939479
NM_000245.4(MET):c.2364+13A>G
NM_000245.4(MET):c.2364+18T>C
NM_000245.4(MET):c.2364+8del rs1422359365
NM_000245.4(MET):c.2365-10C>G rs2116953381
NM_000245.4(MET):c.2365-11T>A rs1367439751
NM_000245.4(MET):c.2365-19T>A
NM_000245.4(MET):c.2365-3T>C
NM_000245.4(MET):c.2365-4C>G rs1060504943
NM_000245.4(MET):c.2365-5T>C
NM_000245.4(MET):c.2367A>C (p.Ala789=)
NM_000245.4(MET):c.2367A>G (p.Ala789=) rs910873191
NM_000245.4(MET):c.236A>G (p.Gln79Arg) rs1562883214
NM_000245.4(MET):c.2372A>C (p.Gln791Pro)
NM_000245.4(MET):c.2372A>G (p.Gln791Arg) rs1794457657
NM_000245.4(MET):c.2373A>C (p.Gln791His) rs760294359
NM_000245.4(MET):c.2373A>T (p.Gln791His) rs760294359
NM_000245.4(MET):c.2374C>A (p.His792Asn)
NM_000245.4(MET):c.2375A>C (p.His792Pro) rs980467681
NM_000245.4(MET):c.2375A>G (p.His792Arg) rs980467681
NM_000245.4(MET):c.2378G>T (p.Arg793Leu) rs199643166
NM_000245.4(MET):c.2379C>T (p.Arg793=) rs1794458829
NM_000245.4(MET):c.237G>A (p.Gln79=) rs752226182
NM_000245.4(MET):c.2380T>C (p.Ser794Pro) rs2116953849
NM_000245.4(MET):c.2381C>A (p.Ser794Tyr) rs371939364
NM_000245.4(MET):c.2383A>G (p.Asn795Asp) rs200633053
NM_000245.4(MET):c.2388A>G (p.Ser796=)
NM_000245.4(MET):c.2389G>A (p.Glu797Lys) rs1307693651
NM_000245.4(MET):c.2391G>A (p.Glu797=) rs2116954046
NM_000245.4(MET):c.2394A>G (p.Ile798Met)
NM_000245.4(MET):c.2395A>G (p.Ile799Val)
NM_000245.4(MET):c.2398T>A (p.Cys800Ser)
NM_000245.4(MET):c.2399G>T (p.Cys800Phe) rs1209881740
NM_000245.4(MET):c.239A>G (p.Lys80Arg) rs1791468662
NM_000245.4(MET):c.2401T>C (p.Cys801Arg) rs1794461185
NM_000245.4(MET):c.2403T>C (p.Cys801=)
NM_000245.4(MET):c.2404A>G (p.Thr802Ala)
NM_000245.4(MET):c.2405C>T (p.Thr802Ile)
NM_000245.4(MET):c.2406C>T (p.Thr802=) rs1433483763
NM_000245.4(MET):c.2409T>C (p.Thr803=) rs1584946860
NM_000245.4(MET):c.2409T>G (p.Thr803=) rs1584946860
NM_000245.4(MET):c.240G>A (p.Lys80=) rs2116583694
NM_000245.4(MET):c.2412T>C (p.Pro804=) rs2116954506
NM_000245.4(MET):c.2417T>C (p.Leu806Pro) rs1390958903
NM_000245.4(MET):c.2418G>A (p.Leu806=) rs2116954628
NM_000245.4(MET):c.2418G>C (p.Leu806=)
NM_000245.4(MET):c.2419C>A (p.Gln807Lys) rs2116954655
NM_000245.4(MET):c.2420A>G (p.Gln807Arg)
NM_000245.4(MET):c.2424G>A (p.Gln808=)
NM_000245.4(MET):c.2426T>C (p.Leu809Pro)
NM_000245.4(MET):c.2427G>A (p.Leu809=) rs1794462604
NM_000245.4(MET):c.2428A>G (p.Asn810Asp)
NM_000245.4(MET):c.242T>G (p.Val81Gly)
NM_000245.4(MET):c.2430T>A (p.Asn810Lys) rs1160047047
NM_000245.4(MET):c.2431C>A (p.Leu811Met)
NM_000245.4(MET):c.2431C>T (p.Leu811=) rs1584946893
NM_000245.4(MET):c.2432T>A (p.Leu811Gln) rs1554396554
NM_000245.4(MET):c.2432T>C (p.Leu811Pro) rs1554396554
NM_000245.4(MET):c.2434C>G (p.Gln812Glu) rs398123568
NM_000245.4(MET):c.2435A>T (p.Gln812Leu)
NM_000245.4(MET):c.2437C>T (p.Leu813Phe) rs745345346
NM_000245.4(MET):c.2442C>T (p.Pro814=)
NM_000245.4(MET):c.2443C>T (p.Leu815=) rs2116955196
NM_000245.4(MET):c.2444T>C (p.Leu815Pro) rs1554396571
NM_000245.4(MET):c.2445G>A (p.Leu815=)
NM_000245.4(MET):c.2451C>A (p.Thr817=) rs2116955318
NM_000245.4(MET):c.2451C>G (p.Thr817=) rs2116955318
NM_000245.4(MET):c.2453A>G (p.Lys818Arg)
NM_000245.4(MET):c.2455G>T (p.Ala819Ser)
NM_000245.4(MET):c.2456C>G (p.Ala819Gly)
NM_000245.4(MET):c.2457C>A (p.Ala819=) rs746040712
NM_000245.4(MET):c.2457C>T (p.Ala819=) rs746040712
NM_000245.4(MET):c.245C>T (p.Ala82Val) rs1584876240
NM_000245.4(MET):c.2461T>A (p.Phe821Ile)
NM_000245.4(MET):c.2461T>C (p.Phe821Leu) rs1794465668
NM_000245.4(MET):c.2462T>G (p.Phe821Cys)
NM_000245.4(MET):c.2464A>G (p.Met822Val) rs368787826
NM_000245.4(MET):c.2464A>T (p.Met822Leu) rs368787826
NM_000245.4(MET):c.2465T>C (p.Met822Thr) rs1562925631
NM_000245.4(MET):c.2472T>G (p.Asp824Glu) rs1463527073
NM_000245.4(MET):c.2474G>A (p.Gly825Glu) rs1307584609
NM_000245.4(MET):c.2475G>A (p.Gly825=) rs891908277
NM_000245.4(MET):c.2475G>T (p.Gly825=) rs891908277
NM_000245.4(MET):c.2479C>T (p.Leu827Phe) rs2116955879
NM_000245.4(MET):c.2487A>T (p.Lys829Asn)
NM_000245.4(MET):c.2488T>C (p.Tyr830His) rs1794468017
NM_000245.4(MET):c.248A>C (p.Glu83Ala) rs2116583864
NM_000245.4(MET):c.2495A>T (p.Asp832Val)
NM_000245.4(MET):c.2497C>T (p.Leu833Phe)
NM_000245.4(MET):c.2499C>T (p.Leu833=)
NM_000245.4(MET):c.249G>A (p.Glu83=) rs751158831
NM_000245.4(MET):c.24dup (p.Pro9fs)
NM_000245.4(MET):c.2500A>G (p.Ile834Val) rs2116956205
NM_000245.4(MET):c.2501T>A (p.Ile834Asn) rs1215872095
NM_000245.4(MET):c.2503T>C (p.Tyr835His)
NM_000245.4(MET):c.2506G>A (p.Val836Ile) rs372699296
NM_000245.4(MET):c.2506G>T (p.Val836Leu)
NM_000245.4(MET):c.2508A>G (p.Val836=) rs1322202293
NM_000245.4(MET):c.2509C>T (p.His837Tyr) rs1584947043
NM_000245.4(MET):c.2510A>C (p.His837Pro) rs1041349799
NM_000245.4(MET):c.2510A>G (p.His837Arg) rs1041349799
NM_000245.4(MET):c.2514T>C (p.Asn838=)
NM_000245.4(MET):c.2515C>T (p.Pro839Ser)
NM_000245.4(MET):c.2517T>G (p.Pro839=) rs1584947055
NM_000245.4(MET):c.2520G>A (p.Val840=)
NM_000245.4(MET):c.2527C>A (p.Pro843Thr) rs905891313
NM_000245.4(MET):c.2527C>T (p.Pro843Ser)
NM_000245.4(MET):c.2528C>T (p.Pro843Leu) rs762228405
NM_000245.4(MET):c.252C>T (p.Tyr84=) rs1584876265
NM_000245.4(MET):c.2532T>C (p.Phe844=) rs1295247757
NM_000245.4(MET):c.2533G>C (p.Glu845Gln) rs1794470895
NM_000245.4(MET):c.2534A>G (p.Glu845Gly) rs1794471154
NM_000245.4(MET):c.2538G>C (p.Lys846Asn) rs1562925732
NM_000245.4(MET):c.2539C>T (p.Pro847Ser) rs1562925733
NM_000245.4(MET):c.253A>G (p.Lys85Glu) rs1791469321
NM_000245.4(MET):c.2540C>G (p.Pro847Arg) rs2116956803
NM_000245.4(MET):c.2541A>G (p.Pro847=) rs2116956820
NM_000245.4(MET):c.2545A>G (p.Met849Val) rs1584947097
NM_000245.4(MET):c.2547G>T (p.Met849Ile) rs747989932
NM_000245.4(MET):c.2550C>T (p.Ile850=) rs1424567821
NM_000245.4(MET):c.2555T>C (p.Met852Thr) rs369758288
NM_000245.4(MET):c.2557G>A (p.Gly853Ser) rs45575240
NM_000245.4(MET):c.2559C>A (p.Gly853=)
NM_000245.4(MET):c.2559C>T (p.Gly853=)
NM_000245.4(MET):c.255G>T (p.Lys85Asn) rs1327946446
NM_000245.4(MET):c.2561A>G (p.Asn854Ser) rs2116957192
NM_000245.4(MET):c.2568T>G (p.Asn856Lys) rs118057172
NM_000245.4(MET):c.2569G>A (p.Val857Ile) rs1794474122
NM_000245.4(MET):c.2573T>G (p.Leu858Arg) rs1794474295
NM_000245.4(MET):c.2575G>A (p.Glu859Lys)
NM_000245.4(MET):c.2582A>G (p.Lys861Arg) rs895820328
NM_000245.4(MET):c.2583+10G>T rs2116957648
NM_000245.4(MET):c.2583+11C>A rs780485505
NM_000245.4(MET):c.2583+11C>G
NM_000245.4(MET):c.2583+13T>C rs2116957699
NM_000245.4(MET):c.2583+14T>C
NM_000245.4(MET):c.2583+19A>G
NM_000245.4(MET):c.2583+3A>G rs781401324
NM_000245.4(MET):c.2583+5G>A rs1432247099
NM_000245.4(MET):c.2583G>A (p.Lys861=) rs1584947168
NM_000245.4(MET):c.2584-10T>C rs1308148206
NM_000245.4(MET):c.2584-10T>G rs1308148206
NM_000245.4(MET):c.2584-1G>T rs1240673121
NM_000245.4(MET):c.2584-3C>T rs1337305891
NM_000245.4(MET):c.2584-4T>C rs1554397896
NM_000245.4(MET):c.2584-5T>G rs2116982294
NM_000245.4(MET):c.2584-7del rs587780736
NM_000245.4(MET):c.2584-8C>T rs370833501
NM_000245.4(MET):c.2584-9T>G rs74994656
NM_000245.4(MET):c.2584-9_2584-8del rs1491102590
NM_000245.4(MET):c.2584-9del rs57349036
NM_000245.4(MET):c.2585_2605del (p.Gly862_Glu868del)
NM_000245.4(MET):c.2586A>G (p.Gly862=)
NM_000245.4(MET):c.2587A>G (p.Asn863Asp)
NM_000245.4(MET):c.2588A>G (p.Asn863Ser) rs1794766796
NM_000245.4(MET):c.258T>G (p.Thr86=) rs756911444
NM_000245.4(MET):c.2590G>A (p.Asp864Asn)
NM_000245.4(MET):c.2590G>T (p.Asp864Tyr) rs1584953171
NM_000245.4(MET):c.2590_2592del (p.Asp864del)
NM_000245.4(MET):c.2595T>C (p.Ile865=) rs2116982595
NM_000245.4(MET):c.2596G>C (p.Asp866His)
NM_000245.4(MET):c.25C>A (p.Pro9Thr) rs2116578170
NM_000245.4(MET):c.25C>T (p.Pro9Ser) rs2116578170
NM_000245.4(MET):c.2601T>A (p.Pro867=) rs2116982713
NM_000245.4(MET):c.2604A>G (p.Glu868=)
NM_000245.4(MET):c.2606_2607delinsAG (p.Ala869Glu)
NM_000245.4(MET):c.2608G>A (p.Val870Ile)
NM_000245.4(MET):c.2608G>T (p.Val870Phe)
NM_000245.4(MET):c.2614G>A (p.Gly872Ser) rs1794767589
NM_000245.4(MET):c.2615G>T (p.Gly872Val)
NM_000245.4(MET):c.2616T>C (p.Gly872=) rs863224378
NM_000245.4(MET):c.2619A>G (p.Glu873=)
NM_000245.4(MET):c.261G>T (p.Gly87=) rs2116584241
NM_000245.4(MET):c.2620G>A (p.Val874Met) rs1299130122
NM_000245.4(MET):c.2622G>C (p.Val874=)
NM_000245.4(MET):c.2626A>C (p.Lys876Gln) rs368891381
NM_000245.4(MET):c.2629G>T (p.Val877Phe)
NM_000245.4(MET):c.262C>A (p.Pro88Thr)
NM_000245.4(MET):c.262C>G (p.Pro88Ala) rs1169278904
NM_000245.4(MET):c.2631T>C (p.Val877=)
NM_000245.4(MET):c.2638A>G (p.Lys880Glu) rs2116983288
NM_000245.4(MET):c.2640G>A (p.Lys880=)
NM_000245.4(MET):c.2640G>C (p.Lys880Asn)
NM_000245.4(MET):c.2647G>A (p.Glu883Lys) rs769253547
NM_000245.4(MET):c.2653A>G (p.Ile885Val) rs1584953249
NM_000245.4(MET):c.2656C>G (p.His886Asp) rs1209392687
NM_000245.4(MET):c.2657A>G (p.His886Arg) rs2116983578
NM_000245.4(MET):c.2658C>A (p.His886Gln) rs748950533
NM_000245.4(MET):c.265G>A (p.Val89Met) rs1060503544
NM_000245.4(MET):c.2662C>G (p.His888Asp) rs115574135
NM_000245.4(MET):c.2663A>G (p.His888Arg) rs1584953276
NM_000245.4(MET):c.2670A>C (p.Glu890Asp)
NM_000245.4(MET):c.2670A>G (p.Glu890=)
NM_000245.4(MET):c.2672C>G (p.Ala891Gly) rs1562929174
NM_000245.4(MET):c.2672C>T (p.Ala891Val) rs1562929174
NM_000245.4(MET):c.2685G>C (p.Thr895=) rs760722037
NM_000245.4(MET):c.2697C>G (p.Asp899Glu)
NM_000245.4(MET):c.2697C>T (p.Asp899=) rs1584953336
NM_000245.4(MET):c.2698C>A (p.Leu900Met) rs1398243931
NM_000245.4(MET):c.269T>C (p.Leu90Pro) rs1291977283
NM_000245.4(MET):c.26C>T (p.Pro9Leu) rs1355886011
NM_000245.4(MET):c.2700G>T (p.Leu900=) rs921308683
NM_000245.4(MET):c.2701C>G (p.Leu901Val) rs1384134548
NM_000245.4(MET):c.2703G>A (p.Leu901=) rs1374413099
NM_000245.4(MET):c.2707T>C (p.Leu903=) rs2116984374
NM_000245.4(MET):c.270G>A (p.Leu90=)
NM_000245.4(MET):c.2711A>G (p.Asn904Ser) rs765441927
NM_000245.4(MET):c.2718G>A (p.Glu906=) rs752013993
NM_000245.4(MET):c.2719C>T (p.Leu907=) rs1237905483
NM_000245.4(MET):c.272A>G (p.Glu91Gly) rs1791471735
NM_000245.4(MET):c.2730+1G>A
NM_000245.4(MET):c.2730+8T>C
NM_000245.4(MET):c.2731-11G>A
NM_000245.4(MET):c.2731-11del
NM_000245.4(MET):c.2731-13T>C
NM_000245.4(MET):c.2731-17T>C
NM_000245.4(MET):c.2731-18T>G
NM_000245.4(MET):c.2731-4T>C rs2116991247
NM_000245.4(MET):c.2731-6T>C rs1279722189
NM_000245.4(MET):c.2736G>C (p.Lys912Asn) rs1794830011
NM_000245.4(MET):c.2737C>A (p.Gln913Lys) rs1794830159
NM_000245.4(MET):c.2737C>G (p.Gln913Glu)
NM_000245.4(MET):c.2739A>C (p.Gln913His)
NM_000245.4(MET):c.2740G>A (p.Ala914Thr)
NM_000245.4(MET):c.2742A>G (p.Ala914=) rs1208554913
NM_000245.4(MET):c.2745T>G (p.Ile915Met) rs1554398244
NM_000245.4(MET):c.2747C>A (p.Ser916Tyr) rs1288860579
NM_000245.4(MET):c.2747C>T (p.Ser916Phe) rs1288860579
NM_000245.4(MET):c.2748T>G (p.Ser916=)
NM_000245.4(MET):c.274C>G (p.His92Asp) rs1375872823
NM_000245.4(MET):c.2754C>A (p.Thr918=) rs770886012
NM_000245.4(MET):c.275A>G (p.His92Arg)
NM_000245.4(MET):c.2760T>C (p.Leu920=) rs1554398258
NM_000245.4(MET):c.2762G>T (p.Gly921Val)
NM_000245.4(MET):c.2766A>G (p.Lys922=)
NM_000245.4(MET):c.2767G>A (p.Val923Ile) rs1794832354
NM_000245.4(MET):c.2767G>C (p.Val923Leu) rs1794832354
NM_000245.4(MET):c.2769A>G (p.Val923=) rs371015065
NM_000245.4(MET):c.276C>T (p.His92=) rs1224680436
NM_000245.4(MET):c.2770A>G (p.Ile924Val) rs1247472138
NM_000245.4(MET):c.2772A>T (p.Ile924=) rs2116991891
NM_000245.4(MET):c.2773G>A (p.Val925Ile) rs1794833108
NM_000245.4(MET):c.2774T>C (p.Val925Ala) rs922442405
NM_000245.4(MET):c.2777A>G (p.Gln926Arg) rs1464316950
NM_000245.4(MET):c.277C>T (p.Pro93Ser) rs527638748
NM_000245.4(MET):c.2786A>G (p.Gln929Arg) rs1794833626
NM_000245.4(MET):c.278C>G (p.Pro93Arg) rs1306740707
NM_000245.4(MET):c.278C>T (p.Pro93Leu) rs1306740707
NM_000245.4(MET):c.2790T>C (p.Asn930=) rs933744184
NM_000245.4(MET):c.2791T>A (p.Phe931Ile) rs1562930067
NM_000245.4(MET):c.2794A>C (p.Thr932Pro)
NM_000245.4(MET):c.279A>G (p.Pro93=)
NM_000245.4(MET):c.27T>G (p.Pro9=) rs2116578238
NM_000245.4(MET):c.2800T>C (p.Leu934=) rs1554398274
NM_000245.4(MET):c.2803A>G (p.Ile935Val) rs1420349380
NM_000245.4(MET):c.2805T>G (p.Ile935Met)
NM_000245.4(MET):c.2806G>A (p.Ala936Thr) rs1794834628
NM_000245.4(MET):c.2806G>C (p.Ala936Pro)
NM_000245.4(MET):c.2806G>T (p.Ala936Ser) rs1794834628
NM_000245.4(MET):c.2807C>T (p.Ala936Val)
NM_000245.4(MET):c.2809G>A (p.Gly937Ser)
NM_000245.4(MET):c.280G>A (p.Asp94Asn) rs899151863
NM_000245.4(MET):c.2813T>C (p.Val938Ala) rs1554398288
NM_000245.4(MET):c.2822T>G (p.Ile941Arg)
NM_000245.4(MET):c.2823A>G (p.Ile941Met)
NM_000245.4(MET):c.2828C>T (p.Thr943Ile) rs2116992551
NM_000245.4(MET):c.2829A>G (p.Thr943=)
NM_000245.4(MET):c.2830G>A (p.Ala944Thr) rs2116992583
NM_000245.4(MET):c.2832A>C (p.Ala944=) rs1584955001
NM_000245.4(MET):c.2835G>C (p.Leu945=) rs2116992677
NM_000245.4(MET):c.2842C>A (p.Leu948Ile)
NM_000245.4(MET):c.2842C>T (p.Leu948=)
NM_000245.4(MET):c.2843T>C (p.Leu948Pro) rs2116992766
NM_000245.4(MET):c.2844A>G (p.Leu948=) rs2116992782
NM_000245.4(MET):c.2845C>T (p.Leu949Phe)
NM_000245.4(MET):c.2849G>A (p.Gly950Glu) rs2116992857
NM_000245.4(MET):c.2849G>T (p.Gly950Val) rs2116992857
NM_000245.4(MET):c.284G>A (p.Cys95Tyr)
NM_000245.4(MET):c.2850G>A (p.Gly950=)
NM_000245.4(MET):c.2859G>C (p.Leu953=) rs1355100822
NM_000245.4(MET):c.285T>C (p.Cys95=) rs2116584893
NM_000245.4(MET):c.2860T>C (p.Trp954Arg)
NM_000245.4(MET):c.2864T>A (p.Leu955Gln) rs879254335
NM_000245.4(MET):c.2865G>A (p.Leu955=)
NM_000245.4(MET):c.2866A>G (p.Lys956Glu)
NM_000245.4(MET):c.2870A>T (p.Lys957Met) rs1794836962
NM_000245.4(MET):c.2873G>A (p.Arg958Lys)
NM_000245.4(MET):c.2874A>G (p.Arg958=) rs1452848504
NM_000245.4(MET):c.2878C>A (p.Gln960Lys) rs2116993223
NM_000245.4(MET):c.287T>G (p.Phe96Cys) rs371941340
NM_000245.4(MET):c.2880A>T (p.Gln960His) rs2116993238
NM_000245.4(MET):c.2887+12T>C
NM_000245.4(MET):c.2887+16T>A rs1156790048
NM_000245.4(MET):c.2887+17G>A
NM_000245.4(MET):c.2887+17G>C
NM_000245.4(MET):c.2887+17G>T
NM_000245.4(MET):c.2887+17_2887+18del
NM_000245.4(MET):c.2887+18T>C
NM_000245.4(MET):c.2887+1G>T
NM_000245.4(MET):c.2887+3G>A
NM_000245.4(MET):c.2887+5A>T rs752292538
NM_000245.4(MET):c.2887+6T>C rs1584955059
NM_000245.4(MET):c.2887+9T>C
NM_000245.4(MET):c.2888-10C>G rs1060504945
NM_000245.4(MET):c.2888-12C>G
NM_000245.4(MET):c.2888-12_2888-9del
NM_000245.4(MET):c.2888-15T>C rs2116995611
NM_000245.4(MET):c.2888-16_2888-13del rs747887276
NM_000245.4(MET):c.2888-17T>G rs767063578
NM_000245.4(MET):c.2888-18C>G
NM_000245.4(MET):c.2888-21_2888-20delinsGC rs2116995433
NM_000245.4(MET):c.2888-6T>G rs1562930263
NM_000245.4(MET):c.2888A>G (p.Asp963Gly) rs1554398360
NM_000245.4(MET):c.2892G>A (p.Leu964=) rs1584955273
NM_000245.4(MET):c.2893G>A (p.Gly965Ser) rs1413209214
NM_000245.4(MET):c.2897G>A (p.Ser966Asn) rs1460031754
NM_000245.4(MET):c.2902T>C (p.Leu968=)
NM_000245.4(MET):c.2905G>T (p.Val969Phe) rs757925979
NM_000245.4(MET):c.2906T>C (p.Val969Ala)
NM_000245.4(MET):c.2909G>C (p.Arg970Pro) rs45607832
NM_000245.4(MET):c.2909G>T (p.Arg970Leu)
NM_000245.4(MET):c.290C>T (p.Pro97Leu)
NM_000245.4(MET):c.2910C>T (p.Arg970=) rs756957004
NM_000245.4(MET):c.2911_2912insGAGT (p.Tyr971Ter)
NM_000245.4(MET):c.2912A>G (p.Tyr971Cys) rs780819058
NM_000245.4(MET):c.2912A>T (p.Tyr971Phe)
NM_000245.4(MET):c.2917G>A (p.Ala973Thr) rs1584955330
NM_000245.4(MET):c.2918C>G (p.Ala973Gly)
NM_000245.4(MET):c.2920A>G (p.Arg974Gly)
NM_000245.4(MET):c.2921G>A (p.Arg974Lys)
NM_000245.4(MET):c.2921_2946del (p.Arg974fs)
NM_000245.4(MET):c.2926C>T (p.His976Tyr)
NM_000245.4(MET):c.2927A>G (p.His976Arg)
NM_000245.4(MET):c.2928C>T (p.His976=) rs2116996392
NM_000245.4(MET):c.2929A>G (p.Thr977Ala) rs1554398378
NM_000245.4(MET):c.292T>C (p.Cys98Arg) rs1791473262
NM_000245.4(MET):c.2930C>T (p.Thr977Ile) rs1794847178
NM_000245.4(MET):c.2933C>T (p.Pro978Leu) rs1060503540
NM_000245.4(MET):c.2937T>C (p.His979=)
NM_000245.4(MET):c.2941G>A (p.Asp981Asn) rs1794847447
NM_000245.4(MET):c.2941G>C (p.Asp981His) rs1794847447
NM_000245.4(MET):c.2941G>T (p.Asp981Tyr) rs1794847447
NM_000245.4(MET):c.2943T>C (p.Asp981=) rs45561544
NM_000245.4(MET):c.2946G>C (p.Arg982Ser) rs1554398390
NM_000245.4(MET):c.294T>C (p.Cys98=) rs2116585117
NM_000245.4(MET):c.2950G>A (p.Val984Ile) rs1258377870
NM_000245.4(MET):c.2951T>C (p.Val984Ala) rs1794847963
NM_000245.4(MET):c.2951dup (p.Ser985fs)
NM_000245.4(MET):c.2954G>C (p.Ser985Thr) rs779906308
NM_000245.4(MET):c.2956G>T (p.Ala986Ser) rs1794848174
NM_000245.4(MET):c.2959C>T (p.Arg987Ter) rs1554398397
NM_000245.4(MET):c.2960G>A (p.Arg987Gln) rs910937816
NM_000245.4(MET):c.2964T>C (p.Ser988=) rs1554398401
NM_000245.4(MET):c.2965G>A (p.Val989Ile) rs1442896663
NM_000245.4(MET):c.2970C>T (p.Ser990=) rs544081614
NM_000245.4(MET):c.2974A>T (p.Thr992Ser)
NM_000245.4(MET):c.2983A>G (p.Met995Val) rs1794849768
NM_000245.4(MET):c.2987T>C (p.Val996Ala) rs1554398418
NM_000245.4(MET):c.298G>C (p.Asp100His) rs1554378400
NM_000245.4(MET):c.2992A>G (p.Asn998Asp)
NM_000245.4(MET):c.2995G>C (p.Glu999Gln) rs1404824650
NM_000245.4(MET):c.2996A>T (p.Glu999Val) rs912927724
NM_000245.4(MET):c.299A>G (p.Asp100Gly) rs1791473592
NM_000245.4(MET):c.29G>A (p.Gly10Asp) rs919828654
NM_000245.4(MET):c.3000T>C (p.Ser1000=)
NM_000245.4(MET):c.3001del (p.Ser1000_Val1001insTer)
NM_000245.4(MET):c.3003A>T (p.Val1001=)
NM_000245.4(MET):c.3005A>G (p.Asp1002Gly) rs1794850672
NM_000245.4(MET):c.3006C>T (p.Asp1002=) rs2116997464
NM_000245.4(MET):c.3008A>G (p.Tyr1003Cys)
NM_000245.4(MET):c.300C>T (p.Asp100=) rs2116585270
NM_000245.4(MET):c.3011G>A (p.Arg1004Gln)
NM_000245.4(MET):c.3013G>A (p.Ala1005Thr) rs2116997594
NM_000245.4(MET):c.3015T>C (p.Ala1005=) rs2116997626
NM_000245.4(MET):c.3017C>G (p.Thr1006Ser) rs1794851181
NM_000245.4(MET):c.3018T>G (p.Thr1006=)
NM_000245.4(MET):c.3023C>T (p.Pro1008Leu)
NM_000245.4(MET):c.3026A>C (p.Glu1009Ala)
NM_000245.4(MET):c.3028+10A>C rs763648816
NM_000245.4(MET):c.3028+10A>G rs763648816
NM_000245.4(MET):c.3028+11G>A rs369191825
NM_000245.4(MET):c.3028+15A>G
NM_000245.4(MET):c.3028+16T>C rs749086707
NM_000245.4(MET):c.3028+17T>G
NM_000245.4(MET):c.3028+3A>G
NM_000245.4(MET):c.3028+5A>G
NM_000245.4(MET):c.3028G>A (p.Asp1010Asn) rs1794851612
NM_000245.4(MET):c.3029-15T>C
NM_000245.4(MET):c.3029-16T>C rs2117029242
NM_000245.4(MET):c.3029-18T>C rs1794944566
NM_000245.4(MET):c.3029-1G>A rs2117029383
NM_000245.4(MET):c.3029-2A>G rs2117029370
NM_000245.4(MET):c.3029-5T>C rs2117029329
NM_000245.4(MET):c.3029A>C (p.Asp1010Ala) rs2117029391
NM_000245.4(MET):c.3031C>G (p.Gln1011Glu) rs1584957663
NM_000245.4(MET):c.3031del (p.Gln1011fs)
NM_000245.4(MET):c.3035T>C (p.Phe1012Ser) rs1794945602
NM_000245.4(MET):c.3038C>G (p.Pro1013Arg) rs1203610182
NM_000245.4(MET):c.303C>T (p.Cys101=)
NM_000245.4(MET):c.3041A>G (p.Asn1014Ser) rs2117029538
NM_000245.4(MET):c.3043T>G (p.Ser1015Ala) rs539345989
NM_000245.4(MET):c.3045A>G (p.Ser1015=)
NM_000245.4(MET):c.3048T>G (p.Ser1016=)
NM_000245.4(MET):c.3048_3049delinsAA (p.Gln1017Lys) rs2117029651
NM_000245.4(MET):c.3049C>G (p.Gln1017Glu) rs1794946568
NM_000245.4(MET):c.3050A>G (p.Gln1017Arg)
NM_000245.4(MET):c.3051G>A (p.Gln1017=)
NM_000245.4(MET):c.3053A>G (p.Asn1018Ser)
NM_000245.4(MET):c.3055G>A (p.Gly1019Ser) rs950642030
NM_000245.4(MET):c.3060A>C (p.Ser1020=) rs2117029833
NM_000245.4(MET):c.3060A>T (p.Ser1020=)
NM_000245.4(MET):c.3061T>C (p.Cys1021Arg) rs2117029846
NM_000245.4(MET):c.3064C>G (p.Arg1022Gly) rs1193441628
NM_000245.4(MET):c.3065G>T (p.Arg1022Leu) rs45612435
NM_000245.4(MET):c.3065_3067del (p.Arg1022del) rs2117029920
NM_000245.4(MET):c.3070G>A (p.Val1024Met) rs1584957724
NM_000245.4(MET):c.3071T>C (p.Val1024Ala) rs2117030004
NM_000245.4(MET):c.3071T>G (p.Val1024Gly)
NM_000245.4(MET):c.3074A>G (p.Gln1025Arg) rs1794947477
NM_000245.4(MET):c.3075G>A (p.Gln1025=)
NM_000245.4(MET):c.3079C>G (p.Pro1027Ala) rs373419003
NM_000245.4(MET):c.3083T>C (p.Leu1028Pro)
NM_000245.4(MET):c.3086C>T (p.Thr1029Ile)
NM_000245.4(MET):c.3087A>G (p.Thr1029=)
NM_000245.4(MET):c.3090C>T (p.Asp1030=) rs766136369
NM_000245.4(MET):c.3092T>C (p.Met1031Thr) rs1255185058
NM_000245.4(MET):c.3094T>A (p.Ser1032Thr) rs2117030307
NM_000245.4(MET):c.3097C>G (p.Pro1033Ala) rs1294910019
NM_000245.4(MET):c.3098C>G (p.Pro1033Arg)
NM_000245.4(MET):c.3099C>T (p.Pro1033=) rs754909964
NM_000245.4(MET):c.309C>T (p.Ser103=)
NM_000245.4(MET):c.30C>T (p.Gly10=)
NM_000245.4(MET):c.3100A>G (p.Ile1034Val) rs993773653
NM_000245.4(MET):c.3102C>A (p.Ile1034=)
NM_000245.4(MET):c.3106A>T (p.Thr1036Ser)
NM_000245.4(MET):c.3109A>G (p.Ser1037Gly) rs1794948966
NM_000245.4(MET):c.3112G>T (p.Gly1038Trp)
NM_000245.4(MET):c.3115G>A (p.Asp1039Asn) rs777748634
NM_000245.4(MET):c.3115G>C (p.Asp1039His)
NM_000245.4(MET):c.3115del (p.Asp1039fs)
NM_000245.4(MET):c.3116A>G (p.Asp1039Gly) rs1794949125
NM_000245.4(MET):c.3117C>A (p.Asp1039Glu) rs575907920
NM_000245.4(MET):c.3117C>G (p.Asp1039Glu) rs575907920
NM_000245.4(MET):c.3117C>T (p.Asp1039=)
NM_000245.4(MET):c.3126A>G (p.Ile1042Met) rs1237033724
NM_000245.4(MET):c.3127T>C (p.Ser1043Pro) rs2117030729
NM_000245.4(MET):c.3128C>A (p.Ser1043Tyr) rs1267419620
NM_000245.4(MET):c.312A>C (p.Lys104Asn) rs1554378412
NM_000245.4(MET):c.312A>T (p.Lys104Asn) rs1554378412
NM_000245.4(MET):c.3130A>T (p.Ser1044Cys) rs1357266763
NM_000245.4(MET):c.3131G>A (p.Ser1044Asn)
NM_000245.4(MET):c.3131_3143del (p.Ser1044fs)
NM_000245.4(MET):c.3132T>A (p.Ser1044Arg) rs746291237
NM_000245.4(MET):c.3135A>G (p.Pro1045=) rs1584957836
NM_000245.4(MET):c.3138A>G (p.Leu1046=)
NM_000245.4(MET):c.3140T>C (p.Leu1047Pro) rs1794950215
NM_000245.4(MET):c.3143A>G (p.Gln1048Arg)
NM_000245.4(MET):c.3148A>G (p.Thr1050Ala) rs1794950502
NM_000245.4(MET):c.3149C>A (p.Thr1050Asn) rs1179812872
NM_000245.4(MET):c.3149C>T (p.Thr1050Ile) rs1179812872
NM_000245.4(MET):c.3150T>A (p.Thr1050=)
NM_000245.4(MET):c.3150T>C (p.Thr1050=)
NM_000245.4(MET):c.3151G>A (p.Val1051Ile) rs775997318
NM_000245.4(MET):c.3151G>C (p.Val1051Leu)
NM_000245.4(MET):c.3151G>T (p.Val1051Phe)
NM_000245.4(MET):c.3156_3166del (p.His1052fs)
NM_000245.4(MET):c.3157A>G (p.Ile1053Val) rs1278254320
NM_000245.4(MET):c.3158T>C (p.Ile1053Thr)
NM_000245.4(MET):c.3160G>A (p.Asp1054Asn) rs2117031109
NM_000245.4(MET):c.3160G>T (p.Asp1054Tyr)
NM_000245.4(MET):c.3161A>T (p.Asp1054Val) rs2117031126
NM_000245.4(MET):c.3162C>A (p.Asp1054Glu)
NM_000245.4(MET):c.3162C>T (p.Asp1054=) rs1166344170
NM_000245.4(MET):c.3163C>A (p.Leu1055Ile) rs1060503534
NM_000245.4(MET):c.3163C>G (p.Leu1055Val) rs1060503534
NM_000245.4(MET):c.3166A>G (p.Ser1056Gly)
NM_000245.4(MET):c.3167G>A (p.Ser1056Asn)
NM_000245.4(MET):c.3175A>C (p.Asn1059His) rs1794951633
NM_000245.4(MET):c.3181G>A (p.Glu1061Lys) rs2117031426
NM_000245.4(MET):c.3181G>C (p.Glu1061Gln) rs2117031426
NM_000245.4(MET):c.3183G>A (p.Glu1061=) rs1554398889
NM_000245.4(MET):c.3183G>C (p.Glu1061Asp) rs1554398889
NM_000245.4(MET):c.3184C>T (p.Leu1062=)
NM_000245.4(MET):c.3186G>A (p.Leu1062=) rs1584957891
NM_000245.4(MET):c.318T>C (p.Asn106=)
NM_000245.4(MET):c.3192G>A (p.Gln1064=)
NM_000245.4(MET):c.3194C>T (p.Ala1065Val) rs2117031577
NM_000245.4(MET):c.3197T>A (p.Val1066Glu) rs2117031615
NM_000245.4(MET):c.3198G>A (p.Val1066=) rs1162352573
NM_000245.4(MET):c.3199C>G (p.Gln1067Glu) rs45628136
NM_000245.4(MET):c.31A>G (p.Ile11Val) rs1584875601
NM_000245.4(MET):c.3200A>T (p.Gln1067Leu) rs1554398900
NM_000245.4(MET):c.3201G>A (p.Gln1067=) rs1447318689
NM_000245.4(MET):c.3202C>T (p.His1068Tyr) rs1330566980
NM_000245.4(MET):c.3203A>C (p.His1068Pro) rs767587065
NM_000245.4(MET):c.3203A>G (p.His1068Arg)
NM_000245.4(MET):c.3204T>A (p.His1068Gln) rs1397743069
NM_000245.4(MET):c.3204T>G (p.His1068Gln) rs1397743069
NM_000245.4(MET):c.3206T>C (p.Val1069Ala) rs1794953455
NM_000245.4(MET):c.3208G>T (p.Val1070Leu) rs760285693
NM_000245.4(MET):c.3214G>A (p.Gly1072Arg)
NM_000245.4(MET):c.3215G>A (p.Gly1072Glu) rs1584957937
NM_000245.4(MET):c.3215G>C (p.Gly1072Ala)
NM_000245.4(MET):c.3216G>T (p.Gly1072=) rs2117031874
NM_000245.4(MET):c.3217C>A (p.Pro1073Thr)
NM_000245.4(MET):c.3219C>T (p.Pro1073=) rs1794954190
NM_000245.4(MET):c.321A>G (p.Leu107=) rs1040920548
NM_000245.4(MET):c.321A>T (p.Leu107Phe) rs1040920548
NM_000245.4(MET):c.3222T>C (p.Ser1074=) rs2117031958
NM_000245.4(MET):c.3230T>A (p.Ile1077Asn)
NM_000245.4(MET):c.3231T>G (p.Ile1077Met) rs1251215478
NM_000245.4(MET):c.3233T>C (p.Val1078Ala)
NM_000245.4(MET):c.3234G>A (p.Val1078=)
NM_000245.4(MET):c.3236A>C (p.His1079Pro) rs758292223
NM_000245.4(MET):c.3240C>T (p.Phe1080=)
NM_000245.4(MET):c.3244G>A (p.Glu1082Lys)
NM_000245.4(MET):c.3245A>T (p.Glu1082Val)
NM_000245.4(MET):c.3246A>T (p.Glu1082Asp) rs1794955289
NM_000245.4(MET):c.3247G>A (p.Val1083Ile) rs1794955378
NM_000245.4(MET):c.324A>G (p.Ser108=)
NM_000245.4(MET):c.3254G>A (p.Gly1085Glu) rs1562931818
NM_000245.4(MET):c.3254G>C (p.Gly1085Ala)
NM_000245.4(MET):c.3257G>A (p.Arg1086Lys) rs2117032447
NM_000245.4(MET):c.3259+10T>C rs2117032551
NM_000245.4(MET):c.3259+4A>G
NM_000245.4(MET):c.3259+5G>A rs1794955894
NM_000245.4(MET):c.3259+9T>C rs1794955980
NM_000245.4(MET):c.3260-11C>A rs1795027494
NM_000245.4(MET):c.3260-12del
NM_000245.4(MET):c.3260-24_3260-14del rs760284924
NM_000245.4(MET):c.3260-4A>C rs864622521
NM_000245.4(MET):c.3263A>G (p.His1088Arg) rs786204102
NM_000245.4(MET):c.3268G>T (p.Gly1090Cys)
NM_000245.4(MET):c.3271T>C (p.Cys1091Arg) rs751556706
NM_000245.4(MET):c.3274G>T (p.Val1092Leu)
NM_000245.4(MET):c.3279T>C (p.Tyr1093=)
NM_000245.4(MET):c.3280C>T (p.His1094Tyr) rs121913244
NM_000245.4(MET):c.3282T>G (p.His1094Gln) rs1185332869
NM_000245.4(MET):c.3284G>A (p.Gly1095Glu) rs1795029105
NM_000245.4(MET):c.3284G>C (p.Gly1095Ala) rs1795029105
NM_000245.4(MET):c.3287C>G (p.Thr1096Ser) rs45592846
NM_000245.4(MET):c.3287C>T (p.Thr1096Ile) rs45592846
NM_000245.4(MET):c.328G>A (p.Gly110Ser)
NM_000245.4(MET):c.3291G>T (p.Leu1097Phe) rs2117039952
NM_000245.4(MET):c.3294G>A (p.Leu1098=) rs2117039979
NM_000245.4(MET):c.3295G>A (p.Asp1099Asn)
NM_000245.4(MET):c.3298A>T (p.Asn1100Tyr) rs1057520030
NM_000245.4(MET):c.3299A>G (p.Asn1100Ser) rs1795029901
NM_000245.4(MET):c.3300T>C (p.Asn1100=) rs1554399341
NM_000245.4(MET):c.3301G>A (p.Asp1101Asn) rs749678495
NM_000245.4(MET):c.3302A>G (p.Asp1101Gly)
NM_000245.4(MET):c.3303T>C (p.Asp1101=)
NM_000245.4(MET):c.3304G>A (p.Gly1102Ser)
NM_000245.4(MET):c.3305G>A (p.Gly1102Asp) rs1060503533
NM_000245.4(MET):c.3306C>A (p.Gly1102=) rs2117040150
NM_000245.4(MET):c.3309G>A (p.Lys1103=) rs2117040173
NM_000245.4(MET):c.330T>C (p.Gly110=)
NM_000245.4(MET):c.3312A>C (p.Lys1104Asn)
NM_000245.4(MET):c.3312A>G (p.Lys1104=) rs1584959967
NM_000245.4(MET):c.3313A>G (p.Ile1105Val) rs2117040207
NM_000245.4(MET):c.3314T>G (p.Ile1105Ser)
NM_000245.4(MET):c.3316C>T (p.His1106Tyr) rs1795030662
NM_000245.4(MET):c.3321T>C (p.Cys1107=) rs1584959989
NM_000245.4(MET):c.3324T>C (p.Ala1108=)
NM_000245.4(MET):c.3325G>A (p.Val1109Met)
NM_000245.4(MET):c.3326T>A (p.Val1109Glu)
NM_000245.4(MET):c.3327G>A (p.Val1109=) rs2117040350
NM_000245.4(MET):c.3332C>G (p.Ser1111Cys) rs1584960002
NM_000245.4(MET):c.3336G>A (p.Leu1112=) rs1488332998
NM_000245.4(MET):c.3338A>T (p.Asn1113Ile) rs2117040446
NM_000245.4(MET):c.3339C>G (p.Asn1113Lys) rs1214629015
NM_000245.4(MET):c.3339C>T (p.Asn1113=) rs1214629015
NM_000245.4(MET):c.3340+13T>G
NM_000245.4(MET):c.3340+15A>G
NM_000245.4(MET):c.3340+16T>G
NM_000245.4(MET):c.3340+2dup rs1554399352
NM_000245.4(MET):c.3340+5G>A
NM_000245.4(MET):c.3340+5del
NM_000245.4(MET):c.3340+6T>A
NM_000245.4(MET):c.3340+6T>C rs1240062915
NM_000245.4(MET):c.3340+7G>A rs2117040526
NM_000245.4(MET):c.3340+8G>A rs541156628
NM_000245.4(MET):c.3341-10G>A rs1281663962
NM_000245.4(MET):c.3341-10G>T rs1281663962
NM_000245.4(MET):c.3341-11G>A
NM_000245.4(MET):c.3341-14A>C
NM_000245.4(MET):c.3341-15C>G
NM_000245.4(MET):c.3341-18C>T rs959432467
NM_000245.4(MET):c.3341-19C>G
NM_000245.4(MET):c.3341-8T>C rs1323109627
NM_000245.4(MET):c.3343A>C (p.Ile1115Leu) rs2117044727
NM_000245.4(MET):c.3344T>C (p.Ile1115Thr) rs1795065701
NM_000245.4(MET):c.3345C>T (p.Ile1115=) rs1554399534
NM_000245.4(MET):c.3346A>G (p.Thr1116Ala) rs2117044784
NM_000245.4(MET):c.3348T>G (p.Thr1116=) rs2117044816
NM_000245.4(MET):c.3352A>G (p.Ile1118Val) rs755234697
NM_000245.4(MET):c.3353T>C (p.Ile1118Thr) rs1795065976
NM_000245.4(MET):c.3354A>C (p.Ile1118=)
NM_000245.4(MET):c.3356_3358del (p.Gly1119del) rs1584961122
NM_000245.4(MET):c.3362T>C (p.Val1121Ala)
NM_000245.4(MET):c.3365C>A (p.Ser1122Tyr)
NM_000245.4(MET):c.3367C>T (p.Gln1123Ter)
NM_000245.4(MET):c.3368A>G (p.Gln1123Arg) rs2117045243
NM_000245.4(MET):c.3369A>G (p.Gln1123=)
NM_000245.4(MET):c.3372T>C (p.Phe1124=) rs2117045349
NM_000245.4(MET):c.3377C>G (p.Thr1126Ser)
NM_000245.4(MET):c.3379G>A (p.Glu1127Lys) rs1158021755
NM_000245.4(MET):c.3381G>A (p.Glu1127=)
NM_000245.4(MET):c.3382G>A (p.Gly1128Arg)
NM_000245.4(MET):c.3384A>G (p.Gly1128=)
NM_000245.4(MET):c.3387C>A (p.Ile1129=)
NM_000245.4(MET):c.3387C>T (p.Ile1129=)
NM_000245.4(MET):c.3392T>C (p.Met1131Thr) rs121913668
NM_000245.4(MET):c.3397G>A (p.Asp1133Asn) rs745437003
NM_000245.4(MET):c.3397G>T (p.Asp1133Tyr) rs745437003
NM_000245.4(MET):c.3399T>C (p.Asp1133=) rs2117046045
NM_000245.4(MET):c.339A>G (p.Lys113=) rs2116586309
NM_000245.4(MET):c.3400T>A (p.Phe1134Ile)
NM_000245.4(MET):c.3404G>A (p.Ser1135Asn) rs1795069423
NM_000245.4(MET):c.3405T>G (p.Ser1135Arg) rs1554399556
NM_000245.4(MET):c.3408T>C (p.His1136=) rs202110450
NM_000245.4(MET):c.3409C>A (p.Pro1137Thr)
NM_000245.4(MET):c.340G>A (p.Asp114Asn) rs2116586335
NM_000245.4(MET):c.340G>T (p.Asp114Tyr) rs2116586335
NM_000245.4(MET):c.3410C>T (p.Pro1137Leu) rs2117046293
NM_000245.4(MET):c.3411C>T (p.Pro1137=)
NM_000245.4(MET):c.3413A>T (p.Asn1138Ile) rs2117046370
NM_000245.4(MET):c.3414T>C (p.Asn1138=) rs769474791
NM_000245.4(MET):c.3415G>A (p.Val1139Ile) rs1795069790
NM_000245.4(MET):c.3415G>T (p.Val1139Phe)
NM_000245.4(MET):c.3417C>G (p.Val1139=) rs2117046480
NM_000245.4(MET):c.3418C>T (p.Leu1140Phe) rs1333930330
NM_000245.4(MET):c.3420C>T (p.Leu1140=)
NM_000245.4(MET):c.3428T>A (p.Leu1143Gln) rs1795070394
NM_000245.4(MET):c.3432A>G (p.Gly1144=)
NM_000245.4(MET):c.3437G>A (p.Cys1146Tyr) rs1795070664
NM_000245.4(MET):c.3439C>G (p.Leu1147Val)
NM_000245.4(MET):c.3439C>T (p.Leu1147=) rs1795070786
NM_000245.4(MET):c.343A>G (p.Asn115Asp)
NM_000245.4(MET):c.3441G>C (p.Leu1147=) rs200456335
NM_000245.4(MET):c.3442C>T (p.Arg1148Ter) rs879254336
NM_000245.4(MET):c.3443del (p.Arg1148fs)
NM_000245.4(MET):c.3446G>A (p.Ser1149Asn) rs1795071435
NM_000245.4(MET):c.3446G>C (p.Ser1149Thr) rs1795071435
NM_000245.4(MET):c.3453G>T (p.Gly1151=)
NM_000245.4(MET):c.3458C>T (p.Pro1153Leu) rs1795071897
NM_000245.4(MET):c.3459G>T (p.Pro1153=)
NM_000245.4(MET):c.345C>G (p.Asn115Lys)
NM_000245.4(MET):c.3462G>C (p.Leu1154=)
NM_000245.4(MET):c.3467T>C (p.Val1156Ala) rs2117047452
NM_000245.4(MET):c.3468C>T (p.Val1156=) rs2117047472
NM_000245.4(MET):c.346A>G (p.Ile116Val) rs1554378434
NM_000245.4(MET):c.3471A>C (p.Leu1157=)
NM_000245.4(MET):c.3475T>C (p.Tyr1159His) rs2117047603
NM_000245.4(MET):c.3478A>G (p.Met1160Val) rs1554399597
NM_000245.4(MET):c.347T>A (p.Ile116Asn)
NM_000245.4(MET):c.3486T>C (p.His1162=) rs765565377
NM_000245.4(MET):c.3488G>A (p.Gly1163Glu) rs879254338
NM_000245.4(MET):c.348C>G (p.Ile116Met) rs2116586543
NM_000245.4(MET):c.3493C>G (p.Leu1165Val)
NM_000245.4(MET):c.3496C>T (p.Arg1166Ter) rs1795073205
NM_000245.4(MET):c.3500A>G (p.Asn1167Ser)
NM_000245.4(MET):c.3501T>C (p.Asn1167=)
NM_000245.4(MET):c.3503T>C (p.Phe1168Ser)
NM_000245.4(MET):c.3504C>T (p.Phe1168=) rs2117048132
NM_000245.4(MET):c.3505A>C (p.Ile1169Leu)
NM_000245.4(MET):c.3505A>G (p.Ile1169Val) rs752109953
NM_000245.4(MET):c.3508C>A (p.Arg1170=) rs200754673
NM_000245.4(MET):c.3508C>G (p.Arg1170Gly) rs200754673
NM_000245.4(MET):c.3509G>C (p.Arg1170Pro) rs369838973
NM_000245.4(MET):c.3509G>T (p.Arg1170Leu) rs369838973
NM_000245.4(MET):c.350A>G (p.Asn117Ser)
NM_000245.4(MET):c.3513T>G (p.Asn1171Lys)
NM_000245.4(MET):c.3516G>A (p.Glu1172=)
NM_000245.4(MET):c.3518C>G (p.Thr1173Ser) rs121913675
NM_000245.4(MET):c.3518C>T (p.Thr1173Ile) rs121913675
NM_000245.4(MET):c.3520C>T (p.His1174Tyr) rs1795074297
NM_000245.4(MET):c.3522+10C>T
NM_000245.4(MET):c.3522+11T>C rs201726372
NM_000245.4(MET):c.3522+14C>G
NM_000245.4(MET):c.3522+18C>T
NM_000245.4(MET):c.3522+19T>C
NM_000245.4(MET):c.3522+8G>A
NM_000245.4(MET):c.3522+8G>C
NM_000245.4(MET):c.3522+9A>G
NM_000245.4(MET):c.3523-10T>C rs2117059286
NM_000245.4(MET):c.3523-12C>T
NM_000245.4(MET):c.3523-14C>T
NM_000245.4(MET):c.3523-16CT[2]
NM_000245.4(MET):c.3523-19T>C
NM_000245.4(MET):c.3523-3C>T rs763246917
NM_000245.4(MET):c.3523-4G>A
NM_000245.4(MET):c.3523-6C>T rs1554400069
NM_000245.4(MET):c.3523A>C (p.Asn1175His)
NM_000245.4(MET):c.3524A>C (p.Asn1175Thr) rs1554400071
NM_000245.4(MET):c.3524A>G (p.Asn1175Ser)
NM_000245.4(MET):c.3529A>G (p.Thr1177Ala)
NM_000245.4(MET):c.352A>G (p.Met118Val) rs1060503538
NM_000245.4(MET):c.3531T>G (p.Thr1177=) rs1584964218
NM_000245.4(MET):c.3532G>A (p.Val1178Ile) rs1584964221
NM_000245.4(MET):c.3534A>T (p.Val1178=) rs544545520
NM_000245.4(MET):c.3538G>T (p.Asp1180Tyr)
NM_000245.4(MET):c.353T>C (p.Met118Thr)
NM_000245.4(MET):c.353T>G (p.Met118Arg) rs2116586678
NM_000245.4(MET):c.3544A>G (p.Ile1182Val) rs1795171767
NM_000245.4(MET):c.3545T>C (p.Ile1182Thr) rs1795171887
NM_000245.4(MET):c.3547G>A (p.Gly1183Ser)
NM_000245.4(MET):c.3548G>A (p.Gly1183Asp)
NM_000245.4(MET):c.354G>A (p.Met118Ile) rs1562883374
NM_000245.4(MET):c.3552T>C (p.Phe1184=) rs765771575
NM_000245.4(MET):c.3554G>A (p.Gly1185Asp)
NM_000245.4(MET):c.3555T>C (p.Gly1185=) rs2117059754
NM_000245.4(MET):c.3561A>T (p.Gln1187His)
NM_000245.4(MET):c.3562G>A (p.Val1188Ile) rs121913669
NM_000245.4(MET):c.3562G>T (p.Val1188Leu) rs121913669
NM_000245.4(MET):c.3563_3564del (p.Val1188fs) rs1562935204
NM_000245.4(MET):c.3565G>A (p.Ala1189Thr) rs1348453406
NM_000245.4(MET):c.3568A>G (p.Lys1190Glu)
NM_000245.4(MET):c.3573C>T (p.Gly1191=)
NM_000245.4(MET):c.3576G>C (p.Met1192Ile)
NM_000245.4(MET):c.3578A>G (p.Lys1193Arg)
NM_000245.4(MET):c.3582T>C (p.Tyr1194=) rs1584964312
NM_000245.4(MET):c.3583C>G (p.Leu1195Val) rs121913673
NM_000245.4(MET):c.3583C>T (p.Leu1195Phe) rs121913673
NM_000245.4(MET):c.3584T>A (p.Leu1195His)
NM_000245.4(MET):c.3588A>G (p.Ala1196=)
NM_000245.4(MET):c.3589A>G (p.Ser1197Gly)
NM_000245.4(MET):c.3589A>T (p.Ser1197Cys) rs2117060265
NM_000245.4(MET):c.358C>G (p.Leu120Val)
NM_000245.4(MET):c.3592A>G (p.Lys1198Glu) rs2117060312
NM_000245.4(MET):c.3596A>G (p.Lys1199Arg) rs2117060357
NM_000245.4(MET):c.3598T>C (p.Phe1200Leu) rs1554400099
NM_000245.4(MET):c.3601G>A (p.Val1201Ile) rs778646229
NM_000245.4(MET):c.3603C>A (p.Val1201=) rs1484737027
NM_000245.4(MET):c.360A>G (p.Leu120=)
NM_000245.4(MET):c.3612C>G (p.Asp1204Glu)
NM_000245.4(MET):c.3616G>A (p.Ala1206Thr) rs2117060579
NM_000245.4(MET):c.3616G>T (p.Ala1206Ser)
NM_000245.4(MET):c.361G>A (p.Val121Ile)
NM_000245.4(MET):c.3621A>G (p.Ala1207=) rs747811080
NM_000245.4(MET):c.3632+10A>C
NM_000245.4(MET):c.3632+17C>G rs758230781
NM_000245.4(MET):c.3632+17C>T rs758230781
NM_000245.4(MET):c.3632+20T>A rs2117060902
NM_000245.4(MET):c.3632+7A>C rs1795175584
NM_000245.4(MET):c.3632+9C>G rs1584964366
NM_000245.4(MET):c.3633-11C>A
NM_000245.4(MET):c.3633-13G>A
NM_000245.4(MET):c.3633-18T>C
NM_000245.4(MET):c.3633-2A>G rs879254337
NM_000245.4(MET):c.3633-4G>A rs1477354447
NM_000245.4(MET):c.3634C>A (p.Leu1212Met)
NM_000245.4(MET):c.3636G>A (p.Leu1212=)
NM_000245.4(MET):c.3636G>T (p.Leu1212=)
NM_000245.4(MET):c.3640G>A (p.Glu1214Lys) rs1261418076
NM_000245.4(MET):c.3648C>A (p.Phe1216Leu) rs1584965464
NM_000245.4(MET):c.364G>A (p.Val122Ile) rs2116586974
NM_000245.4(MET):c.3651A>C (p.Thr1217=)
NM_000245.4(MET):c.3651A>G (p.Thr1217=)
NM_000245.4(MET):c.3653T>C (p.Val1218Ala) rs1191381216
NM_000245.4(MET):c.3656A>G (p.Lys1219Arg)
NM_000245.4(MET):c.3657G>C (p.Lys1219Asn) rs1795207276
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) rs121913670
NM_000245.4(MET):c.365T>C (p.Val122Ala)
NM_000245.4(MET):c.3661_3662delinsAT (p.Ala1221Ile)
NM_000245.4(MET):c.3678C>T (p.Ala1226=) rs1584965488
NM_000245.4(MET):c.3679A>G (p.Arg1227Gly) rs2117065927
NM_000245.4(MET):c.367G>A (p.Asp123Asn) rs760106468
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn) rs121913671
NM_000245.4(MET):c.3682G>C (p.Asp1228His) rs121913671
NM_000245.4(MET):c.3682G>T (p.Asp1228Tyr)
NM_000245.4(MET):c.3687G>A (p.Met1229Ile)
NM_000245.4(MET):c.3688T>C (p.Tyr1230His) rs121913247
NM_000245.4(MET):c.3688T>G (p.Tyr1230Asp) rs121913247
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) rs121913246
NM_000245.4(MET):c.368A>T (p.Asp123Val)
NM_000245.4(MET):c.3690T>C (p.Tyr1230=) rs1584965524
NM_000245.4(MET):c.3691G>A (p.Asp1231Asn) rs1168862161
NM_000245.4(MET):c.369C>T (p.Asp123=) rs1417054613
NM_000245.4(MET):c.36C>A (p.Leu12=) rs188625702
NM_000245.4(MET):c.3703T>G (p.Tyr1235Asp) rs1057519824
NM_000245.4(MET):c.3704A>G (p.Tyr1235Cys)
NM_000245.4(MET):c.3709G>A (p.Val1237Ile) rs1031263507
NM_000245.4(MET):c.3709G>T (p.Val1237Leu)
NM_000245.4(MET):c.3713A>T (p.His1238Leu) rs1562935856
NM_000245.4(MET):c.3714C>G (p.His1238Gln)
NM_000245.4(MET):c.3717C>A (p.Asn1239Lys) rs2117066535
NM_000245.4(MET):c.3719A>G (p.Lys1240Arg)
NM_000245.4(MET):c.371C>A (p.Thr124Asn)
NM_000245.4(MET):c.371C>T (p.Thr124Ile) rs1791477416
NM_000245.4(MET):c.3725G>T (p.Gly1242Val) rs776086430
NM_000245.4(MET):c.3726T>A (p.Gly1242=) rs2117066669
NM_000245.4(MET):c.3726T>C (p.Gly1242=) rs2117066669
NM_000245.4(MET):c.372C>G (p.Thr124=) rs574911056
NM_000245.4(MET):c.372C>T (p.Thr124=)
NM_000245.4(MET):c.3731A>C (p.Lys1244Thr) rs121913677
NM_000245.4(MET):c.3731A>G (p.Lys1244Arg) rs121913677
NM_000245.4(MET):c.3739G>A (p.Val1247Met) rs1562935903
NM_000245.4(MET):c.373T>A (p.Tyr125Asn)
NM_000245.4(MET):c.3741G>C (p.Val1247=) rs1584965646
NM_000245.4(MET):c.3744G>A (p.Lys1248=) rs2117066950
NM_000245.4(MET):c.3748A>T (p.Met1250Leu)
NM_000245.4(MET):c.3749T>C (p.Met1250Thr) rs121913245
NM_000245.4(MET):c.374A>G (p.Tyr125Cys)
NM_000245.4(MET):c.3750G>A (p.Met1250Ile) rs121913676
NM_000245.4(MET):c.3757G>A (p.Glu1253Lys)
NM_000245.4(MET):c.3760A>C (p.Ser1254Arg)
NM_000245.4(MET):c.3765G>A (p.Leu1255=) rs1584965685
NM_000245.4(MET):c.3765G>C (p.Leu1255=) rs1584965685
NM_000245.4(MET):c.3767A>G (p.Gln1256Arg)
NM_000245.4(MET):c.376T>C (p.Tyr126His)
NM_000245.4(MET):c.3772C>T (p.Gln1258Ter) rs1795213262
NM_000245.4(MET):c.3778T>C (p.Phe1260Leu)
NM_000245.4(MET):c.3781A>T (p.Thr1261Ser)
NM_000245.4(MET):c.3783C>G (p.Thr1261=)
NM_000245.4(MET):c.3784A>G (p.Thr1262Ala)
NM_000245.4(MET):c.3789G>A (p.Lys1263=)
NM_000245.4(MET):c.378T>C (p.Tyr126=) rs2116587316
NM_000245.4(MET):c.3790T>A (p.Ser1264Thr)
NM_000245.4(MET):c.3790T>C (p.Ser1264Pro) rs1795214265
NM_000245.4(MET):c.3794A>T (p.Asp1265Val) rs2117067679
NM_000245.4(MET):c.3795T>C (p.Asp1265=) rs2117067697
NM_000245.4(MET):c.3797T>A (p.Val1266Glu) rs2117067730
NM_000245.4(MET):c.3798+11G>A
NM_000245.4(MET):c.3798+12G>A
NM_000245.4(MET):c.3798+12G>C rs1001362196
NM_000245.4(MET):c.3798+15A>T rs769814035
NM_000245.4(MET):c.3798+1G>A rs1795214615
NM_000245.4(MET):c.3798+6G>A rs2117067806
NM_000245.4(MET):c.3798+9T>C
NM_000245.4(MET):c.3799-11del
NM_000245.4(MET):c.3799-12T>C
NM_000245.4(MET):c.3799-15T>G rs1297603367
NM_000245.4(MET):c.3799-17G>A
NM_000245.4(MET):c.3799-17G>C
NM_000245.4(MET):c.3799-18del
NM_000245.4(MET):c.3799-19C>G
NM_000245.4(MET):c.3799-19C>T
NM_000245.4(MET):c.3799-3T>A rs1584977801
NM_000245.4(MET):c.3799-4C>T rs2117107162
NM_000245.4(MET):c.3799-8T>C
NM_000245.4(MET):c.379G>A (p.Asp127Asn)
NM_000245.4(MET):c.379G>C (p.Asp127His) rs1584876615
NM_000245.4(MET):c.37G>C (p.Val13Leu)
NM_000245.4(MET):c.37G>T (p.Val13Leu)
NM_000245.4(MET):c.3807T>C (p.Phe1269=) rs1554402156
NM_000245.4(MET):c.3808G>A (p.Gly1270Ser) rs727504014
NM_000245.4(MET):c.3810C>G (p.Gly1270=) rs200865810
NM_000245.4(MET):c.3812T>A (p.Val1271Glu)
NM_000245.4(MET):c.3816C>A (p.Leu1272=) rs757012119
NM_000245.4(MET):c.3816C>T (p.Leu1272=)
NM_000245.4(MET):c.3817del (p.Leu1273fs)
NM_000245.4(MET):c.3819C>G (p.Leu1273=)
NM_000245.4(MET):c.3819C>T (p.Leu1273=)
NM_000245.4(MET):c.381T>A (p.Asp127Glu) rs2116587402
NM_000245.4(MET):c.3821G>A (p.Trp1274Ter)
NM_000245.4(MET):c.3828G>A (p.Leu1276=)
NM_000245.4(MET):c.382G>A (p.Asp128Asn)
NM_000245.4(MET):c.3834A>C (p.Thr1278=) rs1584977880
NM_000245.4(MET):c.3837A>G (p.Arg1279=)
NM_000245.4(MET):c.3838G>A (p.Gly1280Arg)
NM_000245.4(MET):c.383A>G (p.Asp128Gly) rs1554378477
NM_000245.4(MET):c.3841G>A (p.Ala1281Thr)
NM_000245.4(MET):c.3842C>T (p.Ala1281Val) rs750337451
NM_000245.4(MET):c.3844C>T (p.Pro1282Ser)
NM_000245.4(MET):c.3846A>T (p.Pro1282=)
NM_000245.4(MET):c.3848dup (p.Tyr1284fs)
NM_000245.4(MET):c.3853C>A (p.Pro1285Thr)
NM_000245.4(MET):c.3855T>C (p.Pro1285=) rs1584977903
NM_000245.4(MET):c.3858C>G (p.Asp1286Glu)
NM_000245.4(MET):c.3860T>G (p.Val1287Gly)
NM_000245.4(MET):c.3861A>G (p.Val1287=) rs749438942
NM_000245.4(MET):c.3865A>T (p.Thr1289Ser) rs1584977945
NM_000245.4(MET):c.3867C>T (p.Thr1289=) rs587780532
NM_000245.4(MET):c.386A>C (p.Gln129Pro) rs1791478036
NM_000245.4(MET):c.3870T>C (p.Phe1290=) rs926365001
NM_000245.4(MET):c.3871G>C (p.Asp1291His)
NM_000245.4(MET):c.3871G>T (p.Asp1291Tyr)
NM_000245.4(MET):c.3874A>G (p.Ile1292Val)
NM_000245.4(MET):c.3876A>G (p.Ile1292Met) rs786204044
NM_000245.4(MET):c.3879T>A (p.Thr1293=) rs1554402170
NM_000245.4(MET):c.387A>G (p.Gln129=) rs1791478119
NM_000245.4(MET):c.387A>T (p.Gln129His) rs1791478119
NM_000245.4(MET):c.3885C>T (p.Tyr1295=) rs1795648934
NM_000245.4(MET):c.3889T>C (p.Leu1297=) rs1584977995
NM_000245.4(MET):c.388C>T (p.Leu130Phe) rs1584876640
NM_000245.4(MET):c.3891G>A (p.Leu1297=) rs1584977997
NM_000245.4(MET):c.3895G>C (p.Gly1299Arg)
NM_000245.4(MET):c.3897G>T (p.Gly1299=) rs2117108701
NM_000245.4(MET):c.38T>C (p.Val13Ala)
NM_000245.4(MET):c.3905T>C (p.Leu1302Pro) rs2117108825
NM_000245.4(MET):c.3906C>T (p.Leu1302=) rs1584978021
NM_000245.4(MET):c.3912A>G (p.Gln1304=)
NM_000245.4(MET):c.3915C>T (p.Pro1305=) rs555099334
NM_000245.4(MET):c.3921C>T (p.Tyr1307=) rs2117109060
NM_000245.4(MET):c.3929A>G (p.Asp1310Gly)
NM_000245.4(MET):c.3929A>T (p.Asp1310Val) rs1390590380
NM_000245.4(MET):c.3930C>A (p.Asp1310Glu) rs773763852
NM_000245.4(MET):c.3930C>T (p.Asp1310=) rs773763852
NM_000245.4(MET):c.3933C>A (p.Pro1311=)
NM_000245.4(MET):c.3935+14C>G rs1215580408
NM_000245.4(MET):c.3935+18A>T
NM_000245.4(MET):c.3935+20C>G
NM_000245.4(MET):c.3935+2T>A rs1562941469
NM_000245.4(MET):c.3935+3A>G rs1554402183
NM_000245.4(MET):c.3935+5G>A
NM_000245.4(MET):c.3935+7_3935+8insCCT
NM_000245.4(MET):c.3935+8G>A rs2117109392
NM_000245.4(MET):c.3936-11T>G
NM_000245.4(MET):c.3936-13C>G
NM_000245.4(MET):c.3936-13_3936-10del rs745366999
NM_000245.4(MET):c.3936-17C>G rs2117110177
NM_000245.4(MET):c.3936-18T>C
NM_000245.4(MET):c.3936-20T>A rs2117110129
NM_000245.4(MET):c.3936-2A>G rs1795654625
NM_000245.4(MET):c.3936-8T>G rs1274027255
NM_000245.4(MET):c.3936A>T (p.Leu1312Phe)
NM_000245.4(MET):c.393T>A (p.Ile131=) rs1584876662
NM_000245.4(MET):c.3940G>A (p.Glu1314Lys) rs1395763398
NM_000245.4(MET):c.3943G>A (p.Val1315Ile)
NM_000245.4(MET):c.3945A>T (p.Val1315=) rs879254340
NM_000245.4(MET):c.395G>A (p.Ser132Asn) rs1791478666
NM_000245.4(MET):c.395G>T (p.Ser132Ile) rs1791478666
NM_000245.4(MET):c.3961C>T (p.His1321Tyr) rs1795655626
NM_000245.4(MET):c.3963C>T (p.His1321=)
NM_000245.4(MET):c.3964C>G (p.Pro1322Ala) rs368312290
NM_000245.4(MET):c.3964C>T (p.Pro1322Ser) rs368312290
NM_000245.4(MET):c.3967A>G (p.Lys1323Glu) rs1584978266
NM_000245.4(MET):c.3968A>G (p.Lys1323Arg)
NM_000245.4(MET):c.3972C>G (p.Ala1324=)
NM_000245.4(MET):c.3978G>A (p.Met1326Ile) rs1795656686
NM_000245.4(MET):c.3978G>C (p.Met1326Ile) rs1795656686
NM_000245.4(MET):c.3979C>T (p.Arg1327Cys) rs2117111027
NM_000245.4(MET):c.3981C>A (p.Arg1327=)
NM_000245.4(MET):c.3983C>T (p.Pro1328Leu) rs755043272
NM_000245.4(MET):c.3984A>G (p.Pro1328=)
NM_000245.4(MET):c.3985T>A (p.Ser1329Thr) rs2117111134
NM_000245.4(MET):c.3986C>G (p.Ser1329Cys) rs1398543726
NM_000245.4(MET):c.3986C>T (p.Ser1329Phe) rs1398543726
NM_000245.4(MET):c.3987C>T (p.Ser1329=) rs2117111166
NM_000245.4(MET):c.3989T>C (p.Phe1330Ser)
NM_000245.4(MET):c.3991T>C (p.Ser1331Pro) rs1562941559
NM_000245.4(MET):c.3991T>G (p.Ser1331Ala) rs1562941559
NM_000245.4(MET):c.3993T>C (p.Ser1331=) rs2117111260
NM_000245.4(MET):c.3994G>C (p.Glu1332Gln) rs748382550
NM_000245.4(MET):c.3998T>G (p.Leu1333Arg)
NM_000245.4(MET):c.3999G>A (p.Leu1333=)
NM_000245.4(MET):c.4000G>T (p.Val1334Leu) rs1795657629
NM_000245.4(MET):c.4002G>T (p.Val1334=) rs1214651018
NM_000245.4(MET):c.4006C>T (p.Arg1336Trp) rs1258671501
NM_000245.4(MET):c.4008G>T (p.Arg1336=) rs373857586
NM_000245.4(MET):c.4009A>G (p.Ile1337Val)
NM_000245.4(MET):c.4009A>T (p.Ile1337Leu)
NM_000245.4(MET):c.4015G>A (p.Ala1339Thr)
NM_000245.4(MET):c.4015G>C (p.Ala1339Pro) rs1795658722
NM_000245.4(MET):c.4017G>C (p.Ala1339=) rs2023748
NM_000245.4(MET):c.401G>A (p.Gly134Asp) rs2116587889
NM_000245.4(MET):c.4023C>T (p.Phe1341=) rs2117111707
NM_000245.4(MET):c.4025C>G (p.Ser1342Cys) rs2117111729
NM_000245.4(MET):c.4027A>G (p.Thr1343Ala)
NM_000245.4(MET):c.4032C>T (p.Phe1344=)
NM_000245.4(MET):c.4035T>C (p.Ile1345=)
NM_000245.4(MET):c.4037G>A (p.Gly1346Glu) rs2117111902
NM_000245.4(MET):c.403A>T (p.Ser135Cys) rs1791478961
NM_000245.4(MET):c.4041G>T (p.Glu1347Asp) rs1562941622
NM_000245.4(MET):c.4044C>T (p.His1348=) rs1386889641
NM_000245.4(MET):c.4047T>C (p.Tyr1349=)
NM_000245.4(MET):c.4048G>A (p.Val1350Ile)
NM_000245.4(MET):c.404G>A (p.Ser135Asn) rs1203410917
NM_000245.4(MET):c.4050C>T (p.Val1350=)
NM_000245.4(MET):c.4051C>T (p.His1351Tyr) rs2117112144
NM_000245.4(MET):c.4052A>C (p.His1351Pro)
NM_000245.4(MET):c.4052A>G (p.His1351Arg) rs1490801483
NM_000245.4(MET):c.4052A>T (p.His1351Leu) rs1490801483
NM_000245.4(MET):c.4056G>C (p.Val1352=)
NM_000245.4(MET):c.4058A>T (p.Asn1353Ile)
NM_000245.4(MET):c.4059C>T (p.Asn1353=) rs45571634
NM_000245.4(MET):c.4064C>T (p.Thr1355Ile)
NM_000245.4(MET):c.4068T>A (p.Tyr1356Ter) rs767214353
NM_000245.4(MET):c.4074C>A (p.Asn1358Lys)
NM_000245.4(MET):c.4077A>G (p.Val1359=)
NM_000245.4(MET):c.4078A>G (p.Lys1360Glu) rs1795661591
NM_000245.4(MET):c.4080A>G (p.Lys1360=)
NM_000245.4(MET):c.4086C>A (p.Val1362=) rs753757242
NM_000245.4(MET):c.4086C>G (p.Val1362=) rs753757242
NM_000245.4(MET):c.4087G>T (p.Ala1363Ser) rs45578433
NM_000245.4(MET):c.4092_4093inv (p.Tyr1365His)
NM_000245.4(MET):c.4094A>G (p.Tyr1365Cys) rs1795662590
NM_000245.4(MET):c.4094A>T (p.Tyr1365Phe)
NM_000245.4(MET):c.4096C>A (p.Pro1366Thr) rs1795662723
NM_000245.4(MET):c.4098T>G (p.Pro1366=) rs1645508828
NM_000245.4(MET):c.4103T>C (p.Leu1368Pro) rs2117112993
NM_000245.4(MET):c.4104G>A (p.Leu1368=) rs1795663226
NM_000245.4(MET):c.4107G>A (p.Leu1369=) rs1795663624
NM_000245.4(MET):c.4109C>G (p.Ser1370Ter)
NM_000245.4(MET):c.410A>G (p.Asn137Ser) rs1584876716
NM_000245.4(MET):c.4110A>C (p.Ser1370=)
NM_000245.4(MET):c.4110A>G (p.Ser1370=) rs1795663778
NM_000245.4(MET):c.4112C>T (p.Ser1371Leu)
NM_000245.4(MET):c.4115A>C (p.Glu1372Ala) rs1584978594
NM_000245.4(MET):c.4117G>T (p.Asp1373Tyr)
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly) rs773898036
NM_000245.4(MET):c.4118A>T (p.Asp1373Val) rs773898036
NM_000245.4(MET):c.4120A>G (p.Asn1374Asp)
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys) rs370767911
NM_000245.4(MET):c.4123G>A (p.Ala1375Thr) rs373517956
NM_000245.4(MET):c.4123G>T (p.Ala1375Ser) rs373517956
NM_000245.4(MET):c.4124C>T (p.Ala1375Val)
NM_000245.4(MET):c.4126G>A (p.Asp1376Asn)
NM_000245.4(MET):c.4130A>G (p.Asp1377Gly)
NM_000245.4(MET):c.4131T>C (p.Asp1377=)
NM_000245.4(MET):c.4132G>A (p.Glu1378Lys) rs1795665686
NM_000245.4(MET):c.4135G>A (p.Val1379Met) rs1554402266
NM_000245.4(MET):c.4136T>G (p.Val1379Gly) rs2117113573
NM_000245.4(MET):c.4140C>A (p.Asp1380Glu) rs370368651
NM_000245.4(MET):c.4141A>G (p.Thr1381Ala) rs1292389793
NM_000245.4(MET):c.4142C>T (p.Thr1381Ile) rs2117113682
NM_000245.4(MET):c.4144C>A (p.Arg1382=) rs200315561
NM_000245.4(MET):c.4144C>T (p.Arg1382Ter) rs200315561
NM_000245.4(MET):c.4145G>C (p.Arg1382Pro) rs752694306
NM_000245.4(MET):c.4145G>T (p.Arg1382Leu) rs752694306
NM_000245.4(MET):c.4146A>G (p.Arg1382=)
NM_000245.4(MET):c.4156T>C (p.Phe1386Leu)
NM_000245.4(MET):c.4159T>C (p.Trp1387Arg)
NM_000245.4(MET):c.4162G>A (p.Glu1388Lys)
NM_000245.4(MET):c.4167A>G (p.Thr1389=) rs2117114225
NM_000245.4(MET):c.4170A>G (p.Ser1390=) rs1584978746
NM_000245.4(MET):c.4172del (p.Ter1391CysextTer?) rs2117114331
NM_000245.4(MET):c.424C>G (p.Gln142Glu) rs1554378495
NM_000245.4(MET):c.425A>G (p.Gln142Arg) rs768640780
NM_000245.4(MET):c.427C>A (p.Arg143=) rs779093896
NM_000245.4(MET):c.42C>G (p.Leu14=) rs2116578695
NM_000245.4(MET):c.434T>C (p.Val145Ala)
NM_000245.4(MET):c.439C>T (p.Pro147Ser) rs2116588845
NM_000245.4(MET):c.43C>T (p.Leu15=) rs2116578733
NM_000245.4(MET):c.450T>C (p.His150=) rs2116589122
NM_000245.4(MET):c.451A>G (p.Thr151Ala) rs2116589147
NM_000245.4(MET):c.452C>T (p.Thr151Ile) rs1584876832
NM_000245.4(MET):c.453T>C (p.Thr151=)
NM_000245.4(MET):c.456T>C (p.Ala152=) rs1584876842
NM_000245.4(MET):c.457G>A (p.Asp153Asn)
NM_000245.4(MET):c.463C>A (p.Gln155Lys)
NM_000245.4(MET):c.464A>G (p.Gln155Arg) rs2116589485
NM_000245.4(MET):c.465G>T (p.Gln155His) rs863224695
NM_000245.4(MET):c.466T>C (p.Ser156Pro) rs2116589535
NM_000245.4(MET):c.466_467insATGT (p.Ser156fs)
NM_000245.4(MET):c.467del (p.Ser156fs)
NM_000245.4(MET):c.468G>A (p.Ser156=) rs576502224
NM_000245.4(MET):c.468G>C (p.Ser156=) rs576502224
NM_000245.4(MET):c.471G>A (p.Glu157=) rs1451799154
NM_000245.4(MET):c.471G>C (p.Glu157Asp) rs1451799154
NM_000245.4(MET):c.472G>T (p.Val158Phe) rs1227091238
NM_000245.4(MET):c.473T>C (p.Val158Ala) rs2116589740
NM_000245.4(MET):c.474T>C (p.Val158=) rs1584876891
NM_000245.4(MET):c.476A>G (p.His159Arg)
NM_000245.4(MET):c.477C>A (p.His159Gln) rs1584876898
NM_000245.4(MET):c.478T>C (p.Cys160Arg)
NM_000245.4(MET):c.47T>G (p.Phe16Cys)
NM_000245.4(MET):c.482T>C (p.Ile161Thr) rs1060503532
NM_000245.4(MET):c.491C>T (p.Pro164Leu) rs1562883575
NM_000245.4(MET):c.492A>G (p.Pro164=)
NM_000245.4(MET):c.495G>C (p.Gln165His) rs1060503537
NM_000245.4(MET):c.496A>G (p.Ile166Val)
NM_000245.4(MET):c.497T>G (p.Ile166Arg) rs773830746
NM_000245.4(MET):c.498A>G (p.Ile166Met) rs2116590397
NM_000245.4(MET):c.501A>C (p.Glu167Asp) rs1584876986
NM_000245.4(MET):c.501A>G (p.Glu167=)
NM_000245.4(MET):c.504G>A (p.Glu168=) rs55985569
NM_000245.4(MET):c.505C>T (p.Pro169Ser)
NM_000245.4(MET):c.508A>G (p.Ser170Gly)
NM_000245.4(MET):c.509G>A (p.Ser170Asn) rs1584877029
NM_000245.4(MET):c.50C>G (p.Thr17Ser) rs747777018
NM_000245.4(MET):c.512A>C (p.Gln171Pro)
NM_000245.4(MET):c.519T>C (p.Pro173=) rs2116590943
NM_000245.4(MET):c.51C>T (p.Thr17=) rs1584875653
NM_000245.4(MET):c.522C>G (p.Asp174Glu) rs863224696
NM_000245.4(MET):c.522C>T (p.Asp174=)
NM_000245.4(MET):c.524G>A (p.Cys175Tyr) rs1584877055
NM_000245.4(MET):c.528G>A (p.Val176=)
NM_000245.4(MET):c.52T>C (p.Leu18=)
NM_000245.4(MET):c.52T>G (p.Leu18Val)
NM_000245.4(MET):c.531G>T (p.Val177=) rs755804127
NM_000245.4(MET):c.532A>G (p.Ser178Gly)
NM_000245.4(MET):c.535G>T (p.Ala179Ser) rs753697730
NM_000245.4(MET):c.537C>G (p.Ala179=)
NM_000245.4(MET):c.538C>G (p.Leu180Val) rs1584877113
NM_000245.4(MET):c.538C>T (p.Leu180=)
NM_000245.4(MET):c.540G>A (p.Leu180=) rs1791488808
NM_000245.4(MET):c.550_579dup (p.Ile193_Asn194insValLeuSerSerValLysAspArgPheIle)
NM_000245.4(MET):c.553C>G (p.Leu185Val) rs376097698
NM_000245.4(MET):c.554T>A (p.Leu185His) rs1791489495
NM_000245.4(MET):c.554T>C (p.Leu185Pro) rs1791489495
NM_000245.4(MET):c.558A>G (p.Ser186=)
NM_000245.4(MET):c.559T>A (p.Ser187Thr) rs1791489630
NM_000245.4(MET):c.562G>A (p.Val188Ile) rs2116591991
NM_000245.4(MET):c.564A>T (p.Val188=) rs1791489742
NM_000245.4(MET):c.567G>A (p.Lys189=) rs879254341
NM_000245.4(MET):c.568G>A (p.Asp190Asn)
NM_000245.4(MET):c.569A>G (p.Asp190Gly) rs1028165414
NM_000245.4(MET):c.570C>A (p.Asp190Glu)
NM_000245.4(MET):c.570C>G (p.Asp190Glu) rs1791490183
NM_000245.4(MET):c.571C>A (p.Arg191=) rs530932258
NM_000245.4(MET):c.571C>G (p.Arg191Gly) rs530932258
NM_000245.4(MET):c.571C>T (p.Arg191Trp) rs530932258
NM_000245.4(MET):c.572G>T (p.Arg191Leu)
NM_000245.4(MET):c.576C>T (p.Phe192=) rs2116592376
NM_000245.4(MET):c.577A>C (p.Ile193Leu) rs747138607
NM_000245.4(MET):c.57G>A (p.Val19=) rs1584875673
NM_000245.4(MET):c.581A>C (p.Asn194Thr) rs370170168
NM_000245.4(MET):c.581A>G (p.Asn194Ser) rs370170168
NM_000245.4(MET):c.583T>C (p.Phe195Leu)
NM_000245.4(MET):c.584T>A (p.Phe195Tyr)
NM_000245.4(MET):c.586T>C (p.Phe196Leu)
NM_000245.4(MET):c.589G>A (p.Val197Ile) rs2116592694
NM_000245.4(MET):c.594C>T (p.Gly198=) rs549459978
NM_000245.4(MET):c.596A>G (p.Asn199Ser) rs1342574948
NM_000245.4(MET):c.597T>C (p.Asn199=) rs2116592884
NM_000245.4(MET):c.601A>G (p.Ile201Val) rs2116592997
NM_000245.4(MET):c.602T>C (p.Ile201Thr) rs2116593025
NM_000245.4(MET):c.605A>C (p.Asn202Thr)
NM_000245.4(MET):c.608C>A (p.Ser203Tyr)
NM_000245.4(MET):c.608C>T (p.Ser203Phe)
NM_000245.4(MET):c.608CTT[1] (p.Ser204del) rs764811491
NM_000245.4(MET):c.609T>A (p.Ser203=) rs1269191859
NM_000245.4(MET):c.610T>C (p.Ser204Pro) rs1791492133
NM_000245.4(MET):c.611C>T (p.Ser204Phe)
NM_000245.4(MET):c.612T>C (p.Ser204=)
NM_000245.4(MET):c.613T>G (p.Tyr205Asp)
NM_000245.4(MET):c.615T>C (p.Tyr205=) rs2116593354
NM_000245.4(MET):c.618C>T (p.Phe206=) rs2116593426
NM_000245.4(MET):c.61A>G (p.Arg21Gly)
NM_000245.4(MET):c.621A>G (p.Pro207=) rs2116593527
NM_000245.4(MET):c.622G>T (p.Asp208Tyr) rs2116593557
NM_000245.4(MET):c.628C>A (p.Pro210Thr) rs983457211
NM_000245.4(MET):c.628C>T (p.Pro210Ser) rs983457211
NM_000245.4(MET):c.629del (p.Pro210fs) rs1554378645
NM_000245.4(MET):c.632T>C (p.Leu211Ser)
NM_000245.4(MET):c.633G>A (p.Leu211=) rs552870344
NM_000245.4(MET):c.635A>T (p.His212Leu)
NM_000245.4(MET):c.638C>T (p.Ser213Leu)
NM_000245.4(MET):c.639G>C (p.Ser213=)
NM_000245.4(MET):c.640A>G (p.Ile214Val) rs786203065
NM_000245.4(MET):c.646G>A (p.Val216Met)
NM_000245.4(MET):c.647T>C (p.Val216Ala) rs1396083482
NM_000245.4(MET):c.653G>T (p.Arg218Met) rs1441045077
NM_000245.4(MET):c.654G>C (p.Arg218Ser) rs35284565
NM_000245.4(MET):c.654G>T (p.Arg218Ser) rs35284565
NM_000245.4(MET):c.665C>G (p.Thr222Arg)
NM_000245.4(MET):c.668A>G (p.Lys223Arg)
NM_000245.4(MET):c.66C>A (p.Ser22Arg) rs773018125
NM_000245.4(MET):c.66C>G (p.Ser22Arg)
NM_000245.4(MET):c.672T>C (p.Asp224=) rs2116594941
NM_000245.4(MET):c.674G>A (p.Gly225Asp) rs1791495307
NM_000245.4(MET):c.674G>T (p.Gly225Val) rs1791495307
NM_000245.4(MET):c.679A>G (p.Met227Val)
NM_000245.4(MET):c.680T>C (p.Met227Thr) rs1226545782
NM_000245.4(MET):c.689C>A (p.Thr230Lys)
NM_000245.4(MET):c.690G>T (p.Thr230=) rs200138253
NM_000245.4(MET):c.693C>A (p.Asp231Glu)
NM_000245.4(MET):c.694C>G (p.Gln232Glu)
NM_000245.4(MET):c.69T>C (p.Asn23=)
NM_000245.4(MET):c.700T>C (p.Tyr234His)
NM_000245.4(MET):c.702C>T (p.Tyr234=) rs2116595737
NM_000245.4(MET):c.703A>C (p.Ile235Leu) rs1266863567
NM_000245.4(MET):c.703A>G (p.Ile235Val) rs1266863567
NM_000245.4(MET):c.709G>A (p.Val237Ile) rs757402499
NM_000245.4(MET):c.711T>C (p.Val237=) rs932492107
NM_000245.4(MET):c.713T>C (p.Leu238Ser) rs34349517
NM_000245.4(MET):c.717T>C (p.Pro239=)
NM_000245.4(MET):c.717T>G (p.Pro239=)
NM_000245.4(MET):c.720G>A (p.Glu240=)
NM_000245.4(MET):c.723C>T (p.Phe241=)
NM_000245.4(MET):c.724A>G (p.Arg242Gly) rs904275312
NM_000245.4(MET):c.728A>G (p.Asp243Gly) rs1562883992
NM_000245.4(MET):c.72G>A (p.Gly24=) rs770829669
NM_000245.4(MET):c.732T>G (p.Ser244=) rs770202229
NM_000245.4(MET):c.733T>C (p.Tyr245His)
NM_000245.4(MET):c.738C>A (p.Pro246=) rs1461455526
NM_000245.4(MET):c.738dup (p.Ile247fs) rs1584877533
NM_000245.4(MET):c.73G>T (p.Glu25Ter) rs2116579525
NM_000245.4(MET):c.744G>T (p.Lys248Asn) rs1562884016
NM_000245.4(MET):c.748G>A (p.Val250Ile) rs2116596826
NM_000245.4(MET):c.749T>C (p.Val250Ala) rs2116596855
NM_000245.4(MET):c.750C>T (p.Val250=) rs2116596869
NM_000245.4(MET):c.754G>A (p.Ala252Thr)
NM_000245.4(MET):c.755C>T (p.Ala252Val) rs1791500546
NM_000245.4(MET):c.758T>G (p.Phe253Cys)
NM_000245.4(MET):c.759T>G (p.Phe253Leu) rs2116597103
NM_000245.4(MET):c.75G>A (p.Glu25=) rs925600985
NM_000245.4(MET):c.762A>G (p.Glu254=) rs760278126
NM_000245.4(MET):c.764G>T (p.Ser255Ile) rs1294994065
NM_000245.4(MET):c.765C>T (p.Ser255=) rs2116597275
NM_000245.4(MET):c.767A>G (p.Asn256Ser)
NM_000245.4(MET):c.768C>A (p.Asn256Lys)
NM_000245.4(MET):c.76T>C (p.Cys26Arg) rs2116579595
NM_000245.4(MET):c.770A>G (p.Asn257Ser) rs759388741
NM_000245.4(MET):c.771T>G (p.Asn257Lys) rs2116597435
NM_000245.4(MET):c.774T>C (p.Phe258=) rs2116597528
NM_000245.4(MET):c.774del (p.Phe258fs) rs1281772042
NM_000245.4(MET):c.775_777del (p.Ile259del) rs1791501640
NM_000245.4(MET):c.780C>T (p.Tyr260=) rs2116597678
NM_000245.4(MET):c.786G>C (p.Leu262Phe) rs1791501952
NM_000245.4(MET):c.789G>T (p.Thr263=) rs554190225
NM_000245.4(MET):c.790G>T (p.Val264Phe) rs2116597936
NM_000245.4(MET):c.797G>A (p.Arg266Lys)
NM_000245.4(MET):c.799G>A (p.Glu267Lys) rs755954919
NM_000245.4(MET):c.79A>T (p.Lys27Ter) rs2116579656
NM_000245.4(MET):c.7G>A (p.Ala3Thr) rs1416393044
NM_000245.4(MET):c.805C>G (p.Leu269Val) rs781257386
NM_000245.4(MET):c.807A>G (p.Leu269=)
NM_000245.4(MET):c.809A>G (p.Asp270Gly) rs1791503359
NM_000245.4(MET):c.80A>G (p.Lys27Arg) rs555920594
NM_000245.4(MET):c.80_81delinsGG (p.Lys27Arg)
NM_000245.4(MET):c.811G>A (p.Ala271Thr) rs1162540199
NM_000245.4(MET):c.813T>C (p.Ala271=) rs750586651
NM_000245.4(MET):c.816G>C (p.Gln272His) rs1168091854
NM_000245.4(MET):c.818C>G (p.Thr273Ser) rs368144654
NM_000245.4(MET):c.818C>T (p.Thr273Ile)
NM_000245.4(MET):c.826A>C (p.Thr276Pro) rs769128478
NM_000245.4(MET):c.826A>G (p.Thr276Ala) rs769128478
NM_000245.4(MET):c.826A>T (p.Thr276Ser) rs769128478
NM_000245.4(MET):c.82G>A (p.Glu28Lys) rs1562882876
NM_000245.4(MET):c.82G>C (p.Glu28Gln)
NM_000245.4(MET):c.835A>G (p.Ile279Val)
NM_000245.4(MET):c.836T>C (p.Ile279Thr) rs2116599173
NM_000245.4(MET):c.837C>G (p.Ile279Met)
NM_000245.4(MET):c.838A>G (p.Arg280Gly)
NM_000245.4(MET):c.839G>A (p.Arg280Lys) rs770528254
NM_000245.4(MET):c.839G>C (p.Arg280Thr)
NM_000245.4(MET):c.83A>T (p.Glu28Val)
NM_000245.4(MET):c.840G>A (p.Arg280=) rs1207381066
NM_000245.4(MET):c.841T>C (p.Phe281Leu)
NM_000245.4(MET):c.841T>G (p.Phe281Val) rs1791504987
NM_000245.4(MET):c.844T>G (p.Cys282Gly)
NM_000245.4(MET):c.845G>C (p.Cys282Ser) rs879254343
NM_000245.4(MET):c.847T>C (p.Ser283Pro) rs1791505194
NM_000245.4(MET):c.84G>C (p.Glu28Asp) rs759602956
NM_000245.4(MET):c.850A>G (p.Ile284Val) rs776014448
NM_000245.4(MET):c.851T>C (p.Ile284Thr) rs2116599526
NM_000245.4(MET):c.855C>T (p.Asn285=) rs1791505633
NM_000245.4(MET):c.856T>G (p.Ser286Ala)
NM_000245.4(MET):c.858T>C (p.Ser286=) rs1791505734
NM_000245.4(MET):c.85G>C (p.Ala29Pro) rs765246117
NM_000245.4(MET):c.85G>T (p.Ala29Ser) rs765246117
NM_000245.4(MET):c.860G>A (p.Gly287Glu)
NM_000245.4(MET):c.860G>C (p.Gly287Ala) rs2116599722
NM_000245.4(MET):c.861A>G (p.Gly287=)
NM_000245.4(MET):c.862T>C (p.Leu288=) rs1584877825
NM_000245.4(MET):c.868T>C (p.Ser290Pro) rs2116599896
NM_000245.4(MET):c.872A>G (p.Tyr291Cys)
NM_000245.4(MET):c.874A>G (p.Met292Val) rs1395827839
NM_000245.4(MET):c.875T>G (p.Met292Arg)
NM_000245.4(MET):c.87A>G (p.Ala29=) rs1584875753
NM_000245.4(MET):c.880A>C (p.Met294Leu)
NM_000245.4(MET):c.883C>T (p.Pro295Ser)
NM_000245.4(MET):c.885T>G (p.Pro295=)
NM_000245.4(MET):c.888G>A (p.Leu296=) rs1341728679
NM_000245.4(MET):c.889G>C (p.Glu297Gln)
NM_000245.4(MET):c.891G>C (p.Glu297Asp) rs1791506647
NM_000245.4(MET):c.894T>C (p.Cys298=)
NM_000245.4(MET):c.89T>C (p.Leu30Pro)
NM_000245.4(MET):c.8C>T (p.Ala3Val)
NM_000245.4(MET):c.910A>G (p.Arg304Gly)
NM_000245.4(MET):c.911G>A (p.Arg304Lys)
NM_000245.4(MET):c.914A>G (p.Lys305Arg) rs763935791
NM_000245.4(MET):c.915A>G (p.Lys305=)
NM_000245.4(MET):c.916A>C (p.Lys306Gln) rs1032682239
NM_000245.4(MET):c.917_919del (p.Lys306del) rs1584877929
NM_000245.4(MET):c.920G>A (p.Arg307Lys) rs2116600992
NM_000245.4(MET):c.921A>G (p.Arg307=) rs2116601014
NM_000245.4(MET):c.924C>G (p.Ser308=) rs1791507929
NM_000245.4(MET):c.925A>C (p.Thr309Pro) rs35601148
NM_000245.4(MET):c.926C>T (p.Thr309Ile)
NM_000245.4(MET):c.927A>G (p.Thr309=)
NM_000245.4(MET):c.92C>T (p.Ala31Val)
NM_000245.4(MET):c.930G>T (p.Lys310Asn)
NM_000245.4(MET):c.938T>C (p.Val313Ala) rs1562884246
NM_000245.4(MET):c.93A>G (p.Ala31=) rs763196530
NM_000245.4(MET):c.940T>G (p.Phe314Val) rs2116601372
NM_000245.4(MET):c.943A>G (p.Asn315Asp)
NM_000245.4(MET):c.945T>C (p.Asn315=) rs1060504941
NM_000245.4(MET):c.947T>C (p.Ile316Thr) rs1584877972
NM_000245.4(MET):c.949C>A (p.Leu317Ile) rs750531377
NM_000245.4(MET):c.949C>T (p.Leu317Phe) rs750531377
NM_000245.4(MET):c.950T>C (p.Leu317Pro)
NM_000245.4(MET):c.952C>T (p.Gln318Ter) rs1791509642
NM_000245.4(MET):c.954G>A (p.Gln318=)
NM_000245.4(MET):c.955G>T (p.Ala319Ser) rs545332056
NM_000245.4(MET):c.956C>T (p.Ala319Val) rs1791510135
NM_000245.4(MET):c.960G>C (p.Ala320=)
NM_000245.4(MET):c.961T>C (p.Tyr321His) rs2116601933
NM_000245.4(MET):c.962A>G (p.Tyr321Cys)
NM_000245.4(MET):c.965T>A (p.Val322Asp)
NM_000245.4(MET):c.968G>A (p.Ser323Asn) rs2116602095
NM_000245.4(MET):c.96G>A (p.Lys32=) rs2116580040
NM_000245.4(MET):c.970A>C (p.Lys324Gln)
NM_000245.4(MET):c.970A>G (p.Lys324Glu) rs1791511003
NM_000245.4(MET):c.972G>C (p.Lys324Asn)
NM_000245.4(MET):c.973C>A (p.Pro325Thr)
NM_000245.4(MET):c.977G>C (p.Gly326Ala) rs1791511601
NM_000245.4(MET):c.978G>A (p.Gly326=) rs769507421
NM_000245.4(MET):c.978G>C (p.Gly326=) rs769507421
NM_000245.4(MET):c.979G>T (p.Ala327Ser) rs2116602432
NM_000245.4(MET):c.984G>A (p.Gln328=) rs2116602563
NM_000245.4(MET):c.985C>G (p.Leu329Val)
NM_000245.4(MET):c.987T>G (p.Leu329=) rs921189227
NM_000245.4(MET):c.990T>C (p.Ala330=) rs2116602743
NM_000245.4(MET):c.991A>G (p.Arg331Gly) rs1791512225
NM_000245.4(MET):c.992G>T (p.Arg331Ile)
NM_000245.4(MET):c.994C>A (p.Gln332Lys)
NM_000245.4(MET):c.995A>G (p.Gln332Arg) rs1060503529
NM_000245.4(MET):c.998T>C (p.Ile333Thr) rs1584878120
NM_000245.4(MET):c.9C>T (p.Ala3=) rs1797064273
NM_001127500.2(MET):c.(?_-1)_1200+?dup

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