ClinVar Miner

List of variants in gene DSC2 studied for arrhythmogenic right ventricular dysplasia 11

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1004
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.18480
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_024422.6(DSC2):c.*579T>C rs59914360 0.09730
NM_024422.6(DSC2):c.*1096T>C rs74749519 0.01657
NM_024422.6(DSC2):c.*1604A>G rs188072930 0.01130
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_024422.6(DSC2):c.*1283A>G rs141273986 0.00682
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_024422.6(DSC2):c.*1658G>A rs185216732 0.00455
NM_024422.6(DSC2):c.*1017C>T rs191171295 0.00357
NM_024422.6(DSC2):c.*46A>T rs77431927 0.00294
NM_024422.6(DSC2):c.1264-5C>T rs183614856 0.00292
NM_024422.6(DSC2):c.*1475G>C rs180728052 0.00248
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_024422.6(DSC2):c.*764T>A rs539965523 0.00140
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_024422.6(DSC2):c.*1541A>T rs571420655 0.00101
NM_024422.6(DSC2):c.*534A>G rs373266930 0.00083
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988 0.00079
NM_024422.6(DSC2):c.*1784G>T rs375290800 0.00073
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) rs143040393 0.00068
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533 0.00061
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862 0.00052
NM_024422.6(DSC2):c.*472T>A rs555348907 0.00045
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) rs140232809 0.00035
NM_024422.6(DSC2):c.174T>C (p.Phe58=) rs150792047 0.00034
NM_024422.6(DSC2):c.1269G>A (p.Leu423=) rs376049846 0.00032
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_024422.6(DSC2):c.*1927T>C rs532718510 0.00026
NM_024422.6(DSC2):c.631-13dup rs551337657 0.00026
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_024422.6(DSC2):c.1520+8C>G rs372979057 0.00024
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
NM_024422.6(DSC2):c.*1628T>G rs767804423 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_024422.6(DSC2):c.*1704G>T rs181853776 0.00022
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720 0.00022
NM_024422.6(DSC2):c.2546A>C (p.His849Pro) rs184487763 0.00021
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_024422.6(DSC2):c.135C>T (p.Ala45=) rs749323567 0.00018
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val) rs367990772 0.00018
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) rs143413607 0.00016
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817 0.00015
NM_024422.6(DSC2):c.*2029A>T rs548041881 0.00014
NM_024422.6(DSC2):c.2226A>G (p.Thr742=) rs142807209 0.00014
NM_024422.6(DSC2):c.*1158A>G rs749440073 0.00013
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_024422.6(DSC2):c.2298G>C (p.Gln766His) rs139558481 0.00013
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) rs373201722 0.00013
NM_024422.6(DSC2):c.*1408A>G rs539091896 0.00011
NM_024422.6(DSC2):c.*753T>G rs940327323 0.00011
NM_024422.6(DSC2):c.1070G>A (p.Arg357His) rs201201194 0.00011
NM_024422.6(DSC2):c.630+8C>T rs201147144 0.00011
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr) rs756304120 0.00010
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947 0.00010
NM_024422.6(DSC2):c.1802A>C (p.Glu601Ala) rs537381028 0.00009
NM_024422.6(DSC2):c.2251-5T>G rs374262463 0.00009
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) rs139979318 0.00009
NM_024422.6(DSC2):c.951C>T (p.Asp317=) rs749810775 0.00009
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys) rs180908546 0.00008
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr) rs199714872 0.00008
NM_024422.6(DSC2):c.596G>A (p.Arg199His) rs374707462 0.00008
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478 0.00006
NM_024422.6(DSC2):c.1264-18A>G rs374946259 0.00006
NM_024422.6(DSC2):c.1291A>G (p.Met431Val) rs377287621 0.00006
NM_024422.6(DSC2):c.1591A>C (p.Arg531=) rs727502981 0.00006
NM_024422.6(DSC2):c.1638T>C (p.Asn546=) rs145987522 0.00006
NM_024422.6(DSC2):c.2103G>A (p.Leu701=) rs141726394 0.00006
NM_024422.6(DSC2):c.2126-7C>G rs936641955 0.00006
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429 0.00006
NM_024422.6(DSC2):c.2151G>C (p.Gly717=) rs752691135 0.00006
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met) rs759513934 0.00006
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) rs765067237 0.00006
NM_024422.6(DSC2):c.2259G>A (p.Ala753=) rs201086521 0.00006
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe) rs141873745 0.00006
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu) rs141379407 0.00006
NM_024422.6(DSC2):c.*1972A>C rs751949322 0.00005
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) rs879255385 0.00005
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708 0.00005
NM_024422.6(DSC2):c.*1346T>A rs1029495207 0.00004
NM_024422.6(DSC2):c.*1444A>G rs886053684 0.00004
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 0.00004
NM_024422.6(DSC2):c.1176T>C (p.Asn392=) rs769365346 0.00004
NM_024422.6(DSC2):c.1308T>C (p.Gly436=) rs762786487 0.00004
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu) rs397517394 0.00004
NM_024422.6(DSC2):c.160C>T (p.Leu54=) rs149347582 0.00004
NM_024422.6(DSC2):c.1776G>A (p.Ala592=) rs727502980 0.00004
NM_024422.6(DSC2):c.2175A>C (p.Pro725=) rs921649870 0.00004
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn) rs762055797 0.00004
NM_024422.6(DSC2):c.2202G>A (p.Gln734=) rs775922060 0.00004
NM_024422.6(DSC2):c.2208C>T (p.Asn736=) rs727504534 0.00004
NM_024422.6(DSC2):c.2251-20G>A rs779900062 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu) rs766828422 0.00004
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys) rs369761766 0.00004
NM_024422.6(DSC2):c.2509-16T>C rs978907622 0.00004
NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys) rs758950880 0.00004
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu) rs202031070 0.00004
NM_024422.6(DSC2):c.286A>G (p.Ile96Val) rs772447450 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481 0.00004
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr) rs978623916 0.00004
NM_024422.6(DSC2):c.630+15G>A rs201596999 0.00004
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621 0.00004
NM_024422.6(DSC2):c.70-7T>G rs184341263 0.00004
NM_024422.6(DSC2):c.776-12T>G rs397517403 0.00004
NM_024422.6(DSC2):c.*166C>G rs886053692 0.00003
NM_024422.6(DSC2):c.*864G>A rs746780312 0.00003
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn) rs757065157 0.00003
NM_024422.6(DSC2):c.115G>A (p.Val39Ile) rs1447651355 0.00003
NM_024422.6(DSC2):c.1264-4G>A rs377439942 0.00003
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr) rs373324195 0.00003
NM_024422.6(DSC2):c.1663+4A>G rs369849387 0.00003
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp) rs1342808624 0.00003
NM_024422.6(DSC2):c.1881A>G (p.Ala627=) rs752023626 0.00003
NM_024422.6(DSC2):c.2036A>G (p.His679Arg) rs145710244 0.00003
NM_024422.6(DSC2):c.2059G>A (p.Gly687Ser) rs199616533 0.00003
NM_024422.6(DSC2):c.2126G>A (p.Cys709Tyr) rs145831682 0.00003
NM_024422.6(DSC2):c.2157T>C (p.Ser719=) rs985629599 0.00003
NM_024422.6(DSC2):c.2250+12G>T rs201039801 0.00003
NM_024422.6(DSC2):c.2509-9C>T rs773056962 0.00003
NM_024422.6(DSC2):c.2595G>A (p.Val865=) rs765879750 0.00003
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln) rs535014010 0.00003
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) rs140856220 0.00003
NM_024422.6(DSC2):c.395G>A (p.Arg132His) rs375410133 0.00003
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) rs769787593 0.00003
NM_024422.6(DSC2):c.601G>A (p.Val201Ile) rs202058544 0.00003
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln) rs200634448 0.00003
NM_024422.6(DSC2):c.630+19G>A rs750910749 0.00003
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705 0.00003
NM_024422.6(DSC2):c.708A>G (p.Glu236=) rs377279601 0.00003
NM_024422.6(DSC2):c.776-13T>G rs370595433 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024422.6(DSC2):c.818C>T (p.Pro273Leu) rs864622708 0.00003
NM_024422.6(DSC2):c.841A>G (p.Lys281Glu) rs373697870 0.00003
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119 0.00003
NM_024422.6(DSC2):c.943-9T>C rs750684563 0.00003
NM_024422.6(DSC2):c.*1110A>G rs1358624129 0.00002
NM_024422.6(DSC2):c.*1356G>A rs1986629320 0.00002
NM_024422.6(DSC2):c.1033A>G (p.Ile345Val) rs1177194145 0.00002
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) rs560482778 0.00002
NM_024422.6(DSC2):c.1263+10A>G rs1462640047 0.00002
NM_024422.6(DSC2):c.1401G>A (p.Glu467=) rs977781359 0.00002
NM_024422.6(DSC2):c.1438A>G (p.Met480Val) rs370616107 0.00002
NM_024422.6(DSC2):c.1456G>A (p.Val486Met) rs188634770 0.00002
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp) rs397517391 0.00002
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu) rs977269905 0.00002
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_024422.6(DSC2):c.1846A>G (p.Thr616Ala) rs753887142 0.00002
NM_024422.6(DSC2):c.1862G>T (p.Arg621Ile) rs1225904818 0.00002
NM_024422.6(DSC2):c.1875G>C (p.Leu625=) rs142594406 0.00002
NM_024422.6(DSC2):c.1986T>G (p.Thr662=) rs757613258 0.00002
NM_024422.6(DSC2):c.2031C>T (p.Cys677=) rs754488475 0.00002
NM_024422.6(DSC2):c.2126-20A>T rs779297158 0.00002
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met) rs180863872 0.00002
NM_024422.6(DSC2):c.2163G>A (p.Thr721=) rs773220437 0.00002
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr) rs777004957 0.00002
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu) rs1617629 0.00002
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp) rs201548399 0.00002
NM_024422.6(DSC2):c.2475G>C (p.Glu825Asp) rs776401728 0.00002
NM_024422.6(DSC2):c.2571T>C (p.Tyr857=) rs370144781 0.00002
NM_024422.6(DSC2):c.324A>G (p.Lys108=) rs779651366 0.00002
NM_024422.6(DSC2):c.360A>G (p.Leu120=) rs375772629 0.00002
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578 0.00002
NM_024422.6(DSC2):c.489G>A (p.Thr163=) rs752952811 0.00002
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg) rs750961818 0.00002
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro) rs149848359 0.00002
NM_024422.6(DSC2):c.750T>C (p.Phe250=) rs781667894 0.00002
NM_024422.6(DSC2):c.824C>T (p.Thr275Met) rs397517404 0.00002
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_024422.6(DSC2):c.874C>T (p.Pro292Ser) rs767340313 0.00002
NM_024422.6(DSC2):c.898A>G (p.Thr300Ala) rs531245154 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_024422.6(DSC2):c.965A>G (p.Lys322Arg) rs1157312147 0.00002
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro) rs397517409 0.00002
NM_024422.6(DSC2):c.*1401C>T rs886053685 0.00001
NM_024422.6(DSC2):c.1024A>G (p.Ile342Val) rs746745677 0.00001
NM_024422.6(DSC2):c.1039G>T (p.Asp347Tyr) rs1214725211 0.00001
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr) rs766413086 0.00001
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr) rs999869714 0.00001
NM_024422.6(DSC2):c.105G>A (p.Val35=) rs776441487 0.00001
NM_024422.6(DSC2):c.1077+11G>T rs727504868 0.00001
NM_024422.6(DSC2):c.1077+15T>C rs374321855 0.00001
NM_024422.6(DSC2):c.1081G>A (p.Val361Met) rs751810874 0.00001
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) rs538663626 0.00001
NM_024422.6(DSC2):c.1110T>C (p.Asp370=) rs1567977994 0.00001
NM_024422.6(DSC2):c.1120T>G (p.Leu374Val) rs1987251997 0.00001
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) rs794728075 0.00001
NM_024422.6(DSC2):c.1124G>A (p.Arg375Gln) rs770412621 0.00001
NM_024422.6(DSC2):c.1131T>G (p.Thr377=) rs772815380 0.00001
NM_024422.6(DSC2):c.1172C>A (p.Ala391Asp) rs1300215880 0.00001
NM_024422.6(DSC2):c.120C>A (p.Pro40=) rs773259822 0.00001
NM_024422.6(DSC2):c.1230C>T (p.Ala410=) rs778090203 0.00001
NM_024422.6(DSC2):c.1238A>G (p.Asn413Ser) rs1293927459 0.00001
NM_024422.6(DSC2):c.1309G>C (p.Val437Leu) rs775579662 0.00001
NM_024422.6(DSC2):c.1315A>G (p.Asn439Asp) rs148712725 0.00001
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr) rs1467311353 0.00001
NM_024422.6(DSC2):c.1347A>G (p.Pro449=) rs1157738158 0.00001
NM_024422.6(DSC2):c.1399G>C (p.Glu467Gln) rs1208470556 0.00001
NM_024422.6(DSC2):c.1402G>A (p.Gly468Ser) rs149316362 0.00001
NM_024422.6(DSC2):c.1410G>A (p.Glu470=) rs551265924 0.00001
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu) rs776398212 0.00001
NM_024422.6(DSC2):c.1435C>T (p.Arg479Cys) rs138761522 0.00001
NM_024422.6(DSC2):c.1438A>C (p.Met480Leu) rs370616107 0.00001
NM_024422.6(DSC2):c.144T>G (p.Leu48=) rs1598592489 0.00001
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn) rs780446276 0.00001
NM_024422.6(DSC2):c.146T>C (p.Val49Ala) rs1275514075 0.00001
NM_024422.6(DSC2):c.1506T>A (p.Ser502Arg) rs756803622 0.00001
NM_024422.6(DSC2):c.1520+6T>C rs1029243199 0.00001
NM_024422.6(DSC2):c.1521-18A>G rs886506694 0.00001
NM_024422.6(DSC2):c.1521-5A>G rs397517392 0.00001
NM_024422.6(DSC2):c.154+6G>A rs778131915 0.00001
NM_024422.6(DSC2):c.1547G>A (p.Gly516Glu) rs1402893994 0.00001
NM_024422.6(DSC2):c.1548G>T (p.Gly516=) rs1465276759 0.00001
NM_024422.6(DSC2):c.155-3C>T rs745988877 0.00001
NM_024422.6(DSC2):c.1560T>C (p.Ile520=) rs1193943164 0.00001
NM_024422.6(DSC2):c.1568A>G (p.Asn523Ser) rs766187198 0.00001
NM_024422.6(DSC2):c.1577C>T (p.Ser526Leu) rs887847751 0.00001
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val) rs756058875 0.00001
NM_024422.6(DSC2):c.1581C>G (p.Ile527Met) rs750329563 0.00001
NM_024422.6(DSC2):c.1596C>T (p.Ser532=) rs1387501743 0.00001
NM_024422.6(DSC2):c.159C>T (p.Asn53=) rs952701114 0.00001
NM_024422.6(DSC2):c.1627G>A (p.Gly543Ser) rs1418248949 0.00001
NM_024422.6(DSC2):c.1628G>A (p.Gly543Asp) rs977709312 0.00001
NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys) rs776917359 0.00001
NM_024422.6(DSC2):c.1678A>G (p.Thr560Ala) rs1314129882 0.00001
NM_024422.6(DSC2):c.1679C>T (p.Thr560Met) rs772775522 0.00001
NM_024422.6(DSC2):c.1693A>G (p.Ile565Val) rs780712159 0.00001
NM_024422.6(DSC2):c.1697T>C (p.Ile566Thr) rs1399123480 0.00001
NM_024422.6(DSC2):c.1712A>G (p.Asn571Ser) rs1462605063 0.00001
NM_024422.6(DSC2):c.1781T>C (p.Ile594Thr) rs915888072 0.00001
NM_024422.6(DSC2):c.1783G>A (p.Val595Ile) rs1447974524 0.00001
NM_024422.6(DSC2):c.1796C>G (p.Pro599Arg) rs377384219 0.00001
NM_024422.6(DSC2):c.1803G>A (p.Glu601=) rs1288832288 0.00001
NM_024422.6(DSC2):c.1889-10A>G rs1371722130 0.00001
NM_024422.6(DSC2):c.1906T>G (p.Ser636Ala) rs1191039477 0.00001
NM_024422.6(DSC2):c.1907C>T (p.Ser636Phe) rs764355417 0.00001
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys) rs758990451 0.00001
NM_024422.6(DSC2):c.1916A>G (p.Asn639Ser) rs369281243 0.00001
NM_024422.6(DSC2):c.1924C>G (p.Pro642Ala) rs368353349 0.00001
NM_024422.6(DSC2):c.1926A>G (p.Pro642=) rs776278152 0.00001
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396 0.00001
NM_024422.6(DSC2):c.1981G>A (p.Val661Ile) rs781419827 0.00001
NM_024422.6(DSC2):c.1990T>C (p.Leu664=) rs747173696 0.00001
NM_024422.6(DSC2):c.1996G>A (p.Val666Ile) rs758646191 0.00001
NM_024422.6(DSC2):c.2004G>A (p.Leu668=) rs1986839093 0.00001
NM_024422.6(DSC2):c.2010C>A (p.Asp670Glu) rs1423264468 0.00001
NM_024422.6(DSC2):c.2039G>T (p.Arg680Leu) rs374002111 0.00001
NM_024422.6(DSC2):c.2047C>A (p.Pro683Thr) rs1386709734 0.00001
NM_024422.6(DSC2):c.2068G>T (p.Val690Leu) rs768784624 0.00001
NM_024422.6(DSC2):c.2073A>G (p.Gln691=) rs776903280 0.00001
NM_024422.6(DSC2):c.2082G>T (p.Lys694Asn) rs397517397 0.00001
NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter) rs963715928 0.00001
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489 0.00001
NM_024422.6(DSC2):c.2125+18T>G rs750103770 0.00001
NM_024422.6(DSC2):c.2125T>G (p.Cys709Gly) rs755534194 0.00001
NM_024422.6(DSC2):c.2126-11T>C rs1283105269 0.00001
NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser) rs764008863 0.00001
NM_024422.6(DSC2):c.2206A>G (p.Asn736Asp) rs371950232 0.00001
NM_024422.6(DSC2):c.2215G>T (p.Val739Leu) rs780610767 0.00001
NM_024422.6(DSC2):c.2231C>T (p.Ala744Val) rs758269321 0.00001
NM_024422.6(DSC2):c.2244C>T (p.Asp748=) rs886039103 0.00001
NM_024422.6(DSC2):c.2256T>C (p.Ser752=) rs1369056367 0.00001
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val) rs1217851416 0.00001
NM_024422.6(DSC2):c.2294C>T (p.Ala765Val) rs771628564 0.00001
NM_024422.6(DSC2):c.2300G>A (p.Gly767Glu) rs772898155 0.00001
NM_024422.6(DSC2):c.2313C>T (p.Thr771=) rs778571921 0.00001
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) rs749174176 0.00001
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) rs1789054 0.00001
NM_024422.6(DSC2):c.2334C>T (p.Asn778=) rs1282599604 0.00001
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys) rs752873618 0.00001
NM_024422.6(DSC2):c.2354A>G (p.Glu785Gly) rs769747496 0.00001
NM_024422.6(DSC2):c.2370A>G (p.Gly790=) rs761302953 0.00001
NM_024422.6(DSC2):c.2379C>A (p.Thr793=) rs773813155 0.00001
NM_024422.6(DSC2):c.237C>T (p.Val79=) rs1002646457 0.00001
NM_024422.6(DSC2):c.2382G>A (p.Ser794=) rs761322462 0.00001
NM_024422.6(DSC2):c.2391C>T (p.Cys797=) rs544366164 0.00001
NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu) rs794728071 0.00001
NM_024422.6(DSC2):c.2408A>G (p.His803Arg) rs150124218 0.00001
NM_024422.6(DSC2):c.2416C>T (p.Leu806=) rs758409608 0.00001
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) rs755276378 0.00001
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met) rs756497616 0.00001
NM_024422.6(DSC2):c.2446G>A (p.Val816Met) rs377700521 0.00001
NM_024422.6(DSC2):c.2452A>G (p.Asn818Asp) rs1454999415 0.00001
NM_024422.6(DSC2):c.2472G>A (p.Ser824=) rs374348925 0.00001
NM_024422.6(DSC2):c.2509-8C>T rs772194578 0.00001
NM_024422.6(DSC2):c.2512G>A (p.Val838Met) rs1986695514 0.00001
NM_024422.6(DSC2):c.2545C>T (p.His849Tyr) rs1312909126 0.00001
NM_024422.6(DSC2):c.2588G>A (p.Gly863Glu) rs778423904 0.00001
NM_024422.6(DSC2):c.2592G>A (p.Ser864=) rs1241309506 0.00001
NM_024422.6(DSC2):c.2597C>G (p.Ala866Gly) rs760363798 0.00001
NM_024422.6(DSC2):c.2610T>C (p.Gly870=) rs761875347 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu) rs727504906 0.00001
NM_024422.6(DSC2):c.2642T>A (p.Leu881His) rs1231247825 0.00001
NM_024422.6(DSC2):c.2694C>A (p.Cys898Ter) rs1986684188 0.00001
NM_024422.6(DSC2):c.285C>T (p.Thr95=) rs773333125 0.00001
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu) rs1256252633 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.354+9G>A rs1397580089 0.00001
NM_024422.6(DSC2):c.355-3G>T rs975997446 0.00001
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn) rs762877422 0.00001
NM_024422.6(DSC2):c.373A>G (p.Thr125Ala) rs369061469 0.00001
NM_024422.6(DSC2):c.396C>T (p.Arg132=) rs773053517 0.00001
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser) rs1478081073 0.00001
NM_024422.6(DSC2):c.429G>A (p.Ser143=) rs542638302 0.00001
NM_024422.6(DSC2):c.435A>G (p.Leu145=) rs1167062231 0.00001
NM_024422.6(DSC2):c.448G>C (p.Gly150Arg) rs1220979594 0.00001
NM_024422.6(DSC2):c.474+5C>T rs397517400 0.00001
NM_024422.6(DSC2):c.474+9T>C rs1400346935 0.00001
NM_024422.6(DSC2):c.475-4C>T rs1431130615 0.00001
NM_024422.6(DSC2):c.478C>A (p.Gln160Lys) rs374844700 0.00001
NM_024422.6(DSC2):c.488C>T (p.Thr163Met) rs758759298 0.00001
NM_024422.6(DSC2):c.506T>C (p.Ile169Thr) rs1185834011 0.00001
NM_024422.6(DSC2):c.508T>C (p.Tyr170His) rs1484093917 0.00001
NM_024422.6(DSC2):c.509A>G (p.Tyr170Cys) rs759910399 0.00001
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu) rs766855728 0.00001
NM_024422.6(DSC2):c.537C>A (p.Asp179Glu) rs1987521149 0.00001
NM_024422.6(DSC2):c.540A>G (p.Gln180=) rs1291095173 0.00001
NM_024422.6(DSC2):c.549G>T (p.Arg183=) rs774025474 0.00001
NM_024422.6(DSC2):c.561T>C (p.Tyr187=) rs749063028 0.00001
NM_024422.6(DSC2):c.585G>A (p.Leu195=) rs912124448 0.00001
NM_024422.6(DSC2):c.608G>A (p.Arg203His) rs758527425 0.00001
NM_024422.6(DSC2):c.617A>G (p.Tyr206Cys) rs753004247 0.00001
NM_024422.6(DSC2):c.627T>C (p.Phe209=) rs754168300 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_024422.6(DSC2):c.631-3C>T rs1262481741 0.00001
NM_024422.6(DSC2):c.638C>T (p.Ala213Val) rs1299475740 0.00001
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala) rs755298693 0.00001
NM_024422.6(DSC2):c.687A>G (p.Leu229=) rs371192108 0.00001
NM_024422.6(DSC2):c.697A>G (p.Ile233Val) rs886039077 0.00001
NM_024422.6(DSC2):c.70-9A>G rs752022380 0.00001
NM_024422.6(DSC2):c.70A>G (p.Ile24Val) rs1228372400 0.00001
NM_024422.6(DSC2):c.746C>A (p.Thr249Asn) rs1987447409 0.00001
NM_024422.6(DSC2):c.775+8C>A rs757814061 0.00001
NM_024422.6(DSC2):c.777C>T (p.Gly259=) rs565694087 0.00001
NM_024422.6(DSC2):c.825G>A (p.Thr275=) rs767301887 0.00001
NM_024422.6(DSC2):c.836G>A (p.Arg279His) rs775614779 0.00001
NM_024422.6(DSC2):c.872C>T (p.Ser291Leu) rs755952123 0.00001
NM_024422.6(DSC2):c.880C>A (p.Leu294Ile) rs761796202 0.00001
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala) rs576466497 0.00001
NM_024422.6(DSC2):c.942+22C>G rs748709100 0.00001
NM_024422.6(DSC2):c.949G>A (p.Asp317Asn) rs769219956 0.00001
NM_024422.6(DSC2):c.975A>G (p.Val325=) rs1411764092 0.00001
NC_000018.10:g.(?_31068005)_(31070860_?)del
NC_000018.10:g.(?_31070706)_(31070870_?)del
NC_000018.9:g.(?_28647961)_(28681954_?)dup
NC_000018.9:g.(?_28647971)_(28673616_?)dup
NC_000018.9:g.(?_28647981)_(28681934_?)dup
NC_000018.9:g.(?_28654629)_(28673626_?)dup
NC_000018.9:g.(?_28673502)_(28673626_?)dup
NC_000018.9:g.(?_28673522)_(28673606_?)del
NC_000018.9:g.(?_28681846)_(28681934_?)del
NM_024422.6(DSC2):c.*1003T>C rs1986642855
NM_024422.6(DSC2):c.*1183G>A rs886053686
NM_024422.6(DSC2):c.*133G>A rs139923163
NM_024422.6(DSC2):c.*137A>G rs78190086
NM_024422.6(DSC2):c.*1453C>T rs886053683
NM_024422.6(DSC2):c.*1700T>C rs1986617619
NM_024422.6(DSC2):c.*1877T>G rs1986611103
NM_024422.6(DSC2):c.*422C>T rs769685892
NM_024422.6(DSC2):c.*692A>G rs1986657464
NM_024422.6(DSC2):c.*705G>A rs372988931
NM_024422.6(DSC2):c.*798T>C rs1208729636
NM_024422.6(DSC2):c.*926G>A rs1188292553
NM_024422.6(DSC2):c.1005A>G (p.Leu335=)
NM_024422.6(DSC2):c.1020T>G (p.Thr340=)
NM_024422.6(DSC2):c.1022G>T (p.Cys341Phe)
NM_024422.6(DSC2):c.1023dup (p.Ile342fs) rs768389941
NM_024422.6(DSC2):c.1025T>A (p.Ile342Asn)
NM_024422.6(DSC2):c.1027A>G (p.Ile343Val) rs1409325550
NM_024422.6(DSC2):c.1028T>C (p.Ile343Thr) rs1567978329
NM_024422.6(DSC2):c.1029T>C (p.Ile343=) rs1555639124
NM_024422.6(DSC2):c.1038T>C (p.Asp346=) rs2144821248
NM_024422.6(DSC2):c.1041T>C (p.Asp347=) rs758394251
NM_024422.6(DSC2):c.1053_1059del (p.His351fs) rs1373100329
NM_024422.6(DSC2):c.1054T>A (p.Leu352Met) rs2144821150
NM_024422.6(DSC2):c.1058C>T (p.Pro353Leu) rs1208688367
NM_024422.6(DSC2):c.1066A>T (p.Thr356Ser) rs2144821078
NM_024422.6(DSC2):c.106A>G (p.Thr36Ala) rs2144850401
NM_024422.6(DSC2):c.1072A>C (p.Thr358Pro)
NM_024422.6(DSC2):c.1073C>A (p.Thr358Asn) rs139399951
NM_024422.6(DSC2):c.1077+9A>G rs369381870
NM_024422.6(DSC2):c.1078-6T>G rs1555639038
NM_024422.6(DSC2):c.1078-7A>G rs781417647
NM_024422.6(DSC2):c.1095A>T (p.Glu365Asp)
NM_024422.6(DSC2):c.1102A>G (p.Thr368Ala) rs1598583223
NM_024422.6(DSC2):c.1105G>A (p.Val369Ile)
NM_024422.6(DSC2):c.110_114del (p.Leu37fs) rs2144850365
NM_024422.6(DSC2):c.1111G>A (p.Val371Met) rs1252791235
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.1134T>C (p.Val378=) rs921023156
NM_024422.6(DSC2):c.1140T>C (p.Asp380=) rs1252165791
NM_024422.6(DSC2):c.1145A>T (p.Asp382Val)
NM_024422.6(DSC2):c.114T>A (p.His38Gln) rs1987672342
NM_024422.6(DSC2):c.114T>C (p.His38=)
NM_024422.6(DSC2):c.1177T>G (p.Tyr393Asp)
NM_024422.6(DSC2):c.1187T>G (p.Leu396Ter)
NM_024422.6(DSC2):c.1187dup (p.Leu396fs)
NM_024422.6(DSC2):c.118C>A (p.Pro40Thr)
NM_024422.6(DSC2):c.1192G>A (p.Gly398Ser) rs1060502991
NM_024422.6(DSC2):c.1204G>T (p.Gly402Cys) rs1598583039
NM_024422.6(DSC2):c.1205G>T (p.Gly402Val)
NM_024422.6(DSC2):c.1215A>T (p.Lys405Asn) rs781472939
NM_024422.6(DSC2):c.1239T>A (p.Asn413Lys) rs765511398
NM_024422.6(DSC2):c.1239T>G (p.Asn413Lys) rs765511398
NM_024422.6(DSC2):c.123del (p.Lys42fs) rs1598592533
NM_024422.6(DSC2):c.1247T>C (p.Val416Ala)
NM_024422.6(DSC2):c.1255G>A (p.Val419Ile)
NM_024422.6(DSC2):c.1256T>C (p.Val419Ala)
NM_024422.6(DSC2):c.1260T>C (p.Val420=) rs2144818822
NM_024422.6(DSC2):c.1260del (p.Lys421fs)
NM_024422.6(DSC2):c.1263+12T>C
NM_024422.6(DSC2):c.1263+14A>T
NM_024422.6(DSC2):c.1263+19A>G
NM_024422.6(DSC2):c.1263+2dup rs1987243669
NM_024422.6(DSC2):c.1263+3_1263+4insG rs1987243436
NM_024422.6(DSC2):c.1263+5G>T
NM_024422.6(DSC2):c.1263+8_1263+10del rs2144818765
NM_024422.6(DSC2):c.1264-11T>G
NM_024422.6(DSC2):c.1264-15C>T rs1361768625
NM_024422.6(DSC2):c.1264-19A>G
NM_024422.6(DSC2):c.1264-1G>A rs2144814453
NM_024422.6(DSC2):c.1264C>T (p.Pro422Ser)
NM_024422.6(DSC2):c.1280A>G (p.Glu427Gly)
NM_024422.6(DSC2):c.1281A>C (p.Glu427Asp) rs1238451971
NM_024422.6(DSC2):c.1284G>A (p.Lys428=) rs1987176408
NM_024422.6(DSC2):c.1289A>G (p.Gln430Arg)
NM_024422.6(DSC2):c.128T>C (p.Leu43Pro)
NM_024422.6(DSC2):c.1290G>C (p.Gln430His) rs191461349
NM_024422.6(DSC2):c.1296C>G (p.Ile432Met)
NM_024422.6(DSC2):c.129A>G (p.Leu43=) rs1987671247
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val) rs763981974
NM_024422.6(DSC2):c.1312G>C (p.Val438Leu)
NM_024422.6(DSC2):c.1313T>C (p.Val438Ala)
NM_024422.6(DSC2):c.1316A>C (p.Asn439Thr)
NM_024422.6(DSC2):c.1317T>C (p.Asn439=) rs1987173870
NM_024422.6(DSC2):c.1321G>A (p.Ala441Thr) rs2144814171
NM_024422.6(DSC2):c.1321_1329del (p.Ala441_Phe443del) rs1987173347
NM_024422.6(DSC2):c.1323T>C (p.Ala441=) rs745795354
NM_024422.6(DSC2):c.1323T>G (p.Ala441=) rs745795354
NM_024422.6(DSC2):c.1324C>G (p.Pro442Ala)
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser) rs201480399
NM_024422.6(DSC2):c.1326A>G (p.Pro442=)
NM_024422.6(DSC2):c.133del (p.Ala45fs)
NM_024422.6(DSC2):c.1340C>G (p.Ala447Gly)
NM_024422.6(DSC2):c.1341_1355del (p.Ser448_Ala452del) rs1301674152
NM_024422.6(DSC2):c.1343G>A (p.Ser448Asn) rs778959850
NM_024422.6(DSC2):c.1344T>A (p.Ser448Arg)
NM_024422.6(DSC2):c.1345C>G (p.Pro449Ala)
NM_024422.6(DSC2):c.1346C>G (p.Pro449Arg) rs1394323673
NM_024422.6(DSC2):c.1350A>C (p.Arg450Ser) rs144242114
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1352C>T (p.Ser451Leu) rs794728068
NM_024422.6(DSC2):c.1358T>C (p.Met453Thr)
NM_024422.6(DSC2):c.1370_1371dup (p.Val458fs) rs1987170019
NM_024422.6(DSC2):c.1371A>G (p.Thr457=) rs1555638728
NM_024422.6(DSC2):c.1374T>A (p.Val458=) rs1295460147
NM_024422.6(DSC2):c.1396G>C (p.Asp466His)
NM_024422.6(DSC2):c.1405C>T (p.Pro469Ser) rs2144813745
NM_024422.6(DSC2):c.1418C>T (p.Pro473Leu) rs1987166340
NM_024422.6(DSC2):c.1424T>C (p.Ile475Thr) rs1022023137
NM_024422.6(DSC2):c.1427A>C (p.Gln476Pro)
NM_024422.6(DSC2):c.142C>G (p.Leu48Val) rs769776739
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe) rs769776739
NM_024422.6(DSC2):c.1430del (p.Thr477fs) rs397514041
NM_024422.6(DSC2):c.1436G>A (p.Arg479His) rs774641579
NM_024422.6(DSC2):c.1436G>T (p.Arg479Leu) rs774641579
NM_024422.6(DSC2):c.1446A>G (p.Glu482=)
NM_024422.6(DSC2):c.1452A>G (p.Ala484=) rs1555638690
NM_024422.6(DSC2):c.1466C>T (p.Thr489Ile)
NM_024422.6(DSC2):c.1470C>G (p.Ser490Arg) rs1237446574
NM_024422.6(DSC2):c.1475G>C (p.Gly492Ala)
NM_024422.6(DSC2):c.1477T>C (p.Tyr493His)
NM_024422.6(DSC2):c.1478A>G (p.Tyr493Cys) rs1987162049
NM_024422.6(DSC2):c.1486del (p.Tyr496fs) rs1987161799
NM_024422.6(DSC2):c.1494A>G (p.Pro498=)
NM_024422.6(DSC2):c.1505G>T (p.Ser502Ile)
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly) rs750965801
NM_024422.6(DSC2):c.1514G>A (p.Gly505Asp) rs1987160435
NM_024422.6(DSC2):c.1520+1G>A
NM_024422.6(DSC2):c.1520+20A>T
NM_024422.6(DSC2):c.1520+4C>T
NM_024422.6(DSC2):c.1521-11A>G
NM_024422.6(DSC2):c.1521-14A>G
NM_024422.6(DSC2):c.1521-23_1521-8del
NM_024422.6(DSC2):c.1523A>G (p.Tyr508Cys) rs1987155402
NM_024422.6(DSC2):c.154+15A>C
NM_024422.6(DSC2):c.154+2T>C rs747424133
NM_024422.6(DSC2):c.154+9G>A rs562001495
NM_024422.6(DSC2):c.1540C>G (p.Pro514Ala)
NM_024422.6(DSC2):c.1543A>G (p.Thr515Ala) rs771406828
NM_024422.6(DSC2):c.1547G>C (p.Gly516Ala)
NM_024422.6(DSC2):c.154G>A (p.Val52Ile)
NM_024422.6(DSC2):c.155-13A>G
NM_024422.6(DSC2):c.155-15G>A
NM_024422.6(DSC2):c.155-17G>A
NM_024422.6(DSC2):c.155-17G>T
NM_024422.6(DSC2):c.1552G>A (p.Val518Ile) rs397517394
NM_024422.6(DSC2):c.1556C>G (p.Thr519Ser)
NM_024422.6(DSC2):c.1557C>T (p.Thr519=) rs778658088
NM_024422.6(DSC2):c.155T>A (p.Val52Asp)
NM_024422.6(DSC2):c.155T>C (p.Val52Ala) rs1987629779
NM_024422.6(DSC2):c.1562A>C (p.Asp521Ala) rs1987152292
NM_024422.6(DSC2):c.1565A>C (p.Glu522Ala)
NM_024422.6(DSC2):c.1571C>G (p.Thr524Arg)
NM_024422.6(DSC2):c.1571del (p.Thr524fs) rs2144812824
NM_024422.6(DSC2):c.1575A>T (p.Gly525=)
NM_024422.6(DSC2):c.158A>T (p.Asn53Ile)
NM_024422.6(DSC2):c.1591A>G (p.Arg531Gly) rs727502981
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser) rs762973455
NM_024422.6(DSC2):c.1595G>A (p.Ser532Asn) rs1987150000
NM_024422.6(DSC2):c.1600G>A (p.Asp534Asn) rs1555638635
NM_024422.6(DSC2):c.1608G>A (p.Glu536=)
NM_024422.6(DSC2):c.1615A>G (p.Thr539Ala)
NM_024422.6(DSC2):c.1620C>A (p.Ile540=) rs765374888
NM_024422.6(DSC2):c.1620C>G (p.Ile540Met) rs765374888
NM_024422.6(DSC2):c.1620C>T (p.Ile540=)
NM_024422.6(DSC2):c.1647C>T (p.Val549=) rs2144812470
NM_024422.6(DSC2):c.1653A>G (p.Ala551=) rs1021990449
NM_024422.6(DSC2):c.1658A>G (p.Asp553Gly)
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter) rs878853170
NM_024422.6(DSC2):c.1661A>G (p.Gln554Arg) rs1987145211
NM_024422.6(DSC2):c.1663+9T>C
NM_024422.6(DSC2):c.1664-10A>G
NM_024422.6(DSC2):c.1664-17dup
NM_024422.6(DSC2):c.1664-19T>C
NM_024422.6(DSC2):c.1664-1G>C rs776877367
NM_024422.6(DSC2):c.1676G>A (p.Cys559Tyr) rs773866217
NM_024422.6(DSC2):c.1686A>C (p.Thr562=) rs1986964013
NM_024422.6(DSC2):c.168G>C (p.Glu56Asp) rs1555640202
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser) rs1986963426
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024422.6(DSC2):c.1707C>T (p.Asp569=) rs201517977
NM_024422.6(DSC2):c.1708G>A (p.Val570Met) rs992887444
NM_024422.6(DSC2):c.1715A>T (p.Asp572Val) rs1030017004
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp) rs1057518818
NM_024422.6(DSC2):c.171C>T (p.Cys57=)
NM_024422.6(DSC2):c.1720_1733del (p.Asn573_Ser574insTer) rs2144800227
NM_024422.6(DSC2):c.1728C>T (p.Phe576=) rs1458351294
NM_024422.6(DSC2):c.1730T>C (p.Ile577Thr) rs2144800248
NM_024422.6(DSC2):c.1731A>G (p.Ile577Met) rs2144800239
NM_024422.6(DSC2):c.1733C>T (p.Pro578Leu)
NM_024422.6(DSC2):c.1734T>G (p.Pro578=)
NM_024422.6(DSC2):c.1738A>G (p.Lys580Glu)
NM_024422.6(DSC2):c.173T>G (p.Phe58Cys)
NM_024422.6(DSC2):c.1741A>C (p.Thr581Pro) rs1266547190
NM_024422.6(DSC2):c.1744G>A (p.Val582Met)
NM_024422.6(DSC2):c.1745T>C (p.Val582Ala) rs1986959880
NM_024422.6(DSC2):c.1750A>G (p.Ile584Val) rs755041461
NM_024422.6(DSC2):c.1750A>T (p.Ile584Phe) rs755041461
NM_024422.6(DSC2):c.1752C>T (p.Ile584=)
NM_024422.6(DSC2):c.1762A>T (p.Thr588Ser)
NM_024422.6(DSC2):c.1765A>G (p.Met589Val) rs1442456553
NM_024422.6(DSC2):c.1766T>A (p.Met589Lys) rs201856473
NM_024422.6(DSC2):c.1780A>C (p.Ile594Leu) rs1365493039
NM_024422.6(DSC2):c.1780A>G (p.Ile594Val) rs1365493039
NM_024422.6(DSC2):c.1786G>C (p.Ala596Pro)
NM_024422.6(DSC2):c.1795C>G (p.Pro599Ala)
NM_024422.6(DSC2):c.180T>A (p.Ala60=) rs2144847012
NM_024422.6(DSC2):c.1811A>G (p.His604Arg)
NM_024422.6(DSC2):c.1812T>A (p.His604Gln) rs781010501
NM_024422.6(DSC2):c.1812T>C (p.His604=)
NM_024422.6(DSC2):c.1815C>T (p.Gly605=) rs770678394
NM_024422.6(DSC2):c.1824T>C (p.Phe608=)
NM_024422.6(DSC2):c.182C>G (p.Ala61Gly) rs758707293
NM_024422.6(DSC2):c.182C>T (p.Ala61Val)
NM_024422.6(DSC2):c.1830T>C (p.Phe610=) rs1986953386
NM_024422.6(DSC2):c.1833T>C (p.Ser611=) rs2144799607
NM_024422.6(DSC2):c.1837G>C (p.Glu613Gln) rs777716519
NM_024422.6(DSC2):c.1840A>G (p.Ser614Gly) rs1986952876
NM_024422.6(DSC2):c.1840_1841dup (p.Ser614fs) rs2144799555
NM_024422.6(DSC2):c.1846A>T (p.Thr616Ser) rs753887142
NM_024422.6(DSC2):c.1848T>A (p.Thr616=)
NM_024422.6(DSC2):c.1852G>A (p.Glu618Lys)
NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter) rs1986951516
NM_024422.6(DSC2):c.1867T>C (p.Trp623Arg)
NM_024422.6(DSC2):c.186T>A (p.Asn62Lys) rs748644229
NM_024422.6(DSC2):c.1875G>A (p.Leu625=) rs142594406
NM_024422.6(DSC2):c.1879G>A (p.Ala627Thr)
NM_024422.6(DSC2):c.1882A>G (p.Ile628Val) rs1986950360
NM_024422.6(DSC2):c.1888+1G>C rs1986950096
NM_024422.6(DSC2):c.1888+20G>A
NM_024422.6(DSC2):c.1888+2T>C
NM_024422.6(DSC2):c.1889-14A>G
NM_024422.6(DSC2):c.1889A>T (p.Asp630Val)
NM_024422.6(DSC2):c.1892C>A (p.Thr631Lys)
NM_024422.6(DSC2):c.1892C>T (p.Thr631Ile)
NM_024422.6(DSC2):c.189A>G (p.Leu63=) rs1347894973
NM_024422.6(DSC2):c.1907C>G (p.Ser636Cys) rs764355417
NM_024422.6(DSC2):c.1918G>A (p.Asp640Asn) rs267605146
NM_024422.6(DSC2):c.1920dup (p.Pro641fs) rs2144791672
NM_024422.6(DSC2):c.1932dup (p.Ser645fs) rs1448467079
NM_024422.6(DSC2):c.1934C>T (p.Ser645Leu) rs1339580561
NM_024422.6(DSC2):c.1935A>G (p.Ser645=) rs878855084
NM_024422.6(DSC2):c.1936T>A (p.Tyr646Asn)
NM_024422.6(DSC2):c.1938T>C (p.Tyr646=) rs397517395
NM_024422.6(DSC2):c.1939G>A (p.Val647Ile)
NM_024422.6(DSC2):c.1939del (p.Tyr646_Val647insTer) rs1986844120
NM_024422.6(DSC2):c.193C>G (p.His65Asp) rs2144846957
NM_024422.6(DSC2):c.1940T>C (p.Val647Ala) rs1986843978
NM_024422.6(DSC2):c.1956G>T (p.Val652=)
NM_024422.6(DSC2):c.1957A>G (p.Arg653Gly) rs1598573489
NM_024422.6(DSC2):c.1960G>A (p.Asp654Asn) rs1315556709
NM_024422.6(DSC2):c.1965A>G (p.Arg655=)
NM_024422.6(DSC2):c.1970G>T (p.Gly657Val) rs1986842583
NM_024422.6(DSC2):c.1977T>C (p.Ser659=) rs770010850
NM_024422.6(DSC2):c.1980T>C (p.Ser660=) rs1986841255
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly) rs778236763
NM_024422.6(DSC2):c.2010C>T (p.Asp670=)
NM_024422.6(DSC2):c.2012G>A (p.Cys671Tyr)
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) rs869025387
NM_024422.6(DSC2):c.2013C>T (p.Cys671=) rs2144791194
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val) rs375842356
NM_024422.6(DSC2):c.2032A>G (p.Thr678Ala)
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile) rs794728062
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser) rs757253682
NM_024422.6(DSC2):c.2038C>T (p.Arg680Cys) rs757253682
NM_024422.6(DSC2):c.2039G>A (p.Arg680His) rs374002111
NM_024422.6(DSC2):c.2045A>T (p.Asp682Val)
NM_024422.6(DSC2):c.2049A>C (p.Pro683=)
NM_024422.6(DSC2):c.2054T>C (p.Ile685Thr) rs1598573230
NM_024422.6(DSC2):c.2058C>T (p.Gly686=) rs1177700048
NM_024422.6(DSC2):c.2059G>C (p.Gly687Arg) rs199616533
NM_024422.6(DSC2):c.205C>A (p.Pro69Thr)
NM_024422.6(DSC2):c.2061T>C (p.Gly687=)
NM_024422.6(DSC2):c.2074C>A (p.Leu692Ile)
NM_024422.6(DSC2):c.2075T>C (p.Leu692Pro) rs1567972995
NM_024422.6(DSC2):c.2096C>A (p.Ala699Glu)
NM_024422.6(DSC2):c.2096C>T (p.Ala699Val) rs2144790608
NM_024422.6(DSC2):c.2097A>G (p.Ala699=)
NM_024422.6(DSC2):c.2098A>G (p.Ile700Val) rs1986830558
NM_024422.6(DSC2):c.2100_2102dup (p.Leu702dup) rs2144790582
NM_024422.6(DSC2):c.2102T>G (p.Leu701Trp)
NM_024422.6(DSC2):c.2103G>T (p.Leu701Phe)
NM_024422.6(DSC2):c.2106G>A (p.Leu702=)
NM_024422.6(DSC2):c.2108G>A (p.Gly703Asp)
NM_024422.6(DSC2):c.2110A>C (p.Ile704Leu) rs1986830020
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) rs1555637555
NM_024422.6(DSC2):c.2113G>A (p.Ala705Thr) rs1986829904
NM_024422.6(DSC2):c.2116T>C (p.Leu706=) rs1986829654
NM_024422.6(DSC2):c.211T>G (p.Phe71Val)
NM_024422.6(DSC2):c.2124T>C (p.Phe708=)
NM_024422.6(DSC2):c.2124T>G (p.Phe708Leu)
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2125+8T>C
NM_024422.6(DSC2):c.2125+9T>G rs1555637547
NM_024422.6(DSC2):c.2126-11_2126-8del rs1476161781
NM_024422.6(DSC2):c.2126-15dup
NM_024422.6(DSC2):c.2126-20A>C
NM_024422.6(DSC2):c.2126-4C>A rs2144788686
NM_024422.6(DSC2):c.2126-6C>T
NM_024422.6(DSC2):c.2136del (p.Phe712fs)
NM_024422.6(DSC2):c.2136dup (p.Thr713fs) rs2144788632
NM_024422.6(DSC2):c.2142G>A (p.Leu714=)
NM_024422.6(DSC2):c.2147G>A (p.Cys716Tyr) rs764008863
NM_024422.6(DSC2):c.2152del (p.Ala718fs) rs760915248
NM_024422.6(DSC2):c.2160G>C (p.Gly720=) rs2144788466
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys) rs759513934
NM_024422.6(DSC2):c.216A>C (p.Gln72His) rs767293228
NM_024422.6(DSC2):c.216A>G (p.Gln72=) rs767293228
NM_024422.6(DSC2):c.2175A>G (p.Pro725=)
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr) rs1422818892
NM_024422.6(DSC2):c.2186del (p.Pro729fs) rs1598572298
NM_024422.6(DSC2):c.2194T>C (p.Leu732=)
NM_024422.6(DSC2):c.2198C>T (p.Ala733Val) rs886053695
NM_024422.6(DSC2):c.2199C>T (p.Ala733=)
NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter) rs769022411
NM_024422.6(DSC2):c.2201A>G (p.Gln734Arg)
NM_024422.6(DSC2):c.2203C>T (p.Gln735Ter)
NM_024422.6(DSC2):c.2205G>T (p.Gln735His) rs886053694
NM_024422.6(DSC2):c.2217A>G (p.Val739=)
NM_024422.6(DSC2):c.2217A>T (p.Val739=)
NM_024422.6(DSC2):c.2218T>C (p.Ser740Pro) rs1555637438
NM_024422.6(DSC2):c.2229A>C (p.Glu743Asp) rs1380094242
NM_024422.6(DSC2):c.222G>T (p.Leu74Phe) rs2144846839
NM_024422.6(DSC2):c.2234C>T (p.Pro745Leu) rs2144788073
NM_024422.6(DSC2):c.2236G>A (p.Gly746Arg) rs1986795375
NM_024422.6(DSC2):c.2248G>A (p.Val750Met) rs753775769
NM_024422.6(DSC2):c.2250+14C>T
NM_024422.6(DSC2):c.2250+1G>C rs1986794200
NM_024422.6(DSC2):c.2250+2T>C rs1064793731
NM_024422.6(DSC2):c.2250+3A>G rs1555637433
NM_024422.6(DSC2):c.2251-19C>T
NM_024422.6(DSC2):c.2251-4T>C rs2144784611
NM_024422.6(DSC2):c.2251T>C (p.Tyr751His)
NM_024422.6(DSC2):c.2262T>C (p.Asn754=) rs2144784514
NM_024422.6(DSC2):c.2265C>T (p.Gly755=)
NM_024422.6(DSC2):c.2271A>G (p.Thr757=) rs2144784473
NM_024422.6(DSC2):c.2276A>C (p.Gln759Pro)
NM_024422.6(DSC2):c.2279C>G (p.Thr760Ser) rs1331111206
NM_024422.6(DSC2):c.2286C>T (p.Gly762=) rs549251334
NM_024422.6(DSC2):c.2288C>T (p.Ala763Val) rs1986739683
NM_024422.6(DSC2):c.2289T>A (p.Ala763=)
NM_024422.6(DSC2):c.2289T>C (p.Ala763=) rs1986739564
NM_024422.6(DSC2):c.229G>A (p.Gly77Ser)
NM_024422.6(DSC2):c.2304T>C (p.Val768=)
NM_024422.6(DSC2):c.2307T>A (p.Cys769Ter)
NM_024422.6(DSC2):c.2309G>A (p.Gly770Asp)
NM_024422.6(DSC2):c.230G>T (p.Gly77Val) rs761544006
NM_024422.6(DSC2):c.2319A>T (p.Gly773=) rs1986736902
NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys) rs866805043
NM_024422.6(DSC2):c.2347A>G (p.Thr783Ala)
NM_024422.6(DSC2):c.2352C>T (p.Ile784=) rs562571453
NM_024422.6(DSC2):c.2359G>A (p.Val787Met) rs1789053
NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr) rs1430547540
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2367A>T (p.Gly789=) rs886053693
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu) rs1555637241
NM_024422.6(DSC2):c.2373C>T (p.His791=)
NM_024422.6(DSC2):c.2375A>G (p.Gln792Arg)
NM_024422.6(DSC2):c.2377A>G (p.Thr793Ala)
NM_024422.6(DSC2):c.2379del (p.Ser794fs) rs2144783901
NM_024422.6(DSC2):c.2382G>C (p.Ser794=) rs761322462
NM_024422.6(DSC2):c.2383G>A (p.Glu795Lys)
NM_024422.6(DSC2):c.2384_2385inv (p.Glu795Val)
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu) rs61731921
NM_024422.6(DSC2):c.2394G>A (p.Arg798=) rs1986729754
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser) rs565136635
NM_024422.6(DSC2):c.2398del (p.Ala800fs) rs397517399
NM_024422.6(DSC2):c.2402G>A (p.Gly801Asp) rs1215462499
NM_024422.6(DSC2):c.2406C>T (p.His802=)
NM_024422.6(DSC2):c.2408A>C (p.His803Pro)
NM_024422.6(DSC2):c.240T>C (p.Tyr80=)
NM_024422.6(DSC2):c.2412C>A (p.His804Gln) rs1986728077
NM_024422.6(DSC2):c.2437C>T (p.His813Tyr) rs1402474064
NM_024422.6(DSC2):c.2438A>C (p.His813Pro) rs766881629
NM_024422.6(DSC2):c.2440A>T (p.Thr814Ser)
NM_024422.6(DSC2):c.2442G>C (p.Thr814=) rs750971227
NM_024422.6(DSC2):c.2444A>G (p.Glu815Gly) rs1473364512
NM_024422.6(DSC2):c.2451C>A (p.Asp817Glu) rs762214540
NM_024422.6(DSC2):c.2456G>A (p.Cys819Tyr) rs773961399
NM_024422.6(DSC2):c.2462A>G (p.Tyr821Cys) rs762627642
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter) rs1567971476
NM_024422.6(DSC2):c.2469C>T (p.Tyr823=) rs1393087393
NM_024422.6(DSC2):c.2484T>C (p.Ser828=)
NM_024422.6(DSC2):c.2487del (p.Phe829fs) rs794728073
NM_024422.6(DSC2):c.2497C>G (p.Arg833Gly) rs142410803
NM_024422.6(DSC2):c.2499T>A (p.Arg833=)
NM_024422.6(DSC2):c.2502T>C (p.Leu834=) rs1598570166
NM_024422.6(DSC2):c.2505T>G (p.Gly835=)
NM_024422.6(DSC2):c.2508+15G>A
NM_024422.6(DSC2):c.2508+17G>A
NM_024422.6(DSC2):c.2508+19C>A
NM_024422.6(DSC2):c.2508+20C>T
NM_024422.6(DSC2):c.2508+6T>C
NM_024422.6(DSC2):c.2509-11C>G rs1353395919
NM_024422.6(DSC2):c.2509-15T>A rs2144781524
NM_024422.6(DSC2):c.2509-19G>A
NM_024422.6(DSC2):c.2509-20_2509-18del
NM_024422.6(DSC2):c.2509-4G>A
NM_024422.6(DSC2):c.2514G>A (p.Val838=)
NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys) rs2144781456
NM_024422.6(DSC2):c.2522G>A (p.Cys841Tyr) rs2144781440
NM_024422.6(DSC2):c.2529A>C (p.Gln843His) rs2144781418
NM_024422.6(DSC2):c.2541C>T (p.His847=) rs1598569474
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) rs794728077
NM_024422.6(DSC2):c.254T>C (p.Ile85Thr)
NM_024422.6(DSC2):c.2559T>C (p.Tyr853=)
NM_024422.6(DSC2):c.255T>A (p.Ile85=) rs970871881
NM_024422.6(DSC2):c.255T>C (p.Ile85=)
NM_024422.6(DSC2):c.2562C>T (p.Val854=) rs1207984278
NM_024422.6(DSC2):c.2568A>G (p.Thr856=) rs1986693059
NM_024422.6(DSC2):c.2570_2573dup (p.Asn858delinsLysTer)
NM_024422.6(DSC2):c.2570_2574del (p.Tyr857fs) rs2144781196
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs) rs780970079
NM_024422.6(DSC2):c.2583_2587dup (p.Gly863fs) rs1986691422
NM_024422.6(DSC2):c.2589A>T (p.Gly863=)
NM_024422.6(DSC2):c.2597C>T (p.Ala866Val) rs760363798
NM_024422.6(DSC2):c.2597_2600del (p.Ala866fs) rs2144781031
NM_024422.6(DSC2):c.2606T>G (p.Val869Gly)
NM_024422.6(DSC2):c.2608G>T (p.Gly870Cys) rs1986689119
NM_024422.6(DSC2):c.2609G>A (p.Gly870Asp)
NM_024422.6(DSC2):c.2624G>T (p.Arg875Leu)
NM_024422.6(DSC2):c.2625A>G (p.Arg875=)
NM_024422.6(DSC2):c.2627A>T (p.Gln876Leu) rs1004351611
NM_024422.6(DSC2):c.2628A>G (p.Gln876=)
NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg) rs1986686862
NM_024422.6(DSC2):c.2639G>A (p.Gly880Glu)
NM_024422.6(DSC2):c.2640G>A (p.Gly880=) rs2144780787
NM_024422.6(DSC2):c.2644G>A (p.Glu882Lys) rs1352394486
NM_024422.6(DSC2):c.2646A>G (p.Glu882=) rs773604134
NM_024422.6(DSC2):c.264C>T (p.Ser88=) rs1435506924
NM_024422.6(DSC2):c.2664G>C (p.Glu888Asp) rs748675400
NM_024422.6(DSC2):c.2666C>A (p.Pro889His) rs2144780689
NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr) rs1060502988
NM_024422.6(DSC2):c.2684C>G (p.Ala895Gly) rs1986685195
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.268G>T (p.Glu90Ter) rs1987624232
NM_024422.6(DSC2):c.2693G>T (p.Cys898Phe)
NM_024422.6(DSC2):c.2695A>T (p.Met899Leu)
NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu) rs1986683368
NM_024422.6(DSC2):c.286A>T (p.Ile96Leu)
NM_024422.6(DSC2):c.288A>T (p.Ile96=)
NM_024422.6(DSC2):c.296C>A (p.Ser99Tyr)
NM_024422.6(DSC2):c.296C>T (p.Ser99Phe)
NM_024422.6(DSC2):c.301A>G (p.Thr101Ala) rs1372970572
NM_024422.6(DSC2):c.309C>A (p.Asn103Lys) rs1484070582
NM_024422.6(DSC2):c.311A>T (p.Gln104Leu) rs1987621652
NM_024422.6(DSC2):c.318G>T (p.Lys106Asn)
NM_024422.6(DSC2):c.324A>T (p.Lys108Asn)
NM_024422.6(DSC2):c.328T>C (p.Phe110Leu)
NM_024422.6(DSC2):c.332T>G (p.Val111Gly)
NM_024422.6(DSC2):c.337T>C (p.Leu113=) rs2144846288
NM_024422.6(DSC2):c.342G>A (p.Glu114=) rs1598591230
NM_024422.6(DSC2):c.346C>G (p.Gln116Glu) rs1987619959
NM_024422.6(DSC2):c.347A>C (p.Gln116Pro)
NM_024422.6(DSC2):c.354+10G>C rs1987618587
NM_024422.6(DSC2):c.354+12T>A
NM_024422.6(DSC2):c.354+15A>C rs1303672773
NM_024422.6(DSC2):c.354+16T>C
NM_024422.6(DSC2):c.354+3A>G
NM_024422.6(DSC2):c.354+7A>T
NM_024422.6(DSC2):c.354+9G>C rs1397580089
NM_024422.6(DSC2):c.355-10A>C
NM_024422.6(DSC2):c.355-10A>G
NM_024422.6(DSC2):c.355-12T>C rs1987585083
NM_024422.6(DSC2):c.355-18C>T rs1159494088
NM_024422.6(DSC2):c.355-1G>A rs2144843645
NM_024422.6(DSC2):c.355-9T>A
NM_024422.6(DSC2):c.355-9T>C rs925436741
NM_024422.6(DSC2):c.355G>A (p.Val119Ile) rs2144843633
NM_024422.6(DSC2):c.357C>T (p.Val119=) rs1452043194
NM_024422.6(DSC2):c.369A>G (p.Arg123=)
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.371A>G (p.His124Arg) rs794728061
NM_024422.6(DSC2):c.372T>C (p.His124=)
NM_024422.6(DSC2):c.378A>C (p.Lys126Asn)
NM_024422.6(DSC2):c.381A>G (p.Glu127=)
NM_024422.6(DSC2):c.393G>A (p.Arg131=)
NM_024422.6(DSC2):c.397G>C (p.Ala133Pro) rs200218585
NM_024422.6(DSC2):c.401A>G (p.Lys134Arg)
NM_024422.6(DSC2):c.413C>T (p.Ala138Val)
NM_024422.6(DSC2):c.428C>G (p.Ser143Trp)
NM_024422.6(DSC2):c.428C>T (p.Ser143Leu) rs769576778
NM_024422.6(DSC2):c.429G>C (p.Ser143=) rs542638302
NM_024422.6(DSC2):c.441C>T (p.Asn147=) rs2144843142
NM_024422.6(DSC2):c.443C>G (p.Ser148Cys)
NM_024422.6(DSC2):c.448G>T (p.Gly150Cys)
NM_024422.6(DSC2):c.453T>C (p.Pro151=)
NM_024422.6(DSC2):c.466C>T (p.Leu156Phe) rs2144843013
NM_024422.6(DSC2):c.471A>G (p.Gln157=) rs1367783973
NM_024422.6(DSC2):c.474+1G>T rs2144842978
NM_024422.6(DSC2):c.474+2T>A rs1430478589
NM_024422.6(DSC2):c.474+5C>G
NM_024422.6(DSC2):c.475-13A>G rs751631188
NM_024422.6(DSC2):c.475-5T>C rs1555639919
NM_024422.6(DSC2):c.488C>A (p.Thr163Lys) rs758759298
NM_024422.6(DSC2):c.500A>C (p.Tyr167Ser) rs1987523408
NM_024422.6(DSC2):c.503C>G (p.Thr168Ser)
NM_024422.6(DSC2):c.517A>G (p.Ile173Val) rs766855728
NM_024422.6(DSC2):c.525T>A (p.Gly175=)
NM_024422.6(DSC2):c.525T>C (p.Gly175=) rs541223771
NM_024422.6(DSC2):c.530G>C (p.Gly177Ala)
NM_024422.6(DSC2):c.545C>T (p.Pro182Leu)
NM_024422.6(DSC2):c.548G>A (p.Arg183Gln) rs554713834
NM_024422.6(DSC2):c.549G>A (p.Arg183=)
NM_024422.6(DSC2):c.549G>C (p.Arg183=) rs774025474
NM_024422.6(DSC2):c.555A>G (p.Leu185=) rs768367488
NM_024422.6(DSC2):c.559T>C (p.Tyr187His) rs1251921612
NM_024422.6(DSC2):c.562G>A (p.Val188Met)
NM_024422.6(DSC2):c.574A>C (p.Thr192Pro) rs876657789
NM_024422.6(DSC2):c.575C>T (p.Thr192Ile) rs2144838831
NM_024422.6(DSC2):c.577_624del (p.Gly193_Ser208del) rs767081975
NM_024422.6(DSC2):c.584T>C (p.Leu195Ser) rs876657787
NM_024422.6(DSC2):c.585G>C (p.Leu195Phe) rs912124448
NM_024422.6(DSC2):c.588T>C (p.Tyr196=) rs1987518239
NM_024422.6(DSC2):c.590G>T (p.Cys197Phe) rs2144838763
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys) rs142331975
NM_024422.6(DSC2):c.610G>A (p.Glu204Lys)
NM_024422.6(DSC2):c.619G>A (p.Glu207Lys) rs200634448
NM_024422.6(DSC2):c.621A>C (p.Glu207Asp) rs2144838603
NM_024422.6(DSC2):c.621A>G (p.Glu207=)
NM_024422.6(DSC2):c.629A>C (p.Glu210Ala)
NM_024422.6(DSC2):c.630+10A>G rs2144838541
NM_024422.6(DSC2):c.630+12A>G
NM_024422.6(DSC2):c.630+13del rs763577727
NM_024422.6(DSC2):c.630+19G>T rs750910749
NM_024422.6(DSC2):c.630+8C>A rs201147144
NM_024422.6(DSC2):c.631-10C>G rs745848441
NM_024422.6(DSC2):c.631-10C>T
NM_024422.6(DSC2):c.634A>G (p.Ile212Val)
NM_024422.6(DSC2):c.635T>C (p.Ile212Thr) rs1598587612
NM_024422.6(DSC2):c.637G>A (p.Ala213Thr) rs1987456031
NM_024422.6(DSC2):c.643G>A (p.Ala215Thr) rs1435574320
NM_024422.6(DSC2):c.647C>T (p.Thr216Ile) rs780448272
NM_024422.6(DSC2):c.648A>C (p.Thr216=)
NM_024422.6(DSC2):c.656A>T (p.Asp219Val) rs1047981208
NM_024422.6(DSC2):c.660G>T (p.Gly220=)
NM_024422.6(DSC2):c.665C>T (p.Thr222Ile) rs1987453864
NM_024422.6(DSC2):c.667C>T (p.Pro223Ser) rs762722282
NM_024422.6(DSC2):c.684C>A (p.Pro228=) rs2144833912
NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer) rs1209546374
NM_024422.6(DSC2):c.686del (p.Leu229fs)
NM_024422.6(DSC2):c.693C>A (p.Ile231=) rs776727405
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.70-18dup rs572309510
NM_024422.6(DSC2):c.70-20G>A rs374486794
NM_024422.6(DSC2):c.70-8dup rs1048960125
NM_024422.6(DSC2):c.702G>A (p.Glu234=) rs397517402
NM_024422.6(DSC2):c.70A>T (p.Ile24Phe)
NM_024422.6(DSC2):c.713A>G (p.Asp238Gly) rs2144833773
NM_024422.6(DSC2):c.715A>G (p.Asn239Asp) rs774551962
NM_024422.6(DSC2):c.719A>G (p.Tyr240Cys)
NM_024422.6(DSC2):c.721C>G (p.Pro241Ala) rs727505169
NM_024422.6(DSC2):c.721C>T (p.Pro241Ser) rs727505169
NM_024422.6(DSC2):c.729del (p.Phe243fs) rs2144833653
NM_024422.6(DSC2):c.72C>A (p.Ile24=) rs757826575
NM_024422.6(DSC2):c.734A>G (p.Glu245Gly) rs373201722
NM_024422.6(DSC2):c.739A>G (p.Thr247Ala) rs1567980622
NM_024422.6(DSC2):c.741T>C (p.Thr247=) rs1555639671
NM_024422.6(DSC2):c.741T>G (p.Thr247=) rs1555639671
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del) rs776784065
NM_024422.6(DSC2):c.744T>C (p.Tyr248=) rs756495155
NM_024422.6(DSC2):c.744_746delinsCAA (p.Thr249Asn) rs1987447561
NM_024422.6(DSC2):c.748T>A (p.Phe250Ile)
NM_024422.6(DSC2):c.748T>G (p.Phe250Val) rs111556656
NM_024422.6(DSC2):c.749T>C (p.Phe250Ser) rs746173561
NM_024422.6(DSC2):c.752C>A (p.Thr251Lys) rs1987446781
NM_024422.6(DSC2):c.754A>G (p.Ile252Val) rs751996698
NM_024422.6(DSC2):c.76A>G (p.Ile26Val)
NM_024422.6(DSC2):c.772G>A (p.Val258Met) rs1060502992
NM_024422.6(DSC2):c.774G>C (p.Val258=)
NM_024422.6(DSC2):c.775+11C>A
NM_024422.6(DSC2):c.775+18C>T
NM_024422.6(DSC2):c.775+3_775+6del
NM_024422.6(DSC2):c.776-13dup rs1987414584
NM_024422.6(DSC2):c.776-3T>C rs752192642
NM_024422.6(DSC2):c.776-5T>C
NM_024422.6(DSC2):c.776G>A (p.Gly259Asp) rs1335645459
NM_024422.6(DSC2):c.779C>G (p.Thr260Ser)
NM_024422.6(DSC2):c.779C>T (p.Thr260Ile)
NM_024422.6(DSC2):c.77del (p.Ile26fs) rs1555640399
NM_024422.6(DSC2):c.782C>T (p.Thr261Ile)
NM_024422.6(DSC2):c.799G>C (p.Ala267Pro) rs966660258
NM_024422.6(DSC2):c.802A>C (p.Thr268Pro) rs201015785
NM_024422.6(DSC2):c.807C>T (p.Asp269=)
NM_024422.6(DSC2):c.811G>A (p.Asp271Asn)
NM_024422.6(DSC2):c.812A>T (p.Asp271Val) rs1987412406
NM_024422.6(DSC2):c.813T>A (p.Asp271Glu)
NM_024422.6(DSC2):c.826A>G (p.Met276Val)
NM_024422.6(DSC2):c.832A>G (p.Thr278Ala)
NM_024422.6(DSC2):c.834A>G (p.Thr278=) rs2144830763
NM_024422.6(DSC2):c.841A>C (p.Lys281Gln) rs373697870
NM_024422.6(DSC2):c.844T>C (p.Tyr282His) rs397517405
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.847T>C (p.Ser283Pro)
NM_024422.6(DSC2):c.848C>G (p.Ser283Cys) rs2144830674
NM_024422.6(DSC2):c.853A>G (p.Ile285Val)
NM_024422.6(DSC2):c.858G>C (p.Gly286=)
NM_024422.6(DSC2):c.865C>G (p.Pro289Ala) rs200802591
NM_024422.6(DSC2):c.869C>T (p.Pro290Leu)
NM_024422.6(DSC2):c.877A>G (p.Thr293Ala)
NM_024422.6(DSC2):c.879C>A (p.Thr293=) rs1394417853
NM_024422.6(DSC2):c.880del (p.Leu294fs) rs1451144520
NM_024422.6(DSC2):c.882A>G (p.Leu294=)
NM_024422.6(DSC2):c.882dup (p.Phe295fs) rs1060502989
NM_024422.6(DSC2):c.906C>T (p.Gly302=) rs776857618
NM_024422.6(DSC2):c.915C>T (p.Thr305=) rs1429668963
NM_024422.6(DSC2):c.927T>C (p.Ser309=) rs1434821927
NM_024422.6(DSC2):c.928C>G (p.Gln310Glu)
NM_024422.6(DSC2):c.929A>G (p.Gln310Arg)
NM_024422.6(DSC2):c.929delinsTT (p.Gln310fs)
NM_024422.6(DSC2):c.938G>A (p.Arg313Lys)
NM_024422.6(DSC2):c.940G>A (p.Glu314Lys)
NM_024422.6(DSC2):c.942+11C>A
NM_024422.6(DSC2):c.942+11_942+13dup
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024422.6(DSC2):c.942+14_942+15insTTG rs2144830055
NM_024422.6(DSC2):c.942+21A>T
NM_024422.6(DSC2):c.942+23C>A
NM_024422.6(DSC2):c.942+5C>T rs2144830111
NM_024422.6(DSC2):c.942+8A>C rs1475176981
NM_024422.6(DSC2):c.942+9A>G
NM_024422.6(DSC2):c.943-17T>A
NM_024422.6(DSC2):c.943-3C>T
NM_024422.6(DSC2):c.943-9dup rs1987283946
NM_024422.6(DSC2):c.943T>C (p.Leu315=) rs2144821693
NM_024422.6(DSC2):c.945A>G (p.Leu315=) rs971660963
NM_024422.6(DSC2):c.946A>T (p.Ile316Phe) rs1233598092
NM_024422.6(DSC2):c.959A>C (p.Gln320Pro) rs1481724064
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_024422.6(DSC2):c.973G>A (p.Val325Ile)
NM_024422.6(DSC2):c.975A>C (p.Val325=)
NM_024422.6(DSC2):c.978A>G (p.Gln326=) rs1598583853
NM_024422.6(DSC2):c.983T>A (p.Met328Lys) rs1987280810
NM_024422.6(DSC2):c.986A>G (p.Asp329Gly)
NM_024422.6(DSC2):c.990T>G (p.Gly330=) rs1396481707
NM_024422.6(DSC2):c.991C>T (p.Gln331Ter)
NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter) rs1555639134

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