ClinVar Miner

List of variants in gene DNA2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 819
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001080449.3(DNA2):c.1416-224A>G rs10823196 0.99654
NM_001080449.3(DNA2):c.1416-241T>A rs45479700 0.37346
NM_001080449.3(DNA2):c.1984-278A>C rs10998159 0.31042
NM_001080449.3(DNA2):c.1058-147A>G rs7902170 0.30138
NM_001080449.3(DNA2):c.1220+162C>A rs4237318 0.29685
NM_001080449.3(DNA2):c.74+215G>C rs2281699 0.29121
NM_001080449.3(DNA2):c.507C>A (p.Ala169=) rs3758626 0.28903
NM_001080449.3(DNA2):c.258-186A>G rs10998206 0.28826
NM_001080449.3(DNA2):c.*89A>T rs1801041 0.28283
NM_001080449.3(DNA2):c.2698-64G>C rs7912227 0.25707
NM_001080449.3(DNA2):c.939+137T>C rs7911862 0.25401
NM_001080449.3(DNA2):c.-80T>C rs1535539 0.21790
NM_001080449.3(DNA2):c.940-220A>G rs10998173 0.20768
NM_001080449.3(DNA2):c.1646+188A>G rs4746769 0.17842
NM_001080449.3(DNA2):c.1058-199G>A rs7916974 0.16188
NM_001080449.3(DNA2):c.719+301T>C rs10998197 0.15389
NM_001080449.3(DNA2):c.1416-117C>T rs12775711 0.15200
NM_001080449.3(DNA2):c.2698-97A>C rs7897488 0.14867
NM_001080449.3(DNA2):c.1220+305A>G rs4237317 0.14182
NM_001080449.3(DNA2):c.940-306A>C rs10998174 0.12920
NM_001080449.3(DNA2):c.2208+259T>C rs10823195 0.12759
NM_001080449.3(DNA2):c.74+136C>T rs11818335 0.11163
NM_001080449.3(DNA2):c.2208+38T>C rs12221039 0.08644
NM_001080449.3(DNA2):c.357G>A (p.Leu119=) rs10998205 0.08483
NM_001080449.3(DNA2):c.939+186_939+202del rs59391479 0.08131
NM_001080449.3(DNA2):c.2788-156T>A rs10998150 0.07671
NM_001080449.3(DNA2):c.2209-33G>A rs10998153 0.07564
NM_001080449.3(DNA2):c.74+244C>T rs72797524 0.04128
NM_001080449.3(DNA2):c.1415+107C>T rs79887385 0.03830
NM_001080449.3(DNA2):c.1058-312C>T rs61855131 0.03723
NM_001080449.3(DNA2):c.1058-320dup rs199936249 0.03712
NM_001080449.3(DNA2):c.1971G>A (p.Thr657=) rs61855090 0.03682
NM_001080449.3(DNA2):c.1220+182T>C rs138407138 0.03639
NM_001080449.3(DNA2):c.2967+70G>A rs141948096 0.03178
NM_001080449.3(DNA2):c.2782G>A (p.Val928Ile) rs75569266 0.03176
NM_001080449.3(DNA2):c.2968-269C>T rs114133743 0.03018
NM_001080449.3(DNA2):c.940-98T>G rs77178607 0.02787
NM_001080449.3(DNA2):c.2208+129C>T rs115919476 0.02765
NM_001080449.3(DNA2):c.1647-34C>T rs114589128 0.02750
NM_001080449.3(DNA2):c.1647-342C>T rs79463331 0.02748
NM_001080449.3(DNA2):c.1362G>A (p.Ser454=) rs74537378 0.02747
NM_001080449.3(DNA2):c.2209-278G>T rs181567055 0.02707
NM_001080449.3(DNA2):c.587+127C>G rs76236637 0.02647
NM_001080449.3(DNA2):c.258-79T>A rs74632734 0.02640
NM_001080449.3(DNA2):c.258-58C>T rs75160789 0.02639
NM_001080449.3(DNA2):c.888G>A (p.Pro296=) rs16925390 0.01237
NM_001080449.3(DNA2):c.1058-115G>A rs116034545 0.00931
NM_001080449.3(DNA2):c.1899G>A (p.Ala633=) rs116704917 0.00869
NM_001080449.3(DNA2):c.939+81G>A rs7912091 0.00854
NM_001080449.3(DNA2):c.939+200C>T rs188115109 0.00735
NM_001080449.3(DNA2):c.442-130A>T rs146014341 0.00730
NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser) rs141731085 0.00726
NM_001080449.3(DNA2):c.1058-306C>G rs144840488 0.00691
NM_001080449.3(DNA2):c.939+263A>G rs148286330 0.00690
NM_001080449.3(DNA2):c.295T>C (p.Leu99=) rs140077857 0.00675
NM_001080449.3(DNA2):c.442-39_442-38del rs200481479 0.00655
NM_001080449.3(DNA2):c.719+263G>A rs143432064 0.00655
NM_001080449.3(DNA2):c.491A>G (p.Glu164Gly) rs114788132 0.00581
NM_001080449.3(DNA2):c.588-238T>A rs147214403 0.00578
NM_001080449.3(DNA2):c.1983+285C>T rs115348257 0.00518
NM_001080449.3(DNA2):c.1221-245C>T rs77444626 0.00485
NM_001080449.3(DNA2):c.2713C>A (p.Gln905Lys) rs181679245 0.00459
NM_001080449.3(DNA2):c.74+111C>A rs115640956 0.00430
NM_001080449.3(DNA2):c.2153G>T (p.Cys718Phe) rs147096750 0.00367
NM_001080449.3(DNA2):c.1415+59C>T rs550225061 0.00337
NM_001080449.3(DNA2):c.720G>T (p.Leu240=) rs199878321 0.00242
NM_001080449.3(DNA2):c.940-24G>A rs144413502 0.00207
NM_001080449.3(DNA2):c.2212A>G (p.Ile738Val) rs149606167 0.00177
NM_001080449.3(DNA2):c.1585G>T (p.Ala529Ser) rs187660163 0.00158
NM_001080449.3(DNA2):c.68C>T (p.Ala23Val) rs200467869 0.00071
NM_001080449.3(DNA2):c.1796G>A (p.Arg599His) rs201999986 0.00068
NM_001080449.3(DNA2):c.1795C>T (p.Arg599Cys) rs201377109 0.00053
NM_001080449.3(DNA2):c.1476T>C (p.Cys492=) rs373089726 0.00051
NM_001080449.3(DNA2):c.2697+18T>C rs190301454 0.00040
NM_001080449.3(DNA2):c.1997A>T (p.Tyr666Phe) rs201370052 0.00029
NM_001080449.3(DNA2):c.441+13A>G rs369850332 0.00027
NM_001080449.3(DNA2):c.493G>T (p.Val165Leu) rs368117469 0.00026
NM_001080449.3(DNA2):c.1647-9T>C rs373847612 0.00016
NM_001080449.3(DNA2):c.2473G>A (p.Val825Met) rs201513130 0.00014
NM_001080449.3(DNA2):c.2492+4T>C rs2273904 0.00014
NM_001080449.3(DNA2):c.287T>C (p.Ile96Thr) rs373811580 0.00014
NM_001080449.3(DNA2):c.995T>G (p.Leu332Trp) rs773057527 0.00012
NM_001080449.3(DNA2):c.2618A>G (p.Tyr873Cys) rs200309792 0.00011
NM_001080449.3(DNA2):c.2826G>A (p.Pro942=) rs200956547 0.00011
NM_001080449.3(DNA2):c.932G>A (p.Arg311His) rs191433666 0.00011
NM_001080449.3(DNA2):c.194G>A (p.Arg65His) rs182312393 0.00010
NM_001080449.3(DNA2):c.179G>A (p.Gly60Glu) rs201396965 0.00009
NM_001080449.3(DNA2):c.1880A>G (p.Asn627Ser) rs376585293 0.00009
NM_001080449.3(DNA2):c.264T>C (p.Ser88=) rs749078276 0.00009
NM_001080449.3(DNA2):c.2706G>A (p.Ala902=) rs371684850 0.00009
NM_001080449.3(DNA2):c.752G>A (p.Cys251Tyr) rs190693225 0.00009
NM_001080449.3(DNA2):c.1763+14A>C rs544079864 0.00007
NM_001080449.3(DNA2):c.1763+20T>G rs182122089 0.00006
NM_001080449.3(DNA2):c.1808T>C (p.Phe603Ser) rs778309817 0.00006
NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile) rs746522359 0.00006
NM_001080449.3(DNA2):c.199G>C (p.Val67Leu) rs180752832 0.00006
NM_001080449.3(DNA2):c.1823G>A (p.Ser608Asn) rs372702219 0.00005
NM_001080449.3(DNA2):c.2697+13A>T rs754786012 0.00005
NM_001080449.3(DNA2):c.2697+14T>A rs746777672 0.00005
NM_001080449.3(DNA2):c.460C>T (p.Arg154Cys) rs752518307 0.00005
NM_001080449.3(DNA2):c.1677G>A (p.Leu559=) rs769027938 0.00004
NM_001080449.3(DNA2):c.1873+16C>T rs747695993 0.00004
NM_001080449.3(DNA2):c.1897G>T (p.Ala633Ser) rs763355093 0.00004
NM_001080449.3(DNA2):c.1939G>A (p.Val647Met) rs1064793617 0.00004
NM_001080449.3(DNA2):c.2705C>T (p.Ala902Val) rs746828357 0.00004
NM_001080449.3(DNA2):c.2825C>T (p.Pro942Leu) rs868452137 0.00004
NM_001080449.3(DNA2):c.522T>C (p.Phe174=) rs372526518 0.00004
NM_001080449.3(DNA2):c.653G>A (p.Cys218Tyr) rs571505621 0.00004
NM_001080449.3(DNA2):c.712C>G (p.Leu238Val) rs774208232 0.00004
NM_001080449.3(DNA2):c.75-9G>A rs367999500 0.00004
NM_001080449.3(DNA2):c.857G>A (p.Arg286Gln) rs557583178 0.00004
NM_001080449.3(DNA2):c.1057+8C>T rs369805809 0.00003
NM_001080449.3(DNA2):c.1102C>T (p.Arg368Cys) rs555751651 0.00003
NM_001080449.3(DNA2):c.1116T>C (p.Ser372=) rs368778086 0.00003
NM_001080449.3(DNA2):c.1220+18A>G rs1169483673 0.00003
NM_001080449.3(DNA2):c.1898C>T (p.Ala633Val) rs773532624 0.00003
NM_001080449.3(DNA2):c.2093G>A (p.Arg698His) rs367905585 0.00003
NM_001080449.3(DNA2):c.2403-7T>C rs372878525 0.00003
NM_001080449.3(DNA2):c.452C>T (p.Pro151Leu) rs369206536 0.00003
NM_001080449.3(DNA2):c.768G>A (p.Val256=) rs766188194 0.00003
NM_001080449.3(DNA2):c.90G>A (p.Val30=) rs376901918 0.00003
NM_001080449.3(DNA2):c.1221-13A>G rs59031291 0.00002
NM_001080449.3(DNA2):c.1415+16A>C rs751137634 0.00002
NM_001080449.3(DNA2):c.1485A>G (p.Gln495=) rs368855073 0.00002
NM_001080449.3(DNA2):c.152C>T (p.Ala51Val) rs773427416 0.00002
NM_001080449.3(DNA2):c.1687G>A (p.Asp563Asn) rs375082819 0.00002
NM_001080449.3(DNA2):c.186_187dup (p.Glu63fs) rs777604935 0.00002
NM_001080449.3(DNA2):c.215A>G (p.Gln72Arg) rs760726047 0.00002
NM_001080449.3(DNA2):c.2230A>G (p.Met744Val) rs771075304 0.00002
NM_001080449.3(DNA2):c.592C>T (p.Arg198Cys) rs376070435 0.00002
NM_001080449.3(DNA2):c.906C>G (p.Gly302=) rs774562797 0.00002
NM_001080449.3(DNA2):c.931C>T (p.Arg311Cys) rs1327659671 0.00002
NM_001080449.3(DNA2):c.1010A>G (p.Lys337Arg) rs768224651 0.00001
NM_001080449.3(DNA2):c.1078C>A (p.Gln360Lys) rs1317601492 0.00001
NM_001080449.3(DNA2):c.108A>G (p.Arg36=) rs750147147 0.00001
NM_001080449.3(DNA2):c.1091C>T (p.Ser364Leu) rs777907327 0.00001
NM_001080449.3(DNA2):c.123A>T (p.Thr41=) rs781308142 0.00001
NM_001080449.3(DNA2):c.1382A>G (p.His461Arg) rs768612249 0.00001
NM_001080449.3(DNA2):c.1392C>G (p.Ile464Met) rs374387690 0.00001
NM_001080449.3(DNA2):c.1415+8G>A rs564046796 0.00001
NM_001080449.3(DNA2):c.1503A>G (p.Gln501=) rs556056148 0.00001
NM_001080449.3(DNA2):c.163G>A (p.Val55Ile) rs2052367938 0.00001
NM_001080449.3(DNA2):c.1719C>T (p.Thr573=) rs1295862594 0.00001
NM_001080449.3(DNA2):c.1728A>T (p.Gly576=) rs2051835489 0.00001
NM_001080449.3(DNA2):c.1754C>T (p.Thr585Met) rs374807258 0.00001
NM_001080449.3(DNA2):c.1774C>T (p.Arg592Ter) rs780946555 0.00001
NM_001080449.3(DNA2):c.1893G>A (p.Arg631=) rs766576587 0.00001
NM_001080449.3(DNA2):c.1983+15C>A rs992336938 0.00001
NM_001080449.3(DNA2):c.2257C>T (p.Arg753Cys) rs761223121 0.00001
NM_001080449.3(DNA2):c.2327T>C (p.Leu776Pro) rs866149439 0.00001
NM_001080449.3(DNA2):c.232G>T (p.Glu78Ter) rs1421904895 0.00001
NM_001080449.3(DNA2):c.2339G>A (p.Arg780Gln) rs774303899 0.00001
NM_001080449.3(DNA2):c.2362C>T (p.His788Tyr) rs748556014 0.00001
NM_001080449.3(DNA2):c.240C>A (p.Cys80Ter) rs1427017563 0.00001
NM_001080449.3(DNA2):c.2787+16C>T rs765347492 0.00001
NM_001080449.3(DNA2):c.27G>A (p.Leu9=) rs1211027535 0.00001
NM_001080449.3(DNA2):c.2815A>G (p.Ile939Val) rs1307693916 0.00001
NM_001080449.3(DNA2):c.2867G>A (p.Arg956His) rs747301191 0.00001
NM_001080449.3(DNA2):c.2872A>G (p.Ile958Val) rs575412271 0.00001
NM_001080449.3(DNA2):c.2943T>C (p.Phe981=) rs538200699 0.00001
NM_001080449.3(DNA2):c.2967T>C (p.Thr989=) rs201688598 0.00001
NM_001080449.3(DNA2):c.2979C>A (p.Leu993=) rs752215051 0.00001
NM_001080449.3(DNA2):c.3037C>T (p.Leu1013Phe) rs532598495 0.00001
NM_001080449.3(DNA2):c.403C>T (p.Arg135Ter) rs769474497 0.00001
NM_001080449.3(DNA2):c.437T>G (p.Phe146Cys) rs1455412261 0.00001
NM_001080449.3(DNA2):c.441+15C>T rs558303170 0.00001
NM_001080449.3(DNA2):c.593G>A (p.Arg198His) rs1272393477 0.00001
NM_001080449.3(DNA2):c.677A>G (p.His226Arg) rs761165705 0.00001
NM_001080449.3(DNA2):c.679A>G (p.Lys227Glu) rs760412883 0.00001
NM_001080449.3(DNA2):c.765C>T (p.Val255=) rs1310938652 0.00001
NM_001080449.3(DNA2):c.796T>G (p.Trp266Gly) rs772440931 0.00001
NC_000010.10:g.(?_70174796)_(70174884_?)del
NC_000010.10:g.(?_70174796)_(70176632_?)del
NC_000010.10:g.(?_70174796)_(70231621_?)dup
NC_000010.10:g.(?_70176446)_(70192287_?)dup
NC_000010.10:g.(?_70182373)_(70187737_?)del
NC_000010.10:g.(?_70202654)_(70231621_?)dup
NC_000010.10:g.(?_70204658)_(70206190_?)del
NC_000010.10:g.(?_70206033)_(70206190_?)del
NC_000010.10:g.(?_70209765)_(70210024_?)del
NC_000010.10:g.(?_70209765)_(70210024_?)dup
NC_000010.10:g.(?_70209765)_(70231621_?)dup
NC_000010.10:g.(?_70218841)_(70225589_?)del
NC_000010.10:g.(?_70225404)_(70225589_?)del
NC_000010.10:g.(?_70225404)_(70231621_?)dup
NC_000010.11:g.68422603CT[1]
NM_001080449.3(DNA2):c.*202del rs529121415
NM_001080449.3(DNA2):c.1002C>T (p.Leu334=)
NM_001080449.3(DNA2):c.1031T>C (p.Val344Ala)
NM_001080449.3(DNA2):c.1032G>T (p.Val344=)
NM_001080449.3(DNA2):c.1037C>T (p.Ala346Val) rs993656120
NM_001080449.3(DNA2):c.103C>A (p.Pro35Thr)
NM_001080449.3(DNA2):c.1041C>T (p.Asn347=)
NM_001080449.3(DNA2):c.1042del (p.His348fs)
NM_001080449.3(DNA2):c.104C>A (p.Pro35Gln)
NM_001080449.3(DNA2):c.1057+10T>C
NM_001080449.3(DNA2):c.1057+10T>G
NM_001080449.3(DNA2):c.1057+125dup rs61316500
NM_001080449.3(DNA2):c.1057+15T>C
NM_001080449.3(DNA2):c.1057+18_1057+19dup
NM_001080449.3(DNA2):c.1057+19T>C
NM_001080449.3(DNA2):c.1057+19del rs34922453
NM_001080449.3(DNA2):c.1057+19dup rs34922453
NM_001080449.3(DNA2):c.1057+1G>A
NM_001080449.3(DNA2):c.1057+20A>T
NM_001080449.3(DNA2):c.1057+5A>T
NM_001080449.3(DNA2):c.1057+9G>A
NM_001080449.3(DNA2):c.1057+9G>T rs757243525
NM_001080449.3(DNA2):c.1058-13dup rs201474338
NM_001080449.3(DNA2):c.1058-4A>G
NM_001080449.3(DNA2):c.1058-5del
NM_001080449.3(DNA2):c.1058-5dup
NM_001080449.3(DNA2):c.1058-6T>C
NM_001080449.3(DNA2):c.1058-6del rs201474338
NM_001080449.3(DNA2):c.1059A>T (p.Glu353Asp)
NM_001080449.3(DNA2):c.1063T>A (p.Leu355Ile) rs2133402726
NM_001080449.3(DNA2):c.1080G>A (p.Gln360=)
NM_001080449.3(DNA2):c.1094T>C (p.Leu365Ser)
NM_001080449.3(DNA2):c.1097T>C (p.Phe366Ser)
NM_001080449.3(DNA2):c.1100A>G (p.His367Arg)
NM_001080449.3(DNA2):c.1103G>A (p.Arg368His)
NM_001080449.3(DNA2):c.1105A>G (p.Ile369Val)
NM_001080449.3(DNA2):c.1110C>T (p.Ser370=)
NM_001080449.3(DNA2):c.1122T>C (p.Thr374=) rs766320943
NM_001080449.3(DNA2):c.1124G>T (p.Arg375Ile) rs758659575
NM_001080449.3(DNA2):c.1127A>G (p.Gln376Arg)
NM_001080449.3(DNA2):c.1135C>A (p.Gln379Lys)
NM_001080449.3(DNA2):c.1141G>A (p.Ala381Thr)
NM_001080449.3(DNA2):c.1151C>G (p.Pro384Arg)
NM_001080449.3(DNA2):c.1155A>G (p.Gln385=) rs530452383
NM_001080449.3(DNA2):c.1160T>C (p.Ile387Thr)
NM_001080449.3(DNA2):c.1167A>G (p.Glu389=)
NM_001080449.3(DNA2):c.1175C>G (p.Thr392Ser)
NM_001080449.3(DNA2):c.1184A>G (p.Tyr395Cys)
NM_001080449.3(DNA2):c.1185T>C (p.Tyr395=)
NM_001080449.3(DNA2):c.1189T>C (p.Ser397Pro)
NM_001080449.3(DNA2):c.1193A>C (p.Gln398Pro)
NM_001080449.3(DNA2):c.1199G>A (p.Gly400Asp)
NM_001080449.3(DNA2):c.1202A>G (p.Asn401Ser)
NM_001080449.3(DNA2):c.1203T>C (p.Asn401=)
NM_001080449.3(DNA2):c.1208C>T (p.Ala403Val)
NM_001080449.3(DNA2):c.1213T>C (p.Tyr405His) rs2133402393
NM_001080449.3(DNA2):c.1218C>T (p.Ser406=)
NM_001080449.3(DNA2):c.1220+13T>C
NM_001080449.3(DNA2):c.1220+179dup rs11356540
NM_001080449.3(DNA2):c.1220+195del rs11356540
NM_001080449.3(DNA2):c.1220+2T>C rs2133402353
NM_001080449.3(DNA2):c.1220+7A>T
NM_001080449.3(DNA2):c.1221-15G>A
NM_001080449.3(DNA2):c.1221-8A>G
NM_001080449.3(DNA2):c.1223C>T (p.Ala408Val)
NM_001080449.3(DNA2):c.1228G>A (p.Glu410Lys)
NM_001080449.3(DNA2):c.1233A>G (p.Gln411=)
NM_001080449.3(DNA2):c.1244del (p.Cys415fs)
NM_001080449.3(DNA2):c.1247G>A (p.Ser416Asn) rs1590062115
NM_001080449.3(DNA2):c.1252_1257del (p.Val418_Pro419del) rs2133398459
NM_001080449.3(DNA2):c.1258A>G (p.Ile420Val)
NM_001080449.3(DNA2):c.1266G>A (p.Met422Ile)
NM_001080449.3(DNA2):c.1269G>C (p.Leu423=)
NM_001080449.3(DNA2):c.1271C>T (p.Pro424Leu)
NM_001080449.3(DNA2):c.1279GAA[2] (p.Glu429del)
NM_001080449.3(DNA2):c.1289C>T (p.Thr430Ile)
NM_001080449.3(DNA2):c.1291C>T (p.Gln431Ter)
NM_001080449.3(DNA2):c.1310A>C (p.His437Pro)
NM_001080449.3(DNA2):c.1323C>T (p.Phe441=)
NM_001080449.3(DNA2):c.1326C>T (p.Ser442=)
NM_001080449.3(DNA2):c.1336C>T (p.Leu446=)
NM_001080449.3(DNA2):c.1346C>G (p.Thr449Ser) rs201624435
NM_001080449.3(DNA2):c.1346C>T (p.Thr449Ile)
NM_001080449.3(DNA2):c.1361C>A (p.Ser454Ter)
NM_001080449.3(DNA2):c.1363A>C (p.Lys455Gln)
NM_001080449.3(DNA2):c.1368T>C (p.Asp456=)
NM_001080449.3(DNA2):c.136C>T (p.Arg46Trp)
NM_001080449.3(DNA2):c.1370A>G (p.Asn457Ser)
NM_001080449.3(DNA2):c.1372A>G (p.Lys458Glu)
NM_001080449.3(DNA2):c.1386A>G (p.Gln462=)
NM_001080449.3(DNA2):c.1388A>G (p.Asn463Ser)
NM_001080449.3(DNA2):c.1388del (p.Asn463fs) rs2133398004
NM_001080449.3(DNA2):c.1392C>A (p.Ile464=)
NM_001080449.3(DNA2):c.1399A>T (p.Met467Leu)
NM_001080449.3(DNA2):c.1410G>A (p.Ser470=)
NM_001080449.3(DNA2):c.1414A>G (p.Met472Val)
NM_001080449.3(DNA2):c.1415+3A>C
NM_001080449.3(DNA2):c.1416-11T>C rs1345473976
NM_001080449.3(DNA2):c.1416-188A>T rs7098595
NM_001080449.3(DNA2):c.1416-20T>C
NM_001080449.3(DNA2):c.1416-242_1416-241insTG rs199644805
NM_001080449.3(DNA2):c.1416-242_1416-241insTTG rs1554905593
NM_001080449.3(DNA2):c.1416-246_1416-244dup rs764493127
NM_001080449.3(DNA2):c.1416-246_1416-245dup rs764493127
NM_001080449.3(DNA2):c.1416-247A>G rs10998164
NM_001080449.3(DNA2):c.1416-4A>G
NM_001080449.3(DNA2):c.1428C>T (p.Gly476=)
NM_001080449.3(DNA2):c.1429A>T (p.Ser477Cys)
NM_001080449.3(DNA2):c.1449T>C (p.Ile483=)
NM_001080449.3(DNA2):c.1457A>G (p.Glu486Gly)
NM_001080449.3(DNA2):c.1465A>C (p.Lys489Gln)
NM_001080449.3(DNA2):c.1466A>G (p.Lys489Arg)
NM_001080449.3(DNA2):c.1469T>C (p.Ile490Thr)
NM_001080449.3(DNA2):c.147G>A (p.Val49=)
NM_001080449.3(DNA2):c.147G>T (p.Val49=)
NM_001080449.3(DNA2):c.1486T>C (p.Tyr496His)
NM_001080449.3(DNA2):c.1487A>G (p.Tyr496Cys)
NM_001080449.3(DNA2):c.1491A>G (p.Leu497=) rs549990947
NM_001080449.3(DNA2):c.149T>G (p.Leu50Trp)
NM_001080449.3(DNA2):c.1544G>C (p.Gly515Ala)
NM_001080449.3(DNA2):c.1548_1549del (p.Asp516fs)
NM_001080449.3(DNA2):c.1558G>C (p.Val520Leu)
NM_001080449.3(DNA2):c.1558G>T (p.Val520Leu)
NM_001080449.3(DNA2):c.155T>G (p.Val52Gly)
NM_001080449.3(DNA2):c.1561A>G (p.Ser521Gly) rs2133386619
NM_001080449.3(DNA2):c.1584T>G (p.Phe528Leu)
NM_001080449.3(DNA2):c.158A>G (p.Asn53Ser)
NM_001080449.3(DNA2):c.1592C>G (p.Ser531Cys)
NM_001080449.3(DNA2):c.1597G>C (p.Gly533Arg)
NM_001080449.3(DNA2):c.1643A>G (p.Asp548Gly)
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs) rs768077989
NM_001080449.3(DNA2):c.1646+11G>A
NM_001080449.3(DNA2):c.1646+3A>G
NM_001080449.3(DNA2):c.1646+9A>G
NM_001080449.3(DNA2):c.1647-15G>A
NM_001080449.3(DNA2):c.1647-15_1647-12del
NM_001080449.3(DNA2):c.1647-18T>C
NM_001080449.3(DNA2):c.1655C>T (p.Ser552Leu)
NM_001080449.3(DNA2):c.1656G>A (p.Ser552=)
NM_001080449.3(DNA2):c.1659C>T (p.Val553=) rs1051825010
NM_001080449.3(DNA2):c.1664C>G (p.Pro555Arg)
NM_001080449.3(DNA2):c.166C>T (p.Gln56Ter) rs2133452707
NM_001080449.3(DNA2):c.1673C>G (p.Thr558Ser)
NM_001080449.3(DNA2):c.1675T>G (p.Leu559Val)
NM_001080449.3(DNA2):c.1680C>T (p.Phe560=)
NM_001080449.3(DNA2):c.1682G>A (p.Arg561Lys)
NM_001080449.3(DNA2):c.1698A>G (p.Glu566=)
NM_001080449.3(DNA2):c.1703del (p.Asn568fs)
NM_001080449.3(DNA2):c.1711A>G (p.Ile571Val)
NM_001080449.3(DNA2):c.1711dup (p.Ile571fs)
NM_001080449.3(DNA2):c.1718C>T (p.Thr573Ile) rs2133380065
NM_001080449.3(DNA2):c.1722A>G (p.Pro574=)
NM_001080449.3(DNA2):c.1741T>C (p.Leu581=)
NM_001080449.3(DNA2):c.1753dup (p.Thr585fs)
NM_001080449.3(DNA2):c.1755G>A (p.Thr585=)
NM_001080449.3(DNA2):c.1757T>C (p.Phe586Ser)
NM_001080449.3(DNA2):c.1757T>G (p.Phe586Cys)
NM_001080449.3(DNA2):c.1763+11A>G
NM_001080449.3(DNA2):c.1763+15G>A
NM_001080449.3(DNA2):c.1763G>A (p.Ser588Asn)
NM_001080449.3(DNA2):c.1764-14T>G
NM_001080449.3(DNA2):c.1764-17G>C
NM_001080449.3(DNA2):c.1769A>T (p.Lys590Ile)
NM_001080449.3(DNA2):c.1778A>G (p.Asp593Gly)
NM_001080449.3(DNA2):c.177G>A (p.Glu59=)
NM_001080449.3(DNA2):c.1787T>G (p.Ile596Ser)
NM_001080449.3(DNA2):c.1803T>C (p.Pro601=)
NM_001080449.3(DNA2):c.1815C>G (p.Ser605=)
NM_001080449.3(DNA2):c.1816T>C (p.Tyr606His)
NM_001080449.3(DNA2):c.1817A>T (p.Tyr606Phe)
NM_001080449.3(DNA2):c.1817del (p.Tyr606fs) rs1590055107
NM_001080449.3(DNA2):c.1819C>A (p.Leu607Ile)
NM_001080449.3(DNA2):c.1819C>G (p.Leu607Val)
NM_001080449.3(DNA2):c.1819C>T (p.Leu607Phe)
NM_001080449.3(DNA2):c.1823G>T (p.Ser608Ile)
NM_001080449.3(DNA2):c.1827T>A (p.Ser609=)
NM_001080449.3(DNA2):c.1838A>G (p.His613Arg)
NM_001080449.3(DNA2):c.1838A>T (p.His613Leu)
NM_001080449.3(DNA2):c.1852A>G (p.Thr618Ala)
NM_001080449.3(DNA2):c.1860C>G (p.Ala620=)
NM_001080449.3(DNA2):c.1865T>C (p.Ile622Thr)
NM_001080449.3(DNA2):c.186_187del (p.Cys62_Glu63delinsTer) rs777604935
NM_001080449.3(DNA2):c.1871del (p.Lys624fs)
NM_001080449.3(DNA2):c.1873+15C>T
NM_001080449.3(DNA2):c.1873+19G>T
NM_001080449.3(DNA2):c.1873+4T>C
NM_001080449.3(DNA2):c.1874-12A>G
NM_001080449.3(DNA2):c.1874-14G>C
NM_001080449.3(DNA2):c.1874-14G>T
NM_001080449.3(DNA2):c.1888C>T (p.Gln630Ter)
NM_001080449.3(DNA2):c.1900A>G (p.Met634Val)
NM_001080449.3(DNA2):c.1912C>A (p.Leu638Ile)
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu) rs1590054876
NM_001080449.3(DNA2):c.1920A>C (p.Ser640=)
NM_001080449.3(DNA2):c.1932A>G (p.Thr644=) rs771822514
NM_001080449.3(DNA2):c.1936A>C (p.Ile646Leu) rs1590054854
NM_001080449.3(DNA2):c.1938C>T (p.Ile646=)
NM_001080449.3(DNA2):c.193C>A (p.Arg65Ser) rs540241779
NM_001080449.3(DNA2):c.193C>T (p.Arg65Cys) rs540241779
NM_001080449.3(DNA2):c.1941G>A (p.Val647=)
NM_001080449.3(DNA2):c.1952G>A (p.Gly651Glu)
NM_001080449.3(DNA2):c.1954A>G (p.Thr652Ala)
NM_001080449.3(DNA2):c.1965A>G (p.Thr655=)
NM_001080449.3(DNA2):c.1972A>T (p.Ile658Leu) rs1433208116
NM_001080449.3(DNA2):c.1983+12A>C rs1057521699
NM_001080449.3(DNA2):c.1983+1G>T rs1415432326
NM_001080449.3(DNA2):c.1983+2dup
NM_001080449.3(DNA2):c.1983C>T (p.Leu661=)
NM_001080449.3(DNA2):c.1984-10C>A
NM_001080449.3(DNA2):c.1984-17C>A
NM_001080449.3(DNA2):c.1984-18del
NM_001080449.3(DNA2):c.1984-216C>A rs141279262
NM_001080449.3(DNA2):c.1984-9C>T
NM_001080449.3(DNA2):c.1993C>A (p.Leu665Ile)
NM_001080449.3(DNA2):c.1998C>T (p.Tyr666=)
NM_001080449.3(DNA2):c.1999G>A (p.Ala667Thr) rs200069526
NM_001080449.3(DNA2):c.1999G>T (p.Ala667Ser)
NM_001080449.3(DNA2):c.199G>A (p.Val67Ile)
NM_001080449.3(DNA2):c.2000C>A (p.Ala667Asp)
NM_001080449.3(DNA2):c.2002T>G (p.Cys668Gly)
NM_001080449.3(DNA2):c.2009T>G (p.Phe670Cys)
NM_001080449.3(DNA2):c.2013C>T (p.Ser671=)
NM_001080449.3(DNA2):c.2044G>A (p.Val682Ile)
NM_001080449.3(DNA2):c.2054T>C (p.Ile685Thr)
NM_001080449.3(DNA2):c.2089T>C (p.Leu697=)
NM_001080449.3(DNA2):c.2097G>A (p.Leu699=)
NM_001080449.3(DNA2):c.2099G>A (p.Gly700Asp)
NM_001080449.3(DNA2):c.2101C>G (p.Gln701Glu)
NM_001080449.3(DNA2):c.2102A>G (p.Gln701Arg)
NM_001080449.3(DNA2):c.2111A>C (p.Lys704Thr)
NM_001080449.3(DNA2):c.2118T>C (p.His706=)
NM_001080449.3(DNA2):c.211dup (p.Ser71fs)
NM_001080449.3(DNA2):c.2120C>T (p.Pro707Leu)
NM_001080449.3(DNA2):c.2129A>G (p.Gln710Arg)
NM_001080449.3(DNA2):c.213A>G (p.Ser71=)
NM_001080449.3(DNA2):c.2160A>G (p.Ser720=)
NM_001080449.3(DNA2):c.2162del (p.Lys721fs)
NM_001080449.3(DNA2):c.2167A>G (p.Ile723Val)
NM_001080449.3(DNA2):c.2171A>G (p.Lys724Arg)
NM_001080449.3(DNA2):c.2173T>G (p.Ser725Ala)
NM_001080449.3(DNA2):c.2175C>G (p.Ser725=)
NM_001080449.3(DNA2):c.2175del (p.Ser725_Leu726insTer) rs755679214
NM_001080449.3(DNA2):c.217T>A (p.Ser73Thr)
NM_001080449.3(DNA2):c.2185C>G (p.Leu729Val)
NM_001080449.3(DNA2):c.2189A>C (p.Glu730Ala)
NM_001080449.3(DNA2):c.2196C>T (p.Leu732=)
NM_001080449.3(DNA2):c.2204G>T (p.Ser735Ile)
NM_001080449.3(DNA2):c.2208+11T>C
NM_001080449.3(DNA2):c.2208+12T>A
NM_001080449.3(DNA2):c.2208+16G>A
NM_001080449.3(DNA2):c.2208+18A>G
NM_001080449.3(DNA2):c.2209-11C>T rs538970967
NM_001080449.3(DNA2):c.2209-12_2209-4del rs2133363015
NM_001080449.3(DNA2):c.2209-14T>A
NM_001080449.3(DNA2):c.2209-302CAAA[4] rs143774829
NM_001080449.3(DNA2):c.2209-51del rs141172562
NM_001080449.3(DNA2):c.2209C>T (p.Leu737Phe)
NM_001080449.3(DNA2):c.2213T>C (p.Ile738Thr)
NM_001080449.3(DNA2):c.2214A>G (p.Ile738Met)
NM_001080449.3(DNA2):c.2216T>C (p.Val739Ala) rs1064796309
NM_001080449.3(DNA2):c.2217T>A (p.Val739=)
NM_001080449.3(DNA2):c.2218G>A (p.Ala740Thr)
NM_001080449.3(DNA2):c.2222C>T (p.Thr741Ile)
NM_001080449.3(DNA2):c.2235A>G (p.Gly745=)
NM_001080449.3(DNA2):c.223G>C (p.Glu75Gln)
NM_001080449.3(DNA2):c.2242C>A (p.His748Asn)
NM_001080449.3(DNA2):c.2248A>G (p.Ile750Val)
NM_001080449.3(DNA2):c.2256C>G (p.Ser752=)
NM_001080449.3(DNA2):c.2258G>A (p.Arg753His)
NM_001080449.3(DNA2):c.2269G>A (p.Asp757Asn)
NM_001080449.3(DNA2):c.2272T>G (p.Phe758Val)
NM_001080449.3(DNA2):c.2278_2279del (p.Ile760fs)
NM_001080449.3(DNA2):c.2281G>A (p.Val761Met)
NM_001080449.3(DNA2):c.2286T>G (p.Asp762Glu)
NM_001080449.3(DNA2):c.228T>A (p.Asn76Lys)
NM_001080449.3(DNA2):c.2303G>T (p.Ser768Ile)
NM_001080449.3(DNA2):c.2304C>T (p.Ser768=)
NM_001080449.3(DNA2):c.2305C>G (p.Gln769Glu)
NM_001080449.3(DNA2):c.2313T>C (p.Ile771=)
NM_001080449.3(DNA2):c.2314T>G (p.Cys772Gly)
NM_001080449.3(DNA2):c.231A>G (p.Lys77=)
NM_001080449.3(DNA2):c.2321G>T (p.Gly774Val)
NM_001080449.3(DNA2):c.2322C>T (p.Gly774=)
NM_001080449.3(DNA2):c.2325C>T (p.Pro775=)
NM_001080449.3(DNA2):c.2330T>G (p.Phe777Cys)
NM_001080449.3(DNA2):c.2331T>C (p.Phe777=)
NM_001080449.3(DNA2):c.2335del (p.Ser779fs)
NM_001080449.3(DNA2):c.2335dup (p.Ser779fs)
NM_001080449.3(DNA2):c.2338C>T (p.Arg780Trp)
NM_001080449.3(DNA2):c.2343A>G (p.Arg781=)
NM_001080449.3(DNA2):c.2354T>C (p.Val785Ala)
NM_001080449.3(DNA2):c.2355G>T (p.Val785=)
NM_001080449.3(DNA2):c.2361C>A (p.Asp787Glu)
NM_001080449.3(DNA2):c.2369A>T (p.Gln790Leu)
NM_001080449.3(DNA2):c.2377C>G (p.Pro793Ala)
NM_001080449.3(DNA2):c.2379C>G (p.Pro793=)
NM_001080449.3(DNA2):c.237A>G (p.Leu79=)
NM_001080449.3(DNA2):c.2381del (p.Leu794fs) rs2051681654
NM_001080449.3(DNA2):c.2384T>G (p.Val795Gly)
NM_001080449.3(DNA2):c.2391C>A (p.Asn797Lys)
NM_001080449.3(DNA2):c.2392C>A (p.Arg798Ser)
NM_001080449.3(DNA2):c.2392C>T (p.Arg798Cys)
NM_001080449.3(DNA2):c.2393G>A (p.Arg798His) rs529850423
NM_001080449.3(DNA2):c.2400A>G (p.Ala800=)
NM_001080449.3(DNA2):c.2402+1G>A
NM_001080449.3(DNA2):c.2402+3A>G
NM_001080449.3(DNA2):c.2402+4G>C
NM_001080449.3(DNA2):c.2403-10T>C
NM_001080449.3(DNA2):c.2403-18A>T
NM_001080449.3(DNA2):c.2403-1_2406del
NM_001080449.3(DNA2):c.2404G>A (p.Ala802Thr)
NM_001080449.3(DNA2):c.2417G>A (p.Ser806Asn)
NM_001080449.3(DNA2):c.2427A>G (p.Leu809=)
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu) rs73274785
NM_001080449.3(DNA2):c.2430C>T (p.Phe810=) rs73274785
NM_001080449.3(DNA2):c.243C>G (p.Ile81Met)
NM_001080449.3(DNA2):c.2449A>G (p.Lys817Glu)
NM_001080449.3(DNA2):c.2455G>T (p.Ala819Ser) rs2133362120
NM_001080449.3(DNA2):c.2456C>T (p.Ala819Val)
NM_001080449.3(DNA2):c.2458G>C (p.Val820Leu)
NM_001080449.3(DNA2):c.246T>G (p.Leu82=)
NM_001080449.3(DNA2):c.2470A>G (p.Thr824Ala)
NM_001080449.3(DNA2):c.2472C>T (p.Thr824=)
NM_001080449.3(DNA2):c.2477A>G (p.Gln826Arg)
NM_001080449.3(DNA2):c.2492+11C>T
NM_001080449.3(DNA2):c.2492+7G>A
NM_001080449.3(DNA2):c.2493-13del
NM_001080449.3(DNA2):c.2493-15T>A
NM_001080449.3(DNA2):c.2493-18C>A
NM_001080449.3(DNA2):c.2493-5C>T
NM_001080449.3(DNA2):c.2494A>G (p.Lys832Glu)
NM_001080449.3(DNA2):c.2497A>C (p.Ile833Leu)
NM_001080449.3(DNA2):c.2504C>T (p.Ser835Phe)
NM_001080449.3(DNA2):c.2513A>G (p.Asn838Ser)
NM_001080449.3(DNA2):c.2516A>C (p.Lys839Thr) rs2133361899
NM_001080449.3(DNA2):c.2522C>T (p.Thr841Ile)
NM_001080449.3(DNA2):c.2549C>T (p.Ser850Leu) rs2051677362
NM_001080449.3(DNA2):c.2554A>G (p.Lys852Glu)
NM_001080449.3(DNA2):c.2561C>T (p.Ala854Val)
NM_001080449.3(DNA2):c.2564A>T (p.Asn855Ile)
NM_001080449.3(DNA2):c.2565T>A (p.Asn855Lys)
NM_001080449.3(DNA2):c.257+11T>A
NM_001080449.3(DNA2):c.257+12G>A
NM_001080449.3(DNA2):c.257+20G>A
NM_001080449.3(DNA2):c.257+3A>G
NM_001080449.3(DNA2):c.2577C>A (p.Asn859Lys)
NM_001080449.3(DNA2):c.258-106del rs149096095
NM_001080449.3(DNA2):c.258-1G>T rs2133449932
NM_001080449.3(DNA2):c.2581C>T (p.Arg861Cys)
NM_001080449.3(DNA2):c.2582G>A (p.Arg861His)
NM_001080449.3(DNA2):c.2582G>C (p.Arg861Pro)
NM_001080449.3(DNA2):c.2586C>G (p.His862Gln)
NM_001080449.3(DNA2):c.2588T>C (p.Phe863Ser)
NM_001080449.3(DNA2):c.2596G>A (p.Val866Met)
NM_001080449.3(DNA2):c.2605G>A (p.Glu869Lys)
NM_001080449.3(DNA2):c.2616T>G (p.Phe872Leu)
NM_001080449.3(DNA2):c.2617T>C (p.Tyr873His)
NM_001080449.3(DNA2):c.2620G>A (p.Ala874Thr)
NM_001080449.3(DNA2):c.2621C>T (p.Ala874Val)
NM_001080449.3(DNA2):c.2627A>G (p.Tyr876Cys)
NM_001080449.3(DNA2):c.262T>C (p.Ser88Pro)
NM_001080449.3(DNA2):c.2630C>A (p.Ser877Tyr)
NM_001080449.3(DNA2):c.263C>T (p.Ser88Phe)
NM_001080449.3(DNA2):c.2652A>C (p.Gly884=)
NM_001080449.3(DNA2):c.2657T>C (p.Phe886Ser)
NM_001080449.3(DNA2):c.265G>C (p.Val89Leu)
NM_001080449.3(DNA2):c.2661A>G (p.Glu887=)
NM_001080449.3(DNA2):c.2663C>T (p.Pro888Leu)
NM_001080449.3(DNA2):c.2664del (p.Asn889fs)
NM_001080449.3(DNA2):c.2671C>T (p.Pro891Ser) rs1386850085
NM_001080449.3(DNA2):c.2684T>A (p.Leu895His) rs2133361599
NM_001080449.3(DNA2):c.2684T>C (p.Leu895Pro)
NM_001080449.3(DNA2):c.2694C>T (p.Asp898=)
NM_001080449.3(DNA2):c.2697+13del rs370068890
NM_001080449.3(DNA2):c.2697+13dup rs370068890
NM_001080449.3(DNA2):c.2697+16T>C
NM_001080449.3(DNA2):c.2697+16_2697+18del rs1273898616
NM_001080449.3(DNA2):c.2697+17_2697+18del
NM_001080449.3(DNA2):c.2697+18del
NM_001080449.3(DNA2):c.2698-14A>G
NM_001080449.3(DNA2):c.2698-18G>A
NM_001080449.3(DNA2):c.2698-20C>G
NM_001080449.3(DNA2):c.2699T>C (p.Val900Ala)
NM_001080449.3(DNA2):c.2745A>T (p.Thr915=)
NM_001080449.3(DNA2):c.274G>A (p.Glu92Lys) rs1370201291
NM_001080449.3(DNA2):c.2751C>G (p.Ala917=)
NM_001080449.3(DNA2):c.2752A>G (p.Lys918Glu)
NM_001080449.3(DNA2):c.2755C>T (p.Leu919Phe)
NM_001080449.3(DNA2):c.2767C>T (p.Leu923=)
NM_001080449.3(DNA2):c.2785A>G (p.Lys929Glu)
NM_001080449.3(DNA2):c.2787+20G>C
NM_001080449.3(DNA2):c.2787+7T>C
NM_001080449.3(DNA2):c.2788-16G>A
NM_001080449.3(DNA2):c.2788-18G>T
NM_001080449.3(DNA2):c.2788-274TG[10] rs113036471
NM_001080449.3(DNA2):c.27G>C (p.Leu9=)
NM_001080449.3(DNA2):c.2801C>T (p.Pro934Leu)
NM_001080449.3(DNA2):c.280G>A (p.Gly94Arg)
NM_001080449.3(DNA2):c.2820T>C (p.Ile940=)
NM_001080449.3(DNA2):c.2824C>T (p.Pro942Ser)
NM_001080449.3(DNA2):c.2828A>T (p.Tyr943Phe) rs1085307729
NM_001080449.3(DNA2):c.2829C>T (p.Tyr943=)
NM_001080449.3(DNA2):c.2844G>T (p.Lys948Asn)
NM_001080449.3(DNA2):c.2852A>G (p.Asn951Ser)
NM_001080449.3(DNA2):c.2855A>G (p.Asp952Gly)
NM_001080449.3(DNA2):c.2857T>A (p.Leu953Ile)
NM_001080449.3(DNA2):c.2862G>C (p.Leu954Phe)
NM_001080449.3(DNA2):c.2866C>T (p.Arg956Cys)
NM_001080449.3(DNA2):c.2873T>C (p.Ile958Thr)
NM_001080449.3(DNA2):c.2883C>A (p.Val961=)
NM_001080449.3(DNA2):c.2883C>T (p.Val961=)
NM_001080449.3(DNA2):c.2884G>A (p.Glu962Lys) rs1358549381
NM_001080449.3(DNA2):c.2891A>G (p.Asn964Ser)
NM_001080449.3(DNA2):c.2898del (p.Asp967fs) rs1590045526
NM_001080449.3(DNA2):c.2902A>G (p.Lys968Glu)
NM_001080449.3(DNA2):c.2914A>G (p.Arg972Gly)
NM_001080449.3(DNA2):c.2918A>G (p.Asp973Gly)
NM_001080449.3(DNA2):c.2919C>T (p.Asp973=)
NM_001080449.3(DNA2):c.2926del (p.Ile976fs)
NM_001080449.3(DNA2):c.2928T>C (p.Ile976=)
NM_001080449.3(DNA2):c.2934A>C (p.Leu978=) rs1165840232
NM_001080449.3(DNA2):c.2935G>A (p.Val979Ile)
NM_001080449.3(DNA2):c.2943del (p.Phe981fs) rs2133355954
NM_001080449.3(DNA2):c.2949A>G (p.Arg983=)
NM_001080449.3(DNA2):c.2955T>C (p.Asn985=)
NM_001080449.3(DNA2):c.2957A>G (p.Lys986Arg)
NM_001080449.3(DNA2):c.2958G>A (p.Lys986=)
NM_001080449.3(DNA2):c.2958G>C (p.Lys986Asn)
NM_001080449.3(DNA2):c.2959G>A (p.Asp987Asn)
NM_001080449.3(DNA2):c.2960A>G (p.Asp987Gly)
NM_001080449.3(DNA2):c.2964A>C (p.Gly988=)
NM_001080449.3(DNA2):c.2965A>C (p.Thr989Pro)
NM_001080449.3(DNA2):c.2965A>G (p.Thr989Ala)
NM_001080449.3(DNA2):c.2967+16T>C
NM_001080449.3(DNA2):c.2971G>A (p.Gly991Ser)
NM_001080449.3(DNA2):c.2972G>T (p.Gly991Val)
NM_001080449.3(DNA2):c.2977C>G (p.Leu993Val)
NM_001080449.3(DNA2):c.2992C>T (p.Arg998Ter)
NM_001080449.3(DNA2):c.2993G>A (p.Arg998Gln)
NM_001080449.3(DNA2):c.2995C>T (p.Arg999Cys)
NM_001080449.3(DNA2):c.2996G>A (p.Arg999His)
NM_001080449.3(DNA2):c.3007G>T (p.Ala1003Ser)
NM_001080449.3(DNA2):c.3026A>G (p.His1009Arg)
NM_001080449.3(DNA2):c.3032T>A (p.Leu1011Gln)
NM_001080449.3(DNA2):c.3032T>G (p.Leu1011Arg)
NM_001080449.3(DNA2):c.303A>G (p.Gly101=)
NM_001080449.3(DNA2):c.3044G>A (p.Gly1015Glu)
NM_001080449.3(DNA2):c.3050_3051del (p.Val1017fs)
NM_001080449.3(DNA2):c.3054C>T (p.Pro1018=)
NM_001080449.3(DNA2):c.3059T>C (p.Leu1020Pro)
NM_001080449.3(DNA2):c.305A>T (p.Asp102Val)
NM_001080449.3(DNA2):c.3062A>G (p.Asn1021Ser)
NM_001080449.3(DNA2):c.3068A>C (p.Tyr1023Ser)
NM_001080449.3(DNA2):c.306C>T (p.Asp102=)
NM_001080449.3(DNA2):c.3070C>T (p.Pro1024Ser)
NM_001080449.3(DNA2):c.3074C>T (p.Pro1025Leu)
NM_001080449.3(DNA2):c.3084G>T (p.Lys1028Asn)
NM_001080449.3(DNA2):c.3087G>C (p.Leu1029=)
NM_001080449.3(DNA2):c.3091A>G (p.Asn1031Asp)
NM_001080449.3(DNA2):c.3096T>C (p.His1032=)
NM_001080449.3(DNA2):c.3099A>G (p.Leu1033=)
NM_001080449.3(DNA2):c.309C>T (p.Cys103=)
NM_001080449.3(DNA2):c.3101A>T (p.Asn1034Ile)
NM_001080449.3(DNA2):c.3111A>G (p.Lys1037=)
NM_001080449.3(DNA2):c.3114+11dup
NM_001080449.3(DNA2):c.3114+12C>A
NM_001080449.3(DNA2):c.3114+307C>T rs111333451
NM_001080449.3(DNA2):c.3115-169del rs549702509
NM_001080449.3(DNA2):c.314C>A (p.Ser105Tyr)
NM_001080449.3(DNA2):c.318C>T (p.Asp106=)
NM_001080449.3(DNA2):c.319A>G (p.Thr107Ala)
NM_001080449.3(DNA2):c.325A>G (p.Ile109Val)
NM_001080449.3(DNA2):c.32T>A (p.Met11Lys) rs1564901044
NM_001080449.3(DNA2):c.337G>A (p.Asp113Asn) rs778315961
NM_001080449.3(DNA2):c.345A>C (p.Gly115=)
NM_001080449.3(DNA2):c.351_352delinsAT (p.Ile118Phe)
NM_001080449.3(DNA2):c.377C>A (p.Ser126Tyr)
NM_001080449.3(DNA2):c.385A>G (p.Ser129Gly)
NM_001080449.3(DNA2):c.389T>C (p.Ile130Thr)
NM_001080449.3(DNA2):c.393C>G (p.Ala131=)
NM_001080449.3(DNA2):c.398G>A (p.Ser133Asn)
NM_001080449.3(DNA2):c.400A>G (p.Ile134Val)
NM_001080449.3(DNA2):c.404G>A (p.Arg135Gln)
NM_001080449.3(DNA2):c.404G>C (p.Arg135Pro)
NM_001080449.3(DNA2):c.413G>T (p.Arg138Ile)
NM_001080449.3(DNA2):c.417A>G (p.Arg139=)
NM_001080449.3(DNA2):c.428G>A (p.Ser143Asn)
NM_001080449.3(DNA2):c.43T>A (p.Phe15Ile)
NM_001080449.3(DNA2):c.440G>C (p.Arg147Thr)
NM_001080449.3(DNA2):c.441+5A>G
NM_001080449.3(DNA2):c.441+9T>C
NM_001080449.3(DNA2):c.442-10G>C
NM_001080449.3(DNA2):c.442-10G>T
NM_001080449.3(DNA2):c.442-19G>A
NM_001080449.3(DNA2):c.442-20TG[2]
NM_001080449.3(DNA2):c.442-2A>G
NM_001080449.3(DNA2):c.452C>A (p.Pro151Gln) rs369206536
NM_001080449.3(DNA2):c.461G>A (p.Arg154His)
NM_001080449.3(DNA2):c.466A>G (p.Met156Val)
NM_001080449.3(DNA2):c.471A>G (p.Leu157=)
NM_001080449.3(DNA2):c.479C>T (p.Thr160Met)
NM_001080449.3(DNA2):c.480G>A (p.Thr160=)
NM_001080449.3(DNA2):c.486C>T (p.Leu162=)
NM_001080449.3(DNA2):c.503A>G (p.Lys168Arg)
NM_001080449.3(DNA2):c.505G>T (p.Ala169Ser)
NM_001080449.3(DNA2):c.514A>C (p.Asn172His)
NM_001080449.3(DNA2):c.515A>G (p.Asn172Ser)
NM_001080449.3(DNA2):c.521T>C (p.Phe174Ser)
NM_001080449.3(DNA2):c.52G>T (p.Glu18Ter) rs1554911818
NM_001080449.3(DNA2):c.530A>T (p.Glu177Val)
NM_001080449.3(DNA2):c.537A>G (p.Leu179=)
NM_001080449.3(DNA2):c.540A>G (p.Gln180=)
NM_001080449.3(DNA2):c.541G>T (p.Glu181Ter)
NM_001080449.3(DNA2):c.551T>C (p.Phe184Ser)
NM_001080449.3(DNA2):c.56C>G (p.Ala19Gly)
NM_001080449.3(DNA2):c.578T>C (p.Leu193Ser)
NM_001080449.3(DNA2):c.587+11A>G
NM_001080449.3(DNA2):c.587+12T>C
NM_001080449.3(DNA2):c.587+17A>G
NM_001080449.3(DNA2):c.587+18_587+20del
NM_001080449.3(DNA2):c.587T>C (p.Met196Thr)
NM_001080449.3(DNA2):c.588-11A>G
NM_001080449.3(DNA2):c.588-16A>G
NM_001080449.3(DNA2):c.588-4G>T rs567748482
NM_001080449.3(DNA2):c.59A>G (p.Glu20Gly)
NM_001080449.3(DNA2):c.616A>T (p.Ile206Leu)
NM_001080449.3(DNA2):c.619A>G (p.Lys207Glu) rs1064796594
NM_001080449.3(DNA2):c.630A>G (p.Val210=)
NM_001080449.3(DNA2):c.644C>T (p.Pro215Leu)
NM_001080449.3(DNA2):c.647C>T (p.Ser216Leu)
NM_001080449.3(DNA2):c.648G>A (p.Ser216=)
NM_001080449.3(DNA2):c.648G>T (p.Ser216=)
NM_001080449.3(DNA2):c.64_74+1del rs556723627
NM_001080449.3(DNA2):c.64_74+1dup
NM_001080449.3(DNA2):c.65C>G (p.Pro22Arg)
NM_001080449.3(DNA2):c.65C>T (p.Pro22Leu)
NM_001080449.3(DNA2):c.662C>A (p.Ala221Glu) rs751031650
NM_001080449.3(DNA2):c.662C>G (p.Ala221Gly) rs751031650
NM_001080449.3(DNA2):c.666A>G (p.Gly222=)
NM_001080449.3(DNA2):c.672C>T (p.Phe224=)
NM_001080449.3(DNA2):c.674T>G (p.Met225Arg) rs1012375805
NM_001080449.3(DNA2):c.678T>C (p.His226=)
NM_001080449.3(DNA2):c.678T>G (p.His226Gln)
NM_001080449.3(DNA2):c.683A>G (p.Asn228Ser)
NM_001080449.3(DNA2):c.689C>T (p.Ser230Leu)
NM_001080449.3(DNA2):c.6G>A (p.Glu2=)
NM_001080449.3(DNA2):c.701C>G (p.Pro234Arg)
NM_001080449.3(DNA2):c.704A>G (p.Gln235Arg)
NM_001080449.3(DNA2):c.719+11C>T
NM_001080449.3(DNA2):c.719+62GT[2] rs140385668
NM_001080449.3(DNA2):c.71A>G (p.Glu24Gly) rs1225526140
NM_001080449.3(DNA2):c.720-15_720-12dup rs34191745
NM_001080449.3(DNA2):c.720-15_720-14dup rs34191745
NM_001080449.3(DNA2):c.720-15dup rs34191745
NM_001080449.3(DNA2):c.720-1G>A rs2133414294
NM_001080449.3(DNA2):c.720-2A>G
NM_001080449.3(DNA2):c.720-4del rs34191745
NM_001080449.3(DNA2):c.720-6_720-4dup
NM_001080449.3(DNA2):c.720-84GT[2] rs150251397
NM_001080449.3(DNA2):c.720-9T>A
NM_001080449.3(DNA2):c.720G>A (p.Leu240=)
NM_001080449.3(DNA2):c.722C>T (p.Pro241Leu)
NM_001080449.3(DNA2):c.723A>G (p.Pro241=)
NM_001080449.3(DNA2):c.728A>C (p.Asp243Ala)
NM_001080449.3(DNA2):c.729T>C (p.Asp243=)
NM_001080449.3(DNA2):c.731dup (p.Asn244fs)
NM_001080449.3(DNA2):c.732T>C (p.Asn244=)
NM_001080449.3(DNA2):c.735_738del (p.Ser245fs)
NM_001080449.3(DNA2):c.73_74+10del rs1554911807
NM_001080449.3(DNA2):c.74+11del
NM_001080449.3(DNA2):c.74+12G>A
NM_001080449.3(DNA2):c.74+12G>C
NM_001080449.3(DNA2):c.74+12G>T
NM_001080449.3(DNA2):c.74+13G>A
NM_001080449.3(DNA2):c.74+13G>C rs370226465
NM_001080449.3(DNA2):c.74+13G>T rs370226465
NM_001080449.3(DNA2):c.74+14G>C
NM_001080449.3(DNA2):c.74+17G>A
NM_001080449.3(DNA2):c.74+17G>T
NM_001080449.3(DNA2):c.74+17del
NM_001080449.3(DNA2):c.74+4A>C
NM_001080449.3(DNA2):c.74+7_74+9delinsCTT
NM_001080449.3(DNA2):c.74+9A>G
NM_001080449.3(DNA2):c.75-13G>A
NM_001080449.3(DNA2):c.75-14T>C
NM_001080449.3(DNA2):c.758T>C (p.Ile253Thr)
NM_001080449.3(DNA2):c.768G>T (p.Val256=)
NM_001080449.3(DNA2):c.76T>G (p.Phe26Val)
NM_001080449.3(DNA2):c.776T>C (p.Met259Thr)
NM_001080449.3(DNA2):c.776T>G (p.Met259Arg)
NM_001080449.3(DNA2):c.791G>A (p.Ser264Asn)
NM_001080449.3(DNA2):c.792C>T (p.Ser264=)
NM_001080449.3(DNA2):c.822C>G (p.Gly274=)
NM_001080449.3(DNA2):c.823A>G (p.Lys275Glu)
NM_001080449.3(DNA2):c.831T>C (p.Asp277=)
NM_001080449.3(DNA2):c.839T>C (p.Val280Ala)
NM_001080449.3(DNA2):c.845T>C (p.Val282Ala)
NM_001080449.3(DNA2):c.84G>A (p.Lys28=)
NM_001080449.3(DNA2):c.854A>G (p.His285Arg)
NM_001080449.3(DNA2):c.856C>A (p.Arg286=)
NM_001080449.3(DNA2):c.858A>G (p.Arg286=)
NM_001080449.3(DNA2):c.879G>C (p.Lys293Asn)
NM_001080449.3(DNA2):c.897T>G (p.Leu299=)
NM_001080449.3(DNA2):c.910G>A (p.Glu304Lys)
NM_001080449.3(DNA2):c.916A>T (p.Asn306Tyr) rs2133413753
NM_001080449.3(DNA2):c.919T>A (p.Ser307Thr)
NM_001080449.3(DNA2):c.920C>G (p.Ser307Cys)
NM_001080449.3(DNA2):c.922A>G (p.Ile308Val)
NM_001080449.3(DNA2):c.931C>A (p.Arg311Ser)
NM_001080449.3(DNA2):c.938A>G (p.Gln313Arg)
NM_001080449.3(DNA2):c.939+1G>A
NM_001080449.3(DNA2):c.939+20A>G
NM_001080449.3(DNA2):c.939+37dup rs57883442
NM_001080449.3(DNA2):c.939+54del rs57883442
NM_001080449.3(DNA2):c.940-12A>G
NM_001080449.3(DNA2):c.940-17T>C
NM_001080449.3(DNA2):c.940-1G>T
NM_001080449.3(DNA2):c.940-331_940-317del rs200343842
NM_001080449.3(DNA2):c.940-3C>G
NM_001080449.3(DNA2):c.940-7del rs1243013178
NM_001080449.3(DNA2):c.943G>A (p.Val315Ile)
NM_001080449.3(DNA2):c.952A>C (p.Thr318Pro)
NM_001080449.3(DNA2):c.952A>G (p.Thr318Ala)
NM_001080449.3(DNA2):c.955C>A (p.Leu319Ile)
NM_001080449.3(DNA2):c.956T>A (p.Leu319Gln)
NM_001080449.3(DNA2):c.963C>T (p.Ser321=)
NM_001080449.3(DNA2):c.972A>G (p.Arg324=)
NM_001080449.3(DNA2):c.974G>C (p.Arg325Thr) rs773480400
NM_001080449.3(DNA2):c.982C>G (p.Pro328Ala)
NM_001080449.3(DNA2):c.984A>G (p.Pro328=)
NM_001080449.3(DNA2):c.988G>T (p.Ala330Ser) rs2133405413
NM_001080449.3(DNA2):c.989C>G (p.Ala330Gly)
NM_001080449.3(DNA2):c.992G>A (p.Gly331Asp) rs1057518366

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