ClinVar Miner

List of variants reported as uncertain significance for Familial focal epilepsy with variable foci

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 838
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.1466G>A (p.Ser489Asn) rs200209747 0.00029
NM_001242896.3(DEPDC5):c.2035G>A (p.Gly679Ser) rs748634683 0.00026
NM_001242896.3(DEPDC5):c.3021G>T (p.Arg1007=) rs201690337 0.00024
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser) rs201776005 0.00023
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr) rs185576553 0.00021
NM_001242896.3(DEPDC5):c.4391C>T (p.Thr1464Met) rs556147064 0.00019
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614 0.00014
NM_001242896.3(DEPDC5):c.2066A>C (p.Glu689Ala) rs370940232 0.00011
NM_001242896.3(DEPDC5):c.3805+14C>T rs376135083 0.00011
NM_001242896.3(DEPDC5):c.3013A>G (p.Met1005Val) rs367860294 0.00009
NM_001242896.3(DEPDC5):c.4733A>G (p.Asp1578Gly) rs201347461 0.00009
NM_001242896.3(DEPDC5):c.233G>C (p.Arg78Pro) rs373578854 0.00008
NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys) rs750467533 0.00008
NM_001242896.3(DEPDC5):c.130C>G (p.Pro44Ala) rs756878843 0.00007
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met) rs200744555 0.00007
NM_001242896.3(DEPDC5):c.3545A>G (p.Glu1182Gly) rs373459336 0.00007
NM_001242896.3(DEPDC5):c.1408C>T (p.Pro470Ser) rs371312649 0.00006
NM_001242896.3(DEPDC5):c.2287C>T (p.Arg763Cys) rs745342391 0.00006
NM_001242896.3(DEPDC5):c.2836T>C (p.Phe946Leu) rs377335254 0.00006
NM_001242896.3(DEPDC5):c.2921G>A (p.Arg974His) rs762596342 0.00006
NM_001242896.3(DEPDC5):c.3085A>G (p.Thr1029Ala) rs537257402 0.00006
NM_001242896.3(DEPDC5):c.3622G>A (p.Ala1208Thr) rs748662185 0.00006
NM_001242896.3(DEPDC5):c.5G>A (p.Arg2Lys) rs756142773 0.00006
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe) rs200797928 0.00006
NM_001242896.3(DEPDC5):c.90C>G (p.Phe30Leu) rs374794334 0.00006
NM_001242896.3(DEPDC5):c.1082-3T>A rs780547994 0.00005
NM_001242896.3(DEPDC5):c.1153C>T (p.Arg385Trp) rs200020310 0.00005
NM_001242896.3(DEPDC5):c.3217A>C (p.Ser1073Arg) rs754608531 0.00005
NM_001242896.3(DEPDC5):c.4183G>A (p.Ala1395Thr) rs764462476 0.00005
NM_001242896.3(DEPDC5):c.532A>G (p.Ser178Gly) rs758035240 0.00005
NM_001242896.3(DEPDC5):c.1154G>A (p.Arg385Gln) rs368032858 0.00004
NM_001242896.3(DEPDC5):c.1226C>G (p.Thr409Arg) rs773704927 0.00004
NM_001242896.3(DEPDC5):c.1354G>A (p.Ala452Thr) rs768264302 0.00004
NM_001242896.3(DEPDC5):c.2026C>G (p.Pro676Ala) rs199603004 0.00004
NM_001242896.3(DEPDC5):c.2045T>A (p.Phe682Tyr) rs373078069 0.00004
NM_001242896.3(DEPDC5):c.2377A>G (p.Met793Val) rs370318709 0.00004
NM_001242896.3(DEPDC5):c.2480C>T (p.Pro827Leu) rs374719445 0.00004
NM_001242896.3(DEPDC5):c.2486C>T (p.Pro829Leu) rs370487077 0.00004
NM_001242896.3(DEPDC5):c.2996G>A (p.Arg999Gln) rs201245740 0.00004
NM_001242896.3(DEPDC5):c.3206A>C (p.Gln1069Pro) rs761678944 0.00004
NM_001242896.3(DEPDC5):c.3302G>A (p.Arg1101His) rs971993042 0.00004
NM_001242896.3(DEPDC5):c.338A>T (p.Asp113Val) rs529069517 0.00004
NM_001242896.3(DEPDC5):c.3547G>A (p.Ala1183Thr) rs376438394 0.00004
NM_001242896.3(DEPDC5):c.3563C>T (p.Ser1188Leu) rs376487148 0.00004
NM_001242896.3(DEPDC5):c.3659G>A (p.Gly1220Glu) rs374871448 0.00004
NM_001242896.3(DEPDC5):c.3678G>A (p.Met1226Ile) rs756692170 0.00004
NM_001242896.3(DEPDC5):c.3785C>T (p.Thr1262Met) rs369298689 0.00004
NM_001242896.3(DEPDC5):c.380A>G (p.Tyr127Cys) rs370881336 0.00004
NM_001242896.3(DEPDC5):c.3946C>G (p.Leu1316Val) rs755051459 0.00004
NM_001242896.3(DEPDC5):c.4175C>T (p.Ala1392Val) rs1420107846 0.00004
NM_001242896.3(DEPDC5):c.562+4C>T rs553625749 0.00004
NM_001242896.3(DEPDC5):c.1067G>A (p.Arg356Gln) rs764876578 0.00003
NM_001242896.3(DEPDC5):c.114T>G (p.Ile38Met) rs566463688 0.00003
NM_001242896.3(DEPDC5):c.1166G>A (p.Arg389His) rs768332862 0.00003
NM_001242896.3(DEPDC5):c.1334G>A (p.Ser445Asn) rs201797550 0.00003
NM_001242896.3(DEPDC5):c.1456G>A (p.Glu486Lys) rs1389850959 0.00003
NM_001242896.3(DEPDC5):c.1760G>A (p.Arg587Gln) rs754007438 0.00003
NM_001242896.3(DEPDC5):c.1945A>G (p.Arg649Gly) rs775910110 0.00003
NM_001242896.3(DEPDC5):c.2010C>A (p.His670Gln) rs752274547 0.00003
NM_001242896.3(DEPDC5):c.2288G>A (p.Arg763His) rs542384516 0.00003
NM_001242896.3(DEPDC5):c.2465C>G (p.Pro822Arg) rs746372266 0.00003
NM_001242896.3(DEPDC5):c.2553G>C (p.Gln851His) rs368375649 0.00003
NM_001242896.3(DEPDC5):c.2704G>A (p.Val902Ile) rs374944205 0.00003
NM_001242896.3(DEPDC5):c.2875A>G (p.Ile959Val) rs757332983 0.00003
NM_001242896.3(DEPDC5):c.2884G>T (p.Gly962Trp) rs756338392 0.00003
NM_001242896.3(DEPDC5):c.2920C>T (p.Arg974Cys) rs768342837 0.00003
NM_001242896.3(DEPDC5):c.3014T>A (p.Met1005Lys) rs778753730 0.00003
NM_001242896.3(DEPDC5):c.3194A>G (p.Lys1065Arg) rs757609394 0.00003
NM_001242896.3(DEPDC5):c.3316G>A (p.Ala1106Thr) rs1247651367 0.00003
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe) rs578244490 0.00003
NM_001242896.3(DEPDC5):c.3746G>A (p.Arg1249Gln) rs747454808 0.00003
NM_001242896.3(DEPDC5):c.3871C>T (p.Arg1291Cys) rs202227830 0.00003
NM_001242896.3(DEPDC5):c.4033+5A>G rs886039270 0.00003
NM_001242896.3(DEPDC5):c.4580G>A (p.Arg1527Gln) rs200552561 0.00003
NM_001242896.3(DEPDC5):c.4756C>T (p.Arg1586Trp) rs768925194 0.00003
NM_001242896.3(DEPDC5):c.500C>T (p.Thr167Met) rs575683658 0.00003
NM_001242896.3(DEPDC5):c.944A>G (p.Asn315Ser) rs555944888 0.00003
NM_001242896.3(DEPDC5):c.1078A>G (p.Asn360Asp) rs751948408 0.00002
NM_001242896.3(DEPDC5):c.1404G>T (p.Arg468Ser) rs544863765 0.00002
NM_001242896.3(DEPDC5):c.1411G>A (p.Gly471Ser) rs756780050 0.00002
NM_001242896.3(DEPDC5):c.1445+6C>T rs1275802105 0.00002
NM_001242896.3(DEPDC5):c.1459C>G (p.Arg487Gly) rs587777459 0.00002
NM_001242896.3(DEPDC5):c.1475G>A (p.Arg492Gln) rs745893053 0.00002
NM_001242896.3(DEPDC5):c.1729G>A (p.Val577Ile) rs573430885 0.00002
NM_001242896.3(DEPDC5):c.1775C>T (p.Thr592Met) rs187222350 0.00002
NM_001242896.3(DEPDC5):c.1960T>C (p.Ser654Pro) rs774477005 0.00002
NM_001242896.3(DEPDC5):c.2006+3G>A rs752184633 0.00002
NM_001242896.3(DEPDC5):c.2519T>C (p.Leu840Pro) rs746197380 0.00002
NM_001242896.3(DEPDC5):c.2699A>G (p.Glu900Gly) rs755495732 0.00002
NM_001242896.3(DEPDC5):c.2995C>T (p.Arg999Trp) rs375050296 0.00002
NM_001242896.3(DEPDC5):c.3068C>T (p.Thr1023Met) rs780752142 0.00002
NM_001242896.3(DEPDC5):c.3247A>C (p.Met1083Leu) rs768817912 0.00002
NM_001242896.3(DEPDC5):c.3269G>A (p.Gly1090Glu) rs1217171263 0.00002
NM_001242896.3(DEPDC5):c.3823G>A (p.Ala1275Thr) rs1453526282 0.00002
NM_001242896.3(DEPDC5):c.3827C>T (p.Thr1276Ile) rs780045152 0.00002
NM_001242896.3(DEPDC5):c.3836A>G (p.His1279Arg) rs201765981 0.00002
NM_001242896.3(DEPDC5):c.3956G>A (p.Arg1319Gln) rs777643503 0.00002
NM_001242896.3(DEPDC5):c.483+4A>G rs369403922 0.00002
NM_001242896.3(DEPDC5):c.504G>A (p.Ser168=) rs577652236 0.00002
NM_001242896.3(DEPDC5):c.95A>G (p.His32Arg) rs760541660 0.00002
NM_001242896.3(DEPDC5):c.1010C>T (p.Thr337Met) rs1037878155 0.00001
NM_001242896.3(DEPDC5):c.1015G>A (p.Gly339Arg) rs761634410 0.00001
NM_001242896.3(DEPDC5):c.1040G>A (p.Arg347His) rs760668998 0.00001
NM_001242896.3(DEPDC5):c.1261C>G (p.Pro421Ala) rs764297665 0.00001
NM_001242896.3(DEPDC5):c.1272A>T (p.Lys424Asn) rs1406415856 0.00001
NM_001242896.3(DEPDC5):c.1273C>G (p.Leu425Val) rs2087513191 0.00001
NM_001242896.3(DEPDC5):c.1287+3A>G rs750267006 0.00001
NM_001242896.3(DEPDC5):c.1315C>T (p.Arg439Cys) rs777306555 0.00001
NM_001242896.3(DEPDC5):c.1325-10T>C rs752612331 0.00001
NM_001242896.3(DEPDC5):c.1339A>G (p.Lys447Glu) rs756972161 0.00001
NM_001242896.3(DEPDC5):c.1381G>A (p.Ala461Thr) rs771161131 0.00001
NM_001242896.3(DEPDC5):c.1385A>G (p.Tyr462Cys) rs747546981 0.00001
NM_001242896.3(DEPDC5):c.1393C>G (p.Gln465Glu) rs886039260 0.00001
NM_001242896.3(DEPDC5):c.1421G>A (p.Arg474Gln) rs1349979537 0.00001
NM_001242896.3(DEPDC5):c.1454G>A (p.Arg485Gln) rs886039278 0.00001
NM_001242896.3(DEPDC5):c.1460G>A (p.Arg487Gln) rs775080915 0.00001
NM_001242896.3(DEPDC5):c.1489T>C (p.Ser497Pro) rs1181000748 0.00001
NM_001242896.3(DEPDC5):c.1550G>A (p.Arg517Lys) rs765781653 0.00001
NM_001242896.3(DEPDC5):c.1594A>G (p.Ile532Val) rs764496748 0.00001
NM_001242896.3(DEPDC5):c.1609C>T (p.His537Tyr) rs1314485669 0.00001
NM_001242896.3(DEPDC5):c.1610A>G (p.His537Arg) rs988963661 0.00001
NM_001242896.3(DEPDC5):c.1664G>A (p.Arg555Gln) rs199688798 0.00001
NM_001242896.3(DEPDC5):c.1666G>A (p.Asp556Asn) rs1064795160 0.00001
NM_001242896.3(DEPDC5):c.167A>G (p.Lys56Arg) rs966689579 0.00001
NM_001242896.3(DEPDC5):c.1700G>A (p.Arg567Gln) rs985499891 0.00001
NM_001242896.3(DEPDC5):c.1704C>G (p.Asp568Glu) rs1236432902 0.00001
NM_001242896.3(DEPDC5):c.1720A>G (p.Arg574Gly) rs762484005 0.00001
NM_001242896.3(DEPDC5):c.1777C>T (p.Pro593Ser) rs777632867 0.00001
NM_001242896.3(DEPDC5):c.1782G>C (p.Gln594His) rs1446743254 0.00001
NM_001242896.3(DEPDC5):c.1794T>G (p.Ile598Met) rs918653735 0.00001
NM_001242896.3(DEPDC5):c.1888A>G (p.Ile630Val) rs775666547 0.00001
NM_001242896.3(DEPDC5):c.1936A>G (p.Ser646Gly) rs377294383 0.00001
NM_001242896.3(DEPDC5):c.194-3T>C rs749093030 0.00001
NM_001242896.3(DEPDC5):c.2006+4A>G rs758150938 0.00001
NM_001242896.3(DEPDC5):c.2098G>T (p.Gly700Cys) rs767158228 0.00001
NM_001242896.3(DEPDC5):c.20A>G (p.Tyr7Cys) rs748813142 0.00001
NM_001242896.3(DEPDC5):c.2161C>A (p.Pro721Thr) rs568282457 0.00001
NM_001242896.3(DEPDC5):c.2281C>T (p.Pro761Ser) rs2091060364 0.00001
NM_001242896.3(DEPDC5):c.2335C>G (p.Pro779Ala) rs756599738 0.00001
NM_001242896.3(DEPDC5):c.2341G>C (p.Ala781Pro) rs761280493 0.00001
NM_001242896.3(DEPDC5):c.2354+6T>C rs2091065559 0.00001
NM_001242896.3(DEPDC5):c.2387A>G (p.Gln796Arg) rs1219014589 0.00001
NM_001242896.3(DEPDC5):c.2444T>C (p.Val815Ala) rs777644077 0.00001
NM_001242896.3(DEPDC5):c.2482C>T (p.Pro828Ser) rs200526736 0.00001
NM_001242896.3(DEPDC5):c.2519T>A (p.Leu840His) rs746197380 0.00001
NM_001242896.3(DEPDC5):c.2528G>A (p.Arg843Gln) rs756611357 0.00001
NM_001242896.3(DEPDC5):c.2533C>T (p.Arg845Cys) rs780652126 0.00001
NM_001242896.3(DEPDC5):c.2534G>A (p.Arg845His) rs1396979413 0.00001
NM_001242896.3(DEPDC5):c.2550C>G (p.Asp850Glu) rs774408944 0.00001
NM_001242896.3(DEPDC5):c.257A>G (p.Tyr86Cys) rs377039864 0.00001
NM_001242896.3(DEPDC5):c.2590A>T (p.Thr864Ser) rs752198928 0.00001
NM_001242896.3(DEPDC5):c.2618C>T (p.Thr873Met) rs2091503304 0.00001
NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile) rs768456731 0.00001
NM_001242896.3(DEPDC5):c.2690C>T (p.Ser897Leu) rs371496533 0.00001
NM_001242896.3(DEPDC5):c.2731G>A (p.Glu911Lys) rs1214608865 0.00001
NM_001242896.3(DEPDC5):c.2735G>A (p.Arg912Gln) rs781159677 0.00001
NM_001242896.3(DEPDC5):c.280-5T>C rs1478867993 0.00001
NM_001242896.3(DEPDC5):c.2834G>A (p.Arg945His) rs772897391 0.00001
NM_001242896.3(DEPDC5):c.2863G>A (p.Ala955Thr) rs538998618 0.00001
NM_001242896.3(DEPDC5):c.2879C>T (p.Thr960Met) rs1064795107 0.00001
NM_001242896.3(DEPDC5):c.2890G>A (p.Ala964Thr) rs780008727 0.00001
NM_001242896.3(DEPDC5):c.2894A>G (p.His965Arg) rs2091648587 0.00001
NM_001242896.3(DEPDC5):c.28G>A (p.Val10Ile) rs375027042 0.00001
NM_001242896.3(DEPDC5):c.2942A>G (p.Gln981Arg) rs763270938 0.00001
NM_001242896.3(DEPDC5):c.298G>A (p.Val100Met) rs797045522 0.00001
NM_001242896.3(DEPDC5):c.3008A>G (p.Asp1003Gly) rs1413417458 0.00001
NM_001242896.3(DEPDC5):c.3011G>A (p.Arg1004His) rs754059546 0.00001
NM_001242896.3(DEPDC5):c.3017T>C (p.Met1006Thr) rs935896142 0.00001
NM_001242896.3(DEPDC5):c.3019C>T (p.Arg1007Trp) rs1283955876 0.00001
NM_001242896.3(DEPDC5):c.3020G>A (p.Arg1007Gln) rs758260908 0.00001
NM_001242896.3(DEPDC5):c.302A>T (p.Glu101Val) rs1395076142 0.00001
NM_001242896.3(DEPDC5):c.3049A>G (p.Met1017Val) rs777729993 0.00001
NM_001242896.3(DEPDC5):c.3071A>C (p.His1024Pro) rs779166833 0.00001
NM_001242896.3(DEPDC5):c.307A>T (p.Thr103Ser) rs778746859 0.00001
NM_001242896.3(DEPDC5):c.3097G>T (p.Val1033Leu) rs376313159 0.00001
NM_001242896.3(DEPDC5):c.3158G>T (p.Cys1053Phe) rs771407307 0.00001
NM_001242896.3(DEPDC5):c.3202G>A (p.Ala1068Thr) rs763158282 0.00001
NM_001242896.3(DEPDC5):c.3203C>T (p.Ala1068Val) rs763883192 0.00001
NM_001242896.3(DEPDC5):c.3212C>T (p.Ala1071Val) rs750296306 0.00001
NM_001242896.3(DEPDC5):c.3220A>G (p.Ser1074Gly) rs778292246 0.00001
NM_001242896.3(DEPDC5):c.3232A>G (p.Met1078Val) rs746349872 0.00001
NM_001242896.3(DEPDC5):c.3256C>T (p.Pro1086Ser) rs914056153 0.00001
NM_001242896.3(DEPDC5):c.3268G>A (p.Gly1090Arg) rs1490171877 0.00001
NM_001242896.3(DEPDC5):c.3272C>T (p.Ala1091Val) rs772812141 0.00001
NM_001242896.3(DEPDC5):c.3293G>A (p.Arg1098His) rs1185705971 0.00001
NM_001242896.3(DEPDC5):c.3319T>C (p.Phe1107Leu) rs1481478267 0.00001
NM_001242896.3(DEPDC5):c.3367G>A (p.Gly1123Ser) rs752667037 0.00001
NM_001242896.3(DEPDC5):c.3377T>G (p.Leu1126Trp) rs1209384122 0.00001
NM_001242896.3(DEPDC5):c.3380G>A (p.Gly1127Asp) rs941078167 0.00001
NM_001242896.3(DEPDC5):c.3385T>C (p.Cys1129Arg) rs1037109139 0.00001
NM_001242896.3(DEPDC5):c.3398C>T (p.Ser1133Phe) rs1199651277 0.00001
NM_001242896.3(DEPDC5):c.347G>A (p.Arg116Gln) rs777623410 0.00001
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn) rs865860087 0.00001
NM_001242896.3(DEPDC5):c.3564-3C>G rs2092931141 0.00001
NM_001242896.3(DEPDC5):c.3605C>T (p.Pro1202Leu) rs780318358 0.00001
NM_001242896.3(DEPDC5):c.3623C>T (p.Ala1208Val) rs772280549 0.00001
NM_001242896.3(DEPDC5):c.363+5G>C rs2082845308 0.00001
NM_001242896.3(DEPDC5):c.3652G>A (p.Val1218Met) rs752695099 0.00001
NM_001242896.3(DEPDC5):c.3695A>G (p.Gln1232Arg) rs1161767456 0.00001
NM_001242896.3(DEPDC5):c.3736G>A (p.Glu1246Lys) rs1278012679 0.00001
NM_001242896.3(DEPDC5):c.373T>C (p.Cys125Arg) rs778986487 0.00001
NM_001242896.3(DEPDC5):c.3780A>G (p.Ile1260Met) rs1245190784 0.00001
NM_001242896.3(DEPDC5):c.3811A>G (p.Met1271Val) rs373588101 0.00001
NM_001242896.3(DEPDC5):c.3853G>A (p.Asp1285Asn) rs746938769 0.00001
NM_001242896.3(DEPDC5):c.3872G>A (p.Arg1291His) rs759266712 0.00001
NM_001242896.3(DEPDC5):c.3910G>A (p.Val1304Met) rs750936617 0.00001
NM_001242896.3(DEPDC5):c.3968A>G (p.Tyr1323Cys) rs1346869002 0.00001
NM_001242896.3(DEPDC5):c.3999T>G (p.Ser1333Arg) rs1310040868 0.00001
NM_001242896.3(DEPDC5):c.4014C>G (p.Ser1338Arg) rs1384860628 0.00001
NM_001242896.3(DEPDC5):c.4096C>T (p.Arg1366Trp) rs1014849515 0.00001
NM_001242896.3(DEPDC5):c.4097G>A (p.Arg1366Gln) rs1064795095 0.00001
NM_001242896.3(DEPDC5):c.4124A>G (p.His1375Arg) rs1260083367 0.00001
NM_001242896.3(DEPDC5):c.4203+16C>T rs2093490070 0.00001
NM_001242896.3(DEPDC5):c.4299C>A (p.Asp1433Glu) rs753759814 0.00001
NM_001242896.3(DEPDC5):c.4300C>T (p.Pro1434Ser) rs1188012593 0.00001
NM_001242896.3(DEPDC5):c.4306C>T (p.Arg1436Cys) rs778323702 0.00001
NM_001242896.3(DEPDC5):c.4307G>A (p.Arg1436His) rs948206788 0.00001
NM_001242896.3(DEPDC5):c.4331A>C (p.Asn1444Thr) rs758019161 0.00001
NM_001242896.3(DEPDC5):c.4354G>A (p.Gly1452Ser) rs1452980660 0.00001
NM_001242896.3(DEPDC5):c.4359C>T (p.Ser1453=) rs377333936 0.00001
NM_001242896.3(DEPDC5):c.4407G>A (p.Met1469Ile) rs2093652679 0.00001
NM_001242896.3(DEPDC5):c.4505A>C (p.Tyr1502Ser) rs925107113 0.00001
NM_001242896.3(DEPDC5):c.4571A>G (p.Gln1524Arg) rs377585542 0.00001
NM_001242896.3(DEPDC5):c.4574G>A (p.Arg1525Gln) rs370366925 0.00001
NM_001242896.3(DEPDC5):c.4577G>A (p.Arg1526Gln) rs760341957 0.00001
NM_001242896.3(DEPDC5):c.4583G>A (p.Arg1528Gln) rs758757956 0.00001
NM_001242896.3(DEPDC5):c.4592C>T (p.Thr1531Ile) rs1064794532 0.00001
NM_001242896.3(DEPDC5):c.4594A>G (p.Ser1532Gly) rs752046892 0.00001
NM_001242896.3(DEPDC5):c.4601C>G (p.Thr1534Ser) rs376838464 0.00001
NM_001242896.3(DEPDC5):c.4628G>A (p.Arg1543Gln) rs749089911 0.00001
NM_001242896.3(DEPDC5):c.4630G>A (p.Val1544Ile) rs768487257 0.00001
NM_001242896.3(DEPDC5):c.4635C>G (p.Gly1545=) rs41279981 0.00001
NM_001242896.3(DEPDC5):c.469A>T (p.Ser157Cys) rs201225084 0.00001
NM_001242896.3(DEPDC5):c.4711C>T (p.Arg1571Trp) rs778708641 0.00001
NM_001242896.3(DEPDC5):c.4712G>A (p.Arg1571Gln) rs748114243 0.00001
NM_001242896.3(DEPDC5):c.4727T>G (p.Phe1576Cys) rs1025857773 0.00001
NM_001242896.3(DEPDC5):c.4745A>G (p.Asn1582Ser) rs1415667624 0.00001
NM_001242896.3(DEPDC5):c.4747C>T (p.Arg1583Cys) rs759170497 0.00001
NM_001242896.3(DEPDC5):c.4757G>A (p.Arg1586Gln) rs774659889 0.00001
NM_001242896.3(DEPDC5):c.4795C>T (p.His1599Tyr) rs766418499 0.00001
NM_001242896.3(DEPDC5):c.4808C>T (p.Pro1603Leu) rs755174447 0.00001
NM_001242896.3(DEPDC5):c.490T>G (p.Phe164Val) rs1359773870 0.00001
NM_001242896.3(DEPDC5):c.499A>G (p.Thr167Ala) rs374309503 0.00001
NM_001242896.3(DEPDC5):c.503C>T (p.Ser168Leu) rs377718352 0.00001
NM_001242896.3(DEPDC5):c.554A>G (p.Asp185Gly) rs2084720246 0.00001
NM_001242896.3(DEPDC5):c.590_592del (p.Asn197_Gly198delinsSer) rs752918565 0.00001
NM_001242896.3(DEPDC5):c.638G>C (p.Ser213Thr) rs374290113 0.00001
NM_001242896.3(DEPDC5):c.722C>T (p.Ser241Leu) rs1397187284 0.00001
NM_001242896.3(DEPDC5):c.724A>G (p.Ile242Val) rs112040696 0.00001
NM_001242896.3(DEPDC5):c.728G>A (p.Arg243Gln) rs368129922 0.00001
NM_001242896.3(DEPDC5):c.763T>C (p.Tyr255His) rs372371916 0.00001
NM_001242896.3(DEPDC5):c.821T>C (p.Ile274Thr) rs1172897578 0.00001
NM_001242896.3(DEPDC5):c.946+20A>G rs2086531822 0.00001
NM_001242896.3(DEPDC5):c.953A>G (p.Asp318Gly) rs1064795102 0.00001
NM_001242896.3(DEPDC5):c.983G>A (p.Arg328Gln) rs775605247 0.00001
NC_000022.10:g.(?_32150888)_(32154639_?)dup
NC_000022.10:g.(?_32150888)_(32164869_?)dup
NC_000022.10:g.(?_32150908)_(32154639_?)dup
NC_000022.10:g.(?_32150908)_(32302483_?)dup
NC_000022.10:g.(?_32154522)_(32156698_?)del
NC_000022.10:g.(?_32162551)_(32162674_?)del
NC_000022.10:g.(?_32193566)_(32200921_?)del
NC_000022.10:g.(?_32198670)_(32198844_?)dup
NC_000022.10:g.(?_32253411)_(32302503_?)dup
NC_000022.10:g.(?_32289548)_(32302483_?)dup
NC_000022.10:g.(?_32297708)_(32302483_?)dup
NC_000022.10:g.(?_32297708)_(32302503_?)dup
NC_000022.11:g.(?_31798562)_(31798676_?)del
NC_000022.11:g.(?_31893562)_(31897673_?)del
NM_000484.4:c.226-7082_355+12976del
NM_001242896.3(DEPDC5):c.1010C>G (p.Thr337Arg) rs1037878155
NM_001242896.3(DEPDC5):c.1018G>T (p.Val340Leu)
NM_001242896.3(DEPDC5):c.1022G>T (p.Gly341Val)
NM_001242896.3(DEPDC5):c.1036G>A (p.Asp346Asn) rs372461930
NM_001242896.3(DEPDC5):c.1036G>C (p.Asp346His) rs372461930
NM_001242896.3(DEPDC5):c.1038C>G (p.Asp346Glu) rs1394753838
NM_001242896.3(DEPDC5):c.1055T>C (p.Leu352Pro)
NM_001242896.3(DEPDC5):c.1064A>G (p.Gln355Arg)
NM_001242896.3(DEPDC5):c.1066C>T (p.Arg356Trp)
NM_001242896.3(DEPDC5):c.1071G>A (p.Met357Ile)
NM_001242896.3(DEPDC5):c.1074A>G (p.Ile358Met) rs1161069560
NM_001242896.3(DEPDC5):c.1081+4A>G rs757563918
NM_001242896.3(DEPDC5):c.1111G>A (p.Glu371Lys)
NM_001242896.3(DEPDC5):c.1118C>A (p.Pro373Gln) rs2148649494
NM_001242896.3(DEPDC5):c.1123C>T (p.His375Tyr)
NM_001242896.3(DEPDC5):c.1124A>G (p.His375Arg) rs748422973
NM_001242896.3(DEPDC5):c.113T>C (p.Ile38Thr)
NM_001242896.3(DEPDC5):c.1142A>G (p.Lys381Arg)
NM_001242896.3(DEPDC5):c.1143+6T>G rs746751382
NM_001242896.3(DEPDC5):c.1159G>A (p.Ala387Thr)
NM_001242896.3(DEPDC5):c.1159G>C (p.Ala387Pro)
NM_001242896.3(DEPDC5):c.1160C>T (p.Ala387Val) rs1054663967
NM_001242896.3(DEPDC5):c.1162C>T (p.Pro388Ser)
NM_001242896.3(DEPDC5):c.1168G>A (p.Asp390Asn)
NM_001242896.3(DEPDC5):c.1169A>G (p.Asp390Gly)
NM_001242896.3(DEPDC5):c.1174C>T (p.Arg392Cys) rs1028964149
NM_001242896.3(DEPDC5):c.1175G>A (p.Arg392His)
NM_001242896.3(DEPDC5):c.1175G>C (p.Arg392Pro)
NM_001242896.3(DEPDC5):c.1183G>A (p.Asp395Asn)
NM_001242896.3(DEPDC5):c.1190A>G (p.Tyr397Cys)
NM_001242896.3(DEPDC5):c.1202A>G (p.His401Arg)
NM_001242896.3(DEPDC5):c.1214A>G (p.His405Arg)
NM_001242896.3(DEPDC5):c.1218-13G>C
NM_001242896.3(DEPDC5):c.1223A>G (p.Tyr408Cys) rs1602010347
NM_001242896.3(DEPDC5):c.1234A>G (p.Ser412Gly)
NM_001242896.3(DEPDC5):c.1234_1235delinsTA (p.Ser412Tyr) rs1602010588
NM_001242896.3(DEPDC5):c.1247G>T (p.Cys416Phe) rs767747105
NM_001242896.3(DEPDC5):c.1249A>G (p.Asn417Asp) rs763518514
NM_001242896.3(DEPDC5):c.1249A>T (p.Asn417Tyr) rs763518514
NM_001242896.3(DEPDC5):c.1250A>G (p.Asn417Ser) rs2148665599
NM_001242896.3(DEPDC5):c.1253G>T (p.Ser418Ile) rs2087510561
NM_001242896.3(DEPDC5):c.1269A>G (p.Ile423Met) rs778795541
NM_001242896.3(DEPDC5):c.1287+15_1287+16del rs2148665907
NM_001242896.3(DEPDC5):c.1287+4G>C
NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr) rs777844378
NM_001242896.3(DEPDC5):c.129C>A (p.His43Gln)
NM_001242896.3(DEPDC5):c.130C>T (p.Pro44Ser)
NM_001242896.3(DEPDC5):c.1312G>A (p.Gly438Ser)
NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)
NM_001242896.3(DEPDC5):c.1324+5G>A
NM_001242896.3(DEPDC5):c.1325-12T>A
NM_001242896.3(DEPDC5):c.1369G>A (p.Val457Ile)
NM_001242896.3(DEPDC5):c.1374T>A (p.Asp458Glu)
NM_001242896.3(DEPDC5):c.137A>T (p.Asp46Val)
NM_001242896.3(DEPDC5):c.1382C>T (p.Ala461Val) rs2148707510
NM_001242896.3(DEPDC5):c.1384T>C (p.Tyr462His) rs2148707527
NM_001242896.3(DEPDC5):c.140A>G (p.Glu47Gly) rs2082129391
NM_001242896.3(DEPDC5):c.1412G>A (p.Gly471Asp) rs1351408059
NM_001242896.3(DEPDC5):c.1414C>T (p.Pro472Ser)
NM_001242896.3(DEPDC5):c.1420C>T (p.Arg474Trp)
NM_001242896.3(DEPDC5):c.1432C>G (p.Leu478Val)
NM_001242896.3(DEPDC5):c.1436C>T (p.Thr479Ile) rs1602054541
NM_001242896.3(DEPDC5):c.1439C>T (p.Thr480Ile)
NM_001242896.3(DEPDC5):c.1441T>C (p.Cys481Arg) rs2148708095
NM_001242896.3(DEPDC5):c.1442G>T (p.Cys481Phe) rs2088176060
NM_001242896.3(DEPDC5):c.1443C>T (p.Cys481=)
NM_001242896.3(DEPDC5):c.1445+5T>G rs894048763
NM_001242896.3(DEPDC5):c.1445+6C>G rs1275802105
NM_001242896.3(DEPDC5):c.1446-3C>T
NM_001242896.3(DEPDC5):c.147-3C>G rs1398851556
NM_001242896.3(DEPDC5):c.1471A>C (p.Ser491Arg) rs2148758633
NM_001242896.3(DEPDC5):c.1490C>G (p.Ser497Cys)
NM_001242896.3(DEPDC5):c.14A>G (p.Lys5Arg)
NM_001242896.3(DEPDC5):c.1520C>G (p.Pro507Arg)
NM_001242896.3(DEPDC5):c.1526G>A (p.Arg509His) rs372489331
NM_001242896.3(DEPDC5):c.1526G>T (p.Arg509Leu) rs372489331
NM_001242896.3(DEPDC5):c.1538C>T (p.Thr513Ile)
NM_001242896.3(DEPDC5):c.1549A>G (p.Arg517Gly)
NM_001242896.3(DEPDC5):c.1557G>C (p.Gln519His) rs2148759335
NM_001242896.3(DEPDC5):c.155T>A (p.Leu52His) rs2148027396
NM_001242896.3(DEPDC5):c.1566C>A (p.Asp522Glu)
NM_001242896.3(DEPDC5):c.1573T>C (p.Ser525Pro) rs369966456
NM_001242896.3(DEPDC5):c.1580G>T (p.Gly527Val)
NM_001242896.3(DEPDC5):c.1589C>T (p.Ala530Val) rs2148759614
NM_001242896.3(DEPDC5):c.1607C>A (p.Pro536Gln)
NM_001242896.3(DEPDC5):c.1640G>A (p.Ser547Asn) rs1483477312
NM_001242896.3(DEPDC5):c.1640G>C (p.Ser547Thr) rs1483477312
NM_001242896.3(DEPDC5):c.1642T>C (p.Ser548Pro) rs2148760176
NM_001242896.3(DEPDC5):c.1647G>C (p.Leu549Phe) rs2148760235
NM_001242896.3(DEPDC5):c.1657A>G (p.Ser553Gly) rs1555885142
NM_001242896.3(DEPDC5):c.1663C>G (p.Arg555Gly)
NM_001242896.3(DEPDC5):c.1666+6A>G rs1323258551
NM_001242896.3(DEPDC5):c.1681A>G (p.Met561Val)
NM_001242896.3(DEPDC5):c.1683G>C (p.Met561Ile)
NM_001242896.3(DEPDC5):c.1684A>G (p.Met562Val)
NM_001242896.3(DEPDC5):c.1697A>G (p.Gln566Arg)
NM_001242896.3(DEPDC5):c.170C>A (p.Ser57Tyr) rs2148027642
NM_001242896.3(DEPDC5):c.1729G>C (p.Val577Leu)
NM_001242896.3(DEPDC5):c.1749G>A (p.Met583Ile)
NM_001242896.3(DEPDC5):c.175A>G (p.Lys59Glu)
NM_001242896.3(DEPDC5):c.1766G>A (p.Gly589Asp) rs2148801784
NM_001242896.3(DEPDC5):c.1786G>A (p.Ala596Thr)
NM_001242896.3(DEPDC5):c.1795A>T (p.Asn599Tyr)
NM_001242896.3(DEPDC5):c.1811C>T (p.Ser604Phe)
NM_001242896.3(DEPDC5):c.1813C>T (p.Arg605Trp) rs1335111412
NM_001242896.3(DEPDC5):c.1814G>A (p.Arg605Gln) rs760696765
NM_001242896.3(DEPDC5):c.1838A>G (p.Asn613Ser) rs2089445867
NM_001242896.3(DEPDC5):c.1858A>G (p.Thr620Ala)
NM_001242896.3(DEPDC5):c.1870G>C (p.Gly624Arg)
NM_001242896.3(DEPDC5):c.1871-8C>G
NM_001242896.3(DEPDC5):c.1871_1872delinsAT (p.Gly624Asp)
NM_001242896.3(DEPDC5):c.1877C>A (p.Ser626Tyr) rs2089694690
NM_001242896.3(DEPDC5):c.1890C>G (p.Ile630Met)
NM_001242896.3(DEPDC5):c.18C>T (p.Val6=)
NM_001242896.3(DEPDC5):c.1910G>A (p.Arg637Gln) rs751767527
NM_001242896.3(DEPDC5):c.1910G>T (p.Arg637Leu)
NM_001242896.3(DEPDC5):c.1921G>A (p.Ala641Thr)
NM_001242896.3(DEPDC5):c.193+15_193+18del rs2148028253
NM_001242896.3(DEPDC5):c.193+3A>G rs2148027911
NM_001242896.3(DEPDC5):c.193+5G>A rs2082316143
NM_001242896.3(DEPDC5):c.193+5G>T
NM_001242896.3(DEPDC5):c.1932A>C (p.Gln644His)
NM_001242896.3(DEPDC5):c.1934G>A (p.Gly645Asp) rs1342507454
NM_001242896.3(DEPDC5):c.1937G>A (p.Ser646Asn)
NM_001242896.3(DEPDC5):c.1939G>A (p.Gly647Arg)
NM_001242896.3(DEPDC5):c.1942C>A (p.Gln648Lys)
NM_001242896.3(DEPDC5):c.1948G>A (p.Asp650Asn)
NM_001242896.3(DEPDC5):c.1948G>T (p.Asp650Tyr)
NM_001242896.3(DEPDC5):c.1952C>A (p.Pro651Gln) rs768683931
NM_001242896.3(DEPDC5):c.1976T>A (p.Leu659Gln) rs2148822130
NM_001242896.3(DEPDC5):c.1987T>C (p.Tyr663His)
NM_001242896.3(DEPDC5):c.1991A>G (p.His664Arg)
NM_001242896.3(DEPDC5):c.1997C>T (p.Ala666Val) rs2089707651
NM_001242896.3(DEPDC5):c.1A>G (p.Met1Val) rs2147930155
NM_001242896.3(DEPDC5):c.2002G>A (p.Gly668Arg) rs2148822327
NM_001242896.3(DEPDC5):c.2006+17G>C
NM_001242896.3(DEPDC5):c.2007-13C>T
NM_001242896.3(DEPDC5):c.2007G>C (p.Arg669Ser)
NM_001242896.3(DEPDC5):c.2012G>A (p.Ser671Asn) rs2148829704
NM_001242896.3(DEPDC5):c.2015A>G (p.Asn672Ser)
NM_001242896.3(DEPDC5):c.2024A>G (p.Gln675Arg)
NM_001242896.3(DEPDC5):c.2032G>A (p.Asp678Asn)
NM_001242896.3(DEPDC5):c.2036G>A (p.Gly679Asp) rs865876158
NM_001242896.3(DEPDC5):c.2037C>T (p.Gly679=) rs2148830009
NM_001242896.3(DEPDC5):c.2055C>G (p.Phe685Leu) rs61731667
NM_001242896.3(DEPDC5):c.2056A>G (p.Ser686Gly)
NM_001242896.3(DEPDC5):c.2101G>A (p.Ala701Thr) rs2089821108
NM_001242896.3(DEPDC5):c.2102C>T (p.Ala701Val)
NM_001242896.3(DEPDC5):c.2103A>G (p.Ala701=)
NM_001242896.3(DEPDC5):c.2118G>C (p.Arg706Ser)
NM_001242896.3(DEPDC5):c.2120C>A (p.Thr707Asn)
NM_001242896.3(DEPDC5):c.2122C>G (p.Gln708Glu) rs2148924357
NM_001242896.3(DEPDC5):c.2147G>A (p.Ser716Asn)
NM_001242896.3(DEPDC5):c.2159C>T (p.Ser720Phe)
NM_001242896.3(DEPDC5):c.2164G>C (p.Asp722His)
NM_001242896.3(DEPDC5):c.2168C>G (p.Pro723Arg)
NM_001242896.3(DEPDC5):c.2171-11dup rs769116792
NM_001242896.3(DEPDC5):c.2177C>T (p.Thr726Ile) rs1569059850
NM_001242896.3(DEPDC5):c.2188C>T (p.Pro730Ser)
NM_001242896.3(DEPDC5):c.2199_2201dup (p.Pro734_Gly735insPro)
NM_001242896.3(DEPDC5):c.2200C>T (p.Pro734Ser) rs1348865744
NM_001242896.3(DEPDC5):c.2204G>A (p.Gly735Asp) rs2091055448
NM_001242896.3(DEPDC5):c.2210G>A (p.Cys737Tyr)
NM_001242896.3(DEPDC5):c.2222G>A (p.Gly741Glu)
NM_001242896.3(DEPDC5):c.224A>C (p.Gln75Pro) rs2082695082
NM_001242896.3(DEPDC5):c.2288G>T (p.Arg763Leu) rs542384516
NM_001242896.3(DEPDC5):c.233G>A (p.Arg78Gln) rs373578854
NM_001242896.3(DEPDC5):c.2350G>A (p.Asp784Asn) rs776885208
NM_001242896.3(DEPDC5):c.2354G>A (p.Arg785Lys) rs1346133779
NM_001242896.3(DEPDC5):c.2356A>G (p.Arg786Gly)
NM_001242896.3(DEPDC5):c.2366A>G (p.Asp789Gly)
NM_001242896.3(DEPDC5):c.2371G>A (p.Val791Met)
NM_001242896.3(DEPDC5):c.2416C>T (p.Arg806Cys) rs953743301
NM_001242896.3(DEPDC5):c.2422A>G (p.Met808Val) rs1555897260
NM_001242896.3(DEPDC5):c.2424G>T (p.Met808Ile)
NM_001242896.3(DEPDC5):c.2440A>G (p.Ile814Val)
NM_001242896.3(DEPDC5):c.2442A>G (p.Ile814Met)
NM_001242896.3(DEPDC5):c.2458C>A (p.Gln820Lys) rs2148968487
NM_001242896.3(DEPDC5):c.2464C>T (p.Pro822Ser) rs781677679
NM_001242896.3(DEPDC5):c.2465C>T (p.Pro822Leu)
NM_001242896.3(DEPDC5):c.2470C>T (p.Pro824Ser) rs1357973408
NM_001242896.3(DEPDC5):c.2471C>G (p.Pro824Arg) rs2148968635
NM_001242896.3(DEPDC5):c.2476G>T (p.Val826Phe) rs1468914738
NM_001242896.3(DEPDC5):c.2482C>A (p.Pro828Thr) rs200526736
NM_001242896.3(DEPDC5):c.2521G>A (p.Val841Met) rs1555899402
NM_001242896.3(DEPDC5):c.2554T>C (p.Tyr852His) rs181352850
NM_001242896.3(DEPDC5):c.2557T>G (p.Trp853Gly)
NM_001242896.3(DEPDC5):c.2558G>C (p.Trp853Ser)
NM_001242896.3(DEPDC5):c.2560C>G (p.Leu854Val) rs1602350218
NM_001242896.3(DEPDC5):c.2568G>C (p.Met856Ile)
NM_001242896.3(DEPDC5):c.256T>C (p.Tyr86His) rs752067925
NM_001242896.3(DEPDC5):c.2578T>C (p.Phe860Leu)
NM_001242896.3(DEPDC5):c.2581C>T (p.His861Tyr) rs2149004473
NM_001242896.3(DEPDC5):c.2583C>G (p.His861Gln)
NM_001242896.3(DEPDC5):c.2588T>C (p.Val863Ala) rs1254155768
NM_001242896.3(DEPDC5):c.2590A>G (p.Thr864Ala) rs752198928
NM_001242896.3(DEPDC5):c.2608A>G (p.Ile870Val) rs573955848
NM_001242896.3(DEPDC5):c.2621G>A (p.Arg874Gln) rs1602350746
NM_001242896.3(DEPDC5):c.2632A>C (p.Lys878Gln)
NM_001242896.3(DEPDC5):c.2633+5G>A rs2149004867
NM_001242896.3(DEPDC5):c.2650G>A (p.Ala884Thr)
NM_001242896.3(DEPDC5):c.2651C>T (p.Ala884Val) rs2149008615
NM_001242896.3(DEPDC5):c.2657T>C (p.Ile886Thr) rs2149008707
NM_001242896.3(DEPDC5):c.2659C>A (p.His887Asn) rs751284078
NM_001242896.3(DEPDC5):c.2660A>T (p.His887Leu)
NM_001242896.3(DEPDC5):c.2661C>A (p.His887Gln) rs1555899801
NM_001242896.3(DEPDC5):c.2663A>T (p.Tyr888Phe)
NM_001242896.3(DEPDC5):c.2666C>T (p.Thr889Ile) rs2149008846
NM_001242896.3(DEPDC5):c.2674C>T (p.Leu892Phe)
NM_001242896.3(DEPDC5):c.2692G>T (p.Asp898Tyr) rs1421058201
NM_001242896.3(DEPDC5):c.2702T>C (p.Phe901Ser)
NM_001242896.3(DEPDC5):c.2707T>C (p.Ser903Pro)
NM_001242896.3(DEPDC5):c.2710T>G (p.Cys904Gly)
NM_001242896.3(DEPDC5):c.2715G>C (p.Trp905Cys) rs1261463857
NM_001242896.3(DEPDC5):c.2725T>G (p.Ser909Ala)
NM_001242896.3(DEPDC5):c.2734C>T (p.Arg912Trp) rs528863179
NM_001242896.3(DEPDC5):c.2735G>T (p.Arg912Leu)
NM_001242896.3(DEPDC5):c.2745G>T (p.Glu915Asp) rs373602490
NM_001242896.3(DEPDC5):c.2750A>G (p.Lys917Arg)
NM_001242896.3(DEPDC5):c.275C>G (p.Pro92Arg)
NM_001242896.3(DEPDC5):c.2767C>G (p.Gln923Glu) rs2149009626
NM_001242896.3(DEPDC5):c.2768A>G (p.Gln923Arg)
NM_001242896.3(DEPDC5):c.2801+19G>T
NM_001242896.3(DEPDC5):c.2808T>G (p.Ile936Met) rs2091642875
NM_001242896.3(DEPDC5):c.280G>T (p.Asp94Tyr) rs2082839289
NM_001242896.3(DEPDC5):c.2816T>C (p.Leu939Pro)
NM_001242896.3(DEPDC5):c.2823C>G (p.Phe941Leu) rs1555900811
NM_001242896.3(DEPDC5):c.2839C>A (p.Leu947Met)
NM_001242896.3(DEPDC5):c.2846T>C (p.Leu949Pro)
NM_001242896.3(DEPDC5):c.286A>T (p.Thr96Ser)
NM_001242896.3(DEPDC5):c.2872C>T (p.Arg958Cys)
NM_001242896.3(DEPDC5):c.2884G>C (p.Gly962Arg)
NM_001242896.3(DEPDC5):c.2924C>T (p.Ala975Val)
NM_001242896.3(DEPDC5):c.2934C>A (p.Asp978Glu)
NM_001242896.3(DEPDC5):c.2935G>A (p.Glu979Lys) rs2091651367
NM_001242896.3(DEPDC5):c.2937G>C (p.Glu979Asp) rs1602368020
NM_001242896.3(DEPDC5):c.2953G>A (p.Gly985Ser)
NM_001242896.3(DEPDC5):c.2963G>T (p.Arg988Leu)
NM_001242896.3(DEPDC5):c.2984G>A (p.Arg995His)
NM_001242896.3(DEPDC5):c.2986A>G (p.Ile996Val) rs2149024866
NM_001242896.3(DEPDC5):c.2989C>T (p.Arg997Cys) rs1555900981
NM_001242896.3(DEPDC5):c.3010C>T (p.Arg1004Cys)
NM_001242896.3(DEPDC5):c.3016A>T (p.Met1006Leu)
NM_001242896.3(DEPDC5):c.3029C>T (p.Thr1010Ile)
NM_001242896.3(DEPDC5):c.3031G>A (p.Ala1011Thr) rs764941727
NM_001242896.3(DEPDC5):c.3031G>T (p.Ala1011Ser) rs764941727
NM_001242896.3(DEPDC5):c.3036G>A (p.Met1012Ile)
NM_001242896.3(DEPDC5):c.3050T>C (p.Met1017Thr)
NM_001242896.3(DEPDC5):c.3056G>C (p.Gly1019Ala)
NM_001242896.3(DEPDC5):c.3085A>C (p.Thr1029Pro) rs537257402
NM_001242896.3(DEPDC5):c.3091C>T (p.Pro1031Ser)
NM_001242896.3(DEPDC5):c.3094C>T (p.Pro1032Ser) rs770979723
NM_001242896.3(DEPDC5):c.3097G>A (p.Val1033Met) rs376313159
NM_001242896.3(DEPDC5):c.3097G>C (p.Val1033Leu) rs376313159
NM_001242896.3(DEPDC5):c.3138G>T (p.Glu1046Asp) rs2149038350
NM_001242896.3(DEPDC5):c.3155+5G>A
NM_001242896.3(DEPDC5):c.3169C>A (p.Gln1057Lys)
NM_001242896.3(DEPDC5):c.3169C>G (p.Gln1057Glu) rs1602471069
NM_001242896.3(DEPDC5):c.3169CAG[1] (p.Gln1058del) rs2149117083
NM_001242896.3(DEPDC5):c.3170A>C (p.Gln1057Pro) rs2092345185
NM_001242896.3(DEPDC5):c.3187G>C (p.Gly1063Arg) rs2149117292
NM_001242896.3(DEPDC5):c.3188G>A (p.Gly1063Asp) rs2149117311
NM_001242896.3(DEPDC5):c.3202G>C (p.Ala1068Pro) rs763158282
NM_001242896.3(DEPDC5):c.3206A>G (p.Gln1069Arg)
NM_001242896.3(DEPDC5):c.3209C>T (p.Ser1070Leu)
NM_001242896.3(DEPDC5):c.3216G>C (p.Glu1072Asp) rs753608617
NM_001242896.3(DEPDC5):c.3218G>A (p.Ser1073Asn) rs375884815
NM_001242896.3(DEPDC5):c.3223A>G (p.Ser1075Gly) rs376555106
NM_001242896.3(DEPDC5):c.3224G>A (p.Ser1075Asn) rs1399730598
NM_001242896.3(DEPDC5):c.3226G>A (p.Val1076Ile)
NM_001242896.3(DEPDC5):c.3235A>G (p.Thr1079Ala) rs878854278
NM_001242896.3(DEPDC5):c.3236C>T (p.Thr1079Ile)
NM_001242896.3(DEPDC5):c.3242C>T (p.Thr1081Ile) rs2092348833
NM_001242896.3(DEPDC5):c.3247A>G (p.Met1083Val)
NM_001242896.3(DEPDC5):c.3256C>G (p.Pro1086Ala)
NM_001242896.3(DEPDC5):c.3257C>A (p.Pro1086Gln)
NM_001242896.3(DEPDC5):c.3259C>G (p.Arg1087Gly)
NM_001242896.3(DEPDC5):c.3292C>G (p.Arg1098Gly) rs777509933
NM_001242896.3(DEPDC5):c.3295A>G (p.Ser1099Gly)
NM_001242896.3(DEPDC5):c.329G>T (p.Gly110Val)
NM_001242896.3(DEPDC5):c.3301C>T (p.Arg1101Cys)
NM_001242896.3(DEPDC5):c.3305C>T (p.Thr1102Ile) rs528786894
NM_001242896.3(DEPDC5):c.3319T>G (p.Phe1107Val)
NM_001242896.3(DEPDC5):c.3323A>G (p.Tyr1108Cys)
NM_001242896.3(DEPDC5):c.3326C>T (p.Pro1109Leu)
NM_001242896.3(DEPDC5):c.3329A>G (p.Gln1110Arg) rs1555909576
NM_001242896.3(DEPDC5):c.332G>A (p.Arg111His) rs878854279
NM_001242896.3(DEPDC5):c.3331-11A>G
NM_001242896.3(DEPDC5):c.3340G>C (p.Asp1114His) rs1029839829
NM_001242896.3(DEPDC5):c.3347C>A (p.Thr1116Lys)
NM_001242896.3(DEPDC5):c.3353C>T (p.Thr1118Ile)
NM_001242896.3(DEPDC5):c.3355C>T (p.Pro1119Ser)
NM_001242896.3(DEPDC5):c.3366C>A (p.Asp1122Glu)
NM_001242896.3(DEPDC5):c.3380G>T (p.Gly1127Val) rs941078167
NM_001242896.3(DEPDC5):c.3392G>A (p.Gly1131Asp)
NM_001242896.3(DEPDC5):c.3400A>G (p.Met1134Val)
NM_001242896.3(DEPDC5):c.3401T>C (p.Met1134Thr)
NM_001242896.3(DEPDC5):c.3403G>A (p.Asp1135Asn) rs896871427
NM_001242896.3(DEPDC5):c.3412A>C (p.Asn1138His)
NM_001242896.3(DEPDC5):c.3416G>C (p.Ser1139Thr) rs2092816043
NM_001242896.3(DEPDC5):c.3422C>T (p.Thr1141Ile) rs926750227
NM_001242896.3(DEPDC5):c.3425T>C (p.Phe1142Ser) rs2092816186
NM_001242896.3(DEPDC5):c.3427G>A (p.Gly1143Arg) rs1479727000
NM_001242896.3(DEPDC5):c.3436C>G (p.Gln1146Glu)
NM_001242896.3(DEPDC5):c.3437A>G (p.Gln1146Arg) rs1555913525
NM_001242896.3(DEPDC5):c.3439A>C (p.Asn1147His) rs2092816522
NM_001242896.3(DEPDC5):c.3444A>G (p.Ile1148Met)
NM_001242896.3(DEPDC5):c.3455G>T (p.Gly1152Val) rs2149231484
NM_001242896.3(DEPDC5):c.3455_3457dup (p.Gly1152_Tyr1153insCys) rs2092816876
NM_001242896.3(DEPDC5):c.3457T>C (p.Tyr1153His)
NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val) rs1419496771
NM_001242896.3(DEPDC5):c.347G>T (p.Arg116Leu) rs777623410
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly) rs886039280
NM_001242896.3(DEPDC5):c.3486-12C>T
NM_001242896.3(DEPDC5):c.3493C>A (p.Gln1165Lys)
NM_001242896.3(DEPDC5):c.3509C>T (p.Ser1170Phe)
NM_001242896.3(DEPDC5):c.3550A>T (p.Met1184Leu)
NM_001242896.3(DEPDC5):c.3571G>A (p.Val1191Ile)
NM_001242896.3(DEPDC5):c.3571G>C (p.Val1191Leu) rs777200870
NM_001242896.3(DEPDC5):c.3578T>A (p.Leu1193Gln) rs2092931592
NM_001242896.3(DEPDC5):c.358A>T (p.Ser120Cys)
NM_001242896.3(DEPDC5):c.3590A>G (p.Gln1197Arg)
NM_001242896.3(DEPDC5):c.3596G>A (p.Gly1199Asp)
NM_001242896.3(DEPDC5):c.3613T>C (p.Phe1205Leu)
NM_001242896.3(DEPDC5):c.3614T>G (p.Phe1205Cys) rs2149256525
NM_001242896.3(DEPDC5):c.361T>G (p.Leu121Val) rs2148128852
NM_001242896.3(DEPDC5):c.3620G>C (p.Ser1207Thr) rs2092932829
NM_001242896.3(DEPDC5):c.363+6A>G rs933571182
NM_001242896.3(DEPDC5):c.3635A>G (p.His1212Arg)
NM_001242896.3(DEPDC5):c.3636C>G (p.His1212Gln) rs2092933328
NM_001242896.3(DEPDC5):c.363G>T (p.Leu121Phe) rs2082845017
NM_001242896.3(DEPDC5):c.3640T>G (p.Leu1214Val)
NM_001242896.3(DEPDC5):c.3663C>G (p.Ile1221Met)
NM_001242896.3(DEPDC5):c.3674C>T (p.Ala1225Val)
NM_001242896.3(DEPDC5):c.3679G>T (p.Ala1227Ser) rs2149256987
NM_001242896.3(DEPDC5):c.3682A>C (p.Ile1228Leu)
NM_001242896.3(DEPDC5):c.3693G>A (p.Met1231Ile) rs2092934953
NM_001242896.3(DEPDC5):c.3696+2dup
NM_001242896.3(DEPDC5):c.3697-13A>G
NM_001242896.3(DEPDC5):c.3703C>G (p.Leu1235Val) rs766933880
NM_001242896.3(DEPDC5):c.3709G>A (p.Glu1237Lys) rs2092986144
NM_001242896.3(DEPDC5):c.3725A>G (p.His1242Arg) rs750097398
NM_001242896.3(DEPDC5):c.3730T>C (p.Ser1244Pro)
NM_001242896.3(DEPDC5):c.3731C>G (p.Ser1244Cys) rs755768537
NM_001242896.3(DEPDC5):c.3745C>T (p.Arg1249Trp)
NM_001242896.3(DEPDC5):c.3758A>G (p.Tyr1253Cys) rs2092987722
NM_001242896.3(DEPDC5):c.3760G>A (p.Gly1254Ser)
NM_001242896.3(DEPDC5):c.376G>A (p.Ala126Thr) rs1008310202
NM_001242896.3(DEPDC5):c.3776A>G (p.Lys1259Arg)
NM_001242896.3(DEPDC5):c.3799G>A (p.Asp1267Asn) rs1340279120
NM_001242896.3(DEPDC5):c.3799G>T (p.Asp1267Tyr) rs1340279120
NM_001242896.3(DEPDC5):c.3809C>T (p.Ala1270Val)
NM_001242896.3(DEPDC5):c.3821C>T (p.Pro1274Leu)
NM_001242896.3(DEPDC5):c.3823G>C (p.Ala1275Pro) rs1453526282
NM_001242896.3(DEPDC5):c.3833G>T (p.Trp1278Leu) rs1569185783
NM_001242896.3(DEPDC5):c.3839C>T (p.Thr1280Ile)
NM_001242896.3(DEPDC5):c.3852C>A (p.Asp1284Glu) rs773340826
NM_001242896.3(DEPDC5):c.3859G>T (p.Ala1287Ser) rs867268278
NM_001242896.3(DEPDC5):c.3876G>C (p.Lys1292Asn) rs1602677998
NM_001242896.3(DEPDC5):c.3884_3889del (p.Glu1295_Val1296del) rs2149294996
NM_001242896.3(DEPDC5):c.3886G>T (p.Val1296Leu) rs1569186162
NM_001242896.3(DEPDC5):c.3889G>T (p.Ala1297Ser)
NM_001242896.3(DEPDC5):c.3898G>A (p.Ala1300Thr) rs1395522861
NM_001242896.3(DEPDC5):c.3901G>C (p.Glu1301Gln) rs762142759
NM_001242896.3(DEPDC5):c.3907C>G (p.Leu1303Val)
NM_001242896.3(DEPDC5):c.3910G>T (p.Val1304Leu) rs750936617
NM_001242896.3(DEPDC5):c.3925C>T (p.Pro1309Ser)
NM_001242896.3(DEPDC5):c.3934C>T (p.Leu1312Phe) rs2093121640
NM_001242896.3(DEPDC5):c.3940C>T (p.Pro1314Ser) rs2093121770
NM_001242896.3(DEPDC5):c.3952A>C (p.Ser1318Arg) rs1602678715
NM_001242896.3(DEPDC5):c.397G>C (p.Glu133Gln) rs1341691013
NM_001242896.3(DEPDC5):c.3989T>A (p.Phe1330Tyr) rs2093123100
NM_001242896.3(DEPDC5):c.4008A>G (p.Gly1336=)
NM_001242896.3(DEPDC5):c.4009C>T (p.Arg1337Trp)
NM_001242896.3(DEPDC5):c.4013G>A (p.Ser1338Asn)
NM_001242896.3(DEPDC5):c.4034-4A>G rs2093485743
NM_001242896.3(DEPDC5):c.4042G>A (p.Val1348Ile) rs1380088913
NM_001242896.3(DEPDC5):c.4049A>T (p.Glu1350Val)
NM_001242896.3(DEPDC5):c.4058C>T (p.Thr1353Ile) rs1163140081
NM_001242896.3(DEPDC5):c.4076A>T (p.Asp1359Val)
NM_001242896.3(DEPDC5):c.4078G>A (p.Val1360Met)
NM_001242896.3(DEPDC5):c.4088G>A (p.Arg1363His)
NM_001242896.3(DEPDC5):c.4091C>T (p.Thr1364Ile)
NM_001242896.3(DEPDC5):c.4093G>A (p.Asp1365Asn) rs1191285429
NM_001242896.3(DEPDC5):c.4093G>T (p.Asp1365Tyr) rs1191285429
NM_001242896.3(DEPDC5):c.4108T>A (p.Cys1370Ser) rs771269120
NM_001242896.3(DEPDC5):c.411C>T (p.Ile137=)
NM_001242896.3(DEPDC5):c.4126G>A (p.Gly1376Ser) rs1555929990
NM_001242896.3(DEPDC5):c.413+5A>G
NM_001242896.3(DEPDC5):c.413+6T>C rs748450091
NM_001242896.3(DEPDC5):c.4131C>G (p.Asn1377Lys)
NM_001242896.3(DEPDC5):c.4136C>A (p.Ser1379Tyr) rs765244692
NM_001242896.3(DEPDC5):c.414-11_414-4del
NM_001242896.3(DEPDC5):c.414-3C>G
NM_001242896.3(DEPDC5):c.4144G>A (p.Ala1382Thr) rs2093488105
NM_001242896.3(DEPDC5):c.414A>G (p.Arg138=) rs200421648
NM_001242896.3(DEPDC5):c.4154A>C (p.Glu1385Ala) rs2149378618
NM_001242896.3(DEPDC5):c.4156A>C (p.Ile1386Leu) rs1555930038
NM_001242896.3(DEPDC5):c.4163T>C (p.Leu1388Pro) rs1446980540
NM_001242896.3(DEPDC5):c.4183G>T (p.Ala1395Ser)
NM_001242896.3(DEPDC5):c.4204-3C>G rs2149397030
NM_001242896.3(DEPDC5):c.4210G>C (p.Gly1404Arg)
NM_001242896.3(DEPDC5):c.4228_4245del (p.Thr1410_Leu1415del)
NM_001242896.3(DEPDC5):c.422C>T (p.Ala141Val)
NM_001242896.3(DEPDC5):c.4235G>C (p.Cys1412Ser)
NM_001242896.3(DEPDC5):c.424G>A (p.Gly142Ser)
NM_001242896.3(DEPDC5):c.4252C>G (p.Pro1418Ala)
NM_001242896.3(DEPDC5):c.425_427dup (p.Gly142dup) rs761114750
NM_001242896.3(DEPDC5):c.4264G>A (p.Gly1422Arg) rs2093575232
NM_001242896.3(DEPDC5):c.4270T>G (p.Phe1424Val)
NM_001242896.3(DEPDC5):c.4282A>G (p.Ser1428Gly)
NM_001242896.3(DEPDC5):c.4297G>A (p.Asp1433Asn) rs766385762
NM_001242896.3(DEPDC5):c.4306C>A (p.Arg1436Ser)
NM_001242896.3(DEPDC5):c.431T>C (p.Leu144Pro)
NM_001242896.3(DEPDC5):c.4320C>T (p.Phe1440=)
NM_001242896.3(DEPDC5):c.4323C>G (p.Ile1441Met) rs2149397656
NM_001242896.3(DEPDC5):c.4333A>G (p.Ile1445Val)
NM_001242896.3(DEPDC5):c.4338C>G (p.Ser1446Arg)
NM_001242896.3(DEPDC5):c.4355G>A (p.Gly1452Asp)
NM_001242896.3(DEPDC5):c.4360G>A (p.Glu1454Lys) rs962190440
NM_001242896.3(DEPDC5):c.4364A>C (p.His1455Pro)
NM_001242896.3(DEPDC5):c.4367T>C (p.Leu1456Pro) rs1362296192
NM_001242896.3(DEPDC5):c.4370T>G (p.Phe1457Cys) rs2093577056
NM_001242896.3(DEPDC5):c.4376G>A (p.Ser1459Asn) rs1245607244
NM_001242896.3(DEPDC5):c.4403G>A (p.Arg1468Gln) rs780509997
NM_001242896.3(DEPDC5):c.4405A>G (p.Met1469Val) rs2093652593
NM_001242896.3(DEPDC5):c.4408C>T (p.His1470Tyr) rs1064795311
NM_001242896.3(DEPDC5):c.4410C>A (p.His1470Gln) rs372176746
NM_001242896.3(DEPDC5):c.4411C>T (p.Leu1471Phe) rs2149419770
NM_001242896.3(DEPDC5):c.4427T>C (p.Ile1476Thr) rs2093653111
NM_001242896.3(DEPDC5):c.4445T>C (p.Phe1482Ser) rs2149447579
NM_001242896.3(DEPDC5):c.4446T>G (p.Phe1482Leu)
NM_001242896.3(DEPDC5):c.445G>A (p.Glu149Lys) rs2084067532
NM_001242896.3(DEPDC5):c.4484C>G (p.Pro1495Arg) rs2093751685
NM_001242896.3(DEPDC5):c.4507A>G (p.Ile1503Val)
NM_001242896.3(DEPDC5):c.4520-2A>G rs1555942859
NM_001242896.3(DEPDC5):c.4520-37_4520-14del
NM_001242896.3(DEPDC5):c.4532T>G (p.Leu1511Arg)
NM_001242896.3(DEPDC5):c.4541C>T (p.Pro1514Leu) rs1294976211
NM_001242896.3(DEPDC5):c.454A>T (p.Met152Leu)
NM_001242896.3(DEPDC5):c.4553G>T (p.Arg1518Leu)
NM_001242896.3(DEPDC5):c.4559T>A (p.Phe1520Tyr) rs2093756441
NM_001242896.3(DEPDC5):c.4563_4568del (p.Gly1522_Gln1523del)
NM_001242896.3(DEPDC5):c.4568A>C (p.Gln1523Pro) rs2093756716
NM_001242896.3(DEPDC5):c.4568AGC[1] (p.Gln1524del) rs1296781205
NM_001242896.3(DEPDC5):c.4573C>T (p.Arg1525Trp) rs1223453056
NM_001242896.3(DEPDC5):c.4573CGG[5] (p.Arg1528_Asn1529insArg)
NM_001242896.3(DEPDC5):c.4576C>T (p.Arg1526Trp)
NM_001242896.3(DEPDC5):c.4579C>T (p.Arg1527Trp) rs2093757123
NM_001242896.3(DEPDC5):c.4586A>G (p.Asn1529Ser) rs773450879
NM_001242896.3(DEPDC5):c.458G>A (p.Cys153Tyr) rs2148328919
NM_001242896.3(DEPDC5):c.4592C>A (p.Thr1531Asn) rs1064794532
NM_001242896.3(DEPDC5):c.4595G>A (p.Ser1532Asn)
NM_001242896.3(DEPDC5):c.4605C>G (p.Asn1535Lys)
NM_001242896.3(DEPDC5):c.4608G>T (p.Gln1536His)
NM_001242896.3(DEPDC5):c.4619G>A (p.Cys1540Tyr)
NM_001242896.3(DEPDC5):c.4621G>A (p.Glu1541Lys) rs2149449183
NM_001242896.3(DEPDC5):c.4627C>T (p.Arg1543Trp) rs780294726
NM_001242896.3(DEPDC5):c.4633G>A (p.Gly1545Ser) rs1229311796
NM_001242896.3(DEPDC5):c.4637A>G (p.Tyr1546Cys)
NM_001242896.3(DEPDC5):c.4640A>G (p.Asn1547Ser)
NM_001242896.3(DEPDC5):c.4649A>C (p.Tyr1550Ser)
NM_001242896.3(DEPDC5):c.4657A>G (p.Met1553Val)
NM_001242896.3(DEPDC5):c.4675C>T (p.Arg1559Cys)
NM_001242896.3(DEPDC5):c.4676G>A (p.Arg1559His)
NM_001242896.3(DEPDC5):c.4684G>A (p.Ala1562Thr) rs373645855
NM_001242896.3(DEPDC5):c.4684G>T (p.Ala1562Ser) rs373645855
NM_001242896.3(DEPDC5):c.4685C>T (p.Ala1562Val)
NM_001242896.3(DEPDC5):c.4692_4693delinsTTT (p.Asp1565fs) rs1569255986
NM_001242896.3(DEPDC5):c.4700A>G (p.Lys1567Arg)
NM_001242896.3(DEPDC5):c.4700del (p.Lys1567fs)
NM_001242896.3(DEPDC5):c.470G>A (p.Ser157Asn)
NM_001242896.3(DEPDC5):c.4715T>A (p.Leu1572Gln) rs1208729078
NM_001242896.3(DEPDC5):c.4729_4730delinsCT (p.Thr1577Leu) rs2149449846
NM_001242896.3(DEPDC5):c.4737C>A (p.Phe1579Leu)
NM_001242896.3(DEPDC5):c.4737del (p.Cys1580fs) rs2149449891
NM_001242896.3(DEPDC5):c.4738T>C (p.Cys1580Arg) rs2093760699
NM_001242896.3(DEPDC5):c.4739G>A (p.Cys1580Tyr) rs776213050
NM_001242896.3(DEPDC5):c.4739G>C (p.Cys1580Ser)
NM_001242896.3(DEPDC5):c.4747del (p.Arg1583fs)
NM_001242896.3(DEPDC5):c.4748_4788delinsC (p.Arg1583fs) rs2093761109
NM_001242896.3(DEPDC5):c.4749_4750insTT (p.Asp1584fs)
NM_001242896.3(DEPDC5):c.4762G>C (p.Val1588Leu) rs2149450028
NM_001242896.3(DEPDC5):c.4763T>C (p.Val1588Ala)
NM_001242896.3(DEPDC5):c.4766C>T (p.Thr1589Met)
NM_001242896.3(DEPDC5):c.476A>G (p.Asp159Gly) rs2148329131
NM_001242896.3(DEPDC5):c.4778G>T (p.Ser1593Ile) rs1603019516
NM_001242896.3(DEPDC5):c.4779T>A (p.Ser1593Arg) rs750919199
NM_001242896.3(DEPDC5):c.4793T>C (p.Met1598Thr) rs1555943470
NM_001242896.3(DEPDC5):c.4808C>G (p.Pro1603Arg)
NM_001242896.3(DEPDC5):c.529A>G (p.Met177Val) rs2148405162
NM_001242896.3(DEPDC5):c.533G>A (p.Ser178Asn)
NM_001242896.3(DEPDC5):c.534C>G (p.Ser178Arg)
NM_001242896.3(DEPDC5):c.534C>T (p.Ser178=)
NM_001242896.3(DEPDC5):c.542T>A (p.Met181Lys) rs1060501486
NM_001242896.3(DEPDC5):c.543G>A (p.Met181Ile) rs887378031
NM_001242896.3(DEPDC5):c.547G>A (p.Asp183Asn) rs368985382
NM_001242896.3(DEPDC5):c.562+6G>A
NM_001242896.3(DEPDC5):c.563-3C>G rs2084816247
NM_001242896.3(DEPDC5):c.566A>T (p.Asp189Val) rs2084816540
NM_001242896.3(DEPDC5):c.574T>C (p.Phe192Leu)
NM_001242896.3(DEPDC5):c.58+6T>C rs2075195526
NM_001242896.3(DEPDC5):c.59-3C>G rs1064795947
NM_001242896.3(DEPDC5):c.59-3C>T
NM_001242896.3(DEPDC5):c.599T>C (p.Leu200Pro) rs2148415428
NM_001242896.3(DEPDC5):c.602C>A (p.Ala201Asp) rs1569519698
NM_001242896.3(DEPDC5):c.610T>C (p.Phe204Leu) rs2084819937
NM_001242896.3(DEPDC5):c.613A>T (p.Thr205Ser)
NM_001242896.3(DEPDC5):c.624+5A>G
NM_001242896.3(DEPDC5):c.625-7T>G rs1276867202
NM_001242896.3(DEPDC5):c.664T>C (p.Ser222Pro) rs2148505001
NM_001242896.3(DEPDC5):c.674T>G (p.Phe225Cys)
NM_001242896.3(DEPDC5):c.675C>G (p.Phe225Leu)
NM_001242896.3(DEPDC5):c.680A>T (p.Asp227Val) rs2148505198
NM_001242896.3(DEPDC5):c.689C>T (p.Ser230Phe)
NM_001242896.3(DEPDC5):c.691G>T (p.Val231Phe)
NM_001242896.3(DEPDC5):c.692T>C (p.Val231Ala) rs2148505288
NM_001242896.3(DEPDC5):c.694+3_694+6del rs1351154360
NM_001242896.3(DEPDC5):c.694+5G>A rs1060501485
NM_001242896.3(DEPDC5):c.695-3C>G
NM_001242896.3(DEPDC5):c.695A>G (p.Asp232Gly)
NM_001242896.3(DEPDC5):c.709A>G (p.Ile237Val)
NM_001242896.3(DEPDC5):c.716G>A (p.Arg239Gln) rs371511498
NM_001242896.3(DEPDC5):c.716G>C (p.Arg239Pro)
NM_001242896.3(DEPDC5):c.718G>A (p.Ala240Thr) rs761256495
NM_001242896.3(DEPDC5):c.719C>T (p.Ala240Val) rs1335967704
NM_001242896.3(DEPDC5):c.728G>T (p.Arg243Leu) rs368129922
NM_001242896.3(DEPDC5):c.750C>G (p.Phe250Leu)
NM_001242896.3(DEPDC5):c.752A>G (p.Tyr251Cys) rs1064796158
NM_001242896.3(DEPDC5):c.757G>T (p.Asp253Tyr)
NM_001242896.3(DEPDC5):c.793G>A (p.Glu265Lys)
NM_001242896.3(DEPDC5):c.80C>T (p.Pro27Leu) rs1485949754
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242896.3(DEPDC5):c.829C>A (p.Leu277Ile)
NM_001242896.3(DEPDC5):c.829C>T (p.Leu277Phe) rs778656662
NM_001242896.3(DEPDC5):c.82A>G (p.Lys28Glu) rs2082124844
NM_001242896.3(DEPDC5):c.83A>G (p.Lys28Arg)
NM_001242896.3(DEPDC5):c.842A>G (p.Tyr281Cys)
NM_001242896.3(DEPDC5):c.847G>A (p.Val283Met) rs1569523754
NM_001242896.3(DEPDC5):c.847G>C (p.Val283Leu) rs1569523754
NM_001242896.3(DEPDC5):c.856C>G (p.Arg286Gly)
NM_001242896.3(DEPDC5):c.857G>A (p.Arg286Gln)
NM_001242896.3(DEPDC5):c.859C>G (p.Leu287Val)
NM_001242896.3(DEPDC5):c.869C>T (p.Ala290Val) rs2148575481
NM_001242896.3(DEPDC5):c.870A>G (p.Ala290=) rs2148575505
NM_001242896.3(DEPDC5):c.872-3C>T rs2086521058
NM_001242896.3(DEPDC5):c.880C>T (p.Pro294Ser) rs2086522074
NM_001242896.3(DEPDC5):c.881C>T (p.Pro294Leu)
NM_001242896.3(DEPDC5):c.884_886del (p.Gln295_Gly296delinsArg) rs2148587515
NM_001242896.3(DEPDC5):c.890A>G (p.Asp297Gly)
NM_001242896.3(DEPDC5):c.898A>G (p.Thr300Ala)
NM_001242896.3(DEPDC5):c.899C>T (p.Thr300Ile)
NM_001242896.3(DEPDC5):c.8CAA[1] (p.Thr4del) rs2075190242
NM_001242896.3(DEPDC5):c.907C>G (p.Gln303Glu) rs1601935420
NM_001242896.3(DEPDC5):c.908A>C (p.Gln303Pro) rs765384973
NM_001242896.3(DEPDC5):c.911G>A (p.Gly304Glu)
NM_001242896.3(DEPDC5):c.914A>G (p.Asn305Ser)
NM_001242896.3(DEPDC5):c.916T>G (p.Tyr306Asp)
NM_001242896.3(DEPDC5):c.917A>G (p.Tyr306Cys)
NM_001242896.3(DEPDC5):c.920T>G (p.Leu307Arg) rs752537116
NM_001242896.3(DEPDC5):c.930C>G (p.Ile310Met)
NM_001242896.3(DEPDC5):c.938C>T (p.Ser313Leu) rs2148587902
NM_001242896.3(DEPDC5):c.971G>A (p.Arg324His) rs2087011135
NM_001242896.3(DEPDC5):c.974A>C (p.Asn325Thr)
NM_001242896.3(DEPDC5):c.974A>G (p.Asn325Ser) rs2087011420
NM_001242896.3(DEPDC5):c.97A>G (p.Ile33Val) rs368035159
NM_001242896.3(DEPDC5):c.994A>G (p.Met332Val) rs763154977

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