ClinVar Miner

List of variants in gene DKC1 studied for hereditary epidermal appendage anomaly

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 443
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HGVS dbSNP gnomAD frequency
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_001363.5(DKC1):c.*6G>A rs1800533 0.14655
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) rs1127051 0.07549
NM_001363.5(DKC1):c.369= (p.Thr123=) rs2728532 0.00616
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104 0.00192
NM_001363.5(DKC1):c.771+13G>A rs201592812 0.00091
NM_001363.5(DKC1):c.1293G>A (p.Val431=) rs138065506 0.00060
NM_001363.5(DKC1):c.172-12G>A rs376783942 0.00055
NM_001363.5(DKC1):c.1317C>T (p.Ala439=) rs143207180 0.00035
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_001363.5(DKC1):c.915+8C>T rs200156434 0.00023
NM_001363.5(DKC1):c.1059G>A (p.Ala353=) rs375274293 0.00015
NM_001363.5(DKC1):c.1362A>G (p.Glu454=) rs782342369 0.00015
NM_001363.5(DKC1):c.1431G>A (p.Lys477=) rs3752356 0.00013
NM_001363.5(DKC1):c.399C>T (p.Ile133=) rs140714103 0.00013
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn) rs374771308 0.00013
NM_001363.5(DKC1):c.978C>T (p.Gly326=) rs145325102 0.00013
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg) rs376632263 0.00011
NM_001363.5(DKC1):c.600C>T (p.Tyr200=) rs781789313 0.00010
NM_001363.5(DKC1):c.85-4G>A rs782787521 0.00008
NM_001363.5(DKC1):c.1155+20G>A rs782743841 0.00007
NM_001363.5(DKC1):c.494G>C (p.Gly165Ala) rs782622660 0.00007
NM_001363.5(DKC1):c.582C>G (p.Leu194=) rs782546233 0.00007
NM_001363.5(DKC1):c.1036+8G>A rs782446632 0.00006
NM_001363.5(DKC1):c.1167G>A (p.Lys389=) rs369066088 0.00006
NM_001363.5(DKC1):c.97G>A (p.Ala33Thr) rs372511229 0.00006
NM_001363.5(DKC1):c.1074C>T (p.Cys358=) rs781915787 0.00005
NM_001363.5(DKC1):c.1155+8G>A rs781880461 0.00005
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr) rs782343800 0.00005
NM_001363.5(DKC1):c.267A>C (p.Thr89=) rs782604353 0.00005
NM_001363.5(DKC1):c.847C>A (p.Arg283=) rs782084631 0.00005
NM_001363.5(DKC1):c.1339-5C>T rs781901933 0.00004
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val) rs782631659 0.00004
NM_001363.5(DKC1):c.263+17G>A rs371006539 0.00004
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr) rs374799227 0.00004
NM_001363.5(DKC1):c.55C>T (p.Arg19Trp) rs782010351 0.00004
NM_001363.5(DKC1):c.84C>T (p.Ala28=) rs142474971 0.00004
NM_001363.5(DKC1):c.1305G>A (p.Pro435=) rs189466923 0.00003
NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn) rs782598355 0.00003
NM_001363.5(DKC1):c.1503G>A (p.Lys501=) rs782072048 0.00003
NM_001363.5(DKC1):c.172-13C>T rs782236324 0.00003
NM_001363.5(DKC1):c.357G>A (p.Gly119=) rs1161452912 0.00003
NM_001363.5(DKC1):c.487A>G (p.Ile163Val) rs782159247 0.00003
NM_001363.5(DKC1):c.85-5C>T rs782381308 0.00003
NM_001363.5(DKC1):c.93A>G (p.Gln31=) rs782094431 0.00003
NM_001363.5(DKC1):c.993G>A (p.Gln331=) rs1407582382 0.00003
NM_001363.5(DKC1):c.1206G>A (p.Gly402=) rs199803984 0.00002
NM_001363.5(DKC1):c.1335G>A (p.Ala445=) rs782765291 0.00002
NM_001363.5(DKC1):c.1338+13C>T rs781802524 0.00002
NM_001363.5(DKC1):c.1350G>C (p.Glu450Asp) rs1557265675 0.00002
NM_001363.5(DKC1):c.1451A>C (p.Glu484Ala) rs781923825 0.00002
NM_001363.5(DKC1):c.1476+20G>A rs782675825 0.00002
NM_001363.5(DKC1):c.64T>G (p.Leu22Val) rs781849751 0.00002
NM_001363.5(DKC1):c.975C>T (p.Asp325=) rs374103494 0.00002
NM_001363.5(DKC1):c.1006A>G (p.Ile336Val) rs781943265 0.00001
NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn) rs199422249 0.00001
NM_001363.5(DKC1):c.1155+19C>G rs782728035 0.00001
NM_001363.5(DKC1):c.1156-7C>T rs1397887971 0.00001
NM_001363.5(DKC1):c.1210C>G (p.Pro404Ala) rs1347625639 0.00001
NM_001363.5(DKC1):c.1281G>A (p.Val427=) rs781964348 0.00001
NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys) rs782193188 0.00001
NM_001363.5(DKC1):c.1334C>T (p.Ala445Val) rs782117503 0.00001
NM_001363.5(DKC1):c.1353T>A (p.Ser451Arg) rs370788135 0.00001
NM_001363.5(DKC1):c.138G>A (p.Lys46=) rs369777662 0.00001
NM_001363.5(DKC1):c.1455C>T (p.Ser485=) rs782136109 0.00001
NM_001363.5(DKC1):c.1457G>A (p.Gly486Glu) rs1557265697 0.00001
NM_001363.5(DKC1):c.1476+13A>G rs781810616 0.00001
NM_001363.5(DKC1):c.1481G>A (p.Ser494Asn) rs1557265768 0.00001
NM_001363.5(DKC1):c.1500G>A (p.Lys500=) rs782551669 0.00001
NM_001363.5(DKC1):c.1509G>A (p.Lys503=) rs782703327 0.00001
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn) rs1370393255 0.00001
NM_001363.5(DKC1):c.1533G>C (p.Leu511Phe) rs782491403 0.00001
NM_001363.5(DKC1):c.259A>G (p.Ile87Val) rs782202263 0.00001
NM_001363.5(DKC1):c.262A>C (p.Arg88=) rs782317228 0.00001
NM_001363.5(DKC1):c.263+16A>G rs782490890 0.00001
NM_001363.5(DKC1):c.264-8C>A rs1557264149 0.00001
NM_001363.5(DKC1):c.36A>G (p.Lys12=) rs781936419 0.00001
NM_001363.5(DKC1):c.39T>C (p.His13=) rs782044075 0.00001
NM_001363.5(DKC1):c.449-10C>G rs1167594740 0.00001
NM_001363.5(DKC1):c.468T>A (p.Ile156=) rs782504051 0.00001
NM_001363.5(DKC1):c.519A>G (p.Leu173=) rs1466942555 0.00001
NM_001363.5(DKC1):c.537C>G (p.Ala179=) rs782697778 0.00001
NM_001363.5(DKC1):c.538T>C (p.Leu180=) rs1557264297 0.00001
NM_001363.5(DKC1):c.640+3G>A rs1557264306 0.00001
NM_001363.5(DKC1):c.912T>C (p.Ser304=) rs782525899 0.00001
NM_001363.5(DKC1):c.915+9C>T rs1557264657 0.00001
NM_001363.5(DKC1):c.916-6C>G rs782345716 0.00001
NM_001363.5(DKC1):c.96C>T (p.His32=) rs1557264045 0.00001
NM_001363.5(DKC1):c.976G>A (p.Gly326Ser) rs140273992 0.00001
NC_000023.10:g.(?_153991099)_(154005162_?)dup
NC_000023.10:g.(?_153991100)_(153993815_?)dup
NC_000023.10:g.(?_153991100)_(154005142_?)dup
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
NM_001363.5(DKC1):c.1020A>G (p.Gly340=)
NM_001363.5(DKC1):c.1027A>G (p.Ile343Val) rs958540765
NM_001363.5(DKC1):c.1036+10G>C
NM_001363.5(DKC1):c.1036+10G>T
NM_001363.5(DKC1):c.1036+13G>A
NM_001363.5(DKC1):c.1036+19T>G
NM_001363.5(DKC1):c.1036+6_1036+7del rs1557264868
NM_001363.5(DKC1):c.1036+7G>A
NM_001363.5(DKC1):c.1037-13T>A
NM_001363.5(DKC1):c.1037-19C>T
NM_001363.5(DKC1):c.1037-20T>C
NM_001363.5(DKC1):c.1037-8G>A
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val) rs1248744087
NM_001363.5(DKC1):c.1046T>C (p.Leu349Ser)
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr) rs121912300
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile) rs121912298
NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala) rs1114167422
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.1059G>C (p.Ala353=)
NM_001363.5(DKC1):c.1065C>A (p.Ile355=)
NM_001363.5(DKC1):c.1066T>C (p.Ser356Pro)
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala) rs137854492
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.5(DKC1):c.1091C>G (p.Ala364Gly) rs2148515101
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.1114G>C (p.Glu372Gln) rs2148515114
NM_001363.5(DKC1):c.1120G>A (p.Asp374Asn)
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) rs1057520719
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.113T>G (p.Ile38Ser)
NM_001363.5(DKC1):c.1141G>A (p.Gly381Ser)
NM_001363.5(DKC1):c.1143T>G (p.Gly381=)
NM_001363.5(DKC1):c.114C>G (p.Ile38Met)
NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser) rs199422250
NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu) rs199422251
NM_001363.5(DKC1):c.1155+15G>A
NM_001363.5(DKC1):c.1155+15del
NM_001363.5(DKC1):c.1155+19C>T
NM_001363.5(DKC1):c.1156-10G>A
NM_001363.5(DKC1):c.1156-13G>A
NM_001363.5(DKC1):c.1156-14del rs782420759
NM_001363.5(DKC1):c.1156-16C>G
NM_001363.5(DKC1):c.1156-17C>T
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) rs199422252
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu) rs121912296
NM_001363.5(DKC1):c.1164G>A (p.Gln388=)
NM_001363.5(DKC1):c.1165A>C (p.Lys389Gln)
NM_001363.5(DKC1):c.1171C>A (p.Leu391Met) rs2148516382
NM_001363.5(DKC1):c.1171C>T (p.Leu391=)
NM_001363.5(DKC1):c.1179C>A (p.Ile393=) rs2148516390
NM_001363.5(DKC1):c.1188C>T (p.Gly396=)
NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro) rs199422253
NM_001363.5(DKC1):c.1194G>A (p.Leu398=)
NM_001363.5(DKC1):c.1195G>C (p.Asp399His) rs2071871731
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg) rs121912299
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.1214C>T (p.Thr405Ile)
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) rs121912302
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1225C>T (p.Pro409Ser) rs2148516431
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) rs121912289
NM_001363.5(DKC1):c.1232C>T (p.Thr411Ile)
NM_001363.5(DKC1):c.1233C>T (p.Thr411=)
NM_001363.5(DKC1):c.1240C>G (p.Gln414Glu)
NM_001363.5(DKC1):c.1245G>A (p.Glu415=) rs2148516440
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn) rs1557265435
NM_001363.5(DKC1):c.1259+1G>A rs1569558616
NM_001363.5(DKC1):c.1259+7dup
NM_001363.5(DKC1):c.1259+8C>T
NM_001363.5(DKC1):c.1260-11C>T
NM_001363.5(DKC1):c.1260-12C>T
NM_001363.5(DKC1):c.1266T>G (p.Ser422=) rs2148516857
NM_001363.5(DKC1):c.1269C>T (p.Ala423=)
NM_001363.5(DKC1):c.126C>G (p.Ser42=) rs2148509477
NM_001363.5(DKC1):c.1275_1277del (p.Glu426del)
NM_001363.5(DKC1):c.1276G>C (p.Glu426Gln) rs2071881185
NM_001363.5(DKC1):c.127A>G (p.Lys43Glu) rs199422243
NM_001363.5(DKC1):c.1281_1310del (p.Val431_Glu440del)
NM_001363.5(DKC1):c.1284T>A (p.Val428=)
NM_001363.5(DKC1):c.1293_1295del (p.Val432del)
NM_001363.5(DKC1):c.1294G>T (p.Val432Leu)
NM_001363.5(DKC1):c.12G>A (p.Ala4=)
NM_001363.5(DKC1):c.1302C>T (p.Ala434=)
NM_001363.5(DKC1):c.1304C>T (p.Pro435Leu)
NM_001363.5(DKC1):c.1328A>C (p.Lys443Thr)
NM_001363.5(DKC1):c.1332T>C (p.Thr444=)
NM_001363.5(DKC1):c.1338+10A>T
NM_001363.5(DKC1):c.1338+14T>C
NM_001363.5(DKC1):c.1338+15G>C
NM_001363.5(DKC1):c.1338+18C>G
NM_001363.5(DKC1):c.1338+20C>T rs2148516959
NM_001363.5(DKC1):c.1338+3G>C
NM_001363.5(DKC1):c.1339-10T>G
NM_001363.5(DKC1):c.1339-13G>A
NM_001363.5(DKC1):c.1339-19C>T
NM_001363.5(DKC1):c.1339-20A>C
NM_001363.5(DKC1):c.1339-3C>T
NM_001363.5(DKC1):c.1339-8C>T
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr) rs2071733846
NM_001363.5(DKC1):c.1343A>G (p.Lys448Arg) rs2148517505
NM_001363.5(DKC1):c.1346G>C (p.Arg449Pro) rs1289430524
NM_001363.5(DKC1):c.1352G>A (p.Ser451Asn) rs2071893244
NM_001363.5(DKC1):c.1352G>C (p.Ser451Thr) rs2071893244
NM_001363.5(DKC1):c.1356G>A (p.Glu452=)
NM_001363.5(DKC1):c.1368C>T (p.Asp456=)
NM_001363.5(DKC1):c.1373C>G (p.Thr458Ser) rs2071893601
NM_001363.5(DKC1):c.1373C>T (p.Thr458Ile)
NM_001363.5(DKC1):c.1383A>G (p.Ala461=) rs1293654532
NM_001363.5(DKC1):c.1387C>A (p.Pro463Thr) rs782434084
NM_001363.5(DKC1):c.1396A>G (p.Ile466Val)
NM_001363.5(DKC1):c.1398C>G (p.Ile466Met)
NM_001363.5(DKC1):c.1404G>A (p.Lys468=)
NM_001363.5(DKC1):c.1409AGA[2] (p.Lys472del) rs781922569
NM_001363.5(DKC1):c.1416G>A (p.Lys472=) rs2148517591
NM_001363.5(DKC1):c.1429AAG[1] (p.Lys478del) rs2148517599
NM_001363.5(DKC1):c.142G>A (p.Asp48Asn)
NM_001363.5(DKC1):c.1445G>T (p.Gly482Val)
NM_001363.5(DKC1):c.1462G>A (p.Glu488Lys)
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.1473T>C (p.Asp491=)
NM_001363.5(DKC1):c.1476+11A>G rs2148517651
NM_001363.5(DKC1):c.1476+14C>T
NM_001363.5(DKC1):c.1477-10T>C
NM_001363.5(DKC1):c.1477-10_1477-9del
NM_001363.5(DKC1):c.1477-13T>G
NM_001363.5(DKC1):c.1477-14_1477-11del
NM_001363.5(DKC1):c.1477-1G>C rs2148517984
NM_001363.5(DKC1):c.1477-20T>C
NM_001363.5(DKC1):c.1477-28_1477-18del
NM_001363.5(DKC1):c.1477-8C>G
NM_001363.5(DKC1):c.1479C>T (p.Asp493=)
NM_001363.5(DKC1):c.147G>A (p.Thr49=)
NM_001363.5(DKC1):c.1482T>C (p.Ser494=) rs2148518000
NM_001363.5(DKC1):c.1494GAA[4] (p.Lys503_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[5] (p.Lys504_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.1494GAA[9] (p.Lys504_Lys505dup) rs782576893
NM_001363.5(DKC1):c.1496A>G (p.Lys499Arg)
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr) rs1569558474
NM_001363.5(DKC1):c.1508dup (p.Lys504fs)
NM_001363.5(DKC1):c.1512G>T (p.Lys504Asn) rs1557265783
NM_001363.5(DKC1):c.1524G>T (p.Glu508Asp) rs186518477
NM_001363.5(DKC1):c.1531T>C (p.Leu511=)
NM_001363.5(DKC1):c.159C>A (p.Pro53=)
NM_001363.5(DKC1):c.159C>T (p.Pro53=) rs2148509505
NM_001363.5(DKC1):c.16+10G>T
NM_001363.5(DKC1):c.16+11C>T
NM_001363.5(DKC1):c.16+18C>G
NM_001363.5(DKC1):c.16+24_16+39del rs2148507554
NM_001363.5(DKC1):c.16+592C>G rs1603429348
NM_001363.5(DKC1):c.16+7G>A
NM_001363.5(DKC1):c.16+8C>T
NM_001363.5(DKC1):c.166C>G (p.Leu56Val)
NM_001363.5(DKC1):c.166_167delinsTC (p.Leu56Ser) rs121912287
NM_001363.5(DKC1):c.17-10G>A rs2148509118
NM_001363.5(DKC1):c.17-14_17-13del rs782596086
NM_001363.5(DKC1):c.17-16G>A
NM_001363.5(DKC1):c.17-16G>T
NM_001363.5(DKC1):c.17-7T>A
NM_001363.5(DKC1):c.17-9T>A
NM_001363.5(DKC1):c.171+11A>G
NM_001363.5(DKC1):c.171+14del rs782433339
NM_001363.5(DKC1):c.171+16C>G
NM_001363.5(DKC1):c.171+16C>T
NM_001363.5(DKC1):c.171+17G>A
NM_001363.5(DKC1):c.171+8G>A rs2071734340
NM_001363.5(DKC1):c.172-12G>C
NM_001363.5(DKC1):c.172-18_172-14del
NM_001363.5(DKC1):c.176T>C (p.Phe59Ser)
NM_001363.5(DKC1):c.180T>C (p.Asp60=)
NM_001363.5(DKC1):c.189T>C (p.Asn63=)
NM_001363.5(DKC1):c.189T>G (p.Asn63Lys)
NM_001363.5(DKC1):c.191T>G (p.Val64Gly) rs2071739379
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr) rs121912301
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) rs121912297
NM_001363.5(DKC1):c.199A>G (p.Thr67Ala)
NM_001363.5(DKC1):c.200C>T (p.Thr67Ile) rs199422244
NM_001363.5(DKC1):c.203A>G (p.His68Arg) rs1557264102
NM_001363.5(DKC1):c.204C>A (p.His68Gln) rs199422245
NM_001363.5(DKC1):c.204C>G (p.His68Gln) rs199422245
NM_001363.5(DKC1):c.207T>C (p.Tyr69=)
NM_001363.5(DKC1):c.211C>T (p.Pro71Ser)
NM_001363.5(DKC1):c.214C>T (p.Leu72Phe) rs121912306
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) rs121912294
NM_001363.5(DKC1):c.219A>G (p.Ala73=)
NM_001363.5(DKC1):c.220T>C (p.Cys74Arg) rs2148509751
NM_001363.5(DKC1):c.243A>G (p.Arg81=)
NM_001363.5(DKC1):c.244G>C (p.Glu82Gln)
NM_001363.5(DKC1):c.252G>A (p.Gly84=)
NM_001363.5(DKC1):c.253G>A (p.Asp85Asn) rs2148509772
NM_001363.5(DKC1):c.257A>G (p.Tyr86Cys)
NM_001363.5(DKC1):c.263+11G>A
NM_001363.5(DKC1):c.263+13del rs1343619839
NM_001363.5(DKC1):c.263+20A>C
NM_001363.5(DKC1):c.263+6T>C rs2071741038
NM_001363.5(DKC1):c.263+7G>T
NM_001363.5(DKC1):c.264-10T>C
NM_001363.5(DKC1):c.264-14T>C
NM_001363.5(DKC1):c.264-9C>T rs1300109572
NM_001363.5(DKC1):c.277A>T (p.Asn93Tyr) rs2148509897
NM_001363.5(DKC1):c.288G>A (p.Lys96=)
NM_001363.5(DKC1):c.29C>T (p.Pro10Leu) rs199422242
NM_001363.5(DKC1):c.300C>G (p.Pro100=)
NM_001363.5(DKC1):c.30A>G (p.Pro10=)
NM_001363.5(DKC1):c.315G>A (p.Val105=) rs2148509927
NM_001363.5(DKC1):c.329G>A (p.Arg110Gln)
NM_001363.5(DKC1):c.332G>A (p.Arg111Gln) rs1036880108
NM_001363.5(DKC1):c.345G>A (p.Val115=)
NM_001363.5(DKC1):c.352A>C (p.Thr118Pro)
NM_001363.5(DKC1):c.354A>C (p.Thr118=)
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.417C>T (p.Ala139=)
NM_001363.5(DKC1):c.420T>C (p.Thr140=)
NM_001363.5(DKC1):c.421C>A (p.Arg141Ser)
NM_001363.5(DKC1):c.421C>T (p.Arg141Cys)
NM_001363.5(DKC1):c.423C>G (p.Arg141=)
NM_001363.5(DKC1):c.42G>A (p.Lys14=)
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del) rs782201995
NM_001363.5(DKC1):c.438A>G (p.Gln146=)
NM_001363.5(DKC1):c.442A>G (p.Ser148Gly)
NM_001363.5(DKC1):c.448+11G>A
NM_001363.5(DKC1):c.448+18G>A rs2148510020
NM_001363.5(DKC1):c.448+19G>A
NM_001363.5(DKC1):c.448+19G>C
NM_001363.5(DKC1):c.448+19G>T
NM_001363.5(DKC1):c.449-13T>C rs2148510453
NM_001363.5(DKC1):c.449-17C>T
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp) rs199422246
NM_001363.5(DKC1):c.475C>T (p.Leu159=)
NM_001363.5(DKC1):c.484G>A (p.Ala162Thr) rs2071754474
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu) rs782159247
NM_001363.5(DKC1):c.494G>T (p.Gly165Val) rs782622660
NM_001363.5(DKC1):c.498G>A (p.Gly166=)
NM_001363.5(DKC1):c.498G>C (p.Gly166=)
NM_001363.5(DKC1):c.50A>G (p.Lys17Arg)
NM_001363.5(DKC1):c.513+12A>G
NM_001363.5(DKC1):c.513+19G>A
NM_001363.5(DKC1):c.513+20G>A
NM_001363.5(DKC1):c.513+7_513+8del
NM_001363.5(DKC1):c.514-10T>G
NM_001363.5(DKC1):c.514-12G>A
NM_001363.5(DKC1):c.514-14G>T
NM_001363.5(DKC1):c.514-18_514-15del
NM_001363.5(DKC1):c.514-4T>G
NM_001363.5(DKC1):c.514-8G>T rs2148510635
NM_001363.5(DKC1):c.515C>T (p.Ala172Val)
NM_001363.5(DKC1):c.516C>T (p.Ala172=)
NM_001363.5(DKC1):c.522A>G (p.Glu174=) rs782471921
NM_001363.5(DKC1):c.52_54del (p.Glu18del) rs2071726998
NM_001363.5(DKC1):c.531A>G (p.Thr177=)
NM_001363.5(DKC1):c.540A>G (p.Leu180=) rs781897987
NM_001363.5(DKC1):c.546G>A (p.Gln182=)
NM_001363.5(DKC1):c.548G>A (p.Arg183Gln)
NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)
NM_001363.5(DKC1):c.568G>A (p.Val190Ile) rs2071758363
NM_001363.5(DKC1):c.576G>A (p.Arg192=)
NM_001363.5(DKC1):c.579G>A (p.Gln193=)
NM_001363.5(DKC1):c.580C>A (p.Leu194Ile)
NM_001363.5(DKC1):c.591G>A (p.Arg197=)
NM_001363.5(DKC1):c.59A>G (p.Lys20Arg)
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001363.5(DKC1):c.5_7del (p.Ala2del)
NM_001363.5(DKC1):c.601G>C (p.Glu201Gln)
NM_001363.5(DKC1):c.621C>T (p.Tyr207=)
NM_001363.5(DKC1):c.629A>G (p.Glu210Gly) rs2071759206
NM_001363.5(DKC1):c.62C>T (p.Ser21Leu)
NM_001363.5(DKC1):c.640+8A>C
NM_001363.5(DKC1):c.641-18TG[4]
NM_001363.5(DKC1):c.641-19_641-18del
NM_001363.5(DKC1):c.641-9G>T
NM_001363.5(DKC1):c.666T>A (p.Ala222=)
NM_001363.5(DKC1):c.669C>T (p.Gly223=)
NM_001363.5(DKC1):c.67C>A (p.Pro23Thr)
NM_001363.5(DKC1):c.684A>G (p.Thr228=)
NM_001363.5(DKC1):c.690T>C (p.Cys230=)
NM_001363.5(DKC1):c.691G>A (p.Val231Met)
NM_001363.5(DKC1):c.709T>C (p.Leu237=)
NM_001363.5(DKC1):c.70G>A (p.Glu24Lys) rs2148509194
NM_001363.5(DKC1):c.739C>A (p.Arg247=)
NM_001363.5(DKC1):c.749G>A (p.Arg250His)
NM_001363.5(DKC1):c.753T>A (p.Ser251=)
NM_001363.5(DKC1):c.75A>G (p.Glu25=) rs2148509198
NM_001363.5(DKC1):c.75A>T (p.Glu25Asp)
NM_001363.5(DKC1):c.763A>G (p.Ser255Gly)
NM_001363.5(DKC1):c.771+11C>T
NM_001363.5(DKC1):c.771+11del
NM_001363.5(DKC1):c.771+12G>A
NM_001363.5(DKC1):c.771+12G>T
NM_001363.5(DKC1):c.771+15G>T
NM_001363.5(DKC1):c.771+16del
NM_001363.5(DKC1):c.771+19G>C rs2148511663
NM_001363.5(DKC1):c.772-10del
NM_001363.5(DKC1):c.772-15A>G
NM_001363.5(DKC1):c.772-9G>A
NM_001363.5(DKC1):c.772-9G>C
NM_001363.5(DKC1):c.778A>G (p.Met260Val)
NM_001363.5(DKC1):c.795T>C (p.Asp265=)
NM_001363.5(DKC1):c.816G>C (p.Leu272=)
NM_001363.5(DKC1):c.822T>C (p.Asp274=) rs1002559487
NM_001363.5(DKC1):c.828C>T (p.His276=) rs1603429504
NM_001363.5(DKC1):c.84+10A>T rs782718798
NM_001363.5(DKC1):c.84+13G>C
NM_001363.5(DKC1):c.84+15dup
NM_001363.5(DKC1):c.84+16T>A
NM_001363.5(DKC1):c.84+19G>T
NM_001363.5(DKC1):c.84+8del
NM_001363.5(DKC1):c.843C>T (p.Tyr281=)
NM_001363.5(DKC1):c.85-18A>G
NM_001363.5(DKC1):c.867G>A (p.Leu289=)
NM_001363.5(DKC1):c.877T>C (p.Leu293=) rs1603429508
NM_001363.5(DKC1):c.880A>G (p.Thr294Ala)
NM_001363.5(DKC1):c.882A>G (p.Thr294=)
NM_001363.5(DKC1):c.884C>T (p.Ser295Phe) rs2071791712
NM_001363.5(DKC1):c.88A>G (p.Ile30Val)
NM_001363.5(DKC1):c.894G>T (p.Arg298=)
NM_001363.5(DKC1):c.897G>A (p.Leu299=)
NM_001363.5(DKC1):c.901A>G (p.Met301Val)
NM_001363.5(DKC1):c.906A>G (p.Lys302=)
NM_001363.5(DKC1):c.90A>C (p.Ile30=)
NM_001363.5(DKC1):c.911G>A (p.Ser304Asn) rs199422247
NM_001363.5(DKC1):c.915+10G>A rs1603429509
NM_001363.5(DKC1):c.915+17G>A rs2148512556
NM_001363.5(DKC1):c.915+19G>A
NM_001363.5(DKC1):c.916-11C>T
NM_001363.5(DKC1):c.916-12C>G
NM_001363.5(DKC1):c.916-15dup rs1218146343
NM_001363.5(DKC1):c.916-5T>C rs2148513598
NM_001363.5(DKC1):c.916-6C>T rs782345716
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) rs137854491
NM_001363.5(DKC1):c.91C>G (p.Gln31Glu) rs137854491
NM_001363.5(DKC1):c.930C>T (p.Cys310=)
NM_001363.5(DKC1):c.936G>A (p.Gly312=)
NM_001363.5(DKC1):c.939C>T (p.Ala313=)
NM_001363.5(DKC1):c.941A>G (p.Lys314Arg) rs199422248
NM_001363.5(DKC1):c.948G>T (p.Met316Ile) rs2148513624
NM_001363.5(DKC1):c.949C>G (p.Leu317Val) rs121912290
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe) rs121912290
NM_001363.5(DKC1):c.961C>G (p.Leu321Val) rs2728726
NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) rs121912291
NM_001363.5(DKC1):c.969T>C (p.Tyr323=) rs2148513634
NM_001363.5(DKC1):c.979A>G (p.Ile327Val) rs2071814299
NM_001363.5(DKC1):c.984G>A (p.Glu328=)
NM_001363.5(DKC1):c.985G>A (p.Val329Ile) rs2071814456
NM_001363.5(DKC1):c.993G>T (p.Gln331His)
NM_001363.5(DKC1):c.999T>C (p.Ile333=)
NM_001363.5(DKC1):c.99T>C (p.Ala33=)

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