ClinVar Miner

List of variants studied for multiple epiphyseal dysplasia type 4 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 550
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832 0.99306
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01353
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00214
NM_000112.4(SLC26A2):c.468C>T (p.Thr156=) rs111788154 0.00110
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147 0.00075
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275 0.00073
NM_000112.4(SLC26A2):c.836G>A (p.Arg279Gln) rs114569184 0.00069
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_000112.4(SLC26A2):c.893A>G (p.His298Arg) rs115111282 0.00044
NM_000112.4(SLC26A2):c.1234G>A (p.Val412Ile) rs201714602 0.00043
NM_000112.4(SLC26A2):c.695A>T (p.Tyr232Phe) rs75097996 0.00032
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143 0.00026
NM_000112.4(SLC26A2):c.1295A>G (p.His432Arg) rs116443969 0.00026
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544 0.00022
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=) rs116657359 0.00022
NM_000112.4(SLC26A2):c.699+20T>C rs368382498 0.00022
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000112.4(SLC26A2):c.474T>C (p.Arg158=) rs374572095 0.00014
NM_000112.4(SLC26A2):c.807C>T (p.Ala269=) rs148445106 0.00014
NM_000112.4(SLC26A2):c.1776A>G (p.Lys592=) rs570536938 0.00013
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000112.4(SLC26A2):c.173G>A (p.Arg58His) rs199893058 0.00011
NM_000112.4(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254 0.00011
NM_000112.4(SLC26A2):c.1854G>A (p.Lys618=) rs370460064 0.00011
NM_000112.4(SLC26A2):c.196T>C (p.Phe66Leu) rs200981220 0.00010
NM_000112.4(SLC26A2):c.1487G>A (p.Arg496His) rs150314895 0.00009
NM_000112.4(SLC26A2):c.1633C>T (p.Arg545Cys) rs200897133 0.00009
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=) rs745590895 0.00009
NM_000112.4(SLC26A2):c.193A>G (p.Asn65Asp) rs755049614 0.00009
NM_000112.4(SLC26A2):c.2129A>G (p.Tyr710Cys) rs374692915 0.00009
NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val) rs777906405 0.00009
NM_000112.4(SLC26A2):c.897G>A (p.Lys299=) rs199635266 0.00009
NM_000112.4(SLC26A2):c.1059T>C (p.His353=) rs114841644 0.00006
NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro) rs141798540 0.00006
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=) rs886038240 0.00005
NM_000112.4(SLC26A2):c.2097T>C (p.Tyr699=) rs761932822 0.00005
NM_000112.4(SLC26A2):c.1170C>T (p.Ser390=) rs757884368 0.00004
NM_000112.4(SLC26A2):c.1192G>A (p.Val398Ile) rs374310335 0.00004
NM_000112.4(SLC26A2):c.1938G>A (p.Leu646=) rs767843785 0.00004
NM_000112.4(SLC26A2):c.566A>G (p.His189Arg) rs775447660 0.00004
NM_000112.4(SLC26A2):c.956A>G (p.Lys319Arg) rs536416205 0.00004
NM_000112.4(SLC26A2):c.1639C>T (p.Gln547Ter) rs775143472 0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) rs386833497 0.00003
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758 0.00003
NM_000112.4(SLC26A2):c.1735A>G (p.Lys579Glu) rs375785597 0.00003
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918 0.00003
NM_000112.4(SLC26A2):c.2147T>C (p.Met716Thr) rs760613033 0.00003
NM_000112.4(SLC26A2):c.2164T>C (p.Ser722Pro) rs565149029 0.00003
NM_000112.4(SLC26A2):c.24A>G (p.Gln8=) rs372345029 0.00003
NM_000112.4(SLC26A2):c.645T>C (p.Ser215=) rs1396953137 0.00003
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu) rs104893917 0.00003
NM_000112.4(SLC26A2):c.875A>G (p.His292Arg) rs761259326 0.00003
NM_000112.4(SLC26A2):c.993A>C (p.Ala331=) rs772104667 0.00003
NM_000112.4(SLC26A2):c.1355A>G (p.His452Arg) rs1255485754 0.00002
NM_000112.4(SLC26A2):c.15T>C (p.Ser5=) rs539335443 0.00002
NM_000112.4(SLC26A2):c.2037C>T (p.Ile679=) rs762132863 0.00002
NM_000112.4(SLC26A2):c.472C>T (p.Arg158Cys) rs762787339 0.00002
NM_000112.4(SLC26A2):c.535G>A (p.Glu179Lys) rs755031722 0.00002
NM_000112.4(SLC26A2):c.712T>G (p.Phe238Val) rs746734591 0.00002
NM_000112.4(SLC26A2):c.96A>G (p.Gln32=) rs371478671 0.00002
NM_000112.4(SLC26A2):c.1032A>G (p.Thr344=) rs1185306663 0.00001
NM_000112.4(SLC26A2):c.1057C>T (p.His353Tyr) rs758078719 0.00001
NM_000112.4(SLC26A2):c.1085G>T (p.Gly362Val) rs1215069127 0.00001
NM_000112.4(SLC26A2):c.1120C>T (p.Pro374Ser) rs763082940 0.00001
NM_000112.4(SLC26A2):c.114C>T (p.Asp38=) rs779527254 0.00001
NM_000112.4(SLC26A2):c.1178G>A (p.Gly393Asp) rs794727476 0.00001
NM_000112.4(SLC26A2):c.1224T>C (p.His408=) rs368695180 0.00001
NM_000112.4(SLC26A2):c.1320T>C (p.Leu440=) rs1384352348 0.00001
NM_000112.4(SLC26A2):c.132C>A (p.Thr44=) rs1202182617 0.00001
NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter) rs771098555 0.00001
NM_000112.4(SLC26A2):c.134A>G (p.Asn45Ser) rs773892702 0.00001
NM_000112.4(SLC26A2):c.1405C>T (p.Leu469=) rs1326501763 0.00001
NM_000112.4(SLC26A2):c.1427A>G (p.Tyr476Cys) rs145765282 0.00001
NM_000112.4(SLC26A2):c.1476G>C (p.Arg492=) rs758441320 0.00001
NM_000112.4(SLC26A2):c.1497G>A (p.Arg499=) rs1755090535 0.00001
NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys) rs121908078 0.00001
NM_000112.4(SLC26A2):c.1605T>C (p.Val535=) rs1364454145 0.00001
NM_000112.4(SLC26A2):c.1615A>G (p.Ile539Val) rs1448915287 0.00001
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=) rs200694484 0.00001
NM_000112.4(SLC26A2):c.1680T>C (p.Ser560=) rs921384755 0.00001
NM_000112.4(SLC26A2):c.1719G>A (p.Gln573=) rs1755095360 0.00001
NM_000112.4(SLC26A2):c.1745G>A (p.Arg582His) rs368864462 0.00001
NM_000112.4(SLC26A2):c.1779A>G (p.Glu593=) rs746558702 0.00001
NM_000112.4(SLC26A2):c.1786A>G (p.Lys596Glu) rs1387357203 0.00001
NM_000112.4(SLC26A2):c.1847C>T (p.Ala616Val) rs780207230 0.00001
NM_000112.4(SLC26A2):c.1950del (p.Ile651fs) rs774648833 0.00001
NM_000112.4(SLC26A2):c.1982del (p.Thr661fs) rs762137330 0.00001
NM_000112.4(SLC26A2):c.2012G>A (p.Arg671His) rs1038419867 0.00001
NM_000112.4(SLC26A2):c.204G>A (p.Glu68=) rs754399633 0.00001
NM_000112.4(SLC26A2):c.2094A>C (p.Glu698Asp) rs371461728 0.00001
NM_000112.4(SLC26A2):c.2145G>A (p.Ala715=) rs886060225 0.00001
NM_000112.4(SLC26A2):c.2184A>G (p.Val728=) rs758010725 0.00001
NM_000112.4(SLC26A2):c.2190T>A (p.Val730=) rs1256171696 0.00001
NM_000112.4(SLC26A2):c.21G>A (p.Glu7=) rs768964077 0.00001
NM_000112.4(SLC26A2):c.306C>T (p.Tyr102=) rs768809642 0.00001
NM_000112.4(SLC26A2):c.30C>T (p.Asn10=) rs532261155 0.00001
NM_000112.4(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504 0.00001
NM_000112.4(SLC26A2):c.439G>T (p.Ala147Ser) rs201012489 0.00001
NM_000112.4(SLC26A2):c.459C>G (p.Leu153=) rs1370822641 0.00001
NM_000112.4(SLC26A2):c.502C>T (p.Leu168=) rs745566850 0.00001
NM_000112.4(SLC26A2):c.525A>G (p.Thr175=) rs1755029554 0.00001
NM_000112.4(SLC26A2):c.533G>A (p.Arg178Gln) rs747117439 0.00001
NM_000112.4(SLC26A2):c.696T>C (p.Tyr232=) rs1039294894 0.00001
NM_000112.4(SLC26A2):c.699+3A>C rs778015831 0.00001
NM_000112.4(SLC26A2):c.700-15T>C rs1224222753 0.00001
NM_000112.4(SLC26A2):c.705G>A (p.Ala235=) rs112360373 0.00001
NM_000112.4(SLC26A2):c.756G>A (p.Leu252=) rs138717538 0.00001
NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser) rs1419613966 0.00001
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val) rs769319202 0.00001
NM_000112.4(SLC26A2):c.796dup (p.Thr266fs) rs767996373 0.00001
NM_000112.4(SLC26A2):c.81C>T (p.Ile27=) rs387907491 0.00001
NM_000112.4(SLC26A2):c.855A>C (p.Ser285=) rs769248385 0.00001
NM_000112.4(SLC26A2):c.858C>T (p.Leu286=) rs748677654 0.00001
NM_000112.4(SLC26A2):c.882C>T (p.Phe294=) rs368422840 0.00001
NM_000112.4(SLC26A2):c.903T>C (p.Asn301=) rs754890390 0.00001
NM_000112.4(SLC26A2):c.924C>T (p.Ser308=) rs767409327 0.00001
NM_000112.4(SLC26A2):c.940G>A (p.Val314Ile) rs777527899 0.00001
NM_000112.4(SLC26A2):c.996G>A (p.Pro332=) rs376300575 0.00001
NC_000005.9:g.(?_149357216)_(149361376_?)del
NM_000112.4(SLC26A2):c.100del (p.Glu34fs) rs2113695568
NM_000112.4(SLC26A2):c.1011T>G (p.Leu337=)
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1017T>C (p.Val339=) rs755813228
NM_000112.4(SLC26A2):c.1020T>C (p.Val340=)
NM_000112.4(SLC26A2):c.1023A>G (p.Val341=) rs756825639
NM_000112.4(SLC26A2):c.1038C>T (p.Ala346=) rs1581231895
NM_000112.4(SLC26A2):c.1040C>T (p.Ser347Phe)
NM_000112.4(SLC26A2):c.104C>G (p.Ser35Ter)
NM_000112.4(SLC26A2):c.1052A>G (p.Lys351Arg)
NM_000112.4(SLC26A2):c.1053A>G (p.Lys351=)
NM_000112.4(SLC26A2):c.1054C>T (p.Leu352=)
NM_000112.4(SLC26A2):c.105A>G (p.Ser35=) rs765269781
NM_000112.4(SLC26A2):c.105A>T (p.Ser35=) rs765269781
NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter) rs1057517532
NM_000112.4(SLC26A2):c.1064_1065insAAAAA (p.Asn355fs) rs2113698201
NM_000112.4(SLC26A2):c.1086A>G (p.Gly362=)
NM_000112.4(SLC26A2):c.1091T>C (p.Ile364Thr) rs1360579129
NM_000112.4(SLC26A2):c.1098T>C (p.Thr366=) rs146912557
NM_000112.4(SLC26A2):c.1101G>A (p.Gly367=)
NM_000112.4(SLC26A2):c.1112C>T (p.Pro371Leu)
NM_000112.4(SLC26A2):c.1114A>G (p.Lys372Glu) rs1755081510
NM_000112.4(SLC26A2):c.1115A>G (p.Lys372Arg)
NM_000112.4(SLC26A2):c.1119A>T (p.Val373=) rs1561822062
NM_000112.4(SLC26A2):c.1125A>G (p.Glu375=) rs2113698285
NM_000112.4(SLC26A2):c.1131C>T (p.Asn377=) rs2113698293
NM_000112.4(SLC26A2):c.1135A>C (p.Ile379Leu)
NM_000112.4(SLC26A2):c.1147_1150del (p.Val382_Ala383insTer) rs1294262903
NM_000112.4(SLC26A2):c.1154A>C (p.Asp385Ala) rs2113698323
NM_000112.4(SLC26A2):c.1155del (p.Asp385fs) rs2113698329
NM_000112.4(SLC26A2):c.1157C>G (p.Ala386Gly) rs386833493
NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val) rs386833493
NM_000112.4(SLC26A2):c.1158A>G (p.Ala386=) rs2113698338
NM_000112.4(SLC26A2):c.1169C>T (p.Ser390Phe)
NM_000112.4(SLC26A2):c.117C>G (p.Phe39Leu)
NM_000112.4(SLC26A2):c.117C>T (p.Phe39=) rs376023150
NM_000112.4(SLC26A2):c.1188C>T (p.Ile396=) rs1755082955
NM_000112.4(SLC26A2):c.118A>T (p.Lys40Ter)
NM_000112.4(SLC26A2):c.1197A>G (p.Ser399=)
NM_000112.4(SLC26A2):c.1203_1204insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATTTTCT (p.Glu402delinsPhePhePhePhePhePheXaaXaaXaaXaaThrGlyPheHisLeuValSerGlnAspGlyLeuAspLeuLeuThrSerTer) rs2113698410
NM_000112.4(SLC26A2):c.1227T>A (p.Gly409=) rs2113698437
NM_000112.4(SLC26A2):c.1229A>G (p.Tyr410Cys) rs1297067317
NM_000112.4(SLC26A2):c.1230C>T (p.Tyr410=)
NM_000112.4(SLC26A2):c.1245C>T (p.Asn415=) rs2113698482
NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter) rs2113698485
NM_000112.4(SLC26A2):c.1252A>G (p.Met418Val) rs374309119
NM_000112.4(SLC26A2):c.1257T>C (p.Tyr419=)
NM_000112.4(SLC26A2):c.1264G>A (p.Gly422Ser)
NM_000112.4(SLC26A2):c.1265G>C (p.Gly422Ala)
NM_000112.4(SLC26A2):c.1269T>C (p.Phe423=)
NM_000112.4(SLC26A2):c.1272dup (p.Asn425Ter) rs2113698511
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.4(SLC26A2):c.1277T>A (p.Ile426Asn) rs2113698521
NM_000112.4(SLC26A2):c.1277T>C (p.Ile426Thr) rs2113698521
NM_000112.4(SLC26A2):c.1284T>G (p.Pro428=)
NM_000112.4(SLC26A2):c.12A>G (p.Glu4=) rs2113695425
NM_000112.4(SLC26A2):c.1305T>C (p.Thr435=)
NM_000112.4(SLC26A2):c.1306del (p.Thr436fs) rs1290183098
NM_000112.4(SLC26A2):c.1312G>T (p.Ala438Ser)
NM_000112.4(SLC26A2):c.132C>G (p.Thr44=) rs1202182617
NM_000112.4(SLC26A2):c.1330T>C (p.Leu444=)
NM_000112.4(SLC26A2):c.1332G>A (p.Leu444=)
NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter)
NM_000112.4(SLC26A2):c.1341A>G (p.Glu447=)
NM_000112.4(SLC26A2):c.1343C>A (p.Ser448Ter)
NM_000112.4(SLC26A2):c.1353C>T (p.Cys451=)
NM_000112.4(SLC26A2):c.1362G>A (p.Gln454=) rs2113698636
NM_000112.4(SLC26A2):c.1365T>C (p.Leu455=)
NM_000112.4(SLC26A2):c.136_137insTT (p.Asp46fs)
NM_000112.4(SLC26A2):c.1374G>A (p.Val458=)
NM_000112.4(SLC26A2):c.1381G>T (p.Ala461Ser)
NM_000112.4(SLC26A2):c.1384C>T (p.Leu462=)
NM_000112.4(SLC26A2):c.1386G>C (p.Leu462=)
NM_000112.4(SLC26A2):c.1386G>T (p.Leu462=)
NM_000112.4(SLC26A2):c.138dup (p.Gln47fs) rs1755018682
NM_000112.4(SLC26A2):c.1393_1394del (p.Leu465fs) rs386833495
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.4(SLC26A2):c.1395G>A (p.Leu465=) rs1456276336
NM_000112.4(SLC26A2):c.1397dup (p.Leu466fs) rs1755088251
NM_000112.4(SLC26A2):c.1398G>A (p.Leu466=)
NM_000112.4(SLC26A2):c.1401C>T (p.Val467=)
NM_000112.4(SLC26A2):c.1405C>G (p.Leu469Val)
NM_000112.4(SLC26A2):c.1407A>G (p.Leu469=) rs2113698698
NM_000112.4(SLC26A2):c.1407A>T (p.Leu469=) rs2113698698
NM_000112.4(SLC26A2):c.1416T>A (p.Ala472=)
NM_000112.4(SLC26A2):c.141A>G (p.Gln47=) rs1194896006
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs) rs780990131
NM_000112.4(SLC26A2):c.1423T>C (p.Phe475Leu)
NM_000112.4(SLC26A2):c.1428T>G (p.Tyr476Ter)
NM_000112.4(SLC26A2):c.1432del (p.Leu478fs) rs1755089179
NM_000112.4(SLC26A2):c.1437A>G (p.Gln479=)
NM_000112.4(SLC26A2):c.1439A>G (p.Lys480Arg)
NM_000112.4(SLC26A2):c.1441del (p.Ser481fs) rs745774620
NM_000112.4(SLC26A2):c.1441dup (p.Ser481fs) rs745774620
NM_000112.4(SLC26A2):c.1446C>T (p.Val482=)
NM_000112.4(SLC26A2):c.1447C>T (p.Leu483Phe)
NM_000112.4(SLC26A2):c.144C>T (p.Cys48=)
NM_000112.4(SLC26A2):c.1452T>C (p.Gly484=)
NM_000112.4(SLC26A2):c.1458C>A (p.Ile486=)
NM_000112.4(SLC26A2):c.1463T>C (p.Ile488Thr) rs2113698778
NM_000112.4(SLC26A2):c.1473A>G (p.Leu491=)
NM_000112.4(SLC26A2):c.1481C>T (p.Ala494Val)
NM_000112.4(SLC26A2):c.1483dup (p.Leu495fs)
NM_000112.4(SLC26A2):c.1486C>T (p.Arg496Cys)
NM_000112.4(SLC26A2):c.1487_1488insGGCG (p.Lys497fs) rs2113698812
NM_000112.4(SLC26A2):c.1494T>C (p.Phe498=)
NM_000112.4(SLC26A2):c.149C>T (p.Pro50Leu) rs1755018969
NM_000112.4(SLC26A2):c.1506C>A (p.Pro502=)
NM_000112.4(SLC26A2):c.1506C>G (p.Pro502=)
NM_000112.4(SLC26A2):c.1509_1514del (p.Met504_Trp505del)
NM_000112.4(SLC26A2):c.1513T>C (p.Trp505Arg) rs2113698845
NM_000112.4(SLC26A2):c.1514G>A (p.Trp505Ter)
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs) rs1057517511
NM_000112.4(SLC26A2):c.1541T>C (p.Ile514Thr)
NM_000112.4(SLC26A2):c.1542C>T (p.Ile514=)
NM_000112.4(SLC26A2):c.1544G>A (p.Trp515Ter) rs2113698870
NM_000112.4(SLC26A2):c.1549G>C (p.Val517Leu)
NM_000112.4(SLC26A2):c.1551T>A (p.Val517=) rs368016373
NM_000112.4(SLC26A2):c.1551T>C (p.Val517=) rs368016373
NM_000112.4(SLC26A2):c.1554T>G (p.Thr518=)
NM_000112.4(SLC26A2):c.1558C>T (p.Leu520=)
NM_000112.4(SLC26A2):c.1564T>C (p.Ser522Pro)
NM_000112.4(SLC26A2):c.1569A>G (p.Ala523=)
NM_000112.4(SLC26A2):c.1575A>G (p.Leu525=)
NM_000112.4(SLC26A2):c.1592del (p.Leu531fs) rs2113698924
NM_000112.4(SLC26A2):c.159G>A (p.Arg53=) rs766615254
NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs) rs1459144096
NM_000112.4(SLC26A2):c.1616T>A (p.Ile539Lys)
NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs) rs1755093032
NM_000112.4(SLC26A2):c.1629C>T (p.Ile543=)
NM_000112.4(SLC26A2):c.162C>T (p.Ile54=)
NM_000112.4(SLC26A2):c.1630del (p.Leu544fs)
NM_000112.4(SLC26A2):c.1632C>A (p.Leu544=)
NM_000112.4(SLC26A2):c.1632C>G (p.Leu544=) rs1581232304
NM_000112.4(SLC26A2):c.1634G>A (p.Arg545His) rs745802790
NM_000112.4(SLC26A2):c.1641G>A (p.Gln547=)
NM_000112.4(SLC26A2):c.1644G>A (p.Lys548=) rs2113699019
NM_000112.4(SLC26A2):c.1649del (p.Lys550fs) rs1057517482
NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter) rs1755094376
NM_000112.4(SLC26A2):c.1655C>T (p.Ser552Leu) rs1755094376
NM_000112.4(SLC26A2):c.1656A>G (p.Ser552=)
NM_000112.4(SLC26A2):c.165T>C (p.Leu55=)
NM_000112.4(SLC26A2):c.1666T>A (p.Leu556Met) rs1755094647
NM_000112.4(SLC26A2):c.1670T>C (p.Val557Ala)
NM_000112.4(SLC26A2):c.1685T>C (p.Val562Ala)
NM_000112.4(SLC26A2):c.1698G>A (p.Val566=) rs953899172
NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter) rs766836061
NM_000112.4(SLC26A2):c.1714del (p.Leu572fs) rs2113699101
NM_000112.4(SLC26A2):c.171G>A (p.Glu57=) rs2113695676
NM_000112.4(SLC26A2):c.1720_1721insCTAAGCCAGGCATCAAGATTTTCCGCTTTGTAGCCCCTCTCTACTACAGA (p.Ile574fs)
NM_000112.4(SLC26A2):c.1720del (p.Ile574fs) rs2113699112
NM_000112.4(SLC26A2):c.1724A>G (p.Lys575Arg)
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.4(SLC26A2):c.1728A>G (p.Pro576=)
NM_000112.4(SLC26A2):c.1731C>A (p.Gly577=)
NM_000112.4(SLC26A2):c.1731C>T (p.Gly577=)
NM_000112.4(SLC26A2):c.1739T>C (p.Ile580Thr)
NM_000112.4(SLC26A2):c.1740T>C (p.Ile580=) rs2113699146
NM_000112.4(SLC26A2):c.1759C>T (p.Leu587Phe) rs2113699190
NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=) rs745590895
NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter) rs1554095364
NM_000112.4(SLC26A2):c.1767C>A (p.Tyr589Ter)
NM_000112.4(SLC26A2):c.1767C>T (p.Tyr589=) rs2113699208
NM_000112.4(SLC26A2):c.1772del (p.Asn591fs) rs2113699214
NM_000112.4(SLC26A2):c.1773C>T (p.Asn591=) rs2113699222
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) rs905644652
NM_000112.4(SLC26A2):c.177A>G (p.Gln59=) rs2113695687
NM_000112.4(SLC26A2):c.1782C>T (p.Cys594=)
NM_000112.4(SLC26A2):c.1785T>C (p.Phe595=)
NM_000112.4(SLC26A2):c.1788A>G (p.Lys596=) rs776206829
NM_000112.4(SLC26A2):c.1796T>A (p.Leu599Ter)
NM_000112.4(SLC26A2):c.1797A>G (p.Leu599=)
NM_000112.4(SLC26A2):c.1805_1808del (p.Gln602fs)
NM_000112.4(SLC26A2):c.1806A>G (p.Gln602=)
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs) rs1057517530
NM_000112.4(SLC26A2):c.1809T>C (p.Thr603=)
NM_000112.4(SLC26A2):c.1810_1811del (p.Val604fs) rs2113699284
NM_000112.4(SLC26A2):c.1816C>A (p.Pro606Thr) rs767618201
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs) rs1554095374
NM_000112.4(SLC26A2):c.1818A>C (p.Pro606=)
NM_000112.4(SLC26A2):c.1818A>G (p.Pro606=)
NM_000112.4(SLC26A2):c.1819A>G (p.Ile607Val)
NM_000112.4(SLC26A2):c.1833G>A (p.Val611=)
NM_000112.4(SLC26A2):c.1833G>T (p.Val611=) rs2113699327
NM_000112.4(SLC26A2):c.1840AAG[1] (p.Lys615del)
NM_000112.4(SLC26A2):c.1847del (p.Ala616fs)
NM_000112.4(SLC26A2):c.1851A>G (p.Ala617=)
NM_000112.4(SLC26A2):c.1872A>G (p.Lys624=) rs2113699382
NM_000112.4(SLC26A2):c.1878G>A (p.Val626=)
NM_000112.4(SLC26A2):c.1878del (p.Thr627fs) rs1755100270
NM_000112.4(SLC26A2):c.1898A>T (p.Asp633Val)
NM_000112.4(SLC26A2):c.1908A>G (p.Ser636=)
NM_000112.4(SLC26A2):c.1926del (p.Leu644fs) rs1481910744
NM_000112.4(SLC26A2):c.1936C>T (p.Leu646=)
NM_000112.4(SLC26A2):c.1939C>T (p.His647Tyr)
NM_000112.4(SLC26A2):c.1944T>C (p.Thr648=)
NM_000112.4(SLC26A2):c.1947A>C (p.Ile649=)
NM_000112.4(SLC26A2):c.1950G>A (p.Val650=)
NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs) rs1057517474
NM_000112.4(SLC26A2):c.1957T>G (p.Cys653Gly)
NM_000112.4(SLC26A2):c.1958G>A (p.Cys653Tyr) rs1179580843
NM_000112.4(SLC26A2):c.1959C>T (p.Cys653=)
NM_000112.4(SLC26A2):c.1962T>C (p.Ser654=) rs766291194
NM_000112.4(SLC26A2):c.1968del (p.Gln657fs)
NM_000112.4(SLC26A2):c.1971A>G (p.Gln657=)
NM_000112.4(SLC26A2):c.1980T>C (p.Asp660=) rs2113699529
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) rs1554095397
NM_000112.4(SLC26A2):c.1989G>A (p.Gly663=) rs1228064118
NM_000112.4(SLC26A2):c.1992C>G (p.Ile664Met)
NM_000112.4(SLC26A2):c.1992C>T (p.Ile664=)
NM_000112.4(SLC26A2):c.1994dup (p.His665fs) rs2113699563
NM_000112.4(SLC26A2):c.1995C>T (p.His665=)
NM_000112.4(SLC26A2):c.1998A>C (p.Thr666=)
NM_000112.4(SLC26A2):c.1999C>T (p.Leu667=) rs1180249974
NM_000112.4(SLC26A2):c.199A>C (p.Lys67Gln)
NM_000112.4(SLC26A2):c.2004A>G (p.Lys668=) rs2113699583
NM_000112.4(SLC26A2):c.2004_2007del (p.Glu669fs) rs1255552826
NM_000112.4(SLC26A2):c.2006A>T (p.Glu669Val) rs574817339
NM_000112.4(SLC26A2):c.2011C>T (p.Arg671Cys)
NM_000112.4(SLC26A2):c.2013C>T (p.Arg671=)
NM_000112.4(SLC26A2):c.2017_2018del (p.Asp673fs) rs772515802
NM_000112.4(SLC26A2):c.2018A>T (p.Asp673Val)
NM_000112.4(SLC26A2):c.2021A>G (p.Tyr674Cys) rs772655429
NM_000112.4(SLC26A2):c.2025A>G (p.Glu675=) rs1300640507
NM_000112.4(SLC26A2):c.2032_2033delinsCT (p.Gly678Leu) rs2113699627
NM_000112.4(SLC26A2):c.2034A>G (p.Gly678=)
NM_000112.4(SLC26A2):c.2037C>G (p.Ile679Met)
NM_000112.4(SLC26A2):c.2042T>A (p.Val681Asp) rs1755104737
NM_000112.4(SLC26A2):c.2044C>G (p.Leu682Val) rs751425859
NM_000112.4(SLC26A2):c.2049G>T (p.Leu683=) rs2113699646
NM_000112.4(SLC26A2):c.2055G>A (p.Gln685=) rs2113699656
NM_000112.4(SLC26A2):c.205T>C (p.Phe69Leu)
NM_000112.4(SLC26A2):c.2060A>G (p.Asn687Ser)
NM_000112.4(SLC26A2):c.2064C>G (p.Pro688=)
NM_000112.4(SLC26A2):c.2065A>G (p.Thr689Ala)
NM_000112.4(SLC26A2):c.2065_2066del (p.Thr689fs) rs773490671
NM_000112.4(SLC26A2):c.2067T>C (p.Thr689=) rs1031947295
NM_000112.4(SLC26A2):c.2068G>A (p.Val690Met) rs746291695
NM_000112.4(SLC26A2):c.2080C>T (p.Leu694=)
NM_000112.4(SLC26A2):c.2085C>G (p.Thr695=) rs1380563081
NM_000112.4(SLC26A2):c.2085del (p.Asn696fs)
NM_000112.4(SLC26A2):c.2087dup (p.Asn696fs)
NM_000112.4(SLC26A2):c.2088C>T (p.Asn696=) rs780668685
NM_000112.4(SLC26A2):c.2088_2089delinsGT (p.Asn696_Gly697delinsLysTer)
NM_000112.4(SLC26A2):c.2095del (p.Tyr699fs)
NM_000112.4(SLC26A2):c.2097T>A (p.Tyr699Ter) rs761932822
NM_000112.4(SLC26A2):c.2100C>T (p.Cys700=) rs770187272
NM_000112.4(SLC26A2):c.2105dup (p.Glu703fs) rs1581232733
NM_000112.4(SLC26A2):c.2109del (p.Glu704fs)
NM_000112.4(SLC26A2):c.210T>A (p.Val70=) rs2113695741
NM_000112.4(SLC26A2):c.2124C>T (p.Leu708=)
NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs) rs1554095433
NM_000112.4(SLC26A2):c.2127C>T (p.Phe709=)
NM_000112.4(SLC26A2):c.2130T>C (p.Tyr710=)
NM_000112.4(SLC26A2):c.2136G>A (p.Val712=)
NM_000112.4(SLC26A2):c.2143G>A (p.Ala715Thr) rs759438521
NM_000112.4(SLC26A2):c.2146A>G (p.Met716Val)
NM_000112.4(SLC26A2):c.214A>T (p.Lys72Ter)
NM_000112.4(SLC26A2):c.216A>G (p.Lys72=) rs1755020230
NM_000112.4(SLC26A2):c.2181A>T (p.Gly727=) rs1755110758
NM_000112.4(SLC26A2):c.218del (p.Lys73fs) rs2113695746
NM_000112.4(SLC26A2):c.2193C>T (p.Pro731=) rs2113699885
NM_000112.4(SLC26A2):c.2217_*4del (p.Asp739fs)
NM_000112.4(SLC26A2):c.225GAA[1] (p.Lys76del) rs1204857377
NM_000112.4(SLC26A2):c.228G>A (p.Lys76=) rs2113695768
NM_000112.4(SLC26A2):c.235C>T (p.Gln79Ter) rs1755020578
NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs) rs1057517504
NM_000112.4(SLC26A2):c.241del (p.Ser81fs)
NM_000112.4(SLC26A2):c.243T>C (p.Ser81=)
NM_000112.4(SLC26A2):c.246A>G (p.Pro82=) rs1755020721
NM_000112.4(SLC26A2):c.255C>A (p.Ala85=) rs2113695792
NM_000112.4(SLC26A2):c.25C>G (p.His9Asp)
NM_000112.4(SLC26A2):c.261T>C (p.Asn87=) rs2113695802
NM_000112.4(SLC26A2):c.264G>A (p.Met88Ile)
NM_000112.4(SLC26A2):c.276C>T (p.Phe92=)
NM_000112.4(SLC26A2):c.277del (p.Leu93fs)
NM_000112.4(SLC26A2):c.279T>C (p.Leu93=) rs2113695822
NM_000112.4(SLC26A2):c.291G>A (p.Gln97=)
NM_000112.4(SLC26A2):c.294G>A (p.Trp98Ter)
NM_000112.4(SLC26A2):c.297C>A (p.Leu99=) rs2113695846
NM_000112.4(SLC26A2):c.306C>G (p.Tyr102Ter) rs768809642
NM_000112.4(SLC26A2):c.309_327del (p.Asp103fs)
NM_000112.4(SLC26A2):c.310C>T (p.Leu104=) rs773000413
NM_000112.4(SLC26A2):c.315G>A (p.Lys105=) rs1315598449
NM_000112.4(SLC26A2):c.321C>T (p.Asn107=) rs1755022549
NM_000112.4(SLC26A2):c.327A>G (p.Leu109=)
NM_000112.4(SLC26A2):c.354G>T (p.Val118=)
NM_000112.4(SLC26A2):c.364T>C (p.Leu122=) rs2113695923
NM_000112.4(SLC26A2):c.370C>A (p.Pro124Thr)
NM_000112.4(SLC26A2):c.372C>G (p.Pro124=)
NM_000112.4(SLC26A2):c.373C>T (p.Gln125Ter)
NM_000112.4(SLC26A2):c.375G>A (p.Gln125=)
NM_000112.4(SLC26A2):c.378C>G (p.Ser126=)
NM_000112.4(SLC26A2):c.381T>G (p.Ile127Met)
NM_000112.4(SLC26A2):c.384T>A (p.Ala128=)
NM_000112.4(SLC26A2):c.390C>G (p.Ser130=)
NM_000112.4(SLC26A2):c.390C>T (p.Ser130=) rs1304914344
NM_000112.4(SLC26A2):c.391del (p.Leu131fs) rs786200881
NM_000112.4(SLC26A2):c.393G>C (p.Leu131=)
NM_000112.4(SLC26A2):c.399_402dup (p.Gln135fs)
NM_000112.4(SLC26A2):c.402C>T (p.Gly134=)
NM_000112.4(SLC26A2):c.411T>G (p.Pro137=)
NM_000112.4(SLC26A2):c.414C>A (p.Val138=)
NM_000112.4(SLC26A2):c.420T>C (p.Gly140=)
NM_000112.4(SLC26A2):c.421C>T (p.Leu141=) rs1755026916
NM_000112.4(SLC26A2):c.423G>A (p.Leu141=) rs536620072
NM_000112.4(SLC26A2):c.426C>A (p.Tyr142Ter)
NM_000112.4(SLC26A2):c.426C>T (p.Tyr142=) rs2113695999
NM_000112.4(SLC26A2):c.429A>T (p.Thr143=)
NM_000112.4(SLC26A2):c.431C>A (p.Ser144Tyr)
NM_000112.4(SLC26A2):c.438del (p.Phe146fs) rs769859976
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) rs769859976
NM_000112.4(SLC26A2):c.441C>G (p.Ala147=)
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) rs786204675
NM_000112.4(SLC26A2):c.469T>A (p.Ser157Thr)
NM_000112.4(SLC26A2):c.473G>T (p.Arg158Leu) rs143658243
NM_000112.4(SLC26A2):c.480C>A (p.Ile160=)
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) rs763198695
NM_000112.4(SLC26A2):c.51T>C (p.Ala17=)
NM_000112.4(SLC26A2):c.51T>G (p.Ala17=) rs369248348
NM_000112.4(SLC26A2):c.534A>G (p.Arg178=)
NM_000112.4(SLC26A2):c.540A>G (p.Leu180=)
NM_000112.4(SLC26A2):c.552C>G (p.Gly184=)
NM_000112.4(SLC26A2):c.558C>T (p.Asp186=)
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter) rs386833507
NM_000112.4(SLC26A2):c.560A>G (p.Asn187Ser)
NM_000112.4(SLC26A2):c.567dup (p.Ser190Ter)
NM_000112.4(SLC26A2):c.568A>G (p.Ser190Gly)
NM_000112.4(SLC26A2):c.573T>C (p.Ala191=) rs137932620
NM_000112.4(SLC26A2):c.573T>G (p.Ala191=) rs137932620
NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer) rs1554095154
NM_000112.4(SLC26A2):c.57A>G (p.Gly19=) rs2113695489
NM_000112.4(SLC26A2):c.58_62dup (p.Asp21fs) rs2113695485
NM_000112.4(SLC26A2):c.596A>G (p.Asn199Ser) rs2113696251
NM_000112.4(SLC26A2):c.600G>A (p.Gly200=) rs1301316751
NM_000112.4(SLC26A2):c.610T>G (p.Leu204Val)
NM_000112.4(SLC26A2):c.617A>G (p.His206Arg)
NM_000112.4(SLC26A2):c.627C>A (p.Asp209Glu)
NM_000112.4(SLC26A2):c.627C>T (p.Asp209=)
NM_000112.4(SLC26A2):c.630G>A (p.Arg210=)
NM_000112.4(SLC26A2):c.630G>C (p.Arg210Ser)
NM_000112.4(SLC26A2):c.635G>T (p.Cys212Phe)
NM_000112.4(SLC26A2):c.636T>C (p.Cys212=) rs2113696306
NM_000112.4(SLC26A2):c.650A>G (p.Tyr217Cys)
NM_000112.4(SLC26A2):c.651T>C (p.Tyr217=)
NM_000112.4(SLC26A2):c.672T>C (p.Thr224=)
NM_000112.4(SLC26A2):c.678C>A (p.Thr226=) rs890587176
NM_000112.4(SLC26A2):c.687T>G (p.Ala229=)
NM_000112.4(SLC26A2):c.695A>G (p.Tyr232Cys)
NM_000112.4(SLC26A2):c.695dup (p.Tyr232Ter)
NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter) rs1429562386
NM_000112.4(SLC26A2):c.699+15A>G
NM_000112.4(SLC26A2):c.699+17C>T
NM_000112.4(SLC26A2):c.69T>C (p.Tyr23=)
NM_000112.4(SLC26A2):c.69del (p.Pro24fs)
NM_000112.4(SLC26A2):c.700-12C>A
NM_000112.4(SLC26A2):c.700-14A>G
NM_000112.4(SLC26A2):c.700-16A>G
NM_000112.4(SLC26A2):c.700-18C>T
NM_000112.4(SLC26A2):c.700-8C>T
NM_000112.4(SLC26A2):c.705_711del (p.Met236fs) rs386833508
NM_000112.4(SLC26A2):c.706A>G (p.Met236Val)
NM_000112.4(SLC26A2):c.718C>G (p.Gln240Glu) rs1755069507
NM_000112.4(SLC26A2):c.719A>T (p.Gln240Leu)
NM_000112.4(SLC26A2):c.725G>T (p.Gly242Val)
NM_000112.4(SLC26A2):c.72A>C (p.Pro24=) rs759789848
NM_000112.4(SLC26A2):c.72A>G (p.Pro24=)
NM_000112.4(SLC26A2):c.732T>C (p.Val244=) rs2113697643
NM_000112.4(SLC26A2):c.736_739del (p.Val246fs) rs1057517524
NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter) rs1057517514
NM_000112.4(SLC26A2):c.74C>G (p.Ser25Cys)
NM_000112.4(SLC26A2):c.750T>C (p.Asp250=) rs1180284436
NM_000112.4(SLC26A2):c.759G>A (p.Leu253=) rs2113697685
NM_000112.4(SLC26A2):c.75T>A (p.Ser25=)
NM_000112.4(SLC26A2):c.75T>C (p.Ser25=) rs1755017011
NM_000112.4(SLC26A2):c.765A>C (p.Gly255=) rs1755070961
NM_000112.4(SLC26A2):c.771C>T (p.Val257=) rs2113697700
NM_000112.4(SLC26A2):c.774T>C (p.Thr258=) rs2113697701
NM_000112.4(SLC26A2):c.775G>A (p.Gly259Ser) rs2113697704
NM_000112.4(SLC26A2):c.777T>G (p.Gly259=) rs2113697709
NM_000112.4(SLC26A2):c.779C>T (p.Ala260Val)
NM_000112.4(SLC26A2):c.786C>T (p.Phe262=) rs1581231627
NM_000112.4(SLC26A2):c.78G>T (p.Gly26=)
NM_000112.4(SLC26A2):c.78_88dup (p.Glu30fs) rs2113695509
NM_000112.4(SLC26A2):c.795T>C (p.Leu265=)
NM_000112.4(SLC26A2):c.810G>A (p.Lys270=) rs753179470
NM_000112.4(SLC26A2):c.819del (p.Leu275fs) rs750882937
NM_000112.4(SLC26A2):c.833C>T (p.Pro278Leu) rs1755072978
NM_000112.4(SLC26A2):c.836G>C (p.Arg279Pro) rs114569184
NM_000112.4(SLC26A2):c.837G>T (p.Arg279=) rs1755073343
NM_000112.4(SLC26A2):c.840dup (p.Asn281Ter)
NM_000112.4(SLC26A2):c.842_865del (p.Asn281_Thr288del) rs2113697812
NM_000112.4(SLC26A2):c.844G>C (p.Gly282Arg) rs571410872
NM_000112.4(SLC26A2):c.846T>C (p.Gly282=)
NM_000112.4(SLC26A2):c.854C>A (p.Ser285Ter)
NM_000112.4(SLC26A2):c.854C>T (p.Ser285Leu) rs140041300
NM_000112.4(SLC26A2):c.858C>A (p.Leu286=)
NM_000112.4(SLC26A2):c.864T>C (p.Thr288=)
NM_000112.4(SLC26A2):c.866C>A (p.Thr289Asn) rs1225377370
NM_000112.4(SLC26A2):c.867C>G (p.Thr289=) rs1755075168
NM_000112.4(SLC26A2):c.876T>C (p.His292=) rs1581231740
NM_000112.4(SLC26A2):c.888C>T (p.Asn296=)
NM_000112.4(SLC26A2):c.892C>A (p.His298Asn) rs1025069199
NM_000112.4(SLC26A2):c.902A>G (p.Asn301Ser) rs750646790
NM_000112.4(SLC26A2):c.906_907del (p.Leu302_Cys303insTer) rs386833509
NM_000112.4(SLC26A2):c.909T>A (p.Cys303Ter)
NM_000112.4(SLC26A2):c.90A>G (p.Glu30=)
NM_000112.4(SLC26A2):c.916_929dup (p.Cys311fs)
NM_000112.4(SLC26A2):c.922del (p.Ser308fs) rs1057517495
NM_000112.4(SLC26A2):c.925C>T (p.Leu309Phe)
NM_000112.4(SLC26A2):c.925del (p.Leu309fs) rs1554095296
NM_000112.4(SLC26A2):c.931T>C (p.Cys311Arg) rs377432261
NM_000112.4(SLC26A2):c.933C>T (p.Cys311=)
NM_000112.4(SLC26A2):c.93T>A (p.Leu31=)
NM_000112.4(SLC26A2):c.951A>G (p.Pro317=)
NM_000112.4(SLC26A2):c.953C>T (p.Thr318Ile)
NM_000112.4(SLC26A2):c.95A>T (p.Gln32Leu)
NM_000112.4(SLC26A2):c.961del (p.Leu321fs)
NM_000112.4(SLC26A2):c.963C>T (p.Leu321=)
NM_000112.4(SLC26A2):c.965A>G (p.Asn322Ser) rs2113698024
NM_000112.4(SLC26A2):c.980C>T (p.Ser327Phe)
NM_000112.4(SLC26A2):c.984G>A (p.Lys328=)
NM_000112.4(SLC26A2):c.987T>A (p.Leu329=) rs116302615
NM_000112.4(SLC26A2):c.990_992del (p.Ala331del)

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