NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00014
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
NM_000112.4(SLC26A2):c.700-1G>C
|
rs200963884
|
0.00005
|
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.2144C>T (p.Ala715Val)
|
rs104893918
|
0.00003
|
NM_000112.4(SLC26A2):c.403C>A (p.Gln135Lys)
|
rs386833504
|
0.00003
|
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu)
|
rs104893917
|
0.00003
|
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)
|
rs104893916
|
0.00002
|
NM_000112.4(SLC26A2):c.1451G>A (p.Gly484Asp)
|
rs386833496
|
0.00001
|
NM_000112.4(SLC26A2):c.145del (p.Arg49fs)
|
rs1265764649
|
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.767T>C (p.Phe256Ser)
|
rs1419613966
|
0.00001
|
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val)
|
rs769319202
|
0.00001
|
NM_000112.4(SLC26A2):c.-26+1G>A
|
|
|
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)
|
rs121908077
|
|
NM_000112.4(SLC26A2):c.1034T>A (p.Leu345Ter)
|
|
|
NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter)
|
rs1057517532
|
|
NM_000112.4(SLC26A2):c.110del (p.Thr37fs)
|
|
|
NM_000112.4(SLC26A2):c.111del (p.Asp38fs)
|
|
|
NM_000112.4(SLC26A2):c.1142dup (p.Ser381fs)
|
|
|
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.1240_1244del (p.Ala414fs)
|
|
|
NM_000112.4(SLC26A2):c.1242_1245del (p.Asn415fs)
|
rs386833494
|
|
NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter)
|
rs2113698485
|
|
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.1311dup (p.Ala438fs)
|
rs1057517471
|
|
NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter)
|
|
|
NM_000112.4(SLC26A2):c.1338del (p.Glu447fs)
|
rs1057517502
|
|
NM_000112.4(SLC26A2):c.134del (p.Asn45fs)
|
|
|
NM_000112.4(SLC26A2):c.1375_1377dup (p.Val459dup)
|
rs2113698643
|
|
NM_000112.4(SLC26A2):c.1382C>T (p.Ala461Val)
|
rs2113698650
|
|
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs)
|
rs386833495
|
|
NM_000112.4(SLC26A2):c.1397dup (p.Leu466fs)
|
rs1755088251
|
|
NM_000112.4(SLC26A2):c.139C>T (p.Gln47Ter)
|
|
|
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs)
|
rs780990131
|
|
NM_000112.4(SLC26A2):c.1428T>G (p.Tyr476Ter)
|
|
|
NM_000112.4(SLC26A2):c.1441del (p.Ser481fs)
|
rs745774620
|
|
NM_000112.4(SLC26A2):c.1441dup (p.Ser481fs)
|
rs745774620
|
|
NM_000112.4(SLC26A2):c.1487_1488insGGCG (p.Lys497fs)
|
rs2113698812
|
|
NM_000112.4(SLC26A2):c.1513T>C (p.Trp505Arg)
|
rs2113698845
|
|
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)
|
rs1057517511
|
|
NM_000112.4(SLC26A2):c.1544G>A (p.Trp515Ter)
|
rs2113698870
|
|
NM_000112.4(SLC26A2):c.1596del (p.Val533fs)
|
rs1554095356
|
|
NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs)
|
rs1459144096
|
|
NM_000112.4(SLC26A2):c.1607_1610del (p.Cys536fs)
|
rs769657401
|
|
NM_000112.4(SLC26A2):c.1649del (p.Lys550fs)
|
rs1057517482
|
|
NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter)
|
rs1755094376
|
|
NM_000112.4(SLC26A2):c.165_166insCT (p.Ile56fs)
|
|
|
NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter)
|
rs766836061
|
|
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)
|
rs386833498
|
|
NM_000112.4(SLC26A2):c.1734del (p.Lys579fs)
|
|
|
NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter)
|
rs1554095364
|
|
NM_000112.4(SLC26A2):c.1773_1776del (p.Asn591fs)
|
rs1755096552
|
|
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)
|
rs905644652
|
|
NM_000112.4(SLC26A2):c.1800C>A (p.Tyr600Ter)
|
|
|
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)
|
rs1057517530
|
|
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)
|
rs1554095374
|
|
NM_000112.4(SLC26A2):c.1831del (p.Val611fs)
|
rs1057518327
|
|
NM_000112.4(SLC26A2):c.1847del (p.Ala616fs)
|
|
|
NM_000112.4(SLC26A2):c.1859del (p.Lys620fs)
|
rs1554095381
|
|
NM_000112.4(SLC26A2):c.185C>G (p.Ser62Ter)
|
rs1057517523
|
|
NM_000112.4(SLC26A2):c.1878del (p.Thr627fs)
|
rs1755100270
|
|
NM_000112.4(SLC26A2):c.188del (p.Asp63fs)
|
rs1057517496
|
|
NM_000112.4(SLC26A2):c.1926del (p.Leu644fs)
|
rs1481910744
|
|
NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs)
|
rs1057517474
|
|
NM_000112.4(SLC26A2):c.1956_1957dup (p.Cys653fs)
|
rs1554095395
|
|
NM_000112.4(SLC26A2):c.1957T>G (p.Cys653Gly)
|
|
|
NM_000112.4(SLC26A2):c.1958G>A (p.Cys653Tyr)
|
rs1179580843
|
|
NM_000112.4(SLC26A2):c.1976del (p.Phe658_Leu659insTer)
|
rs386833499
|
|
NM_000112.4(SLC26A2):c.1983del (p.Ala662fs)
|
rs386833500
|
|
NM_000112.4(SLC26A2):c.1994dup (p.His665fs)
|
rs2113699563
|
|
NM_000112.4(SLC26A2):c.1998_1999del (p.Leu667fs)
|
rs1057517513
|
|
NM_000112.4(SLC26A2):c.2017_2018del (p.Asp673fs)
|
rs772515802
|
|
NM_000112.4(SLC26A2):c.2056del (p.Cys686fs)
|
|
|
NM_000112.4(SLC26A2):c.2065_2066del (p.Thr689fs)
|
rs773490671
|
|
NM_000112.4(SLC26A2):c.2065_2068delinsTC (p.Thr689fs)
|
|
|
NM_000112.4(SLC26A2):c.2069_2070del (p.Val690fs)
|
rs1755106202
|
|
NM_000112.4(SLC26A2):c.207del (p.Phe69fs)
|
rs1057517462
|
|
NM_000112.4(SLC26A2):c.2105dup (p.Glu703fs)
|
rs1581232733
|
|
NM_000112.4(SLC26A2):c.2120_2121del (p.Leu707fs)
|
rs386833501
|
|
NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs)
|
rs1554095433
|
|
NM_000112.4(SLC26A2):c.2143G>A (p.Ala715Thr)
|
rs759438521
|
|
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.255del (p.Asn87fs)
|
rs386833502
|
|
NM_000112.4(SLC26A2):c.294G>A (p.Trp98Ter)
|
|
|
NM_000112.4(SLC26A2):c.306C>G (p.Tyr102Ter)
|
rs768809642
|
|
NM_000112.4(SLC26A2):c.314del (p.Lys105fs)
|
|
|
NM_000112.4(SLC26A2):c.325_326del (p.Leu109fs)
|
rs1554095125
|
|
NM_000112.4(SLC26A2):c.331G>T (p.Asp111Tyr)
|
rs386833503
|
|
NM_000112.4(SLC26A2):c.387T>G (p.Tyr129Ter)
|
rs1554095137
|
|
NM_000112.4(SLC26A2):c.391del (p.Leu131fs)
|
rs786200881
|
|
NM_000112.4(SLC26A2):c.395T>C (p.Leu132Pro)
|
rs1755026324
|
|
NM_000112.4(SLC26A2):c.3G>T (p.Met1Ile)
|
rs1554095084
|
|
NM_000112.4(SLC26A2):c.438del (p.Phe146fs)
|
rs769859976
|
|
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs)
|
rs769859976
|
|
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)
|
rs786204675
|
|
NM_000112.4(SLC26A2):c.469T>C (p.Ser157Pro)
|
rs776787689
|
|
NM_000112.4(SLC26A2):c.47C>G (p.Ser16Ter)
|
rs386833505
|
|
NM_000112.4(SLC26A2):c.484G>T (p.Val162Leu)
|
|
|
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)
|
rs763198695
|
|
NM_000112.4(SLC26A2):c.496G>A (p.Gly166Arg)
|
rs386833506
|
|
NM_000112.4(SLC26A2):c.499del (p.Val167fs)
|
rs1554095145
|
|
NM_000112.4(SLC26A2):c.541C>T (p.Gln181Ter)
|
rs1057517483
|
|
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter)
|
rs386833507
|
|
NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer)
|
rs1554095154
|
|
NM_000112.4(SLC26A2):c.611T>G (p.Leu204Ter)
|
rs1554095156
|
|
NM_000112.4(SLC26A2):c.613_617del (p.Asn205fs)
|
|
|
NM_000112.4(SLC26A2):c.63_64del (p.Asp21fs)
|
rs1554095097
|
|
NM_000112.4(SLC26A2):c.642_643del (p.Ser215fs)
|
rs1554095167
|
|
NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter)
|
rs1429562386
|
|
NM_000112.4(SLC26A2):c.700-2A>G
|
rs1554095266
|
|
NM_000112.4(SLC26A2):c.705_711del (p.Met236fs)
|
rs386833508
|
|
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.749A>T (p.Asp250Val)
|
rs2113697665
|
|
NM_000112.4(SLC26A2):c.758T>A (p.Leu253Gln)
|
rs1216415565
|
|
NM_000112.4(SLC26A2):c.807dup (p.Lys270fs)
|
|
|
NM_000112.4(SLC26A2):c.822del (p.Leu275fs)
|
|
|
NM_000112.4(SLC26A2):c.854C>A (p.Ser285Ter)
|
|
|
NM_000112.4(SLC26A2):c.870del (p.Thr289_Trp290insTer)
|
rs1225601391
|
|
NM_000112.4(SLC26A2):c.892del (p.His298fs)
|
|
|
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.918del (p.Thr307fs)
|
rs1057517526
|
|
NM_000112.4(SLC26A2):c.922del (p.Ser308fs)
|
rs1057517495
|
|
NM_000112.4(SLC26A2):c.925del (p.Leu309fs)
|
rs1554095296
|
|
NM_000112.4(SLC26A2):c.931T>C (p.Cys311Arg)
|
rs377432261
|
|