NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_000112.4(SLC26A2):c.-26+2T>C
|
rs386833492
|
0.00055
|
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.1994A>C (p.His665Pro)
|
rs141798540
|
0.00006
|
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.1343C>G (p.Ser448Ter)
|
rs771098555
|
0.00001
|
NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys)
|
rs121908078
|
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.796dup (p.Thr266fs)
|
rs767996373
|
0.00001
|
NC_000005.9:g.(?_149357216)_(149361376_?)del
|
|
|
NM_000112.4(SLC26A2):c.100del (p.Glu34fs)
|
rs2113695568
|
|
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)
|
rs121908077
|
|
NM_000112.4(SLC26A2):c.104C>G (p.Ser35Ter)
|
|
|
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.1147_1150del (p.Val382_Ala383insTer)
|
rs1294262903
|
|
NM_000112.4(SLC26A2):c.1155del (p.Asp385fs)
|
rs2113698329
|
|
NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val)
|
rs386833493
|
|
NM_000112.4(SLC26A2):c.118A>T (p.Lys40Ter)
|
|
|
NM_000112.4(SLC26A2):c.1203_1204insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATTTTCT (p.Glu402delinsPhePhePhePhePhePheXaaXaaXaaXaaThrGlyPheHisLeuValSerGlnAspGlyLeuAspLeuLeuThrSerTer)
|
rs2113698410
|
|
NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter)
|
rs2113698485
|
|
NM_000112.4(SLC26A2):c.1272dup (p.Asn425Ter)
|
rs2113698511
|
|
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)
|
rs104893920
|
|
NM_000112.4(SLC26A2):c.1306del (p.Thr436fs)
|
rs1290183098
|
|
NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter)
|
|
|
NM_000112.4(SLC26A2):c.1343C>A (p.Ser448Ter)
|
|
|
NM_000112.4(SLC26A2):c.136_137insTT (p.Asp46fs)
|
|
|
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.1397dup (p.Leu466fs)
|
rs1755088251
|
|
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs)
|
rs780990131
|
|
NM_000112.4(SLC26A2):c.1428T>G (p.Tyr476Ter)
|
|
|
NM_000112.4(SLC26A2):c.1432del (p.Leu478fs)
|
rs1755089179
|
|
NM_000112.4(SLC26A2):c.1441del (p.Ser481fs)
|
rs745774620
|
|
NM_000112.4(SLC26A2):c.1441dup (p.Ser481fs)
|
rs745774620
|
|
NM_000112.4(SLC26A2):c.1483dup (p.Leu495fs)
|
|
|
NM_000112.4(SLC26A2):c.1487_1488insGGCG (p.Lys497fs)
|
rs2113698812
|
|
NM_000112.4(SLC26A2):c.1509_1514del (p.Met504_Trp505del)
|
|
|
NM_000112.4(SLC26A2):c.1514G>A (p.Trp505Ter)
|
|
|
NM_000112.4(SLC26A2):c.1535_1536del (p.Thr512fs)
|
|
|
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)
|
rs1057517511
|
|
NM_000112.4(SLC26A2):c.1592del (p.Leu531fs)
|
rs2113698924
|
|
NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs)
|
rs1459144096
|
|
NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs)
|
rs1755093032
|
|
NM_000112.4(SLC26A2):c.1630del (p.Leu544fs)
|
|
|
NM_000112.4(SLC26A2):c.1649del (p.Lys550fs)
|
rs1057517482
|
|
NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter)
|
rs1755094376
|
|
NM_000112.4(SLC26A2):c.1691_1698dup (p.Ser567fs)
|
|
|
NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter)
|
rs766836061
|
|
NM_000112.4(SLC26A2):c.1714del (p.Leu572fs)
|
rs2113699101
|
|
NM_000112.4(SLC26A2):c.1720_1721insCTAAGCCAGGCATCAAGATTTTCCGCTTTGTAGCCCCTCTCTACTACAGA (p.Ile574fs)
|
|
|
NM_000112.4(SLC26A2):c.1720del (p.Ile574fs)
|
rs2113699112
|
|
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)
|
rs386833498
|
|
NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter)
|
rs1554095364
|
|
NM_000112.4(SLC26A2):c.1767C>A (p.Tyr589Ter)
|
|
|
NM_000112.4(SLC26A2):c.1768_1769insGACTAAGCCAGGCATCAAGATTTTCCGCTTTGTAGCCCCTCTCTACTACA (p.Ile590delinsArgLeuSerGlnAlaSerArgPheSerAlaLeuTer)
|
|
|
NM_000112.4(SLC26A2):c.1772del (p.Asn591fs)
|
rs2113699214
|
|
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)
|
rs905644652
|
|
NM_000112.4(SLC26A2):c.1796T>A (p.Leu599Ter)
|
|
|
NM_000112.4(SLC26A2):c.1805_1808del (p.Gln602fs)
|
|
|
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)
|
rs1057517530
|
|
NM_000112.4(SLC26A2):c.1810_1811del (p.Val604fs)
|
rs2113699284
|
|
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)
|
rs1554095374
|
|
NM_000112.4(SLC26A2):c.1847del (p.Ala616fs)
|
|
|
NM_000112.4(SLC26A2):c.1878del (p.Thr627fs)
|
rs1755100270
|
|
NM_000112.4(SLC26A2):c.1926del (p.Leu644fs)
|
rs1481910744
|
|
NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs)
|
rs1057517474
|
|
NM_000112.4(SLC26A2):c.1968del (p.Gln657fs)
|
|
|
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)
|
rs1554095397
|
|
NM_000112.4(SLC26A2):c.1994dup (p.His665fs)
|
rs2113699563
|
|
NM_000112.4(SLC26A2):c.2004_2007del (p.Glu669fs)
|
rs1255552826
|
|
NM_000112.4(SLC26A2):c.2017_2018del (p.Asp673fs)
|
rs772515802
|
|
NM_000112.4(SLC26A2):c.2085del (p.Asn696fs)
|
|
|
NM_000112.4(SLC26A2):c.2087dup (p.Asn696fs)
|
|
|
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.2109del (p.Glu704fs)
|
|
|
NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs)
|
rs1554095433
|
|
NM_000112.4(SLC26A2):c.214A>T (p.Lys72Ter)
|
|
|
NM_000112.4(SLC26A2):c.218del (p.Lys73fs)
|
rs2113695746
|
|
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.277del (p.Leu93fs)
|
|
|
NM_000112.4(SLC26A2):c.294G>A (p.Trp98Ter)
|
|
|
NM_000112.4(SLC26A2):c.306C>G (p.Tyr102Ter)
|
rs768809642
|
|
NM_000112.4(SLC26A2):c.309_327del (p.Asp103fs)
|
|
|
NM_000112.4(SLC26A2):c.347del (p.Gly115_Leu116insTer)
|
|
|
NM_000112.4(SLC26A2):c.373C>T (p.Gln125Ter)
|
|
|
NM_000112.4(SLC26A2):c.391del (p.Leu131fs)
|
rs786200881
|
|
NM_000112.4(SLC26A2):c.399_402dup (p.Gln135fs)
|
|
|
NM_000112.4(SLC26A2):c.426C>A (p.Tyr142Ter)
|
|
|
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.485_486del (p.Val162fs)
|
rs763198695
|
|
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter)
|
rs386833507
|
|
NM_000112.4(SLC26A2):c.567dup (p.Ser190Ter)
|
|
|
NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer)
|
rs1554095154
|
|
NM_000112.4(SLC26A2):c.58_62dup (p.Asp21fs)
|
rs2113695485
|
|
NM_000112.4(SLC26A2):c.695dup (p.Tyr232Ter)
|
|
|
NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter)
|
rs1429562386
|
|
NM_000112.4(SLC26A2):c.69del (p.Pro24fs)
|
|
|
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.78_88dup (p.Glu30fs)
|
rs2113695509
|
|
NM_000112.4(SLC26A2):c.819del (p.Leu275fs)
|
rs750882937
|
|
NM_000112.4(SLC26A2):c.822del (p.Leu275fs)
|
|
|
NM_000112.4(SLC26A2):c.840dup (p.Asn281Ter)
|
|
|
NM_000112.4(SLC26A2):c.854C>A (p.Ser285Ter)
|
|
|
NM_000112.4(SLC26A2):c.874_875dup (p.Val293fs)
|
|
|
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.916_929dup (p.Cys311fs)
|
|
|
NM_000112.4(SLC26A2):c.922del (p.Ser308fs)
|
rs1057517495
|
|
NM_000112.4(SLC26A2):c.925del (p.Leu309fs)
|
rs1554095296
|
|
NM_000112.4(SLC26A2):c.961del (p.Leu321fs)
|
|
|