|
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr)
|
rs30832
|
0.99306
|
|
NM_000112.4(SLC26A2):c.*3404C>T
|
rs30833
|
0.98883
|
|
NM_000112.4(SLC26A2):c.*1024T>G
|
rs8073
|
0.21816
|
|
NM_000112.4(SLC26A2):c.*5553G>A
|
rs10476926
|
0.20874
|
|
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser)
|
rs3776070
|
0.19906
|
|
NM_000112.4(SLC26A2):c.*5338T>C
|
rs17711997
|
0.14477
|
|
NM_000112.4(SLC26A2):c.*4982A>G
|
rs74589369
|
0.04589
|
|
NM_000112.4(SLC26A2):c.*1892dup
|
rs148778566
|
0.04587
|
|
NM_000112.4(SLC26A2):c.*3670G>A
|
rs76262875
|
0.04581
|
|
NM_000112.4(SLC26A2):c.*2226C>T
|
rs7722454
|
0.04260
|
|
NM_000112.4(SLC26A2):c.*4460G>T
|
rs111742763
|
0.03131
|
|
NM_000112.4(SLC26A2):c.*590C>T
|
rs1046710
|
0.03077
|
|
NM_000112.4(SLC26A2):c.*1631C>T
|
rs7717795
|
0.03068
|
|
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)
|
rs78676079
|
0.01642
|
|
NM_000112.4(SLC26A2):c.*2617C>T
|
rs188922059
|
0.01558
|
|
NM_000112.4(SLC26A2):c.*4391G>T
|
rs150508217
|
0.01531
|
|
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=)
|
rs61732052
|
0.01353
|
|
NM_000112.4(SLC26A2):c.*3466C>G
|
rs6888879
|
0.01309
|
|
NM_000112.4(SLC26A2):c.*2612C>T
|
rs28451300
|
0.01303
|
|
NM_000112.4(SLC26A2):c.*4799G>A
|
rs72832119
|
0.01211
|
|
NM_000112.4(SLC26A2):c.*394T>A
|
rs140641532
|
0.00987
|
|
NM_000112.4(SLC26A2):c.*4870dup
|
rs368872246
|
0.00983
|
|
NM_000112.4(SLC26A2):c.*938T>C
|
rs150188068
|
0.00983
|
|
NM_000112.4(SLC26A2):c.*4930C>T
|
rs79521091
|
0.00981
|
|
NM_000112.4(SLC26A2):c.*2873C>T
|
rs114919633
|
0.00970
|
|
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val)
|
rs35919114
|
0.00795
|
|
NM_000112.4(SLC26A2):c.*1552G>C
|
rs143723917
|
0.00675
|
|
NM_000112.4(SLC26A2):c.*2780G>A
|
rs9324635
|
0.00587
|
|
NM_000112.4(SLC26A2):c.*330G>T
|
rs191884433
|
0.00587
|
|
NM_000112.4(SLC26A2):c.-183G>C
|
rs540241474
|
0.00338
|
|
NM_000112.4(SLC26A2):c.*3507T>A
|
rs180966130
|
0.00309
|
|
NM_000112.4(SLC26A2):c.*205G>A
|
rs115383424
|
0.00280
|
|
NM_000112.4(SLC26A2):c.*2470T>G
|
rs555959221
|
0.00274
|
|
NM_000112.4(SLC26A2):c.*443T>C
|
rs115977282
|
0.00246
|
|
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.*4659G>T
|
rs143908264
|
0.00169
|
|
NM_000112.4(SLC26A2):c.*1970G>T
|
rs147208348
|
0.00148
|
|
NM_000112.4(SLC26A2):c.*600G>T
|
rs143723255
|
0.00148
|
|
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.*1032G>T
|
rs188329536
|
0.00085
|
|
NM_000112.4(SLC26A2):c.*1588T>C
|
rs537659797
|
0.00083
|
|
NM_000112.4(SLC26A2):c.*300C>T
|
rs570796999
|
0.00077
|
|
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.*3225T>C
|
rs144502932
|
0.00064
|
|
NM_000112.4(SLC26A2):c.*3307A>G
|
rs557854258
|
0.00060
|
|
NM_000112.4(SLC26A2):c.-162T>C
|
rs564087874
|
0.00060
|
|
NM_000112.4(SLC26A2):c.*3262T>C
|
rs545457852
|
0.00059
|
|
NM_000112.4(SLC26A2):c.-26+2T>C
|
rs386833492
|
0.00055
|
|
NM_000112.4(SLC26A2):c.-40G>A
|
rs532461120
|
0.00045
|
|
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.*1427G>A
|
rs760907801
|
0.00026
|
|
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.*2720C>T
|
rs557400349
|
0.00023
|
|
NM_000112.4(SLC26A2):c.*4462T>G
|
rs999338434
|
0.00023
|
|
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.*3435C>G
|
rs189916904
|
0.00021
|
|
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=)
|
rs115777661
|
0.00017
|
|
NM_000112.4(SLC26A2):c.*1935T>A
|
rs537754833
|
0.00015
|
|
NM_000112.4(SLC26A2):c.*2978A>G
|
rs181164665
|
0.00014
|
|
NM_000112.4(SLC26A2):c.*3165G>A
|
rs185603342
|
0.00014
|
|
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_000112.3(SLC26A2):c.-256G>A
|
rs886060219
|
0.00011
|
|
NM_000112.4(SLC26A2):c.*2176A>G
|
rs772022436
|
0.00011
|
|
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.*4612G>A
|
rs886060251
|
0.00010
|
|
NM_000112.4(SLC26A2):c.196T>C (p.Phe66Leu)
|
rs200981220
|
0.00010
|
|
NM_000112.4(SLC26A2):c.*4397A>G
|
rs547302746
|
0.00009
|
|
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.*4586C>T
|
rs886060250
|
0.00008
|
|
NM_000112.3(SLC26A2):c.-264C>T
|
rs963803079
|
0.00007
|
|
NM_000112.4(SLC26A2):c.*834T>C
|
rs767822866
|
0.00007
|
|
NM_000112.4(SLC26A2):c.*2003A>G
|
rs886060237
|
0.00006
|
|
NM_000112.4(SLC26A2):c.*3580A>G
|
rs148424806
|
0.00006
|
|
NM_000112.4(SLC26A2):c.*4064dup
|
rs886060247
|
0.00006
|
|
NM_000112.4(SLC26A2):c.*4224A>G
|
rs777116235
|
0.00006
|
|
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.700-1G>C
|
rs200963884
|
0.00005
|
|
NM_000112.4(SLC26A2):c.*2212T>G
|
rs777419320
|
0.00004
|
|
NM_000112.4(SLC26A2):c.*2232A>T
|
rs1233972792
|
0.00004
|
|
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.1609T>C (p.Phe537Leu)
|
rs762087746
|
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.*216T>G
|
rs886060227
|
0.00003
|
|
NM_000112.4(SLC26A2):c.*2603T>C
|
rs749507700
|
0.00003
|
|
NM_000112.4(SLC26A2):c.*2772C>T
|
rs886060242
|
0.00003
|
|
NM_000112.4(SLC26A2):c.*3918C>T
|
rs192457706
|
0.00003
|
|
NM_000112.4(SLC26A2):c.*4782A>G
|
rs886060252
|
0.00003
|
|
NM_000112.4(SLC26A2):c.*693G>T
|
rs974372860
|
0.00003
|
|
NM_000112.4(SLC26A2):c.-235T>C
|
rs760297706
|
0.00003
|
|
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.403C>A (p.Gln135Lys)
|
rs386833504
|
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.*182C>G
|
rs770082455
|
0.00002
|
|
NM_000112.4(SLC26A2):c.*220T>A
|
rs775637237
|
0.00002
|
|
NM_000112.4(SLC26A2):c.*2289T>C
|
rs886060238
|
0.00002
|
|
NM_000112.4(SLC26A2):c.*2443A>G
|
rs886060241
|
0.00002
|
|
NM_000112.4(SLC26A2):c.*453G>A
|
rs886060229
|
0.00002
|
|
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.2033G>T (p.Gly678Val)
|
rs104893916
|
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.*1071G>A
|
rs1297589956
|
0.00001
|
|
NM_000112.4(SLC26A2):c.*2265C>T
|
rs1561826201
|
0.00001
|
|
NM_000112.4(SLC26A2):c.*2330C>T
|
rs886060239
|
0.00001
|
|
NM_000112.4(SLC26A2):c.*3037G>A
|
rs1171255123
|
0.00001
|
|
NM_000112.4(SLC26A2):c.*3261A>C
|
rs886060245
|
0.00001
|
|
NM_000112.4(SLC26A2):c.*5077A>G
|
rs1430276243
|
0.00001
|
|
NM_000112.4(SLC26A2):c.*5203C>T
|
rs559269489
|
0.00001
|
|
NM_000112.4(SLC26A2):c.*5251C>T
|
rs569655749
|
0.00001
|
|
NM_000112.4(SLC26A2):c.*53C>G
|
rs886060226
|
0.00001
|
|
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.1361A>C (p.Gln454Pro)
|
rs104893921
|
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.1451G>A (p.Gly484Asp)
|
rs386833496
|
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.280C>T (p.Pro94Ser)
|
rs771569066
|
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.398C>T (p.Ala133Val)
|
rs267607055
|
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.*1040T>C
|
rs1755133644
|
|
|
NM_000112.4(SLC26A2):c.*1146G>T
|
rs886060232
|
|
|
NM_000112.4(SLC26A2):c.*1221del
|
rs886060233
|
|
|
NM_000112.4(SLC26A2):c.*1221dup
|
rs886060233
|
|
|
NM_000112.4(SLC26A2):c.*1260C>T
|
rs568364063
|
|
|
NM_000112.4(SLC26A2):c.*1376T>G
|
rs1028181479
|
|
|
NM_000112.4(SLC26A2):c.*1543C>T
|
rs886060235
|
|
|
NM_000112.4(SLC26A2):c.*204C>T
|
rs529744947
|
|
|
NM_000112.4(SLC26A2):c.*2357T>C
|
rs886060240
|
|
|
NM_000112.4(SLC26A2):c.*2476T>C
|
rs570682108
|
|
|
NM_000112.4(SLC26A2):c.*264C>G
|
rs886060228
|
|
|
NM_000112.4(SLC26A2):c.*2790G>A
|
rs886060243
|
|
|
NM_000112.4(SLC26A2):c.*2970G>A
|
rs572039810
|
|
|
NM_000112.4(SLC26A2):c.*3044G>A
|
rs886060244
|
|
|
NM_000112.4(SLC26A2):c.*3360A>T
|
rs1755178371
|
|
|
NM_000112.4(SLC26A2):c.*3690CAG[1]
|
rs886060246
|
|
|
NM_000112.4(SLC26A2):c.*3940C>T
|
rs1048014506
|
|
|
NM_000112.4(SLC26A2):c.*4017C>A
|
rs1755189390
|
|
|
NM_000112.4(SLC26A2):c.*4104A>T
|
rs1372026789
|
|
|
NM_000112.4(SLC26A2):c.*4333G>A
|
rs886060248
|
|
|
NM_000112.4(SLC26A2):c.*4419A>C
|
rs140200789
|
|
|
NM_000112.4(SLC26A2):c.*4469del
|
rs397883627
|
|
|
NM_000112.4(SLC26A2):c.*4469dup
|
rs397883627
|
|
|
NM_000112.4(SLC26A2):c.*4514T>G
|
rs1755199198
|
|
|
NM_000112.4(SLC26A2):c.*4857A>G
|
rs1755205853
|
|
|
NM_000112.4(SLC26A2):c.*5214A>G
|
rs1755210770
|
|
|
NM_000112.4(SLC26A2):c.*5387T>G
|
rs567348765
|
|
|
NM_000112.4(SLC26A2):c.*5416A>C
|
rs1007945580
|
|
|
NM_000112.4(SLC26A2):c.*896A>G
|
rs886060230
|
|
|
NM_000112.4(SLC26A2):c.*974C>G
|
rs886060231
|
|
|
NM_000112.4(SLC26A2):c.-163T>C
|
rs886060221
|
|
|
NM_000112.4(SLC26A2):c.-206T>A
|
rs560467935
|
|
|
NM_000112.4(SLC26A2):c.-223A>G
|
rs886060220
|
|
|
NM_000112.4(SLC26A2):c.-229T>C
|
rs766027398
|
|
|
NM_000112.4(SLC26A2):c.-238G>A
|
rs11953129
|
|
|
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.1011TGT[5] (p.Val341dup)
|
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.1058A>G (p.His353Arg)
|
rs1392464335
|
|
|
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.1114A>T (p.Lys372Ter)
|
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.1241C>T (p.Ala414Val)
|
rs2113698470
|
|
|
NM_000112.4(SLC26A2):c.1242_1245del (p.Asn415fs)
|
rs386833494
|
|
|
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.1311dup (p.Ala438fs)
|
rs1057517471
|
|
|
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.1338del (p.Glu447fs)
|
rs1057517502
|
|
|
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.1375_1377dup (p.Val459dup)
|
rs2113698643
|
|
|
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.1402C>T (p.Leu468Phe)
|
rs886060224
|
|
|
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.1668G>T (p.Leu556Phe)
|
rs2113699055
|
|
|
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.1773_1776del (p.Asn591fs)
|
rs1755096552
|
|
|
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.1819del (p.Ile607fs)
|
|
|
|
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.1849G>A (p.Ala617Thr)
|
rs2113699347
|
|
|
NM_000112.4(SLC26A2):c.1851A>G (p.Ala617=)
|
|
|
|
NM_000112.4(SLC26A2):c.185C>G (p.Ser62Ter)
|
rs1057517523
|
|
|
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.188del (p.Asp63fs)
|
rs1057517496
|
|
|
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.1976del (p.Phe658_Leu659insTer)
|
rs386833499
|
|
|
NM_000112.4(SLC26A2):c.1980T>C (p.Asp660=)
|
rs2113699529
|
|
|
NM_000112.4(SLC26A2):c.1983del (p.Ala662fs)
|
rs386833500
|
|
|
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.1998_1999del (p.Leu667fs)
|
rs1057517513
|
|
|
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.2057G>A (p.Cys686Tyr)
|
rs1581232671
|
|
|
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.207del (p.Phe69fs)
|
rs1057517462
|
|
|
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.2120_2121del (p.Leu707fs)
|
rs386833501
|
|
|
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.255del (p.Asn87fs)
|
rs386833502
|
|
|
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.331G>T (p.Asp111Tyr)
|
rs386833503
|
|
|
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.47C>G (p.Ser16Ter)
|
rs386833505
|
|
|
NM_000112.4(SLC26A2):c.480C>A (p.Ile160=)
|
|
|
|
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.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.541C>T (p.Gln181Ter)
|
rs1057517483
|
|
|
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+13G>T
|
rs886060222
|
|
|
NM_000112.4(SLC26A2):c.699+15A>G
|
|
|
|
NM_000112.4(SLC26A2):c.699+17C>T
|
|
|
|
NM_000112.4(SLC26A2):c.699+2T>C
|
rs1057517461
|
|
|
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.710G>T (p.Gly237Val)
|
rs1228615816
|
|
|
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.749A>T (p.Asp250Val)
|
rs2113697665
|
|
|
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.793C>T (p.Leu265Phe)
|
rs886060223
|
|
|
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.841A>C (p.Asn281His)
|
rs1755073505
|
|
|
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.844G>T (p.Gly282Cys)
|
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.918del (p.Thr307fs)
|
rs1057517526
|
|
|
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=)
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NM_000112.4(SLC26A2):c.987T>A (p.Leu329=)
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rs116302615
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NM_000112.4(SLC26A2):c.990_992del (p.Ala331del)
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