NM_001355436.2(SPTB):c.2154A>C (p.Ile718=)
|
rs229591
|
0.44391
|
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn)
|
rs229587
|
0.42630
|
NM_001355436.2(SPTB):c.300+7T>C
|
rs229581
|
0.41899
|
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=)
|
rs229592
|
0.41773
|
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=)
|
rs1626923
|
0.40570
|
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp)
|
rs77806
|
0.38794
|
NM_001355436.2(SPTB):c.876+5A>G
|
rs230703
|
0.36832
|
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=)
|
rs1741487
|
0.34432
|
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=)
|
rs1741488
|
0.34424
|
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=)
|
rs184528
|
0.34399
|
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=)
|
rs229586
|
0.25102
|
NM_001355436.2(SPTB):c.6023-8C>T
|
rs56181906
|
0.17449
|
NM_001355436.2(SPTB):c.6269+13C>T
|
rs11622977
|
0.17268
|
NM_001355436.2(SPTB):c.5799-7C>T
|
rs7142689
|
0.17051
|
NM_001355436.2(SPTB):c.6345+321A>G
|
rs189086
|
0.12753
|
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln)
|
rs17180350
|
0.06645
|
NM_000342.4(SLC4A1):c.*1103del
|
rs111655803
|
0.06180
|
NM_001355436.2(SPTB):c.4003-12T>C
|
rs78707026
|
0.06057
|
NM_001355436.2(SPTB):c.408C>T (p.His136=)
|
rs11623956
|
0.06031
|
NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg)
|
rs17245552
|
0.06024
|
NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=)
|
rs4899145
|
0.05960
|
NM_001355436.2(SPTB):c.4564-4G>A
|
rs4902312
|
0.05860
|
NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=)
|
rs4902310
|
0.05857
|
NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=)
|
rs4902311
|
0.05828
|
NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=)
|
rs17180252
|
0.05745
|
NM_001355436.2(SPTB):c.6345+162G>C
|
rs229601
|
0.04555
|
NM_001355436.2(SPTB):c.177C>T (p.Thr59=)
|
rs2277503
|
0.04465
|
NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg)
|
rs10132778
|
0.03447
|
NM_001355436.2(SPTB):c.666T>C (p.Phe222=)
|
rs17102119
|
0.01896
|
NM_001355436.2(SPTB):c.2934G>A (p.Glu978=)
|
rs72724498
|
0.01536
|
NM_000342.4(SLC4A1):c.*794del
|
rs45515496
|
0.01217
|
NM_001355436.2(SPTB):c.609G>A (p.Lys203=)
|
rs74666863
|
0.00811
|
NM_001355436.2(SPTB):c.1765G>A (p.Ala589Thr)
|
rs61459051
|
0.00757
|
NM_001355436.2(SPTB):c.1707G>A (p.Lys569=)
|
rs139116435
|
0.00656
|
NM_001355436.2(SPTB):c.5554-3C>T
|
rs190765118
|
0.00555
|
NM_001355436.2(SPTB):c.996C>T (p.Asn332=)
|
rs141060172
|
0.00483
|
NM_001355436.2(SPTB):c.345T>C (p.Asn115=)
|
rs17180518
|
0.00330
|
NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=)
|
rs229639
|
0.00286
|
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=)
|
rs74056006
|
0.00222
|
NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=)
|
rs229593
|
0.00197
|
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=)
|
rs114513294
|
0.00176
|
NM_001355436.2(SPTB):c.807T>C (p.Tyr269=)
|
rs115882528
|
0.00155
|
NM_001355436.2(SPTB):c.1512C>T (p.Asp504=)
|
rs150968094
|
0.00133
|
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln)
|
rs140141633
|
0.00132
|
NM_001355436.2(SPTB):c.414T>C (p.Ile138=)
|
rs139699062
|
0.00130
|
NM_001355436.2(SPTB):c.2562C>T (p.Phe854=)
|
rs12433436
|
0.00129
|
NM_001355436.2(SPTB):c.-23G>A
|
rs371035446
|
0.00120
|
NM_001355436.2(SPTB):c.204G>A (p.Leu68=)
|
rs145077630
|
0.00105
|
NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile)
|
rs3742601
|
0.00103
|
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=)
|
rs147235045
|
0.00102
|
NM_001355436.2(SPTB):c.2060G>A (p.Arg687His)
|
rs3742602
|
0.00101
|
NM_001355436.2(SPTB):c.5277C>T (p.Asp1759=)
|
rs73273601
|
0.00093
|
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn)
|
rs145675502
|
0.00068
|
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=)
|
rs146561732
|
0.00051
|
NM_001355436.2(SPTB):c.6345+317G>A
|
rs572325909
|
0.00051
|
NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His)
|
rs76283214
|
0.00048
|
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp)
|
rs189656371
|
0.00048
|
NM_001355436.2(SPTB):c.4563+11C>T
|
rs368290807
|
0.00046
|
NM_001355436.2(SPTB):c.2303G>A (p.Gly768Asp)
|
rs147712872
|
0.00043
|
NM_001355436.2(SPTB):c.4782C>T (p.Asp1594=)
|
rs138279396
|
0.00043
|
NM_001355436.2(SPTB):c.1303G>C (p.Glu435Gln)
|
rs149521594
|
0.00041
|
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)
|
rs138437526
|
0.00034
|
NM_001355436.2(SPTB):c.96T>C (p.Asn32=)
|
rs141340359
|
0.00034
|
NM_001355436.2(SPTB):c.1048G>A (p.Val350Met)
|
rs141973081
|
0.00030
|
NM_001355436.2(SPTB):c.1577C>T (p.Thr526Ile)
|
rs145315673
|
0.00027
|
NM_001355436.2(SPTB):c.773C>T (p.Thr258Met)
|
rs138841945
|
0.00022
|
NM_001355436.2(SPTB):c.947C>T (p.Thr316Ile)
|
rs146651264
|
0.00015
|
NM_001355436.2(SPTB):c.2116C>T (p.Arg706Cys)
|
rs184962510
|
0.00014
|
NM_001355436.2(SPTB):c.2250C>T (p.Gly750=)
|
rs200908449
|
0.00014
|
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=)
|
rs75000411
|
0.00013
|
NM_001355436.2(SPTB):c.3103C>T (p.Arg1035Trp)
|
rs143827332
|
0.00011
|
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val)
|
rs200876438
|
0.00011
|
NM_001355436.2(SPTB):c.5467G>A (p.Asp1823Asn)
|
rs200508249
|
0.00011
|
NM_001355436.2(SPTB):c.4973+4C>T
|
rs758611621
|
0.00010
|
NM_001355436.2(SPTB):c.2979C>G (p.Ile993Met)
|
rs764571605
|
0.00009
|
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln)
|
rs141173028
|
0.00009
|
NM_001355436.2(SPTB):c.1493G>A (p.Arg498His)
|
rs140796444
|
0.00008
|
NM_001355436.2(SPTB):c.3624G>A (p.Arg1208=)
|
rs200385949
|
0.00008
|
NM_001355436.2(SPTB):c.3780C>T (p.Asn1260=)
|
rs191583247
|
0.00008
|
NM_001355436.2(SPTB):c.2149C>T (p.Arg717Cys)
|
rs538347576
|
0.00007
|
NM_001355436.2(SPTB):c.6236G>A (p.Arg2079His)
|
rs200787781
|
0.00007
|
NM_001355436.2(SPTB):c.1328G>A (p.Arg443His)
|
rs752079707
|
0.00006
|
NM_001355436.2(SPTB):c.1342G>A (p.Asp448Asn)
|
rs150698819
|
0.00006
|
NM_001355436.2(SPTB):c.221G>A (p.Arg74His)
|
rs757763783
|
0.00006
|
NM_001355436.2(SPTB):c.5928C>G (p.Ala1976=)
|
rs375654121
|
0.00005
|
NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser)
|
rs375478086
|
0.00004
|
NM_001355436.2(SPTB):c.646C>T (p.Arg216Trp)
|
rs764534275
|
0.00004
|
NM_001355436.2(SPTB):c.1286G>A (p.Arg429Gln)
|
rs780179918
|
0.00003
|
NM_001355436.2(SPTB):c.2441G>A (p.Arg814Gln)
|
rs144219025
|
0.00003
|
NM_001355436.2(SPTB):c.3091G>T (p.Asp1031Tyr)
|
rs1047765
|
0.00003
|
NM_001355436.2(SPTB):c.3855+7C>A
|
rs774462377
|
0.00003
|
NM_001355436.2(SPTB):c.5294C>T (p.Ala1765Val)
|
rs756366285
|
0.00003
|
NM_001355436.2(SPTB):c.5456A>T (p.Glu1819Val)
|
rs201267737
|
0.00003
|
NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys)
|
rs764560431
|
0.00003
|
NM_000037.4(ANK1):c.1286C>T (p.Ser429Leu)
|
rs770353869
|
0.00002
|
NM_000037.4(ANK1):c.4721C>T (p.Thr1574Met)
|
rs372106603
|
0.00002
|
NM_001355436.2(SPTB):c.1504C>T (p.Arg502Cys)
|
rs755636829
|
0.00002
|
NM_001355436.2(SPTB):c.2108T>C (p.Met703Thr)
|
rs755434241
|
0.00002
|
NM_001355436.2(SPTB):c.3311C>G (p.Ala1104Gly)
|
rs374648585
|
0.00002
|
NM_001355436.2(SPTB):c.6345+203C>T
|
rs886050611
|
0.00002
|
NM_000037.4(ANK1):c.4047C>T (p.Tyr1349=)
|
rs201860615
|
0.00001
|
NM_000342.4(SLC4A1):c.1431+13T>G
|
rs747632229
|
0.00001
|
NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val)
|
rs886052997
|
0.00001
|
NM_001355436.2(SPTB):c.1796G>A (p.Gly599Glu)
|
rs886050623
|
0.00001
|
NM_001355436.2(SPTB):c.1866G>A (p.Leu622=)
|
rs746055042
|
0.00001
|
NM_001355436.2(SPTB):c.18G>C (p.Glu6Asp)
|
rs753928319
|
0.00001
|
NM_001355436.2(SPTB):c.2005C>T (p.Leu669=)
|
rs886050622
|
0.00001
|
NM_001355436.2(SPTB):c.4076G>A (p.Arg1359Gln)
|
rs199780681
|
0.00001
|
NM_001355436.2(SPTB):c.4564-7G>A
|
rs766420023
|
0.00001
|
NM_001355436.2(SPTB):c.5319C>T (p.Asp1773=)
|
rs767020547
|
0.00001
|
NM_001355436.2(SPTB):c.5439C>T (p.Ile1813=)
|
rs774241447
|
0.00001
|
NM_001355436.2(SPTB):c.5775G>T (p.Gln1925His)
|
rs773780733
|
0.00001
|
NM_001355436.2(SPTB):c.6269+7G>T
|
rs886050612
|
0.00001
|
NM_001355436.2(SPTB):c.6324G>A (p.Ala2108=)
|
rs756164746
|
0.00001
|
NM_000037.4(ANK1):c.*385del
|
rs112209933
|
|
NM_000037.4(ANK1):c.*484dup
|
rs5891167
|
|
NM_000037.4(ANK1):c.*637AC[11]
|
rs3063734
|
|
NM_000037.4(ANK1):c.*637AC[13]
|
rs3063734
|
|
NM_000037.4(ANK1):c.*637AC[14]
|
rs3063734
|
|
NM_000037.4(ANK1):c.*714_*727dup
|
rs6150565
|
|
NM_000037.4(ANK1):c.*921TC[2]
|
rs886062935
|
|
NM_000037.4(ANK1):c.3512G>T (p.Arg1171Leu)
|
rs767553149
|
|
NM_000037.4(ANK1):c.704C>A (p.Thr235Lys)
|
rs778503475
|
|
NM_000342.4(SLC4A1):c.*1273del
|
rs768606768
|
|
NM_000342.4(SLC4A1):c.*1606_*1608dup
|
rs57466226
|
|
NM_000342.4(SLC4A1):c.*1608del
|
rs57466226
|
|
NM_000342.4(SLC4A1):c.*1608dup
|
rs57466226
|
|
NM_000342.4(SLC4A1):c.1637A>G (p.Asp546Gly)
|
rs886052998
|
|
NM_001355436.2(SPTB):c.1431G>A (p.Arg477=)
|
rs886050626
|
|
NM_001355436.2(SPTB):c.1561C>T (p.Arg521Cys)
|
rs886050625
|
|
NM_001355436.2(SPTB):c.1795+9A>C
|
rs886050624
|
|
NM_001355436.2(SPTB):c.2188G>A (p.Asp730Asn)
|
rs867858924
|
|
NM_001355436.2(SPTB):c.228C>G (p.Thr76=)
|
rs748108358
|
|
NM_001355436.2(SPTB):c.2419C>G (p.Gln807Glu)
|
rs886050621
|
|
NM_001355436.2(SPTB):c.2656G>T (p.Val886Leu)
|
rs146031194
|
|
NM_001355436.2(SPTB):c.3536A>G (p.Gln1179Arg)
|
rs886050620
|
|
NM_001355436.2(SPTB):c.4176C>T (p.Asn1392=)
|
rs886050619
|
|
NM_001355436.2(SPTB):c.4349G>T (p.Gly1450Val)
|
rs886050618
|
|
NM_001355436.2(SPTB):c.4563+12G>C
|
rs1741489
|
|
NM_001355436.2(SPTB):c.4606G>C (p.Asp1536His)
|
rs886050617
|
|
NM_001355436.2(SPTB):c.4651G>T (p.Asp1551Tyr)
|
rs760176952
|
|
NM_001355436.2(SPTB):c.4973+12C>T
|
rs886050616
|
|
NM_001355436.2(SPTB):c.5112G>T (p.Gln1704His)
|
rs886050615
|
|
NM_001355436.2(SPTB):c.5181T>C (p.Leu1727=)
|
rs886050614
|
|
NM_001355436.2(SPTB):c.5255C>G (p.Ala1752Gly)
|
rs772761835
|
|
NM_001355436.2(SPTB):c.5530G>C (p.Glu1844Gln)
|
rs886050613
|
|
NM_001355436.2(SPTB):c.6270-8_6270-6dup
|
rs528966701
|
|
NM_001355436.2(SPTB):c.6345+251G>A
|
rs543583423
|
|
NM_001355436.2(SPTB):c.940C>G (p.Leu314Val)
|
rs886050627
|
|