NM_006005.3(WFS1):c.461-9A>G
|
rs10010131
|
0.63169
|
NM_006005.3(WFS1):c.713-1075C>G
|
rs6446482
|
0.62564
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu)
|
rs28937890
|
0.00007
|
NM_006005.3(WFS1):c.1836G>A (p.Trp612Ter)
|
rs775158434
|
0.00006
|
NM_006005.3(WFS1):c.977C>T (p.Ala326Val)
|
rs369795224
|
0.00006
|
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)
|
rs774265764
|
0.00005
|
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys)
|
rs148953711
|
0.00005
|
NM_006005.3(WFS1):c.2107C>T (p.Arg703Cys)
|
rs201888856
|
0.00004
|
NM_006005.3(WFS1):c.631G>A (p.Asp211Asn)
|
rs138682654
|
0.00004
|
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)
|
rs143064649
|
0.00003
|
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser)
|
rs71532864
|
0.00003
|
NM_006005.3(WFS1):c.1885C>T (p.Arg629Trp)
|
rs71530910
|
0.00002
|
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter)
|
rs772357412
|
0.00002
|
NM_006005.3(WFS1):c.2002C>T (p.Gln668Ter)
|
rs1335308693
|
0.00002
|
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)
|
rs1443751733
|
0.00002
|
NM_006005.3(WFS1):c.2104G>A (p.Gly702Ser)
|
rs71532862
|
0.00002
|
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter)
|
rs201239579
|
0.00002
|
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln)
|
rs121912618
|
0.00002
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile)
|
rs781575919
|
0.00001
|
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter)
|
rs761320763
|
0.00001
|
NM_006005.3(WFS1):c.1433G>A (p.Trp478Ter)
|
rs377726402
|
0.00001
|
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)
|
rs28937892
|
0.00001
|
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter)
|
rs1335076773
|
0.00001
|
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter)
|
rs104893879
|
0.00001
|
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)
|
rs771409809
|
0.00001
|
NM_006005.3(WFS1):c.2005T>C (p.Tyr669His)
|
rs1730934090
|
0.00001
|
NM_006005.3(WFS1):c.2050G>A (p.Ala684Thr)
|
rs1412819148
|
0.00001
|
NM_006005.3(WFS1):c.2051C>G (p.Ala684Gly)
|
rs387906930
|
0.00001
|
NM_006005.3(WFS1):c.2170C>T (p.Pro724Ser)
|
rs777663097
|
0.00001
|
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys)
|
rs71526458
|
0.00001
|
NM_006005.3(WFS1):c.2416G>C (p.Ala806Pro)
|
rs762075088
|
0.00001
|
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp)
|
rs28937895
|
0.00001
|
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)
|
rs145639028
|
0.00001
|
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr)
|
rs372249044
|
0.00001
|
NM_006005.3(WFS1):c.712+1G>T
|
rs1281745640
|
0.00001
|
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter)
|
rs747658523
|
0.00001
|
NM_006005.3(WFS1):c.862-1G>A
|
rs1487715574
|
0.00001
|
NC_000004.11:g.(?_6279183)_(6279434_?)del
|
|
|
NM_006005.3(WFS1):c.1008_1018del (p.Thr337fs)
|
rs2109125157
|
|
NM_006005.3(WFS1):c.1060_1062del (p.Phe354del)
|
rs876657735
|
|
NM_006005.3(WFS1):c.1088dup (p.Val364fs)
|
|
|
NM_006005.3(WFS1):c.1107_1108insA (p.Ala370fs)
|
rs2109125327
|
|
NM_006005.3(WFS1):c.1112G>A (p.Trp371Ter)
|
|
|
NM_006005.3(WFS1):c.1180G>T (p.Glu394Ter)
|
rs373146435
|
|
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs)
|
rs760337383
|
|
NM_006005.3(WFS1):c.1232_1233del (p.Ser411fs)
|
|
|
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs)
|
rs763677869
|
|
NM_006005.3(WFS1):c.1237TTC[1] (p.Phe414del)
|
rs797046112
|
|
NM_006005.3(WFS1):c.1243_1245del (p.Val415del)
|
rs863224265
|
|
NM_006005.3(WFS1):c.124del (p.Arg42fs)
|
rs1064796781
|
|
NM_006005.3(WFS1):c.1289C>A (p.Ser430Ter)
|
|
|
NM_006005.3(WFS1):c.1313dup (p.Phe439fs)
|
|
|
NM_006005.3(WFS1):c.1362C>G (p.Tyr454Ter)
|
rs1043668392
|
|
NM_006005.3(WFS1):c.1362_1377del (p.Pro453_Tyr454insTer)
|
rs1730884546
|
|
NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly)
|
rs398123066
|
|
NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del)
|
rs1578609780
|
|
NM_006005.3(WFS1):c.13dup (p.Thr5fs)
|
|
|
NM_006005.3(WFS1):c.1401_1403del (p.Leu468del)
|
rs2109125846
|
|
NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs)
|
rs727503745
|
|
NM_006005.3(WFS1):c.1456C>T (p.Gln486Ter)
|
|
|
NM_006005.3(WFS1):c.1514G>A (p.Cys505Tyr)
|
rs1445355190
|
|
NM_006005.3(WFS1):c.1523_1524del (p.Tyr508fs)
|
|
|
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del)
|
rs781262017
|
|
NM_006005.3(WFS1):c.1529_1543del (p.Tyr510_Leu514del)
|
|
|
NM_006005.3(WFS1):c.1530C>G (p.Tyr510Ter)
|
|
|
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del)
|
rs777904670
|
|
NM_006005.3(WFS1):c.1549del (p.Arg517fs)
|
rs2109126109
|
|
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter)
|
rs377544135
|
|
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer)
|
rs1560419631
|
|
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter)
|
rs1038816435
|
|
NM_006005.3(WFS1):c.1628T>G (p.Leu543Arg)
|
|
|
NM_006005.3(WFS1):c.1661_1687del (p.Leu554_Tyr563delinsHis)
|
|
|
NM_006005.3(WFS1):c.1670_1671insA (p.Arg558fs)
|
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
NM_006005.3(WFS1):c.1820C>G (p.Pro607Arg)
|
rs373862003
|
|
NM_006005.3(WFS1):c.1829del (p.Leu610fs)
|
rs1578611240
|
|
NM_006005.3(WFS1):c.1838G>A (p.Trp613Ter)
|
rs762467865
|
|
NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr)
|
rs104893882
|
|
NM_006005.3(WFS1):c.1936_1943del (p.Phe646fs)
|
rs71524374
|
|
NM_006005.3(WFS1):c.1941C>A (p.Cys647Ter)
|
|
|
NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter)
|
rs150465110
|
|
NM_006005.3(WFS1):c.1948T>C (p.Tyr650His)
|
|
|
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs)
|
rs1730930342
|
|
NM_006005.3(WFS1):c.1961C>G (p.Ser654Ter)
|
rs1189512943
|
|
NM_006005.3(WFS1):c.1991T>G (p.Leu664Arg)
|
|
|
NM_006005.3(WFS1):c.2015T>C (p.Leu672Pro)
|
rs1222900668
|
|
NM_006005.3(WFS1):c.2021G>A (p.Gly674Glu)
|
|
|
NM_006005.3(WFS1):c.2026_2027insA (p.Arg676fs)
|
rs2109126894
|
|
NM_006005.3(WFS1):c.2033G>A (p.Trp678Ter)
|
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_006005.3(WFS1):c.2054G>C (p.Arg685Pro)
|
rs142668478
|
|
NM_006005.3(WFS1):c.2080_2105del (p.Glu694fs)
|
|
|
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val)
|
rs28937891
|
|
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met)
|
rs28937894
|
|
NM_006005.3(WFS1):c.2099G>A (p.Trp700Ter)
|
rs372114182
|
|
NM_006005.3(WFS1):c.2103del (p.Gly702fs)
|
|
|
NM_006005.3(WFS1):c.2115G>C (p.Lys705Asn)
|
rs2109127018
|
|
NM_006005.3(WFS1):c.2141A>C (p.Asn714Thr)
|
rs397517196
|
|
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr)
|
rs28937893
|
|
NM_006005.3(WFS1):c.2168T>C (p.Leu723Pro)
|
|
|
NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter)
|
rs760171298
|
|
NM_006005.3(WFS1):c.2195_2217dup (p.Pro740fs)
|
|
|
NM_006005.3(WFS1):c.2205C>G (p.Tyr735Ter)
|
rs71530911
|
|
NM_006005.3(WFS1):c.2206G>C (p.Gly736Arg)
|
|
|
NM_006005.3(WFS1):c.2224dup (p.Cys742fs)
|
rs1578612324
|
|
NM_006005.3(WFS1):c.2311G>C (p.Asp771His)
|
rs534067035
|
|
NM_006005.3(WFS1):c.2314_2315insT (p.Arg772fs)
|
|
|
NM_006005.3(WFS1):c.2338G>A (p.Gly780Ser)
|
rs387906931
|
|
NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter)
|
rs369107336
|
|
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn)
|
rs1553879004
|
|
NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys)
|
rs71539673
|
|
NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter)
|
rs104893881
|
|
NM_006005.3(WFS1):c.2455_2502del (p.Gln819_Gly834del)
|
|
|
NM_006005.3(WFS1):c.2477G>A (p.Ser826Asn)
|
rs1730968028
|
|
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)
|
rs104893883
|
|
NM_006005.3(WFS1):c.2508G>C (p.Lys836Asn)
|
rs876657675
|
|
NM_006005.3(WFS1):c.2536_2539dup (p.Cys847Ter)
|
|
|
NM_006005.3(WFS1):c.2552_2553dup (p.Ala852fs)
|
|
|
NM_006005.3(WFS1):c.2585_2587del (p.Lys862del)
|
|
|
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)
|
rs74315205
|
|
NM_006005.3(WFS1):c.2600G>A (p.Trp867Ter)
|
rs1553879087
|
|
NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del)
|
rs1272826809
|
|
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs)
|
rs863224268
|
|
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)
|
rs1560422383
|
|
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)
|
rs797045076
|
|
NM_006005.3(WFS1):c.2649del (p.Phe884fs)
|
|
|
NM_006005.3(WFS1):c.2663C>A (p.Ser888Ter)
|
rs547089139
|
|
NM_006005.3(WFS1):c.268G>T (p.Glu90Ter)
|
|
|
NM_006005.3(WFS1):c.316-2A>G
|
|
|
NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter)
|
rs1553876668
|
|
NM_006005.3(WFS1):c.334C>T (p.Gln112Ter)
|
|
|
NM_006005.3(WFS1):c.386_398del (p.Trp129fs)
|
|
|
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter)
|
rs764993824
|
|
NM_006005.3(WFS1):c.409_424dup (p.Val142fs)
|
rs1362648752
|
|
NM_006005.3(WFS1):c.439del (p.Arg147fs)
|
rs1560408865
|
|
NM_006005.3(WFS1):c.460+1G>A
|
rs1191510461
|
|
NM_006005.3(WFS1):c.460+1G>C
|
|
|
NM_006005.3(WFS1):c.559C>T (p.Leu187Phe)
|
|
|
NM_006005.3(WFS1):c.578dup (p.Gln194fs)
|
rs779272128
|
|
NM_006005.3(WFS1):c.57_64dup (p.Gln22fs)
|
|
|
NM_006005.3(WFS1):c.58C>T (p.Gln20Ter)
|
|
|
NM_006005.3(WFS1):c.599del (p.Leu200fs)
|
|
|
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly)
|
rs1064794257
|
|
NM_006005.3(WFS1):c.631+2T>G
|
rs543866098
|
|
NM_006005.3(WFS1):c.643C>T (p.Gln215Ter)
|
|
|
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter)
|
rs104893880
|
|
NM_006005.3(WFS1):c.757A>T (p.Lys253Ter)
|
|
|
NM_006005.3(WFS1):c.784del (p.Ser262fs)
|
|
|
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)
|
rs142428158
|
|
NM_006005.3(WFS1):c.861+2T>C
|
rs1730600472
|
|
NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter)
|
rs777580652
|
|
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer)
|
rs863224264
|
|
NM_006005.3(WFS1):c.937C>T (p.His313Tyr)
|
rs886044563
|
|
NM_006005.3(WFS1):c.940T>C (p.Trp314Arg)
|
rs2109125046
|
|
NM_006005.3(WFS1):c.958_961delinsTCC (p.Pro320fs)
|
|
|
NM_006005.3(WFS1):c.960del (p.Thr321fs)
|
|
|
NM_006005.3(WFS1):c.968A>G (p.His323Arg)
|
rs1057368575
|
|
NM_006005.3(WFS1):c.9dup (p.Asn4fs)
|
rs2109107823
|
|
NM_006005.3(WFS1):c.[2119G>T;2649del]
|
|
|