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.2107C>T (p.Arg703Cys)
|
rs201888856
|
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.1956C>G (p.Tyr652Ter)
|
rs772357412
|
0.00002
|
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)
|
rs1443751733
|
0.00002
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)
|
rs28937892
|
0.00001
|
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter)
|
rs104893879
|
0.00001
|
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)
|
rs145639028
|
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
|
NC_000004.11:g.(103790345_103806372)_(103813965_?)del
|
|
|
NM_001008388.4(CISD2):c.(104_304)-84_318+724del
|
|
|
NM_001008388.5(CISD2):c.103+1G>A
|
rs1578307302
|
|
NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln)
|
rs63749888
|
|
NM_006005.3(WFS1):c.1008_1018del (p.Thr337fs)
|
rs2109125157
|
|
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.1234_1237del (p.Val412fs)
|
rs763677869
|
|
NM_006005.3(WFS1):c.1243_1245del (p.Val415del)
|
rs863224265
|
|
NM_006005.3(WFS1):c.124del (p.Arg42fs)
|
rs1064796781
|
|
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.1385_1393del (p.Glu462_Thr464del)
|
rs1578609780
|
|
NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs)
|
rs727503745
|
|
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.1558C>T (p.Gln520Ter)
|
rs377544135
|
|
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter)
|
rs1038816435
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
NM_006005.3(WFS1):c.1829del (p.Leu610fs)
|
rs1578611240
|
|
NM_006005.3(WFS1):c.1838G>A (p.Trp613Ter)
|
rs762467865
|
|
NM_006005.3(WFS1):c.1936_1943del (p.Phe646fs)
|
rs71524374
|
|
NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter)
|
rs150465110
|
|
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.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val)
|
rs28937891
|
|
NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter)
|
rs760171298
|
|
NM_006005.3(WFS1):c.2205C>G (p.Tyr735Ter)
|
rs71530911
|
|
NM_006005.3(WFS1):c.2224dup (p.Cys742fs)
|
rs1578612324
|
|
NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter)
|
rs369107336
|
|
NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter)
|
rs104893881
|
|
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)
|
rs104893883
|
|
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.2648_2651del (p.Phe883fs)
|
rs797045076
|
|
NM_006005.3(WFS1):c.2663C>A (p.Ser888Ter)
|
rs547089139
|
|
NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter)
|
rs1553876668
|
|
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.578dup (p.Gln194fs)
|
rs779272128
|
|
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly)
|
rs1064794257
|
|
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter)
|
rs104893880
|
|
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)
|
rs142428158
|
|
NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter)
|
rs777580652
|
|
NM_006005.3(WFS1):c.[2119G>T;2649del]
|
|
|