NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln)
|
rs140159323
|
0.00019
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys)
|
rs148953711
|
0.00005
|
NM_006005.3(WFS1):c.631G>A (p.Asp211Asn)
|
rs138682654
|
0.00004
|
NM_003380.5(VIM):c.451G>A (p.Glu151Lys)
|
rs121917775
|
0.00003
|
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)
|
rs143064649
|
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.2254G>T (p.Glu752Ter)
|
rs201239579
|
0.00002
|
NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter)
|
rs387906964
|
0.00002
|
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)
|
rs387907338
|
0.00001
|
NM_001289808.2(CRYAB):c.343del (p.Ser115fs)
|
rs281865142
|
0.00001
|
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)
|
rs28937892
|
0.00001
|
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter)
|
rs747658523
|
0.00001
|
NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter)
|
rs768945306
|
0.00001
|
NM_024513.4(FYCO1):c.3150+1G>T
|
rs766522434
|
0.00001
|
NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn)
|
rs387907336
|
|
NM_001289808.2(CRYAB):c.450del (p.Lys150fs)
|
rs1566402656
|
|
NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser)
|
rs387907337
|
|
NM_003380.5(VIM):c.15del (p.Val6fs)
|
rs864309690
|
|
NM_003380.5(VIM):c.623A>G (p.Gln208Arg)
|
rs1085307141
|
|
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.1355_1370del (p.Glu452fs)
|
|
|
NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly)
|
rs398123066
|
|
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del)
|
rs781262017
|
|
NM_006005.3(WFS1):c.1549del (p.Arg517fs)
|
rs2109126109
|
|
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter)
|
rs377544135
|
|
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs)
|
rs1730930342
|
|
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.817G>T (p.Glu273Ter)
|
rs142428158
|
|
NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter)
|
rs387906963
|
|
NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter)
|
rs387906966
|
|
NM_024513.4(FYCO1):c.2345del (p.Gln782fs)
|
|
|
NM_024513.4(FYCO1):c.2386C>T (p.Gln796Ter)
|
|
|
NM_024513.4(FYCO1):c.2505del (p.Ala836fs)
|
rs1575369255
|
|
NM_024513.4(FYCO1):c.265_267delinsTGA (p.Arg89Ter)
|
|
|
NM_024513.4(FYCO1):c.3161del (p.Ala1054fs)
|
rs2125846016
|
|
NM_024513.4(FYCO1):c.3322A>T (p.Lys1108Ter)
|
rs73830668
|
|
NM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs)
|
rs747093432
|
|
NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs)
|
rs1240503246
|
|
NM_024513.4(FYCO1):c.3861del (p.Glu1287fs)
|
rs777269054
|
|
NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro)
|
rs387906965
|
|
NM_024513.4(FYCO1):c.524G>A (p.Trp175Ter)
|
rs2125859216
|
|
NM_024513.4(FYCO1):c.528_529insGGCAAAGT (p.Thr177fs)
|
rs2125859204
|
|
NM_024513.4(FYCO1):c.575G>A (p.Trp192Ter)
|
rs200679450
|
|