NM_001289808.2(CRYAB):c.324+4T>G
|
rs11603779
|
0.26871
|
NM_001885.3(CRYAB):c.-198-51C>G
|
rs14133
|
0.26751
|
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=)
|
rs2228387
|
0.01303
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)
|
rs149787233
|
0.00020
|
NM_001289808.2(CRYAB):c.202-16A>G
|
rs781953322
|
0.00012
|
NM_001289808.2(CRYAB):c.120G>A (p.Thr40=)
|
rs374981255
|
0.00006
|
NM_001289808.2(CRYAB):c.216G>A (p.Lys72=)
|
rs561116151
|
0.00006
|
NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr)
|
rs1349139935
|
0.00006
|
NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp)
|
rs534473091
|
0.00005
|
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His)
|
rs141638421
|
0.00005
|
NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg)
|
rs1256600488
|
0.00004
|
NM_001289808.2(CRYAB):c.32G>A (p.Arg11His)
|
rs782809283
|
0.00004
|
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=)
|
rs4252582
|
0.00004
|
NM_001289808.2(CRYAB):c.9C>T (p.Ile3=)
|
rs1555165618
|
0.00004
|
NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala)
|
rs145768025
|
0.00003
|
NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met)
|
rs782122417
|
0.00003
|
NM_001289808.2(CRYAB):c.201+14C>G
|
rs782207762
|
0.00003
|
NM_001289808.2(CRYAB):c.277G>T (p.Val93Leu)
|
rs547282752
|
0.00003
|
NM_001289808.2(CRYAB):c.31C>T (p.Arg11Cys)
|
rs781902168
|
0.00003
|
NM_001289808.2(CRYAB):c.368G>A (p.Arg123Gln)
|
rs782206421
|
0.00003
|
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile)
|
rs397516686
|
0.00003
|
NM_001289808.2(CRYAB):c.469C>T (p.Arg157Cys)
|
rs374169381
|
0.00003
|
NM_001289808.2(CRYAB):c.65G>A (p.Arg22His)
|
rs782316391
|
0.00003
|
NM_001289808.2(CRYAB):c.126T>G (p.Thr42=)
|
rs781882384
|
0.00002
|
NM_001289808.2(CRYAB):c.174C>A (p.Pro58=)
|
rs782151852
|
0.00002
|
NM_001289808.2(CRYAB):c.202A>T (p.Met68Leu)
|
rs1291858452
|
0.00002
|
NM_001289808.2(CRYAB):c.301C>A (p.His101Asn)
|
rs1029108489
|
0.00002
|
NM_001289808.2(CRYAB):c.325-2A>G
|
rs202024436
|
0.00002
|
NM_001289808.2(CRYAB):c.34C>T (p.Arg12Cys)
|
rs375933774
|
0.00002
|
NM_001289808.2(CRYAB):c.369G>T (p.Arg123=)
|
rs1274021536
|
0.00002
|
NM_001289808.2(CRYAB):c.373C>T (p.Pro125Ser)
|
rs374661019
|
0.00002
|
NM_001289808.2(CRYAB):c.487C>T (p.Arg163Cys)
|
rs186242388
|
0.00002
|
NM_001289808.2(CRYAB):c.504T>C (p.Ala168=)
|
rs782361571
|
0.00002
|
NM_001289808.2(CRYAB):c.516C>A (p.Ala172=)
|
rs143500486
|
0.00002
|
NM_001289808.2(CRYAB):c.85G>C (p.Gly29Arg)
|
rs148500053
|
0.00002
|
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp)
|
rs886047688
|
0.00001
|
NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr)
|
rs1264081192
|
0.00001
|
NM_001289808.2(CRYAB):c.112T>C (p.Phe38Leu)
|
rs1237590699
|
0.00001
|
NM_001289808.2(CRYAB):c.117G>A (p.Pro39=)
|
rs782481381
|
0.00001
|
NM_001289808.2(CRYAB):c.127T>G (p.Ser43Ala)
|
rs1359865460
|
0.00001
|
NM_001289808.2(CRYAB):c.133A>G (p.Ser45Gly)
|
rs1450798906
|
0.00001
|
NM_001289808.2(CRYAB):c.134G>A (p.Ser45Asn)
|
rs931730154
|
0.00001
|
NM_001289808.2(CRYAB):c.148C>T (p.Arg50Trp)
|
rs1555165555
|
0.00001
|
NM_001289808.2(CRYAB):c.149G>A (p.Arg50Gln)
|
rs781846534
|
0.00001
|
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)
|
rs387907338
|
0.00001
|
NM_001289808.2(CRYAB):c.206G>A (p.Arg69His)
|
rs987496548
|
0.00001
|
NM_001289808.2(CRYAB):c.20A>G (p.His7Arg)
|
rs1467726434
|
0.00001
|
NM_001289808.2(CRYAB):c.24C>T (p.Pro8=)
|
rs1178917337
|
0.00001
|
NM_001289808.2(CRYAB):c.2T>C (p.Met1Thr)
|
rs577253222
|
0.00001
|
NM_001289808.2(CRYAB):c.324+3A>G
|
rs1057520897
|
0.00001
|
NM_001289808.2(CRYAB):c.324G>C (p.Gln108His)
|
rs886039099
|
0.00001
|
NM_001289808.2(CRYAB):c.325-6G>T
|
rs376641676
|
0.00001
|
NM_001289808.2(CRYAB):c.325-9T>C
|
rs1555165263
|
0.00001
|
NM_001289808.2(CRYAB):c.333T>C (p.His111=)
|
rs982609751
|
0.00001
|
NM_001289808.2(CRYAB):c.343del (p.Ser115fs)
|
rs281865142
|
0.00001
|
NM_001289808.2(CRYAB):c.35G>A (p.Arg12His)
|
rs930811941
|
0.00001
|
NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg)
|
rs781915800
|
0.00001
|
NM_001289808.2(CRYAB):c.38C>T (p.Pro13Leu)
|
rs1461109639
|
0.00001
|
NM_001289808.2(CRYAB):c.406T>A (p.Ser136Thr)
|
rs371079119
|
0.00001
|
NM_001289808.2(CRYAB):c.427C>T (p.Leu143Phe)
|
rs782629197
|
0.00001
|
NM_001289808.2(CRYAB):c.461G>A (p.Gly154Asp)
|
rs1555165228
|
0.00001
|
NM_001289808.2(CRYAB):c.471C>T (p.Arg157=)
|
rs373551429
|
0.00001
|
NM_001289808.2(CRYAB):c.485C>T (p.Thr162Ile)
|
rs199861008
|
0.00001
|
NM_001289808.2(CRYAB):c.488G>A (p.Arg163His)
|
rs782207078
|
0.00001
|
NM_001289808.2(CRYAB):c.511G>A (p.Ala171Thr)
|
rs370803064
|
0.00001
|
NM_001289808.2(CRYAB):c.52C>T (p.His18Tyr)
|
rs373032047
|
0.00001
|
NM_001289808.2(CRYAB):c.84C>T (p.Phe28=)
|
rs1555165581
|
0.00001
|
NC_000011.10:g.(?_111908754)_(111908977_?)del
|
|
|
NC_000011.9:g.(?_111779478)_(111782458_?)del
|
|
|
NC_000011.9:g.(?_111779478)_(111782458_?)dup
|
|
|
NC_000011.9:g.(?_111779488)_(111780026_?)del
|
|
|
NC_000011.9:g.(?_111779488)_(111782448_?)del
|
|
|
NM_001289808.2(CRYAB):c.104C>T (p.Ser35Phe)
|
rs1555165569
|
|
NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser)
|
rs145768025
|
|
NM_001289808.2(CRYAB):c.116C>A (p.Pro39Gln)
|
rs149787233
|
|
NM_001289808.2(CRYAB):c.117G>T (p.Pro39=)
|
|
|
NM_001289808.2(CRYAB):c.12C>T (p.Ala4=)
|
|
|
NM_001289808.2(CRYAB):c.130C>T (p.Leu44=)
|
rs782720245
|
|
NM_001289808.2(CRYAB):c.131T>C (p.Leu44Pro)
|
rs1965457564
|
|
NM_001289808.2(CRYAB):c.135T>C (p.Ser45=)
|
rs1355387914
|
|
NM_001289808.2(CRYAB):c.145del (p.Leu49fs)
|
rs1965456387
|
|
NM_001289808.2(CRYAB):c.149_163del (p.Arg50_Phe54del)
|
|
|
NM_001289808.2(CRYAB):c.153A>G (p.Pro51=)
|
|
|
NM_001289808.2(CRYAB):c.166C>A (p.Arg56=)
|
rs387907338
|
|
NM_001289808.2(CRYAB):c.16C>T (p.His6Tyr)
|
rs794728982
|
|
NM_001289808.2(CRYAB):c.171A>C (p.Ala57=)
|
|
|
NM_001289808.2(CRYAB):c.173C>A (p.Pro58His)
|
|
|
NM_001289808.2(CRYAB):c.173C>T (p.Pro58Leu)
|
|
|
NM_001289808.2(CRYAB):c.17A>T (p.His6Leu)
|
rs1002278304
|
|
NM_001289808.2(CRYAB):c.187A>G (p.Thr63Ala)
|
rs375886627
|
|
NM_001289808.2(CRYAB):c.191G>A (p.Gly64Glu)
|
|
|
NM_001289808.2(CRYAB):c.193C>A (p.Leu65Ile)
|
|
|
NM_001289808.2(CRYAB):c.195C>T (p.Leu65=)
|
|
|
NM_001289808.2(CRYAB):c.198A>G (p.Ser66=)
|
rs143101974
|
|
NM_001289808.2(CRYAB):c.201+10C>G
|
rs2137384200
|
|
NM_001289808.2(CRYAB):c.201+11C>A
|
|
|
NM_001289808.2(CRYAB):c.201+13A>C
|
|
|
NM_001289808.2(CRYAB):c.201+17C>G
|
rs782366958
|
|
NM_001289808.2(CRYAB):c.201+17C>T
|
rs782366958
|
|
NM_001289808.2(CRYAB):c.201+2_201+3dup
|
|
|
NM_001289808.2(CRYAB):c.201+5G>A
|
|
|
NM_001289808.2(CRYAB):c.201+5G>C
|
rs1555165537
|
|
NM_001289808.2(CRYAB):c.201G>A (p.Glu67=)
|
rs1965452797
|
|
NM_001289808.2(CRYAB):c.202-18T>C
|
rs1057522206
|
|
NM_001289808.2(CRYAB):c.202-8A>G
|
|
|
NM_001289808.2(CRYAB):c.202-9_214dup
|
rs2137382055
|
|
NM_001289808.2(CRYAB):c.205C>A (p.Arg69Ser)
|
rs139750142
|
|
NM_001289808.2(CRYAB):c.205C>T (p.Arg69Cys)
|
rs139750142
|
|
NM_001289808.2(CRYAB):c.206G>T (p.Arg69Leu)
|
rs987496548
|
|
NM_001289808.2(CRYAB):c.215A>T (p.Lys72Met)
|
|
|
NM_001289808.2(CRYAB):c.219C>T (p.Asp73=)
|
rs1555165414
|
|
NM_001289808.2(CRYAB):c.21C>G (p.His7Gln)
|
rs1555165608
|
|
NM_001289808.2(CRYAB):c.220A>C (p.Arg74=)
|
rs781913291
|
|
NM_001289808.2(CRYAB):c.220A>G (p.Arg74Gly)
|
rs781913291
|
|
NM_001289808.2(CRYAB):c.222G>C (p.Arg74Ser)
|
|
|
NM_001289808.2(CRYAB):c.22C>T (p.Pro8Ser)
|
rs782654756
|
|
NM_001289808.2(CRYAB):c.246_248del (p.Lys82_His83delinsAsn)
|
|
|
NM_001289808.2(CRYAB):c.247C>G (p.His83Asp)
|
rs1965416729
|
|
NM_001289808.2(CRYAB):c.267C>T (p.Leu89=)
|
rs2137381927
|
|
NM_001289808.2(CRYAB):c.268A>G (p.Lys90Glu)
|
|
|
NM_001289808.2(CRYAB):c.269A>G (p.Lys90Arg)
|
|
|
NM_001289808.2(CRYAB):c.277G>C (p.Val93Leu)
|
rs547282752
|
|
NM_001289808.2(CRYAB):c.279G>A (p.Val93=)
|
|
|
NM_001289808.2(CRYAB):c.280T>C (p.Leu94=)
|
|
|
NM_001289808.2(CRYAB):c.282G>A (p.Leu94=)
|
|
|
NM_001289808.2(CRYAB):c.287A>G (p.Asp96Gly)
|
rs553865461
|
|
NM_001289808.2(CRYAB):c.290T>A (p.Val97Glu)
|
|
|
NM_001289808.2(CRYAB):c.295G>T (p.Glu99Ter)
|
rs1965414571
|
|
NM_001289808.2(CRYAB):c.300G>A (p.Val100=)
|
|
|
NM_001289808.2(CRYAB):c.302A>T (p.His101Leu)
|
rs1965414373
|
|
NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys)
|
rs782520163
|
|
NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly)
|
rs781902168
|
|
NM_001289808.2(CRYAB):c.320G>A (p.Arg107His)
|
|
|
NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu)
|
rs144451841
|
|
NM_001289808.2(CRYAB):c.324+10T>C
|
|
|
NM_001289808.2(CRYAB):c.324+11T>C
|
rs2137381677
|
|
NM_001289808.2(CRYAB):c.324+13T>G
|
rs370222107
|
|
NM_001289808.2(CRYAB):c.324+13dup
|
rs782303631
|
|
NM_001289808.2(CRYAB):c.324+19T>G
|
|
|
NM_001289808.2(CRYAB):c.324+19del
|
|
|
NM_001289808.2(CRYAB):c.324+3_324+4delinsGG
|
rs2137381725
|
|
NM_001289808.2(CRYAB):c.324+4T>A
|
rs11603779
|
|
NM_001289808.2(CRYAB):c.324+4_324+5delinsGA
|
rs1555165393
|
|
NM_001289808.2(CRYAB):c.324+4_324+5delinsGT
|
rs1555165393
|
|
NM_001289808.2(CRYAB):c.324+5G>T
|
|
|
NM_001289808.2(CRYAB):c.325-5G>T
|
|
|
NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly)
|
rs1114167341
|
|
NM_001289808.2(CRYAB):c.33C>T (p.Arg11=)
|
rs782430984
|
|
NM_001289808.2(CRYAB):c.352T>G (p.Phe118Val)
|
|
|
NM_001289808.2(CRYAB):c.353T>C (p.Phe118Ser)
|
rs876657766
|
|
NM_001289808.2(CRYAB):c.35G>T (p.Arg12Leu)
|
|
|
NM_001289808.2(CRYAB):c.362A>C (p.Lys121Thr)
|
rs781915800
|
|
NM_001289808.2(CRYAB):c.373C>G (p.Pro125Ala)
|
rs374661019
|
|
NM_001289808.2(CRYAB):c.375A>C (p.Pro125=)
|
rs886047687
|
|
NM_001289808.2(CRYAB):c.376del (p.Ala126fs)
|
rs2137378811
|
|
NM_001289808.2(CRYAB):c.381T>G (p.Asp127Glu)
|
rs1286547434
|
|
NM_001289808.2(CRYAB):c.386A>G (p.Asp129Gly)
|
|
|
NM_001289808.2(CRYAB):c.395C>T (p.Thr132Ile)
|
|
|
NM_001289808.2(CRYAB):c.397A>G (p.Ile133Val)
|
rs782672409
|
|
NM_001289808.2(CRYAB):c.401C>T (p.Thr134Ile)
|
rs2137378724
|
|
NM_001289808.2(CRYAB):c.408C>T (p.Ser136=)
|
rs1592506223
|
|
NM_001289808.2(CRYAB):c.40T>G (p.Phe14Val)
|
rs1555165595
|
|
NM_001289808.2(CRYAB):c.414A>G (p.Ser138=)
|
|
|
NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser)
|
rs1555165594
|
|
NM_001289808.2(CRYAB):c.423G>C (p.Gly141=)
|
rs781792556
|
|
NM_001289808.2(CRYAB):c.424G>T (p.Val142Phe)
|
rs1965359147
|
|
NM_001289808.2(CRYAB):c.427C>G (p.Leu143Val)
|
rs782629197
|
|
NM_001289808.2(CRYAB):c.429C>T (p.Leu143=)
|
|
|
NM_001289808.2(CRYAB):c.432T>G (p.Thr144=)
|
|
|
NM_001289808.2(CRYAB):c.433G>A (p.Val145Met)
|
|
|
NM_001289808.2(CRYAB):c.433G>C (p.Val145Leu)
|
rs781852612
|
|
NM_001289808.2(CRYAB):c.438T>C (p.Asn146=)
|
|
|
NM_001289808.2(CRYAB):c.440G>T (p.Gly147Val)
|
|
|
NM_001289808.2(CRYAB):c.451C>G (p.Gln151Glu)
|
|
|
NM_001289808.2(CRYAB):c.457T>G (p.Ser153Ala)
|
rs1160682106
|
|
NM_001289808.2(CRYAB):c.458C>T (p.Ser153Phe)
|
rs868980796
|
|
NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs)
|
rs1566402514
|
|
NM_001289808.2(CRYAB):c.465dup (p.Glu156Ter)
|
|
|
NM_001289808.2(CRYAB):c.471C>G (p.Arg157=)
|
rs373551429
|
|
NM_001289808.2(CRYAB):c.474C>A (p.Thr158=)
|
|
|
NM_001289808.2(CRYAB):c.476T>A (p.Ile159Asn)
|
rs782115863
|
|
NM_001289808.2(CRYAB):c.47C>T (p.Pro16Leu)
|
rs868946460
|
|
NM_001289808.2(CRYAB):c.480C>T (p.Pro160=)
|
rs782200096
|
|
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr)
|
rs1592506005
|
|
NM_001289808.2(CRYAB):c.496A>T (p.Lys166Ter)
|
|
|
NM_001289808.2(CRYAB):c.498G>A (p.Lys166=)
|
|
|
NM_001289808.2(CRYAB):c.499C>G (p.Pro167Ala)
|
rs1965354125
|
|
NM_001289808.2(CRYAB):c.499_505del (p.Pro167fs)
|
|
|
NM_001289808.2(CRYAB):c.503C>G (p.Ala168Gly)
|
rs2137378339
|
|
NM_001289808.2(CRYAB):c.510C>A (p.Thr170=)
|
rs147970333
|
|
NM_001289808.2(CRYAB):c.510C>T (p.Thr170=)
|
rs147970333
|
|
NM_001289808.2(CRYAB):c.511G>T (p.Ala171Ser)
|
|
|
NM_001289808.2(CRYAB):c.519C>T (p.Pro173=)
|
|
|
NM_001289808.2(CRYAB):c.522G>T (p.Lys174Asn)
|
rs1965352034
|
|
NM_001289808.2(CRYAB):c.524A>T (p.Lys175Ile)
|
rs1965351856
|
|
NM_001289808.2(CRYAB):c.56C>A (p.Ser19Tyr)
|
|
|
NM_001289808.2(CRYAB):c.56C>T (p.Ser19Phe)
|
rs537074990
|
|
NM_001289808.2(CRYAB):c.57C>G (p.Ser19=)
|
|
|
NM_001289808.2(CRYAB):c.60C>G (p.Pro20=)
|
|
|
NM_001289808.2(CRYAB):c.64C>T (p.Arg22Cys)
|
|
|
NM_001289808.2(CRYAB):c.66C>T (p.Arg22=)
|
rs1310997127
|
|
NM_001289808.2(CRYAB):c.76C>A (p.Gln26Lys)
|
rs1965461881
|
|
NM_001289808.2(CRYAB):c.76C>T (p.Gln26Ter)
|
rs1965461881
|
|
NM_001289808.2(CRYAB):c.78G>C (p.Gln26His)
|
|
|
NM_001289808.2(CRYAB):c.79TTC[1] (p.Phe28del)
|
|
|
NM_001289808.2(CRYAB):c.7A>G (p.Ile3Val)
|
|
|
NM_001289808.2(CRYAB):c.85G>A (p.Gly29Arg)
|
rs148500053
|
|
NM_001289808.2(CRYAB):c.86G>C (p.Gly29Ala)
|
rs1965460969
|
|
NM_001289808.2(CRYAB):c.88G>A (p.Glu30Lys)
|
|
|
NM_001289808.2(CRYAB):c.93C>T (p.His31=)
|
rs1592509748
|
|
NM_001289808.2(CRYAB):c.96G>A (p.Leu32=)
|
rs782402748
|
|
NM_001289808.2(CRYAB):c.96G>T (p.Leu32=)
|
rs782402748
|
|