NM_080911.3(UNG):c.533+6G>A
|
rs55812333
|
0.00163
|
NM_080911.3(UNG):c.246G>C (p.Leu82=)
|
rs144083363
|
0.00140
|
NM_080911.3(UNG):c.*699T>C
|
rs762462658
|
0.00119
|
NM_080911.3(UNG):c.*109A>G
|
rs533948770
|
0.00098
|
NM_080911.3(UNG):c.262C>T (p.Arg88Cys)
|
rs151095402
|
0.00090
|
NM_080911.3(UNG):c.*880A>T
|
rs567806750
|
0.00052
|
NM_080911.3(UNG):c.194C>T (p.Pro65Leu)
|
rs199956941
|
0.00051
|
NM_080911.3(UNG):c.183G>A (p.Pro61=)
|
rs147490205
|
0.00038
|
NM_080911.3(UNG):c.514C>G (p.Pro172Ala)
|
rs143527092
|
0.00018
|
NM_080911.3(UNG):c.805C>T (p.Arg269Trp)
|
rs143034537
|
0.00018
|
NM_080911.3(UNG):c.593A>G (p.His198Arg)
|
rs201388456
|
0.00013
|
NM_080911.3(UNG):c.32T>C (p.Phe11Ser)
|
rs747684225
|
0.00011
|
NM_080911.3(UNG):c.*313C>G
|
rs886048909
|
0.00010
|
NM_080911.3(UNG):c.265A>G (p.Asn89Asp)
|
rs201031933
|
0.00009
|
NM_080911.3(UNG):c.*522A>G
|
rs189054927
|
0.00008
|
NM_080911.3(UNG):c.*445C>T
|
rs769388131
|
0.00007
|
NM_080911.3(UNG):c.*573G>C
|
rs1028482157
|
0.00006
|
NM_080911.3(UNG):c.*611C>T
|
rs886048911
|
0.00006
|
NM_080911.3(UNG):c.173C>T (p.Pro58Leu)
|
rs371482568
|
0.00006
|
NM_080911.3(UNG):c.721T>C (p.Trp241Arg)
|
rs150180082
|
0.00006
|
NM_080911.3(UNG):c.399A>C (p.Gln133His)
|
rs576044400
|
0.00005
|
NM_080911.3(UNG):c.260C>T (p.Ala87Val)
|
rs767034552
|
0.00004
|
NM_080911.3(UNG):c.415C>A (p.Gln139Lys)
|
rs766218046
|
0.00004
|
NM_080911.3(UNG):c.452T>C (p.Leu151Pro)
|
rs746462706
|
0.00004
|
NM_080911.3(UNG):c.548A>G (p.Tyr183Cys)
|
rs745764048
|
0.00004
|
NM_080911.3(UNG):c.81C>A (p.Ala27=)
|
rs761928219
|
0.00004
|
NM_080911.3(UNG):c.*111A>T
|
rs770692724
|
0.00003
|
NM_080911.3(UNG):c.188C>T (p.Ser63Phe)
|
rs140065688
|
0.00003
|
NM_080911.3(UNG):c.36C>A (p.Ser12=)
|
rs772832695
|
0.00003
|
NM_080911.3(UNG):c.851A>G (p.Tyr284Cys)
|
rs149153434
|
0.00003
|
NM_080911.3(UNG):c.191C>G (p.Ser64Trp)
|
rs757987852
|
0.00002
|
NM_080911.3(UNG):c.366A>C (p.Arg122Ser)
|
rs200273184
|
0.00002
|
NM_080911.3(UNG):c.769T>C (p.Tyr257His)
|
rs769188214
|
0.00002
|
NM_080911.3(UNG):c.802-8T>A
|
rs771426933
|
0.00002
|
NM_080911.3(UNG):c.*2C>A
|
rs767818599
|
0.00001
|
NM_080911.3(UNG):c.*655A>C
|
rs775022596
|
0.00001
|
NM_080911.3(UNG):c.-73C>T
|
rs886048904
|
0.00001
|
NM_080911.3(UNG):c.231C>G (p.Asn77Lys)
|
rs762261195
|
0.00001
|
NM_080911.3(UNG):c.268G>C (p.Val90Leu)
|
rs749104168
|
0.00001
|
NM_080911.3(UNG):c.34T>A (p.Ser12Thr)
|
rs769496984
|
0.00001
|
NM_080911.3(UNG):c.371A>G (p.His124Arg)
|
rs1035623046
|
0.00001
|
NM_080911.3(UNG):c.487C>G (p.His163Asp)
|
rs1188727621
|
0.00001
|
NM_080911.3(UNG):c.523C>G (p.Pro175Ala)
|
rs1201337667
|
0.00001
|
NM_080911.3(UNG):c.583C>A (p.His195Asn)
|
rs1441489549
|
0.00001
|
NM_080911.3(UNG):c.61G>A (p.Ala21Thr)
|
rs1435043915
|
0.00001
|
NM_080911.3(UNG):c.620A>G (p.Gln207Arg)
|
rs1196324378
|
0.00001
|
NM_080911.3(UNG):c.623-9T>A
|
rs745983593
|
0.00001
|
NM_080911.3(UNG):c.638A>G (p.Asn213Ser)
|
rs776921243
|
0.00001
|
NM_080911.3(UNG):c.65C>T (p.Pro22Leu)
|
rs373668102
|
0.00001
|
NM_080911.3(UNG):c.6C>A (p.Ile2=)
|
rs886048905
|
0.00001
|
NM_080911.3(UNG):c.801+5G>A
|
rs762578814
|
0.00001
|
NM_080911.3(UNG):c.812A>G (p.His271Arg)
|
rs147460908
|
0.00001
|
NM_080911.3(UNG):c.824C>T (p.Thr275Met)
|
rs761656626
|
0.00001
|
NM_080911.3(UNG):c.839C>T (p.Pro280Leu)
|
rs202127223
|
0.00001
|
NM_080911.3(UNG):c.86A>C (p.Gln29Pro)
|
rs765512122
|
0.00001
|
NC_000012.11:g.(?_109547614)_(109547774_?)del
|
|
|
NC_000012.11:g.(?_109547614)_(109547794_?)dup
|
|
|
NC_000012.12:g.(?_109109809)_(109109989_?)del
|
|
|
NM_080911.3(UNG):c.*1018A>G
|
rs538993598
|
|
NM_080911.3(UNG):c.*129C>T
|
rs2042250000
|
|
NM_080911.3(UNG):c.*159G>A
|
rs886048907
|
|
NM_080911.3(UNG):c.*281C>T
|
rs886048908
|
|
NM_080911.3(UNG):c.*376C>G
|
rs2042251751
|
|
NM_080911.3(UNG):c.*500C>G
|
rs780337127
|
|
NM_080911.3(UNG):c.*537G>A
|
rs886048910
|
|
NM_080911.3(UNG):c.*545A>G
|
rs562354759
|
|
NM_080911.3(UNG):c.*705T>C
|
rs990568930
|
|
NM_080911.3(UNG):c.*719G>A
|
rs886048912
|
|
NM_080911.3(UNG):c.*858T>G
|
rs914567653
|
|
NM_080911.3(UNG):c.*866AT[5]
|
rs56185014
|
|
NM_080911.3(UNG):c.-50G>A
|
rs370117219
|
|
NM_080911.3(UNG):c.-51A>G
|
rs375712849
|
|
NM_080911.3(UNG):c.-51A>T
|
rs375712849
|
|
NM_080911.3(UNG):c.134C>T (p.Ala45Val)
|
|
|
NM_080911.3(UNG):c.14A>G (p.Lys5Arg)
|
rs2135880926
|
|
NM_080911.3(UNG):c.155C>G (p.Pro52Arg)
|
rs771026474
|
|
NM_080911.3(UNG):c.178_182delinsCAGGAGGA (p.Thr60_Pro61delinsGlnGluGlu)
|
rs2042150747
|
|
NM_080911.3(UNG):c.200G>A (p.Ser67Asn)
|
rs755887246
|
|
NM_080911.3(UNG):c.204C>G (p.Ala68=)
|
rs777436497
|
|
NM_080911.3(UNG):c.204C>T (p.Ala68=)
|
rs777436497
|
|
NM_080911.3(UNG):c.232A>G (p.Lys78Glu)
|
rs1158616684
|
|
NM_080911.3(UNG):c.263G>C (p.Arg88Pro)
|
|
|
NM_080911.3(UNG):c.271C>G (p.Pro91Ala)
|
rs2135882421
|
|
NM_080911.3(UNG):c.288G>C (p.Glu96Asp)
|
|
|
NM_080911.3(UNG):c.318C>A (p.Phe106Leu)
|
rs2042152878
|
|
NM_080911.3(UNG):c.340-3C>T
|
rs2042158091
|
|
NM_080911.3(UNG):c.388C>A (p.Pro130Thr)
|
|
|
NM_080911.3(UNG):c.399A>G (p.Gln133=)
|
rs576044400
|
|
NM_080911.3(UNG):c.435+15T>A
|
rs765672149
|
|
NM_080911.3(UNG):c.437T>G (p.Val146Gly)
|
|
|
NM_080911.3(UNG):c.47_73del (p.Ala16_Pro24del)
|
rs1426059529
|
|
NM_080911.3(UNG):c.487C>T (p.His163Tyr)
|
|
|
NM_080911.3(UNG):c.489C>A (p.His163Gln)
|
|
|
NM_080911.3(UNG):c.489C>G (p.His163Gln)
|
rs376918741
|
|
NM_080911.3(UNG):c.490G>A (p.Gly164Arg)
|
rs745760429
|
|
NM_080911.3(UNG):c.508C>G (p.Gln170Glu)
|
rs2042181539
|
|
NM_080911.3(UNG):c.521C>T (p.Pro174Leu)
|
|
|
NM_080911.3(UNG):c.524C>T (p.Pro175Leu)
|
rs2135885863
|
|
NM_080911.3(UNG):c.527C>T (p.Pro176Leu)
|
|
|
NM_080911.3(UNG):c.541A>G (p.Asn181Asp)
|
rs2135886688
|
|
NM_080911.3(UNG):c.544A>G (p.Ile182Val)
|
rs545691651
|
|
NM_080911.3(UNG):c.580G>A (p.Val194Ile)
|
|
|
NM_080911.3(UNG):c.586C>T (p.Pro196Ser)
|
rs2135886797
|
|
NM_080911.3(UNG):c.622+6C>G
|
|
|
NM_080911.3(UNG):c.62C>T (p.Ala21Val)
|
rs1268732277
|
|
NM_080911.3(UNG):c.631C>A (p.Leu211Ile)
|
rs2042193445
|
|
NM_080911.3(UNG):c.631C>T (p.Leu211Phe)
|
|
|
NM_080911.3(UNG):c.634C>G (p.Leu212Val)
|
|
|
NM_080911.3(UNG):c.640G>A (p.Ala214Thr)
|
|
|
NM_080911.3(UNG):c.653T>G (p.Val218Gly)
|
rs1357632504
|
|
NM_080911.3(UNG):c.660C>T (p.Ala220=)
|
rs572632781
|
|
NM_080911.3(UNG):c.664C>G (p.Gln222Glu)
|
rs2042193896
|
|
NM_080911.3(UNG):c.674C>T (p.Ser225Phe)
|
|
|
NM_080911.3(UNG):c.686G>A (p.Arg229Gln)
|
rs146408261
|
|
NM_080911.3(UNG):c.710C>G (p.Ala237Gly)
|
rs201146665
|
|
NM_080911.3(UNG):c.737C>T (p.Ser246Leu)
|
|
|
NM_080911.3(UNG):c.76C>T (p.Pro26Ser)
|
rs1321029062
|
|
NM_080911.3(UNG):c.778AAG[1] (p.Lys261del)
|
rs754010984
|
|
NM_080911.3(UNG):c.77C>A (p.Pro26Gln)
|
|
|
NM_080911.3(UNG):c.796G>C (p.Asp266His)
|
rs2135887679
|
|
NM_080911.3(UNG):c.802-6T>C
|
rs1593326349
|
|
NM_080911.3(UNG):c.824C>G (p.Thr275Arg)
|
|
|
NM_080911.3(UNG):c.825G>A (p.Thr275=)
|
rs765151419
|
|
NM_080911.3(UNG):c.868T>G (p.Cys290Gly)
|
rs749817306
|
|
NM_080911.3(UNG):c.891dup (p.Glu298Ter)
|
rs2042248475
|
|
NM_080911.3(UNG):c.911G>A (p.Gly304Asp)
|
rs1555265484
|
|
NM_080911.3(UNG):c.925G>A (p.Asp309Asn)
|
|
|
NM_080911.3(UNG):c.934G>A (p.Glu312Lys)
|
rs2135896214
|
|