NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser)
|
rs35143646
|
0.50841
|
NM_000047.3(ARSL):c.1692C>T (p.Asn564=)
|
rs11222
|
0.47884
|
NM_006579.3(EBP):c.15G>T (p.Ala5=)
|
rs3048
|
0.28803
|
NM_000047.3(ARSL):c.78A>G (p.Ala26=)
|
rs35718384
|
0.07015
|
NM_000047.3(ARSL):c.549C>T (p.Arg183=)
|
rs5982618
|
0.03335
|
NM_000047.3(ARSL):c.157A>G (p.Ile53Val)
|
rs61733256
|
0.02854
|
NM_000047.3(ARSL):c.23+687G>A
|
rs61733257
|
0.02344
|
NM_000047.3(ARSL):c.24-26C>T
|
rs2302079
|
0.01922
|
NM_000047.3(ARSL):c.548G>A (p.Arg183His)
|
rs34412194
|
0.01378
|
NM_000047.3(ARSL):c.495T>C (p.His165=)
|
rs35274634
|
0.01303
|
NM_000047.3(ARSL):c.430+8C>T
|
rs56393981
|
0.00462
|
NM_006579.3(EBP):c.382C>T (p.Leu128=)
|
rs142881014
|
0.00291
|
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser)
|
rs142375403
|
0.00129
|
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)
|
rs141925556
|
0.00064
|
NM_000047.3(ARSL):c.775C>G (p.His259Asp)
|
rs138149353
|
0.00052
|
NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg)
|
rs201424543
|
0.00049
|
NM_006579.3(EBP):c.650C>T (p.Thr217Met)
|
rs150348311
|
0.00044
|
NM_000047.3(ARSL):c.897C>T (p.His299=)
|
rs148471739
|
0.00043
|
NM_006579.3(EBP):c.13G>A (p.Ala5Thr)
|
rs201992088
|
0.00027
|
NM_000047.3(ARSL):c.467G>A (p.Ser156Asn)
|
rs41310272
|
0.00021
|
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)
|
rs80338711
|
0.00009
|
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser)
|
rs122460151
|
0.00004
|
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys)
|
rs368359145
|
0.00004
|
NM_006579.3(EBP):c.188G>A (p.Arg63Gln)
|
rs782638360
|
0.00004
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
NM_000047.3(ARSL):c.23G>C (p.Cys8Ser)
|
rs1057521599
|
0.00003
|
NM_000047.3(ARSL):c.119T>G (p.Ile40Ser)
|
rs80338710
|
0.00001
|
NM_000047.3(ARSL):c.1442C>T (p.Thr481Met)
|
rs80338713
|
0.00001
|
NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser)
|
rs28935474
|
0.00001
|
NM_000047.3(ARSL):c.24-1G>A
|
rs762627146
|
0.00001
|
NM_000047.3(ARSL):c.337C>T (p.Leu113Phe)
|
rs145946864
|
0.00001
|
NM_000047.3(ARSL):c.898G>A (p.Val300Ile)
|
rs752354785
|
0.00001
|
NM_000047.3(ARSL):c.949G>A (p.Gly317Arg)
|
rs1178912922
|
0.00001
|
NC_000023.10:g.(?_2838632)_(2878441_?)del
|
|
|
NC_000023.11:g.(?_2934812)_(2958455_?)del
|
|
|
NC_000023.11:g.(?_2934812)_(2960420_?)del
|
|
|
NM_000047.3(ARSL):c.-14GA[3]
|
rs200332753
|
|
NM_000047.3(ARSL):c.1022G>T (p.Gly341Val)
|
rs2089304436
|
|
NM_000047.3(ARSL):c.1127-141GA[10]
|
rs34095951
|
|
NM_000047.3(ARSL):c.1219G>T (p.Glu407Ter)
|
rs1272438892
|
|
NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu)
|
rs142382411
|
|
NM_000047.3(ARSL):c.1265C>T (p.Ala422Val)
|
|
|
NM_000047.3(ARSL):c.1289+1G>A
|
rs2147349066
|
|
NM_000047.3(ARSL):c.1475G>A (p.Cys492Tyr)
|
rs122460155
|
|
NM_000047.3(ARSL):c.217G>A (p.Gly73Ser)
|
rs2147394157
|
|
NM_000047.3(ARSL):c.332G>C (p.Arg111Pro)
|
rs122460153
|
|
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg)
|
rs122460152
|
|
NM_000047.3(ARSL):c.410G>T (p.Gly137Val)
|
rs80338711
|
|
NM_000047.3(ARSL):c.430G>A (p.Gly144Arg)
|
|
|
NM_000047.3(ARSL):c.684C>G (p.Ile228Met)
|
rs1359359899
|
|
NM_000047.3(ARSL):c.733G>C (p.Gly245Arg)
|
rs122460154
|
|
NM_000047.3(ARSL):c.910_918del (p.Leu304_Thr306del)
|
|
|
NM_000047.3(ARSL):c.916A>G (p.Thr306Ala)
|
|
|
NM_000047.3(ARSL):c.991+2T>C
|
|
|
NM_000047.3(ARSL):c.992-219C>G
|
rs211643
|
|
NM_006579.3(EBP):c.141G>T (p.Trp47Cys)
|
rs587783599
|
|
NM_006579.3(EBP):c.182G>A (p.Trp61Ter)
|
rs587783600
|
|
NM_006579.3(EBP):c.184C>T (p.Arg62Trp)
|
rs372974717
|
|
NM_006579.3(EBP):c.187C>T (p.Arg63Ter)
|
rs104894799
|
|
NM_006579.3(EBP):c.201_203dup (p.Cys67dup)
|
rs797045542
|
|
NM_006579.3(EBP):c.203G>A (p.Trp68Ter)
|
rs2061771803
|
|
NM_006579.3(EBP):c.204G>T (p.Trp68Cys)
|
rs587783601
|
|
NM_006579.3(EBP):c.206T>G (p.Phe69Cys)
|
rs2147154702
|
|
NM_006579.3(EBP):c.214T>C (p.Cys72Arg)
|
rs587783602
|
|
NM_006579.3(EBP):c.218G>A (p.Gly73Glu)
|
rs587783603
|
|
NM_006579.3(EBP):c.225dup (p.His76fs)
|
rs797045543
|
|
NM_006579.3(EBP):c.238G>A (p.Glu80Lys)
|
rs104894800
|
|
NM_006579.3(EBP):c.261C>G (p.Tyr87Ter)
|
rs145509273
|
|
NM_006579.3(EBP):c.278A>T (p.Asp93Val)
|
|
|
NM_006579.3(EBP):c.283G>A (p.Ala95Thr)
|
rs2147154752
|
|
NM_006579.3(EBP):c.292_296del (p.Ser98fs)
|
rs587783604
|
|
NM_006579.3(EBP):c.299T>C (p.Leu100Pro)
|
rs587783605
|
|
NM_006579.3(EBP):c.301+2T>A
|
rs587783606
|
|
NM_006579.3(EBP):c.303G>T (p.Trp101Cys)
|
rs587783607
|
|
NM_006579.3(EBP):c.304A>T (p.Lys102Ter)
|
rs587783608
|
|
NM_006579.3(EBP):c.310T>C (p.Tyr104His)
|
rs587783609
|
|
NM_006579.3(EBP):c.311A>G (p.Tyr104Cys)
|
rs587783610
|
|
NM_006579.3(EBP):c.312T>A (p.Tyr104Ter)
|
|
|
NM_006579.3(EBP):c.314C>A (p.Ala105Asp)
|
rs587783611
|
|
NM_006579.3(EBP):c.320G>A (p.Gly107Glu)
|
rs587783612
|
|
NM_006579.3(EBP):c.328C>T (p.Arg110Ter)
|
rs587783613
|
|
NM_006579.3(EBP):c.329G>A (p.Arg110Gln)
|
rs1602090481
|
|
NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter)
|
rs797045544
|
|
NM_006579.3(EBP):c.331T>C (p.Tyr111His)
|
rs587783614
|
|
NM_006579.3(EBP):c.338+1G>C
|
rs1569479885
|
|
NM_006579.3(EBP):c.338+1G>T
|
rs1569479885
|
|
NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly)
|
rs797045545
|
|
NM_006579.3(EBP):c.386G>A (p.Trp129Ter)
|
rs104894792
|
|
NM_006579.3(EBP):c.390del (p.Pro131fs)
|
rs1569479901
|
|
NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs)
|
rs797045546
|
|
NM_006579.3(EBP):c.440G>A (p.Arg147His)
|
rs28935174
|
|
NM_006579.3(EBP):c.464_465del (p.Ser155fs)
|
rs587783615
|
|
NM_006579.3(EBP):c.470-3C>G
|
|
|
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter)
|
rs587783616
|
|
NM_006579.3(EBP):c.481G>A (p.Gly161Arg)
|
rs587783617
|
|
NM_006579.3(EBP):c.484dup (p.Asp162fs)
|
rs797045547
|
|
NM_006579.3(EBP):c.506_507del (p.Glu169fs)
|
rs1602091152
|
|
NM_006579.3(EBP):c.523C>T (p.Gln175Ter)
|
rs104894793
|
|
NM_006579.3(EBP):c.527A>G (p.His176Arg)
|
rs587783618
|
|
NM_006579.3(EBP):c.586_587insA (p.Trp196Ter)
|
rs1569480016
|
|
NM_006579.3(EBP):c.587G>A (p.Trp196Ter)
|
rs104894794
|
|
NM_006579.3(EBP):c.632T>G (p.Leu211Arg)
|
rs587783619
|
|
NM_006579.3(EBP):c.684GAA[1] (p.Lys229del)
|
rs587783620
|
|
NM_006579.3(EBP):c.87G>A (p.Trp29Ter)
|
rs104894798
|
|