NM_000047.3(ARSL):c.36G>C (p.Arg12Ser)
|
rs122460151
|
0.00004
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser)
|
rs28935474
|
0.00001
|
NM_000047.3(ARSL):c.24-1G>A
|
rs762627146
|
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.1289+1G>A
|
rs2147349066
|
|
NM_000047.3(ARSL):c.1475G>A (p.Cys492Tyr)
|
rs122460155
|
|
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.733G>C (p.Gly245Arg)
|
rs122460154
|
|
NM_000047.3(ARSL):c.916A>G (p.Thr306Ala)
|
|
|
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.187C>T (p.Arg63Ter)
|
rs104894799
|
|
NM_006579.3(EBP):c.203G>A (p.Trp68Ter)
|
rs2061771803
|
|
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.292_296del (p.Ser98fs)
|
rs587783604
|
|
NM_006579.3(EBP):c.301+2T>A
|
rs587783606
|
|
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.312T>A (p.Tyr104Ter)
|
|
|
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.338+1G>C
|
rs1569479885
|
|
NM_006579.3(EBP):c.338+1G>T
|
rs1569479885
|
|
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.480T>G (p.Tyr160Ter)
|
rs587783616
|
|
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.586_587insA (p.Trp196Ter)
|
rs1569480016
|
|
NM_006579.3(EBP):c.587G>A (p.Trp196Ter)
|
rs104894794
|
|
NM_006579.3(EBP):c.87G>A (p.Trp29Ter)
|
rs104894798
|
|