|
NM_014271.4(IL1RAPL1):c.-19G>A
|
rs6526806
|
0.61514
|
|
NM_014271.4(IL1RAPL1):c.-39G>A
|
rs143054072
|
0.00962
|
|
NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=)
|
rs7049358
|
0.00631
|
|
NM_014271.4(IL1RAPL1):c.1605G>T (p.Thr535=)
|
rs35305747
|
0.00223
|
|
NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=)
|
rs148060509
|
0.00132
|
|
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=)
|
rs143600441
|
0.00127
|
|
NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=)
|
rs140330609
|
0.00111
|
|
NM_014271.4(IL1RAPL1):c.-20C>T
|
rs200878713
|
0.00072
|
|
NM_014271.4(IL1RAPL1):c.83-6C>T
|
rs180930821
|
0.00066
|
|
NM_014271.4(IL1RAPL1):c.1136A>G (p.Lys379Arg)
|
rs138267399
|
0.00036
|
|
NM_014271.4(IL1RAPL1):c.550-4A>G
|
rs368301683
|
0.00008
|
|
NM_014271.4(IL1RAPL1):c.1443C>T (p.Tyr481=)
|
rs777536426
|
0.00006
|
|
NM_014271.4(IL1RAPL1):c.1910C>G (p.Thr637Ser)
|
rs756672167
|
0.00006
|
|
NM_014271.4(IL1RAPL1):c.726C>A (p.Pro242=)
|
rs748193306
|
0.00006
|
|
NM_014271.4(IL1RAPL1):c.-25+14A>C
|
rs146138116
|
0.00005
|
|
NM_014271.4(IL1RAPL1):c.-402G>A
|
rs1057515846
|
0.00002
|
|
NM_014271.4(IL1RAPL1):c.-405T>A
|
rs762456633
|
0.00002
|
|
NM_014271.4(IL1RAPL1):c.1602G>A (p.Leu534=)
|
rs1242850856
|
0.00002
|
|
NM_014271.4(IL1RAPL1):c.408T>C (p.Gly136=)
|
rs1397912387
|
0.00002
|
|
NM_014271.4(IL1RAPL1):c.1089C>T (p.Gly363=)
|
rs201215945
|
0.00001
|
|
GRCh37/hg19 Xp21.2(chrX:29686547-29686621)
|
|
|
|
NC_000023.11:g.29892903_29905635del
|
|
|
|
NG_008292.1:g.700375-?_1335033+?del
|
|
|
|
NG_008292.2:g.(?_707879)_(1040749_?)del
|
|
|
|
NM_014271.4(IL1RAPL1):c.-82C>A
|
rs1057515849
|
|
|
NM_014271.4(IL1RAPL1):c.1024C>T (p.Arg342Cys)
|
|
|
|
NM_014271.4(IL1RAPL1):c.1054C>T (p.Arg352Ter)
|
rs1569203705
|
|
|
NM_014271.4(IL1RAPL1):c.1075del (p.Glu359fs)
|
rs2147251555
|
|
|
NM_014271.4(IL1RAPL1):c.1118_1173dup (p.His392delinsValTrpTer)
|
|
|
|
NM_014271.4(IL1RAPL1):c.1133_1136dup (p.Cys380fs)
|
|
|
|
NM_014271.4(IL1RAPL1):c.1191_1201+6del
|
|
|
|
NM_014271.4(IL1RAPL1):c.1195G>A (p.Asp399Asn)
|
|
|
|
NM_014271.4(IL1RAPL1):c.1227dup (p.Ser410fs)
|
rs2147258610
|
|
|
NM_014271.4(IL1RAPL1):c.1368T>A (p.Thr456=)
|
rs1057515851
|
|
|
NM_014271.4(IL1RAPL1):c.1377C>A (p.Tyr459Ter)
|
rs122461160
|
|
|
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter)
|
rs122461161
|
|
|
NM_014271.4(IL1RAPL1):c.148C>T (p.Arg50Ter)
|
rs781674023
|
|
|
NM_014271.4(IL1RAPL1):c.1690A>C (p.Ile564Leu)
|
rs1057515852
|
|
|
NM_014271.4(IL1RAPL1):c.1743_1744del (p.Phe581fs)
|
|
|
|
NM_014271.4(IL1RAPL1):c.1781C>T (p.Ala594Val)
|
|
|
|
NM_014271.4(IL1RAPL1):c.1882T>C (p.Tyr628His)
|
rs2147259256
|
|
|
NM_014271.4(IL1RAPL1):c.1891G>A (p.Asp631Asn)
|
rs1933404123
|
|
|
NM_014271.4(IL1RAPL1):c.1891_1897del (p.Asp631fs)
|
rs2147259265
|
|
|
NM_014271.4(IL1RAPL1):c.206G>A (p.Ser69Asn)
|
rs747458852
|
|
|
NM_014271.4(IL1RAPL1):c.2071A>G (p.Ile691Val)
|
rs1933408855
|
|
|
NM_014271.4(IL1RAPL1):c.363-41213G>A
|
rs1383210759
|
|
|
NM_014271.4(IL1RAPL1):c.366_379delinsGTAACAAAG (p.Asn122_Met127delinsLysTer)
|
|
|
|
NM_014271.4(IL1RAPL1):c.424C>G (p.Leu142Val)
|
|
|
|
NM_014271.4(IL1RAPL1):c.448T>G (p.Tyr150Asp)
|
rs1933918841
|
|
|
NM_014271.4(IL1RAPL1):c.779G>A (p.Gly260Asp)
|
rs1932808020
|
|
|
NM_014271.4(IL1RAPL1):c.82+2T>C
|
|
|
|
NM_014271.4(IL1RAPL1):c.82G>A (p.Ala28Thr)
|
|
|
|
NM_014271.4(IL1RAPL1):c.84C>T (p.Ala28=)
|
|
|
|
NM_014271.4(IL1RAPL1):c.974AAG[1] (p.Glu326del)
|
|
|
|
NM_014271.4:c.(?_704)_(778_?)dup
|
|
|
|
t(X;19)(p21.2;q13.41)dn
|
|
|