NM_000022.4(ADA):c.986C>T (p.Ala329Val)
|
rs121908715
|
0.00021
|
NM_000022.4(ADA):c.221G>T (p.Gly74Val)
|
rs199422328
|
0.00009
|
NM_000022.4(ADA):c.632G>A (p.Arg211His)
|
rs121908716
|
0.00009
|
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)
|
rs193922461
|
0.00009
|
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu)
|
rs539590514
|
0.00009
|
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)
|
rs121908739
|
0.00007
|
NM_000022.4(ADA):c.646G>A (p.Gly216Arg)
|
rs121908723
|
0.00006
|
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp)
|
rs104894287
|
0.00006
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
NM_000448.3(RAG1):c.256_257del (p.Lys86fs)
|
rs772962160
|
0.00005
|
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln)
|
rs150739647
|
0.00004
|
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter)
|
rs193922464
|
0.00004
|
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)
|
rs121918575
|
0.00004
|
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys)
|
rs764485070
|
0.00004
|
NM_000022.4(ADA):c.478+1G>A
|
rs761242509
|
0.00003
|
NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp)
|
rs758288006
|
0.00003
|
NM_000448.3(RAG1):c.1303A>G (p.Met435Val)
|
rs141524540
|
0.00003
|
NM_000448.3(RAG1):c.335G>A (p.Arg112His)
|
rs749223640
|
0.00003
|
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)
|
rs36001797
|
0.00003
|
NM_001033855.3(DCLRE1C):c.109+1G>T
|
rs143144732
|
0.00003
|
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)
|
rs121908156
|
0.00003
|
NM_000022.4(ADA):c.350G>A (p.Trp117Ter)
|
rs749484894
|
0.00002
|
NM_000022.4(ADA):c.529G>A (p.Val177Met)
|
rs121908719
|
0.00002
|
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)
|
rs79281338
|
0.00002
|
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)
|
rs199422327
|
0.00002
|
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys)
|
rs104894289
|
0.00002
|
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys)
|
rs199474678
|
0.00002
|
NM_000448.3(RAG1):c.1682G>A (p.Arg561His)
|
rs104894284
|
0.00002
|
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)
|
rs199474676
|
0.00002
|
NM_000448.3(RAG1):c.2210G>A (p.Arg737His)
|
rs104894286
|
0.00002
|
NM_000022.4(ADA):c.424C>T (p.Arg142Ter)
|
rs780014431
|
0.00001
|
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)
|
rs121908735
|
0.00001
|
NM_000022.4(ADA):c.467G>A (p.Arg156His)
|
rs121908722
|
0.00001
|
NM_000022.4(ADA):c.536C>A (p.Ala179Asp)
|
rs121908727
|
0.00001
|
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)
|
rs121908724
|
0.00001
|
NM_000448.3(RAG1):c.1187G>A (p.Arg396His)
|
rs104894291
|
0.00001
|
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln)
|
rs750055861
|
0.00001
|
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val)
|
rs199474685
|
0.00001
|
NM_000448.3(RAG1):c.1421G>A (p.Arg474His)
|
rs199474686
|
0.00001
|
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys)
|
rs104894285
|
0.00001
|
NM_000448.3(RAG1):c.1870C>T (p.Arg624Cys)
|
rs199474688
|
0.00001
|
NM_000448.3(RAG1):c.1871G>A (p.Arg624His)
|
rs199474680
|
0.00001
|
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp)
|
rs121918572
|
0.00001
|
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter)
|
rs757797994
|
0.00001
|
NM_000448.3(RAG1):c.2867T>C (p.Ile956Thr)
|
rs182385524
|
0.00001
|
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp)
|
rs121918570
|
0.00001
|
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)
|
rs773929270
|
0.00001
|
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr)
|
rs121918571
|
0.00001
|
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter)
|
rs1315729938
|
0.00001
|
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp)
|
rs765298019
|
0.00001
|
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)
|
rs1317003987
|
0.00001
|
GRCh37/hg19 20q13.12(chr20:43264839-43265435)
|
|
|
NM_000022.4(ADA):c.1021_1022del (p.Arg341fs)
|
rs2065317387
|
|
NM_000022.4(ADA):c.219-2A>G
|
rs387906267
|
|
NM_000022.4(ADA):c.302G>A (p.Arg101Gln)
|
rs121908714
|
|
NM_000022.4(ADA):c.385G>A (p.Val129Met)
|
rs121908731
|
|
NM_000022.4(ADA):c.396dup (p.Val133fs)
|
rs1555844617
|
|
NM_000022.4(ADA):c.478+6T>A
|
rs1555844600
|
|
NM_000022.4(ADA):c.482G>A (p.Trp161Ter)
|
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
NM_000022.4(ADA):c.716G>A (p.Gly239Asp)
|
rs1312320956
|
|
NM_000022.4(ADA):c.736C>T (p.Gln246Ter)
|
rs1555844120
|
|
NM_000022.4(ADA):c.760C>T (p.Gln254Ter)
|
rs2065345592
|
|
NM_000022.4(ADA):c.7C>T (p.Gln3Ter)
|
rs1057520217
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000022.4(ADA):c.976-1G>C
|
|
|
NM_000022.4(ADA):c.996_997del (p.Ser333fs)
|
rs2123508053
|
|
NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln)
|
rs1850805503
|
|
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp)
|
rs764981110
|
|
NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs)
|
rs749256215
|
|
NM_000448.3(RAG1):c.2615T>A (p.Leu872Ter)
|
|
|
NM_000448.3(RAG1):c.2623del (p.Ser875fs)
|
|
|
NM_000448.3(RAG1):c.2850del (p.Ile950fs)
|
rs2133298263
|
|
NM_000448.3(RAG1):c.519del (p.Glu174fs)
|
rs1241698978
|
|
NM_000448.3(RAG1):c.691C>T (p.Gln231Ter)
|
|
|
NM_000448.3(RAG1):c.775del (p.Ser259fs)
|
rs878853031
|
|
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp)
|
rs121918568
|
|
NM_000448.3(RAG1):c.994C>T (p.Arg332Ter)
|
rs568867325
|
|
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala)
|
rs148508754
|
|
NM_000536.4(RAG2):c.104G>T (p.Gly35Val)
|
rs148508754
|
|
NM_000536.4(RAG2):c.1142_1143del (p.Asp380_Ser381insTer)
|
|
|
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)
|
rs193922572
|
|
NM_000536.4(RAG2):c.1403_1406del (p.His468fs)
|
rs786205616
|
|
NM_000536.4(RAG2):c.171del (p.Lys58fs)
|
|
|
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)
|
rs121917894
|
|
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)
|
rs121908159
|
|
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs)
|
rs786200884
|
|
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter)
|
rs1839957089
|
|
NM_001033855.3(DCLRE1C):c.362+1G>T
|
rs1564446526
|
|
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)
|
rs752655158
|
|
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)
|
rs121908157
|
|
NM_001625.4(AK2):c.545C>A (p.Ala182Asp)
|
rs559947967
|
|