NM_000022.4(ADA):c.643G>A (p.Ala215Thr)
|
rs114025668
|
0.00030
|
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_000022.4(ADA):c.320T>C (p.Leu107Pro)
|
rs121908739
|
0.00007
|
NM_000022.4(ADA):c.646G>A (p.Gly216Arg)
|
rs121908723
|
0.00006
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
NM_000022.4(ADA):c.478+1G>A
|
rs761242509
|
0.00003
|
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
|
rs777820729
|
0.00003
|
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)
|
rs121908718
|
0.00003
|
NM_000022.4(ADA):c.350G>A (p.Trp117Ter)
|
rs749484894
|
0.00002
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
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_000022.4(ADA):c.218+1G>A
|
rs528390681
|
0.00001
|
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)
|
rs121908717
|
0.00001
|
NM_000022.4(ADA):c.377C>A (p.Pro126Gln)
|
rs1233957241
|
0.00001
|
NM_000022.4(ADA):c.424C>T (p.Arg142Ter)
|
rs780014431
|
0.00001
|
NM_000022.4(ADA):c.43C>G (p.His15Asp)
|
rs121908725
|
0.00001
|
NM_000022.4(ADA):c.445C>T (p.Arg149Trp)
|
rs121908733
|
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_000022.4(ADA):c.631C>T (p.Arg211Cys)
|
rs121908740
|
0.00001
|
NM_000022.4(ADA):c.845+1G>C
|
rs766590645
|
0.00001
|
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)
|
rs751635016
|
0.00001
|
GRCh37/hg19 20q13.12(chr20:43264839-43265435)
|
|
|
NM_000022.4(ADA):c.1021_1022del (p.Arg341fs)
|
rs2065317387
|
|
NM_000022.4(ADA):c.1078+1G>A
|
|
|
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter)
|
rs1419063255
|
|
NM_000022.4(ADA):c.218+1G>T
|
|
|
NM_000022.4(ADA):c.219-2A>G
|
rs387906267
|
|
NM_000022.4(ADA):c.220G>T (p.Gly74Cys)
|
rs121908730
|
|
NM_000022.4(ADA):c.293del (p.Val98fs)
|
|
|
NM_000022.4(ADA):c.302G>A (p.Arg101Gln)
|
rs121908714
|
|
NM_000022.4(ADA):c.311C>T (p.Pro104Leu)
|
rs1452483770
|
|
NM_000022.4(ADA):c.362+5_362+8del
|
rs763595926
|
|
NM_000022.4(ADA):c.363-1G>T
|
|
|
NM_000022.4(ADA):c.363-2A>T
|
|
|
NM_000022.4(ADA):c.366_367del (p.Asp123fs)
|
rs758073965
|
|
NM_000022.4(ADA):c.385G>A (p.Val129Met)
|
rs121908731
|
|
NM_000022.4(ADA):c.396dup (p.Val133fs)
|
rs1555844617
|
|
NM_000022.4(ADA):c.407del (p.Gly136fs)
|
|
|
NM_000022.4(ADA):c.410del (p.Leu137fs)
|
|
|
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)
|
|
|
NM_000022.4(ADA):c.478+1G>C
|
|
|
NM_000022.4(ADA):c.478+6T>A
|
rs1555844600
|
|
NM_000022.4(ADA):c.482G>A (p.Trp161Ter)
|
|
|
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)
|
rs748810619
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
NM_000022.4(ADA):c.603C>A (p.Tyr201Ter)
|
rs1555844395
|
|
NM_000022.4(ADA):c.674_675del (p.Lys225fs)
|
|
|
NM_000022.4(ADA):c.679-2A>G
|
|
|
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)
|
rs778809577
|
|
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.781-1G>T
|
|
|
NM_000022.4(ADA):c.7C>T (p.Gln3Ter)
|
rs1057520217
|
|
NM_000022.4(ADA):c.845G>T (p.Arg282Leu)
|
|
|
NM_000022.4(ADA):c.854dup (p.Asn285fs)
|
rs2123511347
|
|
NM_000022.4(ADA):c.890C>T (p.Pro297Leu)
|
rs121908718
|
|
NM_000022.4(ADA):c.906_915delinsTGTTACCAGATTACCAGATG (p.Thr303fs)
|
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000022.4(ADA):c.976-1G>C
|
|
|
NM_000022.4(ADA):c.976-1_979del
|
rs1441174171
|
|
NM_000022.4(ADA):c.976-34G>A
|
rs1194494050
|
|
NM_000022.4(ADA):c.996_997del (p.Ser333fs)
|
rs2123508053
|
|