NM_000027.4(AGA):c.488G>C (p.Cys163Ser)
|
rs121964904
|
0.00055
|
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)
|
rs765070743
|
0.00003
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
NM_000027.4(AGA):c.1A>G (p.Met1Val)
|
rs1054938291
|
0.00001
|
NM_000027.4(AGA):c.473G>A (p.Trp158Ter)
|
rs745976989
|
0.00001
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
NM_000027.4(AGA):c.86del (p.Leu29fs)
|
rs764598121
|
0.00001
|
NM_000027.4(AGA):c.940+1G>T
|
rs386833437
|
0.00001
|
NC_000004.11:g.(?_178351918)_(178357515_?)del
|
|
|
NC_000004.11:g.(?_178357420)_(178363667_?)del
|
|
|
NC_000004.11:g.(?_178363393)_(178363667_?)del
|
|
|
NM_000027.4(AGA):c.101_107del (p.Trp34fs)
|
rs759063638
|
|
NM_000027.4(AGA):c.128-2A>G
|
rs2111022003
|
|
NM_000027.4(AGA):c.172G>T (p.Glu58Ter)
|
|
|
NM_000027.4(AGA):c.187dup (p.Met63fs)
|
rs2111021738
|
|
NM_000027.4(AGA):c.192del (p.Cys64fs)
|
rs1553994830
|
|
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
|
|
|
NM_000027.4(AGA):c.200_201del (p.Glu67fs)
|
rs386833420
|
|
NM_000027.4(AGA):c.210del (p.Asp70fs)
|
rs1736955435
|
|
NM_000027.4(AGA):c.214T>C (p.Ser72Pro)
|
rs121964909
|
|
NM_000027.4(AGA):c.268dup (p.Met90fs)
|
rs2111021475
|
|
NM_000027.4(AGA):c.302C>T (p.Ala101Val)
|
rs121964908
|
|
NM_000027.4(AGA):c.329del (p.Asn110fs)
|
rs764357395
|
|
NM_000027.4(AGA):c.333del (p.Ile112fs)
|
rs1057517223
|
|
NM_000027.4(AGA):c.365C>A (p.Thr122Lys)
|
rs771563230
|
|
NM_000027.4(AGA):c.367_371del (p.Thr123fs)
|
rs1736928101
|
|
NM_000027.4(AGA):c.373_376del (p.Thr125fs)
|
rs386833425
|
|
NM_000027.4(AGA):c.375_376del (p.Leu126fs)
|
rs386833425
|
|
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
|
|
|
NM_000027.4(AGA):c.389_390del (p.Glu130fs)
|
|
|
NM_000027.4(AGA):c.3G>C (p.Met1Ile)
|
rs937973897
|
|
NM_000027.4(AGA):c.454C>T (p.Gln152Ter)
|
rs991950983
|
|
NM_000027.4(AGA):c.509dup (p.Asn170fs)
|
rs2111015936
|
|
NM_000027.4(AGA):c.519dup (p.Asp174fs)
|
rs2111015862
|
|
NM_000027.4(AGA):c.52C>T (p.Gln18Ter)
|
|
|
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)
|
rs748171793
|
|
NM_000027.4(AGA):c.555_558del (p.Gly186fs)
|
rs1736861131
|
|
NM_000027.4(AGA):c.55del (p.Ala19fs)
|
|
|
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)
|
rs370078048
|
|
NM_000027.4(AGA):c.665del (p.Thr222fs)
|
|
|
NM_000027.4(AGA):c.698+1del
|
rs2111013273
|
|
NM_000027.4(AGA):c.797dup (p.Leu267fs)
|
|
|
NM_000027.4(AGA):c.859C>T (p.Gln287Ter)
|
rs1736687730
|
|
NM_000027.4(AGA):c.864del (p.Lys288_Val289insTer)
|
|
|
NM_000027.4(AGA):c.940+1G>A
|
rs386833437
|
|
NM_000027.4(AGA):c.9del (p.Lys4fs)
|
|
|