NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met)
|
rs116001129
|
0.00026
|
NM_006019.4(TCIRG1):c.148C>T (p.Arg50Cys)
|
rs370319355
|
0.00015
|
NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met)
|
rs372826788
|
0.00015
|
NM_006019.4(TCIRG1):c.391G>A (p.Val131Met)
|
rs377377656
|
0.00004
|
NM_000396.4(CTSK):c.365G>A (p.Arg122Gln)
|
rs1553197383
|
0.00001
|
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)
|
rs200851583
|
0.00001
|
NM_006019.4(TCIRG1):c.725A>G (p.His242Arg)
|
rs759557477
|
0.00001
|
NM_000396.4(CTSK):c.114CAA[1] (p.Asn39del)
|
rs750595350
|
|
NM_000396.4(CTSK):c.21GCT[1] (p.Leu9del)
|
rs1553197476
|
|
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro)
|
rs762212949
|
|
NM_000396.4(CTSK):c.577C>T (p.Arg193Trp)
|
rs747914097
|
|
NM_000396.4(CTSK):c.749A>G (p.Asp250Gly)
|
rs770343722
|
|
NM_006019.4(TCIRG1):c.*1_*9del (p.Ter831=)
|
rs1555000463
|
|
NM_006019.4(TCIRG1):c.1122_1124dup (p.Val375dup)
|
rs1554996686
|
|
NM_006019.4(TCIRG1):c.1306-2dup
|
rs1554997880
|
|
NM_006019.4(TCIRG1):c.1349T>G (p.Met450Arg)
|
rs1348842114
|
|
NM_006019.4(TCIRG1):c.1806_1811del (p.Ala603_Pro604del)
|
rs1425479122
|
|
NM_006019.4(TCIRG1):c.1835_1837del (p.Asn612del)
|
rs1554999148
|
|
NM_006019.4(TCIRG1):c.1903_1920del (p.Thr635_Ala640del)
|
rs1554999539
|
|
NM_006019.4(TCIRG1):c.1973_1975dup (p.Arg658dup)
|
rs757802200
|
|
NM_006019.4(TCIRG1):c.1976_1978dup (p.His659dup)
|
rs1554999610
|
|
NM_006019.4(TCIRG1):c.1979GCC[1] (p.Arg661_Arg662del)
|
rs781509075
|
|
NM_006019.4(TCIRG1):c.1993AGG[1] (p.Arg666del)
|
rs886332099
|
|
NM_006019.4(TCIRG1):c.2185T>C (p.Ser729Pro)
|
rs1279951928
|
|
NM_006019.4(TCIRG1):c.2274_2279dup (p.760LG[3])
|
rs761752296
|
|
NM_006019.4(TCIRG1):c.2279TGGGCC[4] (p.760LG[4])
|
rs199973759
|
|
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter)
|
rs1555000308
|
|
NM_006019.4(TCIRG1):c.609_620del (p.Gln203_Glu206del)
|
rs1554995554
|
|
NM_006019.4(TCIRG1):c.649A>G (p.Met217Val)
|
rs1554995659
|
|
NM_006019.4(TCIRG1):c.651G>T (p.Met217Ile)
|
rs1554995662
|
|
NM_006019.4(TCIRG1):c.746AGG[2] (p.Glu251del)
|
rs1554995833
|
|
NM_006019.4(TCIRG1):c.807+18_807+54del
|
rs1192256631
|
|
NM_006019.4(TCIRG1):c.942_943insGTG (p.Thr314_His315insVal)
|
rs779622577
|
|