NM_024312.5(GNPTAB):c.2019A>G (p.Lys673=)
|
rs551905649
|
0.00005
|
NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn)
|
rs750240374
|
0.00001
|
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys)
|
rs769587233
|
0.00001
|
NM_000308.4(CTSA):c.580G>A (p.Asp194Asn)
|
rs2145816069
|
|
NM_024312.5(GNPTAB):c.1021_1023del (p.Pro341del)
|
rs1060499679
|
|
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro)
|
rs112543062
|
|
NM_024312.5(GNPTAB):c.1408+1G>T
|
rs1060499680
|
|
NM_024312.5(GNPTAB):c.1540C>T (p.Leu514Phe)
|
rs1953089808
|
|
NM_024312.5(GNPTAB):c.1613-25del
|
rs546802775
|
|
NM_024312.5(GNPTAB):c.2129_2135del (p.Ser710fs)
|
rs1953060183
|
|
NM_024312.5(GNPTAB):c.2369_2370del (p.Phe790fs)
|
rs1060499685
|
|
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)
|
rs281864996
|
|
NM_024312.5(GNPTAB):c.2550_2554dup (p.Ile852fs)
|
rs281864996
|
|
NM_024312.5(GNPTAB):c.2614del (p.Val872fs)
|
rs1060499681
|
|
NM_024312.5(GNPTAB):c.2675dup (p.Leu892fs)
|
rs1555269488
|
|
NM_024312.5(GNPTAB):c.2947_2954dup (p.Arg986fs)
|
rs1555269154
|
|
NM_024312.5(GNPTAB):c.2953_2954delinsA (p.Val985fs)
|
rs1952989955
|
|
NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His)
|
rs776312538
|
|
NM_024312.5(GNPTAB):c.2985_2989del (p.Phe995fs)
|
rs1952988642
|
|
NM_024312.5(GNPTAB):c.3250-10_3335+112dup
|
rs1555268712
|
|
NM_024312.5(GNPTAB):c.3250-16_3335+104dup
|
rs1952918542
|
|
NM_024312.5(GNPTAB):c.3250-1_3250delinsAT
|
rs1060499687
|
|
NM_024312.5(GNPTAB):c.3307_3318delinsCAGTAACT (p.Lys1103_Lys1106delinsGlnTer)
|
rs1952921914
|
|
NM_024312.5(GNPTAB):c.3336-1G>A
|
rs397507562
|
|
NM_024312.5(GNPTAB):c.3449del (p.Leu1150fs)
|
rs1060499684
|
|
NM_024312.5(GNPTAB):c.3539C>T (p.Ser1180Phe)
|
rs1060499689
|
|
NM_024312.5(GNPTAB):c.3575T>C (p.Phe1192Ser)
|
rs1060499688
|
|
NM_024312.5(GNPTAB):c.3602G>A (p.Trp1201Ter)
|
rs1952850511
|
|
NM_024312.5(GNPTAB):c.378dup (p.Glu127fs)
|
rs1555271865
|
|
NM_024312.5(GNPTAB):c.571+4A>T
|
rs1868618470
|
|
NM_024312.5(GNPTAB):c.571G>A (p.Val191Ile)
|
rs751953529
|
|
NM_032520.5(GNPTG):c.110+1G>C
|
rs1555450716
|
|
NM_032520.5(GNPTG):c.233+5G>A
|
rs1060499691
|
|
NM_032520.5(GNPTG):c.318-28_351del
|
rs2034895916
|
|
NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter)
|
rs1060499690
|
|