NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg)
|
rs376923069
|
0.00003
|
NM_002230.4(JUP):c.902A>G (p.Glu301Gly)
|
rs782058451
|
0.00002
|
NM_002230.4(JUP):c.208+1G>A
|
rs373761090
|
0.00001
|
NM_004415.4(DSP):c.2436+2T>C
|
rs774514264
|
0.00001
|
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)
|
rs767643821
|
0.00001
|
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)
|
rs1561703331
|
0.00001
|
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)
|
rs1464253797
|
0.00001
|
NC_000006.11:g.(?_7552967)_(7579627_?)del
|
|
|
NC_000006.11:g.(?_7565582)_(7568149_?)del
|
|
|
NC_000006.11:g.(?_7576220)_(7581055_?)del
|
|
|
NM_002230.4(JUP):c.1158+1G>T
|
rs2143591648
|
|
NM_002230.4(JUP):c.1654-2A>G
|
|
|
NM_002230.4(JUP):c.1924+1G>A
|
rs1597781765
|
|
NM_002230.4(JUP):c.468G>A (p.Pro156=)
|
rs886037753
|
|
NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
|
|
|
NM_004415.4(DSP):c.1045-1G>C
|
|
|
NM_004415.4(DSP):c.1141-1G>A
|
rs2113673067
|
|
NM_004415.4(DSP):c.1267-2A>G
|
rs1554106830
|
|
NM_004415.4(DSP):c.1420-1G>T
|
rs1060500609
|
|
NM_004415.4(DSP):c.1420-2A>G
|
|
|
NM_004415.4(DSP):c.1574+1G>A
|
rs1758971797
|
|
NM_004415.4(DSP):c.1574+1G>C
|
rs1758971797
|
|
NM_004415.4(DSP):c.169_170+13del
|
rs2113629234
|
|
NM_004415.4(DSP):c.170+1G>A
|
rs1309931610
|
|
NM_004415.4(DSP):c.1701+2T>C
|
|
|
NM_004415.4(DSP):c.1702-1G>T
|
|
|
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu)
|
rs606231294
|
|
NM_004415.4(DSP):c.1853A>C (p.His618Pro)
|
rs1554107096
|
|
NM_004415.4(DSP):c.1903+1G>T
|
|
|
NM_004415.4(DSP):c.1904-2A>G
|
rs2113679702
|
|
NM_004415.4(DSP):c.2130+1G>A
|
rs727505115
|
|
NM_004415.4(DSP):c.2290_2291dup (p.Leu764fs)
|
|
|
NM_004415.4(DSP):c.2297+2T>C
|
rs796218194
|
|
NM_004415.4(DSP):c.2298-1G>C
|
rs1417627909
|
|
NM_004415.4(DSP):c.2298-2A>C
|
rs1759176299
|
|
NM_004415.4(DSP):c.2436+1G>A
|
rs2113684305
|
|
NM_004415.4(DSP):c.2437-1G>C
|
rs1057517903
|
|
NM_004415.4(DSP):c.2611_2614del (p.Asp871fs)
|
rs1265117085
|
|
NM_004415.4(DSP):c.273+1G>A
|
rs794728106
|
|
NM_004415.4(DSP):c.2793+1G>T
|
rs1554107741
|
|
NM_004415.4(DSP):c.2794-1G>A
|
rs1759258675
|
|
NM_004415.4(DSP):c.2877+1G>A
|
rs2113687794
|
|
NM_004415.4(DSP):c.2877+2T>C
|
rs2113687807
|
|
NM_004415.4(DSP):c.3959_3962del (p.Ile1320fs)
|
|
|
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)
|
rs1561698362
|
|
NM_004415.4(DSP):c.422+1G>A
|
|
|
NM_004415.4(DSP):c.422+2T>G
|
rs2113657846
|
|
NM_004415.4(DSP):c.423-1G>T
|
rs1304410089
|
|
NM_004415.4(DSP):c.423-2A>G
|
rs2113659544
|
|
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)
|
rs1554108410
|
|
NM_004415.4(DSP):c.5428del (p.Gln1810fs)
|
rs2113697846
|
|
NM_004415.4(DSP):c.597+1G>A
|
rs2113660108
|
|
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
|
rs1561702640
|
|
NM_004415.4(DSP):c.7097G>A (p.Arg2366His)
|
rs387906618
|
|
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter)
|
rs2113701867
|
|
NM_004415.4(DSP):c.777+2T>C
|
|
|
NM_004415.4(DSP):c.778-2A>G
|
rs113726158
|
|
NM_004415.4(DSP):c.818dup (p.Asn274fs)
|
rs1758828554
|
|
NM_004415.4(DSP):c.928dup (p.Glu310fs)
|
rs794728137
|
|
NM_004415.4(DSP):c.940-2del
|
rs2113670901
|
|
NM_004415.4(DSP):c.967G>C (p.Glu323Gln)
|
rs1057522287
|
|