NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)
|
rs545973022
|
0.00033
|
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val)
|
rs766796504
|
0.00010
|
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val)
|
rs774849517
|
0.00003
|
NM_000093.5(COL5A1):c.1720-11T>A
|
rs863223444
|
0.00001
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
NC_000009.11:g.(?_137582738)_(137593199_?)dup
|
|
|
NC_000009.11:g.(?_137676815)_(137677914_?)del
|
|
|
NM_000093.5(COL5A1):c.110-1G>C
|
rs1833255504
|
|
NM_000093.5(COL5A1):c.1431+1G>A
|
|
|
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys)
|
rs1835194794
|
|
NM_000093.5(COL5A1):c.1433G>C (p.Gly478Ala)
|
|
|
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser)
|
rs878853652
|
|
NM_000093.5(COL5A1):c.1569+1G>A
|
rs2132682690
|
|
NM_000093.5(COL5A1):c.1633C>T (p.Gln545Ter)
|
rs895691193
|
|
NM_000093.5(COL5A1):c.1662+1G>A
|
rs1835753446
|
|
NM_000093.5(COL5A1):c.1720-1G>A
|
rs1835880166
|
|
NM_000093.5(COL5A1):c.1774-1G>A
|
rs2132690733
|
|
NM_000093.5(COL5A1):c.1910G>T (p.Gly637Val)
|
rs777506210
|
|
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)
|
rs1833258579
|
|
NM_000093.5(COL5A1):c.2034+2T>A
|
|
|
NM_000093.5(COL5A1):c.2134-2_2150dup
|
|
|
NM_000093.5(COL5A1):c.2331+1G>A
|
|
|
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys)
|
rs2132747882
|
|
NM_000093.5(COL5A1):c.2429_2430+26del
|
|
|
NM_000093.5(COL5A1):c.2431-1G>A
|
|
|
NM_000093.5(COL5A1):c.2484+1G>T
|
rs1564455577
|
|
NM_000093.5(COL5A1):c.2488G>T (p.Glu830Ter)
|
rs1837403402
|
|
NM_000093.5(COL5A1):c.2512G>A (p.Gly838Arg)
|
|
|
NM_000093.5(COL5A1):c.2700+2T>C
|
rs1588551226
|
|
NM_000093.5(COL5A1):c.2701-1G>A
|
|
|
NM_000093.5(COL5A1):c.278-1G>T
|
|
|
NM_000093.5(COL5A1):c.3006+1G>A
|
|
|
NM_000093.5(COL5A1):c.3114+1G>A
|
rs1838169083
|
|
NM_000093.5(COL5A1):c.3205-1G>C
|
|
|
NM_000093.5(COL5A1):c.3259G>T (p.Gly1087Ter)
|
rs2132830435
|
|
NM_000093.5(COL5A1):c.3379_3382del (p.Pro1127fs)
|
|
|
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg)
|
rs1838467288
|
|
NM_000093.5(COL5A1):c.3529-1G>T
|
rs1588577214
|
|
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)
|
rs786205100
|
|
NM_000093.5(COL5A1):c.3809_3810dup (p.Pro1271fs)
|
rs2132848217
|
|
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys)
|
rs1319735007
|
|
NM_000093.5(COL5A1):c.4014+1G>A
|
rs2132854041
|
|
NM_000093.5(COL5A1):c.4015-1G>A
|
|
|
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
|
rs758337699
|
|
NM_000093.5(COL5A1):c.4069-1G>T
|
rs1564478485
|
|
NM_000093.5(COL5A1):c.4176+1G>T
|
|
|
NM_000093.5(COL5A1):c.4231-2A>G
|
|
|
NM_000093.5(COL5A1):c.4393-1G>A
|
|
|
NM_000093.5(COL5A1):c.4393-4_4398del
|
|
|
NM_000093.5(COL5A1):c.474_491+24del
|
|
|
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp)
|
rs1554781678
|
|
NM_000093.5(COL5A1):c.655-1917_690del
|
|
|
NM_000093.5(COL5A1):c.655-1G>A
|
|
|
NM_000093.5(COL5A1):c.655-2A>G
|
rs786205101
|
|
NM_000093.5(COL5A1):c.655-2A>T
|
rs786205101
|
|
NM_000093.5(COL5A1):c.786+1G>A
|
|
|
NM_000093.5(COL5A1):c.786+5G>T
|
|
|
NM_000093.5(COL5A1):c.849del (p.Glu284fs)
|
rs1588477255
|
|
NM_000093.5(COL5A1):c.925-2A>C
|
rs2132639011
|
|