|
NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp)
|
rs780400029
|
0.00004
|
|
NM_000093.5(COL5A1):c.4392+8A>G
|
rs764596365
|
0.00003
|
|
NM_000093.5(COL5A1):c.3960C>T (p.Ala1320=)
|
rs1057524173
|
0.00002
|
|
NM_000093.5(COL5A1):c.4739C>T (p.Ala1580Val)
|
rs528826181
|
0.00002
|
|
NM_000093.5(COL5A1):c.1462C>T (p.Pro488Ser)
|
rs1238395732
|
0.00001
|
|
NM_000393.5(COL5A2):c.2344A>G (p.Ile782Val)
|
rs1270917752
|
0.00001
|
|
NC_000002.12:g.(?_188974480)_(189580648_?)del
|
|
|
|
NC_000002.12:g.(?_189078506)_(189081053_?)del
|
|
|
|
NC_000002.12:g.(?_189100087)_(189100159_?)del
|
|
|
|
NC_000009.11:g.(?_134379574)_(138678377_?)dup
|
|
|
|
NC_000009.11:g.(?_137533651)_(137534142_?)dup
|
|
|
|
NC_000009.11:g.(?_137582738)_(137593199_?)dup
|
|
|
|
NC_000009.11:g.(?_137721802)_(137734169_?)dup
|
|
|
|
NC_000009.12:g.(?_134642178)_(134701343_?)del
|
|
|
|
NC_000009.12:g.(?_134642178)_(134768473_?)del
|
|
|
|
NC_000009.12:g.(?_134690892)_(134691099_?)del
|
|
|
|
NC_000009.12:g.(?_134690892)_(134763757_?)del
|
|
|
|
NC_000009.12:g.(?_134690902)_(134727407_?)del
|
|
|
|
NC_000009.12:g.(?_134699889)_(134700142_?)del
|
|
|
|
NC_000009.12:g.(?_134701171)_(134835204_?)del
|
|
|
|
NC_000009.12:g.(?_134727246)_(134728827_?)del
|
|
|
|
NC_000009.12:g.(?_134752569)_(134752665_?)del
|
|
|
|
NC_000009.12:g.(?_134782657)_(134842313_?)del
|
|
|
|
NC_000009.12:g.(?_134789143)_(134789218_?)dup
|
|
|
|
NC_000009.12:g.(?_134834951)_(134835224_?)del
|
|
|
|
NC_000009.12:g.(?_134842137)_(134842323_?)del
|
|
|
|
NC_000009.12:g.(?_134842147)_(134842313_?)del
|
|
|
|
NM_000093.5(COL5A1):c.1441G>A (p.Gly481Arg)
|
rs1835194865
|
|
|
NM_000093.5(COL5A1):c.1720-136_1929del
|
|
|
|
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter)
|
rs1554796176
|
|
|
NM_000093.5(COL5A1):c.3114+1G>A
|
rs1838169083
|
|
|
NM_000093.5(COL5A1):c.4447G>T (p.Gly1483Cys)
|
rs1554806963
|
|
|
NM_000093.5(COL5A1):c.459C>T (p.Pro153=)
|
rs1588448882
|
|
|
NM_000093.5(COL5A1):c.5155G>T (p.Glu1719Ter)
|
rs776640704
|
|
|
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter)
|
rs1057518004
|
|
|
NM_000093.5(COL5A1):c.655-1917_690del
|
|
|
|
NM_000093.5(COL5A1):c.710G>A (p.Cys237Tyr)
|
rs1588475947
|
|
|
NM_000393.5(COL5A2):c.1186G>C (p.Gly396Arg)
|
rs1686209873
|
|
|
NM_000393.5(COL5A2):c.1332_1349del (p.Ala446_Ser451del)
|
rs1686191596
|
|
|
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs)
|
rs1685782021
|
|
|
NM_000393.5(COL5A2):c.3103G>A (p.Gly1035Arg)
|
rs1685735868
|
|
|
NM_000393.5(COL5A2):c.4069A>T (p.Asn1357Tyr)
|
rs1157866285
|
|
|
NM_000393.5(COL5A2):c.668C>T (p.Pro223Leu)
|
rs201941612
|
|
|
Single allele
|
|
|