NM_032888.4(COL27A1):c.1962+1G>A
|
rs1387536593
|
0.00001
|
NM_032888.4(COL27A1):c.3249+1G>T
|
rs747841271
|
0.00001
|
NM_032888.4(COL27A1):c.4809+1G>C
|
rs766405509
|
0.00001
|
NC_000009.11:g.(?_117044259)_(117046337_?)del
|
|
|
NM_032888.4(COL27A1):c.1908+1G>A
|
|
|
NM_032888.4(COL27A1):c.1963-2A>G
|
|
|
NM_032888.4(COL27A1):c.2016+2_2016+3del
|
|
|
NM_032888.4(COL27A1):c.2026G>A (p.Gly676Arg)
|
rs2135241121
|
|
NM_032888.4(COL27A1):c.2071-2A>G
|
rs1829092348
|
|
NM_032888.4(COL27A1):c.2124+2T>C
|
|
|
NM_032888.4(COL27A1):c.2125-2del
|
|
|
NM_032888.4(COL27A1):c.2169+1G>T
|
|
|
NM_032888.4(COL27A1):c.2169+2T>A
|
|
|
NM_032888.4(COL27A1):c.2268+1G>A
|
|
|
NM_032888.4(COL27A1):c.2268+1G>T
|
|
|
NM_032888.4(COL27A1):c.2269-2A>G
|
|
|
NM_032888.4(COL27A1):c.2367+2T>C
|
rs2135336813
|
|
NM_032888.4(COL27A1):c.2367G>A (p.Pro789=)
|
rs1830319943
|
|
NM_032888.4(COL27A1):c.2466+1G>T
|
rs1831165670
|
|
NM_032888.4(COL27A1):c.2521-2A>C
|
rs2135433834
|
|
NM_032888.4(COL27A1):c.2565+1G>A
|
|
|
NM_032888.4(COL27A1):c.2619+1G>T
|
|
|
NM_032888.4(COL27A1):c.2880+1G>A
|
rs1832811905
|
|
NM_032888.4(COL27A1):c.2980-2A>G
|
rs2135522530
|
|
NM_032888.4(COL27A1):c.3033+2T>G
|
|
|
NM_032888.4(COL27A1):c.3142-1G>A
|
|
|
NM_032888.4(COL27A1):c.3195+2T>G
|
|
|
NM_032888.4(COL27A1):c.3196-1G>A
|
rs1588816777
|
|
NM_032888.4(COL27A1):c.3250-2A>G
|
rs2135594065
|
|
NM_032888.4(COL27A1):c.3339+2T>C
|
|
|
NM_032888.4(COL27A1):c.3447+2T>C
|
|
|
NM_032888.4(COL27A1):c.3609+1G>T
|
rs2135633751
|
|
NM_032888.4(COL27A1):c.3609+2T>A
|
|
|
NM_032888.4(COL27A1):c.3610-2A>G
|
rs2135665946
|
|
NM_032888.4(COL27A1):c.3771+2T>C
|
rs1436944837
|
|
NM_032888.4(COL27A1):c.3771+2_3771+3delinsAG
|
rs2135702107
|
|
NM_032888.4(COL27A1):c.4207-2del
|
|
|
NM_032888.4(COL27A1):c.4369-2_4369-1del
|
rs2131627071
|
|
NM_032888.4(COL27A1):c.4584+2T>A
|
|
|
NM_032888.4(COL27A1):c.4584+2T>C
|
|
|
NM_032888.4(COL27A1):c.4809+1G>A
|
|
|
NM_032888.4(COL27A1):c.4846-2A>G
|
rs2131667389
|
|
NM_032888.4(COL27A1):c.4938+1G>A
|
rs1432130710
|
|
NM_032888.4(COL27A1):c.4938+1G>C
|
rs1432130710
|
|
NM_032888.4(COL27A1):c.4938+1G>T
|
rs1432130710
|
|
NM_032888.4(COL27A1):c.4938+2T>C
|
rs1828901917
|
|
NM_032888.4(COL27A1):c.4938+2_4938+15del
|
rs2131678418
|
|
NM_032888.4(COL27A1):c.5217+1G>A
|
|
|
NM_032888.4(COL27A1):c.62+1G>C
|
rs1848097390
|
|
NM_032888.4(COL27A1):c.62+1G>T
|
rs1848097390
|
|
NM_032888.4(COL27A1):c.63-1G>A
|
rs2135027384
|
|
NM_032888.4(COL27A1):c.63-3_77del
|
|
|