NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)
|
rs137964147
|
0.00057
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp)
|
rs373072443
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)
|
rs749593004
|
0.00001
|
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg)
|
rs779867653
|
0.00001
|
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)
|
rs771941724
|
0.00001
|
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
|
|
|
NM_001848.3(COL6A1):c.1483C>T (p.Pro495Ser)
|
rs1569518677
|
|
NM_001848.3(COL6A1):c.1575+1G>A
|
rs1002726737
|
|
NM_001848.3(COL6A1):c.1813+2_1813+3del
|
rs2077836463
|
|
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)
|
rs1471465037
|
|
NM_001848.3(COL6A1):c.787G>T (p.Gly263Cys)
|
rs1569517943
|
|
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)
|
rs1603590649
|
|
NM_001848.3(COL6A1):c.904-39A>G
|
rs1569518138
|
|
NM_001848.3(COL6A1):c.928_930del (p.Lys310del)
|
rs886043114
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
NM_001849.4(COL6A2):c.-27-3C>G
|
rs1288520983
|
|
NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)
|
|
|
NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter)
|
rs986393872
|
|
NM_001849.4(COL6A2):c.1179+1G>T
|
|
|
NM_001849.4(COL6A2):c.2040dup (p.Ile681fs)
|
rs886039905
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys)
|
rs150168522
|
|
NM_001849.4(COL6A2):c.928-2A>G
|
rs1440070681
|
|
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)
|
rs761796175
|
|
NM_004369.4(COL6A3):c.6157-1G>A
|
|
|
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
|
|
|
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
|
|
|
NM_004369.4(COL6A3):c.6283-2A>C
|
rs797044988
|
|
NM_004369.4(COL6A3):c.6309+3A>G
|
rs1553553327
|
|
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
|
|
|
NM_004369.4(COL6A3):c.7669-2del
|
rs764193290
|
|
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs)
|
rs2106319784
|
|
NM_004369.4(COL6A3):c.9047dup (p.Pro3017fs)
|
|
|
NM_004369.4(COL6A3):c.9175del (p.Val3059fs)
|
|
|
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)
|
rs755536829
|
|