NM_001854.4(COL11A1):c.1245+1G>A
|
rs766849561
|
0.00005
|
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter)
|
rs776004614
|
0.00001
|
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)
|
rs372419698
|
0.00001
|
NC_000001.10:g.(?_103380260)_(103548528_?)del
|
|
|
NC_000001.10:g.(?_103540154)_(103540356_?)dup
|
|
|
NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer)
|
rs1343199316
|
|
NM_001854.4(COL11A1):c.1350+1G>A
|
rs2101919778
|
|
NM_001854.4(COL11A1):c.1572+1G>C
|
rs2101899230
|
|
NM_001854.4(COL11A1):c.1573-1G>T
|
rs2101890748
|
|
NM_001854.4(COL11A1):c.1629+1G>A
|
rs1553234339
|
|
NM_001854.4(COL11A1):c.1629+2T>C
|
rs2101890460
|
|
NM_001854.4(COL11A1):c.162del (p.Ser55fs)
|
rs1571238944
|
|
NM_001854.4(COL11A1):c.1682A>C (p.Gln561Pro)
|
|
|
NM_001854.4(COL11A1):c.1791+1G>T
|
rs2101852537
|
|
NM_001854.4(COL11A1):c.1900-1G>A
|
|
|
NM_001854.4(COL11A1):c.1945-2A>G
|
|
|
NM_001854.4(COL11A1):c.194_197del (p.Lys65fs)
|
rs2102324115
|
|
NM_001854.4(COL11A1):c.2098-2A>C
|
|
|
NM_001854.4(COL11A1):c.2142+2T>C
|
|
|
NM_001854.4(COL11A1):c.2241+1G>C
|
|
|
NM_001854.4(COL11A1):c.2241+5G>T
|
rs2101800665
|
|
NM_001854.4(COL11A1):c.2295+1G>C
|
rs1664585937
|
|
NM_001854.4(COL11A1):c.2369G>A (p.Gly790Asp)
|
rs886044242
|
|
NM_001854.4(COL11A1):c.2386G>C (p.Gly796Arg)
|
rs2101750154
|
|
NM_001854.4(COL11A1):c.2485_2486insAAG (p.Ser828_Gly829insGlu)
|
rs1553227204
|
|
NM_001854.4(COL11A1):c.2792G>A (p.Gly931Glu)
|
rs1557891760
|
|
NM_001854.4(COL11A1):c.2862+2T>A
|
rs2101625861
|
|
NM_001854.4(COL11A1):c.2862+2T>C
|
|
|
NM_001854.4(COL11A1):c.3276+1_3276+2insGACA
|
|
|
NM_001854.4(COL11A1):c.3276+5G>A
|
rs2101406246
|
|
NM_001854.4(COL11A1):c.3385-2A>C
|
|
|
NM_001854.4(COL11A1):c.3438+2T>C
|
|
|
NM_001854.4(COL11A1):c.3438+2T>G
|
rs2101282041
|
|
NM_001854.4(COL11A1):c.3438+2_3438+3del
|
rs1557847904
|
|
NM_001854.4(COL11A1):c.3600+1G>A
|
rs2101213034
|
|
NM_001854.4(COL11A1):c.3601-2A>G
|
|
|
NM_001854.4(COL11A1):c.3601-2A>T
|
|
|
NM_001854.4(COL11A1):c.3627_3635del (p.Lys1209_Glu1211del)
|
|
|
NM_001854.4(COL11A1):c.3647G>A (p.Gly1216Asp)
|
rs1570740272
|
|
NM_001854.4(COL11A1):c.3655-2A>G
|
|
|
NM_001854.4(COL11A1):c.3708+2T>C
|
rs2101074452
|
|
NM_001854.4(COL11A1):c.3717del (p.Gly1240fs)
|
rs2101066868
|
|
NM_001854.4(COL11A1):c.3810_3816+2del
|
|
|
NM_001854.4(COL11A1):c.3816+5G>A
|
rs1057524237
|
|
NM_001854.4(COL11A1):c.3925-2A>G
|
|
|
NM_001854.4(COL11A1):c.3978+1G>C
|
rs1570712889
|
|
NM_001854.4(COL11A1):c.3978+2T>G
|
rs1570712875
|
|
NM_001854.4(COL11A1):c.3998_4009del (p.Gly1333_Gly1336del)
|
rs886042660
|
|
NM_001854.4(COL11A1):c.4002_4010del (p.Asp1334_Gly1336del)
|
rs2101026073
|
|
NM_001854.4(COL11A1):c.4033-1G>C
|
rs2101017052
|
|
NM_001854.4(COL11A1):c.4141-2del
|
|
|
NM_001854.4(COL11A1):c.4302+2T>C
|
rs1553196233
|
|
NM_001854.4(COL11A1):c.4356+2T>C
|
rs2100864027
|
|
NM_001854.4(COL11A1):c.4518+1G>A
|
|
|
NM_001854.4(COL11A1):c.4537G>A (p.Gly1513Ser)
|
|
|
NM_001854.4(COL11A1):c.4538G>A (p.Gly1513Asp)
|
rs1553193913
|
|
NM_001854.4(COL11A1):c.4554+1G>C
|
rs886044244
|
|
NM_001854.4(COL11A1):c.4565G>T (p.Gly1522Val)
|
rs1651323625
|
|
NM_001854.4(COL11A1):c.4592G>C (p.Gly1531Ala)
|
rs2100851333
|
|
NM_001854.4(COL11A1):c.4660dup (p.Thr1554fs)
|
rs1570630126
|
|
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg)
|
rs1672165764
|
|
NM_001854.4(COL11A1):c.652-1G>C
|
rs1064797115
|
|
NM_001854.4(COL11A1):c.780+1G>T
|
|
|
NM_001854.4(COL11A1):c.867del (p.Thr289_Val290insTer)
|
rs1571079651
|
|
NM_001854.4(COL11A1):c.990+1G>T
|
|
|