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
|
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp)
|
rs778379327
|
0.00001
|
NC_000001.10:g.(?_103380260)_(103548528_?)del
|
|
|
NC_000001.10:g.(?_103540154)_(103540356_?)dup
|
|
|
NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter)
|
rs1667208458
|
|
NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer)
|
rs1343199316
|
|
NM_001854.4(COL11A1):c.1350+1G>A
|
rs2101919778
|
|
NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)
|
|
|
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.1630-2del
|
rs1057517989
|
|
NM_001854.4(COL11A1):c.1676G>A (p.Gly559Asp)
|
|
|
NM_001854.4(COL11A1):c.1682A>C (p.Gln561Pro)
|
|
|
NM_001854.4(COL11A1):c.1684-1G>C
|
rs1665610030
|
|
NM_001854.4(COL11A1):c.1791+1G>T
|
rs2101852537
|
|
NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del)
|
rs1557932876
|
|
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.2287G>T (p.Gly763Ter)
|
rs2101794024
|
|
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.2508dup (p.Leu837fs)
|
rs1663313424
|
|
NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val)
|
rs1663311706
|
|
NM_001854.4(COL11A1):c.2702G>A (p.Gly901Glu)
|
|
|
NM_001854.4(COL11A1):c.2709+1G>A
|
|
|
NM_001854.4(COL11A1):c.2752A>G (p.Arg918Gly)
|
rs2101678782
|
|
NM_001854.4(COL11A1):c.2754+5G>A
|
rs1057518666
|
|
NM_001854.4(COL11A1):c.2755-2A>G
|
rs2101653580
|
|
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.2916+1G>A
|
rs2101595036
|
|
NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp)
|
rs1557877041
|
|
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser)
|
rs764282256
|
|
NM_001854.4(COL11A1):c.3168+1G>A
|
rs886042653
|
|
NM_001854.4(COL11A1):c.3169-2A>G
|
|
|
NM_001854.4(COL11A1):c.3276+1G>C
|
rs2101406339
|
|
NM_001854.4(COL11A1):c.3276+1_3276+2insGACA
|
|
|
NM_001854.4(COL11A1):c.3276+5G>A
|
rs2101406246
|
|
NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala)
|
rs1477374848
|
|
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.3492+1_3492+3del
|
|
|
NM_001854.4(COL11A1):c.3512G>A (p.Gly1171Asp)
|
|
|
NM_001854.4(COL11A1):c.3600+1G>A
|
rs2101213034
|
|
NM_001854.4(COL11A1):c.3600+2T>C
|
|
|
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.3655-1G>C
|
rs2101074856
|
|
NM_001854.4(COL11A1):c.3655-2A>G
|
|
|
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)
|
rs750291363
|
|
NM_001854.4(COL11A1):c.3708+2T>C
|
rs2101074452
|
|
NM_001854.4(COL11A1):c.3717del (p.Gly1240fs)
|
rs2101066868
|
|
NM_001854.4(COL11A1):c.3762+2T>C
|
|
|
NM_001854.4(COL11A1):c.3810_3816+2del
|
|
|
NM_001854.4(COL11A1):c.3816+5G>A
|
rs1057524237
|
|
NM_001854.4(COL11A1):c.3883_3892del (p.Ala1295fs)
|
|
|
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.4048_4065del (p.Ser1350_Pro1355del)
|
rs1553200431
|
|
NM_001854.4(COL11A1):c.4140+3A>T
|
rs1553196515
|
|
NM_001854.4(COL11A1):c.4141-2del
|
|
|
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)
|
rs763199410
|
|
NM_001854.4(COL11A1):c.4302+2T>C
|
rs1553196233
|
|
NM_001854.4(COL11A1):c.4303-1G>C
|
|
|
NM_001854.4(COL11A1):c.4323_4340del (p.Leu1442_Gly1447del)
|
|
|
NM_001854.4(COL11A1):c.4356+2T>C
|
rs2100864027
|
|
NM_001854.4(COL11A1):c.4357G>C (p.Gly1453Arg)
|
|
|
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.4547G>T (p.Gly1516Val)
|
rs1553193910
|
|
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
|
|
|