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.3241G>C (p.Gly1081Arg)
|
rs397514455
|
0.00001
|
GRCh38/hg38 1p21.1(chr1:102915924-102966355)x1
|
|
|
NC_000001.10:g.(?_103343575)_(103573734_?)del
|
|
|
NC_000001.10:g.(?_103345219)_(103356080_?)del
|
|
|
NC_000001.10:g.(?_103377695)_(103381260_?)del
|
|
|
NC_000001.10:g.(?_103377695)_(103412532_?)del
|
|
|
NC_000001.10:g.(?_103388872)_(103388965_?)del
|
|
|
NC_000001.10:g.(?_103412385)_(103449767_?)del
|
|
|
NC_000001.10:g.(?_103427402)_(103573734_?)del
|
|
|
NM_001854.4(COL11A1):c.1162G>T (p.Glu388Ter)
|
|
|
NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer)
|
rs1343199316
|
|
NM_001854.4(COL11A1):c.1191del (p.Asn398fs)
|
|
|
NM_001854.4(COL11A1):c.1630-1G>C
|
rs2101869722
|
|
NM_001854.4(COL11A1):c.1630-1G>T
|
|
|
NM_001854.4(COL11A1):c.1630-2del
|
rs1057517989
|
|
NM_001854.4(COL11A1):c.1685G>A (p.Gly562Asp)
|
rs886039743
|
|
NM_001854.4(COL11A1):c.1737+2T>G
|
|
|
NM_001854.4(COL11A1):c.1786dup (p.Ala596fs)
|
rs730882190
|
|
NM_001854.4(COL11A1):c.1791+1del
|
|
|
NM_001854.4(COL11A1):c.1852C>T (p.Arg618Ter)
|
rs1469521034
|
|
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val)
|
rs121912943
|
|
NM_001854.4(COL11A1):c.1900-2A>G
|
|
|
NM_001854.4(COL11A1):c.2024del (p.Pro675fs)
|
|
|
NM_001854.4(COL11A1):c.2149C>T (p.Gln717Ter)
|
|
|
NM_001854.4(COL11A1):c.2156_2157insT (p.Lys719fs)
|
rs1274185001
|
|
NM_001854.4(COL11A1):c.2193_2194dup (p.Pro732fs)
|
rs745956910
|
|
NM_001854.4(COL11A1):c.2324G>A (p.Gly775Glu)
|
|
|
NM_001854.4(COL11A1):c.2335G>T (p.Glu779Ter)
|
|
|
NM_001854.4(COL11A1):c.2350G>C (p.Gly784Arg)
|
rs387906611
|
|
NM_001854.4(COL11A1):c.2452C>T (p.Arg818Ter)
|
|
|
NM_001854.4(COL11A1):c.254del (p.Pro85fs)
|
|
|
NM_001854.4(COL11A1):c.2580del (p.Pro861fs)
|
|
|
NM_001854.4(COL11A1):c.2603G>A (p.Gly868Asp)
|
rs2101683875
|
|
NM_001854.4(COL11A1):c.2611-2A>T
|
|
|
NM_001854.4(COL11A1):c.2662C>T (p.Arg888Ter)
|
rs748815162
|
|
NM_001854.4(COL11A1):c.2707A>T (p.Lys903Ter)
|
|
|
NM_001854.4(COL11A1):c.2754+5G>A
|
rs1057518666
|
|
NM_001854.4(COL11A1):c.2755-2A>G
|
rs2101653580
|
|
NM_001854.4(COL11A1):c.2808+1G>A
|
rs1553223152
|
|
NM_001854.4(COL11A1):c.2808+1G>C
|
|
|
NM_001854.4(COL11A1):c.2808+2del
|
|
|
NM_001854.4(COL11A1):c.2808+3_2808+6del
|
rs2101652956
|
|
NM_001854.4(COL11A1):c.2809-1G>A
|
|
|
NM_001854.4(COL11A1):c.2809-2A>C
|
|
|
NM_001854.4(COL11A1):c.2809-2A>G
|
rs1661835277
|
|
NM_001854.4(COL11A1):c.2809-3C>G
|
|
|
NM_001854.4(COL11A1):c.2916+1G>A
|
rs2101595036
|
|
NM_001854.4(COL11A1):c.2927G>T (p.Gly976Val)
|
rs121912944
|
|
NM_001854.4(COL11A1):c.3168+1G>A
|
rs886042653
|
|
NM_001854.4(COL11A1):c.3168+1G>T
|
rs886042653
|
|
NM_001854.4(COL11A1):c.3168+2_3168+12del
|
rs1570877567
|
|
NM_001854.4(COL11A1):c.3292C>T (p.Gln1098Ter)
|
rs2101305801
|
|
NM_001854.4(COL11A1):c.3438+2_3438+3del
|
rs1557847904
|
|
NM_001854.4(COL11A1):c.3655-2del
|
rs2101074868
|
|
NM_001854.4(COL11A1):c.3709-1G>A
|
rs727503881
|
|
NM_001854.4(COL11A1):c.3717del (p.Gly1240fs)
|
rs2101066868
|
|
NM_001854.4(COL11A1):c.3740C>G (p.Ser1247Ter)
|
rs1655833195
|
|
NM_001854.4(COL11A1):c.3762+2T>G
|
|
|
NM_001854.4(COL11A1):c.3763-2A>C
|
|
|
NM_001854.4(COL11A1):c.3814_3816+1del
|
rs2101038943
|
|
NM_001854.4(COL11A1):c.3816+1G>A
|
rs398122828
|
|
NM_001854.4(COL11A1):c.3816+1G>C
|
rs398122828
|
|
NM_001854.4(COL11A1):c.3816+1G>T
|
|
|
NM_001854.4(COL11A1):c.3816+2dup
|
rs1469787406
|
|
NM_001854.4(COL11A1):c.3816+5G>A
|
rs1057524237
|
|
NM_001854.4(COL11A1):c.3939del (p.Pro1314fs)
|
|
|
NM_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter)
|
rs1557812993
|
|
NM_001854.4(COL11A1):c.3978+1G>A
|
rs1570712889
|
|
NM_001854.4(COL11A1):c.4032+1G>A
|
rs1553200868
|
|
NM_001854.4(COL11A1):c.4067_4068del (p.Pro1356fs)
|
|
|
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter)
|
rs755987732
|
|
NM_001854.4(COL11A1):c.4131del (p.Gly1378fs)
|
rs2100925460
|
|
NM_001854.4(COL11A1):c.4302+2T>C
|
rs1553196233
|
|
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter)
|
rs866783525
|
|
NM_001854.4(COL11A1):c.4417C>T (p.Arg1473Ter)
|
|
|
NM_001854.4(COL11A1):c.4519-2A>G
|
rs2100852410
|
|
NM_001854.4(COL11A1):c.4519-2del
|
rs2100852418
|
|
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>A (p.Gly1522Asp)
|
|
|
NM_001854.4(COL11A1):c.4813C>T (p.Arg1605Ter)
|
|
|
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg)
|
rs1672165764
|
|
NM_001854.4(COL11A1):c.4882C>T (p.Gln1628Ter)
|
|
|
NM_001854.4(COL11A1):c.494A>T (p.His165Leu)
|
rs2102282139
|
|
NM_001854.4(COL11A1):c.4985C>G (p.Ser1662Ter)
|
rs956233074
|
|
NM_001854.4(COL11A1):c.5009_5013del (p.Ser1670fs)
|
rs2101017789
|
|
NM_001854.4(COL11A1):c.5033dup (p.Leu1680fs)
|
|
|
NM_001854.4(COL11A1):c.652-1G>C
|
rs1064797115
|
|
NM_001854.4(COL11A1):c.652-2A>C
|
rs747787770
|
|
NM_001854.4(COL11A1):c.729_730del (p.Cys243_Asp244delinsTer)
|
|
|
NM_001854.4(COL11A1):c.781-70T>G
|
rs587782990
|
|
NM_001854.4(COL11A1):c.802G>T (p.Glu268Ter)
|
|
|
NM_001854.4(COL11A1):c.830_831dup (p.Tyr278fs)
|
|
|
NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC
|
|
|