NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)
|
rs121912952
|
0.00004
|
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)
|
rs911722283
|
0.00002
|
NM_080680.3(COL11A2):c.2554C>T (p.Arg852Ter)
|
rs1387164225
|
0.00001
|
NM_080680.3(COL11A2):c.272G>A (p.Arg91Gln)
|
rs763766268
|
0.00001
|
NM_080680.3(COL11A2):c.3958C>T (p.Arg1320Ter)
|
rs1206475365
|
0.00001
|
NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)
|
rs121912951
|
0.00001
|
NM_080680.3(COL11A2):c.4392+1G>A
|
rs750995470
|
0.00001
|
NM_080680.3(COL11A2):c.1019dup (p.Pro340_Glu341insTer)
|
|
|
NM_080680.3(COL11A2):c.1020del (p.Glu341fs)
|
|
|
NM_080680.3(COL11A2):c.1076_1077del (p.Glu359fs)
|
|
|
NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser)
|
rs606231410
|
|
NM_080680.3(COL11A2):c.1135C>T (p.Arg379Ter)
|
rs1417182811
|
|
NM_080680.3(COL11A2):c.1218_1221dup (p.Gly408fs)
|
|
|
NM_080680.3(COL11A2):c.1292del (p.Pro431fs)
|
rs1583351636
|
|
NM_080680.3(COL11A2):c.1297C>T (p.Arg433Ter)
|
|
|
NM_080680.3(COL11A2):c.1586del (p.Gly529fs)
|
|
|
NM_080680.3(COL11A2):c.1606C>T (p.Arg536Ter)
|
|
|
NM_080680.3(COL11A2):c.1636C>T (p.Arg546Ter)
|
rs149697159
|
|
NM_080680.3(COL11A2):c.1672C>T (p.Arg558Ter)
|
|
|
NM_080680.3(COL11A2):c.170_171del (p.Asp57fs)
|
|
|
NM_080680.3(COL11A2):c.1719+1dup
|
rs2150577320
|
|
NM_080680.3(COL11A2):c.171dup (p.Val58fs)
|
|
|
NM_080680.3(COL11A2):c.1755del (p.Gly586fs)
|
|
|
NM_080680.3(COL11A2):c.181C>T (p.Arg61Ter)
|
|
|
NM_080680.3(COL11A2):c.1871dup (p.Gly625fs)
|
rs1455983505
|
|
NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter)
|
rs374156844
|
|
NM_080680.3(COL11A2):c.190C>T (p.Arg64Ter)
|
rs1554226209
|
|
NM_080680.3(COL11A2):c.1924C>T (p.Gln642Ter)
|
|
|
NM_080680.3(COL11A2):c.1928_1937del (p.Gly643fs)
|
|
|
NM_080680.3(COL11A2):c.1957del (p.Thr653fs)
|
rs2150572816
|
|
NM_080680.3(COL11A2):c.1962del (p.Thr656fs)
|
|
|
NM_080680.3(COL11A2):c.1981G>A (p.Gly661Arg)
|
rs121912945
|
|
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs)
|
rs886044584
|
|
NM_080680.3(COL11A2):c.2086del (p.Glu696fs)
|
|
|
NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs)
|
rs1583335192
|
|
NM_080680.3(COL11A2):c.20_21del (p.Cys7fs)
|
|
|
NM_080680.3(COL11A2):c.2158C>T (p.Arg720Ter)
|
|
|
NM_080680.3(COL11A2):c.2194A>T (p.Lys732Ter)
|
|
|
NM_080680.3(COL11A2):c.2423G>A (p.Gly808Glu)
|
rs121912948
|
|
NM_080680.3(COL11A2):c.2492C>A (p.Ser831Ter)
|
rs121912949
|
|
NM_080680.3(COL11A2):c.2540del (p.Gly847fs)
|
rs2150558601
|
|
NM_080680.3(COL11A2):c.2542C>T (p.Gln848Ter)
|
|
|
NM_080680.3(COL11A2):c.2597dup (p.Gly866_Asp867insTer)
|
|
|
NM_080680.3(COL11A2):c.2638G>T (p.Gly880Ter)
|
|
|
NM_080680.3(COL11A2):c.2658del (p.Pro888fs)
|
|
|
NM_080680.3(COL11A2):c.2662C>A (p.Pro888Thr)
|
rs864309523
|
|
NM_080680.3(COL11A2):c.2690del (p.Pro897fs)
|
rs2150555528
|
|
NM_080680.3(COL11A2):c.2762dup (p.Gly922fs)
|
|
|
NM_080680.3(COL11A2):c.2763del (p.Gly922fs)
|
|
|
NM_080680.3(COL11A2):c.2822_2848del (p.Glu941_Pro950delinsAla)
|
rs864309477
|
|
NM_080680.3(COL11A2):c.2902_2910del (p.Asp968_Gly970del)
|
rs2150551158
|
|
NM_080680.3(COL11A2):c.2970_2971del (p.Gly991fs)
|
|
|
NM_080680.3(COL11A2):c.3032del (p.Pro1011fs)
|
rs1363500354
|
|
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys)
|
rs121912947
|
|
NM_080680.3(COL11A2):c.3133G>T (p.Gly1045Ter)
|
|
|
NM_080680.3(COL11A2):c.3150+5G>A
|
|
|
NM_080680.3(COL11A2):c.3181C>T (p.Arg1061Ter)
|
|
|
NM_080680.3(COL11A2):c.328C>T (p.Arg110Ter)
|
rs903118000
|
|
NM_080680.3(COL11A2):c.3329dup (p.Gly1111fs)
|
|
|
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg)
|
rs550153707
|
|
NM_080680.3(COL11A2):c.339_340delinsG (p.Leu114fs)
|
rs1554225999
|
|
NM_080680.3(COL11A2):c.3496G>T (p.Glu1166Ter)
|
rs1448700521
|
|
NM_080680.3(COL11A2):c.352C>T (p.Arg118Ter)
|
|
|
NM_080680.3(COL11A2):c.3545del (p.Pro1182fs)
|
rs766211536
|
|
NM_080680.3(COL11A2):c.3666del (p.Ile1223fs)
|
|
|
NM_080680.3(COL11A2):c.3833dup (p.Gly1279fs)
|
|
|
NM_080680.3(COL11A2):c.3877C>T (p.Arg1293Ter)
|
rs746754428
|
|
NM_080680.3(COL11A2):c.3928del (p.Glu1310fs)
|
|
|
NM_080680.3(COL11A2):c.3962del
|
rs1562315748
|
|
NM_080680.3(COL11A2):c.4123-1G>T
|
rs2150524851
|
|
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)
|
rs121912950
|
|
NM_080680.3(COL11A2):c.4204_4205insC (p.Gly1402fs)
|
|
|
NM_080680.3(COL11A2):c.4205_4208del (p.Gly1402fs)
|
|
|
NM_080680.3(COL11A2):c.4265dup (p.Gly1423_Glu1424insTer)
|
rs1213117443
|
|
NM_080680.3(COL11A2):c.4322G>A (p.Gly1441Glu)
|
rs121912946
|
|
NM_080680.3(COL11A2):c.4323_4324delinsTT (p.Gln1442Ter)
|
|
|
NM_080680.3(COL11A2):c.4450G>T (p.Glu1484Ter)
|
|
|
NM_080680.3(COL11A2):c.4465G>A (p.Gly1489Ser)
|
rs1583287711
|
|
NM_080680.3(COL11A2):c.4515dup (p.Ile1506fs)
|
|
|
NM_080680.3(COL11A2):c.4519C>T (p.Gln1507Ter)
|
rs377656039
|
|
NM_080680.3(COL11A2):c.4649del (p.Leu1550fs)
|
|
|
NM_080680.3(COL11A2):c.470_471del (p.Lys157fs)
|
|
|
NM_080680.3(COL11A2):c.473dup (p.Gln159fs)
|
|
|
NM_080680.3(COL11A2):c.4758C>G (p.Tyr1586Ter)
|
|
|
NM_080680.3(COL11A2):c.4760G>A (p.Trp1587Ter)
|
|
|
NM_080680.3(COL11A2):c.4789del (p.Asp1597fs)
|
|
|
NM_080680.3(COL11A2):c.4798C>T (p.Arg1600Ter)
|
|
|
NM_080680.3(COL11A2):c.4811del (p.Asn1604fs)
|
|
|
NM_080680.3(COL11A2):c.508C>T (p.Arg170Ter)
|
|
|
NM_080680.3(COL11A2):c.519del (p.Pro174fs)
|
|
|
NM_080680.3(COL11A2):c.527_533dup (p.Ala179fs)
|
|
|
NM_080680.3(COL11A2):c.529C>T (p.Arg177Ter)
|
rs764450149
|
|
NM_080680.3(COL11A2):c.660_661del (p.Ser220_Cys221insTer)
|
|
|
NM_080680.3(COL11A2):c.67dup (p.Ala23fs)
|
rs1583394539
|
|
NM_080680.3(COL11A2):c.745C>T (p.Gln249Ter)
|
|
|
NM_080680.3(COL11A2):c.811_814del (p.Leu271fs)
|
|
|
NM_080680.3(COL11A2):c.813_814del (p.Tyr272fs)
|
|
|
NM_080680.3(COL11A2):c.834dup (p.Tyr279fs)
|
|
|
NM_080680.3(COL11A2):c.874C>T (p.Gln292Ter)
|
|
|
NM_080680.3(COL11A2):c.966del (p.Thr323fs)
|
|
|
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)
|
rs748440351
|
|
NM_080680.3(COL11A2):c.967dup (p.Thr323fs)
|
rs774545390
|
|