NM_000088.4(COL1A1):c.1354-12G>A
|
rs72648337
|
0.00001
|
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)
|
rs72651642
|
0.00001
|
NM_000088.3(COL1A1):c.[1601T>A];[1608_1614+25del]
|
|
|
NM_000088.4(COL1A1):c.1002+2T>C
|
rs786205507
|
|
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter)
|
rs72645366
|
|
NM_000088.4(COL1A1):c.1086_1102del (p.Ser363fs)
|
rs1555574154
|
|
NM_000088.4(COL1A1):c.111_117del (p.Ile38fs)
|
rs1114167384
|
|
NM_000088.4(COL1A1):c.1127dup (p.Gly377fs)
|
rs72645369
|
|
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter)
|
rs72648326
|
|
NM_000088.4(COL1A1):c.1261del (p.Gln421fs)
|
rs1114167385
|
|
NM_000088.4(COL1A1):c.1269del (p.Gly424fs)
|
rs1114167374
|
|
NM_000088.4(COL1A1):c.1292del (p.Gly431fs)
|
rs1114167375
|
|
NM_000088.4(COL1A1):c.1299+1G>A
|
rs66490707
|
|
NM_000088.4(COL1A1):c.1379del (p.Pro460fs)
|
rs1114167377
|
|
NM_000088.4(COL1A1):c.1611del (p.Lys538fs)
|
rs1114167387
|
|
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)
|
rs67507747
|
|
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter)
|
rs72651614
|
|
NM_000088.4(COL1A1):c.1821+1G>A
|
rs66555264
|
|
NM_000088.4(COL1A1):c.2091_2092del (p.Ala699fs)
|
rs1114167389
|
|
NM_000088.4(COL1A1):c.2343+1G>A
|
rs1114167378
|
|
NM_000088.4(COL1A1):c.2424dup (p.Gly809fs)
|
rs1114167391
|
|
NM_000088.4(COL1A1):c.2525del (p.Gly842fs)
|
rs1114167392
|
|
NM_000088.4(COL1A1):c.2549del (p.Pro850fs)
|
rs1114167379
|
|
NM_000088.4(COL1A1):c.2550del (p.Gly851fs)
|
rs1114167380
|
|
NM_000088.4(COL1A1):c.2667+3_2667+6del
|
rs1114167393
|
|
NM_000088.4(COL1A1):c.2668-1G>A
|
rs1114167394
|
|
NM_000088.4(COL1A1):c.2881del (p.Val961fs)
|
rs1114167381
|
|
NM_000088.4(COL1A1):c.2934del (p.Ser979fs)
|
rs1114167395
|
|
NM_000088.4(COL1A1):c.3026del (p.Pro1009fs)
|
rs1114167396
|
|
NM_000088.4(COL1A1):c.3045+1G>A
|
rs1114167382
|
|
NM_000088.4(COL1A1):c.3233_3236del (p.Val1078fs)
|
rs1114167398
|
|
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser)
|
rs72654802
|
|
NM_000088.4(COL1A1):c.333+2T>C
|
rs72667012
|
|
NM_000088.4(COL1A1):c.3424-6C>G
|
rs370865189
|
|
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)
|
rs67815019
|
|
NM_000088.4(COL1A1):c.3567del (p.Gly1190fs)
|
rs886042286
|
|
NM_000088.4(COL1A1):c.3607C>T (p.Gln1203Ter)
|
rs1114167399
|
|
NM_000088.4(COL1A1):c.3748_3752dup (p.Ser1251fs)
|
rs1114167400
|
|
NM_000088.4(COL1A1):c.3788del (p.Lys1263fs)
|
rs1114167401
|
|
NM_000088.4(COL1A1):c.3790A>G (p.Met1264Val)
|
rs72656340
|
|
NM_000088.4(COL1A1):c.3815G>T (p.Gly1272Val)
|
rs1114167402
|
|
NM_000088.4(COL1A1):c.432dup (p.Gly145fs)
|
rs72667016
|
|
NM_000088.4(COL1A1):c.4332dup (p.Asp1446fs)
|
rs1114167405
|
|
NM_000088.4(COL1A1):c.4386del (p.Phe1463fs)
|
rs1114167406
|
|
NM_000088.4(COL1A1):c.458dup (p.Gly154fs)
|
rs1114167407
|
|
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp)
|
rs1114167408
|
|
NM_000088.4(COL1A1):c.579del (p.Gly194fs)
|
rs72667023
|
|
NM_000088.4(COL1A1):c.589G>T (p.Gly197Cys)
|
rs8179178
|
|
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)
|
rs72667036
|
|
NM_000088.4(COL1A1):c.752G>A (p.Gly251Asp)
|
rs1114167410
|
|
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)
|
rs72645321
|
|
NM_000088.4(COL1A1):c.841G>A (p.Gly281Ser)
|
rs72645334
|
|
NM_000088.4(COL1A1):c.851G>C (p.Gly284Ala)
|
rs72645337
|
|
NM_000088.4(COL1A1):c.972_978dup (p.Ala327Ter)
|
rs1114167411
|
|
NM_000088.4(COL1A1):c.977G>A (p.Gly326Asp)
|
rs72645356
|
|
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)
|
rs67865220
|
|
NM_000089.4(COL1A2):c.1197+5G>A
|
rs68132885
|
|
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)
|
rs72658143
|
|
NM_000089.4(COL1A2):c.2835+1G>A
|
rs72659310
|
|
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)
|
rs1114167416
|
|
NM_000089.4(COL1A2):c.3304G>T (p.Gly1102Cys)
|
rs67768540
|
|
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser)
|
rs72656370
|
|
NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg)
|
rs1114167417
|
|
NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser)
|
rs1114167418
|
|
Single allele
|
|
|