NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_000090.4(COL3A1):c.3202-14del
|
rs767971610
|
0.00059
|
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=)
|
rs779774302
|
0.00017
|
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)
|
rs371583734
|
0.00017
|
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)
|
rs112371422
|
0.00015
|
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu)
|
rs201880122
|
0.00014
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr)
|
rs201220788
|
0.00013
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His)
|
rs144260440
|
0.00011
|
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu)
|
rs373838193
|
0.00011
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr)
|
rs776478974
|
0.00010
|
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His)
|
rs138533702
|
0.00010
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser)
|
rs769622439
|
0.00007
|
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)
|
rs756125442
|
0.00007
|
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser)
|
rs757192342
|
0.00006
|
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)
|
rs200394946
|
0.00006
|
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His)
|
rs568986390
|
0.00006
|
NM_000090.4(COL3A1):c.1585G>A (p.Val529Ile)
|
rs140257722
|
0.00006
|
NM_000090.4(COL3A1):c.217G>C (p.Asp73His)
|
rs200246388
|
0.00006
|
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu)
|
rs139610730
|
0.00006
|
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln)
|
rs886038983
|
0.00006
|
NM_000090.4(COL3A1):c.873C>T (p.Gly291=)
|
rs138569287
|
0.00006
|
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)
|
rs745743884
|
0.00005
|
NM_000090.4(COL3A1):c.1238G>A (p.Arg413Gln)
|
rs200446048
|
0.00005
|
NM_000090.4(COL3A1):c.1261G>A (p.Ala421Thr)
|
rs372329498
|
0.00004
|
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val)
|
rs770168441
|
0.00004
|
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu)
|
rs886038849
|
0.00004
|
NM_000090.4(COL3A1):c.272C>T (p.Pro91Leu)
|
rs534898281
|
0.00004
|
NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln)
|
rs367754862
|
0.00004
|
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg)
|
rs769100283
|
0.00004
|
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr)
|
rs550665335
|
0.00004
|
NM_000090.4(COL3A1):c.928C>T (p.Arg310Trp)
|
rs757062073
|
0.00004
|
NM_000090.4(COL3A1):c.929G>A (p.Arg310Gln)
|
rs778497667
|
0.00004
|
NM_000090.4(COL3A1):c.1472G>A (p.Arg491Gln)
|
rs774551212
|
0.00003
|
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=)
|
rs373963384
|
0.00003
|
NM_000090.4(COL3A1):c.1787G>A (p.Arg596Gln)
|
rs774632188
|
0.00003
|
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser)
|
rs372027308
|
0.00003
|
NM_000090.4(COL3A1):c.2446-10T>C
|
rs1060500195
|
0.00003
|
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)
|
rs794727586
|
0.00003
|
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg)
|
rs778419091
|
0.00003
|
NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln)
|
rs1021622002
|
0.00002
|
NM_000090.4(COL3A1):c.1873C>T (p.Pro625Ser)
|
rs747419192
|
0.00002
|
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu)
|
rs1466862530
|
0.00002
|
NM_000090.4(COL3A1):c.1895C>T (p.Thr632Ile)
|
rs769039976
|
0.00002
|
NM_000090.4(COL3A1):c.3461G>C (p.Ser1154Thr)
|
rs147054108
|
0.00002
|
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln)
|
rs369494336
|
0.00002
|
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu)
|
rs763901831
|
0.00002
|
NM_000090.4(COL3A1):c.3764G>A (p.Arg1255His)
|
rs368119434
|
0.00002
|
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln)
|
rs745656610
|
0.00002
|
NM_000090.4(COL3A1):c.4378G>A (p.Val1460Ile)
|
rs561556753
|
0.00002
|
NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln)
|
rs753589858
|
0.00002
|
NM_000090.4(COL3A1):c.101A>G (p.His34Arg)
|
rs752110396
|
0.00001
|
NM_000090.4(COL3A1):c.1075C>G (p.Pro359Ala)
|
rs574831241
|
0.00001
|
NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr)
|
rs794728035
|
0.00001
|
NM_000090.4(COL3A1):c.1288G>A (p.Gly430Ser)
|
rs1688253514
|
0.00001
|
NM_000090.4(COL3A1):c.1338T>A (p.Arg446=)
|
rs1553507953
|
0.00001
|
NM_000090.4(COL3A1):c.1347+4A>G
|
rs777467344
|
0.00001
|
NM_000090.4(COL3A1):c.13G>A (p.Val5Met)
|
rs1461198652
|
0.00001
|
NM_000090.4(COL3A1):c.1408C>T (p.Pro470Ser)
|
rs748530632
|
0.00001
|
NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro)
|
rs374532173
|
0.00001
|
NM_000090.4(COL3A1):c.1480G>A (p.Ala494Thr)
|
rs200866608
|
0.00001
|
NM_000090.4(COL3A1):c.14T>A (p.Val5Glu)
|
rs751315184
|
0.00001
|
NM_000090.4(COL3A1):c.1595G>A (p.Gly532Asp)
|
rs1305363057
|
0.00001
|
NM_000090.4(COL3A1):c.1758T>C (p.Asn586=)
|
rs756227982
|
0.00001
|
NM_000090.4(COL3A1):c.1761+6T>C
|
rs189483688
|
0.00001
|
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile)
|
rs762028131
|
0.00001
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
0.00001
|
NM_000090.4(COL3A1):c.1869+6T>G
|
rs730880063
|
0.00001
|
NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu)
|
rs794728048
|
0.00001
|
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys)
|
rs189846410
|
0.00001
|
NM_000090.4(COL3A1):c.1976C>T (p.Pro659Leu)
|
rs756822808
|
0.00001
|
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met)
|
rs372269408
|
0.00001
|
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly)
|
rs376603102
|
0.00001
|
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His)
|
rs753162027
|
0.00001
|
NM_000090.4(COL3A1):c.2446-5T>A
|
rs1163013218
|
0.00001
|
NM_000090.4(COL3A1):c.2479A>G (p.Arg827Gly)
|
rs1309388302
|
0.00001
|
NM_000090.4(COL3A1):c.2485G>T (p.Ala829Ser)
|
rs755676319
|
0.00001
|
NM_000090.4(COL3A1):c.2587C>T (p.Arg863Cys)
|
rs568639668
|
0.00001
|
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)
|
rs376643618
|
0.00001
|
NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr)
|
rs761469859
|
0.00001
|
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu)
|
rs1455100373
|
0.00001
|
NM_000090.4(COL3A1):c.2773G>A (p.Asp925Asn)
|
rs929526823
|
0.00001
|
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys)
|
rs768671254
|
0.00001
|
NM_000090.4(COL3A1):c.3071G>A (p.Arg1024Gln)
|
rs1484867480
|
0.00001
|
NM_000090.4(COL3A1):c.3093+3A>G
|
rs771429937
|
0.00001
|
NM_000090.4(COL3A1):c.3163G>A (p.Val1055Ile)
|
rs747197616
|
0.00001
|
NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser)
|
rs180938313
|
0.00001
|
NM_000090.4(COL3A1):c.3224C>T (p.Ala1075Val)
|
rs952989325
|
0.00001
|
NM_000090.4(COL3A1):c.3307G>C (p.Ala1103Pro)
|
rs374548570
|
0.00001
|
NM_000090.4(COL3A1):c.3440C>T (p.Pro1147Leu)
|
rs889877870
|
0.00001
|
NM_000090.4(COL3A1):c.3593G>A (p.Gly1198Asp)
|
rs756858564
|
0.00001
|
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala)
|
rs374452484
|
0.00001
|
NM_000090.4(COL3A1):c.3690C>G (p.Asn1230Lys)
|
rs1190691997
|
0.00001
|
NM_000090.4(COL3A1):c.3793C>A (p.Leu1265Met)
|
rs200052168
|
0.00001
|
NM_000090.4(COL3A1):c.3808C>A (p.Pro1270Thr)
|
rs756724842
|
0.00001
|
NM_000090.4(COL3A1):c.3928G>A (p.Val1310Ile)
|
rs1688692242
|
0.00001
|
NM_000090.4(COL3A1):c.3934C>T (p.Arg1312Trp)
|
rs794728056
|
0.00001
|
NM_000090.4(COL3A1):c.3935G>A (p.Arg1312Gln)
|
rs772919524
|
0.00001
|
NM_000090.4(COL3A1):c.4003G>A (p.Gly1335Ser)
|
rs751807135
|
0.00001
|
NM_000090.4(COL3A1):c.4118A>G (p.Lys1373Arg)
|
rs775951025
|
0.00001
|
NM_000090.4(COL3A1):c.4254+3A>G
|
rs376799861
|
0.00001
|
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly)
|
rs1415901923
|
0.00001
|
NM_000090.4(COL3A1):c.4276A>G (p.Lys1426Glu)
|
rs908421014
|
0.00001
|
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu)
|
rs772428340
|
0.00001
|
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn)
|
rs1131691353
|
0.00001
|
NM_000090.4(COL3A1):c.4372G>A (p.Val1458Met)
|
rs751427069
|
0.00001
|
NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro)
|
rs751350498
|
0.00001
|
NM_000090.4(COL3A1):c.635C>T (p.Ser212Leu)
|
rs1191990780
|
0.00001
|
NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser)
|
rs771858477
|
0.00001
|
NM_000090.4(COL3A1):c.713G>A (p.Arg238Gln)
|
rs760324242
|
0.00001
|
NM_000090.4(COL3A1):c.752A>G (p.Lys251Arg)
|
rs151148197
|
0.00001
|
NM_000090.4(COL3A1):c.792A>G (p.Gly264=)
|
rs113304344
|
0.00001
|
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser)
|
rs1318892403
|
0.00001
|
NM_000090.4(COL3A1):c.897+4A>G
|
rs886039191
|
0.00001
|
NM_000090.4(COL3A1):c.898-14A>G
|
rs763316592
|
0.00001
|
NM_000090.4(COL3A1):c.1028T>C (p.Phe343Ser)
|
rs794728041
|
|
NM_000090.4(COL3A1):c.1030C>T (p.Pro344Ser)
|
rs794728042
|
|
NM_000090.4(COL3A1):c.1050+7A>G
|
rs950435405
|
|
NM_000090.4(COL3A1):c.1057G>A (p.Val353Ile)
|
rs1688228735
|
|
NM_000090.4(COL3A1):c.1102A>G (p.Arg368Gly)
|
rs2153502282
|
|
NM_000090.4(COL3A1):c.111G>C (p.Gln37His)
|
rs2153501346
|
|
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)
|
rs201380807
|
|
NM_000090.4(COL3A1):c.1201G>C (p.Ala401Pro)
|
rs373858715
|
|
NM_000090.4(COL3A1):c.1205_1206delinsAA (p.Gly402Glu)
|
rs794728058
|
|
NM_000090.4(COL3A1):c.1294G>A (p.Gly432Ser)
|
rs794728045
|
|
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys)
|
rs150670470
|
|
NM_000090.4(COL3A1):c.1342G>A (p.Glu448Lys)
|
rs1553507955
|
|
NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys)
|
rs1559056438
|
|
NM_000090.4(COL3A1):c.1455+5G>A
|
rs774425143
|
|
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=)
|
rs747522483
|
|
NM_000090.4(COL3A1):c.1509G>A (p.Lys503=)
|
rs1576465649
|
|
NM_000090.4(COL3A1):c.1531G>A (p.Ala511Thr)
|
rs926106259
|
|
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg)
|
rs142085247
|
|
NM_000090.4(COL3A1):c.1604T>G (p.Met535Arg)
|
|
|
NM_000090.4(COL3A1):c.1608G>T (p.Arg536Ser)
|
rs1309672419
|
|
NM_000090.4(COL3A1):c.1622G>T (p.Ser541Ile)
|
rs794728046
|
|
NM_000090.4(COL3A1):c.1651C>A (p.Pro551Thr)
|
|
|
NM_000090.4(COL3A1):c.1652C>T (p.Pro551Leu)
|
rs868705044
|
|
NM_000090.4(COL3A1):c.1662+9A>G
|
|
|
NM_000090.4(COL3A1):c.1668T>G (p.Ser556Arg)
|
rs1688319570
|
|
NM_000090.4(COL3A1):c.1676A>C (p.Glu559Ala)
|
rs794728047
|
|
NM_000090.4(COL3A1):c.1676A>T (p.Glu559Val)
|
|
|
NM_000090.4(COL3A1):c.1774A>C (p.Lys592Gln)
|
|
|
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu)
|
rs1039226542
|
|
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser)
|
rs762129273
|
|
NM_000090.4(COL3A1):c.1924-8_1924-3del
|
rs1553508529
|
|
NM_000090.4(COL3A1):c.1940G>A (p.Gly647Asp)
|
|
|
NM_000090.4(COL3A1):c.1958A>G (p.Asn653Ser)
|
rs2153502903
|
|
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr)
|
rs1064796979
|
|
NM_000090.4(COL3A1):c.1978-9A>G
|
rs2153502938
|
|
NM_000090.4(COL3A1):c.200G>C (p.Cys67Ser)
|
rs1085307576
|
|
NM_000090.4(COL3A1):c.2101C>G (p.Pro701Ala)
|
rs762687549
|
|
NM_000090.4(COL3A1):c.2107C>G (p.Pro703Ala)
|
rs780123051
|
|
NM_000090.4(COL3A1):c.2273A>G (p.Asp758Gly)
|
rs2153503070
|
|
NM_000090.4(COL3A1):c.23G>A (p.Gly8Glu)
|
rs2153500011
|
|
NM_000090.4(COL3A1):c.245G>A (p.Gly82Glu)
|
|
|
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
|
rs777361888
|
|
NM_000090.4(COL3A1):c.2522T>C (p.Val841Ala)
|
rs1466306398
|
|
NM_000090.4(COL3A1):c.2524G>A (p.Ala842Thr)
|
|
|
NM_000090.4(COL3A1):c.2553+9C>T
|
rs886042219
|
|
NM_000090.4(COL3A1):c.2606C>A (p.Pro869His)
|
rs794728052
|
|
NM_000090.4(COL3A1):c.2621T>G (p.Phe874Cys)
|
rs377135800
|
|
NM_000090.4(COL3A1):c.263G>A (p.Cys88Tyr)
|
rs2153501373
|
|
NM_000090.4(COL3A1):c.2668C>T (p.Pro890Ser)
|
rs794728053
|
|
NM_000090.4(COL3A1):c.266C>G (p.Pro89Arg)
|
rs139610730
|
|
NM_000090.4(COL3A1):c.2678C>G (p.Pro893Arg)
|
rs1455100373
|
|
NM_000090.4(COL3A1):c.2713C>T (p.Pro905Ser)
|
rs112640146
|
|
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)
|
rs144036995
|
|
NM_000090.4(COL3A1):c.274C>G (p.Pro92Ala)
|
|
|
NM_000090.4(COL3A1):c.2791G>A (p.Glu931Lys)
|
rs1553509193
|
|
NM_000090.4(COL3A1):c.2809G>A (p.Ala937Thr)
|
rs1688533171
|
|
NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln)
|
rs1221479337
|
|
NM_000090.4(COL3A1):c.2822C>T (p.Pro941Leu)
|
|
|
NM_000090.4(COL3A1):c.2913T>A (p.Pro971=)
|
rs367872728
|
|
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His)
|
rs374527092
|
|
NM_000090.4(COL3A1):c.2981C>T (p.Pro994Leu)
|
rs1688563132
|
|
NM_000090.4(COL3A1):c.2993A>T (p.Gln998Leu)
|
rs139859476
|
|
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)
|
|
|
NM_000090.4(COL3A1):c.3044A>G (p.Asn1015Ser)
|
rs1064796863
|
|
NM_000090.4(COL3A1):c.3074A>C (p.Asp1025Ala)
|
|
|
NM_000090.4(COL3A1):c.3124G>A (p.Ala1042Thr)
|
rs2153503724
|
|
NM_000090.4(COL3A1):c.3143A>G (p.His1048Arg)
|
rs2153503727
|
|
NM_000090.4(COL3A1):c.3145C>G (p.Pro1049Ala)
|
rs775562650
|
|
NM_000090.4(COL3A1):c.3209C>G (p.Ala1070Gly)
|
|
|
NM_000090.4(COL3A1):c.3227C>G (p.Pro1076Arg)
|
|
|
NM_000090.4(COL3A1):c.3326G>C (p.Arg1109Pro)
|
rs730880062
|
|
NM_000090.4(COL3A1):c.3333C>A (p.Phe1111Leu)
|
rs1376067428
|
|
NM_000090.4(COL3A1):c.3378G>C (p.Gln1126His)
|
|
|
NM_000090.4(COL3A1):c.3407C>T (p.Ala1136Val)
|
rs1688631496
|
|
NM_000090.4(COL3A1):c.3424G>A (p.Val1142Ile)
|
rs2153503966
|
|
NM_000090.4(COL3A1):c.3442C>T (p.Pro1148Ser)
|
rs1287518692
|
|
NM_000090.4(COL3A1):c.349C>A (p.Pro117Thr)
|
rs1559052973
|
|
NM_000090.4(COL3A1):c.3525+3A>C
|
rs1553509674
|
|
NM_000090.4(COL3A1):c.3525+5G>A
|
rs2153503988
|
|
NM_000090.4(COL3A1):c.3530C>T (p.Ser1177Phe)
|
rs1688654581
|
|
NM_000090.4(COL3A1):c.3590G>C (p.Cys1197Ser)
|
|
|
NM_000090.4(COL3A1):c.3617C>T (p.Ala1206Val)
|
|
|
NM_000090.4(COL3A1):c.3699G>C (p.Glu1233Asp)
|
|
|
NM_000090.4(COL3A1):c.3824-8C>T
|
rs1576474022
|
|
NM_000090.4(COL3A1):c.3841C>G (p.Pro1281Ala)
|
rs759132286
|
|
NM_000090.4(COL3A1):c.3850G>A (p.Gly1284Arg)
|
|
|
NM_000090.4(COL3A1):c.3869T>C (p.Ile1290Thr)
|
rs1688690716
|
|
NM_000090.4(COL3A1):c.38T>C (p.Leu13Pro)
|
rs2153500016
|
|
NM_000090.4(COL3A1):c.3901A>G (p.Thr1301Ala)
|
|
|
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu)
|
rs886038983
|
|
NM_000090.4(COL3A1):c.3983T>G (p.Phe1328Cys)
|
rs1553509872
|
|
NM_000090.4(COL3A1):c.3998A>G (p.Asp1333Gly)
|
rs376651720
|
|
NM_000090.4(COL3A1):c.4070T>C (p.Leu1357Pro)
|
rs2153504318
|
|
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln)
|
rs1227282800
|
|
NM_000090.4(COL3A1):c.4088G>C (p.Arg1363Pro)
|
rs1227282800
|
|
NM_000090.4(COL3A1):c.4180G>C (p.Gly1394Arg)
|
|
|
NM_000090.4(COL3A1):c.4184C>T (p.Ser1395Leu)
|
rs1131691707
|
|
NM_000090.4(COL3A1):c.4197A>G (p.Glu1399=)
|
rs2153504345
|
|
NM_000090.4(COL3A1):c.419T>C (p.Ile140Thr)
|
rs750849196
|
|
NM_000090.4(COL3A1):c.4294C>T (p.Arg1432Ter)
|
rs587779585
|
|
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro)
|
rs148015311
|
|
NM_000090.4(COL3A1):c.4345A>C (p.Ile1449Leu)
|
rs2153504452
|
|
NM_000090.4(COL3A1):c.4358A>T (p.Asp1453Val)
|
rs1049427570
|
|
NM_000090.4(COL3A1):c.4359T>G (p.Asp1453Glu)
|
rs2153504458
|
|
NM_000090.4(COL3A1):c.4367T>C (p.Phe1456Ser)
|
|
|
NM_000090.4(COL3A1):c.507C>G (p.Leu169=)
|
rs142437505
|
|
NM_000090.4(COL3A1):c.517C>G (p.Pro173Ala)
|
|
|
NM_000090.4(COL3A1):c.528+5G>A
|
rs794728038
|
|
NM_000090.4(COL3A1):c.550C>A (p.Pro184Thr)
|
|
|
NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg)
|
rs886038977
|
|
NM_000090.4(COL3A1):c.636+5_636+8del
|
rs1688112903
|
|
NM_000090.4(COL3A1):c.645A>C (p.Pro215=)
|
rs1000777138
|
|
NM_000090.4(COL3A1):c.724C>G (p.Arg242Gly)
|
rs1333421028
|
|
NM_000090.4(COL3A1):c.748A>G (p.Ile250Val)
|
rs2153501971
|
|
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly)
|
rs1688177791
|
|
NM_000090.4(COL3A1):c.841C>G (p.Pro281Ala)
|
|
|
NM_000090.4(COL3A1):c.842C>A (p.Pro281His)
|
rs794728039
|
|
NM_000090.4(COL3A1):c.86_88del (p.Glu29del)
|
rs1559052566
|
|
NM_000090.4(COL3A1):c.877A>G (p.Asn293Asp)
|
rs1131691328
|
|
NM_000090.4(COL3A1):c.879T>A (p.Asn293Lys)
|
rs1576463837
|
|
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser)
|
rs958176385
|
|
NM_000090.4(COL3A1):c.95G>A (p.Cys32Tyr)
|
rs2153501342
|
|