1 |
COL5A1 |
NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter) |
SNV |
Pathogenic
|
930611 |
rs1837850102 |
GRCh37: 9:137686958-137686958 GRCh38: 9:134795112-134795112 |
2 |
COL5A2 |
NM_000393.5(COL5A2):c.1159-60_2031+62dup |
DUP |
Pathogenic
|
976315 |
|
GRCh37: 2:189926225-189926226 GRCh38: 2:189061499-189061500 |
3 |
COL5A2 |
NM_000393.5(COL5A2):c.1924-2_1928del |
DEL |
Pathogenic
|
17196 |
rs786205103 |
GRCh37: 2:189927640-189927646 GRCh38: 2:189062914-189062920 |
4 |
COL5A2 |
NM_000393.5(COL5A2):c.2031+1G>T |
SNV |
Pathogenic
|
17197 |
rs786205104 |
GRCh37: 2:189926287-189926287 GRCh38: 2:189061561-189061561 |
5 |
COL5A2 |
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg) |
SNV |
Pathogenic
|
17198 |
rs121912930 |
GRCh37: 2:189907903-189907903 GRCh38: 2:189043177-189043177 |
6 |
COL5A1 |
NM_000093.5(COL5A1):c.2203dup (p.Gln735fs) |
DUP |
Pathogenic
|
375637 |
rs1057519596 |
GRCh37: 9:137659166-137659167 GRCh38: 9:134767320-134767321 |
7 |
COL5A1 and overlap with 1 gene(s) |
NC_000009.12:g.(?_134701171)_(134835204_?)del |
DEL |
Pathogenic
|
417456 |
|
GRCh37: 9:137593017-137727050 GRCh38: 9:134701171-134835204 |
8 |
COL5A1 |
NC_000009.12:g.(?_134690892)_(134763757_?)del |
DEL |
Pathogenic
|
459648 |
|
GRCh37: 9:137582738-137655603 GRCh38: 9:134690892-134763757 |
9 |
COL5A2 |
NM_000393.5(COL5A2):c.3148-2A>G |
SNV |
Pathogenic
|
518427 |
rs1553513971 |
GRCh37: 2:189912990-189912990 GRCh38: 2:189048264-189048264 |
10 |
COL5A2 |
NM_000393.5(COL5A2):c.2553+2del |
DEL |
Pathogenic
|
518425 |
rs1553514506 |
GRCh37: 2:189918148-189918148 GRCh38: 2:189053422-189053422 |
11 |
COL5A2 |
NM_000393.5(COL5A2):c.1617+4A>G |
SNV |
Pathogenic
|
518428 |
rs1553515517 |
GRCh37: 2:189929726-189929726 GRCh38: 2:189065000-189065000 |
12 |
COL5A2 |
NM_000393.5(COL5A2):c.4298del (p.Ile1433fs) |
DEL |
Pathogenic
|
518426 |
rs1553512393 |
GRCh37: 2:189899697-189899697 GRCh38: 2:189034971-189034971 |
13 |
COL5A1 |
NM_000093.5(COL5A1):c.1720-136_1929del |
DEL |
Pathogenic
|
573641 |
|
GRCh37: 9:137645560-137650136 GRCh38: 9:134753714-134758290 |
14 |
COL5A1, LOC101448202 |
NM_000093.5(COL5A1):c.5336_5337delinsG (p.Asn1779fs) |
INDEL |
Pathogenic
|
638817 |
rs1588615658 |
GRCh37: 9:137727016-137727017 GRCh38: 9:134835170-134835171 |
15 |
COL5A1, LOC101448202 |
NM_000093.5(COL5A1):c.5155G>T (p.Glu1719Ter) |
SNV |
Pathogenic
|
642115 |
rs776640704 |
GRCh37: 9:137726835-137726835 GRCh38: 9:134834989-134834989 |
16 |
COL5A1 |
NC_000009.12:g.(?_134690902)_(134727407_?)del |
DEL |
Pathogenic
|
662836 |
|
GRCh37: 9:137582748-137619253 GRCh38: 9:134690902-134727407 |
17 |
COL5A1, LOC101448202 |
NC_000009.12:g.134824601del |
DEL |
Pathogenic
|
802532 |
rs1588597744 |
GRCh37: 9:137716445-137716445 GRCh38: 9:134824599-134824599 |
18 |
COL1A2 |
NM_000089.4(COL1A2):c.857_875del (p.Gly286fs) |
DEL |
Pathogenic
|
802334 |
rs1584319045 |
GRCh37: 7:94038696-94038714 GRCh38: 7:94409384-94409402 |
19 |
COL1A2 |
NM_000089.4(COL1A2):c.2674-3T>G |
SNV |
Pathogenic
|
835669 |
rs72659303 |
GRCh37: 7:94054426-94054426 GRCh38: 7:94425114-94425114 |
20 |
COL1A2 |
NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu) |
SNV |
Pathogenic
|
860577 |
rs1791913210 |
GRCh37: 7:94040405-94040405 GRCh38: 7:94411093-94411093 |
21 |
COL5A2 |
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs) |
DUP |
Pathogenic
|
863014 |
rs1685782021 |
GRCh37: 2:189916057-189916058 GRCh38: 2:189051331-189051332 |
22 |
COL5A1 |
GRCh37/hg19 9q34.3(chr9:137496881-137648441) |
CN LOSS |
Pathogenic
|
625555 |
|
GRCh37: 9:137496881-137648441 GRCh38: |
23 |
COL5A1 |
NM_000093.5(COL5A1):c.4338+1G>A |
SNV |
Pathogenic
|
619958 |
rs1564481053 |
GRCh37: 9:137710610-137710610 GRCh38: 9:134818764-134818764 |
24 |
COL1A2 |
NM_000089.4(COL1A2):c.3286G>A (p.Gly1096Ser) |
SNV |
Pathogenic
|
934568 |
rs1792308325 |
GRCh37: 7:94056957-94056957 GRCh38: 7:94427645-94427645 |
25 |
COL1A2 |
NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg) |
SNV |
Pathogenic
|
934873 |
rs72658174 |
GRCh37: 7:94049880-94049880 GRCh38: 7:94420568-94420568 |
26 |
COL5A1 |
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter) |
SNV |
Pathogenic
|
451603 |
rs1554796176 |
GRCh37: 9:137658852-137658852 GRCh38: 9:134767006-134767006 |
27 |
COL5A1 |
NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs) |
INDEL |
Pathogenic
|
966713 |
rs1834879370 |
GRCh37: 9:137623371-137623373 GRCh38: 9:134731525-134731527 |
28 |
COL1A2 |
NC_000007.14:g.(?_94395012)_(94399104_?)del |
DEL |
Pathogenic
|
456800 |
|
GRCh37: 7:94024324-94028416 GRCh38: 7:94395012-94399104 |
29 |
COL1A2 |
NC_000007.14:g.(?_94395012)_(94395818_?)del |
DEL |
Pathogenic
|
526903 |
|
GRCh37: 7:94024324-94025130 GRCh38: 7:94395012-94395818 |
30 |
COL5A1 |
NC_000009.12:g.(?_134752569)_(134752665_?)del |
DEL |
Pathogenic
|
529307 |
|
GRCh37: 9:137644415-137644511 GRCh38: 9:134752569-134752665 |
31 |
COL1A2 |
NC_000007.13:g.(?_94037139)_(94037712_?)dup |
DUP |
Pathogenic
|
584403 |
|
GRCh37: 7:94037139-94037712 GRCh38: 7:94407827-94408400 |
32 |
COL5A1 |
NC_000009.12:g.(?_134642178)_(134701343_?)del |
DEL |
Pathogenic
|
830770 |
|
GRCh37: 9:137534024-137593189 GRCh38: |
33 |
COL5A1 |
NC_000009.12:g.(?_134782657)_(134842313_?)del |
DEL |
Pathogenic
|
831806 |
|
GRCh37: 9:137674503-137734159 GRCh38: |
34 |
COL5A1 |
NC_000009.12:g.(?_134699889)_(134700142_?)del |
DEL |
Pathogenic
|
583819 |
|
GRCh37: 9:137591735-137591988 GRCh38: 9:134699889-134700142 |
35 |
COL1A2 |
NC_000007.13:g.(?_94037139)_(94038155_?)dup |
DUP |
Pathogenic
|
640462 |
|
GRCh37: 7:94037139-94038155 GRCh38: 7:94407827-94408843 |
36 |
COL5A1 and overlap with 1 gene(s) |
NC_000009.12:g.(?_134642178)_(134768473_?)del |
DEL |
Pathogenic
|
655757 |
|
GRCh37: 9:137534024-137660319 GRCh38: 9:134642178-134768473 |
37 |
overlap with 4 genes |
NC_000002.12:g.(?_188974480)_(189580648_?)del |
DEL |
Pathogenic
|
830862 |
|
GRCh37: 2:189839206-190445374 GRCh38: |
38 |
COL1A1 |
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) |
SNV |
Pathogenic
|
17343 |
rs72645347 |
GRCh37: 17:48273698-48273698 GRCh38: 17:50196337-50196337 |
39 |
COL5A1 |
NM_000093.5(COL5A1):c.3762del (p.Gly1255fs) |
DEL |
Pathogenic
|
374262 |
rs1057518653 |
GRCh37: 9:137704468-137704468 GRCh38: 9:134812622-134812622 |
40 |
COL1A2 |
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser) |
SNV |
Pathogenic
|
425643 |
rs67865220 |
GRCh37: 7:94039107-94039107 GRCh38: 7:94409795-94409795 |
41 |
COL5A1 |
NM_000093.4(COL5A1):c.3369_3431dup |
DUP |
Pathogenic
|
978465 |
rs1838416489 |
GRCh37: 9:137701027-137701028 GRCh38: 9:134809181-134809182 |
42 |
COL5A1 |
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) |
DUP |
Pathogenic/Likely Pathogenic
|
459680 |
rs786205100 |
GRCh37: 9:137704452-137704453 GRCh38: 9:134812606-134812607 |
43 |
COL5A1, LOC101448202 |
NC_000009.12:g.(?_134834951)_(134835224_?)del |
DEL |
Likely Pathogenic
|
529308 |
|
GRCh37: 9:137726797-137727070 GRCh38: 9:134834951-134835224 |
44 |
COL5A1 |
NC_000009.11:g.(?_137582738)_(137593199_?)dup |
DUP |
Likely Pathogenic
|
459647 |
|
GRCh37: 9:137582738-137593199 GRCh38: 9:134690892-134701353 |
45 |
COL5A2 |
NM_000393.5(COL5A2):c.2553+1G>T |
SNV |
Likely Pathogenic
|
1723124 |
|
GRCh37: 2:189918149-189918149 GRCh38: 2:189053423-189053423 |
46 |
overlap with 2 genes |
NC_000002.11:g.(?_189839206)_(189950508_?)del |
DEL |
Likely Pathogenic
|
1066734 |
|
GRCh37: 2:189839206-189950508 GRCh38: |
47 |
COL5A1 |
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) |
SNV |
Likely Pathogenic
|
209143 |
rs777625241 |
GRCh37: 9:137591883-137591883 GRCh38: 9:134700037-134700037 |
48 |
COL5A1, LOC101448202 |
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) |
SNV |
Likely Pathogenic
|
827999 |
rs1588621711 |
GRCh37: 9:137734018-137734018 GRCh38: 9:134842172-134842172 |
49 |
TGFBR1 |
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp) |
SNV |
Likely Pathogenic
|
625133 |
rs1564161224 |
GRCh37: 9:101900141-101900141 GRCh38: 9:99137859-99137859 |
50 |
COL5A1, LOC101448202 |
NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC |
INDEL |
Likely Pathogenic
|
971250 |
rs1839537297 |
GRCh37: 9:137721890-137721898 GRCh38: 9:134830044-134830052 |