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LOVD - Variant listings for COL1A1

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1065 entries
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01_52 GRCh37 chr17:g.47332514_49565743del - - Deletion Whole gene deletion - - - - COL1A1_00905
01-06 c.(?_-119)_(543+33_544-42)del - - Deletion Multi-exon deletion p.? - - - COL1A1_00992
01_52 c.(?_-126)_(*1406_?)del
  (Reported 8 times)
- - Deletion Whole gene deletion - - - - COL1A1_00617
01_52 chr17q21.33_q23.1del - - Deletion Whole gene deletion - - - - COL1A1_00366
01_52 GRCh37 chr17:g.47554863_49471989del - - Deletion Whole gene deletion - - - - COL1A1_00903
01_52 GRCh37 chr17:g.47699383_49331643del - - Deletion Whole gene deletion - - - - COL1A1_00904
01_52 GRCh37 chr17:g.48099388_49348322del - - Deletion Whole gene deletion - - - - COL1A1_00906
01_52 GRCh37 chr17:g.48211636_48289249del - - Deletion Whole gene deletion - - - - COL1A1_00908
01_52 GRCh37 chr17:g.48242601_48379926del - - Substitution Whole gene deletion - - - - COL1A1_00907
01_52 GRCh37 chr17:g.48261783_48280296del - - Deletion Whole gene deletion - - - - COL1A1_00909
01_52 NCBI36.1 chr17:g.44909862_48312957del - - Deletion Whole gene deletion - - - - COL1A1_00910
01 c.1A>C - - Substitution Initiating methionine p.(Met?) - - - COL1A1_01316
01 c.1A>G
  (Reported 2 times)
- - Substitution Initiating methionine p.(Met1?) - - - COL1A1_00546
01 c.2T>C
  (Reported 2 times)
- - Substitution Initiating methionine p.(Met1?) - - - COL1A1_00460
01 c.2T>G - - Substitution Initiating methionine p.(Met1?) - - - COL1A1_00883
01 c.3G>T - - Substitution Initiating methionine p.(Met1?) - - - COL1A1_00631
01 c.37_38insC - - Insertion Frameshift p.Leu13Serfs*37 - - - COL1A1_00943
01 c.38T>G - - Substitution Nonsense p.(Leu13*) - - - COL1A1_00823
01 c.64G>C
  (Reported 2 times)
dbSNP - Substitution Missense p.(Gly22Arg) - - - COL1A1_00003
01 c.65_70del - - Deletion In-frame deletion p.(Gly22_Gln23del) - - - COL1A1_00868
01 c.67C>T - - Substitution Nonsense p.Q23* - - - COL1A1_01182
01 c.77G>A
  (Reported 2 times)
- - Substitution Missense p.(Gly26Asp) - - - COL1A1_00579
01 c.79C>T - - Substitution Nonsense p.(Gln27*) - - - COL1A1_00549
01 c.81delA - - Deletion Frameshift p.(Val28Serfs*46) - - - COL1A1_00922
01 c.91C>T dbSNP ClinVar Substitution Nonsense p.(Gln31*) - - - COL1A1_01071
01i c.103+1G>A
  (Reported 2 times)
dbSNP - Substitution Splice site - - - - COL1A1_00368
01i c.103+2T>C
  (Reported 2 times)
- - Substitution Splice site - - - - COL1A1_01054
1i c.104-441G>T - - Substitution Other - - - - COL1A1_01234
01i c.104-13_104-12delinsAA - - Insertion/Deletion Cryptic splice site - - - - COL1A1_00937
01i c.104-3C>G dbSNP - Substitution Splice site - - - - COL1A1_00142
01i c.104-1G>A - - Substitution Splice site - - - - COL1A1_00886
01i c.104-1G>C - - Substitution Splice site - - - - COL1A1_00850
01i-38i c.104-?_2613+?del - - Deletion Multi-exon deletion - - - - COL1A1_00753
02 c.111_117del - - Deletion Frameshift p.(Ile38Alafs*34) - - - COL1A1_00873
02 c.120C>A
  (Reported 2 times)
- - Substitution Nonsense p.Cys40* - - - COL1A1_00993
02 c.141C>A - - Substitution Nonsense p.(Tyr47*) - - - COL1A1_00932
02 c.143dupA - - Duplication Frameshift p.(His48Glnfs*2) - - - COL1A1_01183
02 c.148C>T - - Substitution Nonsense p.(Arg50*) - - - COL1A1_01095
02 c.158G>A
  (Reported 2 times)
- - Substitution Nonsense p.Trp53* - - - COL1A1_00994
02 c.174C>A - - Substitution Nonsense - - p.(Cys58*) - COL1A1_00920
02 c.177G>T dbSNP - Substitution Silent p.(=) - - - COL1A1_00500
02 c.182G>T
  (Reported 2 times)
- - Substitution Missense p.(Cys61Phe) - - - COL1A1_00686
02 c.189C>A
  (Reported 2 times)
- - Substitution Nonsense p.Cys63* - - - COL1A1_00925
02 c.198_204dup - - Duplication Frameshift p.(Leu69Glnfs*6) - - - COL1A1_00931
02 c.199A>T - - Substitution Nonsense p.(Lys67*) - - - COL1A1_00536
02 c.231delG - - Deletion Frameshift p.(Thr78Profs*76) - - - COL1A1_01164
02 c.246delC dbSNP - Deletion Frameshift p.(Gly83Alafs*182) - - - COL1A1_00285
02 c.253G>T - - Substitution Nonsense p.(Glu85*) - - - COL1A1_01175
02 c.266G>T - - Substitution Missense p.(Gly89Val) - - - COL1A1_00629
02 c.266_266delGinsCGCCGTCCCGGGGA - - Insertion/Deletion Frameshift p.(Gly89Alafs*84) - - - COL1A1_00578
02 c.268_299-60del - - Deletion Other - - - - COL1A1_00687
02 c.281T>A - - Substitution Nonsense p.(Val94Asp) - - - COL1A1_01063
02 c.285C>A - - Substitution Nonsense p.(Cys95*) - - - COL1A1_00632
02i c.299-5_313del - - Deletion Splice site - - - - COL1A1_00585
02i c.299-2A>G - - Substitution Splice site - - - - COL1A1_01184
02i c.299-1G>C
  (Reported 4 times)
- - Substitution Splice site - - - - COL1A1_00552
02 c.299_300del - - Deletion Frameshift p.(Glu100Valfs*68) - - - COL1A1_00995
02 c.299_300insC
  (Reported 2 times)
dbSNP - Insertion Frameshift p.(Glu100Aspfs*69) - - - COL1A1_00286
03 c.314_324del - - Deletion Frameshift p.(Gln105Argfs*60) - - - COL1A1_00688
03 c.333_333+1delinsTC - - Insertion/Deletion Splice site - - - - COL1A1_00143
03i c.333+2T>C
  (Reported 3 times)
dbSNP - Substitution Splice site - - - - COL1A1_00169
03i c.334-9A>G - - Substitution Splice site - - - - COL1A1_00911
03i c.334-2A>G dbSNP - Substitution Splice site - - - - COL1A1_00201
04 c.358C>T - - Substitution Nonsense p.Arg120* - - - COL1A1_00944
04i c.370-3_370-1delinsTC
  (Reported 2 times)
- - Insertion/Deletion Splice site - - - - COL1A1_00996
04i c.370-1G>A - - Substitution Splice site - - - - COL1A1_00689
05 c.386delC
  (Reported 4 times)
dbSNP - Deletion Frameshift p.(Pro129Leufs*136) - - - COL1A1_00288
05 c.386dupC
  (Reported 7 times)
- - Duplication Frameshift p.(Gly130Trpfs*39) - - - COL1A1_00287
05 c.389_390insA dbSNP - Insertion Frameshift p.(Arg131Profs*38) - - - COL1A1_00289
05 c.391C>T
  (Reported 4 times)
- - Substitution Nonsense p.(Arg131*) - - - COL1A1_00456
05 c.392_543+8delinsT - - Insertion/Deletion In-frame deletion p.(Gly124_Met181del) - - - COL1A1_00295
05 c.410_413del - - Deletion Frameshift p.Gln137Leufs*127 - - - COL1A1_00997
05 c.423delC - - Deletion Frameshift p.(Gly142Aspfs*123) - - - COL1A1_00682
05 c.432delC dbSNP - Deletion Frameshift p.(Gly145Aspfs*120) - - - COL1A1_00290
05 c.432dupC
  (Reported 3 times)
- - Duplication Frameshift p.(Gly145Argfs*24) - - - COL1A1_00665
05 c.436C>A dbSNP - Substitution Missense p.(Pro146Thr) - - - COL1A1_00493
05 c.441delC
  (Reported 3 times)
- - Deletion Frameshift p.(Gly148Aspfs*117) - - - COL1A1_00463
05 c.441dupC - - Duplication Frameshift p.(Gly148Arg*21) - - - COL1A1_00581
05 c.442G>T - - Substitution Nonsense p.Gly148* - - - COL1A1_00945
05 c.458dupC
  (Reported 4 times)
- - Duplication Nonsense p.(Gly154Trpfs*15) - - - COL1A1_00847
05 c.459delT
  (Reported 2 times)
dbSNP - Deletion Frameshift p.(Gly154Alafs*111) - - - COL1A1_00291
05 c.461G>T - - Deletion Missense p.(Gly154Val) - - - COL1A1_00941
05 c.462C>T dbSNP - Substitution Silent p.(=) - - - COL1A1_00507
05 c.469G>T
  (Reported 2 times)
- - Substitution Nonsense p.Gly157* - - - COL1A1_00998
05i c.471+1G>A
  (Reported 2 times)
dbSNP - Substitution Splice site - - - - COL1A1_00202
05i c.471+1G>C
  (Reported 2 times)
- - Substitution Splice site - - - - COL1A1_00946
05i c.472-2A>G dbSNP - Substitution Splice site - - - - COL1A1_00367
05i c.472-2A>T - - Substitution In-frame deletion p.(Asn158_Gln162del) - - - COL1A1_00751
05i c.472-1G>A
  (Reported 2 times)
dbSNP - Substitution Splice site - - - - COL1A1_00141
06i-42i c.472-?_3045+?del - - Deletion Multi-exon deletion - - - - COL1A1_00754
06 c.477dupT - - Duplication Frameshift p.(Ala160Cysfs*9) - - - COL1A1_00912
06 c.484C>T - - Substitution Nonsense p.Gln162* - - - COL1A1_00999
06 c.505G>A - - Substitution Missense p.(Glu169Lys) - - - COL1A1_01233
06 c.506delA
  (Reported 3 times)
- - Deletion Frameshift p.(Glu169Glyfs*96) - - - COL1A1_00655
06 c.517G>A - - Substitution Missense p.(Gly173Arg) - - - COL1A1_00901
06 c.517G>T
  (Reported 2 times)
- - Substitution Nonsense p.(Gly173*) - - - COL1A1_00843
06 c.533delC dbSNP - Deletion Frameshift p.(Pro178Leufs*87) - - - COL1A1_00292
06 c.540dupC - - Duplication Frameshift p.(Met181Hisfs*27) - - - COL1A1_00835
06 c.543G>A
  (Reported 2 times)
dbSNP - Substitution Splice site p.(Met181Ile) Met3Ile - - COL1A1_00205
06i c.543+1G>C - - Substitution Splice site - - - - COL1A1_01001
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Legend: [ COL1A1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP ClinVar: ClinVar Type: Type of variant at DNA level. Mutation effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. Legacy change: "Traditional" (legacy) amino acid numbering RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. COL1A1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.