LOVD - Variant listings for COL3A1

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Exon Hide Exon column Descending
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Mutation Effect Hide Mutation Effect column Descending
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Legacy change Hide Legacy change column Descending
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RNA change Hide RNA change column Descending
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1-52 c.1-?_c.4401+?del - Deletion Multi-exon deletion - - - - - COL3A1_00620
1 c.30G>A - Substitution Nonsense p.Trp10* - - - - COL3A1_00373
02 c.130G>A - Substitution Missense p.Val44Ile - - - - COL3A1_00587
02 c.145C>G
  (Reported 2 times)
- Substitution Missense p.(Pro49Ala) - - - - COL3A1_00646
02 c.202_207del - Deletion In-frame deletion p.Asp68_Asp69del - - - - COL3A1_00340
03 c.318_325del - Deletion Frameshift p.(Pro107Argfs*13) - - - - COL3A1_00648
04_05 c.370G>C - Substitution Missense p.(Gly124Arg) - - - - COL3A1_00653
04_05 c.413delC - Deletion Frameshift p.Pro138Leufs*27 - - - - COL3A1_00125
06 c.479dupT
  (Reported 2 times)
dbSNP Duplication Frameshift p.Lys161Glnfs*45 - - - - COL3A1_00078
06 c.505C>T - Substitution Missense p.Leu169Phe Leu2Phe - - - COL3A1_00004
07 c.530G>A - Substitution Missense p.Gly177Asp Gly10Asp - - - COL3A1_00588
07 c.531C>A dbSNP Substitution Silent p.= - - - - COL3A1_00183
07 c.539G>A
  (Reported 3 times)
- Substitution Missense p.Gly180Asp Gly13Asp - - - COL3A1_00250
07 c.547G>A
  (Reported 22 times)
- Substitution Missense p.Gly183Ser Gly16Ser - - - COL3A1_00006
07 c.547G>C - Substitution Missense p.Gly183Arg Gly16Arg - - - COL3A1_00374
07 c.547G>T - Substitution Missense p.Gly183Cys Gly16Cys - - - COL3A1_00005
07 c.548G>A
  (Reported 2 times)
- Substitution Missense p.Gly183Asp Gly16Asp - - - COL3A1_00001
07 c.548G>C
  (Reported 2 times)
- Substitution Missense p.Gly183Ala Gly16Ala - - - COL3A1_00297
07 c.550C>T - Substitution Missense p.Pro184Ser Pro17Ser - - - COL3A1_00214
07 c.555del - Deletion Frameshift p.(Gly186Valfs*36) - - - - COL3A1_00649
07 c.555delT
  (Reported 2 times)
- Deletion Frameshift p.Gly186Valfs*36 - - - - COL3A1_00126
07 c.556G>A
  (Reported 2 times)
- Substitution Missense p.Gly186Ser Gly19Ser - - - COL3A1_00330
07 c.565G>C - Substitution Missense p.Gly189Arg Gly22Arg - - - COL3A1_00375
07 c.575G>A
  (Reported 3 times)
- Substitution Missense p.Gly192Asp Gly25Asp - - - COL3A1_00279
07 c.575G>T - Substitution Missense p.Gly192Val Gly25Val - - - COL3A1_00007
07i c.582+1G>C
  (Reported 2 times)
- Substitution Splice site p.Pro178_Gly195del - r.529_582del - - COL3A1_00139
07i c.582+2dupT - Substitution Splice site - - - - - COL3A1_00139
07i c.582+5G>A
  (Reported 2 times)
- Substitution Splice site - - - - - COL3A1_00377
07i c.582+5G>T - Substitution Splice site - - - - - COL3A1_00378
07i c.582+5_+11delinsACA - Deletion Splice site - - - - - COL3A1_00376
07i c.582+6T>A - Substitution Splice site - - - - - COL3A1_00379
07i c.582+6T>C
  (Reported 2 times)
- Substitution Splice site - - - - - COL3A1_00161
07i c.582+53_798+317delinsATGCAAAATCAAA - Insertion/Deletion In-frame deletion p.Ser196_Gly267del - - - - COL3A1_00127
08 c.583G>C - Substitution Missense p.(Gly195Arg) Gly28Arg - - - COL3A1_00380
08 c.592G>A - Substitution Missense p.Gly198Arg Gly31Arg - - - COL3A1_00381
08 c.593G>A - Substitution Missense p.Gly198Glu Gly31Glu - - - COL3A1_00382
08 c.601G>C - Substitution Missense p.Gly201Arg Gly34Arg - - - COL3A1_00008
08 c.610G>A - Substitution Missense p.Gly204Ser Gly37Ser - - - COL3A1_00009
08 c.611G>A
  (Reported 2 times)
- Substitution Missense p.Gly204Asp Gly37Asp - - - COL3A1_00010
08 c.615_629dup - Duplication In-frame duplication - - - - - COL3A1_00383
08 c.620G>C - Substitution Missense p.(Gly207Ala) Gly40Ala - - - COL3A1_00668
08 c.620G>T - Substitution Missense p.Gly207Val Gly40Val - - - COL3A1_00384
08 c.629G>A - Substitution Missense p.Gly210Asp Gly43Asp - - - COL3A1_00011
08 c.629G>T - Substitution Missense p.Gly210Val Gly43Val - - - COL3A1_00011
8 c.631_636+6delins TACTAAATATA - Deletion Insertion Splice site - - - - - COL3A1_00385
08i c.636+1G>A - Substitution Splice site - - - - - COL3A1_00386
08i c.636+5G>A
  (Reported 6 times)
- Substitution Splice site - - - - - COL3A1_00140
09 c.637G>A - Substitution Missense p.Gly213Ser Gly46Ser - - - COL3A1_00387
09 c.638G>A
  (Reported 2 times)
- Substitution Missense p.(Gly213Asp) Gly46Asp - - - COL3A1_00333
09 c.647G>A
  (Reported 2 times)
- Substitution Missense p.Gly216Glu Gly49Glu - - - COL3A1_00388
09 c.647G>C - Substitution Missense p.Gly216Ala Gly49Ala - - - COL3A1_00281
09 c.649_1663-86del - Deletion In-frame deletion p.Gly212_Pro554del - - - - COL3A1_00128
09 c.655G>T - Substitution Missense p.Gly219Cys Gly52Cys - - - COL3A1_00012
09 c.656G>A
  (Reported 2 times)
- Substitution Missense p.Gly219Asp Gly52Asp - - - COL3A1_00390
09 c.656G>C - Substitution Missense p.Gly219Ala Gly52Ala - - - COL3A1_00389
09 c.665G>A
  (Reported 5 times)
- Substitution Missense p.Gly222Asp Gly55Asp - - - COL3A1_00211
09 c.665G>T
  (Reported 2 times)
- Substitution Missense p.Gly222Val Gly46Val - - - COL3A1_00301
09 c.674G>A - Substitution Missense p.Gly225Asp Gly58Asp - - - COL3A1_00259
09 c.674G>C - Substitution Missense p.Gly225Ala Gly58Ala - - - COL3A1_00391
09 c.674G>T - Substitution Missense p.Gly225Val Gly58Val - - - COL3A1_00013
09 c.682G>C - Substitution Missense p.Gly228Arg Gly61Arg - - - COL3A1_00392
09 c.683G>A
  (Reported 2 times)
- Substitution Missense p.Gly228Glu Gly61Glu - - - COL3A1_00014
09i c.690+1G>A - Substitution Splice site - - - - - COL3A1_00141
09i c.690+1G>T - Substitution Splice site - - - - - COL3A1_00314
09i c.690+2T>A - Substitution Splice site - - - - - COL3A1_00142
09i c.690+2T>G - Substitution Splice site - - - - - COL3A1_00143
09i c.691-2A>G - Substitution Splice site - - - - - COL3A1_00162
10 c.692G>A - Substitution Missense p.Gly231Glu Gly64Glu - - - COL3A1_00329
10 c.701G>A - Substitution Missense p.Gly234Asp Gly67Asp - - - COL3A1_00393
10 c.709G>A
  (Reported 6 times)
- Substitution Missense p.Gly237Arg Gly70Arg - - - COL3A1_00260
10 c.718G>C - Substitution Missense p.Gly240Arg Gly73Arg - - - COL3A1_00015
10 c.719G>C - Substitution Missense p.Gly240Ala Gly73Ala - - - COL3A1_00628
10 c.719G>T - Substitution Missense p.Gly240Val Gly73Val - - - COL3A1_00623
10 c.721G>A - Substitution Missense p.Glu241Lys Glu74Lys - - - COL3A1_00589
10 c.728G>A - Substitution Missense p.Gly243Glu Gly76Glu - - - COL3A1_00394
10 c.728G>T - Substitution Missense p.Gly243Val Gly76Val - - - COL3A1_00016
10 c.737G>A
  (Reported 2 times)
- Substitution Missense p.Gly246Glu Gly79Glu - - - COL3A1_00395
10i c.744+1G>A - Substitution Splice site - - - - - COL3A1_00621
11-14 c.(744+1_799-1)_(996+1_1150-1)del - Deletion Multi-exon deletion - - - - - COL3A1_00663
11 c.746G>A
  (Reported 2 times)
- Substitution Missense p.Gly249Asp Gly82Asp - - - COL3A1_00017
11 c.746G>T - Substitution Missense p.Gly249Val Gly82Val - - - COL3A1_00018
11 c.750delCinsAA - Insertion/Deletion Frameshift p.(Gly252Argfs*26) - - - - COL3A1_00667
11 c.754G>C - Substitution Missense p.Gly252Arg Gly85Arg - - - COL3A1_00019
11 c.755G>A - Substitution Missense p.Gly252Asp Gly85Asp - - - COL3A1_00020
11 c.755G>T
  (Reported 14 times)
- Substitution Missense p.Gly252Val Gly85Val - - - COL3A1_00021
11 c.764G>A - Substitution Missense p.Gly255Glu Gly88Glu - - - COL3A1_00396
11 c.764G>T
  (Reported 2 times)
- Substitution Missense p.Gly255Val Gly88Val - - - COL3A1_00022
11 c.766delA
  (Reported 2 times)
- Deletion Frameshift p.Ile256Tyrfs*7 - - - - COL3A1_00232
11 c.781G>A - Substitution Missense p.Gly261Ser Gly94Ser - - - COL3A1_00023
11 c.782G>A - Substitution Missense p.Gly261Asp Gly94Asp - - - COL3A1_00397
11 c.790G>A - Substitution Missense p.Gly264Arg Gly97Arg - - - COL3A1_00024
11 c.791G>A - Substitution Missense p.Gly264Glu Gly97Glu - - - COL3A1_00398
11i c.798+1G>A - Substitution Splice site p.Phe268Leufs*10 - - - - COL3A1_00233
12 c.799G>A - Substitution Missense p.Gly267Ser Gly100Ser - - - COL3A1_00399
12 c.800G>T
  (Reported 3 times)
- Substitution Missense p.Gly267Val Gly100Val - - - COL3A1_00026
12 c.809G>A - Substitution Missense p.Gly270Glu Gly103Glu - - - COL3A1_00400
12 c.811C>T
  (Reported 2 times)
- Substitution Nonsense p.Arg271* Arg104Ter - - - COL3A1_00590
12 c.812G>A
  (Reported 3 times)
dbSNP Substitution Missense p.Arg271Gln Arg104Gln - - - COL3A1_00230
12 c.821A>G - Substitution Missense p.(Glu274Gly) Glu107Gly - - - COL3A1_00654
12 c.826G>A
  (Reported 2 times)
- Substitution Missense p.Gly276Ser Gly109Ser - - - COL3A1_00591
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Legend: [ COL3A1 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 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. Frequency: Frequency if variant is non pathogenic. COL3A1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.