LOVD - Variant listings for COL1A2

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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

dbSNP Hide dbSNP column Descending
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Type Hide Type column Descending
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Mutation effect Hide Mutation effect column Descending
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Protein Hide Protein 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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Re-site Hide Re-site column Descending
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DB-ID Hide DB-ID column Descending
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01-18 c.1-?_936+?del - Deletion Multi-exon deletion p.? - - - COL1A2_00413
01i c.70+717A>G dbSNP Substitution Other - - - - COL1A2_00261
03 c.87T>C dbSNP Substitution Silent p.(=) - - - COL1A2_00308
04 c.118C>A - Substitution Missense p.(Pro40Thr) - - - COL1A2_00391
05 c.214G>A - Substitution Missense p.(Gly72Ser) - - - COL1A2_00513
05i c.226-22_226-11del - Deletion Splice site - - - - COL1A2_00434
05i-06i c.226-17_279+12del dbSNP Deletion Exon deletion p.(Asn76_Met93del) - - - COL1A2_00207
05i c.226-2A>G
  (Reported 3 times)
dbSNP Substitution Splice site - - - - COL1A2_00224
05i c.226-1G>A dbSNP Substitution Splice site - - - - COL1A2_00225
05i c.226-1G>C dbSNP Substitution Splice site - - - - COL1A2_00226
06 c.246T>C dbSNP Substitution Silent p.(=) - - - COL1A2_00309
06 c.279G>A
  (Reported 2 times)
dbSNP Substitution Missense & Splice site p.(Met93Ile) Met3Ile - - COL1A2_00227
06i c.279+1G>A
  (Reported 6 times)
dbSNP Substitution Splice site - - - - COL1A2_00228
06i c.279+1G>C - Substitution Splice site - - - - COL1A2_00462
06i c.279+1G>T
  (Reported 5 times)
dbSNP Substitution Splice site - - - - COL1A2_00229
06i c.279+2T>C
  (Reported 4 times)
dbSNP Substitution Splice site - - - - COL1A2_00230
06i c.279+2T>G - Substitution Splice site - - - - COL1A2_00460
06i-11i c.280-1149_540+63del dbSNP Deletion Multi-exon deletion p.(Gly94_Arg180del) - - - COL1A2_00208
07 c.287T>A - Substitution Missense p.(Met96Lys) - - - COL1A2_00583
07 c.293dupC - Duplication Frameshift p.(Arg99*) - - - COL1A2_00209
07 c.304C>T
  (Reported 2 times)
- Substitution Missense p.(Pro102Ser) Pro12Ser - - COL1A2_00559
07i c.324+4delA - Deletion Splice site - - - - COL1A2_00479
08 c.326G>A
  (Reported 2 times)
- Substitution Missense p.(Gly109Asp) Gly19Asp - - COL1A2_00463
08 c.335G>A - Substitution Missense p.(Gly112Asp) Gly22Asp - - COL1A2_00590
08 c.335G>T
  (Reported 4 times)
- Substitution Missense p.(Gly112Val) Gly22Val - - COL1A2_00432
08 c.343G>A - Substitution Missense p.(Gly115Arg) Gly25Arg - - COL1A2_00396
08 c.353G>A dbSNP Substitution Missense p.(Gly118Asp) Gly28Asp - - COL1A2_00001
08 c.353G>T - Substitution Missense p.(Gly118Val) - - - COL1A2_00594
08 c.362G>A - Substitution Missense p.(Gly121Asp) Gly31Asp - - COL1A2_00324
08 c.371G>A
  (Reported 3 times)
dbSNP Substitution Missense p.(Gly124Asp) Gly34Asp - - COL1A2_00002
09 c.380G>A
  (Reported 2 times)
- Substitution Missense p.(Gly127Asp) Gly37Asp - - COL1A2_00343
09 c.389G>A dbSNP Substitution Missense p.(Gly130Asp) Gly40Asp - - COL1A2_00003
09 c.397G>A dbSNP Substitution Missense p.(Gly133Ser) Gly43Ser - - COL1A2_00004
09 c.407G>A - Substitution Missense p.(Gly136Asp) Gly46Asp - - COL1A2_00587
09 c.416G>T - Substitution Missense p.(Gly139Val) Gly49Val - - COL1A2_00408
09i c.432+1G>A
  (Reported 2 times)
- Substitution Splice site - - - - COL1A2_00382
09i c.432+3_432+13del dbSNP Deletion Splice site - - - - COL1A2_00231
09i c.432+4_432+7del
  (Reported 2 times)
dbSNP Deletion Splice site - - - - COL1A2_00232
09i c.432+5G>A
  (Reported 2 times)
dbSNP Substitution Splice site - - - - COL1A2_00233
09i-17i c.432+59_891+7del dbSNP Deletion Multi-exon deletion p.(Gly145_Pro297del) - - - COL1A2_00210
09i c.433-2A>G - Substitution Splice site - - - - COL1A2_00480
09i c.433-1G>C
  (Reported 2 times)
dbSNP Substitution Splice site - - - - COL1A2_00234
10i c.486+1G>C - Substitution Splice site - - - - COL1A2_00481
10i c.486+2T>G - Substitution Splice site - - - - COL1A2_00602
10i c.487-5_500del dbSNP Deletion Splice site - - - - COL1A2_00239
11 c.497G>T
  (Reported 3 times)
dbSNP Substitution Missense p.(Gly166Val) Gly76Val - - COL1A2_00005
11 c.506G>A - Substitution Missense p.(Gly169Glu) Gly79Glu - - COL1A2_00341
11i c.540+5G>A dbSNP Substitution Splice site - - - - COL1A2_00259
12 c.544C>G dbSNP Substitution Missense p.(His182Asp) His92Asp - - COL1A2_00137
12 c.560G>A
  (Reported 2 times)
- Substitution Missense p.(Gly187Glu) Gly97Glu - - COL1A2_00493
12 c.569G>A - Substitution Missense p.(Gly190Glu) Gly100Glu - - COL1A2_00421
12 c.569G>C - Substitution Missense p.(Gly190Ala) Gly100Ala - - COL1A2_00617
12 c.569G>T
  (Reported 2 times)
dbSNP Substitution Missense p.(Gly190Val) Gly100Val - - COL1A2_00006
12 c.577G>A
  (Reported 18 times)
dbSNP Substitution Missense p.(Gly193Ser) Gly103Ser - - COL1A2_00007
12 c.577G>C - Substitution Missense p.(Gly193Arg) Gly103Arg - - COL1A2_00322
12 c.578G>A dbSNP Substitution Missense p.(Gly193Asp) Gly103Asp - - COL1A2_00008
12 c.578G>T - Substitution Missense p.(Gly193Val) Gly103Val - - COL1A2_00550
12 c.582T>G - Substitution Silent p.(=) - - - COL1A2_00557
12 c.586G>T - Substitution Missense p.(Gly196Cys) Gly109Cys - - COL1A2_00457
12 c.587G>A
  (Reported 2 times)
- Substitution Missense p.(Gly196Asp) Gly106Asp - - COL1A2_00455
12 c.587G>T - Substitution Missense p.(Gly196Val) Gly106Val - - COL1A2_00464
12i c.594+1_594+19del dbSNP Deletion Splice site - - - - COL1A2_00241
12i c.594+2T>G dbSNP Substitution Splice site - - - - COL1A2_00203
12i c.595-3T>A dbSNP Substitution Splice site - - - - COL1A2_00242
12i c.595-2A>G
  (Reported 2 times)
dbSNP Substitution Splice site - - - - COL1A2_00243
13 c.595G>C - Substitution Missense P.Gly199Arg Gly109arg - - COL1A2_00603
13 c.596G>A - Substitution Missense p.(Gly199Asp) Gly109Asp - - COL1A2_00286
13 c.596G>T - Substitution Missense p.(Gly199Val) Gly109Val - - COL1A2_00465
13 c.604G>C
  (Reported 5 times)
dbSNP Substitution Missense p.(Gly202Arg) Gly112Arg - - COL1A2_00009
13 c.605G>A
  (Reported 3 times)
dbSNP Substitution Missense p.(Gly202Asp) Gly112Asp - - COL1A2_00010
13+15 c.[623G>A;704G>A] - Substitution Missense p.[Gly208Glu;Gly235Asp] Gly118Glu+Gly145Asp - - COL1A2_00575
13 c.632G>A
  (Reported 2 times)
dbSNP Substitution Missense p.(Gly211Asp) Gly121Asp - - COL1A2_00011
13 c.632G>T - Substitution Missense p.(Gly211Val) Gly121Val - - COL1A2_00325
13i c.639+4_639+22del dbSNP Deletion Splice site - - - - COL1A2_00244
14 c.650G>A - Substitution Missense p.(Gly217Glu) Gly127Glu - - COL1A2_00326
14 c.650G>T dbSNP Substitution Missense p.(Gly217Val) Gly127Val - - COL1A2_00138
14 c.659G>A - Substitution Missense p.(Gly220Asp) Gly130Asp - - COL1A2_00521
14 c.671G>A - Substitution Missense p.(Arg224His) - - - COL1A2_00589
14i c.693+1G>A
  (Reported 3 times)
dbSNP Substitution Splice site - - - - COL1A2_00245
14i c.693+1G>C - Substitution Splice site - - - - COL1A2_00494
14i c.693+1G>T - Substitution Splice site - - - - COL1A2_00482
14i c.693+2T>A dbSNP Substitution Splice site - - - - COL1A2_00247
14i c.693+2T>C dbSNP Substitution Splice site - - - - COL1A2_00246
14i c.693+3delA - Deletion Splice site - - - - COL1A2_00415
14i c.693+5G>A - Substitution Splice site - - - - COL1A2_00516
14i c.694-2A>C - Substitution Splice site - - - - COL1A2_00288
14i c.694-2A>G - Substitution Splice site - - - - COL1A2_00547
15 c.700C>T - Substitution Missense p.(Arg234Cys) Arg144Cys - - COL1A2_00293
15i c.739-2A>G dbSNP Substitution Splice site - - - - COL1A2_00248
15i c.739-1G>C dbSNP Substitution Splice site - - - - COL1A2_00280
15 c.792G>C - Substitution Missense p.(Lys264Asn) Lys174Asn - - COL1A2_00600
16 c.739G>C - Substitution Missense p.(Gly247Arg) Gly157Arg - - COL1A2_00385
16 c.740G>A
  (Reported 3 times)
dbSNP Substitution Missense p.(Gly247Asp) Gly157Asp - - COL1A2_00012
16 c.740G>T - Substitution Missense p.(Gly247Val) Gly157Val - - COL1A2_00619
16 c.758G>A
  (Reported 3 times)
dbSNP Substitution Missense p.(Gly253Asp) Gly163Asp - - COL1A2_00013
16 c.767G>A
  (Reported 2 times)
dbSNP Substitution Missense p.(Gly256Asp) Gly166Asp - - COL1A2_00014
16 c.767G>T
  (Reported 3 times)
dbSNP Substitution Missense p.(Gly256Val) Gly166Val - - COL1A2_00015
16 c.775G>A - Substitution Missense p.(Gly259Ser) Gly169Ser - - COL1A2_00511
16 c.776G>A - Substitution Missense p.(Gly259Asp) Gly169Asp - - COL1A2_00577
16i c.792+1G>A
  (Reported 2 times)
dbSNP Substitution Splice site - - - - COL1A2_00249
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Legend: [ COL1A2 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. COL1A2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.