LOVD - Variant listings for COL5A1

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196 entries
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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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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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01-11 chr9.hg19:g.(137,440,166_137,442,686)_(137,633,699_137,638,368)dup - Duplication Other - - - - COL5A1_00164
01 c.66G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00069
01 c.74T>C - Substitution Missense p.(Leu25Pro) - - - COL5A1_00051
01 c.74T>G - Substitution Missense p.(Leu25Arg) - - - COL5A1_00050
01 c.87G>A - Substitution Nonsense p.(Trp29*) - - - COL5A1_00147
02 c.160G>T - Substitution Nonsense p.(Gly54*) - - - COL5A1_00106
02 c.193C>T - Substitution Missense p.Arg65Trp - - - COL5A1_00203
02 c.196C>T - Substitution Nonsense p.(Arg66*) - - - COL5A1_00175
02i c.277+1G>T - Substitution Splice site - - - COL5A1_00039
02i c.278-2A>C - Substitution Splice site - - - - COL5A1_00210
03 c.278C>T dbSNP Substitution Missense p.(Ala93Val) - - - COL5A1_00070
03 c.311C>G
  (Reported 2 times)
- Substitution Missense p.(Thr104Arg) - - - COL5A1_00193
03 c.379C>T
  (Reported 2 times)
- Substitution Nonsense p.(Gln127*) - - - COL5A1_00107
03 c.466delC - Deletion Frameshift p.(Arg156Glyfs*24) - - - COL5A1_00022
03i c.491+2T>G - Substitution Splice site - - - - COL5A1_00029
04 c.495G>A - Substitution Nonsense p.(Trp165*) - - - COL5A1_00004
04 c.514G>T - Substitution Missense p.Val172Phe - - - COL5A1_00204
04 c.532A>C - Substitution Missense p.(Thr178Pro) - - - COL5A1_00148
04 c.554dupA - Duplication Frameshift p.(Lys186Glufs*29) - - - COL5A1_00108
04 c.574G>A - Substitution Missense p.(Asp192Asn) - - - COL5A1_00053
04i c.655-2A>G - Substitution Splice site - - - - COL5A1_00048
05-06 c.(654+1_655-1)_(924+1_925-1)del - Deletion Multi-exon deletion - - - - COL5A1_00194
05 c.664C>T - Substitution Nonsense p.(Gln222*) - - - COL5A1_00016
05 c.701_702dup - Duplication Frameshift p.(Asp235Metfs*53) - - - COL5A1_00110
05 c.738C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00055
05 c.757C>T - Substitution Nonsense p.(Gln253*) - - - COL5A1_00197
06 c.831C>A - Substitution Nonsense p.(Tyr277*) - - - COL5A1_00190
06i c.925-2A>G - Substitution Splice site - - - - COL5A1_00099
06i c.925-1G>C - Substitution Splice site p.[Tyr263_Glu338del;Tyr263_Asn388del] - - - COL5A1_00109
07 c.1041C>G - Substitution Nonsense p.(Tyr347*) - - - COL5A1_00168
07 c.1053_1063del - Deletion Frameshift p.(Tyr352Hisfs*44) - - - COL5A1_00111
07 c.1062C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00071
07 c.1092C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00054
07 c.1115C>A - Substitution Missense p.(Ala372Asp) - - - COL5A1_00192
07 c.1158C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00072
07i c.1165-2A>G - Substitution Splice site p.(Pro389Leufs*168) - - - COL5A1_00149
08 c.1293del - Deletion Frameshift p.(Pro432Argfs*126) - - - COL5A1_00112
9 c.1360C>T - Substitution Nonsense p.(Gln454*) - - - COL5A1_00105
09 c.1383C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00073
10 c.1402G>T - Substitution Nonsense p.(Glu468*) - - - COL5A1_00113
10 c.1418del - Deletion Frameshift p.(Pro473Glnfs*85) - - - COL5A1_00114
10 c.1424G>A - Substitution Missense p.(Gly475Asp) - - - COL5A1_00115
10 c.1431G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00074
11 c.1477G>A - Substitution Missense p.(Gly493Arg) - - - COL5A1_00116
12 c.1502del - Deletion Frameshift p.(Pro501Leufs*57) - - - COL5A1_00117
12 c.1532G>T - Substitution Missense p.(Gly511Val) - - - COL5A1_00169
12 c.1541dup - Duplication Frameshift p.(Pro515Serfs*101) - - - COL5A1_00173
12 c.1566G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00075
13 c.1588G>A
  (Reported 7 times)
dbSNP Substitution Missense p.(Gly530Ser) - - - COL5A1_00026
13 c.1601delC - Deletion Frameshift p.(Gly536Alafs*22) - - - COL5A1_00067
13 c.1651C>T - Substitution Nonsense p.(Gln551*) - - - COL5A1_00150
13 c.1654C>T - Substitution Nonsense p.(Gln552*) - - - COL5A1_00005
13i c.1663-11T>A - Substitution Splice site - - - - COL5A1_00045
13i c.1663-2A>G - Substitution Splice site - - - - COL5A1_00044
14 c.1670dupT - Duplication Frameshift p.(Arg558Glufs*58) - - - COL5A1_00187
16 c.1780C>T
  (Reported 2 times)
- Substitution Nonsense p.(Arg594*) - - - COL5A1_00018
17 c.1855G>T - Substitution Nonsense p.(Gly619*) - - - COL5A1_00014
18 c.1906del - Deletion Frameshift p.(Ala636Leufs*168) - - - COL5A1_00118
19 c.1943delC - Deletion Frameshift p.(Pro648Leufs*156) - - - COL5A1_00102
19i c.1989+1G>A
  (Reported 2 times)
- Substitution Splice site - - - - COL5A1_00007
20 c.2014del - Deletion Frameshift p.(Arg672Glyfs*132) - - - COL5A1_00119
20 c.2031G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00076
20i c.2034+1G>A - Substitution Splice site - - - - COL5A1_00101
20i c.2034+1G>T - Substitution Splice site - - - - COL5A1_00186
22 c.2903delC - Deletion Frameshift p.Pro968Leufs*106 - - - COL5A1_00188
23 c.2159dup - Duplication Frameshift p.(Gly721Argfs*5) - - - COL5A1_00120
23 c.2185C>T - Substitution Nonsense p.(Gln729*) - - - COL5A1_00166
27 c.2374C>T - Substitution Nonsense p.(Arg792*) - - - COL5A1_00040
27i c.2385+1G>A - Substitution Splice site - - - - COL5A1_00121
27i c.2385+263_2430+908del - Deletion Exon deletion p.(Ala797_Gly811del) - - - COL5A1_00122
28 c.2386-1G>A - Substitution Splice site - - - - COL5A1_00008
28 c.2389del - Deletion Frameshift p.(Ala797Profs*7) - - - COL5A1_00123
28i c.2430+1G>A - Substitution Splice site - - - - COL5A1_00038
29 c.2436A>T - Substitution Missense p.(Glu812Asp) - - - COL5A1_00151
30 c.2531G>C dbSNP Substitution Missense p.(Gly844Ala) - - - COL5A1_00077
30 c.2552_2553del - Deletion Frameshift p.(Pro851Glnfs*3) - - - COL5A1_00100
31i c.2647-12A>G - Substitution Splice site p.(Gly883Leufs*195) - - - COL5A1_00152
32 c.2657delG - Deletion Frameshift p.(Gly886Aspfs*188) - - - COL5A1_00066
32i c.2700+1G>T - Substitution Splice site - - - - COL5A1_00020
32i c.2701-25T>G
  (Reported 2 times)
- Substitution Splice site - - - - COL5A1_00047
33 c.2724G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00078
34 c.2757_2774delinsA - Insertion/Deletion Frameshift p.(Glu920Hisfs*14) - - - COL5A1_00153
34 c.2765G>A - Substitution Missense p.(Gly922Asp) - - - COL5A1_00165
34 c.2770dup - Duplication Frameshift p.(Arg924Profs*16) - - - COL5A1_00124
35i c.2844+1G>A - Substitution Splice site - - - - COL5A1_00009
35i c.2845-2A>C - Substitution Splice site - - - - COL5A1_00010
36 c.2852A>G dbSNP Substitution Missense p.(Asn951Ser) - - - COL5A1_00079
36 c.2891dup - Duplication Frameshift p.(Gly967Trpfs*47) - - - COL5A1_00154
36 c.2892C>T - Substitution Silent p.(=) - - - COL5A1_00056
36i c.2899-1G>A - Substitution Splice site p.(Gly967Alafs*107) - - - COL5A1_00125
37i c.2952+2_2952+3del - Deletion Exon skip p.(Gly967_Thr984del) - - - COL5A1_00155
38 c.2988del
  (Reported 3 times)
- Deletion Frameshift p.(Gly997Alafs*77) - - - COL5A1_00156
38 c.2988dup
  (Reported 2 times)
- Duplication Frameshift p.(Gly997Argfs*17) - - - COL5A1_00126
39 c.3037G>T - Substitution Nonsense p.(Glu1013*) - - - COL5A1_00127
39 c.3050dup - Duplication Frameshift p.(Gly1018Trpfs*8) - - - COL5A1_00128
39 c.3069dup - Duplication Frameshift p.(Gly1024Argfs*2) - - - COL5A1_00129
39 c.3110del - Deletion Frameshift p.(Thr1037Argfs*37) - - - COL5A1_00024
40 c.3164T>A - Substitution Nonsense p.(Leu1055*) - - - COL5A1_00182
40 c.3181del - Deletion Frameshift p.(Asp1061Thrfs*13) - - - COL5A1_00178
40 c.3184C>T
  (Reported 2 times)
- Substitution Nonsense p.(Arg1062*) - - - COL5A1_00028
1 - 100
[<-] 1 2 [->]


Legend: [ COL5A1 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. 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. COL5A1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.