NDDVD - Neurodegenerative Diseases Variation Database
ERCC6 (excision repair cross-complementation group 6)
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Curator:
Y Yang
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All variants in the ERCC6 gene
The variants shown are described using the NM_000124.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Variant/VariO/DNA
: VariO of DNA
Variant/VariO/protein
: VariO of protein
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency
: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
73 entries on 1 page. Showing entries 1 - 73.
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Legend
How to query
Effect
Exon
DNA change (cDNA)
RNA change
Protein
Variant/VariO/DNA
Variant/VariO/protein
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Owner
./.
2
c.202_211del10
r.(?)
p.(Arg68Profs*13)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50740800_50740809del10
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000053
-
Y Yang
./.
2
c.229C>T
r.(?)
p.(Arg77*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50740782G>A
Hashimoto S, Suga T, Kudo E, Ihn H, Uchino M, Tateishi S.(2008)
ERCC6_000001
-
Y Yang
./.
2
c.229_232del4
r.(?)
p.(Arg77Ilefs*6)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50740779_50740782del4
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000054
-
Y Yang
./.
3
c.466C>T
r.(?)
p.(Gln156*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50738843G>A
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000002
-
Y Yang
./.
3
c.526C>T
r.(?)
p.(Arg176*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50738783G>A
Luo Y1, Ling Y1, Chen J1, Xu X1, Chen C1, Leng F1, Cheng J1, Chen M2, Lu Z1.(2014)
ERCC6_000069
-
Y Yang
./.
4
c.550C>T
r.(?)
p.(Gln184*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50736565G>A
Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999)
ERCC6_000003
-
Y Yang
./.
4i
c.653-1G>A
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
g.50732824C>T
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000032
-
Y Yang
./.
5
c.665_723del59
r.(?)
p.(Ser222Tyrfs*25)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50732753_50732811del59
Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)
ERCC6_000055
-
Y Yang
./.
5
c.707G>A
r.(?)
p.(Trp236*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0015 protein truncation
g.50732769C>T
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000007
-
Y Yang
./.
5
c.972_973insA
r.(?)
p.(Glu325Argfs*44)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
g.50732503_50732504insT
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000038
-
Y Yang
./.
5
c.1009A>T
r.(?)
p.(Lys337*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
g.50732467T>A
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000004
-
Y Yang
./.
5
c.1034_1035insA
r.(?)
p.(Val346Serfs*23)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
g.50732441_50732442insT
Falik-Zaccai TC1, Laskar M, Kfir N, Nasser W, Slor H, Khayat M.(2008)
ERCC6_000033
-
Y Yang
./.
5
c.1051_1052insT
r.(?)
p.(Ala351Valfs*18)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
g.50732424_50732425insA
Colella S1, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M.(1999)
ERCC6_000034
-
Y Yang
./.
5
c.1053_1054insTGTC
r.(?)
p.(Arg352Cysfs*18)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
g.50732422_50732423insGACA
Colella S1, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M.(1999)
ERCC6_000035
-
Y Yang
./.
5
c.1135G>T
r.(?)
p.(Glu379*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
g.50732341C>A
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000005
-
Y Yang
./.
5
c.1248_1249dup
r.(?)
p.(Val417Glufs*24)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
g.50732227_50732228dup
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000036
-
Y Yang
./.
5
c.1281_1282insT
r.(?)
p.(Pro428Serfs*8)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
g.50732194_50732195insA
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000037
-
Y Yang
./.
5
c.1293_1320del28
r.(?)
p.(Glu432Lysfs*25)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50732156_50732183del28
Xin B1, Wang H.(2013)
ERCC6_000031
-
Y Yang
./.
5
c.1357C>T
r.(?)
p.(Arg453*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50732119G>A
Colella S1, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M.(1999)
ERCC6_000006
-
Y Yang
./.
5
c.1357C>T
r.(?)
p.(Arg453*)
-
-
g.50732119G>A
Zhou Z et al. (2016)
ERCC6_000006
-
XY Liu
./.
5
c.1387C>T
r.(?)
p.(Gln463*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50732089G>A
Zhang H1, Gao J, Ye J, Gong Z, Gu X.(2011)
ERCC6_000030
-
Y Yang
./.
5i
c.1398-2A>G
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
g.50714060T>C
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000039
-
Y Yang
./.
7
c.1550G>A
r.(?)
p.(Trp517*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0015 protein truncation
g.50708719C>T
Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)
ERCC6_000008
-
Y Yang
./.
7
c.1595A>G
r.(?)
p.(Asp532Gly)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.50708674T>C
Yu S1, Chen L2, Ye L1, Fei L1, Tang W1, Tian Y1, Geng Q2, Yi X1, Xie J2.(2014)
ERCC6_000070
-
Y Yang
./.
7
c.1597delG
r.(?)
p.(Glu533Lysfs*10)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50708672delC
Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)
ERCC6_000040
-
Y Yang
./.
7
c.1607T>G
r.(?)
p.(Leu536Trp)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.50708662A>C
Yu S1, Chen L2, Ye L1, Fei L1, Tang W1, Tian Y1, Geng Q2, Yi X1, Xie J2.(2014)
ERCC6_000071
-
Y Yang
./.
7
c.1607T>G
r.(?)
p.(Leu536Trp)
-
-
g.50708662A>C
Zhou Z et al. (2016)
ERCC6_000071
-
XY Liu
./.
9
c.1911_1992del82
r.(?)
p.(Arg637Serfs*34)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50691392_50691473del82
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000056
-
Y Yang
./.
9
c.1954C>T
r.(?)
p.(Arg652*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50691430G>A
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000009
-
Y Yang
./.
9
c.1974_1975insTGTC
r.(?)
p.(Thr659Cysfs*24)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
g.50691409_50691410insGACA
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000041
-
Y Yang
./.
9
c.1993_2169del177
r.(?)
p.(Phe665_Gln723del)
VariO:0141 DNA deletion
VariO:0016 sequence retaining amino acid deletion
g.50690733_50690909del177
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000057
-
Y Yang
./.
9
c.2008C>T
r.(?)
p.(Arg670Trp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.50690894G>A
Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)
ERCC6_000010
-
Y Yang
./.
10
c.2038A>G
r.(?)
p.(Asn680Asp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.50690864T>C
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000011
-
Y Yang
./.
10
c.2047C>T
r.(?)
p.(Arg683*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50690855G>A
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000012
-
Y Yang
./.
10
c.2058G>T
r.(?)
p.(Trp686Cys)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.50690844C>A
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000013
-
Y Yang
./.
10
c.2060C>T
r.(?)
p.(Ser687Leu)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.50690842G>A
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000014
-
Y Yang
./.
10
c.2143G>T
r.(?)
p.(Gly715*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
g.50690759C>A
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000015
-
Y Yang
./.
10
c.2167C>T
r.(?)
p.(Gln723*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50690735G>A
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000016
-
Y Yang
./.
11
c.2170_2286del117
r.spl?
p.?
VariO:0141 DNA deletion
-
g.50686400_50686516del117
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000058
-
Y Yang
./.
11
c.2203C>T
r.(?)
p.(Arg735*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50686483G>A
Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)
ERCC6_000017
-
Y Yang
./.
11
c.2247delT
r.(?)
p.(Asp749Glufs*4)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50686439delA
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000042
-
Y Yang
./.
11
c.2254_2286del33
r.(?)
p.(Met752_Gln762del)
VariO:0141 DNA deletion
VariO:0016 sequence retaining amino acid deletion
g.50686400_50686432del33
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000059
-
Y Yang
./.
11i
c.2287-1G>A
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
g.50684357C>T
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000043
-
Y Yang
./.
12
c.2287_2382del96
r.spl?
p.?
VariO:0141 DNA deletion
-
g.50684261_50684356del96
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000060
-
Y Yang
./.
13
c.2499_2598del100
r.spl?
p.?
VariO:0141 DNA deletion
-
g.50682073_50682172del100
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000061
-
Y Yang
./.
13
c.2551T>C
r.(?)
p.(Trp851Arg)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.50682120A>G
Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)
ERCC6_000018
-
Y Yang
./.
13
c.2560C>T
r.(?)
p.(Gln854*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50682111G>A
Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)
ERCC6_000019
-
Y Yang
./.
13
c.2569C>T
r.(?)
p.(Arg857*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50682102G>A
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000020
-
Y Yang
./.
13
c.2578_2580delCTG
r.(?)
p.(Leu860del)
VariO:0141 DNA deletion
VariO:0016 sequence retaining amino acid deletion
g.50682091_50682093delCAG
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000044
-
Y Yang
./.
13i
c.2599-26A>G
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
g.50681659T>C
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V,(2010)
ERCC6_000066
-
Y Yang
./.
14
c.2612T>C
r.(?)
p.(Leu871Pro)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.50681620A>G
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000021
-
Y Yang
./.
14
c.2677_2701del25
r.(?)
p.(Ser893Thrfs*12)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50681531_50681555del25
Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999)
ERCC6_000064
-
Y Yang
./.
15i
c.2829+1G>T
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0316 transversion
-
g.50680954C>A
Xin B1, Wang H.(2013)
ERCC6_000052
-
Y Yang
./.
16
c.2867_2870delAAGT
r.(?)
p.(Gln956Argfs*7)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50680476_50680479delACTT
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000045
-
Y Yang
./.
16
c.2870T>G
r.(?)
p.(Val957Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.50680476A>C
Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)
ERCC6_000022
-
Y Yang
./.
16i
c.2925-2A>G
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
g.50679168T>C
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000046
-
Y Yang
./.
17
c.2960T>C
r.(?)
p.(Leu987Pro)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.50679131A>G
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000023
-
Y Yang
./.
18
c.3125C>T
r.(?)
p.(Pro1042Leu)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.50678881G>A
Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999)
ERCC6_000024
-
Y Yang
./.
18
c.3259C>T
r.(?)
p.(Arg1087*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50678747G>A
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000025
-
Y Yang
./.
18
c.3284C>G
r.(?)
p.(Pro1095Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.50678722G>C
Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)
ERCC6_000026
-
Y Yang
./.
18
c.3514A>T
r.(?)
p.(Lys1172*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
g.50678492T>A
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000027
-
Y Yang
./.
18
c.3535delT
r.(?)
p.(Tyr1179Ilefs*22)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50678471delA
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000047
-
Y Yang
./.
18
c.3536delA
r.(?)
p.(Tyr1179Leufs*22)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50678470delT
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000048
-
Y Yang
./.
18
c.3592_3593insGA
r.(?)
p.(Lys1198Argfs*4)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
g.50678413_50678414insTC
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000049
-
Y Yang
./.
18
c.3607_3632del26
r.(?)
p.(Lys1203Leufs*7)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50678374_50678399del26
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000062
-
Y Yang
./.
18
c.3615del1
r.(?)
p.(Lys1205Asnfs*22)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50678391del1
Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999)
ERCC6_000065
-
Y Yang
./.
18
c.3637A>G
r.(?)
p.(Arg1213Gly)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.50678369T>C
Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998)
ERCC6_000028
-
Y Yang
./.
18
c.3715del1
r.(?)
p.(Lys1239Argfs*28)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50678291del1
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000063
-
Y Yang
./.
19
c.3789_3790delCA
r.(?)
p.(His1263Glnfs*67)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50669591_50669592delTG
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000050
-
Y Yang
./.
19
c.3794_3795del
r.(?)
p.(Val1265Aspfs*65)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
g.50669586_50669587del
Meira LB1, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC.(2000)
ERCC6_000067
-
Y Yang
./.
19
c.3862C>T
r.(?)
p.(Arg1288*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.50669519G>A
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000029
-
Y Yang
./.
19i
c.3983+2T>G
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0316 transversion
-
g.50669396A>C
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J(2010)
ERCC6_000051
-
Y Yang
./.
20i
c.4063-1G>C
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0316 transversion
-
g.50667281C>G
Laugel V1, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V,(2010)
ERCC6_000068
-
Y Yang
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