Full data view for gene ERCC6

Information The variants shown are described using the NM_000124.3 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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./. 2 c.202_211del10 r.(?) p.(Arg68Profs*13) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 2 c.229C>T r.(?) p.(Arg77*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.50740782G>A Hashimoto S, Suga T, Kudo E, Ihn H, Uchino M, Tateishi S.(2008) ERCC6_000001 - ? ? CS Hashimoto S, Suga T, Kudo E, Ihn H, Uchino M, Tateishi S.(2008) - - 1 Y Yang
./. 2 c.229_232del4 r.(?) p.(Arg77Ilefs*6) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 3 c.466C>T r.(?) p.(Gln156*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 3 c.526C>T r.(?) p.(Arg176*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.50738783G>A Luo Y1, Ling Y1, Chen J1, Xu X1, Chen C1, Leng F1, Cheng J1, Chen M2, Lu Z1.(2014) ERCC6_000069 - ? ? CS Luo Y1, Ling Y1, Chen J1, Xu X1, Chen C1, Leng F1, Cheng J1, Chen M2, Lu Z1.(2014) Chinese - 1 Y Yang
./. 4 c.550C>T r.(?) p.(Gln184*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.50736565G>A Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999) ERCC6_000003 - ? ? CS Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999) - - 1 Y Yang
./. 4i c.653-1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 5 c.665_723del59 r.(?) p.(Ser222Tyrfs*25) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.50732753_50732811del59 Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) ERCC6_000055 - ? ? CS Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) - - 1 Y Yang
./. 5 c.707G>A r.(?) p.(Trp236*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 5 c.972_973insA r.(?) p.(Glu325Argfs*44) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 5 c.1009A>T r.(?) p.(Lys337*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 5 c.1034_1035insA r.(?) p.(Val346Serfs*23) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.50732441_50732442insT Falik-Zaccai TC1, Laskar M, Kfir N, Nasser W, Slor H, Khayat M.(2008) ERCC6_000033 - ? ? CS Falik-Zaccai TC1, Laskar M, Kfir N, Nasser W, Slor H, Khayat M.(2008) - - 1 Y Yang
./. 5 c.1051_1052insT r.(?) p.(Ala351Valfs*18) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.50732424_50732425insA Colella S1, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M.(1999) ERCC6_000034 - ? ? CS Colella S1, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M.(1999) - - 1 Y Yang
./. 5 c.1053_1054insTGTC r.(?) p.(Arg352Cysfs*18) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.50732422_50732423insGACA Colella S1, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M.(1999) ERCC6_000035 - ? ? CS Colella S1, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M.(1999) - - 1 Y Yang
./. 5 c.1135G>T r.(?) p.(Glu379*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 5 c.1248_1249dup r.(?) p.(Val417Glufs*24) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 5 c.1281_1282insT r.(?) p.(Pro428Serfs*8) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 5 c.1293_1320del28 r.(?) p.(Glu432Lysfs*25) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.50732156_50732183del28 Xin B1, Wang H.(2013) ERCC6_000031 - ? ? CS Xin B1, Wang H.(2013) - - 1 Y Yang
./. 5 c.1357C>T r.(?) p.(Arg453*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.50732119G>A Colella S1, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M.(1999) ERCC6_000006 - ? ? CS Colella S1, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M.(1999) - - 1 Y Yang
./. 5 c.1357C>T r.(?) p.(Arg453*) - - Unknown g.50732119G>A Zhou Z et al. (2016) ERCC6_000006 - ? ? CS Zhou Z et al. (2016) Chinese - 1 XY Liu
./. 5 c.1387C>T r.(?) p.(Gln463*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.50732089G>A Zhang H1, Gao J, Ye J, Gong Z, Gu X.(2011) ERCC6_000030 - ? ? CS Zhang H1, Gao J, Ye J, Gong Z, Gu X.(2011) - - 1 Y Yang
./. 5i c.1398-2A>G r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 7 c.1550G>A r.(?) p.(Trp517*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation Unknown g.50708719C>T Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) ERCC6_000008 - ? ? CS Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) - - 1 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 Unknown g.50708674T>C Yu S1, Chen L2, Ye L1, Fei L1, Tang W1, Tian Y1, Geng Q2, Yi X1, Xie J2.(2014) ERCC6_000070 - ? ? CS Yu S1, Chen L2, Ye L1, Fei L1, Tang W1, Tian Y1, Geng Q2, Yi X1, Xie J2.(2014) Chinese - 1 Y Yang
./. 7 c.1597delG r.(?) p.(Glu533Lysfs*10) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.50708672delC Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) ERCC6_000040 - ? ? CS Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) - - 1 Y Yang
./. 7 c.1607T>G r.(?) p.(Leu536Trp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.50708662A>C Yu S1, Chen L2, Ye L1, Fei L1, Tang W1, Tian Y1, Geng Q2, Yi X1, Xie J2.(2014) ERCC6_000071 - ? ? CS Yu S1, Chen L2, Ye L1, Fei L1, Tang W1, Tian Y1, Geng Q2, Yi X1, Xie J2.(2014) Chinese - 1 Y Yang
./. 7 c.1607T>G r.(?) p.(Leu536Trp) - - Unknown g.50708662A>C Zhou Z et al. (2016) ERCC6_000071 - ? ? CS Zhou Z et al. (2016) Chinese - 1 XY Liu
./. 9 c.1911_1992del82 r.(?) p.(Arg637Serfs*34) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 9 c.1954C>T r.(?) p.(Arg652*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 9 c.1974_1975insTGTC r.(?) p.(Thr659Cysfs*24) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 9 c.1993_2169del177 r.(?) p.(Phe665_Gln723del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion Unknown 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 - ? ? CS "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) - - 1 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 Unknown g.50690894G>A Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) ERCC6_000010 - ? ? CS Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) - - 1 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 Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 10 c.2047C>T r.(?) p.(Arg683*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 10 c.2058G>T r.(?) p.(Trp686Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown 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 - ? ? CS "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) - - 1 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 Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 10 c.2143G>T r.(?) p.(Gly715*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 10 c.2167C>T r.(?) p.(Gln723*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 11 c.2170_2286del117 r.spl? p.? VariO:0141 DNA deletion - Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 11 c.2203C>T r.(?) p.(Arg735*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.50686483G>A Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) ERCC6_000017 - ? ? CS Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) - - 1 Y Yang
./. 11 c.2247delT r.(?) p.(Asp749Glufs*4) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 11 c.2254_2286del33 r.(?) p.(Met752_Gln762del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 11i c.2287-1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 12 c.2287_2382del96 r.spl? p.? VariO:0141 DNA deletion - Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 13 c.2499_2598del100 r.spl? p.? VariO:0141 DNA deletion - Unknown 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 - ? ? CS "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) - - 1 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 Unknown g.50682120A>G Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) ERCC6_000018 - ? ? CS Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) - - 1 Y Yang
./. 13 c.2560C>T r.(?) p.(Gln854*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.50682111G>A Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) ERCC6_000019 - ? ? CS Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) - - 1 Y Yang
./. 13 c.2569C>T r.(?) p.(Arg857*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 13 c.2578_2580delCTG r.(?) p.(Leu860del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 13i c.2599-26A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown 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 - ? ? CS "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) - - 1 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 Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 14 c.2677_2701del25 r.(?) p.(Ser893Thrfs*12) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.50681531_50681555del25 Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999) ERCC6_000064 - ? ? CS Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999) - - 1 Y Yang
./. 15i c.2829+1G>T r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.50680954C>A Xin B1, Wang H.(2013) ERCC6_000052 - ? ? CS Xin B1, Wang H.(2013) - - 1 Y Yang
./. 16 c.2867_2870delAAGT r.(?) p.(Gln956Argfs*7) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 16 c.2870T>G r.(?) p.(Val957Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.50680476A>C Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) ERCC6_000022 - ? ? CS Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) - - 1 Y Yang
./. 16i c.2925-2A>G r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown 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 - ? ? CS "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) - - 1 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 Unknown 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 - ? ? CS "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) - - 1 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 Unknown g.50678881G>A Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999) ERCC6_000024 - ? ? CS Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999) - - 1 Y Yang
./. 18 c.3259C>T r.(?) p.(Arg1087*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 18 c.3284C>G r.(?) p.(Pro1095Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.50678722G>C Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) ERCC6_000026 - ? ? CS Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) - - 1 Y Yang
./. 18 c.3514A>T r.(?) p.(Lys1172*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 18 c.3535delT r.(?) p.(Tyr1179Ilefs*22) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 18 c.3536delA r.(?) p.(Tyr1179Leufs*22) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 18 c.3592_3593insGA r.(?) p.(Lys1198Argfs*4) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 18 c.3607_3632del26 r.(?) p.(Lys1203Leufs*7) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 18 c.3615del1 r.(?) p.(Lys1205Asnfs*22) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.50678391del1 Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999) ERCC6_000065 - ? ? CS Cleaver JE1, Thompson LH, Richardson AS, States JC.(1999) - - 1 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 Unknown g.50678369T>C Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) ERCC6_000028 - ? ? CS Mallery DL1, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR.(1998) - - 1 Y Yang
./. 18 c.3715del1 r.(?) p.(Lys1239Argfs*28) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 19 c.3789_3790delCA r.(?) p.(His1263Glnfs*67) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 19 c.3794_3795del r.(?) p.(Val1265Aspfs*65) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown 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 - ? ? CS Meira LB1, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC.(2000) - - 1 Y Yang
./. 19 c.3862C>T r.(?) p.(Arg1288*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 19i c.3983+2T>G r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown 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 - ? ? CS "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) - - 1 Y Yang
./. 20i c.4063-1G>C r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown 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 - ? ? CS "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) - - 1 Y Yang
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