Full data view for gene FUS

Information The variants shown are described using the NM_004960.3 transcript reference sequence.

132 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
?/. 2 c.122A>G r.(?) p.(Tyr41Cys) - - Unknown g.31193917A>G Cinzia Bertolin, Carla D'Ascenzo, Giorgia Querin, et al. (2014) FUS_000063 - ? ? ALS Cinzia Bertolin, Carla D'Ascenzo, Giorgia Querin, et al. (2014) - - 1 XY Liu
./. 3 c.175_176insGG r.(?) p.(Gln60Alafs*126) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.31193970_31193971insGG Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009) FUS_000001 - ? ? ALS "Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009) - - 1 Y Yang
?/. 5 c.419A>G r.(?) p.(Gln140Arg) - - Unknown g.31195613A>G Zhang-Yu Zou, et al. (2021) FUS_000073 - ? ? ALS Zhang-Yu Zou, et al. (2021) - - 1 XY Liu
./. 5 c.420G>T r.(?) p.(Gln140His) - - Unknown g.31195614G>T Ferrer I et al. (2015) FUS_000038 - ? ? FTLD Ferrer I et al. (2015) - uncertain significance 1 XY Liu
?/. 5 c.453C>T r.(=) p.(=) - - Unknown g.31195647C>T Z-Y Zou, Y Peng, X-H Feng, X-N Wang, Q Sun, M-S Liu, X-G Li, L-Y Cui (2012) FUS_000053 - ? ? ALS Z-Y Zou, Y Peng, X-H Feng, X-N Wang, Q Sun, M-S Liu, X-G Li, L-Y Cui (2012) Chinese - 1 XY Liu
./. 5i c.523+3_523+4insGAGGTG r.spl? p.? VariO:0142 DNA insertion - Unknown g.31195720_31195721insGAGGTG Sproviero W1, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A(2012) FUS_000024 - ? ? ALS Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L (2012) - - 1 Y Yang
?/. 6 c.559G>A r.(?) p.(Gly187Ser) - - Unknown g.31196295G>A Rosa Rademakers, Heather Stewart, Mariely Dejesus-Hernandez, et al. FUS_000050 - ? ? ALS Rosa Rademakers, Heather Stewart, Mariely Dejesus-Hernandez, et al. - - 1 XY Liu
?/. 6 c.571G>A r.(?) p.(Gly191Ser) - - Unknown g.31196307G>A Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. FUS_000040 - ? ? ALS Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. Italian - 1 XY Liu
?/. 6 c.646C>T r.(?) p.(Arg216Cys) - - Unknown g.31196382C>T Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. FUS_000041 - ? ? ALS Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. Italian - 1 XY Liu
?/. 6 c.648C>T r.(=) p.(=) - - Unknown g.31196384C>T Z-Y Zou, Y Peng, X-H Feng, X-N Wang, Q Sun, M-S Liu, X-G Li, L-Y Cui (2012) FUS_000054 - ? ? ALS Z-Y Zou, Y Peng, X-H Feng, X-N Wang, Q Sun, M-S Liu, X-G Li, L-Y Cui (2012) Chinese - 1 XY Liu
?/. 6 c.674G>T r.(?) p.(Gly225Val) - - Unknown g.31196410G>T Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. FUS_000042 - ? ? ALS Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. Italian - 1 XY Liu
?/. 6 c.688G>T r.(?) p.(Gly230Cys) - - Unknown g.31196424G>T Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. FUS_000043 - ? ? ALS Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. Italian - 1 XY Liu
?/. 6 c.700C>T r.(?) p.(Arg234Cys) - - Unknown g.31196436C>T Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. FUS_000044 - ? ? ALS Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. Italian - 1 XY Liu
./. 6 c.730C>T r.(?) p.(Arg244Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.31196466C>T Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009) FUS_000002 - ? ? ALS "Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009) - - 1 Y Yang
./. 6 c.734G>T r.(?) p.(Gly245Val) - - Unknown g.31196470G>T 26176978 et al. (2015) FUS_000030 - ? ? ALS 26176978 et al. (2015) - - 1 XY Liu
./. 6 c.760A>G r.(?) p.(Met254Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.31196496A>G Van Langenhove T1, van der Zee J, Sleegers K, Engelborghs S, Vandenberghe R, Gijselinck I, Van den Broeck M, Mattheijssens M, Peeters K, De Deyn PP, Cruts M, Van Broeckhoven C.(2010) FUS_000023 - ? ? FTLD Van Langenhove T1, van der Zee J, Sleegers K, Engelborghs S, Vandenberghe R, Gijselinck I, Van den Broeck M, Mattheijssens M, Peeters K, De Deyn PP, Cruts M, Van Broeckhoven C.(2010) - - 1 Y Yang
?/. 13 c.1385C>T r.(?) p.(Ser462Phe) - - Unknown g.31202155C>T Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al. FUS_000046 - ? ? ALS Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al. Dutch - 1 XY Liu
./. 13 c.1392G>T r.(?) p.(Met464Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202162G>T Nagayama S1, Minato-Hashiba N, Nakata M, Kaito M, Nakanishi M, Tanaka K, Arai M, Akiyama H, Matsui M.(2012) FUS_000019 - ? ? ALS Nagayama S1, Minato-Hashiba N, Nakata M, Kaito M, Nakanishi M, Tanaka K, Arai M, Akiyama H, Matsui M.(2012) - - 1 Y Yang
?/. 13i c.1393+34G>C r.(=) p.(=) - - Unknown g.31202197G>C Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L (2012) FUS_000052 - ? ? ALS Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L (2012) - - 1 XY Liu
./. 13i c.1394-2A>G r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.31202282A>G Kim YE1, Oh KW2, Kwon MJ3, Choi WJ2, Oh SI4, Ki CS5, Kim SH6.(2015 FUS_000028 - ? ? ALS Kim YE1, Oh KW2, Kwon MJ3, Choi WJ2, Oh SI4, Ki CS5, Kim SH6.(2015 Korean - 1 Y Yang
+/. 13i c.1394-2A>G r.spl? p.G466VfsX14 - - Unknown g.31202282A>G Mariely DeJesus-Hernandez, Jannet Kocerha, NiCole Finch, et al. FUS_000028 - ? ? ALS Mariely DeJesus-Hernandez, Jannet Kocerha, NiCole Finch, et al. - - 1 XY Liu
?/. 14 c.1432_1478del r.(?) p.(Gly478Leufs*23) - - Unknown g.31202322_31202368del Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013) FUS_000058 - ? ? ALS Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013) Germany - 1 XY Liu
?/. 14 c.1456_1457del r.(?) p.(Gly486Profs*30) - - Unknown g.31202346_31202347del Z-J Liu, et al. (2017) FUS_000067 - ? ? ALS Z-J Liu, et al. (2017) Chinese - 1 XY Liu
?/. 14 c.1464C>T r.(=) p.(=) - - Unknown g.31202354C>T Z-Y Zou, Y Peng, X-H Feng, X-N Wang, Q Sun, M-S Liu, X-G Li, L-Y Cui (2012) FUS_000055 - ? ? ALS Z-Y Zou, Y Peng, X-H Feng, X-N Wang, Q Sun, M-S Liu, X-G Li, L-Y Cui (2012) Chinese - 1 XY Liu
./. 14 c.1475delG r.(?) p.(Gly492Glufs*37) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.31202365delG Yamashita S1, Mori A, Sakaguchi H, Suga T, Ishihara D, Ueda A, Yamashita T, Maeda Y, Uchino M, Hirano T.(2012) FUS_000017 - ? ? ALS Yamashita S1, Mori A, Sakaguchi H, Suga T, Ishihara D, Ueda A, Yamashita T, Maeda Y, Uchino M, Hirano T.(2012) - - 1 Y Yang
./. 14 c.1483C>T r.(?) p.(Arg495*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.31202373C>T Waibel S1, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013) FUS_000021 - ? ? ALS Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013) Germany - 1 Y Yang
./. 14 c.1483C>T r.(?) p.(Arg495*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.31202373C>T Calvo A1, Moglia C1, Canosa A1, Brunetti M2, Barberis M2, Traynor BJ3, Carrara G4, Valentini C4, Restagno G2, Chiò A5.(2014) FUS_000021 - ? ? ALS Calvo A1, Moglia C1, Canosa A1, Brunetti M2, Barberis M2, Traynor BJ3, Carrara G4, Valentini C4, Restagno G2, Chiò A5.(2014) - - 1 Y Yang
./. 14 c.1483C>T r.(?) p.(Arg495*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.31202373C>T Kim YE1, Oh KW2, Kwon MJ3, Choi WJ2, Oh SI4, Ki CS5, Kim SH6.(2015 FUS_000021 - ? ? ALS Kim YE1, Oh KW2, Kwon MJ3, Choi WJ2, Oh SI4, Ki CS5, Kim SH6.(2015 Korean - 1 Y Yang
./. 14 c.1483C>T r.(?) p.(Arg495*) - - Unknown g.31202373C>T Lim SM et al. (2016) FUS_000021 - ? ? ALS Lim SM et al. (2016) - - 1 XY Liu
?/. 14 c.1483C>T r.(?) p.(Arg495*) - - Unknown g.31202373C>T S Waibel, M Neumann, M Rabe, T Meyer, A C Ludolph FUS_000021 - ? ? ALS S Waibel, M Neumann, M Rabe, T Meyer, A C Ludolph Germany - 1 XY Liu
?/. 14 c.1483C>T r.(?) p.(Arg495*) - - Unknown g.31202373C>T Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou, Xun-Zhe Yang (2013) FUS_000021 - ? ? ALS Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou, Xun-Zhe Yang (2013) Chinese - 1 XY Liu
?/. 14 c.1483C>T r.(?) p.(Arg495*) - - Unknown g.31202373C>T Xiaolong Yu, et al. (2018) FUS_000021 - ? ? ALS Xiaolong Yu, et al. (2018) - - 1 XY Liu
?/. 14 c.1483C>T r.(?) p.(Arg495*) - - Unknown g.31202373C>T Katherine Claire Dodd, et al. (2019) FUS_000021 - ? ? ALS Katherine Claire Dodd, et al. (2019) British - 1 XY Liu
?/. 14 c.1486del r.(?) p.(Gly497Alafs*32) - - Unknown g.31202376del Cinzia Bertolin, Carla D'Ascenzo, Giorgia Querin, et al. (2014) FUS_000064 - ? ? ALS Cinzia Bertolin, Carla D'Ascenzo, Giorgia Querin, et al. (2014) - - 1 XY Liu
?/. 14 c.1489_1490dup r.(?) p.(Arg498Alafs*32) - - Unknown g.31202379_31202380dup Z-J Liu, et al. (2017) FUS_000068 - ? ? ALS Z-J Liu, et al. (2017) Chinese - 1 XY Liu
?/. 14 c.1504del r.(?) p.(Asp502Thrfs*27) - - Unknown g.31202394del Annemarie Hübers, Walter Just, Angela Rosenbohm et al. (2015) FUS_000065 - ? ? ALS Annemarie Hübers, Walter Just, Angela Rosenbohm et al. (2015) Germany - 1 XY Liu
./. 14 c.1507_1508delAG r.(?) p.(?) - - Unknown g.31202397_31202398delAG Hirayanagi K et al. (2016) FUS_000034 - ? ? ALS Hirayanagi K et al. (2016) - - 1 XY Liu
?/. 14 c.1509dup r.(?) p.(Gly504Argfs*13) - - Unknown g.31202399dup Li Chen, et al. (2020) FUS_000070 - ? ? ALS Li Chen, et al. (2020) Chinese - 1 XY Liu
?/. 14 c.1509dup r.(?) p.(Gly504Argfs*13) - - Unknown g.31202399dup Li Chen, et al. (2020) FUS_000070 - ? ? ALS Li Chen, et al. (2020) Chinese - 1 XY Liu
?/. 14 c.1509_1510del r.(?) p.(Gly504Trpfs*12) - - Unknown g.31202399_31202400del Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou, Xun-Zhe Yang (2013) FUS_000057 - ? ? ALS Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou, Xun-Zhe Yang (2013) Chinese - 1 XY Liu
+/. 14 c.1509_1510del r.(?) p.(Gly504Trpfs*12) - - Unknown g.31202399_31202400del Paola Lanteri, et al. (2021) FUS_000057 - ? ? ALS Paola Lanteri, et al. (2021) - - 1 XY Liu
?/. 14 c.1510dup r.(?) p.(Gly505Trpfs*12) - - Unknown g.31202400dup Xiaolong Yu, et al. (2018) FUS_000069 - ? ? ALS Xiaolong Yu, et al. (2018) - - 1 XY Liu
+/. 14 c.1520del r.(?) p.(Gly507Alafs*22) - - Unknown g.31202410del Ying Wu, et al. (2022) FUS_000076 - ? ? ALS Ying Wu, et al. (2022) Chinese - 1 XY Liu
?/. 14 c.1520G>A r.(?) p.(Gly507Asp) - - Unknown g.31202410G>A Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. FUS_000045 - ? ? ALS Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. Italian - 1 XY Liu
+/. 14 c.1520G>A r.(?) p.(Gly507Asp) - - Unknown g.31202410G>A Ilaria Martinelli, et al. (2022) FUS_000045 - ? ? ALS Ilaria Martinelli, et al. (2022) - - 1 XY Liu
./. 14 c.1526G>A r.(?) p.(Gly509Asp) - - Unknown g.31202416G>A 26176978 et al. (2015) FUS_000031 - ? ? ALS 26176978 et al. (2015) - - 1 XY Liu
?/. 14 c.1528A>G r.(?) p.(Lys510Glu) - - Unknown g.31202418A>G Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al. FUS_000048 - ? ? ALS Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al. Japanese - 1 XY Liu
?/. 14 c.1528A>G r.(?) p.(Lys510Glu) - - Unknown g.31202418A>G Andrew King, Claire Troakes, Bradley Smith et al. (2015) FUS_000048 - ? ? ALS Andrew King, Claire Troakes, Bradley Smith et al. (2015) - - 1 XY Liu
./. 14 c.1529A>G r.(?) p.(Lys510Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.31202419A>G Waibel S1, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013) FUS_000020 - ? ? ALS Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013) Germany - 1 Y Yang
?/. 14 c.1529A>G r.(?) p.(Lys510Arg) - - Unknown g.31202419A>G S Waibel, M Neumann, M Rabe, T Meyer, A C Ludolph FUS_000020 - ? ? ALS S Waibel, M Neumann, M Rabe, T Meyer, A C Ludolph Germany - 1 XY Liu
./. 14 c.1529A>T r.(?) p.(Lys510Met) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202419A>T Mochizuki Y1, Kawata A, Maruyama H, Homma T, Watabe K, Kawakami H, Komori T, Mizutani T, Matsubara S.(2014) FUS_000022 - ? ? ALS Mochizuki Y1, Kawata A, Maruyama H, Homma T, Watabe K, Kawakami H, Komori T, Mizutani T, Matsubara S.(2014) Japanese - 1 Y Yang
?/. 14 c.1537T>C r.(?) p.(Ser513Pro) - - Unknown g.31202427T>C Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al. FUS_000047 - ? ? ALS Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al. Japanese - 1 XY Liu
./. 15 c.1540A>G r.(?) p.(Arg514Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.31202430A>G Vance C1, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G(2009) FUS_000013 - ? ? ALS "Vance C1, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A(2009) - - 1 Y Yang
?/. 14 c.1540A>G r.(?) p.(Arg514Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.31202430A>G Waibel S1, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013) FUS_000013 - ? ? ALS Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013) Germany - 1 Y Yang
?/. 14i c.1541+1G>A r.spl? p.? - - Unknown g.31202432G>A Feng Wang, et al. (2020) FUS_000074 - ? ? ALS Feng Wang, et al. (2020) Chinese - 1 XY Liu
?/. 14i c.1542-1G>T r.spl? p.? - - Unknown g.31202719G>T Antonio Canosa, et al. (2022) FUS_000075 - ? ? ALS Antonio Canosa, et al. (2022) - - 1 XY Liu
?/. 15 c.1542G>C r.(?) p.(Arg514Ser) - - Unknown g.31202720G>C Adriano Chiò, Gabriella Restagno, Maura Brunetti, et al. FUS_000039 - ? ? ALS Adriano Chiò, Gabriella Restagno, Maura Brunetti, et al. Italian - 1 XY Liu
./. 15 c.1542G>T r.(?) p.(Arg514Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202720G>T Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009) FUS_000003 - ? ? ALS "Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009) - - 1 Y Yang
./. 15 c.1542G>T r.(?) p.(Arg514Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202720G>T Robertson J1, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E.(2011) FUS_000003 - ? ? ALS Robertson J1, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E.(2011) - - 1 Y Yang
./. 15 c.1542G>T r.(?) p.(Arg514Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202720G>T Yamashita S1, Mori A, Sakaguchi H, Suga T, Ishihara D, Ueda A, Yamashita T, Maeda Y, Uchino M, Hirano T.(2012) FUS_000003 - ? ? ALS Yamashita S1, Mori A, Sakaguchi H, Suga T, Ishihara D, Ueda A, Yamashita T, Maeda Y, Uchino M, Hirano T.(2012) - - 1 Y Yang
./. 15 c.1543G>T r.(?) p.(Gly515Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202721G>T Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009) FUS_000004 - ? ? ALS "Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009) - - 1 Y Yang
?/. 15 c.1544del r.(?) p.(Gly515Valfs*14) - - Unknown g.31202722del Z-J Liu, et al. (2017) FUS_000066 - ? ? ALS Z-J Liu, et al. (2017) Chinese - 1 XY Liu
./. 15 c.1547A>T r.(?) p.(Glu516Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202725A>T Robertson J1, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E.(2011) FUS_000016 - ? ? ALS Robertson J1, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E.(2011) - - 1 Y Yang
./. 15 c.1549C>G r.(?) p.(His517Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202727C>G Tsai CP1, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011) FUS_000015 - ? ? ALS Tsai CP1, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011) Taiwanese - 1 Y Yang
?/. 15 c.1550A>C r.(?) p.(His517Pro) - - Unknown g.31202728A>C Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al. FUS_000049 - ? ? ALS Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al. Japanese - 1 XY Liu
./. 15 c.1551C>A r.(?) p.(His517Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202729C>A Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009) FUS_000005 - ? ? ALS "Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009) - - 1 Y Yang
./. 15 c.1551C>A r.(?) p.(His517Gln) - - Unknown g.31202729C>A Gromicho M et al. (2017) FUS_000005 - ? ? ALS Gromicho M et al. (2017) - - 1 XY Liu
./. 15 c.1553G>A r.(?) p.(Arg518Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.31202731G>A Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009) FUS_000006 - ? ? ALS "Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009) - - 1 Y Yang
?/. 15 c.1554_1557del r.(?) p.(Gln519Ilefs*9) - - Unknown g.31202732_31202735del D Bäumer, D Hilton, S M L Paine, M R Turner, J Lowe, K Talbot, O Ansorge FUS_000051 - ? ? ALS D Bäumer, D Hilton, S M L Paine, M R Turner, J Lowe, K Talbot, O Ansorge - - 1 XY Liu
./. 15 c.1555C>G r.(?) p.(Gln519Glu) - - Unknown g.31202733C>G Lim SM et al. (2016) FUS_000033 - ? ? ALS Lim SM et al. (2016) - - 1 XY Liu
./. 15 c.1561C>A r.(?) p.(Arg521Ser) - - Unknown g.31202739C>A McCann EP et al. (2017) FUS_000037 - ? ? ALS McCann EP et al. (2017) Australian - 1 XY Liu
?/. 15 c.1561C>A r.(?) p.(Arg521Ser) - - Unknown g.31202739C>A Stéphanie Millecamps, François Salachas, Cécile Cazeneuve, et al. FUS_000037 - ? ? ALS Stéphanie Millecamps, François Salachas, Cécile Cazeneuve, et al. - - 1 XY Liu
./. 15 c.1561C>G r.(?) p.(Arg521Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202739C>G Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009) FUS_000007 - ? ? ALS "Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009) - - 1 Y Yang
./. 15 c.1561C>G r.(?) p.(Arg521Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202739C>G Sproviero W1, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A(2012) FUS_000007 - ? ? ALS Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L (2012) - - 1 Y Yang
./. 15 c.1561C>G r.(?) p.(Arg521Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.31202739C>G Mochizuki Y1, Kawata A, Hashimoto T, Akiyama H, Kawakami H, Komori T, Oyanagi K, Mizutani T, Matsubara S.(2014) FUS_000007 - ? ? ALS Mochizuki Y1, Kawata A, Hashimoto T, Akiyama H, Kawakami H, Komori T, Oyanagi K, Mizutani T, Matsubara S.(2014) - - 1 Y Yang
?/. 15 c.1561C>G r.(?) p.(Arg521Gly) - - Unknown g.31202739C>G Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou, Xun-Zhe Yang (2013) FUS_000007 - ? ? ALS Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou, Xun-Zhe Yang (2013) Chinese - 1 XY Liu
+/. 15 c.1561C>G r.(?) p.(Arg521Gly) - - Unknown g.31202739C>G C M Flies, J H Veldink (2020) FUS_000007 - ? ? ALS C M Flies, J H Veldink (2020) - - 1 XY Liu
./. 15 c.1561C>T r.(?) p.(Arg521Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.31202739C>T Drepper C1, Herrmann T, Wessig C, Beck M, Sendtner M.(2001) FUS_000014 - ? ? ALS Drepper C, Herrmann T, Wessig C, Beck M, Sendtner M.(2001) Germany - 1 Y Yang
./. 15 c.1561C>T r.(?) p.(Arg521Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.31202739C>T Chiò A1, Calvo A, Moglia C, Ossola I, Brunetti M, Sbaiz L, Lai SL, Abramzon Y, Traynor BJ, Restagno G.(2011) FUS_000014 - ? ? ALS Chiò A1, Calvo A, Moglia C, Ossola I, Brunetti M, Sbaiz L, Lai SL, Abramzon Y, Traynor BJ, Restagno G.(2011) - - 1 Y Yang
./. 15 c.1561C>T r.(?) p.(Arg521Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.31202739C>T Sproviero W1, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A(2012) FUS_000014 - ? ? ALS Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L (2012) - - 1 Y Yang
./. 15 c.1561C>T r.(?) p.(Arg521Cys) - - Unknown g.31202739C>T McCann EP et al. (2017) FUS_000014 - ? ? ALS McCann EP et al. (2017) Australian - 1 XY Liu
?/. 15 c.1561C>T r.(?) p.(Arg521Cys) - - Unknown g.31202739C>T Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. FUS_000014 - ? ? ALS Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al. Italian - 1 XY Liu
?/. 15 c.1561C>T r.(?) p.(Arg521Cys) - - Unknown g.31202739C>T P Van Damme, A Goris, V Race, N Hersmus, B Dubois, L Van Den Bosch, G Matthijs, W Robberecht FUS_000014 - ? ? ALS P Van Damme, A Goris, V Race, N Hersmus, B Dubois, L Van Den Bosch, G Matthijs, W Robberecht Belgian - 1 XY Liu
+/. 15 c.1561C>T r.(?) p.(Arg521Cys) - - Unknown g.31202739C>T Takahisa Tateishi, Toshihiro Hokonohara, Ryo Yamasaki, et al. FUS_000014 - ? ? ALS Takahisa Tateishi, Toshihiro Hokonohara, Ryo Yamasaki, et al. Japanese - 1 XY Liu
?/. 15 c.1561C>T r.(?) p.(Arg521Cys) - - Unknown g.31202739C>T Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al. FUS_000014 - ? ? ALS Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al. Dutch - 1 XY Liu
?/. 15 c.1561C>T r.(?) p.(Arg521Cys) - - Unknown g.31202739C>T Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al. FUS_000014 - ? ? ALS Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al. Japanese - 1 XY Liu
?/. 15 c.1561C>T r.(?) p.(Arg521Cys) - - Unknown g.31202739C>T Rosa Rademakers, Heather Stewart, Mariely Dejesus-Hernandez, et al. FUS_000014 - ? ? ALS Rosa Rademakers, Heather Stewart, Mariely Dejesus-Hernandez, et al. - - 1 XY Liu
?/. 15 c.1561C>T r.(?) p.(Arg521Cys) - - Unknown g.31202739C>T Yukiko Yamamoto-Watanabe, Mitsunori Watanabe, Koichi Okamoto, et al. FUS_000014 - ? ? ALS Yukiko Yamamoto-Watanabe, Mitsunori Watanabe, Koichi Okamoto, et al. Japanese - 1 XY Liu
?/. 15 c.1561C>T r.(?) p.(Arg521Cys) - - Unknown g.31202739C>T Masashi Aoki, Hitoshi Warita, Naoki Suzuki, Masaaki Kato (2012) FUS_000014 - ? ? ALS Masashi Aoki, Hitoshi Warita, Naoki Suzuki, Masaaki Kato (2012) Japanese - 1 XY Liu
+/. 15 c.1561C>T r.(?) p.(Arg521Cys) - - Unknown g.31202739C>T Mario Sabatelli, Alice Moncada, Amelia Conte, et al. (2013) FUS_000014 - ? ? ALS Mario Sabatelli, Alice Moncada, Amelia Conte, et al. (2013) - - 1 XY Liu
?/. 15 c.1561C>T r.(?) p.(Arg521Cys) - - Unknown g.31202739C>T Zhang-Yu Zou, et al. (2021) FUS_000014 - ? ? ALS Zhang-Yu Zou, et al. (2021) - - 1 XY Liu
./. 15 c.1562G>A r.(?) p.(Arg521His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.31202740G>A Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009) FUS_000008 - ? ? ALS "Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009) - - 1 Y Yang
./. 15 c.1562G>A r.(?) p.(Arg521His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.31202740G>A Tsai CP1, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011) FUS_000008 - ? ? ALS Tsai CP, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011) Taiwanese - 1 Y Yang
./. 15 c.1562G>A r.(?) p.(Arg521His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.31202740G>A Zou ZY1, Peng Y, Feng XH, Wang XN, Sun Q, Liu MS, Li XG, Cui LY.(2012) FUS_000008 - ? ? ALS Zou ZY1, Peng Y, Feng XH, Wang XN, Sun Q, Liu MS, Li XG, Cui LY.(2012) Chinese - 1 Y Yang
./. 15 c.1562G>A r.(?) p.(Arg521His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.31202740G>A Waibel S1, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013) FUS_000008 - ? ? ALS Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013) Germany - 1 Y Yang
./. 15 c.1562G>A r.(?) p.(Arg521His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.31202740G>A Broustal O1, Camuzat A, Guillot-No?l L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Le Ber I, Brice A(2010) FUS_000008 - ? ? FTLD "Broustal O1, Camuzat A, Guillot-No?l L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Le Ber I(2010) - - 1 Y Yang
./. 15 c.1562G>A r.(?) p.(Arg521His) - - Unknown g.31202740G>A Hou L et al. (2016) FUS_000008 - ? ? ALS Hou L et al. (2016) Chinese - 1 XY Liu
./. 15 c.1562G>A r.(?) p.(Arg521His) - - Unknown g.31202740G>A McCann EP et al. (2017) FUS_000008 - ? ? ALS McCann EP et al. (2017) Australian - 1 XY Liu
?/. 15 c.1562G>A r.(?) p.(Arg521His) - - Unknown g.31202740G>A Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al. FUS_000008 - ? ? ALS Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al. Dutch - 1 XY Liu
?/. 15 c.1562G>A r.(?) p.(Arg521His) - - Unknown g.31202740G>A Oriane Broustal, Agnès Camuzat, Lena Guillot-Noël, et al. FUS_000008 - ? ? ALS, FTLD Oriane Broustal, Agnès Camuzat, Lena Guillot-Noël, et al. - - 1 XY Liu
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