All variants affecting transcripts

6289 entries on 63 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
ABCA7 NM_019112.3 19 Unknown g.1058551A>G Sherif FF et al. (2015),dbSNP ABCA7_000001 - XY Liu ./. 37i c.5150-66A>G r.(=) p.(=) - -
ABCA7 NM_019112.3 19 Unknown g.1050420A>G Cukier HN et al. (2016) ABCA7_000002 - XY Liu ./. 19i c.2553-500A>G r.(=) p.(=) - -
ABCA7 NM_019112.3 19 Unknown g.1046907_1046950del Cukier HN et al. (2016) ABCA7_000003 - XY Liu ./. 14 c.1729_1772del r.(?) p.(Arg578Alafs*171) - -
ABCA7 NM_019112.3 19 Unknown g.1063443A>G Cuyvers E et al. (2016)dbSNP ABCA7_000004 - XY Liu ./. 42i c.5713-100A>G r.(=) p.(=) - -
ABCA7 NM_019112.3 19 Unknown g.1052853A>G Cuyvers E et al. (2016)dbSNP ABCA7_000005 - XY Liu ./. 23i c.3221-475A>G r.(=) p.(=) - -
ABCA7 NM_019112.3 19 Unknown g.1046520T>G Laiterä T et al. (2017),dbSNP ABCA7_000006 - XY Liu ./. 13i c.1622+115T>G r.(=) p.(=) - -
ABCA7 NM_019112.3 19 Unknown g.1046520T>G Wang YQ et al. (2016),dbSNP ABCA7_000006 - XY Liu ./. 13i c.1622+115T>G r.(=) p.(=) - -
ABCA7 NM_019112.3 19 Unknown g.1047161A>G Chung SJ et al. (2013),dbSNP ABCA7_000007 - XY Liu ./. 14 c.1851A>G r.(=) p.(=) - -
ABCB1 NM_000927.4 7 Unknown g.87171659T>C Hohman TJ et al. (2016),dbSNP ABCB1_000001 - XY Liu ./. 10i c.2212-879A>G r.(=) p.(=) - -
ADCY5 NM_183357.2 3 Unknown g.123044168C>T Carapito R et al. (2015) ADCY5_000001 - XY Liu ./. 8i c.2088+1G>A r.spl? p.? - -
ADORA1 NM_000674.2 1 Unknown g.203134882G>A Jaberi E et al. (2016) ADORA1_000001 - XY Liu ./. 4 c.835G>A r.(?) p.(Gly279Ser) - -
ADRA1A NM_000680.3 8 Unknown g.26694790A>G Hohman TJ et al. (2016),dbSNP ADRA1A_000001 - XY Liu ./. 2i c.883+26814T>C r.(=) p.(=) - -
AFG3L2 NM_006796.2 18 Unknown g.12351329G>A Charif M et al. (2015) AFG3L2_000001 - XY Liu ./. 11 c.1402C>T r.(?) p.(Arg468Cys) - -
AFG3L2 NM_006796.2 18 Unknown g.12337450A>G Löbbe AM et al. (2014) AFG3L2_000002 - XY Liu ./. 16 c.2065T>C r.(?) p.(Tyr689His) - -
AFG3L2 NM_006796.2 18 Unknown g.12363837C>T Qu J et al. (2015) AFG3L2_000003 - XY Liu ./. 6 c.571G>A r.(?) p.(Val191Ile) - -
AFG3L2 NM_006796.2 18 Unknown g.12337450A>T Zühlke C et al. (2015) AFG3L2_000004 - XY Liu ./. 16 c.2065T>A r.(?) p.(Tyr689Asn) - -
AGBL3 NM_178563.3 7 Unknown g.134678273C>T Vélez JI et al. (2016)dbSNP AGBL3_000001 - XY Liu ./. 4 c.154C>T r.(?) p.(Arg52Trp) - -
ALS2 NM_020919.3 2 Unknown g.202575821G>A Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000001 - Y Yang ./. 26 c.4015C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
ALS2 NM_020919.3 2 Unknown g.202626437T>C Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000002 - Y Yang ./. 4 c.280A>G r.(?) p.(Ile94Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
ALS2 NM_020919.3 2 Unknown g.202569395T>A - ALS2_000016 - Y Yang ./. 31i c.4689-69A>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion -
ALS2 NM_020919.3 2 Unknown g.202589144delT Eymard-Pierre E1, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O.(2002) ALS2_000003 - Y Yang ./. 21 c.3386delA r.(?) p.(Asp1129Valfs*15) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
ALS2 NM_020919.3 2 Unknown g.202593280G>A Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000004 - Y Yang ./. 15 c.2796C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
ALS2 NM_020919.3 2 Unknown g.202614432T>C - ALS2_000017 - Y Yang ./. 8i c.1815+3A>G r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
ALS2 NM_020919.3 2 Unknown g.202582895A>C Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000006 - Y Yang ./. 24 c.3741T>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion -
ALS2 NM_020919.3 2 Unknown g.202598113C>T Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000007 - Y Yang ./. 13 c.2466G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
ALS2 NM_020919.3 2 Unknown g.202625615C>T Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000008 - Y Yang ./. 4 c.1102G>A r.(?) p.(Val368Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
ALS2 NM_020919.3 2 Unknown g.202606507G>A Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000009 - Y Yang ./. 11 c.2241C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
ALS2 NM_020919.3 2 Unknown g.202619333G>A Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000011 - Y Yang ./. 6 c.1533C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
ALS2 NM_020919.3 2 Unknown g.202626242C>T Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000013 - Y Yang ./. 4 c.475G>A r.(?) p.(Glu159Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
ALS2 NM_020919.3 2 Unknown g.202633582A>G Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000020 - Y Yang ./. 2i c.20+7T>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
ALS2 NM_020919.3 2 Unknown g.202582748_202582749insA - ALS2_000018 - Y Yang ./. 24i c.3836+51_3836+52insT r.(=) p.(=) VariO:0142 DNA insertion -
ALS2 NM_020919.3 2 Unknown g.202587867delA - ALS2_000019 - Y Yang ./. 22i c.3625-24delT r.(=) p.(=) VariO:0141 DNA deletion -
ALS2 NM_020919.3 2 Unknown g.202625942_202625943delAT Eymard-Pierre E1, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O.(2002) ALS2_000010 - Y Yang ./. 4 c.774_775delAT r.(?) p.(Leu259Argfs*22) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
ALS2 NM_020919.3 2 Unknown g.202622509T>C Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000021 - Y Yang ./. 4i c.1114-27A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
ALS2 NM_020919.3 2 Unknown g.202619317_202619318delCT Hadano S1, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR(2001) ALS2_000005 - Y Yang ./. 6 c.1548_1549delAG r.(?) p.(Glu516Aspfs*31) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
ALS2 NM_020919.3 2 Unknown g.202611138G>A Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000022 - Y Yang ./. 9i c.1998+151C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
ALS2 NM_020919.3 2 Unknown g.202591607C>T Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000023 - Y Yang ./. 17i c.2980-18G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
ALS2 NM_020919.3 2 Unknown g.202626164delT Kress JA1, Kühnlein P, Winter P, Ludolph AC, Kassubek J, Müller U, Sperfeld AD.(2005) ALS2_000012 - Y Yang ./. 4 c.553delA r.(?) p.(Thr185Leufs*5) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
ALS2 NM_020919.3 2 Unknown g.202589257T>C Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000024 - Y Yang ./. 20i c.3348-75A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
ALS2 NM_020919.3 2 Unknown g.202571562C>T Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000025 - Y Yang ./. 29i c.4580+7G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
ALS2 NM_020919.3 2 Unknown g.202571562C>T Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000025 - Y Yang ./. 29i c.4580+7G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
ALS2 NM_020919.3 2 Unknown g.202611419_202611420delAG Yang Y1, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T.(2001) ALS2_000014 - Y Yang ./. 9 c.1867_1868delCT r.(?) p.(Leu623Valfs*24) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
ALS2 NM_020919.3 2 Unknown g.202593315G>A Wakil SM1, Ramzan K2, Abuthuraya R2, Hagos S2, Al-Dossari H2, Al-Omar R2, Murad H3, Chedrawi A3, Al-Hassnan ZN4, Finsterer J5, Bohlega S3.(2014) ALS2_000015 - Y Yang ./. 15 c.2761C>T r.(?) p.(Arg921*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation
ALS2 NM_020919.3 2 Unknown g.202589017C>T Siddiqi S1, Foo JN2, Vu A3, Azim S4, Silver DL5, Mansoor A1, Tay SK6, Abbasi S7, Hashmi AH1, Janjua J8, Khalid S7, Tai ES9, Yeo GW10, Khor CC11.(2014) ALS2_000027 - Y Yang ./. 21i c.3512+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
ALS2 NM_020919.3 2 Unknown g.202631982C>T Flor-de-Lima F1, Sampaio M2, Nahavandi N3, Fernandes S4, Le?o M5.(2014) ALS2_000026 - Y Yang ./. 3 c.145G>A r.(?) p.(Gly49Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21161887G>A Greenway MJ1, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O.(2006) ANG_000001 - Y Yang ./. 1 c.164G>A r.(?) p.(Arg55Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21161914A>T Greenway MJ1, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O.(2006) ANG_000002 - Y Yang ./. 1 c.191A>T r.(?) p.(Lys64Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21162132G>A Gellera C1, Colombrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, Taroni F, Silani V.(2007) ANG_000003 - Y Yang ./. 1 c.409G>A r.(?) p.(Val137Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21161844A>G Greenway MJ1, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O.(2006) ANG_000004 - Y Yang ./. 1 c.121A>G r.(?) p.(Lys41Glu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21162136A>G Gellera C1, Colombrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, Taroni F, Silani V.(2008) ANG_000005 - Y Yang ./. 1 c.413A>G r.(?) p.(His138Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21161878G>A Wu D1, Yu W, Kishikawa H, Folkerth RD, Iafrate AJ, Shen Y, Xin W, Sims K, Hu GF.(2007) ANG_000006 - Y Yang ./. 1 c.155G>A r.(?) p.(Ser52Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21161726G>T Gellera C1, Colombrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, Taroni F, Silani V.(2008) ANG_000007 XYZ19940216 Y Yang ./. 1 c.3G>T r.? p.(Met1Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21161758T>C Gellera C1, Colombrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, Taroni F, Silani V.(2008) ANG_000008 - Y Yang ./. 1 c.35T>C r.(?) p.(Phe12Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21161855C>T Gellera C1, Colombrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, Taroni F, Silani V.(2008) ANG_000009 - Y Yang ./. 1 c.132C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
ANG NM_001145.4 14 Unknown g.21161845A>T Wu D1, Yu W, Kishikawa H, Folkerth RD, Iafrate AJ, Shen Y, Xin W, Sims K, Hu GF.(2007) ANG_000010 - Y Yang ./. 1 c.122A>T r.(?) p.(Lys41Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21161845A>T Greenway MJ1, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O.(2006) ANG_000010 - Y Yang ./. 1 c.122A>T r.(?) p.(Lys41Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21161830A>T Greenway MJ1, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O.(2006) ANG_000011 - Y Yang ./. 1 c.107A>T r.(?) p.(Gln36Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21162053T>C Conforti FL1, Sprovieri T, Mazzei R, Ungaro C, La Bella V, Tessitore A, Patitucci A, Magariello A, Gabriele AL, Tedeschi G, Simone IL, Majorana G, Valentino P, Condino F, Bono F, Monsurrò MR, Muglia M, Quattrone A.(2008) ANG_000012 - Y Yang ./. 1 c.330T>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
ANG NM_001145.4 14 Unknown g.21162053T>C Corrado L1, Battistini S, Penco S, Bergamaschi L, Testa L, Ricci C, Giannini F, Greco G, Patrosso MC, Pileggi S, Causarano R, Mazzini L, Momigliano-Richiardi P, D'Alfonso S.(2007) ANG_000012 - Y Yang ./. 1 c.330T>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
ANG NM_001145.4 14 Unknown g.21162053T>C Greenway MJ1, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O.(2006) ANG_000012 - Y Yang ./. 1 c.330T>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
ANG NM_001145.4 14 Unknown g.21161784C>T Gellera C1, Colombrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, Taroni F, Silani V.(2008) ANG_000013 - Y Yang ./. 1 c.61C>T r.(?) p.(Pro21Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21161784C>T Wu D1, Yu W, Kishikawa H, Folkerth RD, Iafrate AJ, Shen Y, Xin W, Sims K, Hu GF.(2007) ANG_000013 - Y Yang ./. 1 c.61C>T r.(?) p.(Pro21Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21162130C>T Wu D1, Yu W, Kishikawa H, Folkerth RD, Iafrate AJ, Shen Y, Xin W, Sims K, Hu GF.(2007) ANG_000014 - Y Yang ./. 1 c.407C>T r.(?) p.(Pro136Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21161912C>G Greenway MJ1, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O.(2006) ANG_000015 - Y Yang ./. 1 c.189C>G r.(?) p.(Cys63Trp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21161931A>G Corrado L1, Battistini S, Penco S, Bergamaschi L, Testa L, Ricci C, Giannini F, Greco G, Patrosso MC, Pileggi S, Causarano R, Mazzini L, Momigliano-Richiardi P, D'Alfonso S.(2007) ANG_000016 - Y Yang ./. 1 c.208A>G r.(?) p.(Ile70Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21161931A>G Greenway MJ1, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O.(2006) ANG_000016 - Y Yang ./. 1 c.208A>G r.(?) p.(Ile70Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
ANG NM_001145.4 14 Unknown g.21162169C>T Gellera C1, Colombrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, Taroni F, Silani V.(2008) ANG_000018 - Y Yang ./. 3UTR c.*2C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
ANG NM_001145.4 14 Unknown g.21162156C>T Luigetti M1, Lattante S, Zollino M, Conte A, Marangi G, Del Grande A, Sabatelli M.(2011) ANG_000017 - Y Yang ./. 1 c.433C>T r.(?) p.(Arg145Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
ANKS1B NM_152788.4 12 Unknown g.99806854T>C Scholz CJ et al. (2017),dbSNP ANKS1B_000001 - XY Liu ./. 11i c.1576-13265A>G r.(=) p.(=) - -
ANKS1B NM_152788.4 12 Unknown g.99808812T>C Scholz CJ et al. (2017),dbSNP ANKS1B_000002 - XY Liu ./. 11i c.1576-15223A>G r.(=) p.(=) - -
ANKS1B NM_152788.4 12 Unknown g.99808873A>G Scholz CJ et al. (2017),dbSNP ANKS1B_000003 - XY Liu ./. 11i c.1576-15284T>C r.(=) p.(=) - -
ANKS1B NM_152788.4 12 Unknown g.99809105T>C Scholz CJ et al. (2017),dbSNP ANKS1B_000004 - XY Liu ./. 11i c.1576-15516A>G r.(=) p.(=) - -
ANKS1B NM_152788.4 12 Unknown g.99810799G>A Scholz CJ et al. (2017),dbSNP ANKS1B_000005 - XY Liu ./. 11i c.1576-17210C>T r.(=) p.(=) - -
APEX1 NM_001641.3 14 Unknown g.20925154T>G Hayward C1, Colville S, Swingler RJ, Brock DJ.(1999) APEX1_000001 - Y Yang ./. 4 c.444T>G r.(?) p.(Asp148Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
APOA1 NM_000039.1 11 Unknown g.116707841C>G Nichols WC1, Gregg RE, Brewer HB Jr, Benson MD.(1990) APOA1_000001 - Y Yang ./. 3 c.76G>C r.(?) p.(Glu26Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
APOE NM_000041.3 19 Unknown g.45412079C>T Cuyvers E et al. (2016)dbSNP APOE_000001 - XY Liu ./. 4 c.526C>T r.(?) p.(Arg176Cys) - -
APOE NM_000041.3 19 Unknown g.45411941T>C Cuyvers E et al. (2016)dbSNP APOE_000002 - XY Liu ./. 4 c.388T>C r.(?) p.(Cys130Arg) - -
APOE NM_000041.3 19 Unknown g.45410002G>A Bras J et al. (2014),dbSNP APOE_000003 - XY Liu ./. 2i c.43+78G>A r.(=) p.(=) - -
APOE NM_000041.3 19 Unknown g.45411941T>C Bras J et al. (2016,dbSNP APOE_000002 - XY Liu ./. 3 c.388T>C r.(?) p.(Cys130Arg) - -
APOE NM_000041.3 19 Unknown g.45412079C>T Bras J et al. (2016,dbSNP APOE_000001 - XY Liu ./. 4 c.526C>T r.(?) p.(Arg176Cys) - -
APOE NM_000041.3 19 Unknown g.[45408836T>G];[45408836T=] Pérez-Palma E et al. (2014),dbSNP APOE_000004 - XY Liu ./. 5'UTR c.[-286T>G];[-286T=] r.(?) p.(?) - -
APOE NM_000041.3 19 Unknown g.45412079C>T Chung SJ et al. (2013),dbSNP APOE_000001 - XY Liu ./. 4 c.526C>T r.(?) p.(Arg176Cys) - -
APP NM_000484.3 21 Unknown g.27269956C>G Peacock ML1, Murman DL, Sima AA, Warren JT Jr, Roses AD, Fink JK.(1994) APP_000001 - Y Yang ./. 16 c.1993G>C r.(?) p.(Glu665Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27269939C>A Mullan M1, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, Lannfelt L.(1992) APP_000002 - Y Yang ./. 16 c.2010G>T r.(?) p.(Lys670Asn) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27269938T>G Mullan M1, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, Lannfelt L.(1992) APP_000003 - Y Yang ./. 16 c.2011A>C r.(?) p.(Met671Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27269917C>T Wakutani Y1, Watanabe K, Adachi Y, Wada-Isoe K, Urakami K, Ninomiya H, Saido TC, Hashimoto T, Iwatsubo T, Nakashima K.(2004) APP_000004 - Y Yang ./. 16 c.2032G>A r.(?) p.(Asp678Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27264170G>C Hendriks L1, van Duijn CM, Cras P, Cruts M, Van Hul W, van Harskamp F, Warren A, McInnis MG, Antonarakis SE, Martin JJ, et al.(1992) APP_000005 - Y Yang ./. 17 c.2075C>G r.(?) p.(Ala692Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27264167T>C Kamino K1, Orr HT, Payami H, Wijsman EM, Alonso ME, Pulst SM, Anderson L, O'dahl S, Nemens E, White JA, et al.(1992) APP_000006 - Y Yang ./. 17 c.2078A>G r.(?) p.(Glu693Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27264121G>A Balbín M1, Abrahamson M, Gustafson L, Nilsson K, Brun A, Grubb A.(1992) APP_000007 - Y Yang ./. 17 c.2124C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
APP NM_000484.3 21 Unknown g.27264108C>T Rossi G1, Giaccone G, Maletta R, Morbin M, Capobianco R, Mangieri M, Giovagnoli AR, Bizzi A, Tomaino C, Perri M, Di Natale M, Tagliavini F, Bugiani O, Bruni AC.(2004) APP_000008 XYZ19940216 Y Yang ./. 17 c.2137G>A r.(?) p.(Ala713Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27264105T>C Pasalar P1, Najmabadi H, Noorian AR, Moghimi B, Jannati A, Soltanzadeh A, Krefft T, Crook R, Hardy J.(2002) APP_000009 - Y Yang ./. 17 c.2140A>G r.(?) p.(Thr714Ala) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27264104G>A Kumar-Singh S1, De Jonghe C, Cruts M, Kleinert R, Wang R, Mercken M, De Strooper B, Vanderstichele H, L?fgren A, Vanderhoeven I, Backhovens H, Vanmechelen E, Kroisel PM, Van Broeckhoven C.(2000) APP_000010 - Y Yang ./. 17 c.2141C>T r.(?) p.(Thr714Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27264102C>T Ancolio K1, Dumanchin C, Barelli H, Warter JM, Brice A, Campion D, Frébourg T, Checler F.(1999) APP_000011 - Y Yang ./. 17 c.2143G>A r.(?) p.(Val715Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27264099T>C Eckman CB1, Mehta ND, Crook R, Perez-tur J, Prihar G, Pfeiffer E, Graff-Radford N, Hinder P, Yager D, Zenk B, Refolo LM, Prada CM, Younkin SG, Hutton M, Hardy J.(1997) APP_000012 - Y Yang ./. 17 c.2146A>G r.(?) p.(Ile716Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27264096C>A Murrell J1, Farlow M, Ghetti B, Benson MD.(1991) APP_000013 - Y Yang ./. 17 c.2149G>T r.(?) p.(Val717Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27264095A>C Chartier-Harlin MC1, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J, et al.(1991) APP_000014 - Y Yang ./. 17 c.2150T>G r.(?) p.(Val717Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27264096C>T Goate A1, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L, et al.(1991) APP_000015 - Y Yang ./. 17 c.2149G>A r.(?) p.(Val717Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27264096C>G Murrell JR1, Hake AM, Quaid KA, Farlow MR, Ghetti B.(2000) APP_000016 - Y Yang ./. 17 c.2149G>C r.(?) p.(Val717Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27264077A>G Kwok JB1, Li QX, Hallupp M, Whyte S, Ames D, Beyreuther K, Masters CL, Schofield PR.(2000) APP_000017 - Y Yang ./. 17 c.2168T>C r.(?) p.(Leu723Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
APP NM_000484.3 21 Unknown g.27264096C>G Hooli BV1, Mohapatra G, Mattheisen M, Parrado AR, Roehr JT, Shen Y, Gusella JF, Moir R, Saunders AJ, Lange C, Tanzi RE, Bertram L.(2012) APP_000016 - Y Yang ./. 17 c.2149G>C r.(?) p.(Val717Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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