Full data view for gene ASPA

Information The variants shown are described using the NM_000049.2 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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./. 1 c.2T>C r.? p.Met1Thr VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3379455T>C Zhang H1, Liu X, Gu X.(2010) ASPA_000041 - ? ? CD Zhang H1, Liu X, Gu X.(2010) - - 1 Y Yang
./. 1 c.32delT r.(?) p.(Ile11Asnfs*15) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3379485delT Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) ASPA_000048 - ? ? CD Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - 1 Y Yang
./. 1 c.33_45del13 r.(?) p.(Gln12Serfs*10) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3379486_3379498del13 Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000056 - ? ? CD Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - 1 Y Yang
./. 1 c.47T>C r.(?) p.(Ile16Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3379500T>C Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) ASPA_000010 - ? ? CD Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - 1 Y Yang
./. 1 c.62A>C r.(?) p.(His21Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3379515A>C Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) ASPA_000025 - ? ? CD Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) - - 1 Y Yang
./. 1 c.71A>G r.(?) p.(Glu24Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3379524A>G Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000031 - ? ? CD Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - 1 Y Yang
./. 1 c.79G>C r.(?) p.(Gly27Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3379532G>C Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) ASPA_000011 - ? ? CD Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - 1 Y Yang
./. 1 c.79G>C r.(?) p.(Gly27Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3379532G>C Eke GH1, Iscan A, Cece H, Calik M.(2012) ASPA_000011 - ? ? CD Eke GH1, Iscan A, Cece H, Calik M.(2012) Turkish - 1 Y Yang
./. 1 c.88C>G r.(?) p.(Leu30Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3379541C>G Delaney KE1, Kralik SF2, Hainline BE3, Golomb MR4.(2015) ASPA_000057 - ? ? CD Delaney KE1, Kralik SF2, Hainline BE3, Golomb MR4.(2015) - - 1 Y Yang
./. 1 c.91G>T r.(?) p.(Val31Phe) - - Unknown g.3379544G>T Zaki OK et al. (2016) ASPA_000061 - ? ? CD Zaki OK et al. (2016) - - 1 XY Liu
./. 1 c.162C>A r.(?) p.(Asn54Lys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3379615C>A Bijarnia S1, Kohli S, Puri RD, Jacob RJ, Saxena R, Jalan A, Sistermans EA, Mahmood S, Verma IC.(2013) ASPA_000044 - ? ? CD Bijarnia S1, Kohli S, Puri RD, Jacob RJ, Saxena R, Jalan A, Sistermans EA, Mahmood S, Verma IC.(2013) - - 1 Y Yang
./. 1 c.169G>A r.(?) p.(Ala57Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3379622G>A Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) ASPA_000026 - ? ? CD Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) - - 1 Y Yang
./. 1 c.202G>A r.(?) p.(Asp68Asn) - - Unknown g.3379655G>A Ashrafi M et al. (2015) ASPA_000062 - ? ? CD Ashrafi M et al. (2015) Iranian - 1 XY Liu
./. 1 c.203A>C r.(?) p.(Asp68Ala) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3379656A>C Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000032 - ? ? CD Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - 1 Y Yang
./. 1 c.209A>G r.(?) p.(Asn70Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3379662A>G Zhang H1, Liu X, Gu X.(2010) ASPA_000042 - ? ? CD Zhang H1, Liu X, Gu X.(2010) - - 1 Y Yang
./. 1 c.212G>A r.(?) p.(Arg71His) - - Unknown g.3379665G>A Zayed H (2015) ASPA_000060 - ? ? CD Zayed H (2015) Ecuador/Non-Jewish - 1 XY Liu
./. 1 c.230A>C r.(?) p.(Asn77Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3379683A>C Di Pietro V1, Cavallari U, Amorini AM, Lazzarino G, Longo S, Poggiani C, Cavalli P, Tavazzi B.(2013) ASPA_000043 - ? ? CD Di Pietro V1, Cavallari U, Amorini AM, Lazzarino G, Longo S, Poggiani C, Cavalli P, Tavazzi B.(2013) - - 1 Y Yang
./. 1i c.237-2A>T r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.3384895A>T Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000059 - ? ? CD Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - 1 Y Yang
./. 2 c.244delA r.(?) p.(Met82Cysfs*9) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3384904delA Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000051 - ? ? CD Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - 1 Y Yang
./. 2 c.327T>A r.(?) p.(Tyr109*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.3384987T>A Elpeleg ON1, Shaag A.(1999) ASPA_000017 - ? ? CD Elpeleg ON1, Shaag A.(1999) - - 1 Y Yang
./. 2 c.336_337insA r.(?) p.(Phe113Ilefs*2) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.3384996_3384997insA Elpeleg ON1, Shaag A.(1999) ASPA_000001 - ? ? CD Elpeleg ON1, Shaag A.(1999) - - 1 Y Yang
./. 2 c.340G>T r.(?) p.(Asp114Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3385000G>T Olsen TR1, Tranebjaerg L, Kvittingen EA, Hagenfeldt L, M?ller C, Nilssen O.(2002) ASPA_000029 - ? ? CD Olsen TR1, Tranebjaerg L, Kvittingen EA, Hagenfeldt L, M?ller C, Nilssen O.(2002) - - 1 Y Yang
./. 2 c.342C>A r.(?) p.(Asp114Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3385002C>A Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) ASPA_000012 - ? ? CD Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - 1 Y Yang
./. 2 c.368G>A r.(?) p.(Gly123Glu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3385028G>A Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) ASPA_000013 - ? ? CD Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - 1 Y Yang
./. 2 c.427A>G r.(?) p.(Ile143Val) - - Unknown g.3385087A>G Zaki OK et al. (2017) ASPA_000063 - ? ? CD Zaki OK et al. (2017) - - 1 XY Liu
./. 2 c.427A>G r.(?) p.(Ile143Val) - - Unknown g.3385087A>G Zaki OK et al. (2017) ASPA_000063 - ? ? CD Zaki OK et al. (2017) - - 1 XY Liu
./. 2 c.428T>C r.(?) p.(Ile143Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3385088T>C Kobayashi K1, Tsujino S, Ezoe T, Hamaguchi H, Nihei K, Sakuragawa N.(1998) ASPA_000016 - ? ? CD Kobayashi K1, Tsujino S, Ezoe T, Hamaguchi H, Nihei K, Sakuragawa N.(1998) - - 1 Y Yang
./. 2 c.432G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.3385092G>A Schober H1, Luetschg J, Hoeliner I, Kalb S, Simma B.(2011) ASPA_000046 - ? ? CD Schober H1, Luetschg J, Hoeliner I, Kalb S, Simma B.(2011) non-Jewish - 1 Y Yang
./. 2i c.432+1G>T r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.3385093G>T Rady PL1, Penzien JM, Vargas T, Tyring SK, Matalon R.(2000) ASPA_000058 - ? ? CD Rady PL1, Penzien JM, Vargas T, Tyring SK, Matalon R.(2000) - - 1 Y Yang
./. 3 c.454T>C r.(?) p.(Cys152Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3386814T>C Kaul R1, Gao GP, Michals K, Whelan DT, Levin S, Matalon R.(1995) ASPA_000006 - ? ? CD Kaul R1, Gao GP, Michals K, Whelan DT, Levin S, Matalon R.(1995) - - 1 Y Yang
./. 3 c.455G>A r.(?) p.(Cys152Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3386815G>A Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) ASPA_000014 - ? ? CD Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - 1 Y Yang
./. 3 c.456C>G r.(?) p.(Cys152Trp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3386816C>G Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000033 - ? ? CD Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - 1 Y Yang
./. 3 c.502C>T r.(?) p.(Arg168Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3386862C>T Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) ASPA_000015 - ? ? CD Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - 1 Y Yang
./. 3 c.502C>T r.(?) p.(Arg168Cys) - - Unknown g.3386862C>T Zaki OK et al. (2017) ASPA_000015 - ? ? CD Zaki OK et al. (2017) - - 1 XY Liu
./. 3 c.503G>A r.(?) p.(Arg168His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3386863G>A Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) ASPA_000027 - ? ? CD Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) - - 1 Y Yang
./. 4 c.527_532del6 r.(?) p.(Gly176_Ile177del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion Unknown g.3392529_3392534del6 Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) ASPA_000054 - ? ? CD Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - 1 Y Yang
./. 4 c.527_634del108 r.spl? p.? VariO:0141 DNA deletion - Unknown g.3392529_3392636del108 Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) ASPA_000055 - ? ? CD Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - 1 Y Yang
./. 4 c.530T>C r.(?) p.(Ile177Thr) - - Unknown g.3392532T>C Zaki OK et al. (2017) ASPA_000064 - ? ? CD Zaki OK et al. (2017) - - 1 XY Liu
./. 4 c.541C>A r.(?) p.(Pro181Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3392543C>A Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) ASPA_000028 - ? ? CD Sistermans EA1, de Coo RF, van Beerendonk HM, Poll-The BT, Kleijer WJ, van Oost BA.(2000) - - 1 Y Yang
./. 4 c.541C>A r.(?) p.(Pro181Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3392543C>A Schober H1, Luetschg J, Hoeliner I, Kalb S, Simma B.(2011) ASPA_000028 - ? ? CD Schober H1, Luetschg J, Hoeliner I, Kalb S, Simma B.(2011) - - 1 Y Yang
./. 4 c.548C>A r.(?) p.(Pro183His) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3392550C>A Elpeleg ON1, Shaag A.(1999) ASPA_000018 - ? ? CD Elpeleg ON1, Shaag A.(1999) - - 1 Y Yang
./. 4 c.548C>T r.(?) p.(Pro183Leu) - - Unknown g.3392550C>T Zaki OK et al. (2017) ASPA_000065 - ? ? CD Zaki OK et al. (2017) - - 1 XY Liu
./. 4 c.550C>T r.(?) p.(Gln184*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.3392552C>T Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000035 - ? ? CD Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - 1 Y Yang
./. 4 c.556G>T r.(?) p.(Val186Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3392558G>T Elpeleg ON1, Shaag A.(1999) ASPA_000019 - ? ? CD Elpeleg ON1, Shaag A.(1999) - - 1 Y Yang
./. 4 c.557T>A r.(?) p.(Val186Asp) - - Unknown g.3392559T>A Zaki OK et al. (2017) ASPA_000066 - ? ? CD Zaki OK et al. (2017) - - 1 XY Liu
./. 4 c.557T>A r.(?) p.(Val186Asp) - - Unknown g.3392559T>A Zaki OK et al. (2017) ASPA_000066 - ? ? CD Zaki OK et al. (2017) - - 1 XY Liu
./. 4 c.566_572del7 r.(?) p.(Asp190Trpfs*4) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3392568_3392574del7 Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) ASPA_000053 - ? ? CD Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - 1 Y Yang
./. 4 c.584T>G r.(?) p.(Met195Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3392586T>G Elpeleg ON1, Shaag A.(1999) ASPA_000020 - ? ? CD Elpeleg ON1, Shaag A.(1999) - - 1 Y Yang
./. 5 c.637A>G r.(?) p.(Lys213Glu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3397646A>G Tacke U1, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H.(2005) ASPA_000039 - ? ? CD Tacke U1, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H.(2005) - - 1 Y Yang
./. 5 c.637A>G r.(?) p.(Lys213Glu) - - Unknown g.3397646A>G Zayed H (2015) ASPA_000039 - ? ? CD Zayed H (2015) Greek - 1 XY Liu
./. 5 c.640G>T r.(?) p.(Glu214*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.3397649G>T Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000036 - ? ? CD Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - 1 Y Yang
./. 5 c.654C>A r.(?) p.(Cys218*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.3397663C>A Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) ASPA_000007 - ? ? CD Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - 1 Y Yang
./. 5 c.677T>C r.(?) p.(Ile226Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3397686T>C Di Pietro V1, Gambacurta A, Amorini AM, Finocchiaro A, D'Urso S, Ceccarelli L, Tavazzi B, Giardina B, Lazzarino G.(2008) ASPA_000040 - ? ? CD Di Pietro V1, Gambacurta A, Amorini AM, Finocchiaro A, D'Urso S, Ceccarelli L, Tavazzi B, Giardina B, Lazzarino G.(2008) - - 1 Y Yang
./. 5 c.692A>G r.(?) p.(Tyr231Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3397701A>G Rady PL, Vargas T, Tyring SK, Matalon R, Langenbeck U.(1999) ASPA_000024 - ? ? CD Rady PL, Vargas T, Tyring SK, Matalon R, Langenbeck U.(1999) - - 1 Y Yang
./. 5 c.692A>G r.(?) p.(Tyr231Cys) - - Unknown g.3397701A>G Zayed H (2015) ASPA_000024 - ? ? CD Zayed H (2015) Turkish - 1 XY Liu
./. 5 c.693C>A r.(?) p.(Tyr231*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.3397702C>A Kaul R1, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R.(1994) ASPA_000004 - ? ? CD Kaul R1, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R.(1994) - - 1 Y Yang
./. 5 c.693C>A r.(?) p.(Tyr231*) - - Unknown g.3397702C>A Zayed H (2015) ASPA_000004 - ? ? CD Zayed H (2015) Ashkenazi Jewish - 1 XY Liu
./. 5 c.693C>T r.(=) p.(=) - - Unknown g.3397702C>T Zaki OK et al. (2017) ASPA_000067 - ? ? CD Zaki OK et al. (2017) - - 1 XY Liu
./. 5 c.731A>G r.(?) p.(His244Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3397740A>G Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000034 - ? ? CD Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - 1 Y Yang
./. 6 c.746A>T r.(?) p.(Asp249Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3402186A>T Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000030 - ? ? CD Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - 1 Y Yang
./. 6 c.746A>T r.(?) p.(Asp249Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3402186A>T Olsen TR1, Tranebjaerg L, Kvittingen EA, Hagenfeldt L, M?ller C, Nilssen O.(2002) ASPA_000030 - ? ? CD Olsen TR1, Tranebjaerg L, Kvittingen EA, Hagenfeldt L, M?ller C, Nilssen O.(2002) - - 1 Y Yang
./. 6 c.746A>T r.(?) p.(Asp249Val) - - Unknown g.3402186A>T Zayed H (2015) ASPA_000030 - ? ? CD Zayed H (2015) British - 1 XY Liu
./. 6 c.789_790insC r.(?) p.(Thr264Hisfs*3) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.3402229_3402230insC Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000002 - ? ? CD Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - 1 Y Yang
./. 6 c.820G>C r.(?) p.(Gly274Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3402260G>C Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) ASPA_000009 - ? ? CD Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - 1 Y Yang
./. 6 c.820G>C r.(?) p.(Gly274Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3402260G>C Hussain R1, Daud S, Kakar N, Ahmad A, Baloch AH, Tareen AM, Kakar MA, Ahmad J.(2012) ASPA_000009 - ? ? CD Hussain R1, Daud S, Kakar N, Ahmad A, Baloch AH, Tareen AM, Kakar MA, Ahmad J.(2012) Pakistani - 1 Y Yang
./. 6 c.827_828delGT r.(?) p.(Cys276Tyrfs*9) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3402267_3402268delGT Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) ASPA_000049 - ? ? CD Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - 1 Y Yang
./. 6 c.838C>T r.(?) p.(Pro280Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3402278C>T Elpeleg ON1, Shaag A.(1999) ASPA_000022 - ? ? CD Elpeleg ON1, Shaag A.(1999) - - 1 Y Yang
./. 6 c.839C>T r.(?) p.(Pro280Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3402279C>T Elpeleg ON1, Shaag A.(1999) ASPA_000021 - ? ? CD Elpeleg ON1, Shaag A.(1999) - - 1 Y Yang
./. 6 c.854A>C r.(?) p.(Glu285Ala) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3402294A>C Kaul R1, Gao GP, Balamurugan K, Matalon R.(1993) ASPA_000003 - ? ? CD Kaul R1, Gao GP, Balamurugan K, Matalon R.(1993) - - 1 Y Yang
./. 6 c.854A>C r.(?) p.(Glu285Ala) - - Unknown g.3402294A>C Dotan K et al. (2010) ASPA_000003 - ? ? CD Dotan K et al. (2010) - - 1 XY Liu
./. 6 c.854A>C r.(?) p.(Glu285Ala) - - Unknown g.3402294A>C Zayed H (2015) ASPA_000003 - ? ? CD Zayed H (2015) Ashkenazi Jewish - 1 XY Liu
./. 6 c.854A>C r.(?) p.(Glu285Ala) - - Unknown g.3402294A>C Kocak A et al. (2017) ASPA_000003 - ? ? CD Kocak A et al. (2017) - - 1 XY Liu
./. 6 c.859G>A r.(?) p.(Ala287Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3402299G>A Elpeleg ON1, Shaag A.(1999) ASPA_000023 - ? ? CD Elpeleg ON1, Shaag A.(1999) - - 1 Y Yang
./. 6 c.859G>A r.(?) p.(Ala287Thr) - - Unknown g.3402299G>A Gowda VK et al. (2016) ASPA_000023 - ? ? CD Gowda VK et al. (2016) - - 1 XY Liu
./. 6 c.863A>G r.(?) p.(Tyr288Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.3402303A>G Tacke U1, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H.(2005) ASPA_000038 - ? ? CD Tacke U1, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H.(2005) - - 1 Y Yang
./. 6 c.870_873del4 r.(?) p.(Glu293Leufs*8) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3402310_3402313del4 Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) ASPA_000052 - ? ? CD Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - 1 Y Yang
./. 6 c.876_879delAGAA r.(?) p.(Glu293Leufs*8) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3402316_3402319delAGAA Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) ASPA_000047 - ? ? CD Kaul R1, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.(1996) - - 1 Y Yang
./. 6 c.884T>C r.(?) p.(Phe295Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3402324T>C Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) ASPA_000008 - ? ? CD Shaag A1, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al.(1995) - - 1 Y Yang
./. 6 c.884T>C r.(?) p.(Phe295Ser) - - Unknown g.3402324T>C Zayed H (2015) ASPA_000008 - ? ? CD Zayed H (2015) Greek, Turkish - 1 XY Liu
./. 6 c.884T>C r.(?) p.(Phe295Ser) - - Unknown g.3402324T>C Kocak A et al. (2017) ASPA_000008 - ? ? CD Kocak A et al. (2017) - - 1 XY Liu
./. 6 c.902T>C r.(?) p.(Leu301Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.3402342T>C Bijarnia S1, Kohli S, Puri RD, Jacob RJ, Saxena R, Jalan A, Sistermans EA, Mahmood S, Verma IC.(2013) ASPA_000045 - ? ? CD Bijarnia S1, Kohli S, Puri RD, Jacob RJ, Saxena R, Jalan A, Sistermans EA, Mahmood S, Verma IC.(2013) Indian - 1 Y Yang
./. 6 c.914C>A r.(?) p.(Ala305Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3402354C>A Kaul R1, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R.(1994) ASPA_000005 - ? ? CD Kaul R1, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R.(1994) - - 1 Y Yang
./. 6 c.914C>A r.(?) p.(Ala305Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.3402354C>A Delaney KE1, Kralik SF2, Hainline BE3, Golomb MR4.(2015) ASPA_000005 - ? ? CD Delaney KE1, Kralik SF2, Hainline BE3, Golomb MR4.(2015) - - 1 Y Yang
./. 6 c.914C>A r.(?) p.(Ala305Glu) - - Unknown g.3402354C>A Zayed H (2015) ASPA_000005 - ? ? CD Zayed H (2015) Non-Jewish (pan-European) - 1 XY Liu
./. 6 c.923delT r.(?) p.(Arg309Alafs*22) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.3402363delT Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000050 - ? ? CD Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - 1 Y Yang
./. 6 c.941A>G r.(?) p.(*314Trpext*45) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0023 amphigoric amino acid indel Unknown g.3402381A>G Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000037 - ? ? CD Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) - - 1 Y Yang
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