Full data view for gene HPRT1

Information The variants shown are described using the NM_000194.2 transcript reference sequence.

173 entries on 2 pages. Showing entries 1 - 100.
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Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

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./. 1 c.3G>T r.? p.Met1Ile VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133594344G>T Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000001 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 1i c.28-2A>T r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.133607387A>T Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) HPRT1_000142 - ? ? LNS Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) - - 1 Y Yang
./. 2 c.29T>A r.(?) p.(Ile10Asn) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133607390T>A Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000002 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 2 c.35A>C r.(?) p.(Asp12Ala) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133607396A>C Nguyen KV1, Naviaux RK, Paik KK, Nyhan WL.(2011) HPRT1_000114 - ? ? LNS Nguyen KV1, Naviaux RK, Paik KK, Nyhan WL.(2011) - - 1 Y Yang
./. 2 c.47G>A r.(?) p.(Gly16Asp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.133607408G>A Sege-Peterson K1, Chambers J, Page T, Jones OW, Nyhan WL.(1992) HPRT1_000009 - ? ? LNS Sege-Peterson K1, Chambers J, Page T, Jones OW, Nyhan WL.(1992) - - 1 Y Yang
./. 2 c.55_56insT r.(?) p.(Asp20*) VariO:0142 DNA insertion VariO:0015 protein truncation Unknown g.133607416_133607417insT Davidson BL1, Tarlé SA, Palella TD, Kelley WN.(1989) HPRT1_000100 - ? ? LNS Davidson BL1, Tarlé SA, Palella TD, Kelley WN.(1989) - - 1 Y Yang
./. 2 c.56_57insT r.(?) p.(Asp20*) VariO:0142 DNA insertion VariO:0015 protein truncation Unknown g.133607417_133607418insT Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989) HPRT1_000055 - ? ? LNS Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989) - - 1 Y Yang
./. 2 c.59A>T r.(?) p.(Asp20Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133607420A>T Yamada Y1, Nomura N, Yamada K, Kimura R, Fukushi D, Wakamatsu N, Matsuda Y, Yamauchi T, Ueda T, Hasegawa H, Nakamura M, Ichida K, Kaneko K, Fujimori S.(2014) HPRT1_000121 - ? ? LNS Yamada Y1, Nomura N, Yamada K, Kimura R, Fukushi D, Wakamatsu N, Matsuda Y, Yamauchi T, Ueda T, Hasegawa H, Nakamura M, Ichida K, Kaneko K, Fujimori S.(2014) Japanese - 1 Y Yang
./. 2 c.65T>C r.(?) p.(Phe22Ser) - - Unknown g.133607426T>C Vargiami E et al. (2016) HPRT1_000144 - ? ? LNS Vargiami E et al. (2016) - - 1 XY Liu
./. 2 c.71_72insT r.(?) p.(Pro25Thrfs*2) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.133607432_133607433insT Gordon RB1, Dawson PA, Sculley DG, Emmerson BT, Caskey CT, Gibbs RA.(1991) HPRT1_000101 - ? ? LNS Gordon RB1, Dawson PA, Sculley DG, Emmerson BT, Caskey CT, Gibbs RA.(1991) - - 1 Y Yang
./. 2 c.73C>A r.(?) p.(Pro25Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133607434C>A Tohyama J1, Nanba E, Ohno K.(1994) HPRT1_000068 - ? ? LNS Tohyama J1, Nanba E, Ohno K.(1994) - - 1 Y Yang
./. 2 c.74C>G r.(?) p.(Pro25Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133607435C>G Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004) HPRT1_000071 - ? ? LNS Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004) - - 1 Y Yang
./. 2 c.82_84delTAT r.(?) p.(Tyr28del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion Unknown g.133607443_133607445delTAT Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000081 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 2 c.88delG r.(?) p.(Glu30Argfs*12) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.133607449delG Nguyen KV1, Naviaux RK, Paik KK, Nyhan WL.(2011) HPRT1_000115 - ? ? LNS Nguyen KV1, Naviaux RK, Paik KK, Nyhan WL.(2011) - - 1 Y Yang
./. 2 c.95T>C r.(?) p.(Leu32Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.133607456T>C Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000003 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 2 c.96G>T r.(?) p.(Leu32Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133607457G>T Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000004 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 2 c.100_101insGG r.(?) p.(Val35Glyfs*8) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.133607461_133607462insGG Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) HPRT1_000102 - ? ? LNS Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) - - 1 Y Yang
./. 2 c.116A>T r.(?) p.(His39Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133607477A>T Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000005 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 2 c.118G>C r.(?) p.(Gly40Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133607479G>C Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) HPRT1_000010 - ? ? LNS Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) - - 1 Y Yang
./. 2 c.122T>C r.(?) p.(Leu41Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.133607483T>C Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989) HPRT1_000056 - ? ? LNS Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989) - - 1 Y Yang
./. 2 c.124A>T r.(?) p.(Ile42Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133607485A>T Burgemeister R1, Gutensohn W, Van den Berghe G, Jaeken J.(1994) HPRT1_000011 - ? ? LNS Burgemeister R1, Gutensohn W, Van den Berghe G, Jaeken J.(1994) - - 1 Y Yang
./. 2 c.125delT r.(?) p.(Met43Trpfs*11) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.133607486delT Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) HPRT1_000082 - ? ? LNS Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) - - 1 Y Yang
./. 2 c.133A>G r.(?) p.(Arg45Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.133607494A>G Nguyen KV1, Naviaux RK, Paik KK, Nyhan WL.(2011) HPRT1_000113 - ? ? LNS Nguyen KV1, Naviaux RK, Paik KK, Nyhan WL.(2011) - - 1 Y Yang
./. 2 c.134G>A r.(?) p.(Arg45Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.133607495G>A Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000006 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 2 c.134G>A r.(?) p.(Arg45Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.133607495G>A Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) HPRT1_000006 - ? ? LNS Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) - - 1 Y Yang
./. 2i c.134+1G>A r.(=) p.(=) - - Unknown g.133607496G>A Nguyen KV et al. (2017) HPRT1_000150 - ? ? LNS Nguyen KV et al. (2017) - - 1 XY Liu
./. 3 c.140A>G r.(?) p.(Glu47Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.133609216A>G Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000007 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 3 c.140A>T r.(?) p.(Glu47Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609216A>T Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000008 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 3 c.141delA r.(?) p.(Glu47Aspfs*7) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.133609217delA Nguyen KV1, Nyhan WL.(2013) HPRT1_000123 - ? ? LNS Nguyen KV1, Nyhan WL.(2013) - - 1 Y Yang
./. 3 c.143G>A r.(?) p.(Arg48His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.133609219G>A Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) HPRT1_000012 - ? ? LNS Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) - - 1 Y Yang
./. 3 c.149C>T r.(?) p.(Ala50Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.133609225C>T Tarlé SA1, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD.(1991) HPRT1_000013 - ? ? LNS Tarlé SA1, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD.(1991) - - 1 Y Yang
./. 3 c.151C>T r.(?) p.(Arg51*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.133609227C>T Fujimori S1, Kamatani N, Nishida Y, Ogasawara N, Akaoka I.(1990) HPRT1_000058 - ? ? LNS Fujimori S1, Kamatani N, Nishida Y, Ogasawara N, Akaoka I.(1990) - - 1 Y Yang
./. 3 c.156delT r.(?) p.(Asp52Glufs*2) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.133609232delT Willers I1, Bolz H, Wehnert M, Gal A.(1999) HPRT1_000083 - ? ? LNS Willers I1, Bolz H, Wehnert M, Gal A.(1999) - - 1 Y Yang
./. 3 c.156_185del30 r.(?) p.(Met54_Val63del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion Unknown g.133609232_133609261del30 Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) HPRT1_000130 - ? ? LNS Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) - - 1 Y Yang
./. 3 c.160A>C r.(?) p.(Met54Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609236A>C Igarashi T, Minami M, Nishida Y.(1989) HPRT1_000014 - ? ? LNS Igarashi T, Minami M, Nishida Y.(1989) - - 1 Y Yang
./. 3 c.169A>G r.(?) p.(Met57Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.133609245A>G Gregoric A1, Rabelink GM, Kokalj Vokac N, Varda NM, Zagradisnik B.(2005) HPRT1_000077 - ? ? LNS Gregoric A1, Rabelink GM, Kokalj Vokac N, Varda NM, Zagradisnik B.(2005) - - 1 Y Yang
./. 3 c.170T>C r.(?) p.(Met57Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.133609246T>C Fujimori S1, Kamatani N, Nishida Y, Ogasawara N, Akaoka I.(1990) HPRT1_000059 - ? ? LNS Fujimori S1, Kamatani N, Nishida Y, Ogasawara N, Akaoka I.(1990) - - 1 Y Yang
./. 3 c.172G>C r.(?) p.(Gly58Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609248G>C Sculley DG1, Dawson PA, Beacham IR, Emmerson BT, Gordon RB.(1991) HPRT1_000023 - ? ? LNS Sculley DG1, Dawson PA, Beacham IR, Emmerson BT, Gordon RB.(1991) - - 1 Y Yang
./. 3 c.179A>G r.(?) p.(His60Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.133609255A>G Yamada Y1, Nomura N, Yamada K, Kimura R, Fukushi D, Wakamatsu N, Matsuda Y, Yamauchi T, Ueda T, Hasegawa H, Nakamura M, Ichida K, Kaneko K, Fujimori S.(2014) HPRT1_000122 - ? ? LNS Yamada Y1, Nomura N, Yamada K, Kimura R, Fukushi D, Wakamatsu N, Matsuda Y, Yamauchi T, Ueda T, Hasegawa H, Nakamura M, Ichida K, Kaneko K, Fujimori S.(2014) Japanese - 1 Y Yang
./. 3 c.190G>C r.(?) p.(Ala64Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609266G>C Yamada Y1, Goto H, Suzumori K, Adachi R, Ogasawara N.(1992) HPRT1_000027 - ? ? LNS Yamada Y1, Goto H, Suzumori K, Adachi R, Ogasawara N.(1992) - - 1 Y Yang
./. 3 c.191C>A r.(?) p.(Ala64Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609267C>A [Marcus S1, Christensen E, Malm G.(1993) HPRT1_000031 - ? ? LNS [Marcus S1, Christensen E, Malm G.(1993) - - 1 Y Yang
./. 3 c.194T>C r.(?) p.(Leu65Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.133609270T>C Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000044 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 3 c.194T>C r.(?) p.(Leu65Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.133609270T>C Yamada Y1, Goto H, Shiomi M, Yamamoto T, Higashino K, Ogasawara N.(1996) HPRT1_000044 - ? ? LNS Yamada Y1, Goto H, Shiomi M, Yamamoto T, Higashino K, Ogasawara N.(1996) - - 1 Y Yang
./. 3 c.194_195delTC r.(?) p.(Val67Alafs*6) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.133609270_133609271delTC Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004) HPRT1_000072 - ? ? LNS Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004) - - 1 Y Yang
./. 3 c.196T>C r.(?) p.(Cys66Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.133609272T>C Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000033 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 3 c.196_197delTG r.(?) p.(Val67Alafs*6) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.133609272_133609273delTG Gathof BS1, Rocchigiani M, Micheli V, Gaigl Z, Gresser U.(1998) HPRT1_000084 - ? ? LNS Gathof BS1, Rocchigiani M, Micheli V, Gaigl Z, Gresser U.(1998) - - 1 Y Yang
./. 3 c.203T>G r.(?) p.(Leu68Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609279T>G Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000045 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 3 c.207_208insG r.(?) p.(Tyr72Leufs*2) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.133609283_133609284insG Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989) HPRT1_000062 - ? ? LNS Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989) - - 1 Y Yang
./. 3 c.208G>C r.(?) p.(Gly70Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609284G>C Tohyama J1, Nanba E, Ohno K.(1994) HPRT1_000024 - ? ? LNS Tohyama J1, Nanba E, Ohno K.(1994) - - 1 Y Yang
./. 3 c.208G>C r.(?) p.(Gly70Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609284G>C Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000024 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 3 c.208G>C r.(?) p.(Gly70Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609284G>C Bouwens-Rombouts AG1, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.(1993) HPRT1_000024 - ? ? LNS Bouwens-Rombouts AG1, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.(1993) - - 1 Y Yang
./. 3 c.208G>T r.(?) p.(Gly70Trp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609284G>T Gathof BS1, Rocchigiani M, Micheli V, Gaigl Z, Gresser U.(1998) HPRT1_000029 - ? ? LNS Gathof BS1, Rocchigiani M, Micheli V, Gaigl Z, Gresser U.(1998) - - 1 Y Yang
./. 3 c.209G>A r.(?) p.(Gly70Glu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.133609285G>A Davidson BL1, Tarlé SA, Palella TD, Kelley WN.(1989) HPRT1_000026 - ? ? LNS Davidson BL1, Tarlé SA, Palella TD, Kelley WN.(1989) - - 1 Y Yang
./. 3 c.209G>A r.(?) p.(Gly70Glu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.133609285G>A Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989) HPRT1_000026 - ? ? LNS Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989) - - 1 Y Yang
./. 3 c.211G>C r.(?) p.(Gly71Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609287G>C Fujimori S1, Davidson BL, Kelley WN, Palella TD.(1989) HPRT1_000053 - ? ? LNS Fujimori S1, Davidson BL, Kelley WN, Palella TD.(1989) - - 1 Y Yang
./. 3 c.211G>C r.(?) p.(Gly71Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609287G>C Wilson JM, Stout JT, Palella TD, Davidson BL, Kelley WN, Caskey CT.(1986) HPRT1_000053 - ? ? LNS Wilson JM, Stout JT, Palella TD, Davidson BL, Kelley WN, Caskey CT.(1986) - - 1 Y Yang
./. 3 c.212G>T r.(?) p.(Gly71Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609288G>T Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) HPRT1_000021 - ? ? LNS Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) - - 1 Y Yang
./. 3 c.212G>T r.(?) p.(Gly71Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609288G>T Bouwens-Rombouts AG1, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.(1993) HPRT1_000021 - ? ? LNS Bouwens-Rombouts AG1, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.(1993) - - 1 Y Yang
./. 3 c.212G>T r.(?) p.(Gly71Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609288G>T Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000021 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 3 c.212G>T r.(?) p.(Gly71Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609288G>T Bouwens-Rombouts AG1, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.(1993) HPRT1_000021 - ? ? LNS Bouwens-Rombouts AG1, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.(1993) - - 1 Y Yang
./. 3 c.212_213insG r.(?) p.(Tyr72Leufs*2) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.133609288_133609289insG Tarlé SA1, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD.(1991) HPRT1_000103 - ? ? LNS Tarlé SA1, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD.(1991) - - 1 Y Yang
./. 3 c.213delC r.(?) p.(Tyr72Ilefs*14) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.133609289delC Sharma S1, Jiménez RT, Aneja S, Garcia MG, Sethi GR.(2012) HPRT1_000117 - ? ? LNS Sharma S1, Jiménez RT, Aneja S, Garcia MG, Sethi GR.(2012) Indian - 1 Y Yang
./. 3 c.219_220insA r.(?) p.(Phe74Ilefs*4) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.133609295_133609296insA Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000104 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 3 c.220T>C r.(?) p.(Phe74Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.133609296T>C Sculley DG1, Dawson PA, Beacham IR, Emmerson BT, Gordon RB.(1991) HPRT1_000022 - ? ? LNS Sculley DG1, Dawson PA, Beacham IR, Emmerson BT, Gordon RB.(1991) - - 1 Y Yang
./. 3 c.220T>C r.(?) p.(Phe74Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.133609296T>C Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989) HPRT1_000022 - ? ? LNS Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989) - - 1 Y Yang
./. 3 c.220T>C r.(?) p.(Phe74Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.133609296T>C Davidson BL1, Chin SJ, Wilson JM, Kelley WN, Palella TD.(1988) HPRT1_000022 - ? ? LNS Davidson BL1, Chin SJ, Wilson JM, Kelley WN, Palella TD.(1988) - - 1 Y Yang
./. 3 c.233T>A r.(?) p.(Leu78Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609309T>A Yamada Y1, Goto H, Suzumori K, Adachi R, Ogasawara N.(1992) HPRT1_000028 - ? ? LNS Yamada Y1, Goto H, Suzumori K, Adachi R, Ogasawara N.(1992) - - 1 Y Yang
./. 3 c.239A>T r.(?) p.(Asp80Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133609315A>T Davidson BL1, Tarlé SA, Palella TD, Kelley WN.(1989) HPRT1_000025 - ? ? LNS Davidson BL1, Tarlé SA, Palella TD, Kelley WN.(1989) - - 1 Y Yang
./. 3 c.247_248delAA r.(?) p.(Lys83Serfs*4) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.133609323_133609324delAA Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000085 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 3 c.269_270delAT r.(?) p.(Asp90Glufs*17) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.133609345_133609346delAT Zamora A1, Escárcega RO, Vazquez R, Zamora A, O'Neill JP.(2007) HPRT1_000079 - ? ? LNS Zamora A1, Escárcega RO, Vazquez R, Zamora A, O'Neill JP.(2007) - - 1 Y Yang
./. 3 c.288_289insA r.(?) p.(Val97Serfs*11) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.133609364_133609365insA Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000105 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 3 c.289_290delGT r.(?) p.(Val97Argfs*10) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.133609365_133609366delGT Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997) HPRT1_000066 - ? ? LNS Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997) - - 1 Y Yang
./. 3 c.298_299insT r.(?) p.(Arg101Glnfs*7) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.133609374_133609375insT Davidson BL1, Tarlé SA, Van Antwerp M, Gibbs DA, Watts RW, Kelley WN, Palella TD.(1991) HPRT1_000106 - ? ? LNS Davidson BL1, Tarlé SA, Van Antwerp M, Gibbs DA, Watts RW, Kelley WN, Palella TD.(1991) - - 1 Y Yang
./. 3 c.307_308delAA r.(?) p.(Lys103Glufs*4) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.133609383_133609384delAA Willers I1, Bolz H, Wehnert M, Gal A.(1999) HPRT1_000086 - ? ? LNS Willers I1, Bolz H, Wehnert M, Gal A.(1999) - - 1 Y Yang
./. 3 c.310_311insG r.(?) p.(Ser104Argfs*4) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.133609386_133609387insG Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997) HPRT1_000064 - ? ? LNS Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997) - - 1 Y Yang
./. 3 c.310_311insG r.(?) p.(Ser104Argfs*4) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.133609386_133609387insG Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997) HPRT1_000064 - ? ? LNS Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997) - - 1 Y Yang
./. 3 c.317_318delGT r.spl? p.? VariO:0141 DNA deletion - Unknown g.133609393_133609394delGT Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) HPRT1_000087 - ? ? LNS Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) - - 1 Y Yang
./. 3i c.318+1G>A r.(=) p.(=) - - Unknown g.133609395G>A Nguyen KV et al. (2017) HPRT1_000151 - ? ? LNS Nguyen KV et al. (2017) - - 1 XY Liu
./. 3i c.318+1G>C r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.133609395G>C Nguyen KV1, Naviaux RK, Paik KK, Nyhan WL.(2011) HPRT1_000126 - ? ? LNS Nguyen KV1, Naviaux RK, Paik KK, Nyhan WL.(2011) - - 1 Y Yang
./. 4 c.319_322delAATG r.(?) p.(Asn107Thrfs*7) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.133620495_133620498delAATG Yamada Y1, Goto H, Suzumori K, Adachi R, Ogasawara N.(1992) HPRT1_000088 - ? ? LNS Yamada Y1, Goto H, Suzumori K, Adachi R, Ogasawara N.(1992) - - 1 Y Yang
./. 4 c.319_327del9 r.(?) p.(Asn107_Gln109del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion Unknown g.133620495_133620503del9 Yamada Y1, Goto H, Tamura S, Ogasawara N.(1993) HPRT1_000128 - ? ? LNS Yamada Y1, Goto H, Tamura S, Ogasawara N.(1993) - - 1 Y Yang
./. 4 c.320_326delinsCTTTTTTAT r.(?) p.(Asn107Thrfs*9) VariO:0143 DNA indel VariO:0023 amphigoric amino acid indel Unknown g.133620496_133620502delinsCTTTTTTAT Rebai I1, Kraoua I2, Benrhouma H1, Rouissi A1, Turki I1, Ceballos-Picot I3, Gouider-Khouja N1.(2014) HPRT1_000119 - ? ? LNS Rebai I1, Kraoua I2, Benrhouma H1, Rouissi A1, Turki I1, Ceballos-Picot I3, Gouider-Khouja N1.(2014) Tunisian - 1 Y Yang
./. 4 c.322_384+4del67 r.spl? p.? VariO:0141 DNA deletion - Unknown g.133620498_133620564del67 Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) HPRT1_000131 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 4 c.325C>T r.(?) p.(Gln109*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.133620501C>T Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997) HPRT1_000065 - ? ? LNS Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997) - - 1 Y Yang
./. 4 c.329_332delinsTCT r.(?) p.(Ser110Phefs*2) VariO:0143 DNA indel VariO:0023 amphigoric amino acid indel Unknown g.133620505_133620508delinsTCT Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004) HPRT1_000129 - ? ? LNS Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004) - - 1 Y Yang
./. 4 c.333_334delAG r.(?) p.(Asp113Hisfs*8) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.133620509_133620510delAG Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) HPRT1_000089 - ? ? LNS Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) - - 1 Y Yang
./. 4 c.342delA r.(?) p.(Val116*) VariO:0141 DNA deletion VariO:0015 protein truncation Unknown g.133620518delA Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) HPRT1_000090 - ? ? LNS Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) - - 1 Y Yang
./. 4 c.368C>A r.(?) p.(Ser123*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.133620544C>A Sege-Peterson K1, Chambers J, Page T, Jones OW, Nyhan WL.(1992) HPRT1_000054 - ? ? LNS Sege-Peterson K1, Chambers J, Page T, Jones OW, Nyhan WL.(1992) - - 1 Y Yang
./. 4 c.371_372insTT r.(?) p.(Leu125Phefs*2) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.133620547_133620548insTT Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000107 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 4 c.372dupT r.(?) p.(Leu125Phefs*14) - - Unknown g.133620548dupT Baba S et al. (2017) HPRT1_000146 - ? ? LNS Baba S et al. (2017) - - 1 XY Liu
./. 5 c.389T>A r.(?) p.(Val130Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133624222T>A Tarlé SA1, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD.(1991) HPRT1_000017 - ? ? LNS Tarlé SA1, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD.(1991) - - 1 Y Yang
./. 5 c.389T>A r.(?) p.(Val130Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133624222T>A Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989) HPRT1_000017 - ? ? LNS Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989) - - 1 Y Yang
./. 5 c.389T>A r.(?) p.(Val130Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133624222T>A Davidson BL1, Chin SJ, Wilson JM, Kelley WN, Palella TD.(1988) HPRT1_000017 - ? ? LNS Davidson BL1, Chin SJ, Wilson JM, Kelley WN, Palella TD.(1988) - - 1 Y Yang
./. 5 c.389T>A r.(?) p.(Val130Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133624222T>A Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989) HPRT1_000017 - ? ? LNS Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989) - - 1 Y Yang
./. 5 c.391delT r.(?) p.(Leu131*) VariO:0141 DNA deletion VariO:0015 protein truncation Unknown g.133624224delT Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) HPRT1_000091 - ? ? LNS Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) - - 1 Y Yang
./. 5 c.392T>C r.(?) p.(Leu131Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.133624225T>C Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989) HPRT1_000019 - ? ? LNS Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989) - - 1 Y Yang
./. 5 c.395T>G r.(?) p.(Ile132Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.133624228T>G Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) HPRT1_000042 - ? ? LNS Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000) - - 1 Y Yang
./. 5 c.397G>A r.(?) p.(Val133Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.133624230G>A Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) HPRT1_000020 - ? ? LNS Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) - - 1 Y Yang
./. 5 c.400G>A r.(?) p.(Glu134Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.133624233G>A Nguyen KV1, Nyhan WL.(2013) HPRT1_000124 - ? ? LNS Nguyen KV1, Nyhan WL.(2013) - - 1 Y Yang
./. 6 c.405_406insA r.(?) p.(Ile136Asnfs*3) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.133627540_133627541insA Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) HPRT1_000108 - ? ? LNS Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) - - 1 Y Yang
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