Full data view for gene PLP1

Information The variants shown are described using the NM_000533.3 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
Legend   How to query  

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     
./. 1 c.3G>T r.? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.103031926G>T Sistermans EA1, de Wijs IJ, de Coo RF, Smit LM, Menko FH, van Oost BA.(1996) PLP1_000019 - ? ? PMD Sistermans EA1, de Wijs IJ, de Coo RF, Smit LM, Menko FH, van Oost BA.(1996) - - 1 Y Yang
./. 2 c.44C>T r.(?) p.(Pro15Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103040550C>T Trofatter JA1, Dlouhy SR, DeMyer W, Conneally PM, Hodes ME.(1989) PLP1_000007 - ? ? PMD Trofatter JA1, Dlouhy SR, DeMyer W, Conneally PM, Hodes ME.(1989) - - 1 Y Yang
./. 2 c.51_54delTTCC r.(?) p.(Ser18Trpfs*28) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.103040557_103040560delTTCC Miller E1, Widjaja E, Nilsson D, Yoon G, Banwell B, Blaser S.(2010) PLP1_000072 - ? ? PMD Miller E1, Widjaja E, Nilsson D, Yoon G, Banwell B, Blaser S.(2010) - - 1 Y Yang
./. 2 c.88G>C r.(?) p.(Ala30Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103040594G>C Noetzli L1, Sanz PG, Brodsky GL, Hinckley JD, Giugni JC, Giannaula RJ, Gonzalez-Alegre P, Di Paola J.(2014) PLP1_000078 - ? ? PMD Noetzli L1, Sanz PG, Brodsky GL, Hinckley JD, Giugni JC, Giannaula RJ, Gonzalez-Alegre P, Di Paola J.(2014) - - 1 Y Yang
./. 2 c.94T>G r.(?) p.(Phe32Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103040600T>G Verhagen WI, Huygen PL, Smeets HJ, Renier WO, de Wijs I.(1997) PLP1_000056 - ? ? PMD Verhagen WI, Huygen PL, Smeets HJ, Renier WO, de Wijs I.(1997) - - 1 Y Yang
./. 2 c.98G>A r.(?) p.(Cys33Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103040604G>A Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000057 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 2 c.104G>A r.(?) p.(Cys35Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103040610G>A Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000039 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 2 c.111T>A r.(?) p.(His37Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103040617T>A Tosic M1, Dolivo M, Domanska-Janik K, Matthieu JM.(1994) PLP1_000026 - ? ? PMD Tosic M1, Dolivo M, Domanska-Janik K, Matthieu JM.(1994) - - 1 Y Yang
./. 2 c.115G>A r.(?) p.(Ala39Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103040621G>A Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000040 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 2 c.128C>T r.(?) p.(Thr43Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103040634C>T Pratt VM1, Boyadjiev S, Green K, Hodes ME, Dlouhy SR.(1995) PLP1_000018 - ? ? PMD Pratt VM1, Boyadjiev S, Green K, Hodes ME, Dlouhy SR.(1995) - - 1 Y Yang
./. 2 c.137T>C r.(?) p.(Leu46Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103040643T>C Hodes ME1, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR.(1999) PLP1_000036 - ? ? PMD Hodes ME1, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR.(1999) - - 1 Y Yang
./. 2 c.137T>G r.(?) p.(Leu46Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103040643T>G Osaka H1, Kawanishi C, Inoue K, Onishi H, Kobayashi T, Sugiyama N, Kosaka K, Nezu A, Fujii K, Sugita K, Kodama K, Murayama K, Murayama S, Kanazawa I, Kimura S.(1999) PLP1_000034 - ? ? PMD Osaka H1, Kawanishi C, Inoue K, Onishi H, Kobayashi T, Sugiyama N, Kosaka K, Nezu A, Fujii K, Sugita K, Kodama K, Murayama K, Murayama S, Kanazawa I, Kimura S.(1999) - - 1 Y Yang
./. 2 c.149A>G r.(?) p.(Tyr50Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103040655A>G Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000058 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 2 c.169G>T r.(?) p.(Asp57Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103040675G>T Arena JF1, Schwartz C, Stevenson R, Lawrence L, Carpenter A, Duara R, Ledbetter D, Huang T, Lehner T, Ott J, et al.(1992) PLP1_000022 - ? ? PMD Arena JF1, Schwartz C, Stevenson R, Lawrence L, Carpenter A, Duara R, Ledbetter D, Huang T, Lehner T, Ott J, et al.(1992) - - 1 Y Yang
./. 2 c.179A>G r.(?) p.(Tyr60Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103040685A>G Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000041 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 2i c.191+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.103040698G>A La??uthová P1, Zaliová M2, Inoue K3, Haberlová J4, Sixtová K5, Sakmaryová I4, Paděrová K4, Mazanec R6, Záme?ník J7, Si?ková D5, Garbern J8, Seeman P4.(2013) PLP1_000080 - ? ? PMD La??uthová P1, Zaliová M2, Inoue K3, Haberlová J4, Sixtová K5, Sakmaryová I4, Paděrová K4, Mazanec R6, Záme?ník J7, Si?ková D5, Garbern J8, Seeman P4.(2013) - - 1 Y Yang
./. 2i c.191+3A>T r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.103040700A>T Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000083 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 3 c.220G>C r.(?) p.(Gly74Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103041422G>C Doll R1, Natowicz MR, Schiffmann R, Smith FI.(1992) PLP1_000014 - ? ? PMD Doll R1, Natowicz MR, Schiffmann R, Smith FI.(1992) - - 1 Y Yang
./. 3 c.226G>C r.(?) p.(Ala76Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103041428G>C Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000059 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 3 c.300delC r.(?) p.(Phe101Leufs*13) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.103041502delC Shiihara T1, Watanabe M2, Moriyama K2, Uematsu M3, Sameshima K4.(2015) PLP1_000086 ADMIN ? ? PMD Shiihara T1, Watanabe M2, Moriyama K2, Uematsu M3, Sameshima K4.(2015) - - 1 Y Yang
./. 3 c.347C>A r.(?) p.(Thr116Lys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103041549C>A Nance MA1, Boyadjiev S, Pratt VM, Taylor S, Hodes ME, Dlouhy SR.(1996) PLP1_000028 - ? ? PMD Nance MA1, Boyadjiev S, Pratt VM, Taylor S, Hodes ME, Dlouhy SR.(1996) - - 1 Y Yang
./. 3 c.353C>G r.(?) p.(Thr118Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103041555C>G Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014) PLP1_000087 - ? ? PMD Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014) Chinese - 1 Y Yang
./. 3 c.385C>T r.(?) p.(Gln129*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.103041587C>T Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000060 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 3 c.398A>C r.(?) p.(His133Pro) - - Unknown g.103041600A>C Pavlidou E et al. (2017) PLP1_000091 - ? ? PMD Pavlidou E et al. (2017) - - 1 XY Liu
./. 3 c.418C>T r.(?) p.(His140Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103041620C>T Bonneau D1, Rozet JM, Bulteau C, Berthier M, Mettey R, Gil R, Munnich A, Le Merrer M.(1993) PLP1_000016 - ? ? PMD Bonneau D1, Rozet JM, Bulteau C, Berthier M, Mettey R, Gil R, Munnich A, Le Merrer M.(1993) - - 1 Y Yang
./. 3 c.434G>A r.(?) p.(Trp145*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation Unknown g.103041636G>A Hodes ME1, Blank CA, Pratt VM, Morales J, Napier J, Dlouhy SR.(1997) PLP1_000020 - ? ? PMD Hodes ME1, Blank CA, Pratt VM, Morales J, Napier J, Dlouhy SR.(1997) - - 1 Y Yang
./. 3 c.436C>G r.(?) p.(Leu146Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103041638C>G Grossi S1, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A, Vaurs-Barrière C, Cooper DN, Filocamo M.(2011) PLP1_000073 - ? ? PMD "Grossi S1, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A(2011) - - 1 Y Yang
./. 3 c.436C>G r.(?) p.(Leu146Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103041638C>G Regis S1, Corsolini F, Grossi S, Tappino B, Cooper DN, Filocamo M.(2013) PLP1_000073 - ? ? PMD Regis S1, Corsolini F, Grossi S, Tappino B, Cooper DN, Filocamo M.(2013) - - 1 Y Yang
./. 3 c.442C>T r.(?) p.(His148Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103041644C>T Sivakumar K1, Sambuughin N, Selenge B, Nagle JW, Baasanjav D, Hudson LD, Goldfarb LG.(1999) PLP1_000037 - ? ? PMD Sivakumar K1, Sambuughin N, Selenge B, Nagle JW, Baasanjav D, Hudson LD, Goldfarb LG.(1999) - - 1 Y Yang
./. 3 c.453_453+6delinsA r.? p.? VariO:0143 DNA indel - Unknown g.103041655_103041661delinsA La??uthová P1, Zaliová M2, Inoue K3, Haberlová J4, Sixtová K5, Sakmaryová I4, Paděrová K4, Mazanec R6, Záme?ník J7, Si?ková D5, Garbern J8, Seeman P4.(2013) PLP1_000079 - ? ? PMD La??uthová P1, Zaliová M2, Inoue K3, Haberlová J4, Sixtová K5, Sakmaryová I4, Paděrová K4, Mazanec R6, Záme?ník J7, Si?ková D5, Garbern J8, Seeman P4.(2013) - - 1 Y Yang
./. 3i c.453+2T>C r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - Unknown g.103041657T>C Hobson GM1, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG.(2000) PLP1_000002 - ? ? PMD Hobson GM1, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG.(2000) - - 1 Y Yang
./. 3i c.453+4A>G r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.103041659A>G Hobson GM1, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG.(2000) PLP1_000003 - ? ? PMD Hobson GM1, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG.(2000) - - 1 Y Yang
./. 3i c.453+7A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.103041662A>G Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000084 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 3i c.453+28_453+46del19 r.(=) p.(=) VariO:0141 DNA deletion - Unknown g.103041683_103041701del19 Hobson GM1, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG.(2000) PLP1_000004 - ? ? PMD Hobson GM1, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG.(2000) - - 1 Y Yang
./. 3i c.454-9T>G r.(=) p.(=) - - Unknown g.103042718T>G Omata T et al. (2016) PLP1_000090 - ? ? PMD Omata T et al. (2016) - - 1 XY Liu
./. 4 c.467C>T r.(?) p.(Thr156Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103042740C>T Pratt VM1, Trofatter JA, Schinzel A, Dlouhy SR, Conneally PM, Hodes ME.(1991) PLP1_000008 - ? ? PMD Pratt VM1, Trofatter JA, Schinzel A, Dlouhy SR, Conneally PM, Hodes ME.(1991) - - 1 Y Yang
./. 4 c.467C>T r.(?) p.(Thr156Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103042740C>T Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014) PLP1_000008 - ? ? PMD Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014) Chinese - 1 Y Yang
./. 4 c.476T>C r.(?) p.(Leu159Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103042749T>C Grossi S1, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A, Vaurs-Barrière C, Cooper DN, Filocamo M.(2011) PLP1_000074 - ? ? PMD "Grossi S1, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A(2011) - - 1 Y Yang
./. 4 c.481_482insGT r.(?) p.(Val161Glyfs*38) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.103042754_103042755insGT Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000061 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 4 c.485T>A r.(?) p.(Val162Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103042758T>A Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000062 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 4 c.487T>C r.(?) p.(Trp163Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103042760T>C Koeppen AH, Ronca NA, Greenfield EA, Hans MB.(1987) PLP1_000006 - ? ? PMD Koeppen AH, Ronca NA, Greenfield EA, Hans MB.(1987) - - 1 Y Yang
./. 4 c.497T>A r.(?) p.(Val166Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103042770T>A Pratt VM1, Kiefer JR, L?hdetie J, Schleutker J, Hodes ME, Dlouhy SR.(1993) PLP1_000024 - ? ? PMD Pratt VM1, Kiefer JR, L?hdetie J, Schleutker J, Hodes ME, Dlouhy SR.(1993) - - 1 Y Yang
./. 4 c.497T>G r.(?) p.(Val166Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103042770T>G Hodes ME1, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR.(1999) PLP1_000025 - ? ? PMD Hodes ME1, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR.(1999) - - 1 Y Yang
./. 4 c.505T>C r.(?) p.(Cys169Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103042778T>C Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000042 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 4 c.508T>C r.(?) p.(Ser170Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103042781T>C Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000063 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 4 c.517C>T r.(?) p.(Pro173Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103042790C>T Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000064 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 4 c.517C>T r.(?) p.(Pro173Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103042790C>T Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014) PLP1_000064 - ? ? PMD Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014) Chinese - 1 Y Yang
./. 4 c.524A>G r.(?) p.(Tyr175Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103042797A>G Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000043 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 4 c.543G>T r.(?) p.(Trp181Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103042816G>T Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000044 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 4 c.544A>C r.(?) p.(Thr182Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103042817A>C Strautnieks S1, Rutland P, Winter RM, Baraitser M, Malcolm S.(1992) PLP1_000010 - ? ? PMD Strautnieks S1, Rutland P, Winter RM, Baraitser M, Malcolm S.(1992) - - 1 Y Yang
./. 4 c.548C>A r.(?) p.(Thr183Asn) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103042821C>A Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000045 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 4 c.550T>C r.(?) p.(Cys184Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103042823T>C Fukumura S1, Adachi N, Nagao M, Tsutsumi H.(2011) PLP1_000071 - ? ? PMD Fukumura S1, Adachi N, Nagao M, Tsutsumi H.(2011) - - 1 Y Yang
./. 4 c.560T>C r.(?) p.(Ile187Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103042833T>C JOHNSTON AW, McKUSICK VA.(1962) PLP1_000017 - ? ? PMD JOHNSTON AW, McKUSICK VA.(1962) - - 1 Y Yang
./. 4 c.592G>C r.(?) p.(Gly198Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103042865G>C Kibe T1, Miyahara J, Yokochi K, Iwaki A.(2009) PLP1_000069 - ? ? PMD Kibe T1, Miyahara J, Yokochi K, Iwaki A.(2009) - - 1 Y Yang
./. 4 c.593G>A r.(?) p.(Gly198Asp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103042866G>A Hoffman-Zacharska D1, Kmie? T, Poznański J, Jurek M, Bal J.(2013) PLP1_000077 - ? ? PMD Hoffman-Zacharska D1, Kmie? T, Poznański J, Jurek M, Bal J.(2013) - - 1 Y Yang
./. 4 c.607G>A r.(?) p.(Asp203Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103042880G>A Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000046 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 4 c.607G>C r.(?) p.(Asp203His) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103042880G>C Doll R1, Natowicz MR, Schiffmann R, Smith FI.(1992) PLP1_000013 - ? ? PMD Doll R1, Natowicz MR, Schiffmann R, Smith FI.(1992) - - 1 Y Yang
./. 4 c.608A>G r.(?) p.(Asp203Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103042881A>G Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000047 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 4 c.608A>T r.(?) p.(Asp203Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103042881A>T Nagao M1, Kadowaki J.(1998) PLP1_000032 - ? ? PMD Nagao M1, Kadowaki J.(1998) - - 1 Y Yang
./. 4 c.609T>A r.(?) p.(Asp203Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103042882T>A Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000048 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 4 c.619T>C r.(?) p.(Tyr207His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103042892T>C Fattal-Valevski A1, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM.(2009) PLP1_000070 - ? ? PMD Fattal-Valevski A1, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM.(2009) - - 1 Y Yang
./. 5 c.623G>T r.(?) p.(Gly208Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103043366G>T Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014) PLP1_000088 - ? ? PMD Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014) Chinese - 1 Y Yang
./. 5 c.625_626delinsAA r.(?) p.(Val209Asn) VariO:0143 DNA indel VariO:0021 amino acid substitution Unknown g.103043368_103043369delinsAA Inoue K1, Osaka H, Kawanishi C, Sugiyama N, Ishii M, Sugita K, Yamada Y, Kosaka K.(1997) PLP1_000027 - ? ? PMD Inoue K1, Osaka H, Kawanishi C, Sugiyama N, Ishii M, Sugita K, Yamada Y, Kosaka K.(1997) - - 1 Y Yang
./. 5 c.629T>A r.(?) p.(Leu210His) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103043372T>A Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000049 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 5 c.630delC r.(?) p.(Pro211Hisfs*25) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.103043373delC Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000065 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 5 c.632C>T r.(?) p.(Pro211Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103043375C>T Inoue K1, Osaka H, Kawanishi C, Sugiyama N, Ishii M, Sugita K, Yamada Y, Kosaka K.(1997) PLP1_000029 - ? ? PMD Inoue K1, Osaka H, Kawanishi C, Sugiyama N, Ishii M, Sugita K, Yamada Y, Kosaka K.(1997) - - 1 Y Yang
./. 5 c.634T>C r.(?) p.(Trp212Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103043377T>C Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000050 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 5 c.636G>T r.(?) p.(Trp212Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103043379G>T Shimojima K1, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H, Hirose S, Yamamoto T.(2012) PLP1_000082 - ? ? PMD Shimojima K1, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H, Hirose S, Yamamoto T.(2012) - - 1 Y Yang
./. 5 c.646C>T r.(?) p.(Pro216Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103043389C>T Gencic S1, Abuelo D, Ambler M, Hudson LD.(1989) PLP1_000005 - ? ? PMD Gencic S1, Abuelo D, Ambler M, Hudson LD.(1989) - - 1 Y Yang
./. 5 c.646C>T r.(?) p.(Pro216Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103043389C>T Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014) PLP1_000005 - ? ? PMD Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014) Chinese - 1 Y Yang
./. 5 c.647C>T r.(?) p.(Pro216Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103043390C>T Lee ES1, Moon HK, Park YH, Garbern J, Hobson GM.(2004) PLP1_000055 - ? ? PMD Lee ES1, Moon HK, Park YH, Garbern J, Hobson GM.(2004) - - 1 Y Yang
./. 5 c.649G>A r.(?) p.(Gly217Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103043392G>A Otterbach B1, Stoffel W, Ramaekers V.(1993) PLP1_000023 - ? ? PMD Otterbach B1, Stoffel W, Ramaekers V.(1993) - - 1 Y Yang
./. 5 c.655G>T r.(?) p.(Val219Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103043398G>T Pham-Dinh D1, Popot JL, Boespflug-Tanguy O, Landrieu P, Deleuze JF, Boué J, Jollès P, Dautigny A.(1991) PLP1_000009 - ? ? PMD Pham-Dinh D1, Popot JL, Boespflug-Tanguy O, Landrieu P, Deleuze JF, Boué J, Jollès P, Dautigny A.(1991) - - 1 Y Yang
./. 5 c.659G>A r.(?) p.(Cys220Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103043402G>A Osaka H1, Kawanishi C, Inoue K, Onishi H, Kobayashi T, Sugiyama N, Kosaka K, Nezu A, Fujii K, Sugita K, Kodama K, Murayama K, Murayama S, Kanazawa I, Kimura S.(1999) PLP1_000035 - ? ? PMD Osaka H1, Kawanishi C, Inoue K, Onishi H, Kobayashi T, Sugiyama N, Kosaka K, Nezu A, Fujii K, Sugita K, Kodama K, Murayama K, Murayama S, Kanazawa I, Kimura S.(1999) - - 1 Y Yang
./. 5 c.661G>T r.(?) p.(Gly221Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103043404G>T Iwaki A1, Muramoto T, Iwaki I, Furumi H, Dario-deLeon ML, Tateishi J, Fukumaki Y.(1993) PLP1_000015 - ? ? PMD Iwaki A1, Muramoto T, Iwaki I, Furumi H, Dario-deLeon ML, Tateishi J, Fukumaki Y.(1993) - - 1 Y Yang
./. 5 c.670C>A r.(?) p.(Leu224Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103043413C>A Hodes ME1, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR.(1999) PLP1_000012 - ? ? PMD Hodes ME1, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR.(1999) - - 1 Y Yang
./. 5 c.671T>C r.(?) p.(Leu224Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103043414T>C Strautnieks S1, Rutland P, Winter RM, Baraitser M, Malcolm S.(1992) PLP1_000011 - ? ? PMD Strautnieks S1, Rutland P, Winter RM, Baraitser M, Malcolm S.(1992) - - 1 Y Yang
./. 5 c.674T>C r.(?) p.(Leu225Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103043417T>C Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000066 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 5 c.683G>A r.(?) p.(Cys228Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103043426G>A Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000051 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 5 c.689C>T r.(?) p.(Thr230Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103043432C>T Grossi S1, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A, Vaurs-Barrière C, Cooper DN, Filocamo M.(2011) PLP1_000075 - ? ? PMD "Grossi S1, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A(2011) - - 1 Y Yang
./. 5i c.696+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.103043440G>A La??uthová P1, Zaliová M2, Inoue K3, Haberlová J4, Sixtová K5, Sakmaryová I4, Paděrová K4, Mazanec R6, Záme?ník J7, Si?ková D5, Garbern J8, Seeman P4.(2013) PLP1_000081 - ? ? PMD La??uthová P1, Zaliová M2, Inoue K3, Haberlová J4, Sixtová K5, Sakmaryová I4, Paděrová K4, Mazanec R6, Záme?ník J7, Si?ková D5, Garbern J8, Seeman P4.(2013) - - 1 Y Yang
./. 6 c.700C>T r.(?) p.(Gln234*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.103044265C>T Bond C1, Si X, Crisp M, Wong P, Paulson GW, Boesel CP, Dlouhy SR, Hodes ME.(1997) PLP1_000031 - ? ? PMD Bond C1, Si X, Crisp M, Wong P, Paulson GW, Boesel CP, Dlouhy SR, Hodes ME.(1997) - - 1 Y Yang
./. 6 c.701A>C r.(?) p.(Gln234Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103044266A>C Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000052 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 6 c.709T>G r.(?) p.(Phe237Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103044274T>G Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014) PLP1_000089 - ? ? PMD Xie H1, Feng H2, Ji J3, Wu Y1, Kou L3, Li D1, Ji H1, Wu X1, Niu Z4, Wang J5, Jiang Y6.(2014) Chinese - 1 Y Yang
./. 6 c.716T>C r.(?) p.(Leu239Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103044281T>C Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000067 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 6 c.718T>C r.(?) p.(Phe240Leu) - - Unknown g.103044283T>C Lu Y et al. (2017) PLP1_000092 - ? ? PMD Lu Y et al. (2017) - - 1 XY Liu
./. 6 c.724G>C r.(?) p.(Ala242Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103044289G>C Kawanishi C1, Osaka H, Owa K, Inoue K, Miyakawa T, Onishi H, Yamada Y, Suzuki K, Kimura S, Kosaka K.(1997) PLP1_000030 - ? ? PMD Kawanishi C1, Osaka H, Owa K, Inoue K, Miyakawa T, Onishi H, Yamada Y, Suzuki K, Kimura S, Kosaka K.(1997) - - 1 Y Yang
./. 6 c.725C>T r.(?) p.(Ala242Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103044290C>T Gow A1, Lazzarini RA.(1996) PLP1_000021 - ? ? PMD Gow A1, Lazzarini RA.(1996) - - 1 Y Yang
./. 6 c.737G>A r.(?) p.(Gly246Glu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103044302G>A Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000053 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 6 c.737G>C r.(?) p.(Gly246Ala) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103044302G>C Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000068 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 6 c.739G>A r.(?) p.(Ala247Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.103044304G>A Yamamoto T1, Nanba E.(1999) PLP1_000038 - ? ? PMD Yamamoto T1, Nanba E.(1999) - - 1 Y Yang
./. 6 c.740C>A r.(?) p.(Ala247Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103044305C>A Grossi S1, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A, Vaurs-Barrière C, Cooper DN, Filocamo M.(2011) PLP1_000076 - ? ? PMD "Grossi S1, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A(2011) - - 1 Y Yang
./. 6 c.743C>A r.(?) p.(Ala248Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.103044308C>A Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) PLP1_000054 - ? ? PMD Mimault C1, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O.(1999) - - 1 Y Yang
./. 6 c.758C>T r.(?) p.(Ser253Phe) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.103044323C>T Hodes ME, Aydanian A, Dlouhy SR, Whelan DT, Heshka T, Ronen G.(1998) PLP1_000033 - ? ? PMD Hodes ME, Aydanian A, Dlouhy SR, Whelan DT, Heshka T, Ronen G.(1998) - - 1 Y Yang
./. 6 c.762G>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.103044327G>T Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) PLP1_000085 - ? ? PMD Hübner CA1, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A.(2005) - - 1 Y Yang
./. 6i c.762+3G>T r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.103044330G>T Carango P1, Funanage VL, Quirós RE, Debruyn CS, Marks HG.(1995) PLP1_000001 - ? ? PMD Carango P1, Funanage VL, Quirós RE, Debruyn CS, Marks HG.(1995) - - 1 Y Yang
Legend   How to query