Full data view for gene NTRK1

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

48 entries on 1 page. Showing entries 1 - 48.
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./. 2 c.107delA r.(?) p.(Asn36Thrfs*22) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.156811970delA Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000003 - ? ? HSAN Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - 1 Y Yang
./. 3 c.163C>T r.(?) p.(Arg55Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.156834186C>T Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000016 - ? ? HSAN Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - 1 Y Yang
./. 3 c.188T>C r.(?) p.(Leu63Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.156834211T>C Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001) NTRK1_000021 - ? ? HSAN Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001) - - 1 Y Yang
./. 3i c.198-1G>C r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.156834519G>C Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000040 - ? ? HSAN Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - 1 Y Yang
./. 4i c.269+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.156834592G>A Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) NTRK1_000041 - ? ? HSAN Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) - - 1 Y Yang
./. 5 c.301_302delTC r.(?) p.(Ser101Leufs*41) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.156836733_156836734delTC Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000006 - ? ? HSAN Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - 1 Y Yang
./. 6i c.338+1G>C r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.156836771G>C Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000042 - ? ? HSAN Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - 1 Y Yang
./. 6 c.400G>T r.(?) p.(Glu134*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.156837957G>T Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000023 - ? ? HSAN Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - 1 Y Yang
./. 6 c.436C>T r.(?) p.(Gln146*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.156837993C>T Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000022 - ? ? HSAN Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - 1 Y Yang
./. 7i c.484+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.156838042G>A Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000043 - ? ? HSAN Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - 1 Y Yang
./. 7 c.548T>C r.(?) p.(Leu183Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.156838360T>C Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000024 - ? ? HSAN Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - 1 Y Yang
./. 7i c.761-33T>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.156843392T>A Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000039 - ? ? HSAN Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - 1 Y Yang
./. 9i c.761-1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - Unknown g.156843424G>A Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000044 - ? ? HSAN Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - 1 Y Yang
./. 9 c.834_840delGCCGGCA r.(?) p.(Gln278Hisfs*154) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.156843498_156843504delGCCGGCA Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000002 - ? ? HSAN Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - 1 Y Yang
./. 9 c.986A>G r.(?) p.(Tyr329Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.156843650A>G Houlden H1, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK.(2001) NTRK1_000018 - ? ? HSAN Houlden H1, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK.(2001) - - 1 Y Yang
./. 9 c.987C>A r.(?) p.(Tyr329*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.156843651C>A Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000025 - ? ? HSAN Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - 1 Y Yang
./. 9 c.1069_1076dup r.(?) p.(Ile361Argfs*76) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.156843733_156843740dup Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M.(2012) NTRK1_000037 - ? ? HSAN "Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012) - - 1 Y Yang
./. 9 c.1072G>A r.(?) p.(Glu358Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.156843736G>A Wieczorek S1, Bergstr?m J, S??f M, K?tting J, Iwarsson E.(2008) NTRK1_000036 - ? ? HSAN Wieczorek S1, Bergstr?m J, S??f M, K?tting J, Iwarsson E.(2008) - - 1 Y Yang
./. 13 c.1414_1415delCG r.(?) p.(Arg472Glyfs*20) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.156845892_156845893delCG Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000009 - ? ? HSAN Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - 1 Y Yang
./. 13 c.1422_1423insGGGACATC r.(?) p.(Val475Glyfs*39) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.156845900_156845901insGGGACATC Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000010 - ? ? HSAN Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - 1 Y Yang
./. 13 c.1456G>C r.(?) p.(Gly486Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.156845934G>C Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000026 - ? ? HSAN Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - 1 Y Yang
./. 13 c.1474G>A r.(?) p.(Glu492Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.156845952G>A Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M.(2012) NTRK1_000038 - ? ? HSAN "Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012) - - 1 Y Yang
./. 14 c.1552delC r.(?) p.(Arg518Glyfs*104) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.156846219delC Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996) NTRK1_000005 - ? ? HSAN Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996) - - 1 Y Yang
./. 14 c.1621G>C r.(?) p.(Gly541Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.156846288G>C Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996) NTRK1_000012 - ? ? HSAN Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996) - - 1 Y Yang
./. 14 c.1621G>C r.(?) p.(Gly541Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.156846288G>C Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996) NTRK1_000012 - ? ? HSAN Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996) - - 1 Y Yang
./. 14 c.1646delT r.(?) p.(Leu549Argfs*73) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.156846313delT Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000007 - ? ? HSAN Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - 1 Y Yang
./. 14 c.1651A>G r.(?) p.(Met551Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.156846318A>G Yotsumoto S1, Setoyama M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T.(1999) NTRK1_000019 - ? ? HSAN Yotsumoto S1, Setoyama M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T.(1999) - - 1 Y Yang
./. 15 c.1696C>T r.(?) p.(Arg566*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.156846363C>T Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000027 - ? ? HSAN Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - 1 Y Yang
./. 15 c.1702C>T r.(?) p.(His568Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.156848918C>T Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000014 - ? ? HSAN Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - 1 Y Yang
./. 15 c.1730G>T r.(?) p.(Gly577Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.156848946G>T Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000015 - ? ? HSAN Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - 1 Y Yang
./. 15 c.1735G>T r.(?) p.(Glu579*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.156848951G>T Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) NTRK1_000001 - ? ? HSAN Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) - - 1 Y Yang
./. 15 c.1735G>T r.(?) p.(Glu579*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.156848951G>T Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) NTRK1_000001 - ? ? HSAN Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) - - 1 Y Yang
./. 15 c.1741G>C r.(?) p.(Val581Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.156848957G>C Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) NTRK1_000020 - ? ? HSAN Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) - - 1 Y Yang
./. 15 c.1741G>C r.(?) p.(Val581Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.156848957G>C Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) NTRK1_000020 - ? ? HSAN Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) - - 1 Y Yang
./. 15 c.1752_1753insT r.(?) p.(Pro585Serfs*12) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.156848968_156848969insT Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000) NTRK1_000004 - ? ? HSAN Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000) - - 1 Y Yang
./. 15 c.1837C>T r.(?) p.(Arg613Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.156849053C>T Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000028 - ? ? HSAN Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - 1 Y Yang
./. 15 c.1852C>T r.(?) p.(Arg618Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.156849068C>T Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000029 - ? ? HSAN Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - 1 Y Yang
./. 15 c.1912G>T r.(?) p.(Asp638Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.156849128G>T Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000030 - ? ? HSAN Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - 1 Y Yang
./. 15 c.1915A>C r.(?) p.(Ile639Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.156849131A>C Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000) NTRK1_000031 - ? ? HSAN Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000) - - 1 Y Yang
./. 16 c.1976C>T r.(?) p.(Pro659Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.156849828C>T Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000) NTRK1_000017 - ? ? HSAN Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000) - - 1 Y Yang
./. 16 c.2032G>A r.(?) p.(Gly678Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.156849884G>A Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) NTRK1_000032 - ? ? HSAN Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - 1 Y Yang
./. 16 c.2036T>C r.(?) p.(Val679Ala) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.156849888T>C Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000033 - ? ? HSAN Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - 1 Y Yang
./. 17 c.2163C>A r.(?) p.(Tyr721*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.156851314C>A Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000034 - ? ? HSAN Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - 1 Y Yang
./. 17 c.2173C>T r.(?) p.(Arg725Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.156851324C>T Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) NTRK1_000035 - ? ? HSAN Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - 1 Y Yang
./. 17 c.2190_2191insT r.(?) p.(Glu731*) VariO:0142 DNA insertion VariO:0015 protein truncation Unknown g.156851341_156851342insT Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001) NTRK1_000011 - ? ? HSAN Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001) - - 1 Y Yang
./. 17 c.2219_2220insT r.(?) p.(Val741Cysfs*91) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.156851370_156851371insT Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) NTRK1_000008 - ? ? HSAN Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - 1 Y Yang
./. 17 c.2231G>C r.(?) p.(Arg744Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.156851382G>C Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999) NTRK1_000013 - ? ? HSAN Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999) - - 1 Y Yang
./. 17 c.2231G>C r.(?) p.(Arg744Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.156851382G>C Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999) NTRK1_000013 - ? ? HSAN Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999) - - 1 Y Yang
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