Effect
|
Exon
|
DNA change (cDNA)
|
RNA change
|
Protein
|
Variant/VariO/DNA
|
Variant/VariO/protein
|
DNA change (genomic) (hg19)
|
Reference
|
DB-ID
|
Frequency
|
Owner
|
./. |
5'UTR |
c.-352delG |
r.(=) |
p.(=) |
- |
- |
g.29171514delG |
Xiang Q et al. (2016)dbSNP |
TTR_000107 |
- |
XY Liu |
./. |
5'UTR |
c.-307G>C |
r.(=) |
p.(=) |
- |
- |
g.29171559G>C |
Xiang Q et al. (2016) |
TTR_000108 |
- |
XY Liu |
./. |
5'UTR |
c.-239C>A |
r.(=) |
p.(=) |
- |
- |
g.29171627C>A |
Xiang Q et al. (2016) |
TTR_000109 |
- |
XY Liu |
./. |
5'UTR |
c.-31C>T |
r.(=) |
p.(=) |
- |
- |
g.29171835C>T |
Xiang Q et al. (2016) |
TTR_000110 |
- |
XY Liu |
./. |
1i |
c.69+22C>G |
r.(=) |
p.(=) |
- |
- |
g.29171956C>G |
Xiang Q et al. (2016)dbSNP |
TTR_000099 |
- |
XY Liu |
./. |
1i |
c.69+24T>C |
r.(=) |
p.(=) |
- |
- |
g.29171958T>C |
Xiang Q et al. (2016) |
TTR_000111 |
- |
XY Liu |
./. |
1i |
c.69+66C>G |
r.(=) |
p.(=) |
- |
- |
g.29172000C>G |
Xiang Q et al. (2016)dbSNP |
TTR_000100 |
- |
XY Liu |
./. |
1i |
c.69+103A>G |
r.(=) |
p.(=) |
- |
- |
g.29172037A>G |
Xiang Q et al. (2016)dbSNP |
TTR_000101 |
- |
XY Liu |
./. |
2 |
c.76G>A |
r.(?) |
p.(Gly26Ser) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172865G>A |
Jacobson DR1, Alves IL, Saraiva MJ, Thibodeau SN, Buxbaum JN.(1995) |
TTR_000001 |
- |
Y Yang |
./. |
2 |
c.88T>C |
r.(?) |
p.(Cys30Arg) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.29172877T>C |
Uemichi T1, Murrell JR, Zeldenrust S, Benson MD.(1992) |
TTR_000002 |
- |
Y Yang |
./. |
2 |
c.95T>C |
r.(?) |
p.(Leu32Pro) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.29172884T>C |
Brett M1, Persey MR, Reilly MM, Revesz T, Booth DR, Booth SE, Hawkins PN, Pepys MB, Morgan-Hughes JA.(1999) |
TTR_000003 |
- |
Y Yang |
./. |
2 |
c.112G>A |
r.(?) |
p.(Asp38Asn) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172901G>A |
Chung CM1, Connors LH, Benson MD, Walsh MT.(2001) |
TTR_000006 |
- |
Y Yang |
./. |
2 |
c.113A>G |
r.(?) |
p.(Asp38Gly) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172902A>G |
Vidal R1, Garzuly F, Budka H, Lalowski M, Linke RP, Brittig F, Frangione B, Wisniewski T.(1996) |
TTR_000005 |
- |
Y Yang |
./. |
2 |
c.114T>A |
r.(?) |
p.(Asp38Glu) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172903T>A |
Booth DR1, Tan SY, Booth SE, Tennent GA, Hutchinson WL, Hsuan JJ, Totty NF, Truong O, Soutar AK, Hawkins PN, Bruguera M, Caballería J, Solé M, Campistol JM, Pepys MB.(1996) |
TTR_000004 |
- |
Y Yang |
./. |
2 |
c.118G>A |
r.(?) |
p.(Val40Ile) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172907G>A |
Jenne DE1, Denzel K, Bl?tzinger P, Winter P, Obermaier B, Linke RP, Altland K.(1996) |
TTR_000007 |
- |
Y Yang |
./. |
2 |
c.128G>A |
r.(?) |
p.(Ser43Asn) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172917G>A |
Connors LH1, Théberge R, Skare J, Costello CE, Falk RH, Skinner M.(1999) |
TTR_000008 |
- |
Y Yang |
./. |
2 |
c.130C>T |
r.(?) |
p.(Pro44Ser) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.29172919C>T |
Uemichi T1, Gertz MA, Benson MD.(1995) |
TTR_000009 |
- |
Y Yang |
./. |
2 |
c.133G>A |
r.(?) |
p.(Ala45Thr) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172922G>A |
Sekijima Y1, Hammarstr?m P, Matsumura M, Shimizu Y, Iwata M, Tokuda T, Ikeda S, Kelly JW.(2003) |
TTR_000010 |
- |
Y Yang |
./. |
2 |
c.133G>T |
r.(?) |
p.(Ala45Ser) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172922G>T |
Yazaki M1, Yamashita T, Kincaid JC, Scott JR, Auger RG, Dyck PJ, Benson MD.(2002) |
TTR_000011 |
- |
Y Yang |
./. |
2 |
c.142G>A |
r.(?) |
p.(Val48Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172931G>A |
de Carvalho M1, Moreira P, Evangelista T, Ducla-Soares JL, Bento M, Fernandes R, Saraiva MJ.(2000) |
TTR_000012 |
- |
Y Yang |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172937G>A |
Mita S, Maeda S, Shimada K, Araki S.(1986) |
TTR_000013 |
XYZ19940216 |
Y Yang |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172937G>A |
Maeda S, Mita S, Araki S, Shimada K.(1986) |
TTR_000013 |
- |
Y Yang |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172937G>A |
Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S.(1983) |
TTR_000013 |
- |
Y Yang |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172937G>A |
Dwulet FE, Benson MD.(1984) |
TTR_000013 |
- |
Y Yang |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172937G>A |
Kametani F1, Ikeda S, Yanagisawa N, Ishi T, Hanyu N.(1992) |
TTR_000013 |
- |
Y Yang |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172937G>A |
Reilly MM1, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, Harding AE.(1995) |
TTR_000013 |
- |
Y Yang |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172937G>A |
Lachmann HJ1, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD, Pepys MB, Hawkins PN.(2002) |
TTR_000013 |
- |
Y Yang |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172937G>A |
Altland K1, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, Kristen AV, Linke RP, Merlini G, Salvi F, Saraiva MJ, Singer R, Skinner M, Winter P.(2007) |
TTR_000013 |
- |
Y Yang |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172937G>A |
Ikeda K1, Kinoshita M, Takamiya K, Iwasaki Y, Tomita Y, Nakano I I, Nakazato M.(1998) |
TTR_000013 |
- |
Y Yang |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
- |
- |
g.29172937G>A |
Xiang Q et al. (2016)dbSNP |
TTR_000013 |
- |
XY Liu |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
- |
- |
g.29172937G>A |
Luigetti M et al. (2013) |
TTR_000013 |
- |
XY Liu |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
- |
- |
g.29172937G>A |
Wilmes D et al. (2012) |
TTR_000013 |
- |
XY Liu |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
- |
- |
g.29172937G>A |
Koike H et al. (2012) |
TTR_000013 |
- |
XY Liu |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
- |
- |
g.29172937G>A |
Leibou L eT al. (2012) |
TTR_000013 |
- |
XY Liu |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
- |
- |
g.29172937G>A |
Lefaucheur JP et al. (2013) |
TTR_000013 |
- |
XY Liu |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
- |
- |
g.29172937G>A |
Teixeira AC et al. (2013) |
TTR_000013 |
- |
XY Liu |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
- |
- |
g.29172937G>A |
Takahashi R et al. (2014) |
TTR_000013 |
- |
XY Liu |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
- |
- |
g.29172937G>A |
Bekircan-Kurt CE et al. (2015) |
TTR_000013 |
- |
XY Liu |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
- |
- |
g.29172937G>A |
Maetani Y et al. (2016) |
TTR_000013 |
- |
XY Liu |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
- |
- |
g.29172937G>A |
Durmuş-Tekçe H et al. (2016) |
TTR_000013 |
- |
XY Liu |
./. |
2 |
c.148G>A |
r.(?) |
p.(Val50Met) |
- |
- |
g.29172937G>A |
Andrés N et al. (2016) |
TTR_000013 |
- |
XY Liu |
./. |
2 |
c.148G>C |
r.(?) |
p.(Val50Leu) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172937G>C |
Utsugisawa K1, Tohgi H, Nagane Y, Yamagata M, Saito K, Mihara M.(1998) |
TTR_000015 |
- |
Y Yang |
./. |
2 |
c.148G>C |
r.(?) |
p.(Val50Leu) |
- |
- |
g.29172937G>C |
Chen H et al. (2016) |
TTR_000015 |
- |
XY Liu |
./. |
2 |
c.149T>C |
r.(?) |
p.(Val50Ala) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.29172938T>C |
Jones LA1, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M.(1992) |
TTR_000014 |
- |
Y Yang |
./. |
2 |
c.149T>G |
r.(?) |
p.(Val50Gly) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172938T>G |
Petersen RB1, Goren H, Cohen M, Richardson SL, Tresser N, Lynn A, Gali M, Estes M, Gambetti P.(1997) |
TTR_000016 |
- |
Y Yang |
./. |
2 |
c.155T>C |
r.(?) |
p.(Val52Ala) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.29172944T>C |
Pica EC1, Pramono ZA, Verma KK, San LP, Chee YW.(2005) |
TTR_000017 |
- |
Y Yang |
./. |
2 |
c.155T>C |
r.(?) |
p.(Val52Ala) |
- |
- |
g.29172944T>C |
Leibou L eT al. (2012) |
TTR_000017 |
- |
XY Liu |
./. |
2 |
c.157T>A |
r.(?) |
p.(Phe53Ile) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172946T>A |
Nakazato M, Kangawa K, Minamino N, Tawara S, Matsuo H, Araki S.(1984) |
TTR_000018 |
- |
Y Yang |
./. |
2 |
c.157T>A |
r.(?) |
p.(Phe53Ile) |
- |
- |
g.29172946T>A |
Venkatesh P et al. (2017) |
TTR_000018 |
- |
XY Liu |
./. |
2 |
c.157T>C |
r.(?) |
p.(Phe53Leu) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.29172946T>C |
Ii S1, Minnerath S, Ii K, Dyck PJ, Sommer SS.(1991) |
TTR_000019 |
- |
Y Yang |
./. |
2 |
c.157T>C |
r.(?) |
p.(Phe53Leu) |
- |
- |
g.29172946T>C |
Leibou L eT al. (2012) |
TTR_000019 |
- |
XY Liu |
./. |
2 |
c.157T>G |
r.(?) |
p.(Phe53Val) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172946T>G |
Tachibana N1, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, Ikeda S.(1999) |
TTR_000020 |
- |
Y Yang |
./. |
2 |
c.158T>G |
r.(?) |
p.(Phe53Cys) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172947T>G |
Lim A1, Prokaeva T, McComb ME, Connors LH, Skinner M, Costello CE.(2003) |
TTR_000021 |
- |
Y Yang |
./. |
2 |
c.160A>G |
r.(?) |
p.(Arg54Gly) |
- |
- |
g.29172949A>G |
Levy J et al. (2012) |
TTR_000122 |
- |
XY Liu |
./. |
2 |
c.161G>A |
r.(?) |
p.(Arg54Lys) |
- |
- |
g.29172950G>A |
Bekircan-Kurt CE et al. (2015) |
TTR_000125 |
- |
XY Liu |
./. |
2 |
c.161G>C |
r.(?) |
p.(Arg54Thr) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172950G>C |
Patrosso MC1, Salvi F, De Grandis D, Vezzoni P, Jacobson DR, Ferlini A.(1998) |
TTR_000022 |
- |
Y Yang |
./. |
2 |
c.165G>T |
r.(?) |
p.(Lys55Asn) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172954G>T |
Reilly MM1, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, Harding AE.(1995) |
TTR_000023 |
XYZ19940216 |
Y Yang |
./. |
2 |
c.166G>C |
r.(?) |
p.(Ala56Pro) |
- |
- |
g.29172955G>C |
Chaves M et al. (2016) |
TTR_000126 |
- |
XY Liu |
./. |
2 |
c.166G>T |
r.(?) |
p.(Ala56Ser) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172955G>T |
Jones LA1, Skare JC, Harding JA, Cohen AS, Milunsky A, Skinner M.(1991) |
TTR_000024 |
- |
Y Yang |
./. |
2 |
c.173A>C |
r.(?) |
p.(Asp58Ala) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172962A>C |
Tachibana N1, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, Ikeda S.(1999) |
TTR_000025 |
- |
Y Yang |
./. |
2 |
c.173A>T |
r.(?) |
p.(Asp58Val) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172962A>T |
Augustin S1, Llige D, Andreu A, González A, Genescà J.(2007) |
TTR_000026 |
- |
Y Yang |
./. |
2 |
c.182G>T |
r.(?) |
p.(Trp61Leu) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172971G>T |
Lim A1, Prokaeva T, McComb ME, O'Connor PB, Théberge R, Connors LH, Skinner M, Costello CE.(2002) |
TTR_000027 |
- |
Y Yang |
./. |
2 |
c.185A>G |
r.(?) |
p.(Glu62Gly) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172974A>G |
Toyooka K1, Fujimura H, Ueno S, Yoshikawa H, Kaido M, Nishimura T, Yorifuji S, Yanagihara T.(1995) |
TTR_000028 |
- |
Y Yang |
./. |
2 |
c.186G>T |
r.(?) |
p.(Glu62Asp) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172975G>T |
Dupuy O1, Blétry O, Blanc AS, Droz D, Viémont M, Delpech M, Grateau G.(1998) |
TTR_000029 |
- |
Y Yang |
./. |
2 |
c.191T>C |
r.(?) |
p.(Phe64Ser) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.29172980T>C |
Klein CJ1, Nakumura M, Jacobson DR, Lacy MQ, Benson MD, Petersen RC.(1998) |
TTR_000030 |
- |
Y Yang |
./. |
2 |
c.193G>A |
r.(?) |
p.(Ala65Thr) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172982G>A |
Saraiva MJ1, Almeida Mdo R, Sherman W, Gawinowicz M, Costa P, Costa PP, Goodman DS.(1992) |
TTR_000033 |
- |
Y Yang |
./. |
2 |
c.193G>C |
r.(?) |
p.(Ala65Pro) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172982G>C |
Janunger T1, Anan I, Holmgren G, L?vheim O, Ohlsson PI, Suhr OB, Tashima K.(2000) |
TTR_000032 |
- |
Y Yang |
./. |
2 |
c.194C>A |
r.(?) |
p.(Ala65Asp) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172983C>A |
- |
TTR_000031 |
- |
Y Yang |
./. |
2 |
c.199G>C |
r.(?) |
p.(Gly67Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172988G>C |
Murakami T1, Maeda S, Yi S, Ikegawa S, Kawashima E, Onodera S, Shimada K, Araki S.(1992) |
TTR_000034 |
- |
Y Yang |
./. |
2 |
c.200G>A |
r.(?) |
p.(Gly67Glu) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29172989G>A |
Altland K1, Winter P, Sauerborn MK.(1999) |
TTR_000037 |
- |
Y Yang |
./. |
2 |
c.200G>A |
r.(?) |
p.(Gly67Glu) |
- |
- |
g.29172989G>A |
Durmuş-Tekçe H et al. (2016) |
TTR_000037 |
- |
XY Liu |
./. |
2 |
c.200G>C |
r.(?) |
p.(Gly67Ala) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172989G>C |
Altland K1, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, Kristen AV, Linke RP, Merlini G, Salvi F, Saraiva MJ, Singer R, Skinner M, Winter P.(2007) |
TTR_000035 |
- |
Y Yang |
./. |
2 |
c.200G>T |
r.(?) |
p.(Gly67Val) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29172989G>T |
- |
TTR_000036 |
- |
Y Yang |
./. |
2 |
c.200G>T |
r.(?) |
p.(Gly67Val) |
- |
- |
g.29172989G>T |
Asakura K et al. (2016) |
TTR_000036 |
- |
XY Liu |
./. |
2i |
c.200+4A>G |
r.(=) |
p.(=) |
- |
- |
g.29172993A>G |
Xiang Q et al. (2016)dbSNP |
TTR_000112 |
- |
XY Liu |
./. |
2i |
c.201-76T>A |
r.(=) |
p.(=) |
- |
- |
g.29175007T>A |
Xiang Q et al. (2016)dbSNP |
TTR_000102 |
- |
XY Liu |
./. |
3 |
c.205A>C |
r.(?) |
p.(Thr69Pro) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29175087A>C |
- |
TTR_000040 |
- |
Y Yang |
./. |
3 |
c.205A>G |
r.(?) |
p.(Thr69Ala) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29175087A>G |
Benson MD 2nd1, Julien J, Liepnieks J, Zeldenrust S, Benson MD.(1993) |
TTR_000038 |
- |
Y Yang |
./. |
3 |
c.205A>G |
r.(?) |
p.(Thr69Ala) |
- |
- |
g.29175087A>G |
Mazzeo A et al. (2015) |
TTR_000038 |
- |
XY Liu |
./. |
3 |
c.205A>T |
r.(?) |
p.(Thr69Ser) |
- |
- |
g.29175087A>T |
Bekircan-Kurt CE et al. (2015) |
TTR_000124 |
- |
XY Liu |
./. |
3 |
c.206C>T |
r.(?) |
p.(Thr69Ile) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.29175088C>T |
Nakamura M1, Yamashita T, Ando Y, Hamidi Asl K, Tashima K, Ohlsson P, Kususe Y, Benson MD.(1999) |
TTR_000039 |
- |
Y Yang |
./. |
3 |
c.208A>C |
r.(?) |
p.(Ser70Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29175090A>C |
Ueno S1, Uemichi T, Takahashi N, Soga F, Yorifuji S, Tarui S.(1990) |
TTR_000041 |
- |
Y Yang |
./. |
3 |
c.209G>T |
r.(?) |
p.(Ser70Ile) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29175091G>T |
Nishi H1, Kimura A, Harada H, Hayashi Y, Nakamura M, Sasazuki T.(1992) |
TTR_000042 |
- |
Y Yang |
./. |
3 |
c.212A>G |
r.(?) |
p.(Glu71Gly) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29175094A>G |
- |
TTR_000043 |
- |
Y Yang |
./. |
3 |
c.214T>C |
r.(?) |
p.(Ser72Pro) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.29175096T>C |
Pepys MB1, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ, et al.(1993) |
TTR_000044 |
- |
Y Yang |
./. |
3 |
c.218G>A |
r.(?) |
p.(Gly73Glu) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29175100G>A |
Ellie E1, Camou F, Vital A, Rummens C, Grateau G, Delpech M, Valleix S.(2001) |
TTR_000045 |
- |
Y Yang |
./. |
3 |
c.218G>A |
r.(?) |
p.(Gly73Glu) |
- |
- |
g.29175100G>A |
Durmuş-Tekçe H et al. (2016) |
TTR_000045 |
- |
XY Liu |
./. |
3 |
c.218G>C |
r.(?) |
p.(Gly73Ala) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29175100G>C |
Douglass C1, Suvarna K, Reilly MM, Hawkins PN, Hadjivassiliou M.(2007) |
TTR_000046 |
- |
Y Yang |
./. |
3 |
c.220G>A |
r.(?) |
p.(Glu74Lys) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29175102G>A |
Nagasaka T1, Togashi S, Watanabe H, Iida H, Nagasaka K, Nakamura Y, Miwa M, Kobayashi F, Shindo K, Shiozawa Z.(2009) |
TTR_000048 |
- |
Y Yang |
./. |
3 |
c.220G>A |
r.(?) |
p.(Arg54Lys) |
- |
- |
g.29175102G>A |
Veronese C et al. (2013) |
TTR_000048 |
- |
XY Liu |
./. |
3 |
c.221A>G |
r.(?) |
p.(Glu74Gly) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29175103A>G |
Kim HS1, Kim SM, Kang SW, Jung SC, Lee KS, Kim TS, Choi YC.(2005) |
TTR_000047 |
- |
Y Yang |
./. |
3 |
c.221A>G |
r.(?) |
p.(Glu74Gly) |
- |
- |
g.29175103A>G |
Schänzer A et al. (2014) |
TTR_000047 |
- |
XY Liu |
./. |
3 |
c.221A>G |
r.(?) |
p.(Glu74Gly) |
- |
- |
g.29175103A>G |
Durmuş-Tekçe H et al. (2016) |
TTR_000047 |
- |
XY Liu |
./. |
3 |
c.224T>A |
r.(?) |
p.(Leu75Gln) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29175106T>A |
Yazaki M1, Varga J, Dyck PJ, Benson MD.(2002) |
TTR_000051 |
- |
Y Yang |
./. |
3 |
c.224T>C |
r.(?) |
p.(Leu75Pro) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.29175106T>C |
Jacobson DR1, McFarlin DE, Kane I, Buxbaum JN.(1992) |
TTR_000050 |
- |
Y Yang |
./. |
3 |
c.224T>G |
r.(?) |
p.(Leu75Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29175106T>G |
Altland K1, Winter P, Sauerborn MK.(1999) |
TTR_000049 |
- |
Y Yang |
./. |
3 |
c.227A>G |
r.(?) |
p.(His76Arg) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.29175109A>G |
- |
TTR_000052 |
- |
Y Yang |
./. |
3 |
c.233T>A |
r.(?) |
p.(Leu78His) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29175115T>A |
Nichols WC1, Liepnieks JJ, McKusick VA, Benson MD.(1989) |
TTR_000053 |
- |
Y Yang |
./. |
3 |
c.233T>G |
r.(?) |
p.(Leu78Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29175115T>G |
Saeki Y1, Ueno S, Yorifuji S, Sugiyama Y, Ide Y, Matsuzawa Y.(1991) |
TTR_000054 |
- |
Y Yang |
./. |
3 |
c.236C>A |
r.(?) |
p.(Thr79Lys) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.29175118C>A |
Booth DR1, Tan SY, Hawkins PN, Pepys MB, Frustaci A.(1995) |
TTR_000055 |
- |
Y Yang |