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Common exons SNPs
table |
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Access
UGT1A1 and common exons haplotypes table |
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Reference sequence for
the annotation: NT_005120.15 (dbSNP reference sequence) |
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Rs |
Observed |
mRNA1 |
Protein2 |
DNAg3 |
Position NT_005120.15 |
Exon |
Nucleotide position1,4 |
Nucleotide position in the
promoter (based on the ATG) |
Nucleotide position in the exon5 |
Comment |
|
72551347 |
C/T |
c.881T>C |
p.Ile294Thr |
g.608450T>C |
608450 |
Exon 2 |
881 |
|
17 |
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|
62625011 |
A/G |
c.923G>A |
p.Gly308Glu |
g.608492G>A |
608492 |
Exon 2 |
923 |
|
59 |
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17851756 |
C/T |
c.965T>C |
p.Ile322Thr |
g.608534T>C |
608534 |
Exon 2 |
965 |
|
101 |
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72551348 |
A/G |
c.992A>G |
p.Gln331Arg |
g.608561A>G |
608561 |
Exon 2 |
992 |
|
128 |
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4148327 |
C/T |
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g.608580T>C |
608580 |
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IVS2+15 |
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34650714 |
C/T |
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g.608583C>T |
608583 |
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IVS2+18 |
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35359603 |
A/G |
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g.608654G>A |
608654 |
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IVS2+89 |
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34903743 |
G/T |
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g.608711T>G |
608711 |
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IVS2+146 |
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34743975 |
A/C |
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g.608732A>C |
608732 |
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IVS2+167 |
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1018124 |
C/T |
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g.608872A>G |
608872 |
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IVS2+307 |
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2110298 |
A/G |
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g.608950T>C |
608950 |
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IVS2+385 |
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28946890 |
A/C/T |
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g.609127T>C |
609127 |
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IVS2+562 |
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35331289 |
-/GT |
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g.609148_609149ins2 |
609148 |
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IVS2+583 |
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45610531 |
-/GT |
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g.609150_609151ins2 |
609150 |
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IVS2+585 |
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34082659 |
C/T |
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g.609163C>T |
609163 |
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IVS2+598 |
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28900402 |
C/T |
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g.609166C>T |
609166 |
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IVS2+601 |
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2302538 |
A/G |
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g.609167T>C |
609167 |
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IVS2+602 |
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12471326 |
C/T |
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g.609212T>C |
609212 |
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IVS2+647 |
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35129844 |
A/C |
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g.609214C>A |
609214 |
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IVS2+649 |
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72551349 |
C/T |
c.1021C>T |
p.Arg341X |
g.609273C>T |
609273 |
Exon 3 |
1021 |
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25 |
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72551350 |
C/T |
c.1069C>T |
p.Gln357X |
g.609321C>T |
609321 |
Exon 3 |
1069 |
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73 |
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72551351 |
A/G |
c.1070A>G |
p.Gln357Arg |
g.609322A>G |
609322 |
Exon 3 |
1070 |
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74 |
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61764033 |
C/T |
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g.609347C>T |
609347 |
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IVS3+11 |
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71537802 |
A/C |
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g.609371A>C |
609371 |
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IVS3+35 |
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35523971 |
G/T |
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g.609456T>G |
609456 |
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IVS3+120 |
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10445705 |
A/G |
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g.609541G>A |
609541 |
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IVS3+205 |
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28900403 |
A/G |
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g.609558A>G |
609558 |
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IVS3+222 |
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35295390 |
A/G |
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g.609560G>A |
609560 |
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IVS3+224 |
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34946978 |
C/T |
c.1091C>T |
p.Pro364Leu |
g.609626C>T |
609626 |
Exon 4 |
1091 |
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7 |
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55750087 |
C/G |
c.1099C>G |
p.Arg367Gly |
g.609634C>G |
609634 |
Exon 4 |
1099 |
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15 |
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72551352 |
A/G |
c.1102G>A |
p.Ala368Thr |
g.609637G>A |
609637 |
Exon 4 |
1102 |
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18 |
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72551353 |
C/T |
c.1124C>T |
p.Ser375Phe |
g.609659C>T |
609659 |
Exon 4 |
1124 |
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40 |
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72551354 |
C/G |
c.1143C>G |
p.Ser381Arg |
g.609678C>G |
609678 |
Exon 4 |
1143 |
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59 |
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A/C |
c.1160C>A |
p.Pro387His |
g.602842C.A |
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Exon 4 |
1160 |
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76 |
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72551355 |
C/G |
c.1201G>C |
p.Ala401Pro |
g.609736G>C |
609736 |
Exon 4 |
1201 |
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117 |
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A/C |
c.1205A>G |
p.Lys402Thr |
g.602887A>G |
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Exon 4 |
1205 |
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121 |
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36076514 |
G/T |
c.1231G>T |
p.Val411Leu |
g.609766G>T |
609766 |
Exon 4 |
1231 |
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147 |
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11682453 |
C/T |
c.1279C>T |
p.Arg139Try |
g.609814C>T |
609814 |
Exon 4 |
1279 |
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195 |
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72551356 |
A/G |
c.1282A>G |
p.Lys428Glu |
g.609817A>G |
609817 |
Exon 4 |
1282 |
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198 |
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28946891 |
A/G |
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g.609957A>G |
609957 |
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IVS4+118 |
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35500060 |
C/T |
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g.609985T>C |
609985 |
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IVS4+146 |
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67025803 |
-/TT |
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g.610003_610004del2 |
610003 |
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IVS4+164 |
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6431630 |
A/G |
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g.610140G>A |
610140 |
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IVS4+301 |
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4148328 |
C/T |
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g.610413C>T |
610413 |
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IVS4+574 |
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28900404 |
A/G |
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g.610754G>A |
610754 |
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IVS4+915 |
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34358487 |
-/AT |
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g.610833_610834del2 |
610833 |
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IVS4+994 |
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34036745 |
C/G |
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g.610865G>C |
610865 |
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IVS4+1026 |
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35791110 |
A/G |
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g.610881G>A |
610881 |
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IVS4+1042 |
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36059993 |
A/G |
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g.611000G>A |
611000 |
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IVS5b+37 |
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35283790 |
C/T |
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g.611219C>T |
611219 |
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IVS5b+256 |
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71908149 |
-/A |
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g.611265_611266insA |
611265 |
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IVS5b+302 |
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72464263 |
-/A |
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g.611275_611276insA |
611275 |
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IVS5b+312 |
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35125537 |
-/A |
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g.611277delA |
611277 |
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IVS5b+314 |
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34217924 |
A/G |
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g.611348G>A |
611348 |
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IVS5b+385 |
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35883224 |
A/G |
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g.611378G>A |
611378 |
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IVS5b+415 |
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12474441 |
G/T |
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g.611422T>G |
611422 |
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IVS5b+459 |
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11563070 |
A/G |
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g.611707G>A |
611707 |
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IVS5b+744 |
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11563251 |
C/T |
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g.612138C>T |
612138 |
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IVS5b+1175 |
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36122545 |
C/T |
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g.612204C>T |
612204 |
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IVS5b+1241 |
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35475316 |
A/T |
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g.612210A>T |
612210 |
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IVS5b+1247 |
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34673611 |
C/T |
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g.612286C>T |
612286 |
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IVS5b+1323 |
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35203651 |
C/T |
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g.612303T>C |
612303 |
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IVS5b+1340 |
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34256272 |
A/G |
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g.612415G>A |
612415 |
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IVS5b+1452 |
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34168471 |
C/T |
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g.612671T>C |
612671 |
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IVS5b+1708 |
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11888492 |
C/G |
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g.612728C>G |
612728 |
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IVS5b+1765 |
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34043670 |
-/T |
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g.613018_613019insT |
613018 |
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IVS5b+2055 |
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35456228 |
A/G |
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g.613379G>A |
613379 |
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IVS5b+2416 |
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35071442 |
-/G |
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g.613427delG |
613427 |
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IVS5b+2464 |
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33979061 |
A/C |
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g.613433A>C |
613433 |
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IVS5b+2470 |
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34837096 |
C/G |
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g.613488G>C |
613488 |
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IVS5b+2525 |
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35172078 |
A/T |
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g.613495A>T |
613495 |
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IVS5b+2532 |
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28900405 |
C/G |
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g.613506C>G |
613506 |
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IVS5b+2543 |
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34216137 |
C/T |
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g.613550C>T |
613550 |
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IVS5b+2587 |
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72551357 |
A/T |
c.1309A>T |
p.Lys437X |
g.613666A>T |
613666 |
Exon 5a |
1309 |
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5 |
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72551358 |
A/C |
c.1388A>C |
p.Glu463Ala |
g.613745A>C |
613745 |
Exon 5a |
1388 |
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84 |
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72551359 |
A/C |
c.1420C>A |
p.Leu474Met |
g.613777C>A |
613777 |
Exon 5a |
1420 |
|
116 |
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28900406 |
C/T |
c.1428C>T |
p.Lys190Met |
g.613785C>T |
613785 |
Exon 5a |
1428 |
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124 |
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34993780 |
G/T |
c.1456T>G |
p.Tyr486Asp |
g.613813T>G |
613813 |
Exon 5a |
1456 |
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152 |
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72551360 |
C/T |
c.1463C>T |
p.Ser488Phe |
g.613820C>T |
613820 |
Exon 5a |
1463 |
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159 |
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72551361 |
A/T |
c.1487T>A |
p.Leu496X |
g.613844T>A |
613844 |
Exon 5a |
1487 |
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183 |
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-/G |
c.1491delG |
p.Ala498X |
g.603173delG |
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Exon 5a |
1491 |
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187 |
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1042709 |
C/G |
c.1531G>C |
p.Ala511Pro |
g.613888G>C |
613888 |
Exon 5a |
1531 |
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227 |
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1042710 |
A/G |
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g.613962A>G |
613962 |
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IVS5a+3 |
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34895241 |
C/T |
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g.614006T>C |
614006 |
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IVS5a+47 |
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10929303 |
C/T |
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g.614170T>C |
614170 |
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IVS5a+211 |
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61757316 |
C/T |
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g.614212C>T |
614212 |
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IVS5a+253 |
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1042640 |
C/G |
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g.614298G>C |
614298 |
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IVS5a+339 |
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34942353 |
C/T |
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g.614378T>C |
614378 |
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IVS5a+419 |
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8330 |
C/G |
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g.614399G>C |
614399 |
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IVS5a+440 |
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71539604 |
G/T |
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g.614629G>T |
614629 |
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IVS5a+670 |
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11562983 |
A/C |
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g.614780C>A |
614780 |
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IVS5a+821 |
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17862880 |
A/C |
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g.614810C>A |
614810 |
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IVS5a+851 |
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4148329 |
C/T |
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g.614816C>T |
614816 |
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IVS5a+857 |
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34027890 |
C/T |
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g.614827C>T |
614827 |
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IVS5a+868 |
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17862881 |
A/G |
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g.614834A>G |
614834 |
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IVS5a+875 |
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6717546 |
A/G |
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g.614873A>G |
614873 |
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IVS5a+914 |
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Changes made
on the last update are in red (2009-13-12). |
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1Coding positions are relative to the adenine (+1) of the ATG |
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2Amino acid positions are relative to the first amino acid (+1) |
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3Genomic positions are relative to the start of the reference
contig NT_005120.15 |
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4Promoter positions are relative to adenine (+1) of the ATG;
Intronic positions are relative to the end of the previous exon (+1 being the
first non-coding nucleotide at the end of each exon) |
5Coding positions are relative to the first coding nucleotide of
the exon. |
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