Difference between revisions of "Hemochromatosis SNPdbe SNP TABLE"
From Bioinformatikpedia
Bernhoferm (talk | contribs) |
Bernhoferm (talk | contribs) |
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<figtable id="TODO_ID"> |
<figtable id="TODO_ID"> |
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| − | {| class="wikitable" style="width: |
+ | {| class="wikitable" style="width: 900px; margin: 1em 1em 1em 0; border-collapse: collapse; border-style: solid; border-width:0px; border-color: #000" |
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! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |dbSNP ID |
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |dbSNP ID |
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| − | ! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" | |
+ | ! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Sequence |
| + | ! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Type |
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! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Amino acid change |
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Amino acid change |
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! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Position |
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Position |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs149342416 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs149342416 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620572 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Ser |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Ser |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |6 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |6 |
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| Line 17: | Line 19: | ||
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143662783 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143662783 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620575 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Thr-Ile |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Thr-Ile |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |17 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |17 |
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| Line 24: | Line 27: | ||
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs148161858 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs148161858 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620578 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |23 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |23 |
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| Line 31: | Line 35: | ||
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|- |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Leu |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Leu |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |26 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |26 |
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| Line 38: | Line 43: | ||
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|- |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs2242956 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs2242956 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620575 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Thr |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |35 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |35 |
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| Line 45: | Line 51: | ||
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Asp |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Asp |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |43 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |43 |
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| Line 52: | Line 59: | ||
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934889 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934889 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620578 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |53 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |53 |
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| Line 58: | Line 66: | ||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |1000Genome,freq,cluster |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |1000Genome,freq,cluster |
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|- |
|- |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |rs111033557 |
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620578 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |59 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |59 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |by cluster |
|- |
|- |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs1799945 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs1799945 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-Asp |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-Asp |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |63 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |63 |
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| Line 73: | Line 83: | ||
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs1800730 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs1800730 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620575 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Cys |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Cys |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |65 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |65 |
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| Line 80: | Line 91: | ||
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Cys |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Cys |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |66 |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated |
||
| + | |- |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |B990874 |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Glu |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |66 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |66 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
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| Line 87: | Line 107: | ||
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs139523708 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs139523708 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |67 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |67 |
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| Line 94: | Line 115: | ||
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934597 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934597 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620578 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Arg |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Arg |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |93 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |93 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |by cluster |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |by cluster |
||
| + | |- |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |B990874 |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |100 |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated |
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| + | |- |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |A001949 |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Trp-Ala |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |103 |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated |
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|- |
|- |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934596 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934596 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620578 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |105 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |105 |
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| Line 108: | Line 147: | ||
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Thr |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |106 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |106 |
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| Line 115: | Line 155: | ||
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934595 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs28934595 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-His |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-His |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |127 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |127 |
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| Line 122: | Line 163: | ||
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs149662565 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs149662565 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Thr |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |160 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |160 |
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| Line 129: | Line 171: | ||
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs145475682 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs145475682 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620575 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Ser |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Ser |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |162 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |162 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |by freq |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |by freq |
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| + | |- |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |B990874 |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Trp-Ala |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |163 |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
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| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated |
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|- |
|- |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs144170531 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs144170531 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620576 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Lys-Glu |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Lys-Glu |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |166 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |166 |
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| Line 143: | Line 195: | ||
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs146519482 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs146519482 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gln |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gln |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |168 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |168 |
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| Line 150: | Line 203: | ||
|- |
|- |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Val |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Val |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |176 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |176 |
||
| Line 157: | Line 211: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Leu-Pro |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Leu-Pro |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |183 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |183 |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated |
||
| + | |- |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |B990874 |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Val |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |188 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs4986950 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs4986950 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620576 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Thr-Ile |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Thr-Ile |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |217 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |217 |
||
| Line 171: | Line 235: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gly |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gly |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Not validated |
||
| − | |- |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |rs62625346 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |R224Q |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gln |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |by cluster,freq |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs144797937 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs144797937 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620579 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Trp |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Trp |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |by freq |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |by freq |
||
| + | |- |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |rs62625346 |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620572 |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gln |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |TODO |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |by cluster,freq |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Tyr-His |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Tyr-His |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |230 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |230 |
||
| Line 199: | Line 267: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs140515012 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs140515012 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Ala |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Ala |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |245 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |245 |
||
| Line 206: | Line 275: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Thr |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |248 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |248 |
||
| Line 213: | Line 283: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs150402693 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs150402693 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Phe-Leu |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Phe-Leu |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |251 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |251 |
||
| Line 220: | Line 291: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs138176635 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs138176635 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gly |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gly |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |252 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |252 |
||
| Line 227: | Line 299: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |256 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |256 |
||
| Line 234: | Line 307: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143846467 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143846467 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Asn-Ser |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Asn-Ser |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |259 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |259 |
||
| Line 241: | Line 315: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Glu |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Glu |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |275 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |275 |
||
| Line 248: | Line 323: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs140080192 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs140080192 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620576 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Lys |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Lys |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |277 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |277 |
||
| Line 255: | Line 331: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs1800562 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs1800562 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620575 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Tyr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Tyr |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282 |
||
| Line 262: | Line 339: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs111033563 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs111033563 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620573 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-Pro |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-Pro |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |283 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |283 |
||
| Line 269: | Line 347: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143175221 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143175221 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |295 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |295 |
||
| Line 276: | Line 355: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Arg |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Arg |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |311 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |311 |
||
| Line 283: | Line 363: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs147519426 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs147519426 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Gly |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Gly |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |315 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |315 |
||
| Line 290: | Line 371: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs141229562 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs141229562 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ile |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ile |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |318 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |318 |
||
| Line 297: | Line 379: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs150716212 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs150716212 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |322 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |322 |
||
| Line 304: | Line 387: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs138993448 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs138993448 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |327 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |327 |
||
| Line 311: | Line 395: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs111033558 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs111033558 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_620578 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Met |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Met |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |330 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |330 |
||
| Line 318: | Line 403: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Q30201 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Val |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Val |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |339 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |339 |
||
| Line 325: | Line 411: | ||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs146508927 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs146508927 |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |NP_000401 |
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |347 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |347 |
||
Revision as of 01:12, 10 June 2012
<figtable id="TODO_ID">
| dbSNP ID | Sequence | Type | Amino acid change | Position | Effect | Experimental evidence |
|---|---|---|---|---|---|---|
| rs149342416 | NP_620572 | Non-synonymous | Arg-Ser | 6 | TODO | by freq |
| rs143662783 | NP_620575 | Non-synonymous | Thr-Ile | 17 | TODO | by freq |
| rs148161858 | NP_620578 | Non-synonymous | Arg-His | 23 | TODO | 1000Genome,freq,cluster |
| N/A | Q30201 | Non-synonymous | Arg-Leu | 26 | TODO | Not validated |
| rs2242956 | NP_620575 | Non-synonymous | Met-Thr | 35 | TODO | by cluster |
| N/A | Q30201 | Non-synonymous | Gly-Asp | 43 | TODO | Not validated |
| rs28934889 | NP_620578 | Non-synonymous | Val-Met | 53 | TODO | 1000Genome,freq,cluster |
| rs111033557 | NP_620578 | Non-synonymous | Val-Met | 59 | TODO | by cluster |
| rs1799945 | NP_000401 | Non-synonymous | His-Asp | 63 | TODO | 1000Genome,freq,cluster |
| rs1800730 | NP_620575 | Non-synonymous | Ser-Cys | 65 | TODO | 1000Genome,freq,cluster |
| N/A | Q30201 | Non-synonymous | Arg-Cys | 66 | TODO | Not validated |
| N/A | B990874 | Non-synonymous | Arg-Glu | 66 | TODO | Not validated |
| rs139523708 | NP_000401 | Non-synonymous | Arg-His | 67 | TODO | Not validated |
| rs28934597 | NP_620578 | Non-synonymous | Gly-Arg | 93 | TODO | by cluster |
| N/A | B990874 | Non-synonymous | Val-Ala | 100 | TODO | Not validated |
| N/A | A001949 | Non-synonymous | Trp-Ala | 103 | TODO | Not validated |
| rs28934596 | NP_620578 | Non-synonymous | Ile-Thr | 105 | TODO | by cluster |
| N/A | NP_000401 | Non-synonymous | Met-Thr | 106 | TODO | Not validated |
| rs28934595 | NP_000401 | Non-synonymous | Gln-His | 127 | TODO | by cluster |
| rs149662565 | NP_000401 | Non-synonymous | Pro-Thr | 160 | TODO | Not validated |
| rs145475682 | NP_620575 | Non-synonymous | Ala-Ser | 162 | TODO | by freq |
| N/A | B990874 | Non-synonymous | Trp-Ala | 163 | TODO | Not validated |
| rs144170531 | NP_620576 | Non-synonymous | Lys-Glu | 166 | TODO | by freq |
| rs146519482 | NP_000401 | Non-synonymous | Glu-Gln | 168 | TODO | Not validated |
| N/A | Q30201 | Non-synonymous | Ala-Val | 176 | TODO | Not validated |
| N/A | NP_000401 | Non-synonymous | Leu-Pro | 183 | TODO | Not validated |
| N/A | B990874 | Non-synonymous | Pro-Val | 188 | TODO | Not validated |
| rs4986950 | NP_620576 | Non-synonymous | Thr-Ile | 217 | TODO | by cluster,freq |
| N/A | Q30201 | Non-synonymous | Arg-Gly | 224 | TODO | Not validated |
| rs144797937 | NP_620579 | Non-synonymous | Arg-Trp | 224 | TODO | by freq |
| rs62625346 | NP_620572 | Non-synonymous | Arg-Gln | 224 | TODO | by cluster,freq |
| N/A | Q30201 | Non-synonymous | Tyr-His | 230 | TODO | Not validated |
| rs140515012 | NP_000401 | Non-synonymous | Pro-Ala | 245 | TODO | Not validated |
| N/A | Q30201 | Non-synonymous | Ala-Thr | 248 | TODO | Not validated |
| rs150402693 | NP_000401 | Non-synonymous | Phe-Leu | 251 | TODO | Not validated |
| rs138176635 | NP_000401 | Non-synonymous | Glu-Gly | 252 | TODO | Not validated |
| N/A | Q30201 | Non-synonymous | Val-Ala | 256 | TODO | Not validated |
| rs143846467 | NP_000401 | Non-synonymous | Asn-Ser | 259 | TODO | Not validated |
| N/A | Q30201 | Non-synonymous | Gly-Glu | 275 | TODO | Not validated |
| rs140080192 | NP_620576 | Non-synonymous | Glu-Lys | 277 | TODO | 1000Genome,freq,cluster |
| rs1800562 | NP_620575 | Non-synonymous | Cys-Tyr | 282 | TODO | 1000Genome,freq,cluster |
| rs111033563 | NP_620573 | Non-synonymous | Gln-Pro | 283 | TODO | by cluster |
| rs143175221 | NP_000401 | Non-synonymous | Val-Ala | 295 | TODO | by freq |
| N/A | Q30201 | Non-synonymous | Ser-Arg | 311 | TODO | Not validated |
| rs147519426 | NP_000401 | Non-synonymous | Val-Gly | 315 | TODO | by freq |
| rs141229562 | NP_000401 | Non-synonymous | Val-Ile | 318 | TODO | Not validated |
| rs150716212 | NP_000401 | Non-synonymous | Ile-Thr | 322 | TODO | Not validated |
| rs138993448 | NP_000401 | Non-synonymous | Ile-Thr | 327 | TODO | Not validated |
| rs111033558 | NP_620578 | Non-synonymous | Arg-Met | 330 | TODO | by cluster |
| N/A | Q30201 | Non-synonymous | Met-Val | 339 | TODO | Not validated |
| rs146508927 | NP_000401 | Non-synonymous | Arg-His | 347 | TODO | by freq |
</figtable>
