Fabry:Mapping point mutations/SNPedia data
From Bioinformatikpedia
<figtable id="tab:SNPedia"> SNPs found in SNPedia
SNP | function_class | validation | dbSNP_entry |
---|---|---|---|
A20P | missense | YES | rs104894847 |
N34S | missense | YES | rs104894835 |
P40S | missense | YES | rs104894831 |
W44X | stop-gained | YES | rs104894829 |
C56G | missense | YES | rs104894836 |
S65T | missense | YES | rs104894848 |
E66Q | missense | NO | rs104894833 |
R112C | missense | NO | rs104894834 |
A143T | missense | YES | rs104894845 |
A143P | missense | YES | rs104894845 |
P146S | missense | YES | rs104894837 |
A156T | missense | YES | rs28935195 |
W162R | missense | YES | rs28935196 |
C202W | missense | YES | rs104894838 |
N215S | missense | YES | rs28935197 |
Y222X | stop-gained | YES | rs104894851 |
R227Q | missense | YES | rs104894840 |
R227X | stop-gained | YES | rs104894841 |
D264V | missense | YES | rs28935486 |
D266V | missense | YES | rs28935487 |
V269A | missense | YES | rs28935488 |
N272S | missense | YES | rs28935495 |
Q279E | missense | YES | rs28935485 |
W287X | stop-gained | YES | rs104894839 |
M296V | missense | YES | rs104894830 |
M296I | missense | YES | rs104894846 |
S297F | missense | YES | rs28935489 |
R301Q | missense | YES | rs104894828 |
D313Y | missense | YES | rs28935490 |
Q327K | missense | YES | rs28935491 |
G328A | missense | YES | rs28935492 |
G328R | missense | YES | rs104894832 |
W340X | stop-gained | YES | rs104894842 |
R342Q | missense | YES | rs28935493 |
R342X | stop-gained | YES | rs104894843 |
R356W | missense | YES | rs104894827 |
Y365X | stop-gained | YES | rs104894849 |
E398X | stop-gained | YES | rs104894844 |
T410A | missense | YES | rs104894852 |
</figtable>